| NM_004304.5(ALK):c.2269G>A (p.Val757Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000528414]|Ovarian cancer [RCV003153718]|not provided [RCV003225087] |
Chr2:29239766 [GRCh38]
Chr2:29462632 [GRCh37]
Chr2:2p23.2 |
likely pathogenic|uncertain significance |
| NM_004304.5(ALK):c.1083C>T (p.Tyr361=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003302865]|Neuroblastoma, susceptibility to, 3 [RCV000542673] |
Chr2:29531986 [GRCh38]
Chr2:29754852 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3420C>T (p.Asn1140=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020262]|Neuroblastoma, susceptibility to, 3 [RCV000551056]|not provided [RCV003424129] |
Chr2:29222547 [GRCh38]
Chr2:29445413 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1699G>A (p.Val567Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000548498] |
Chr2:29297006 [GRCh38]
Chr2:29519872 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1393G>A (p.Glu465Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000526293] |
Chr2:29328371 [GRCh38]
Chr2:29551237 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.504C>T (p.Phe168=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002341400]|Neuroblastoma, susceptibility to, 3 [RCV000529857] |
Chr2:29920156 [GRCh38]
Chr2:30143022 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1133T>C (p.Met378Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000546331] |
Chr2:29531936 [GRCh38]
Chr2:29754802 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1613C>T (p.Thr538Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000543527] |
Chr2:29318338 [GRCh38]
Chr2:29541204 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1435T>C (p.Tyr479His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000526976] |
Chr2:29320862 [GRCh38]
Chr2:29543728 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4343C>T (p.Ser1448Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000530604]|Ovarian cancer [RCV003153720] |
Chr2:29193744 [GRCh38]
Chr2:29416610 [GRCh37]
Chr2:2p23.2 |
benign|uncertain significance |
| NM_004304.5(ALK):c.117G>A (p.Gln39=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002341395]|Neuroblastoma, susceptibility to, 3 [RCV000530277] |
Chr2:29920543 [GRCh38]
Chr2:30143409 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3938+1G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000545440] |
Chr2:29207170 [GRCh38]
Chr2:29430036 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1414C>T (p.Arg472Trp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000548308] |
Chr2:29328350 [GRCh38]
Chr2:29551216 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.781C>T (p.Arg261Ter) |
single nucleotide variant |
ALK-related condition [RCV003409805]|Neuroblastoma, susceptibility to, 3 [RCV000550182] |
Chr2:29717584 [GRCh38]
Chr2:29940450 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3055G>A (p.Val1019Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000546699] |
Chr2:29226934 [GRCh38]
Chr2:29449800 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.523A>G (p.Ser175Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002256383]|Neuroblastoma, susceptibility to, 3 [RCV000547009] |
Chr2:29920137 [GRCh38]
Chr2:30143003 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4824T>C (p.Ile1608=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001504501] |
Chr2:29193263 [GRCh38]
Chr2:29416129 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3358C>T (p.Arg1120Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000561972]|Neuroblastoma, susceptibility to, 3 [RCV000810439]|not specified [RCV001844203] |
Chr2:29223343 [GRCh38]
Chr2:29446209 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1507G>A (p.Val503Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002395431]|Neuroblastoma, susceptibility to, 3 [RCV000551942]|not provided [RCV003488682] |
Chr2:29320790 [GRCh38]
Chr2:29543656 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3812T>A (p.Phe1271Tyr) |
single nucleotide variant |
ALK-related condition [RCV003403321]|Neuroblastoma, susceptibility to, 3 [RCV000526501] |
Chr2:29209810 [GRCh38]
Chr2:29432676 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4671A>G (p.Leu1557=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565149]|Neuroblastoma, susceptibility to, 3 [RCV001474162] |
Chr2:29193416 [GRCh38]
Chr2:29416282 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.270_297dup (p.Arg100fs) |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV000545479] |
Chr2:29920362..29920363 [GRCh38]
Chr2:30143228..30143229 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4185C>T (p.Thr1395=) |
single nucleotide variant |
ALK-related condition [RCV003962545]|Hereditary cancer-predisposing syndrome [RCV002256382]|Neuroblastoma, susceptibility to, 3 [RCV000549470] |
Chr2:29193902 [GRCh38]
Chr2:29416768 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.543C>T (p.Gly181=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000555042] |
Chr2:29920117 [GRCh38]
Chr2:30142983 [GRCh37]
Chr2:2p23.1 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.1962C>A (p.Asn654Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002420485]|Neuroblastoma, susceptibility to, 3 [RCV000545962] |
Chr2:29275178 [GRCh38]
Chr2:29498044 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.432G>A (p.Glu144=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002329604]|Neuroblastoma, susceptibility to, 3 [RCV001494725] |
Chr2:29920228 [GRCh38]
Chr2:30143094 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3132C>T (p.Leu1044=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002257824]|Neuroblastoma, susceptibility to, 3 [RCV000543366] |
Chr2:29225501 [GRCh38]
Chr2:29448367 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.385G>A (p.Gly129Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003380620]|Neuroblastoma, susceptibility to, 3 [RCV000544098]|not provided [RCV003231645] |
Chr2:29920275 [GRCh38]
Chr2:30143141 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3172+10_3172+11del |
microsatellite |
Neuroblastoma, susceptibility to, 3 [RCV000544871] |
Chr2:29225450..29225451 [GRCh38]
Chr2:29448316..29448317 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2337A>C (p.Gly779=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002257822]|Neuroblastoma, susceptibility to, 3 [RCV000542342] |
Chr2:29239698 [GRCh38]
Chr2:29462564 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2479G>A (p.Val827Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002456188]|Neuroblastoma, susceptibility to, 3 [RCV000542818] |
Chr2:29233573 [GRCh38]
Chr2:29456439 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1183C>T (p.Arg395Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002255453]|Neuroblastoma, susceptibility to, 3 [RCV000542876] |
Chr2:29383831 [GRCh38]
Chr2:29606697 [GRCh37]
Chr2:2p23.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004304.5(ALK):c.663G>C (p.Gly221=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002367905]|Neuroblastoma, susceptibility to, 3 [RCV000530274] |
Chr2:29919997 [GRCh38]
Chr2:30142863 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4521C>T (p.Tyr1507=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002341396]|Neuroblastoma, susceptibility to, 3 [RCV000546014] |
Chr2:29193566 [GRCh38]
Chr2:29416432 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4227G>T (p.Glu1409Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000524704] |
Chr2:29193860 [GRCh38]
Chr2:29416726 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3788G>T (p.Gly1263Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003302866]|Neuroblastoma, susceptibility to, 3 [RCV000525158] |
Chr2:29209834 [GRCh38]
Chr2:29432700 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3798C>A (p.Ala1266=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000542294] |
Chr2:29209824 [GRCh38]
Chr2:29432690 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3810C>T (p.Asp1270=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021209]|Neuroblastoma, susceptibility to, 3 [RCV000550363] |
Chr2:29209812 [GRCh38]
Chr2:29432678 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2803G>A (p.Gly935Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000548225] |
Chr2:29228896 [GRCh38]
Chr2:29451762 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.474del (p.Glu160fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV000528506] |
Chr2:29920186 [GRCh38]
Chr2:30143052 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.140C>T (p.Ser47Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000551780]|not provided [RCV001356620] |
Chr2:29920520 [GRCh38]
Chr2:30143386 [GRCh37]
Chr2:2p23.1 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.679T>C (p.Leu227=) |
single nucleotide variant |
ALK-related condition [RCV003962546]|Hereditary cancer-predisposing syndrome [RCV002367906]|Neuroblastoma, susceptibility to, 3 [RCV000542877] |
Chr2:29717686 [GRCh38]
Chr2:29940552 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3635G>C (p.Arg1212Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002456193]|Neuroblastoma, susceptibility to, 3 [RCV000546309] |
Chr2:29220716 [GRCh38]
Chr2:29443582 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.953-8C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001454643] |
Chr2:29532124 [GRCh38]
Chr2:29754990 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4567G>C (p.Ala1523Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000549656] |
Chr2:29193520 [GRCh38]
Chr2:29416386 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4738G>A (p.Gly1580Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000552359]|not provided [RCV003148781] |
Chr2:29193349 [GRCh38]
Chr2:29416215 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3524A>G (p.Asn1175Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002257826]|Neuroblastoma, susceptibility to, 3 [RCV000530057] |
Chr2:29220827 [GRCh38]
Chr2:29443693 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1912+10C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001494234] |
Chr2:29275392 [GRCh38]
Chr2:29498258 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2074G>A (p.Gly692Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000530163] |
Chr2:29251235 [GRCh38]
Chr2:29474101 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.231C>T (p.Ser77=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001015174]|Neuroblastoma, susceptibility to, 3 [RCV000525356] |
Chr2:29920429 [GRCh38]
Chr2:30143295 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.2263C>A (p.His755Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002448743]|Neuroblastoma, susceptibility to, 3 [RCV000547844] |
Chr2:29239772 [GRCh38]
Chr2:29462638 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3421G>A (p.Asp1141Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002456189]|Neuroblastoma, susceptibility to, 3 [RCV000527321]|not specified [RCV000780827] |
Chr2:29222546 [GRCh38]
Chr2:29445412 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| Single allele |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV000548052] |
Chr2:29193218..29383865 [GRCh38]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4601G>A (p.Gly1534Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000525807] |
Chr2:29193486 [GRCh38]
Chr2:29416352 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.87G>C (p.Ala29=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002377125]|Neuroblastoma, susceptibility to, 3 [RCV000552901] |
Chr2:29920573 [GRCh38]
Chr2:30143439 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.574G>A (p.Glu192Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000531215] |
Chr2:29920086 [GRCh38]
Chr2:30142952 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3595A>C (p.Met1199Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020679]|Neuroblastoma, susceptibility to, 3 [RCV000531281] |
Chr2:29220756 [GRCh38]
Chr2:29443622 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4656G>A (p.Gly1552=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002341398]|Neuroblastoma, susceptibility to, 3 [RCV000551000]|not provided [RCV003409804] |
Chr2:29193431 [GRCh38]
Chr2:29416297 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3300C>T (p.Gly1100=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000566665]|Neuroblastoma, susceptibility to, 3 [RCV000647401] |
Chr2:29223401 [GRCh38]
Chr2:29446267 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2759G>A (p.Gly920Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002438455]|Neuroblastoma, susceptibility to, 3 [RCV000551558] |
Chr2:29228940 [GRCh38]
Chr2:29451806 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.234G>A (p.Ser78=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002448746]|Neuroblastoma, susceptibility to, 3 [RCV000526559] |
Chr2:29920426 [GRCh38]
Chr2:30143292 [GRCh37]
Chr2:2p23.1 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.3330G>C (p.Glu1110Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000564507]|Neuroblastoma, susceptibility to, 3 [RCV000549830] |
Chr2:29223371 [GRCh38]
Chr2:29446237 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln) |
single nucleotide variant |
Breast neoplasm [RCV000423720]|Hereditary cancer-predisposing syndrome [RCV002354167]|Neoplasm of brain [RCV000440978]|Neuroblastoma [RCV000432041]|Neuroblastoma, susceptibility to, 3 [RCV000019709]|not provided [RCV001268655] |
Chr2:29209798 [GRCh38]
Chr2:29432664 [GRCh37]
Chr2:2p23.2 |
pathogenic|likely pathogenic|risk factor|conflicting data from submitters |
| NM_004304.5(ALK):c.3383G>C (p.Gly1128Ala) |
single nucleotide variant |
Neoplasm of brain [RCV000421391]|Neuroblastoma [RCV000438595]|Neuroblastoma, susceptibility to, 3 [RCV000019710] |
Chr2:29222584 [GRCh38]
Chr2:29445450 [GRCh37]
Chr2:2p23.2 |
pathogenic|likely pathogenic|risk factor|conflicting data from submitters |
| NM_004304.5(ALK):c.3575G>C (p.Arg1192Pro) |
single nucleotide variant |
Neoplasm of brain [RCV000422453]|Neuroblastoma [RCV000427890]|Neuroblastoma, susceptibility to, 3 [RCV000019711] |
Chr2:29220776 [GRCh38]
Chr2:29443642 [GRCh37]
Chr2:2p23.2 |
pathogenic|likely pathogenic|risk factor|conflicting data from submitters |
| NM_004304.5(ALK):c.3452C>T (p.Thr1151Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020341]|Neuroblastoma [RCV000439097]|Neuroblastoma, susceptibility to, 3 [RCV000019712] |
Chr2:29222407 [GRCh38]
Chr2:29445273 [GRCh37]
Chr2:2p23.2 |
pathogenic|risk factor|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_004304.5(ALK):c.3260C>T (p.Thr1087Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000020581]|Ovarian cancer [RCV003153305]|not provided [RCV000997104] |
Chr2:29223441 [GRCh38]
Chr2:29446307 [GRCh37]
Chr2:2p23.2 |
pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004304.5(ALK):c.3749T>C (p.Ile1250Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002345252]|Neuroblastoma [RCV000440760]|Neuroblastoma, susceptibility to, 3 [RCV000021080] |
Chr2:29209873 [GRCh38]
Chr2:29432739 [GRCh37]
Chr2:2p23.2 |
pathogenic|likely pathogenic|uncertain significance |
| NM_004304.4(ALK):c.1283-21277A>C |
single nucleotide variant |
Lung cancer [RCV000091993] |
Chr2:29349758 [GRCh38]
Chr2:29572624 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.4(ALK):c.1155-26107G>A |
single nucleotide variant |
Lung cancer [RCV000091994] |
Chr2:29409966 [GRCh38]
Chr2:29632832 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.4(ALK):c.1155-66665C>T |
single nucleotide variant |
Lung cancer [RCV000091995] |
Chr2:29450524 [GRCh38]
Chr2:29673390 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.4(ALK):c.1155-72195C>A |
single nucleotide variant |
Lung cancer [RCV000091996] |
Chr2:29456054 [GRCh38]
Chr2:29678920 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.4(ALK):c.1154+37286C>G |
single nucleotide variant |
Lung cancer [RCV000091997] |
Chr2:29494629 [GRCh38]
Chr2:29717495 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| GRCh38/hg38 2p25.3-23.1(chr2:30141-31766749)x3 |
copy number gain |
See cases [RCV000052929] |
Chr2:30141..31766749 [GRCh38]
Chr2:30141..31991818 [GRCh37]
Chr2:20141..31845322 [NCBI36]
Chr2:2p25.3-23.1 |
pathogenic |
| GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 |
copy number gain |
See cases [RCV000052933] |
Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1 |
pathogenic |
| NM_004304.4(ALK):c.1965G>T (p.Leu655=) |
single nucleotide variant |
Malignant melanoma [RCV000065547] |
Chr2:29275175 [GRCh38]
Chr2:29498041 [GRCh37]
Chr2:29351545 [NCBI36]
Chr2:2p23.2 |
not provided |
| NM_004304.4(ALK):c.1964T>G (p.Leu655Arg) |
single nucleotide variant |
Malignant melanoma [RCV000065548] |
Chr2:29275176 [GRCh38]
Chr2:29498042 [GRCh37]
Chr2:29351546 [NCBI36]
Chr2:2p23.2 |
not provided |
| NM_004304.4(ALK):c.1484C>T (p.Ser495Leu) |
single nucleotide variant |
Malignant melanoma [RCV000065549] |
Chr2:29320813 [GRCh38]
Chr2:29543679 [GRCh37]
Chr2:29397183 [NCBI36]
Chr2:2p23.2 |
not provided |
| NM_004304.5(ALK):c.3635G>A (p.Arg1212His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020772]|Neuroblastoma, susceptibility to, 3 [RCV000647445] |
Chr2:29220716 [GRCh38]
Chr2:29443582 [GRCh37]
Chr2:29297086 [NCBI36]
Chr2:2p23.2 |
uncertain significance|not provided |
| NM_004304.4(ALK):c.1997C>T (p.Pro666Leu) |
single nucleotide variant |
Malignant melanoma [RCV000060550] |
Chr2:29275143 [GRCh38]
Chr2:29498009 [GRCh37]
Chr2:29351513 [NCBI36]
Chr2:2p23.2 |
not provided |
| NM_004304.4(ALK):c.986C>T (p.Ser329Phe) |
single nucleotide variant |
Malignant melanoma [RCV000060551] |
Chr2:29532083 [GRCh38]
Chr2:29754949 [GRCh37]
Chr2:29608453 [NCBI36]
Chr2:2p23.2 |
not provided |
| NM_004304.5(ALK):c.3520T>G (p.Phe1174Val) |
single nucleotide variant |
Neuroblastoma [RCV000434983]|Neuroblastoma, susceptibility to, 3 [RCV000055894] |
Chr2:29220831 [GRCh38]
Chr2:29443697 [GRCh37]
Chr2:2p23.2 |
pathogenic |
| NM_004304.5(ALK):c.3733T>G (p.Phe1245Val) |
single nucleotide variant |
Neuroblastoma [RCV000426209]|Neuroblastoma, susceptibility to, 3 [RCV000055895] |
Chr2:29213994 [GRCh38]
Chr2:29436860 [GRCh37]
Chr2:2p23.2 |
pathogenic|not provided |
| inv(2)(p21p23.2) |
inversion |
Endometrial carcinoma [RCV000659263] |
Chr2:29447680..42554394 [GRCh37]
Chr2:2p23.2-21 |
likely pathogenic |
| NM_004304.5(ALK):c.106C>T (p.Pro36Ser) |
single nucleotide variant |
ALK-related condition [RCV003935134]|Hereditary cancer-predisposing syndrome [RCV002256049]|Neuroblastoma, susceptibility to, 3 [RCV000459437]|not provided [RCV001697142]|not specified [RCV000119961] |
Chr2:29920554 [GRCh38]
Chr2:30143420 [GRCh37]
Chr2:2p23.1 |
likely benign|not provided |
| NM_004304.5(ALK):c.522C>A (p.Phe174Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002258794]|Neuroblastoma, susceptibility to, 3 [RCV000647378]|not provided [RCV003332121]|not specified [RCV000119962] |
Chr2:29920138 [GRCh38]
Chr2:30143004 [GRCh37]
Chr2:2p23.1 |
uncertain significance|not provided |
| NM_004304.5(ALK):c.487G>T (p.Val163Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002255288]|Neuroblastoma, susceptibility to, 3 [RCV000470397]|not specified [RCV000119963] |
Chr2:29920173 [GRCh38]
Chr2:30143039 [GRCh37]
Chr2:2p23.1 |
benign|likely benign|not provided |
| NM_004304.5(ALK):c.592G>A (p.Val198Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002255289]|Neuroblastoma, susceptibility to, 3 [RCV000227457]|not specified [RCV000119964] |
Chr2:29920068 [GRCh38]
Chr2:30142934 [GRCh37]
Chr2:2p23.1 |
benign|likely benign|not provided |
| NM_004304.5(ALK):c.1943C>T (p.Thr648Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013797]|Neuroblastoma, susceptibility to, 3 [RCV000468691]|not provided [RCV001704028]|not specified [RCV000119965] |
Chr2:29275197 [GRCh38]
Chr2:29498063 [GRCh37]
Chr2:2p23.2 |
benign|likely benign|not provided |
| NM_004304.5(ALK):c.2039C>T (p.Thr680Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000567568]|Neuroblastoma, susceptibility to, 3 [RCV000463467]|not provided [RCV000589416]|not specified [RCV000119966] |
Chr2:29275101 [GRCh38]
Chr2:29497967 [GRCh37]
Chr2:2p23.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_004304.5(ALK):c.2127C>A (p.Asn709Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002255290]|Neuroblastoma, susceptibility to, 3 [RCV000463314]|not specified [RCV000119967] |
Chr2:29251182 [GRCh38]
Chr2:29474048 [GRCh37]
Chr2:2p23.2 |
benign|likely benign|not provided |
| NM_004304.5(ALK):c.2577G>C (p.Glu859Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002255130]|Neuroblastoma, susceptibility to, 3 [RCV000226467]|not provided [RCV003415905]|not specified [RCV000119968] |
Chr2:29232359 [GRCh38]
Chr2:29455225 [GRCh37]
Chr2:2p23.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_004304.5(ALK):c.3035C>T (p.Thr1012Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569647]|Neuroblastoma, susceptibility to, 3 [RCV001081880]|not provided [RCV000841326]|not specified [RCV000119969] |
Chr2:29226954 [GRCh38]
Chr2:29449820 [GRCh37]
Chr2:2p23.2 |
benign|likely benign|not provided |
| NM_004304.5(ALK):c.3031G>A (p.Gly1011Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000529391]|not specified [RCV000119970] |
Chr2:29226958 [GRCh38]
Chr2:29449824 [GRCh37]
Chr2:2p23.2 |
uncertain significance|not provided |
| NM_004304.5(ALK):c.3080C>T (p.Pro1027Leu) |
single nucleotide variant |
ALK-related condition [RCV003952583]|Hereditary cancer-predisposing syndrome [RCV002257413]|Neuroblastoma, susceptibility to, 3 [RCV000475908]|not provided [RCV002266923]|not specified [RCV000119971] |
Chr2:29225553 [GRCh38]
Chr2:29448419 [GRCh37]
Chr2:2p23.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_004304.5(ALK):c.3139G>A (p.Ala1047Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018784]|Neuroblastoma, susceptibility to, 3 [RCV000465205]|not specified [RCV000119972] |
Chr2:29225494 [GRCh38]
Chr2:29448360 [GRCh37]
Chr2:2p23.2 |
benign|likely benign|not provided |
| NM_004304.5(ALK):c.776G>A (p.Arg259His) |
single nucleotide variant |
ALK-related condition [RCV003945064]|Hereditary cancer-predisposing syndrome [RCV002256050]|Neuroblastoma, susceptibility to, 3 [RCV000465029]|not provided [RCV001697143]|not specified [RCV000119973] |
Chr2:29717589 [GRCh38]
Chr2:29940455 [GRCh37]
Chr2:2p23.2 |
benign|likely benign|uncertain significance|not provided |
| NM_004304.5(ALK):c.3182G>A (p.Arg1061Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002257414]|Neuroblastoma, susceptibility to, 3 [RCV000466193]|not provided [RCV002508194]|not specified [RCV000119974] |
Chr2:29223519 [GRCh38]
Chr2:29446385 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance|not provided |
| NM_004304.5(ALK):c.4381A>G (p.Ile1461Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000573143]|Neuroblastoma, susceptibility to, 3 [RCV000608829]|Squamous cell lung carcinoma [RCV001250949]|not provided [RCV000590065]|not specified [RCV000119976] |
Chr2:29193706 [GRCh38]
Chr2:29416572 [GRCh37]
Chr2:2p23.2 |
likely pathogenic|benign|not provided |
| NM_004304.5(ALK):c.4416A>T (p.Glu1472Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000544681]|not specified [RCV000119977] |
Chr2:29193671 [GRCh38]
Chr2:29416537 [GRCh37]
Chr2:2p23.2 |
uncertain significance|not provided |
| NM_004304.5(ALK):c.4472A>G (p.Lys1491Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569094]|Neuroblastoma, susceptibility to, 3 [RCV000605771]|Squamous cell lung carcinoma [RCV001250936]|not provided [RCV000586542]|not specified [RCV000119978] |
Chr2:29193615 [GRCh38]
Chr2:29416481 [GRCh37]
Chr2:2p23.2 |
likely pathogenic|benign|not provided |
| NM_004304.5(ALK):c.4573A>G (p.Lys1525Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000228272]|not specified [RCV000119979] |
Chr2:29193514 [GRCh38]
Chr2:29416380 [GRCh37]
Chr2:2p23.2 |
benign|likely benign|not provided |
| NM_004304.5(ALK):c.4587C>G (p.Asp1529Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562954]|Neuroblastoma, susceptibility to, 3 [RCV000616049]|Squamous cell lung carcinoma [RCV001250937]|not provided [RCV000588550]|not specified [RCV000119980] |
Chr2:29193500 [GRCh38]
Chr2:29416366 [GRCh37]
Chr2:2p23.2 |
likely pathogenic|benign|not provided |
| NM_004304.5(ALK):c.4796C>A (p.Pro1599His) |
single nucleotide variant |
ALK-related condition [RCV003935135]|Hereditary cancer-predisposing syndrome [RCV002257415]|Neuroblastoma, susceptibility to, 3 [RCV000472979]|not provided [RCV001356607]|not specified [RCV000119981] |
Chr2:29193291 [GRCh38]
Chr2:29416157 [GRCh37]
Chr2:2p23.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_004304.5(ALK):c.4186G>A (p.Ala1396Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002257416]|Neuroblastoma, susceptibility to, 3 [RCV001087719]|not provided [RCV000731883]|not specified [RCV000119982] |
Chr2:29193901 [GRCh38]
Chr2:29416767 [GRCh37]
Chr2:2p23.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_004304.5(ALK):c.4255G>A (p.Glu1419Lys) |
single nucleotide variant |
ALK-related condition [RCV003952584]|Hereditary cancer-predisposing syndrome [RCV001022153]|Neuroblastoma, susceptibility to, 3 [RCV000234168]|not provided [RCV003237719]|not specified [RCV000119983] |
Chr2:29193832 [GRCh38]
Chr2:29416698 [GRCh37]
Chr2:2p23.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_004304.5(ALK):c.932G>A (p.Arg311His) |
single nucleotide variant |
ALK-related condition [RCV003905136]|Hereditary cancer-predisposing syndrome [RCV002255291]|Neuroblastoma, susceptibility to, 3 [RCV000233768]|not provided [RCV001575009]|not specified [RCV000119984] |
Chr2:29694870 [GRCh38]
Chr2:29917736 [GRCh37]
Chr2:2p23.2 |
benign|likely benign|uncertain significance|not provided |
| NM_004304.5(ALK):c.808T>C (p.Phe270Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000463094]|not provided [RCV003126501]|not specified [RCV000119985] |
Chr2:29694994 [GRCh38]
Chr2:29917860 [GRCh37]
Chr2:2p23.2 |
uncertain significance|not provided |
| NM_004304.5(ALK):c.1100C>G (p.Pro367Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002256051]|Neuroblastoma, susceptibility to, 3 [RCV000460983]|not provided [RCV003223611]|not specified [RCV000119986] |
Chr2:29531969 [GRCh38]
Chr2:29754835 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance|not provided |
| NM_004304.5(ALK):c.1111G>A (p.Ala371Thr) |
single nucleotide variant |
ALK-related condition [RCV003965005]|Hereditary cancer-predisposing syndrome [RCV002255292]|Neuroblastoma, susceptibility to, 3 [RCV000531158]|Ovarian cancer [RCV003153381]|not specified [RCV000119987] |
Chr2:29531958 [GRCh38]
Chr2:29754824 [GRCh37]
Chr2:2p23.2 |
benign|likely benign|not provided |
| NM_004304.5(ALK):c.1215A>T (p.Glu405Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000471259]|not provided [RCV001357328]|not specified [RCV000119988] |
Chr2:29383799 [GRCh38]
Chr2:29606665 [GRCh37]
Chr2:2p23.2 |
likely benign|not provided |
| NM_004304.5(ALK):c.1427T>C (p.Val476Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000566776]|Neuroblastoma, susceptibility to, 3 [RCV000470544]|not provided [RCV000589563]|not specified [RCV000119989] |
Chr2:29320870 [GRCh38]
Chr2:29543736 [GRCh37]
Chr2:2p23.2 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
| NM_004304.5(ALK):c.4297GAG[2] (p.Glu1435del) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV001022251]|Neuroblastoma Susceptibility [RCV000306508]|Neuroblastoma, susceptibility to, 3 [RCV000230850]|not provided [RCV001356162]|not specified [RCV000119975] |
Chr2:29193782..29193784 [GRCh38]
Chr2:29416648..29416650 [GRCh37]
Chr2:2p23.2 |
likely pathogenic|benign|likely benign|not provided |
| NM_004304.5(ALK):c.3172+347G>A |
single nucleotide variant |
not provided [RCV002293012] |
Chr2:29225114 [GRCh38]
Chr2:29447980 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.2488-2A>G |
single nucleotide variant |
not provided [RCV003224026] |
Chr2:29232450 [GRCh38]
Chr2:29455316 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4248G>C (p.Lys1416Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001348679] |
Chr2:29193839 [GRCh38]
Chr2:29416705 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4625del (p.Pro1542fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001348396] |
Chr2:29193462 [GRCh38]
Chr2:29416328 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2731A>C (p.Lys911Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001303027] |
Chr2:29228968 [GRCh38]
Chr2:29451834 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NC_000002.12:g.29207270_29207273del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001312703] |
Chr2:29207269..29207272 [GRCh38]
Chr2:29430135..29430138 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1085T>C (p.Ile362Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002430104]|Neuroblastoma, susceptibility to, 3 [RCV001302450] |
Chr2:29531984 [GRCh38]
Chr2:29754850 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.208G>A (p.Asp70Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001348066] |
Chr2:29920452 [GRCh38]
Chr2:30143318 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3685G>A (p.Val1229Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002453730]|Neuroblastoma, susceptibility to, 3 [RCV000201876] |
Chr2:29214042 [GRCh38]
Chr2:29436908 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3522C>A (p.Phe1174Leu) |
single nucleotide variant |
Benign Soft Tissue Neoplasm of Uncertain Differentiation [RCV000435780]|Lung adenocarcinoma [RCV000426846]|Neuroblastoma [RCV000444781]|Neuroblastoma, susceptibility to, 3 [RCV000201882]|Non-small cell lung carcinoma [RCV000418576] |
Chr2:29220829 [GRCh38]
Chr2:29443695 [GRCh37]
Chr2:2p23.2 |
pathogenic|likely pathogenic|not provided |
| NM_004304.5(ALK):c.3520T>C (p.Phe1174Leu) |
single nucleotide variant |
Neuroblastoma [RCV000421904]|Neuroblastoma, susceptibility to, 3 [RCV000201883] |
Chr2:29220831 [GRCh38]
Chr2:29443697 [GRCh37]
Chr2:2p23.2 |
pathogenic|likely pathogenic |
| NM_004304.5(ALK):c.3734T>G (p.Phe1245Cys) |
single nucleotide variant |
Neuroblastoma [RCV000444691]|Neuroblastoma, susceptibility to, 3 [RCV000201887] |
Chr2:29213993 [GRCh38]
Chr2:29436859 [GRCh37]
Chr2:2p23.2 |
pathogenic |
| NM_004304.5(ALK):c.3833A>C (p.Tyr1278Ser) |
single nucleotide variant |
Neuroblastoma [RCV000421376]|Neuroblastoma, susceptibility to, 3 [RCV000201889] |
Chr2:29209789 [GRCh38]
Chr2:29432655 [GRCh37]
Chr2:2p23.2 |
pathogenic |
| NM_004304.5(ALK):c.3522C>G (p.Phe1174Leu) |
single nucleotide variant |
Lung adenocarcinoma [RCV000442440]|Neuroblastoma [RCV000427324]|Neuroblastoma, susceptibility to, 3 [RCV000201904] |
Chr2:29220829 [GRCh38]
Chr2:29443695 [GRCh37]
Chr2:2p23.2 |
pathogenic|likely pathogenic |
| NM_004304.5(ALK):c.3718T>G (p.Leu1240Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000201906] |
Chr2:29214009 [GRCh38]
Chr2:29436875 [GRCh37]
Chr2:2p23.2 |
likely pathogenic |
| NM_004304.5(ALK):c.3735C>A (p.Phe1245Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000201908] |
Chr2:29213992 [GRCh38]
Chr2:29436858 [GRCh37]
Chr2:2p23.2 |
pathogenic |
| NM_004304.5(ALK):c.3520T>A (p.Phe1174Ile) |
single nucleotide variant |
Neuroblastoma [RCV000417766]|Neuroblastoma, susceptibility to, 3 [RCV000201918] |
Chr2:29220831 [GRCh38]
Chr2:29443697 [GRCh37]
Chr2:2p23.2 |
pathogenic |
| NM_004304.5(ALK):c.3733T>A (p.Phe1245Ile) |
single nucleotide variant |
Neuroblastoma [RCV000439786]|Neuroblastoma, susceptibility to, 3 [RCV000201924] |
Chr2:29213994 [GRCh38]
Chr2:29436860 [GRCh37]
Chr2:2p23.2 |
pathogenic|likely pathogenic |
| NM_004304.5(ALK):c.321G>A (p.Gly107=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002324097]|Neuroblastoma, susceptibility to, 3 [RCV001493931] |
Chr2:29920339 [GRCh38]
Chr2:30143205 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1702C>A (p.Leu568Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001348101] |
Chr2:29297003 [GRCh38]
Chr2:29519869 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4405C>T (p.Pro1469Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001312771] |
Chr2:29193682 [GRCh38]
Chr2:29416548 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| GRCh38/hg38 2p23.1(chr2:29907153-30845898)x3 |
copy number gain |
See cases [RCV000136571] |
Chr2:29907153..30845898 [GRCh38]
Chr2:30130019..31068764 [GRCh37]
Chr2:29983523..30922268 [NCBI36]
Chr2:2p23.1 |
uncertain significance |
| GRCh38/hg38 2p23.2-23.1(chr2:29578407-29941203)x1 |
copy number loss |
See cases [RCV000136852] |
Chr2:29578407..29941203 [GRCh38]
Chr2:29801273..30164069 [GRCh37]
Chr2:29654777..30017573 [NCBI36]
Chr2:2p23.2-23.1 |
benign |
| GRCh38/hg38 2p23.2(chr2:28574111-29442195)x3 |
copy number gain |
See cases [RCV000138140] |
Chr2:28574111..29442195 [GRCh38]
Chr2:28796978..29665061 [GRCh37]
Chr2:28650482..29518565 [NCBI36]
Chr2:2p23.2 |
uncertain significance |
| GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3 |
copy number gain |
See cases [RCV000141829] |
Chr2:12770..33711509 [GRCh38]
Chr2:12770..33936576 [GRCh37]
Chr2:2770..33790080 [NCBI36]
Chr2:2p25.3-22.3 |
pathogenic |
| GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 |
copy number gain |
See cases [RCV000141494] |
Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2 |
benign |
| GRCh38/hg38 2p23.2(chr2:28561270-29446956)x3 |
copy number gain |
See cases [RCV000142312] |
Chr2:28561270..29446956 [GRCh38]
Chr2:28784137..29669822 [GRCh37]
Chr2:28637641..29523326 [NCBI36]
Chr2:2p23.2 |
uncertain significance |
| GRCh38/hg38 2p23.2(chr2:28557445-29437643)x3 |
copy number gain |
See cases [RCV000143354] |
Chr2:28557445..29437643 [GRCh38]
Chr2:28780312..29660509 [GRCh37]
Chr2:28633816..29514013 [NCBI36]
Chr2:2p23.2 |
uncertain significance |
| GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 |
copy number gain |
See cases [RCV000143682] |
Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21 |
pathogenic |
| NM_004304.5(ALK):c.3271G>A (p.Asp1091Asn) |
single nucleotide variant |
Familial isolated pituitary adenoma [RCV000761080]|Neuroblastoma [RCV000420164]|Neuroblastoma, susceptibility to, 3 [RCV000647422]|not specified [RCV000202983] |
Chr2:29223430 [GRCh38]
Chr2:29446296 [GRCh37]
Chr2:2p23.2 |
pathogenic|uncertain significance |
| NM_004304.5(ALK):c.310C>A (p.Pro104Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002323541]|Neuroblastoma, susceptibility to, 3 [RCV000530879] |
Chr2:29920350 [GRCh38]
Chr2:30143216 [GRCh37]
Chr2:2p23.1 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.-751C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000263166] |
Chr2:29921410 [GRCh38]
Chr2:30144276 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.118C>T (p.Pro40Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000544242] |
Chr2:29920542 [GRCh38]
Chr2:30143408 [GRCh37]
Chr2:2p23.1 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.588G>A (p.Ser196=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002358555]|Neuroblastoma, susceptibility to, 3 [RCV000543819] |
Chr2:29920072 [GRCh38]
Chr2:30142938 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3888G>A (p.Met1296Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562466]|Neuroblastoma, susceptibility to, 3 [RCV003517225] |
Chr2:29207221 [GRCh38]
Chr2:29430087 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1720G>A (p.Gly574Arg) |
single nucleotide variant |
ALK-related condition [RCV003962544]|Diffuse midline glioma, H3 K27-altered [RCV003313100]|Hereditary cancer-predisposing syndrome [RCV002256381]|Neuroblastoma, susceptibility to, 3 [RCV000525971]|not provided [RCV003236815] |
Chr2:29296985 [GRCh38]
Chr2:29519851 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.2614G>A (p.Gly872Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000544275] |
Chr2:29232322 [GRCh38]
Chr2:29455188 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.107C>T (p.Pro36Leu) |
single nucleotide variant |
ALK-related condition [RCV003403320]|Hereditary cancer-predisposing syndrome [RCV002420484]|Neuroblastoma, susceptibility to, 3 [RCV000525534] |
Chr2:29920553 [GRCh38]
Chr2:30143419 [GRCh37]
Chr2:2p23.1 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.952G>A (p.Gly318Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000227659] |
Chr2:29694850 [GRCh38]
Chr2:29917716 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2750C>T (p.Thr917Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002518340]|Neuroblastoma, susceptibility to, 3 [RCV000227803] |
Chr2:29228949 [GRCh38]
Chr2:29451815 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3630G>A (p.Glu1210=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002450693]|Neuroblastoma, susceptibility to, 3 [RCV000229938] |
Chr2:29220721 [GRCh38]
Chr2:29443587 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.469C>T (p.Pro157Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001022915]|Neuroblastoma, susceptibility to, 3 [RCV000229990]|not provided [RCV001824304] |
Chr2:29920191 [GRCh38]
Chr2:30143057 [GRCh37]
Chr2:2p23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004304.5(ALK):c.2239G>A (p.Gly747Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002429113]|Neuroblastoma, susceptibility to, 3 [RCV000230160] |
Chr2:29239796 [GRCh38]
Chr2:29462662 [GRCh37]
Chr2:2p23.2 |
likely pathogenic|likely benign|uncertain significance |
| NM_004304.5(ALK):c.4275G>A (p.Leu1425=) |
single nucleotide variant |
ALK-related condition [RCV003417825]|Neuroblastoma, susceptibility to, 3 [RCV000228085]|not provided [RCV001566391] |
Chr2:29193812 [GRCh38]
Chr2:29416678 [GRCh37]
Chr2:2p23.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004304.5(ALK):c.336C>G (p.Ala112=) |
single nucleotide variant |
ALK-related condition [RCV003947778]|Hereditary cancer-predisposing syndrome [RCV002450691]|Neuroblastoma, susceptibility to, 3 [RCV000228585] |
Chr2:29920324 [GRCh38]
Chr2:30143190 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1067A>G (p.Gln356Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002411042]|Neuroblastoma, susceptibility to, 3 [RCV000230394] |
Chr2:29532002 [GRCh38]
Chr2:29754868 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.2772T>G (p.Gly924=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002436029]|Neuroblastoma, susceptibility to, 3 [RCV000230565] |
Chr2:29228927 [GRCh38]
Chr2:29451793 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.4518G>A (p.Thr1506=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002338731]|Neuroblastoma, susceptibility to, 3 [RCV000228662] |
Chr2:29193569 [GRCh38]
Chr2:29416435 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1755C>T (p.Ala585=) |
single nucleotide variant |
ALK-related condition [RCV003947776]|Hereditary cancer-predisposing syndrome [RCV002256159]|Neuroblastoma, susceptibility to, 3 [RCV000228838]|not provided [RCV003422146] |
Chr2:29296950 [GRCh38]
Chr2:29519816 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.1376A>G (p.Gln459Arg) |
single nucleotide variant |
ALK-related condition [RCV003417821]|Hereditary cancer-predisposing syndrome [RCV002378996]|Neuroblastoma, susceptibility to, 3 [RCV000231007] |
Chr2:29328388 [GRCh38]
Chr2:29551254 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.3030C>T (p.His1010=) |
single nucleotide variant |
ALK-related condition [RCV003977663]|Hereditary cancer-predisposing syndrome [RCV002256163]|Neuroblastoma, susceptibility to, 3 [RCV000231286]|not specified [RCV001193222] |
Chr2:29226959 [GRCh38]
Chr2:29449825 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.4536A>G (p.Thr1512=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002338732]|Neuroblastoma, susceptibility to, 3 [RCV000231575] |
Chr2:29193551 [GRCh38]
Chr2:29416417 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1917C>T (p.Ser639=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002411043]|Neuroblastoma, susceptibility to, 3 [RCV000231607] |
Chr2:29275223 [GRCh38]
Chr2:29498089 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1719C>T (p.Thr573=) |
single nucleotide variant |
ALK-related condition [RCV003919960]|Hereditary cancer-predisposing syndrome [RCV001012864]|Neuroblastoma, susceptibility to, 3 [RCV000229591]|not specified [RCV000421862] |
Chr2:29296986 [GRCh38]
Chr2:29519852 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.4811A>G (p.Tyr1604Cys) |
single nucleotide variant |
ALK-related condition [RCV003390993]|Hereditary cancer-predisposing syndrome [RCV002338734]|Neuroblastoma, susceptibility to, 3 [RCV000229633] |
Chr2:29193276 [GRCh38]
Chr2:29416142 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2478C>T (p.Tyr826=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565503]|Neuroblastoma, susceptibility to, 3 [RCV000229775]|not provided [RCV003417822] |
Chr2:29233574 [GRCh38]
Chr2:29456440 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.472C>A (p.Pro158Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000231787] |
Chr2:29920188 [GRCh38]
Chr2:30143054 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3257C>T (p.Ser1086Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002256164]|Neuroblastoma, susceptibility to, 3 [RCV000231894] |
Chr2:29223444 [GRCh38]
Chr2:29446310 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2343C>T (p.Asp781=) |
single nucleotide variant |
ALK-related condition [RCV003955343]|Hereditary cancer-predisposing syndrome [RCV002256161]|Neuroblastoma, susceptibility to, 3 [RCV000231960] |
Chr2:29239692 [GRCh38]
Chr2:29462558 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.618G>A (p.Ala206=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002354655]|Neuroblastoma, susceptibility to, 3 [RCV000230226] |
Chr2:29920042 [GRCh38]
Chr2:30142908 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.2148C>T (p.Ser716=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014575]|Neuroblastoma, susceptibility to, 3 [RCV000232345]|not specified [RCV000603884] |
Chr2:29251161 [GRCh38]
Chr2:29474027 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.3984G>A (p.Met1328Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002372276]|Neuroblastoma, susceptibility to, 3 [RCV000230663] |
Chr2:29197631 [GRCh38]
Chr2:29420497 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3354C>A (p.Leu1118=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020067]|Neuroblastoma, susceptibility to, 3 [RCV000225803] |
Chr2:29223347 [GRCh38]
Chr2:29446213 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.267C>A (p.Gly89=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001016307]|Neuroblastoma, susceptibility to, 3 [RCV000232770]|not provided [RCV001722240]|not specified [RCV001778817] |
Chr2:29920393 [GRCh38]
Chr2:30143259 [GRCh37]
Chr2:2p23.1 |
benign|likely benign |
| NM_004304.5(ALK):c.924G>A (p.Gly308=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002372277]|Neuroblastoma, susceptibility to, 3 [RCV000230959]|not provided [RCV003422148] |
Chr2:29694878 [GRCh38]
Chr2:29917744 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2676C>T (p.Ala892=) |
single nucleotide variant |
ALK-related condition [RCV003937903]|Hereditary cancer-predisposing syndrome [RCV000570706]|Neuroblastoma, susceptibility to, 3 [RCV000231088]|not provided [RCV001722239] |
Chr2:29229023 [GRCh38]
Chr2:29451889 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.4232T>C (p.Val1411Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000231377] |
Chr2:29193855 [GRCh38]
Chr2:29416721 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3600G>C (p.Ala1200=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000568764]|Neuroblastoma, susceptibility to, 3 [RCV000226022]|not provided [RCV001689759]|not specified [RCV000780826] |
Chr2:29220751 [GRCh38]
Chr2:29443617 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.4625C>T (p.Pro1542Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000226094] |
Chr2:29193462 [GRCh38]
Chr2:29416328 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2149G>A (p.Glu717Lys) |
single nucleotide variant |
ALK-related condition [RCV003955342]|Hereditary cancer-predisposing syndrome [RCV002256160]|Neuroblastoma, susceptibility to, 3 [RCV000226263]|not provided [RCV002305468]|not specified [RCV000507604] |
Chr2:29251160 [GRCh38]
Chr2:29474026 [GRCh37]
Chr2:2p23.2 |
benign|likely benign|uncertain significance |
| NM_004304.5(ALK):c.3552G>C (p.Gly1184=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002450692]|Neuroblastoma, susceptibility to, 3 [RCV000231498] |
Chr2:29220799 [GRCh38]
Chr2:29443665 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4570AAG[1] (p.Lys1525del) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV002257561]|Neuroblastoma, susceptibility to, 3 [RCV000226483]|not provided [RCV000486072] |
Chr2:29193512..29193514 [GRCh38]
Chr2:29416378..29416380 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4785C>T (p.Ala1595=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001023045]|Neuroblastoma, susceptibility to, 3 [RCV000226683]|not provided [RCV000858250]|not specified [RCV001818613] |
Chr2:29193302 [GRCh38]
Chr2:29416168 [GRCh37]
Chr2:2p23.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004304.5(ALK):c.4190T>C (p.Leu1397Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000233574] |
Chr2:29193897 [GRCh38]
Chr2:29416763 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4608G>A (p.Glu1536=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002338733]|Neuroblastoma, susceptibility to, 3 [RCV000232180] |
Chr2:29193479 [GRCh38]
Chr2:29416345 [GRCh37]
Chr2:2p23.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_004304.5(ALK):c.2451C>T (p.Gly817=) |
single nucleotide variant |
ALK-related condition [RCV003929967]|Hereditary cancer-predisposing syndrome [RCV002256162]|Neuroblastoma, susceptibility to, 3 [RCV000226858]|not specified [RCV000609992] |
Chr2:29233601 [GRCh38]
Chr2:29456467 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.702T>G (p.Pro234=) |
single nucleotide variant |
ALK-related condition [RCV003897550]|Hereditary cancer-predisposing syndrome [RCV002257562]|Neuroblastoma, susceptibility to, 3 [RCV001084601]|not provided [RCV000843898] |
Chr2:29717663 [GRCh38]
Chr2:29940529 [GRCh37]
Chr2:2p23.2 |
likely pathogenic|likely benign |
| NM_004304.5(ALK):c.4407G>A (p.Pro1469=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002255140]|Neuroblastoma, susceptibility to, 3 [RCV000986609] |
Chr2:29193680 [GRCh38]
Chr2:29416546 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.1648-10G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002257556]|Neuroblastoma, susceptibility to, 3 [RCV000233806]|not provided [RCV001697612] |
Chr2:29297067 [GRCh38]
Chr2:29519933 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.2526C>T (p.Ala842=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001015836]|Neuroblastoma, susceptibility to, 3 [RCV000232562]|not provided [RCV003417823] |
Chr2:29232410 [GRCh38]
Chr2:29455276 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.3837-9_3837-7dup |
duplication |
Familial isolated pituitary adenoma [RCV000761110]|Hereditary cancer-predisposing syndrome [RCV002257560]|Neuroblastoma, susceptibility to, 3 [RCV000232858]|not provided [RCV001697260]|not specified [RCV000484508] |
Chr2:29207278..29207279 [GRCh38]
Chr2:29430144..29430145 [GRCh37]
Chr2:2p23.2 |
benign|likely benign|uncertain significance |
| NM_004304.5(ALK):c.121C>T (p.Arg41Trp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000234239] |
Chr2:29920539 [GRCh38]
Chr2:30143405 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.645T>C (p.Leu215=) |
single nucleotide variant |
ALK-related condition [RCV003937904]|Hereditary cancer-predisposing syndrome [RCV000570046]|Neuroblastoma, susceptibility to, 3 [RCV000233163]|not specified [RCV000610973] |
Chr2:29920015 [GRCh38]
Chr2:30142881 [GRCh37]
Chr2:2p23.1 |
benign|likely benign |
| NM_004304.5(ALK):c.3600G>A (p.Ala1200=) |
single nucleotide variant |
ALK-related condition [RCV003977664]|Hereditary cancer-predisposing syndrome [RCV000561311]|Neuroblastoma, susceptibility to, 3 [RCV000233243]|not provided [RCV003417824] |
Chr2:29220751 [GRCh38]
Chr2:29443617 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.2613C>T (p.Asn871=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002257557]|Neuroblastoma, susceptibility to, 3 [RCV000233282]|not provided [RCV003422147] |
Chr2:29232323 [GRCh38]
Chr2:29455189 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.3939-8A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000227757]|not specified [RCV000421615] |
Chr2:29197684 [GRCh38]
Chr2:29420550 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.4836G>A (p.Lys1612=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001023131]|Neuroblastoma, susceptibility to, 3 [RCV000233548]|not specified [RCV000606792] |
Chr2:29193251 [GRCh38]
Chr2:29416117 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.3067G>A (p.Val1023Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000234086] |
Chr2:29226922 [GRCh38]
Chr2:29449788 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2133C>T (p.Ser711=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014564]|Neuroblastoma, susceptibility to, 3 [RCV001083122]|not provided [RCV000843946]|not specified [RCV003230462] |
Chr2:29251176 [GRCh38]
Chr2:29474042 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.2928C>T (p.His976=) |
single nucleotide variant |
ALK-related condition [RCV003947777]|Hereditary cancer-predisposing syndrome [RCV002257558]|Neuroblastoma, susceptibility to, 3 [RCV000228378] |
Chr2:29227061 [GRCh38]
Chr2:29449927 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.3594C>T (p.Leu1198=) |
single nucleotide variant |
ALK-related condition [RCV003929968]|Hereditary cancer-predisposing syndrome [RCV000563440]|Neuroblastoma, susceptibility to, 3 [RCV000226417]|not provided [RCV000858451]|not specified [RCV000440731] |
Chr2:29220757 [GRCh38]
Chr2:29443623 [GRCh37]
Chr2:2p23.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_004304.5(ALK):c.2011C>T (p.Pro671Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000234538]|not specified [RCV001354915] |
Chr2:29275129 [GRCh38]
Chr2:29497995 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.2816-7T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000234630]|not provided [RCV003128608] |
Chr2:29227679 [GRCh38]
Chr2:29450545 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1234C>T (p.Arg412Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002257555]|Neuroblastoma, susceptibility to, 3 [RCV000226969]|not specified [RCV000523293] |
Chr2:29383780 [GRCh38]
Chr2:29606646 [GRCh37]
Chr2:2p23.2 |
benign|likely benign|uncertain significance |
| NM_004304.5(ALK):c.2633-6C>T |
single nucleotide variant |
ALK-related condition [RCV003897549]|Neuroblastoma, susceptibility to, 3 [RCV000227056] |
Chr2:29229072 [GRCh38]
Chr2:29451938 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.310C>T (p.Pro104Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002257559]|Neuroblastoma, susceptibility to, 3 [RCV000229111]|not provided [RCV002307461] |
Chr2:29920350 [GRCh38]
Chr2:30143216 [GRCh37]
Chr2:2p23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004304.5(ALK):c.258G>C (p.Glu86Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000229231] |
Chr2:29920402 [GRCh38]
Chr2:30143268 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3599C>T (p.Ala1200Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000573898]|Neuroblastoma, susceptibility to, 3 [RCV000229337]|not provided [RCV002284382] |
Chr2:29220752 [GRCh38]
Chr2:29443618 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4203T>C (p.Tyr1401=) |
single nucleotide variant |
ALK-related condition [RCV003919961]|Hereditary cancer-predisposing syndrome [RCV000571378]|Neuroblastoma, susceptibility to, 3 [RCV000227347]|not specified [RCV000604728] |
Chr2:29193884 [GRCh38]
Chr2:29416750 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.2304T>C (p.Asp768=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002448745]|Neuroblastoma, susceptibility to, 3 [RCV000549077] |
Chr2:29239731 [GRCh38]
Chr2:29462597 [GRCh37]
Chr2:2p23.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_004304.5(ALK):c.207G>A (p.Arg69=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000547175] |
Chr2:29920453 [GRCh38]
Chr2:30143319 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3969T>G (p.Phe1323Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021547]|Neuroblastoma, susceptibility to, 3 [RCV000546762] |
Chr2:29197646 [GRCh38]
Chr2:29420512 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1565G>T (p.Ser522Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002404505]|Neuroblastoma, susceptibility to, 3 [RCV000546886] |
Chr2:29318386 [GRCh38]
Chr2:29541252 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3453G>A (p.Thr1151=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000564437]|Neuroblastoma, susceptibility to, 3 [RCV000875970]|not provided [RCV003409837] |
Chr2:29222406 [GRCh38]
Chr2:29445272 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.32C>T (p.Pro11Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002257647]|Neuroblastoma, susceptibility to, 3 [RCV000647453]|not provided [RCV000997105] |
Chr2:29920628 [GRCh38]
Chr2:30143494 [GRCh37]
Chr2:2p23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004304.5(ALK):c.3375C>A (p.Gly1125=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575258]|Neuroblastoma, susceptibility to, 3 [RCV000605605]|Squamous cell lung carcinoma [RCV001250941]|not provided [RCV000588253]|not specified [RCV000431279] |
Chr2:29222592 [GRCh38]
Chr2:29445458 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.4596C>T (p.Asn1532=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575366]|Neuroblastoma, susceptibility to, 3 [RCV001080667]|not provided [RCV000590798]|not specified [RCV000612129] |
Chr2:29193491 [GRCh38]
Chr2:29416357 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.2443G>T (p.Ala815Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000530364] |
Chr2:29233609 [GRCh38]
Chr2:29456475 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.-156G>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000284276]|not provided [RCV001547462] |
Chr2:29920815 [GRCh38]
Chr2:30143681 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.*45G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000274478] |
Chr2:29193179 [GRCh38]
Chr2:29416045 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.4338C>T (p.Thr1446=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569897]|Neuroblastoma, susceptibility to, 3 [RCV000390900]|Squamous cell lung carcinoma [RCV001250940]|not provided [RCV000588694]|not specified [RCV000244172] |
Chr2:29193749 [GRCh38]
Chr2:29416615 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.702T>A (p.Pro234=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000571090]|Neuroblastoma, susceptibility to, 3 [RCV000611999]|not provided [RCV000588673]|not specified [RCV000249360] |
Chr2:29717663 [GRCh38]
Chr2:29940529 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.3036G>A (p.Thr1012=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000566995]|Neuroblastoma, susceptibility to, 3 [RCV000999759]|not provided [RCV000587860]|not specified [RCV000242049] |
Chr2:29226953 [GRCh38]
Chr2:29449819 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.2535T>C (p.Gly845=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562370]|Neuroblastoma, susceptibility to, 3 [RCV000599942]|not provided [RCV000588051]|not specified [RCV000247134] |
Chr2:29232401 [GRCh38]
Chr2:29455267 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.1500A>G (p.Gln500=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000564941]|Neuroblastoma, susceptibility to, 3 [RCV000604893]|not provided [RCV000586007]|not specified [RCV000244976] |
Chr2:29320797 [GRCh38]
Chr2:29543663 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.171C>T (p.Asp57=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003165694]|Neuroblastoma, susceptibility to, 3 [RCV000549983]|not specified [RCV000249736] |
Chr2:29920489 [GRCh38]
Chr2:30143355 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4662A>T (p.Ser1554=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002341399]|Neuroblastoma, susceptibility to, 3 [RCV000527132] |
Chr2:29193425 [GRCh38]
Chr2:29416291 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NC_000002.11:g.(?_30142853)_(30143531_?)dup |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV000528758] |
Chr2:29919987..29920665 [GRCh38]
Chr2:30142853..30143531 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4165-6C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000366824]|Squamous cell lung carcinoma [RCV001250945]|not provided [RCV000586724]|not specified [RCV000252384] |
Chr2:29193928 [GRCh38]
Chr2:29416794 [GRCh37]
Chr2:2p23.2 |
benign|uncertain significance |
| NM_004304.5(ALK):c.286G>A (p.Ala96Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000551975] |
Chr2:29920374 [GRCh38]
Chr2:30143240 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3359+6C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000612723]|not provided [RCV000586862]|not specified [RCV000247642] |
Chr2:29223336 [GRCh38]
Chr2:29446202 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.3610C>G (p.Leu1204Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565652] |
Chr2:29220741 [GRCh38]
Chr2:29443607 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.27C>G (p.Leu9=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562030]|Neuroblastoma, susceptibility to, 3 [RCV000601680]|not provided [RCV000586439]|not specified [RCV000250274] |
Chr2:29920633 [GRCh38]
Chr2:30143499 [GRCh37]
Chr2:2p23.1 |
benign |
| NM_004304.5(ALK):c.812C>G (p.Pro271Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000551516] |
Chr2:29694990 [GRCh38]
Chr2:29917856 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.507T>C (p.Asn169=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000275905] |
Chr2:29920153 [GRCh38]
Chr2:30143019 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.405C>G (p.Leu135=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002324015]|Neuroblastoma, susceptibility to, 3 [RCV000548136] |
Chr2:29920255 [GRCh38]
Chr2:30143121 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.2781G>A (p.Gly927=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000527565] |
Chr2:29228918 [GRCh38]
Chr2:29451784 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2488A>T (p.Met830Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000469900] |
Chr2:29232448 [GRCh38]
Chr2:29455314 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2175C>T (p.Ile725=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562941]|Neuroblastoma, susceptibility to, 3 [RCV000470127]|not specified [RCV000441780] |
Chr2:29251134 [GRCh38]
Chr2:29474000 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.1464C>T (p.Gly488=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000567332]|Neuroblastoma, susceptibility to, 3 [RCV001084370]|not provided [RCV000588206]|not specified [RCV000253215] |
Chr2:29320833 [GRCh38]
Chr2:29543699 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.3481_3482delinsAC (p.Glu1161Thr) |
indel |
Hereditary cancer-predisposing syndrome [RCV001020403]|Neuroblastoma, susceptibility to, 3 [RCV000552569] |
Chr2:29222377..29222378 [GRCh38]
Chr2:29445243..29445244 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.*61_*64dup |
duplication |
Neuroblastoma Susceptibility [RCV000277801]|not provided [RCV001643030] |
Chr2:29193159..29193160 [GRCh38]
Chr2:29416025..29416026 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.-313C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000313761] |
Chr2:29920972 [GRCh38]
Chr2:30143838 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.*63A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000333046]|not provided [RCV001545643] |
Chr2:29193161 [GRCh38]
Chr2:29416027 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.2109C>T (p.Asn703=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002418199]|Neuroblastoma Susceptibility [RCV000333978]|Neuroblastoma, susceptibility to, 3 [RCV000557598] |
Chr2:29251200 [GRCh38]
Chr2:29474066 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.1550A>G (p.His517Arg) |
single nucleotide variant |
Familial isolated pituitary adenoma [RCV001526802]|Hereditary cancer-predisposing syndrome [RCV002402059]|Neuroblastoma, susceptibility to, 3 [RCV000529454]|not provided [RCV003148707] |
Chr2:29318401 [GRCh38]
Chr2:29541267 [GRCh37]
Chr2:2p23.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004304.5(ALK):c.3633C>A (p.Thr1211=) |
single nucleotide variant |
ALK-related condition [RCV003950159]|Hereditary cancer-predisposing syndrome [RCV000571332]|Neuroblastoma, susceptibility to, 3 [RCV000473322]|not provided [RCV003422312] |
Chr2:29220718 [GRCh38]
Chr2:29443584 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.-5G>A |
single nucleotide variant |
ALK-related condition [RCV003972421]|Hereditary cancer-predisposing syndrome [RCV000567652]|Neuroblastoma, susceptibility to, 3 [RCV000378658]|not provided [RCV000587242] |
Chr2:29920664 [GRCh38]
Chr2:30143530 [GRCh37]
Chr2:2p23.1 |
benign|likely benign |
| NM_004304.5(ALK):c.3408C>T (p.Ser1136=) |
single nucleotide variant |
ALK-related condition [RCV003922451]|Hereditary cancer-predisposing syndrome [RCV000563653]|Neuroblastoma, susceptibility to, 3 [RCV001082897]|not provided [RCV000589663]|not specified [RCV000438016] |
Chr2:29222559 [GRCh38]
Chr2:29445425 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.-273G>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000401962]|not provided [RCV001574860] |
Chr2:29920932 [GRCh38]
Chr2:30143798 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.2430C>T (p.Ser810=) |
single nucleotide variant |
ALK-related condition [RCV003950160]|Hereditary cancer-predisposing syndrome [RCV002256212]|Neuroblastoma, susceptibility to, 3 [RCV000459188]|not provided [RCV002222490] |
Chr2:29233622 [GRCh38]
Chr2:29456488 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.*298C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000302790] |
Chr2:29192926 [GRCh38]
Chr2:29415792 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.3839C>T (p.Ala1280Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569836]|Neuroblastoma Susceptibility [RCV000318323]|Neuroblastoma, susceptibility to, 3 [RCV000540430]|not provided [RCV003441844] |
Chr2:29207270 [GRCh38]
Chr2:29430136 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.2210C>T (p.Ser737Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000559061] |
Chr2:29239825 [GRCh38]
Chr2:29462691 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.3173-11C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002257646]|Neuroblastoma Susceptibility [RCV000289200]|Neuroblastoma, susceptibility to, 3 [RCV001000138]|not specified [RCV000418057] |
Chr2:29223539 [GRCh38]
Chr2:29446405 [GRCh37]
Chr2:2p23.2 |
benign|likely benign|uncertain significance |
| NM_004304.5(ALK):c.*185C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000403669] |
Chr2:29193039 [GRCh38]
Chr2:29415905 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4433T>C (p.Met1478Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002255369]|Neuroblastoma, susceptibility to, 3 [RCV000469389]|not provided [RCV002291619] |
Chr2:29193654 [GRCh38]
Chr2:29416520 [GRCh37]
Chr2:2p23.2 |
benign|likely benign|uncertain significance |
| NM_004304.5(ALK):c.3336G>A (p.Pro1112=) |
single nucleotide variant |
ALK-related condition [RCV003932330]|Hereditary cancer-predisposing syndrome [RCV000576029]|Neuroblastoma, susceptibility to, 3 [RCV000472752]|not specified [RCV000443765] |
Chr2:29223365 [GRCh38]
Chr2:29446231 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.2603T>A (p.Leu868Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000689003] |
Chr2:29232333 [GRCh38]
Chr2:29455199 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.930G>T (p.Glu310Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002255145]|Neuroblastoma, susceptibility to, 3 [RCV000551970] |
Chr2:29694872 [GRCh38]
Chr2:29917738 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.597C>T (p.Gly199=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002256213]|Neuroblastoma, susceptibility to, 3 [RCV000459699]|not provided [RCV003409529] |
Chr2:29920063 [GRCh38]
Chr2:30142929 [GRCh37]
Chr2:2p23.1 |
benign|likely benign|uncertain significance |
| NM_004304.5(ALK):c.384G>A (p.Lys128=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003298393]|Neuroblastoma, susceptibility to, 3 [RCV000385318] |
Chr2:29920276 [GRCh38]
Chr2:30143142 [GRCh37]
Chr2:2p23.1 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.4375G>T (p.Ala1459Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002256210]|Neuroblastoma, susceptibility to, 3 [RCV000555867] |
Chr2:29193712 [GRCh38]
Chr2:29416578 [GRCh37]
Chr2:2p23.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004304.5(ALK):c.*111C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000308376]|not provided [RCV001653623] |
Chr2:29193113 [GRCh38]
Chr2:29415979 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.3085C>G (p.Pro1029Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002256211]|Neuroblastoma, susceptibility to, 3 [RCV000344220] |
Chr2:29225548 [GRCh38]
Chr2:29448414 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.-292G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000345284] |
Chr2:29920951 [GRCh38]
Chr2:30143817 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3057C>A (p.Val1019=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018354]|Neuroblastoma, susceptibility to, 3 [RCV001001870]|not provided [RCV001706548]|not specified [RCV000607579] |
Chr2:29226932 [GRCh38]
Chr2:29449798 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.*53G>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000369077]|not provided [RCV001530773] |
Chr2:29193171 [GRCh38]
Chr2:29416037 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.-415T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000392419]|not provided [RCV002263610] |
Chr2:29921074 [GRCh38]
Chr2:30143940 [GRCh37]
Chr2:2p23.1 |
benign|uncertain significance |
| NM_004304.5(ALK):c.1626G>C (p.Pro542=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012473]|Neuroblastoma, susceptibility to, 3 [RCV000463191]|not specified [RCV001821013] |
Chr2:29318325 [GRCh38]
Chr2:29541191 [GRCh37]
Chr2:2p23.2 |
benign|likely benign|uncertain significance |
| NM_004304.5(ALK):c.-403G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000370719] |
Chr2:29921062 [GRCh38]
Chr2:30143928 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.386G>T (p.Gly129Val) |
single nucleotide variant |
ALK-related condition [RCV003401357]|Neuroblastoma, susceptibility to, 3 [RCV000647443] |
Chr2:29920274 [GRCh38]
Chr2:30143140 [GRCh37]
Chr2:2p23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_004304.5(ALK):c.72G>A (p.Gly24=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002379228]|Neuroblastoma, susceptibility to, 3 [RCV000548799] |
Chr2:29920588 [GRCh38]
Chr2:30143454 [GRCh37]
Chr2:2p23.1 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.1152T>C (p.His384=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003159882]|Neuroblastoma, susceptibility to, 3 [RCV000554368] |
Chr2:29531917 [GRCh38]
Chr2:29754783 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1074T>C (p.Ser358=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003159881]|Neuroblastoma, susceptibility to, 3 [RCV000553656] |
Chr2:29531995 [GRCh38]
Chr2:29754861 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3769T>C (p.Leu1257=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002367902]|Neuroblastoma, susceptibility to, 3 [RCV000548905] |
Chr2:29209853 [GRCh38]
Chr2:29432719 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1650C>G (p.Leu550=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002404508]|Neuroblastoma, susceptibility to, 3 [RCV000549576] |
Chr2:29297055 [GRCh38]
Chr2:29519921 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4344C>T (p.Ser1448=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002328860]|Neuroblastoma, susceptibility to, 3 [RCV000543309] |
Chr2:29193743 [GRCh38]
Chr2:29416609 [GRCh37]
Chr2:2p23.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004304.5(ALK):c.*62_*65dup |
duplication |
Neuroblastoma Susceptibility [RCV000363012] |
Chr2:29193158..29193159 [GRCh38]
Chr2:29416024..29416025 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.-826C>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000315969] |
Chr2:29921485 [GRCh38]
Chr2:30144351 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1414+1G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000527922] |
Chr2:29328349 [GRCh38]
Chr2:29551215 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3229G>A (p.Glu1077Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000550589] |
Chr2:29223472 [GRCh38]
Chr2:29446338 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4390C>G (p.Arg1464Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002330928]|Neuroblastoma, susceptibility to, 3 [RCV000532056] |
Chr2:29193697 [GRCh38]
Chr2:29416563 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.655A>G (p.Ile219Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000706113]|not provided [RCV003156239] |
Chr2:29920005 [GRCh38]
Chr2:30142871 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.213A>G (p.Leu71=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003159884]|Neuroblastoma, susceptibility to, 3 [RCV000550956] |
Chr2:29920447 [GRCh38]
Chr2:30143313 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1249G>A (p.Val417Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000706940] |
Chr2:29383765 [GRCh38]
Chr2:29606631 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2901C>A (p.Thr967=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002436199]|Neuroblastoma, susceptibility to, 3 [RCV000407364]|not provided [RCV003441845] |
Chr2:29227587 [GRCh38]
Chr2:29450453 [GRCh37]
Chr2:2p23.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004304.5(ALK):c.*415G>A |
single nucleotide variant |
Neuroblastoma Susceptibility [RCV000407808] |
Chr2:29192809 [GRCh38]
Chr2:29415675 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.510C>T (p.Leu170=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003352842]|Neuroblastoma, susceptibility to, 3 [RCV000370379] |
Chr2:29920150 [GRCh38]
Chr2:30143016 [GRCh37]
Chr2:2p23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004304.5(ALK):c.1817+9T>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000552694] |
Chr2:29296879 [GRCh38]
Chr2:29519745 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.-161T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000339419] |
Chr2:29920820 [GRCh38]
Chr2:30143686 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.-624C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000355619] |
Chr2:29921283 [GRCh38]
Chr2:30144149 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.-312G>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000392409] |
Chr2:29920971 [GRCh38]
Chr2:30143837 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4648C>G (p.Leu1550Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002338934]|Neuroblastoma, susceptibility to, 3 [RCV000374369] |
Chr2:29193439 [GRCh38]
Chr2:29416305 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1578C>T (p.Val526=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012266]|Neuroblastoma, susceptibility to, 3 [RCV000531052] |
Chr2:29318373 [GRCh38]
Chr2:29541239 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4146G>A (p.Arg1382=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002331077]|Neuroblastoma, susceptibility to, 3 [RCV002064294]|not specified [RCV000605467] |
Chr2:29196788 [GRCh38]
Chr2:29419654 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.-566G>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000312443] |
Chr2:29921225 [GRCh38]
Chr2:30144091 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.*189T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000357630] |
Chr2:29193035 [GRCh38]
Chr2:29415901 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.-276G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000290281] |
Chr2:29920935 [GRCh38]
Chr2:30143801 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3512T>C (p.Ile1171Thr) |
single nucleotide variant |
Neuroblastoma [RCV000656371] |
Chr2:29222347 [GRCh38]
Chr2:29445213 [GRCh37]
Chr2:2p23.2 |
pathogenic |
| NM_004304.5(ALK):c.4210C>G (p.Leu1404Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003243189]|Neuroblastoma, susceptibility to, 3 [RCV000553113]|Ovarian cancer [RCV003153719] |
Chr2:29193877 [GRCh38]
Chr2:29416743 [GRCh37]
Chr2:2p23.2 |
benign|likely benign|uncertain significance |
| NM_004304.5(ALK):c.1547A>G (p.Asp516Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002404504]|Neuroblastoma, susceptibility to, 3 [RCV000553296] |
Chr2:29318404 [GRCh38]
Chr2:29541270 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.3745G>T (p.Asp1249Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565759]|Neuroblastoma, susceptibility to, 3 [RCV003465255] |
Chr2:29209877 [GRCh38]
Chr2:29432743 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.288C>A (p.Ala96=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000527979] |
Chr2:29920372 [GRCh38]
Chr2:30143238 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1283-5T>C |
single nucleotide variant |
Familial isolated pituitary adenoma [RCV001775059]|Hereditary cancer-predisposing syndrome [RCV002257821]|Neuroblastoma, susceptibility to, 3 [RCV001088281]|not provided [RCV000731880] |
Chr2:29328486 [GRCh38]
Chr2:29551352 [GRCh37]
Chr2:2p23.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004304.5(ALK):c.2548G>A (p.Gly850Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002431669]|Neuroblastoma, susceptibility to, 3 [RCV000531572]|not provided [RCV003441936] |
Chr2:29232388 [GRCh38]
Chr2:29455254 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 |
copy number gain |
not provided [RCV000752802] |
Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_004304.5(ALK):c.2653G>A (p.Asp885Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002424875]|Neuroblastoma, susceptibility to, 3 [RCV000806369] |
Chr2:29229046 [GRCh38]
Chr2:29451912 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3855G>A (p.Lys1285=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002358554]|Neuroblastoma, susceptibility to, 3 [RCV001413443] |
Chr2:29207254 [GRCh38]
Chr2:29430120 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1108G>A (p.Glu370Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000555000] |
Chr2:29531961 [GRCh38]
Chr2:29754827 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2817C>T (p.Gly939=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002258964]|Neuroblastoma, susceptibility to, 3 [RCV000529060] |
Chr2:29227671 [GRCh38]
Chr2:29450537 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3928A>G (p.Thr1310Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000532825] |
Chr2:29207181 [GRCh38]
Chr2:29430047 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.383A>G (p.Lys128Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002367904]|Neuroblastoma, susceptibility to, 3 [RCV000555312] |
Chr2:29920277 [GRCh38]
Chr2:30143143 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3120G>A (p.Val1040=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001407422]|not specified [RCV000589844] |
Chr2:29225513 [GRCh38]
Chr2:29448379 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.-3G>C |
single nucleotide variant |
ALK-related condition [RCV003900274]|Hereditary cancer-predisposing syndrome [RCV000567297] |
Chr2:29920662 [GRCh38]
Chr2:30143528 [GRCh37]
Chr2:2p23.1 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.940G>A (p.Glu314Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002377126]|Neuroblastoma, susceptibility to, 3 [RCV000532666] |
Chr2:29694862 [GRCh38]
Chr2:29917728 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.233C>G (p.Ser78Trp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000555107] |
Chr2:29920427 [GRCh38]
Chr2:30143293 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1528C>T (p.Arg510Trp) |
single nucleotide variant |
ALK-related condition [RCV003900208]|Neuroblastoma, susceptibility to, 3 [RCV000532921] |
Chr2:29320769 [GRCh38]
Chr2:29543635 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.485C>T (p.Ala162Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000806332] |
Chr2:29920175 [GRCh38]
Chr2:30143041 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.180G>A (p.Val60=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001506637] |
Chr2:29920480 [GRCh38]
Chr2:30143346 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4445A>C (p.Gln1482Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002330929]|Neuroblastoma, susceptibility to, 3 [RCV000557198] |
Chr2:29193642 [GRCh38]
Chr2:29416508 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.298A>G (p.Arg100Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002438456]|Neuroblastoma, susceptibility to, 3 [RCV000553207]|not provided [RCV003156256] |
Chr2:29920362 [GRCh38]
Chr2:30143228 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.761C>G (p.Pro254Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000537508] |
Chr2:29717604 [GRCh38]
Chr2:29940470 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.27_28delinsGT (p.Leu9_Leu10=) |
indel |
Neuroblastoma, susceptibility to, 3 [RCV000537551] |
Chr2:29920632..29920633 [GRCh38]
Chr2:30143498..30143499 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.145C>T (p.Leu49=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002395430]|Neuroblastoma, susceptibility to, 3 [RCV000539581] |
Chr2:29920515 [GRCh38]
Chr2:30143381 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.2834_2837del (p.Asn945fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV000541510] |
Chr2:29227651..29227654 [GRCh38]
Chr2:29450517..29450520 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1184G>A (p.Arg395His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002258962]|Neuroblastoma, susceptibility to, 3 [RCV000560261]|not provided [RCV003325492] |
Chr2:29383830 [GRCh38]
Chr2:29606696 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.393C>T (p.Ser131=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002377124]|Neuroblastoma, susceptibility to, 3 [RCV000557973] |
Chr2:29920267 [GRCh38]
Chr2:30143133 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1713C>G (p.Asn571Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002404510]|Neuroblastoma, susceptibility to, 3 [RCV000541762] |
Chr2:29296992 [GRCh38]
Chr2:29519858 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2703C>T (p.Thr901=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000558161] |
Chr2:29228996 [GRCh38]
Chr2:29451862 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2784C>G (p.Cys928Trp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000535745] |
Chr2:29228915 [GRCh38]
Chr2:29451781 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3133G>C (p.Val1045Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000560602] |
Chr2:29225500 [GRCh38]
Chr2:29448366 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1622C>A (p.Ala541Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000560743] |
Chr2:29318329 [GRCh38]
Chr2:29541195 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1189G>A (p.Asp397Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000536445] |
Chr2:29383825 [GRCh38]
Chr2:29606691 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3731A>G (p.His1244Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000547515] |
Chr2:29213996 [GRCh38]
Chr2:29436862 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3828C>T (p.Asp1276=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000556210] |
Chr2:29209794 [GRCh38]
Chr2:29432660 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2439G>A (p.Glu813=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000556282] |
Chr2:29233613 [GRCh38]
Chr2:29456479 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.327C>T (p.Ser109=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002448748]|Neuroblastoma, susceptibility to, 3 [RCV000556451] |
Chr2:29920333 [GRCh38]
Chr2:30143199 [GRCh37]
Chr2:2p23.1 |
likely benign |
| GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3 |
copy number gain |
See cases [RCV000454271] |
Chr2:27861707..60790985 [GRCh37]
Chr2:2p23.3-16.1 |
pathogenic |
| GRCh37/hg19 2p23.2-21(chr2:28069882-43543420)x3 |
copy number gain |
See cases [RCV000447397] |
Chr2:28069882..43543420 [GRCh37]
Chr2:2p23.2-21 |
pathogenic |
| NM_004304.5(ALK):c.3455T>G (p.Leu1152Arg) |
single nucleotide variant |
Lung adenocarcinoma [RCV000437564]|Non-small cell lung carcinoma [RCV000420784] |
Chr2:29222404 [GRCh38]
Chr2:29445270 [GRCh37]
Chr2:2p23.2 |
likely pathogenic|not provided |
| NM_004304.5(ALK):c.3735C>G (p.Phe1245Leu) |
single nucleotide variant |
Neuroblastoma [RCV000434421] |
Chr2:29213992 [GRCh38]
Chr2:29436858 [GRCh37]
Chr2:2p23.2 |
pathogenic |
| NM_004304.5(ALK):c.351G>A (p.Pro117=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002456190]|Neuroblastoma, susceptibility to, 3 [RCV000553759] |
Chr2:29920309 [GRCh38]
Chr2:30143175 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3586C>A (p.Leu1196Met) |
single nucleotide variant |
Lung adenocarcinoma [RCV000424376]|Lung cancer [RCV002282133]|Non-small cell lung carcinoma [RCV000435601] |
Chr2:29220765 [GRCh38]
Chr2:29443631 [GRCh37]
Chr2:2p23.2 |
likely pathogenic|not provided |
| NM_004304.5(ALK):c.3512T>A (p.Ile1171Asn) |
single nucleotide variant |
Neuroblastoma [RCV000428427] |
Chr2:29222347 [GRCh38]
Chr2:29445213 [GRCh37]
Chr2:2p23.2 |
pathogenic |
| NM_004304.5(ALK):c.3359+7G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000525833]|not specified [RCV000428461] |
Chr2:29223335 [GRCh38]
Chr2:29446201 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3521T>G (p.Phe1174Cys) |
single nucleotide variant |
ALK-related condition [RCV003401411]|Neuroblastoma [RCV000425764] |
Chr2:29220830 [GRCh38]
Chr2:29443696 [GRCh37]
Chr2:2p23.2 |
pathogenic|likely pathogenic |
| NM_004304.5(ALK):c.3733T>C (p.Phe1245Leu) |
single nucleotide variant |
Neuroblastoma [RCV000432633] |
Chr2:29213994 [GRCh38]
Chr2:29436860 [GRCh37]
Chr2:2p23.2 |
likely pathogenic |
| NM_004304.5(ALK):c.3604G>A (p.Gly1202Arg) |
single nucleotide variant |
Lung adenocarcinoma [RCV000432713]|Lung cancer [RCV002282132]|Non-small cell lung carcinoma [RCV000443402] |
Chr2:29220747 [GRCh38]
Chr2:29443613 [GRCh37]
Chr2:2p23.2 |
likely pathogenic|not provided |
| NM_004304.5(ALK):c.3617C>A (p.Ser1206Tyr) |
single nucleotide variant |
Lung adenocarcinoma [RCV000422435]|Non-small cell lung carcinoma [RCV000444462] |
Chr2:29220734 [GRCh38]
Chr2:29443600 [GRCh37]
Chr2:2p23.2 |
likely pathogenic|not provided |
| NM_004304.5(ALK):c.3497T>G (p.Met1166Arg) |
single nucleotide variant |
Neuroblastoma [RCV000422585] |
Chr2:29222362 [GRCh38]
Chr2:29445228 [GRCh37]
Chr2:2p23.2 |
likely pathogenic |
| NM_004304.5(ALK):c.3824G>T (p.Arg1275Leu) |
single nucleotide variant |
Breast neoplasm [RCV000418856]|Neuroblastoma [RCV000436534] |
Chr2:29209798 [GRCh38]
Chr2:29432664 [GRCh37]
Chr2:2p23.2 |
likely pathogenic |
| NM_004304.5(ALK):c.3375C>T (p.Gly1125=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002451055]|Neuroblastoma, susceptibility to, 3 [RCV001201926]|not specified [RCV000436716] |
Chr2:29222592 [GRCh38]
Chr2:29445458 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.3467G>A (p.Cys1156Tyr) |
single nucleotide variant |
Non-small cell lung carcinoma [RCV000417711] |
Chr2:29222392 [GRCh38]
Chr2:29445258 [GRCh37]
Chr2:2p23.2 |
not provided |
| NM_004304.5(ALK):c.3673G>A (p.Asp1225Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002450958]|Rhabdomyosarcoma [RCV000433441] |
Chr2:29214054 [GRCh38]
Chr2:29436920 [GRCh37]
Chr2:2p23.2 |
pathogenic|uncertain significance |
| NM_004304.5(ALK):c.3806G>C (p.Gly1269Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003298428]|Lung adenocarcinoma [RCV000423107]|Non-small cell lung carcinoma [RCV000432491] |
Chr2:29209816 [GRCh38]
Chr2:29432682 [GRCh37]
Chr2:2p23.2 |
likely pathogenic|uncertain significance|not provided |
| NM_004304.5(ALK):c.846C>T (p.Asp282=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002446752]|Neuroblastoma, susceptibility to, 3 [RCV000527675]|not provided [RCV001696783] |
Chr2:29694956 [GRCh38]
Chr2:29917822 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.1190A>T (p.Asp397Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000462810] |
Chr2:29383824 [GRCh38]
Chr2:29606690 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4303G>A (p.Glu1435Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000470259] |
Chr2:29193784 [GRCh38]
Chr2:29416650 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4755C>G (p.Gly1585=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003168733]|Neuroblastoma, susceptibility to, 3 [RCV000473954] |
Chr2:29193332 [GRCh38]
Chr2:29416198 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.4812C>T (p.Tyr1604=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002341062]|Neuroblastoma, susceptibility to, 3 [RCV000459310]|not specified [RCV000608061] |
Chr2:29193275 [GRCh38]
Chr2:29416141 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3133G>A (p.Val1045Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000462948]|not provided [RCV002289587] |
Chr2:29225500 [GRCh38]
Chr2:29448366 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2384T>C (p.Ile795Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002451068]|Neuroblastoma, susceptibility to, 3 [RCV000466718] |
Chr2:29233668 [GRCh38]
Chr2:29456534 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3938+8A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001480865] |
Chr2:29207163 [GRCh38]
Chr2:29430029 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3692G>A (p.Arg1231Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569692]|Neuroblastoma, susceptibility to, 3 [RCV000474175]|not provided [RCV002305487] |
Chr2:29214035 [GRCh38]
Chr2:29436901 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.920_922dup (p.Pro307_Gly308insAla) |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV000474281]|not specified [RCV003151058] |
Chr2:29694879..29694880 [GRCh38]
Chr2:29917745..29917746 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4812C>A (p.Tyr1604Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000474334] |
Chr2:29193275 [GRCh38]
Chr2:29416141 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3233A>G (p.Tyr1078Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002323676]|Neuroblastoma, susceptibility to, 3 [RCV000460284] |
Chr2:29223468 [GRCh38]
Chr2:29446334 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) |
copy number gain |
See cases [RCV000512056] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_004304.5(ALK):c.1999G>A (p.Gly667Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000459331] |
Chr2:29275141 [GRCh38]
Chr2:29498007 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4138T>G (p.Leu1380Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021932]|Neuroblastoma, susceptibility to, 3 [RCV000459371] |
Chr2:29196796 [GRCh38]
Chr2:29419662 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3742C>T (p.Arg1248Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021020]|Neuroblastoma, susceptibility to, 3 [RCV001086604]|not provided [RCV000657739] |
Chr2:29213985 [GRCh38]
Chr2:29436851 [GRCh37]
Chr2:2p23.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004304.5(ALK):c.3251G>A (p.Arg1084His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002323675]|Neuroblastoma, susceptibility to, 3 [RCV000466916] |
Chr2:29223450 [GRCh38]
Chr2:29446316 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2632+8G>A |
single nucleotide variant |
ALK-related condition [RCV003942509]|Neuroblastoma, susceptibility to, 3 [RCV000466970] |
Chr2:29232296 [GRCh38]
Chr2:29455162 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.1648C>T (p.Leu550Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002256282]|Neuroblastoma, susceptibility to, 3 [RCV000467087]|Ovarian cancer [RCV003153651] |
Chr2:29297057 [GRCh38]
Chr2:29519923 [GRCh37]
Chr2:2p23.2 |
likely pathogenic|likely benign |
| NM_004304.5(ALK):c.3939G>T (p.Trp1313Cys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000467117] |
Chr2:29197676 [GRCh38]
Chr2:29420542 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4480G>A (p.Gly1494Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000470670]|not provided [RCV003424023]|not specified [RCV000608346] |
Chr2:29193607 [GRCh38]
Chr2:29416473 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.454G>C (p.Glu152Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000470706] |
Chr2:29920206 [GRCh38]
Chr2:30143072 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.91T>G (p.Ser31Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002374741]|Neuroblastoma, susceptibility to, 3 [RCV000464595] |
Chr2:29920569 [GRCh38]
Chr2:30143435 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1208C>A (p.Ala403Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000459583] |
Chr2:29383806 [GRCh38]
Chr2:29606672 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2521G>A (p.Ala841Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002451067]|Neuroblastoma, susceptibility to, 3 [RCV000463494] |
Chr2:29232415 [GRCh38]
Chr2:29455281 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1116A>C (p.Ala372=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003343844]|Neuroblastoma, susceptibility to, 3 [RCV001495231] |
Chr2:29531953 [GRCh38]
Chr2:29754819 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4795C>T (p.Pro1599Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000470897]|not provided [RCV002298594] |
Chr2:29193292 [GRCh38]
Chr2:29416158 [GRCh37]
Chr2:2p23.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_004304.5(ALK):c.548G>A (p.Gly183Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003298465]|Neuroblastoma, susceptibility to, 3 [RCV000470928] |
Chr2:29920112 [GRCh38]
Chr2:30142978 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1306G>C (p.Ala436Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000474708] |
Chr2:29328458 [GRCh38]
Chr2:29551324 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3743G>A (p.Arg1248Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572636]|Neuroblastoma, susceptibility to, 3 [RCV000456194] |
Chr2:29213984 [GRCh38]
Chr2:29436850 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.926C>T (p.Ala309Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002374742]|Neuroblastoma, susceptibility to, 3 [RCV000456305]|not provided [RCV003159119] |
Chr2:29694876 [GRCh38]
Chr2:29917742 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2416C>T (p.Arg806Cys) |
single nucleotide variant |
ALK-related condition [RCV003409611]|Neuroblastoma, susceptibility to, 3 [RCV000459873] |
Chr2:29233636 [GRCh38]
Chr2:29456502 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4425C>T (p.His1475=) |
single nucleotide variant |
ALK-related condition [RCV003899940]|Hereditary cancer-predisposing syndrome [RCV002257728]|Neuroblastoma, susceptibility to, 3 [RCV000459909]|not provided [RCV003409640] |
Chr2:29193662 [GRCh38]
Chr2:29416528 [GRCh37]
Chr2:2p23.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_004304.5(ALK):c.1107C>T (p.Asn369=) |
single nucleotide variant |
ALK-related condition [RCV003899941]|Hereditary cancer-predisposing syndrome [RCV001009908]|Neuroblastoma, susceptibility to, 3 [RCV000463731]|not provided [RCV003884552] |
Chr2:29531962 [GRCh38]
Chr2:29754828 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3530A>C (p.Gln1177Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002451071]|Neuroblastoma, susceptibility to, 3 [RCV000467460]|not provided [RCV001770299] |
Chr2:29220821 [GRCh38]
Chr2:29443687 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4200A>C (p.Glu1400Asp) |
single nucleotide variant |
ALK-related condition [RCV003392267]|Hereditary cancer-predisposing syndrome [RCV001022040]|Neuroblastoma, susceptibility to, 3 [RCV000471219] |
Chr2:29193887 [GRCh38]
Chr2:29416753 [GRCh37]
Chr2:2p23.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_004304.5(ALK):c.1918G>A (p.Gly640Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002258899]|Neuroblastoma, susceptibility to, 3 [RCV000474932]|not provided [RCV003488597] |
Chr2:29275222 [GRCh38]
Chr2:29498088 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3646-3C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020792]|Neuroblastoma, susceptibility to, 3 [RCV000474981]|not provided [RCV003322769] |
Chr2:29214084 [GRCh38]
Chr2:29436950 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1154G>C (p.Gly385Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000456362] |
Chr2:29531915 [GRCh38]
Chr2:29754781 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.782G>A (p.Arg261Gln) |
single nucleotide variant |
ALK-related condition [RCV003401448]|Neuroblastoma, susceptibility to, 3 [RCV000460065]|not provided [RCV003225068]|not specified [RCV003151057] |
Chr2:29717583 [GRCh38]
Chr2:29940449 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4473G>A (p.Lys1491=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002256281]|Neuroblastoma, susceptibility to, 3 [RCV000460270]|not provided [RCV003409641] |
Chr2:29193614 [GRCh38]
Chr2:29416480 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.2041+5G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000463894] |
Chr2:29275094 [GRCh38]
Chr2:29497960 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2100G>A (p.Gln700=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002418436]|Neuroblastoma, susceptibility to, 3 [RCV000464027] |
Chr2:29251209 [GRCh38]
Chr2:29474075 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3115G>A (p.Val1039Met) |
single nucleotide variant |
Familial isolated pituitary adenoma [RCV000761097]|Neuroblastoma, susceptibility to, 3 [RCV000467803]|not provided [RCV002284391] |
Chr2:29225518 [GRCh38]
Chr2:29448384 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3337C>T (p.Arg1113Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002323677]|Neuroblastoma, susceptibility to, 3 [RCV000471575] |
Chr2:29223364 [GRCh38]
Chr2:29446230 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1652G>A (p.Arg551Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000460471] |
Chr2:29297053 [GRCh38]
Chr2:29519919 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3160G>A (p.Gly1054Ser) |
single nucleotide variant |
Familial isolated pituitary adenoma [RCV000761163]|Hereditary cancer-predisposing syndrome [RCV002256242]|Neuroblastoma, susceptibility to, 3 [RCV000464094]|not provided [RCV002285331] |
Chr2:29225473 [GRCh38]
Chr2:29448339 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2560G>A (p.Asp854Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002451070]|Neuroblastoma, susceptibility to, 3 [RCV000464123] |
Chr2:29232376 [GRCh38]
Chr2:29455242 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.3362G>A (p.Gly1121Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000571840]|Neuroblastoma, susceptibility to, 3 [RCV000467869]|not provided [RCV002473007] |
Chr2:29222605 [GRCh38]
Chr2:29445471 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.1415-3T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000471601] |
Chr2:29320885 [GRCh38]
Chr2:29543751 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2853T>C (p.Asp951=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002436474]|Neuroblastoma, susceptibility to, 3 [RCV000471635] |
Chr2:29227635 [GRCh38]
Chr2:29450501 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.573C>G (p.Pro191=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002349995]|Neuroblastoma, susceptibility to, 3 [RCV000475402] |
Chr2:29920087 [GRCh38]
Chr2:30142953 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.2204+4C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000475515] |
Chr2:29251101 [GRCh38]
Chr2:29473967 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.615C>G (p.Ser205=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001024960]|Neuroblastoma, susceptibility to, 3 [RCV000456861] |
Chr2:29920045 [GRCh38]
Chr2:30142911 [GRCh37]
Chr2:2p23.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_004304.5(ALK):c.206G>A (p.Arg69Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002257684]|Neuroblastoma, susceptibility to, 3 [RCV000456939]|not provided [RCV002291626] |
Chr2:29920454 [GRCh38]
Chr2:30143320 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1689C>T (p.Asn563=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002258917]|Neuroblastoma, susceptibility to, 3 [RCV000464520]|not provided [RCV003431021] |
Chr2:29297016 [GRCh38]
Chr2:29519882 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.1246G>A (p.Ala416Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000471810] |
Chr2:29383768 [GRCh38]
Chr2:29606634 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.142C>A (p.Arg48Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000471882] |
Chr2:29920518 [GRCh38]
Chr2:30143384 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4391G>A (p.Arg1464Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002329014]|Neuroblastoma, susceptibility to, 3 [RCV000471998] |
Chr2:29193696 [GRCh38]
Chr2:29416562 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.362G>T (p.Arg121Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000475632] |
Chr2:29920298 [GRCh38]
Chr2:30143164 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.691A>C (p.Thr231Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000475825] |
Chr2:29717674 [GRCh38]
Chr2:29940540 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4646G>T (p.Arg1549Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002329015]|Neuroblastoma, susceptibility to, 3 [RCV000462396]|not provided [RCV000482658] |
Chr2:29193441 [GRCh38]
Chr2:29416307 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.3388G>T (p.Val1130Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000457116] |
Chr2:29222579 [GRCh38]
Chr2:29445445 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.149A>G (p.Gln50Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000464657]|not provided [RCV001770298] |
Chr2:29920511 [GRCh38]
Chr2:30143377 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.775C>T (p.Arg259Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002256243]|Neuroblastoma, susceptibility to, 3 [RCV000468417]|not provided [RCV003226926] |
Chr2:29717590 [GRCh38]
Chr2:29940456 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.1563C>T (p.Leu521=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003298513]|Neuroblastoma, susceptibility to, 3 [RCV000472143] |
Chr2:29318388 [GRCh38]
Chr2:29541254 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2633-4G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002257730]|Neuroblastoma, susceptibility to, 3 [RCV000472245]|not specified [RCV000603981] |
Chr2:29229070 [GRCh38]
Chr2:29451936 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.4801G>A (p.Ala1601Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002339111]|Neuroblastoma, susceptibility to, 3 [RCV000475870] |
Chr2:29193286 [GRCh38]
Chr2:29416152 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.490G>A (p.Gly164Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002348259]|Neuroblastoma, susceptibility to, 3 [RCV000476008] |
Chr2:29920170 [GRCh38]
Chr2:30143036 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4845G>A (p.Met1615Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000457300] |
Chr2:29193242 [GRCh38]
Chr2:29416108 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1752C>T (p.Val584=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012962]|Neuroblastoma, susceptibility to, 3 [RCV000457391]|not specified [RCV000603644] |
Chr2:29296953 [GRCh38]
Chr2:29519819 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.108G>A (p.Pro36=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002446855]|Neuroblastoma, susceptibility to, 3 [RCV001416095] |
Chr2:29920552 [GRCh38]
Chr2:30143418 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.2016A>T (p.Arg672Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000457475] |
Chr2:29275124 [GRCh38]
Chr2:29497990 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3262A>G (p.Ile1088Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003298467]|Neuroblastoma, susceptibility to, 3 [RCV000461079] |
Chr2:29223439 [GRCh38]
Chr2:29446305 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2532T>C (p.Gly844=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002429568]|Neuroblastoma, susceptibility to, 3 [RCV000464850] |
Chr2:29232404 [GRCh38]
Chr2:29455270 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3664G>C (p.Ala1222Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020833]|Neuroblastoma, susceptibility to, 3 [RCV000468673] |
Chr2:29214063 [GRCh38]
Chr2:29436929 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1110G>A (p.Glu370=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000561458]|Neuroblastoma, susceptibility to, 3 [RCV000468743]|not provided [RCV003884553]|not specified [RCV001821311] |
Chr2:29531959 [GRCh38]
Chr2:29754825 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.4623C>T (p.Val1541=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002341061]|Neuroblastoma, susceptibility to, 3 [RCV000472282] |
Chr2:29193464 [GRCh38]
Chr2:29416330 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2284A>G (p.Ile762Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002446771]|Neuroblastoma, susceptibility to, 3 [RCV000476112] |
Chr2:29239751 [GRCh38]
Chr2:29462617 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.1983C>A (p.Asn661Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000476121] |
Chr2:29275157 [GRCh38]
Chr2:29498023 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.925G>A (p.Ala309Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000476286] |
Chr2:29694877 [GRCh38]
Chr2:29917743 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.700C>A (p.Pro234Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000457647] |
Chr2:29717665 [GRCh38]
Chr2:29940531 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4752C>T (p.Tyr1584=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002329089]|Neuroblastoma, susceptibility to, 3 [RCV000465134]|not provided [RCV003409642] |
Chr2:29193335 [GRCh38]
Chr2:29416201 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3052G>A (p.Gly1018Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000468821] |
Chr2:29226937 [GRCh38]
Chr2:29449803 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2012C>T (p.Pro671Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000476479] |
Chr2:29275128 [GRCh38]
Chr2:29497994 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2915-9T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002257729]|Neuroblastoma, susceptibility to, 3 [RCV000457734]|not specified [RCV000508380] |
Chr2:29227083 [GRCh38]
Chr2:29449949 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.892G>A (p.Ala298Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000457871] |
Chr2:29694910 [GRCh38]
Chr2:29917776 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2268C>T (p.Gly756=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002255403]|Neuroblastoma, susceptibility to, 3 [RCV000461523]|not provided [RCV001704564]|not specified [RCV003151067] |
Chr2:29239767 [GRCh38]
Chr2:29462633 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.503T>C (p.Phe168Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002339110]|Neuroblastoma, susceptibility to, 3 [RCV000461574] |
Chr2:29920157 [GRCh38]
Chr2:30143023 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2565G>A (p.Thr855=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002429567]|Neuroblastoma, susceptibility to, 3 [RCV000461605] |
Chr2:29232371 [GRCh38]
Chr2:29455237 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.82C>T (p.Arg28Cys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000461648] |
Chr2:29920578 [GRCh38]
Chr2:30143444 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2629G>A (p.Ala877Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000465261] |
Chr2:29232307 [GRCh38]
Chr2:29455173 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.872G>A (p.Arg291His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000465368]|Ovarian cancer [RCV003153577] |
Chr2:29694930 [GRCh38]
Chr2:29917796 [GRCh37]
Chr2:2p23.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004304.5(ALK):c.3572C>A (p.Pro1191His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002451069]|Neuroblastoma, susceptibility to, 3 [RCV000465456] |
Chr2:29220779 [GRCh38]
Chr2:29443645 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1581C>T (p.Pro527=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002402307]|Neuroblastoma, susceptibility to, 3 [RCV000469005] |
Chr2:29318370 [GRCh38]
Chr2:29541236 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1059G>A (p.Arg353=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001009761]|Neuroblastoma, susceptibility to, 3 [RCV000472773] |
Chr2:29532010 [GRCh38]
Chr2:29754876 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3102G>A (p.Ser1034=) |
single nucleotide variant |
ALK-related condition [RCV003942510]|Hereditary cancer-predisposing syndrome [RCV002256279]|Neuroblastoma, susceptibility to, 3 [RCV000476787]|not provided [RCV001591108] |
Chr2:29225531 [GRCh38]
Chr2:29448397 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.3081G>A (p.Pro1027=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000554570] |
Chr2:29225552 [GRCh38]
Chr2:29448418 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.3363T>A (p.Gly1121=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000566012]|Neuroblastoma, susceptibility to, 3 [RCV000986610] |
Chr2:29222604 [GRCh38]
Chr2:29445470 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.730A>T (p.Asn244Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003168732]|Neuroblastoma, susceptibility to, 3 [RCV000461860] |
Chr2:29717635 [GRCh38]
Chr2:29940501 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4585G>A (p.Asp1529Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002339112]|Neuroblastoma, susceptibility to, 3 [RCV000465709] |
Chr2:29193502 [GRCh38]
Chr2:29416368 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3115G>C (p.Val1039Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000469232]|not provided [RCV003329277] |
Chr2:29225518 [GRCh38]
Chr2:29448384 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4184C>T (p.Thr1395Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000469354] |
Chr2:29193903 [GRCh38]
Chr2:29416769 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1128C>T (p.Leu376=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002323762]|Neuroblastoma, susceptibility to, 3 [RCV000472925]|not provided [RCV002254926] |
Chr2:29531941 [GRCh38]
Chr2:29754807 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.3060C>T (p.Ser1020=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001503621] |
Chr2:29226929 [GRCh38]
Chr2:29449795 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2193C>T (p.Thr731=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002429566]|Neuroblastoma, susceptibility to, 3 [RCV000476989] |
Chr2:29251116 [GRCh38]
Chr2:29473982 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2094G>A (p.Gln698=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002418435]|Neuroblastoma, susceptibility to, 3 [RCV000477021] |
Chr2:29251215 [GRCh38]
Chr2:29474081 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.76G>A (p.Gly26Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000458240] |
Chr2:29920584 [GRCh38]
Chr2:30143450 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2554A>G (p.Lys852Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002258900]|Neuroblastoma, susceptibility to, 3 [RCV000462120]|not provided [RCV003126741] |
Chr2:29232382 [GRCh38]
Chr2:29455248 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2258G>A (p.Arg753Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000469555]|not provided [RCV003318576] |
Chr2:29239777 [GRCh38]
Chr2:29462643 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1277G>C (p.Ser426Thr) |
single nucleotide variant |
ALK-related condition [RCV003972768]|Hereditary cancer-predisposing syndrome [RCV002256280]|Neuroblastoma, susceptibility to, 3 [RCV000473185] |
Chr2:29383737 [GRCh38]
Chr2:29606603 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.1179C>T (p.Ile393=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000477081] |
Chr2:29383835 [GRCh38]
Chr2:29606701 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4836G>C (p.Lys1612Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001856865]|not provided [RCV000478470] |
Chr2:29193251 [GRCh38]
Chr2:29416117 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1753G>A (p.Ala585Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000818616]|not provided [RCV000478482] |
Chr2:29296952 [GRCh38]
Chr2:29519818 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1998C>T (p.Pro666=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002418434]|Neuroblastoma, susceptibility to, 3 [RCV000458408] |
Chr2:29275142 [GRCh38]
Chr2:29498008 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.885C>T (p.Ser295=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002374824]|Neuroblastoma, susceptibility to, 3 [RCV000458483] |
Chr2:29694917 [GRCh38]
Chr2:29917783 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1555C>T (p.Leu519=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000458541] |
Chr2:29318396 [GRCh38]
Chr2:29541262 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.605G>A (p.Gly202Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003298466]|Neuroblastoma, susceptibility to, 3 [RCV000458582] |
Chr2:29920055 [GRCh38]
Chr2:30142921 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2328G>A (p.Gly776=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002446854]|Neuroblastoma, susceptibility to, 3 [RCV001432685] |
Chr2:29239707 [GRCh38]
Chr2:29462573 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2622C>T (p.Ser874=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002429565]|Neuroblastoma, susceptibility to, 3 [RCV000477377] |
Chr2:29232314 [GRCh38]
Chr2:29455180 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.280G>C (p.Asp94His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000458720] |
Chr2:29920380 [GRCh38]
Chr2:30143246 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4703A>C (p.Glu1568Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000458834] |
Chr2:29193384 [GRCh38]
Chr2:29416250 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3929C>T (p.Thr1310Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002374743]|Neuroblastoma, susceptibility to, 3 [RCV000466294] |
Chr2:29207180 [GRCh38]
Chr2:29430046 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3645+7G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001400571] |
Chr2:29220699 [GRCh38]
Chr2:29443565 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1390G>A (p.Gly464Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002256244]|Neuroblastoma, susceptibility to, 3 [RCV000466440]|not provided [RCV003441857] |
Chr2:29328374 [GRCh38]
Chr2:29551240 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2229C>T (p.Gly743=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002429471]|Neuroblastoma, susceptibility to, 3 [RCV000470137]|not provided [RCV003424009] |
Chr2:29239806 [GRCh38]
Chr2:29462672 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.875G>A (p.Arg292His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002256241]|Neuroblastoma, susceptibility to, 3 [RCV000473638] |
Chr2:29694927 [GRCh38]
Chr2:29917793 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.2822A>G (p.Asn941Ser) |
single nucleotide variant |
ALK-related condition [RCV003392268]|Neuroblastoma, susceptibility to, 3 [RCV000473788]|not provided [RCV003227750] |
Chr2:29227666 [GRCh38]
Chr2:29450532 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.513C>T (p.Ser171=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002348258]|Neuroblastoma, susceptibility to, 3 [RCV000473865] |
Chr2:29920147 [GRCh38]
Chr2:30143013 [GRCh37]
Chr2:2p23.1 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.334G>C (p.Ala112Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000473883] |
Chr2:29920326 [GRCh38]
Chr2:30143192 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4238T>G (p.Val1413Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002330927]|Neuroblastoma, susceptibility to, 3 [RCV000554432]|not provided [RCV002469196] |
Chr2:29193849 [GRCh38]
Chr2:29416715 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| GRCh37/hg19 2p23.2(chr2:29317927-29706226)x1 |
copy number loss |
See cases [RCV000510605] |
Chr2:29317927..29706226 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| GRCh37/hg19 2p23.2-23.1(chr2:28306106-30052309)x3 |
copy number gain |
See cases [RCV000510617] |
Chr2:28306106..30052309 [GRCh37]
Chr2:2p23.2-23.1 |
uncertain significance |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 |
copy number gain |
See cases [RCV000511212] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_004304.5(ALK):c.364A>G (p.Thr122Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000698277] |
Chr2:29920296 [GRCh38]
Chr2:30143162 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.44C>A (p.Ser15Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002332472]|Neuroblastoma, susceptibility to, 3 [RCV000698820] |
Chr2:29920616 [GRCh38]
Chr2:30143482 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1794G>A (p.Leu598=) |
single nucleotide variant |
ALK-related condition [RCV003980000]|Hereditary cancer-predisposing syndrome [RCV002404511]|Neuroblastoma, susceptibility to, 3 [RCV000532046] |
Chr2:29296911 [GRCh38]
Chr2:29519777 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4359A>C (p.Ala1453=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002331225]|Neuroblastoma, susceptibility to, 3 [RCV000647497] |
Chr2:29193728 [GRCh38]
Chr2:29416594 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.318G>A (p.Pro106=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002325284]|Neuroblastoma, susceptibility to, 3 [RCV000647498] |
Chr2:29920342 [GRCh38]
Chr2:30143208 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3228T>C (p.Pro1076=) |
single nucleotide variant |
ALK-related condition [RCV003937949]|Hereditary cancer-predisposing syndrome [RCV002325285]|Neuroblastoma, susceptibility to, 3 [RCV000647499] |
Chr2:29223473 [GRCh38]
Chr2:29446339 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.396G>C (p.Val132=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002369722]|Neuroblastoma, susceptibility to, 3 [RCV000647502] |
Chr2:29920264 [GRCh38]
Chr2:30143130 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.930G>A (p.Glu310=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002369723]|Neuroblastoma, susceptibility to, 3 [RCV000647503] |
Chr2:29694872 [GRCh38]
Chr2:29917738 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1650C>A (p.Leu550=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003343974]|Neuroblastoma, susceptibility to, 3 [RCV001449235] |
Chr2:29297055 [GRCh38]
Chr2:29519921 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4419G>C (p.Gly1473=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002331226]|Neuroblastoma, susceptibility to, 3 [RCV000647509] |
Chr2:29193668 [GRCh38]
Chr2:29416534 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.174C>T (p.Phe58=) |
single nucleotide variant |
ALK-related condition [RCV003892467]|Hereditary cancer-predisposing syndrome [RCV002397273]|Neuroblastoma, susceptibility to, 3 [RCV000647510] |
Chr2:29920486 [GRCh38]
Chr2:30143352 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1546+7C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647520] |
Chr2:29320744 [GRCh38]
Chr2:29543610 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3939-9C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647519] |
Chr2:29197685 [GRCh38]
Chr2:29420551 [GRCh37]
Chr2:2p23.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_004304.5(ALK):c.3938+7C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647516] |
Chr2:29207164 [GRCh38]
Chr2:29430030 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.498C>T (p.Leu166=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002334170]|Neuroblastoma, susceptibility to, 3 [RCV000647514] |
Chr2:29920162 [GRCh38]
Chr2:30143028 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1710G>A (p.Glu570=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002397274]|Neuroblastoma, susceptibility to, 3 [RCV000647511] |
Chr2:29296995 [GRCh38]
Chr2:29519861 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1756G>A (p.Ala586Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000555720]|not provided [RCV003318593] |
Chr2:29296949 [GRCh38]
Chr2:29519815 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4238dup (p.Arg1414fs) |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV000541841] |
Chr2:29193848..29193849 [GRCh38]
Chr2:29416714..29416715 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3366G>A (p.Leu1122=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575047]|Neuroblastoma, susceptibility to, 3 [RCV000869370] |
Chr2:29222601 [GRCh38]
Chr2:29445467 [GRCh37]
Chr2:2p23.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_004304.5(ALK):c.893C>T (p.Ala298Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000533557] |
Chr2:29694909 [GRCh38]
Chr2:29917775 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.790C>G (p.Leu264Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003300781] |
Chr2:29695012 [GRCh38]
Chr2:29917878 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.990G>T (p.Lys330Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003300787] |
Chr2:29532079 [GRCh38]
Chr2:29754945 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4634T>C (p.Val1545Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000533823] |
Chr2:29193453 [GRCh38]
Chr2:29416319 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2816-9G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000960362]|not specified [RCV000607092] |
Chr2:29227681 [GRCh38]
Chr2:29450547 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.7G>A (p.Ala3Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002420488]|Neuroblastoma, susceptibility to, 3 [RCV000538902] |
Chr2:29920653 [GRCh38]
Chr2:30143519 [GRCh37]
Chr2:2p23.1 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.4079G>A (p.Arg1360Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575671]|Neuroblastoma, susceptibility to, 3 [RCV000702196] |
Chr2:29196855 [GRCh38]
Chr2:29419721 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.952+16C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000625236]|not specified [RCV000604160] |
Chr2:29694834 [GRCh38]
Chr2:29917700 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.3542G>A (p.Arg1181His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002456191]|Neuroblastoma, susceptibility to, 3 [RCV000547093] |
Chr2:29220809 [GRCh38]
Chr2:29443675 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3660C>G (p.Ser1220=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000564531]|Neuroblastoma, susceptibility to, 3 [RCV000867031] |
Chr2:29214067 [GRCh38]
Chr2:29436933 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3820G>A (p.Ala1274Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002367903]|Neuroblastoma, susceptibility to, 3 [RCV000539070] |
Chr2:29209802 [GRCh38]
Chr2:29432668 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3645G>A (p.Pro1215=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575880]|Neuroblastoma, susceptibility to, 3 [RCV000685406]|not provided [RCV003409847] |
Chr2:29220706 [GRCh38]
Chr2:29443572 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.2712T>A (p.His904Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000534250] |
Chr2:29228987 [GRCh38]
Chr2:29451853 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| t(2;2)(p23;p21)(hg19 chr2:g.42552694::ochr2:g.29446394) |
inversion |
Small cell lung carcinoma [RCV000576833] |
Chr2:29446394..42552694 [GRCh37]
Chr2:2p23.2-21 |
pathogenic |
| NM_004304.5(ALK):c.3691C>T (p.Arg1231Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020893]|Neuroblastoma, susceptibility to, 3 [RCV000535025]|not provided [RCV003332196] |
Chr2:29214036 [GRCh38]
Chr2:29436902 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.2217C>T (p.Tyr739=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002431668]|Neuroblastoma, susceptibility to, 3 [RCV000535103] |
Chr2:29239818 [GRCh38]
Chr2:29462684 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.922G>A (p.Gly308Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000539346] |
Chr2:29694880 [GRCh38]
Chr2:29917746 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.466G>A (p.Gly156Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000539740] |
Chr2:29920194 [GRCh38]
Chr2:30143060 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.228C>G (p.Ser76=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293709] |
Chr2:29920432 [GRCh38]
Chr2:30143298 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3998A>C (p.Lys1333Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293722] |
Chr2:29197617 [GRCh38]
Chr2:29420483 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3493C>T (p.Leu1165Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293727] |
Chr2:29222366 [GRCh38]
Chr2:29445232 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1670G>A (p.Arg557His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000535999]|not provided [RCV003441935] |
Chr2:29297035 [GRCh38]
Chr2:29519901 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4522G>A (p.Gly1508Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002255454]|Neuroblastoma, susceptibility to, 3 [RCV000558555] |
Chr2:29193565 [GRCh38]
Chr2:29416431 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.712_714del (p.Pro238del) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV000536160] |
Chr2:29717651..29717653 [GRCh38]
Chr2:29940517..29940519 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3646-5C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000558711] |
Chr2:29214086 [GRCh38]
Chr2:29436952 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3769_3770del (p.Leu1257fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002367901]|Neuroblastoma, susceptibility to, 3 [RCV000536393] |
Chr2:29209852..29209853 [GRCh38]
Chr2:29432718..29432719 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2285T>A (p.Ile762Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002448744]|Neuroblastoma, susceptibility to, 3 [RCV000536579] |
Chr2:29239750 [GRCh38]
Chr2:29462616 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1625C>T (p.Pro542Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002404507]|Neuroblastoma, susceptibility to, 3 [RCV000536801] |
Chr2:29318326 [GRCh38]
Chr2:29541192 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2979C>T (p.Asp993=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002257823]|Neuroblastoma, susceptibility to, 3 [RCV000540706] |
Chr2:29227010 [GRCh38]
Chr2:29449876 [GRCh37]
Chr2:2p23.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004304.5(ALK):c.407G>A (p.Arg136Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000536858] |
Chr2:29920253 [GRCh38]
Chr2:30143119 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3291C>T (p.Cys1097=) |
single nucleotide variant |
ALK-related condition [RCV003935486]|Hereditary cancer-predisposing syndrome [RCV001019712]|Neuroblastoma, susceptibility to, 3 [RCV001087799]|not provided [RCV000731882] |
Chr2:29223410 [GRCh38]
Chr2:29446276 [GRCh37]
Chr2:2p23.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004304.5(ALK):c.3566C>A (p.Ser1189Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002456192]|Neuroblastoma, susceptibility to, 3 [RCV000559785] |
Chr2:29220785 [GRCh38]
Chr2:29443651 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1062C>T (p.His354=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002413585]|Neuroblastoma, susceptibility to, 3 [RCV000541031] |
Chr2:29532007 [GRCh38]
Chr2:29754873 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.699G>A (p.Met233Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000559983] |
Chr2:29717666 [GRCh38]
Chr2:29940532 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.350C>G (p.Pro117Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002257825]|Neuroblastoma, susceptibility to, 3 [RCV000541277]|not provided [RCV003159885] |
Chr2:29920310 [GRCh38]
Chr2:30143176 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.24G>T (p.Trp8Cys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647375] |
Chr2:29920636 [GRCh38]
Chr2:30143502 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2639G>A (p.Gly880Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002458112]|Neuroblastoma, susceptibility to, 3 [RCV000647376] |
Chr2:29229060 [GRCh38]
Chr2:29451926 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.919C>T (p.Pro307Ser) |
single nucleotide variant |
ALK-related condition [RCV003411528]|Neuroblastoma, susceptibility to, 3 [RCV000647377] |
Chr2:29694883 [GRCh38]
Chr2:29917749 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2596T>C (p.Ser866Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647379] |
Chr2:29232340 [GRCh38]
Chr2:29455206 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.641G>A (p.Arg214His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647380] |
Chr2:29920019 [GRCh38]
Chr2:30142885 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2487+4_2487+5insA |
insertion |
ALK-related condition [RCV003403493]|Neuroblastoma, susceptibility to, 3 [RCV000647381] |
Chr2:29233560..29233561 [GRCh38]
Chr2:29456426..29456427 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1214A>T (p.Glu405Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647382] |
Chr2:29383800 [GRCh38]
Chr2:29606666 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3541C>T (p.Arg1181Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020559]|Neuroblastoma, susceptibility to, 3 [RCV000647383] |
Chr2:29220810 [GRCh38]
Chr2:29443676 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.822G>A (p.Leu274=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647384] |
Chr2:29694980 [GRCh38]
Chr2:29917846 [GRCh37]
Chr2:2p23.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_004304.5(ALK):c.2818G>A (p.Gly940Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647385] |
Chr2:29227670 [GRCh38]
Chr2:29450536 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3574C>T (p.Arg1192Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020643]|Neuroblastoma, susceptibility to, 3 [RCV000647386] |
Chr2:29220777 [GRCh38]
Chr2:29443643 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.409C>G (p.Arg137Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647387] |
Chr2:29920251 [GRCh38]
Chr2:30143117 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.202G>T (p.Ala68Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002422360]|Neuroblastoma, susceptibility to, 3 [RCV000647389]|not provided [RCV002510943] |
Chr2:29920458 [GRCh38]
Chr2:30143324 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4768G>A (p.Gly1590Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003303053]|Neuroblastoma, susceptibility to, 3 [RCV000647390] |
Chr2:29193319 [GRCh38]
Chr2:29416185 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.640C>T (p.Arg214Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002360610]|Neuroblastoma, susceptibility to, 3 [RCV000647391]|not provided [RCV002461959] |
Chr2:29920020 [GRCh38]
Chr2:30142886 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.290C>G (p.Pro97Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647392] |
Chr2:29920370 [GRCh38]
Chr2:30143236 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2470G>T (p.Ala824Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003162947]|Neuroblastoma, susceptibility to, 3 [RCV000647393] |
Chr2:29233582 [GRCh38]
Chr2:29456448 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3181C>T (p.Arg1061Trp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647394] |
Chr2:29223520 [GRCh38]
Chr2:29446386 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3526C>A (p.His1176Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647395] |
Chr2:29220825 [GRCh38]
Chr2:29443691 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.365C>T (p.Thr122Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647396] |
Chr2:29920295 [GRCh38]
Chr2:30143161 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4262T>G (p.Val1421Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002331217]|Neuroblastoma, susceptibility to, 3 [RCV000647397]|not provided [RCV003233792] |
Chr2:29193825 [GRCh38]
Chr2:29416691 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1517T>C (p.Leu506Pro) |
single nucleotide variant |
Familial isolated pituitary adenoma [RCV001775142]|Neuroblastoma, susceptibility to, 3 [RCV000647400] |
Chr2:29320780 [GRCh38]
Chr2:29543646 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3118G>A (p.Val1040Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647402] |
Chr2:29225515 [GRCh38]
Chr2:29448381 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3017G>T (p.Cys1006Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002440334]|Neuroblastoma, susceptibility to, 3 [RCV000647403] |
Chr2:29226972 [GRCh38]
Chr2:29449838 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1148A>T (p.Lys383Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647404]|not provided [RCV003226963] |
Chr2:29531921 [GRCh38]
Chr2:29754787 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.244G>A (p.Ala82Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647408] |
Chr2:29920416 [GRCh38]
Chr2:30143282 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4658C>G (p.Ala1553Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002331218]|Neuroblastoma, susceptibility to, 3 [RCV000647410]|not provided [RCV001357167] |
Chr2:29193429 [GRCh38]
Chr2:29416295 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1790T>C (p.Val597Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647411] |
Chr2:29296915 [GRCh38]
Chr2:29519781 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.628G>A (p.Ala210Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647412] |
Chr2:29920032 [GRCh38]
Chr2:30142898 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.953G>A (p.Gly318Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003162949]|Neuroblastoma, susceptibility to, 3 [RCV000647415] |
Chr2:29532116 [GRCh38]
Chr2:29754982 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1024A>G (p.Ser342Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647416] |
Chr2:29532045 [GRCh38]
Chr2:29754911 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.455A>G (p.Glu152Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003162950]|Neuroblastoma, susceptibility to, 3 [RCV000647418] |
Chr2:29920205 [GRCh38]
Chr2:30143071 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.830C>A (p.Ser277Tyr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647420] |
Chr2:29694972 [GRCh38]
Chr2:29917838 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.692C>G (p.Thr231Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002256446]|Neuroblastoma, susceptibility to, 3 [RCV000647423]|not provided [RCV003317320] |
Chr2:29717673 [GRCh38]
Chr2:29940539 [GRCh37]
Chr2:2p23.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004304.5(ALK):c.397C>T (p.Arg133Cys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647424] |
Chr2:29920263 [GRCh38]
Chr2:30143129 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1361C>T (p.Ala454Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002257900]|Neuroblastoma, susceptibility to, 3 [RCV000647430]|not provided [RCV003237974] |
Chr2:29328403 [GRCh38]
Chr2:29551269 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1875T>G (p.Phe625Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002406427]|Neuroblastoma, susceptibility to, 3 [RCV000647431] |
Chr2:29275439 [GRCh38]
Chr2:29498305 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1235G>A (p.Arg412His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002360611]|Neuroblastoma, susceptibility to, 3 [RCV000647434]|not provided [RCV003156274] |
Chr2:29383779 [GRCh38]
Chr2:29606645 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3002G>A (p.Ser1001Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003303054]|Neuroblastoma, susceptibility to, 3 [RCV000647438] |
Chr2:29226987 [GRCh38]
Chr2:29449853 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.84C>T (p.Arg28=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002449061]|Neuroblastoma, susceptibility to, 3 [RCV000647439] |
Chr2:29920576 [GRCh38]
Chr2:30143442 [GRCh37]
Chr2:2p23.1 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.506A>G (p.Asn169Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002257901]|Neuroblastoma, susceptibility to, 3 [RCV000647440] |
Chr2:29920154 [GRCh38]
Chr2:30143020 [GRCh37]
Chr2:2p23.1 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.3236A>C (p.Lys1079Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002449062]|Neuroblastoma, susceptibility to, 3 [RCV000647442]|not provided [RCV003128677] |
Chr2:29223465 [GRCh38]
Chr2:29446331 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.313G>A (p.Ala105Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647444] |
Chr2:29920347 [GRCh38]
Chr2:30143213 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2740G>A (p.Gly914Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647447] |
Chr2:29228959 [GRCh38]
Chr2:29451825 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.456G>C (p.Glu152Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647456] |
Chr2:29920204 [GRCh38]
Chr2:30143070 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3409G>A (p.Gly1137Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020225]|Neuroblastoma, susceptibility to, 3 [RCV000647457]|not provided [RCV001766395] |
Chr2:29222558 [GRCh38]
Chr2:29445424 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4537G>A (p.Glu1513Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002331222]|Neuroblastoma, susceptibility to, 3 [RCV000647458]|not provided [RCV003441994] |
Chr2:29193550 [GRCh38]
Chr2:29416416 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4226A>G (p.Glu1409Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002331223]|Neuroblastoma, susceptibility to, 3 [RCV000647459]|not provided [RCV003327438] |
Chr2:29193861 [GRCh38]
Chr2:29416727 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1246G>T (p.Ala416Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002388116]|Neuroblastoma, susceptibility to, 3 [RCV000647462] |
Chr2:29383768 [GRCh38]
Chr2:29606634 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1787T>C (p.Met596Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002406428]|Neuroblastoma, susceptibility to, 3 [RCV000647463]|not provided [RCV003106011] |
Chr2:29296918 [GRCh38]
Chr2:29519784 [GRCh37]
Chr2:2p23.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004304.5(ALK):c.886G>A (p.Glu296Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002256447]|Neuroblastoma, susceptibility to, 3 [RCV000647483] |
Chr2:29694916 [GRCh38]
Chr2:29917782 [GRCh37]
Chr2:2p23.2 |
benign|likely benign|uncertain significance |
| NM_004304.5(ALK):c.3042G>A (p.Leu1014=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002449063]|Neuroblastoma, susceptibility to, 3 [RCV000647485] |
Chr2:29226947 [GRCh38]
Chr2:29449813 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4683G>A (p.Ser1561=) |
single nucleotide variant |
ALK-related condition [RCV003983155]|Hereditary cancer-predisposing syndrome [RCV002334168]|Neuroblastoma, susceptibility to, 3 [RCV000647487] |
Chr2:29193404 [GRCh38]
Chr2:29416270 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4122C>T (p.Pro1374=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002325283]|Neuroblastoma, susceptibility to, 3 [RCV000647488] |
Chr2:29196812 [GRCh38]
Chr2:29419678 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3450+7A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647491] |
Chr2:29222510 [GRCh38]
Chr2:29445376 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1044C>T (p.Ala348=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002397272]|Neuroblastoma, susceptibility to, 3 [RCV000647492] |
Chr2:29532025 [GRCh38]
Chr2:29754891 [GRCh37]
Chr2:2p23.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_004304.5(ALK):c.377T>C (p.Val126Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002360613]|Neuroblastoma, susceptibility to, 3 [RCV000647495] |
Chr2:29920283 [GRCh38]
Chr2:30143149 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.2820C>A (p.Gly940=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647496] |
Chr2:29227668 [GRCh38]
Chr2:29450534 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2480T>C (p.Val827Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000555508] |
Chr2:29233572 [GRCh38]
Chr2:29456438 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3509T>A (p.Ile1170Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000533103] |
Chr2:29222350 [GRCh38]
Chr2:29445216 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3958T>C (p.Trp1320Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021520]|Neuroblastoma, susceptibility to, 3 [RCV000534151]|not provided [RCV003228949] |
Chr2:29197657 [GRCh38]
Chr2:29420523 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.731A>C (p.Asn244Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002384195]|Neuroblastoma, susceptibility to, 3 [RCV000556786] |
Chr2:29717634 [GRCh38]
Chr2:29940500 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.13G>A (p.Gly5Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000534322] |
Chr2:29920647 [GRCh38]
Chr2:30143513 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1102C>T (p.His368Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003306624] |
Chr2:29531967 [GRCh38]
Chr2:29754833 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3192G>A (p.Gln1064=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002324013]|Neuroblastoma, susceptibility to, 3 [RCV000557235] |
Chr2:29223509 [GRCh38]
Chr2:29446375 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4524C>T (p.Gly1508=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002341397]|Neuroblastoma, susceptibility to, 3 [RCV000534746] |
Chr2:29193563 [GRCh38]
Chr2:29416429 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4019A>G (p.Glu1340Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570452]|Neuroblastoma, susceptibility to, 3 [RCV000819572] |
Chr2:29197596 [GRCh38]
Chr2:29420462 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1665C>T (p.Leu555=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002404509]|Neuroblastoma, susceptibility to, 3 [RCV000557409] |
Chr2:29297040 [GRCh38]
Chr2:29519906 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3338G>A (p.Arg1113Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000566636]|Neuroblastoma, susceptibility to, 3 [RCV000647454]|not provided [RCV001354522] |
Chr2:29223363 [GRCh38]
Chr2:29446229 [GRCh37]
Chr2:2p23.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004304.5(ALK):c.1705G>A (p.Val569Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000524799] |
Chr2:29297000 [GRCh38]
Chr2:29519866 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2632+11dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV002256405]|Neuroblastoma, susceptibility to, 3 [RCV002063037]|not specified [RCV000607105] |
Chr2:29232292..29232293 [GRCh38]
Chr2:29455158..29455159 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.4072G>A (p.Val1358Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002324016]|Neuroblastoma, susceptibility to, 3 [RCV000528824] |
Chr2:29197543 [GRCh38]
Chr2:29420409 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.769T>A (p.Ser257Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003300775] |
Chr2:29717596 [GRCh38]
Chr2:29940462 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.723T>G (p.Phe241Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293703]|Neuroblastoma, susceptibility to, 3 [RCV003777228] |
Chr2:29717642 [GRCh38]
Chr2:29940508 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3097C>A (p.Leu1033Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293707] |
Chr2:29225536 [GRCh38]
Chr2:29448402 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1410G>T (p.Met470Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293708] |
Chr2:29328354 [GRCh38]
Chr2:29551220 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3522C>T (p.Phe1174=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293716] |
Chr2:29220829 [GRCh38]
Chr2:29443695 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1728G>A (p.Glu576=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293723] |
Chr2:29296977 [GRCh38]
Chr2:29519843 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1337G>C (p.Gly446Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293724] |
Chr2:29328427 [GRCh38]
Chr2:29551293 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1229G>C (p.Gly410Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293728] |
Chr2:29383785 [GRCh38]
Chr2:29606651 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1820T>A (p.Phe607Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002413586]|Neuroblastoma, susceptibility to, 3 [RCV000533210] |
Chr2:29275494 [GRCh38]
Chr2:29498360 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4810T>C (p.Tyr1604His) |
single nucleotide variant |
not provided [RCV003313471] |
Chr2:29193277 [GRCh38]
Chr2:29416143 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1817+11T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002256406]|Neuroblastoma, susceptibility to, 3 [RCV002063146]|not specified [RCV000612140] |
Chr2:29296877 [GRCh38]
Chr2:29519743 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.315G>A (p.Ala105=) |
single nucleotide variant |
ALK-related condition [RCV003915588]|Hereditary cancer-predisposing syndrome [RCV002324012]|Neuroblastoma, susceptibility to, 3 [RCV000536653] |
Chr2:29920345 [GRCh38]
Chr2:30143211 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3978A>G (p.Gly1326=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002324014]|Neuroblastoma, susceptibility to, 3 [RCV000559323] |
Chr2:29197637 [GRCh38]
Chr2:29420503 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4193C>T (p.Pro1398Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000540490]|not provided [RCV003226944] |
Chr2:29193894 [GRCh38]
Chr2:29416760 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1566T>C (p.Ser522=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002404506]|Neuroblastoma, susceptibility to, 3 [RCV000559450] |
Chr2:29318385 [GRCh38]
Chr2:29541251 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.153G>A (p.Arg51=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002404503]|Neuroblastoma, susceptibility to, 3 [RCV000540965] |
Chr2:29920507 [GRCh38]
Chr2:30143373 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4761G>C (p.Gln1587His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003159886]|Neuroblastoma, susceptibility to, 3 [RCV000541092] |
Chr2:29193326 [GRCh38]
Chr2:29416192 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1155-20_1155-19del |
microsatellite |
Neuroblastoma, susceptibility to, 3 [RCV002066724]|not specified [RCV000616106] |
Chr2:29383878..29383879 [GRCh38]
Chr2:29606744..29606745 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.3750T>G (p.Ile1250Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021050]|Neuroblastoma, susceptibility to, 3 [RCV000560206] |
Chr2:29209872 [GRCh38]
Chr2:29432738 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1279G>A (p.Glu427Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002384194]|Neuroblastoma, susceptibility to, 3 [RCV000537783] |
Chr2:29383735 [GRCh38]
Chr2:29606601 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2130G>A (p.Leu710=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002420487]|Neuroblastoma, susceptibility to, 3 [RCV000533651] |
Chr2:29251179 [GRCh38]
Chr2:29474045 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4481G>A (p.Gly1494Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001022554]|Neuroblastoma, susceptibility to, 3 [RCV000537937]|not provided [RCV002461313] |
Chr2:29193606 [GRCh38]
Chr2:29416472 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3641G>A (p.Arg1214His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572491]|Neuroblastoma, susceptibility to, 3 [RCV000647421] |
Chr2:29220710 [GRCh38]
Chr2:29443576 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.320G>T (p.Gly107Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002448747]|Neuroblastoma, susceptibility to, 3 [RCV000538109] |
Chr2:29920340 [GRCh38]
Chr2:30143206 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.102G>A (p.Ala34=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002385940]|Neuroblastoma, susceptibility to, 3 [RCV001205897]|not specified [RCV000616427] |
Chr2:29920558 [GRCh38]
Chr2:30143424 [GRCh37]
Chr2:2p23.1 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.661G>C (p.Gly221Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001025462]|Neuroblastoma, susceptibility to, 3 [RCV000560898] |
Chr2:29919999 [GRCh38]
Chr2:30142865 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3123C>T (p.Thr1041=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003162736]|Neuroblastoma, susceptibility to, 3 [RCV001422851]|not specified [RCV000616617] |
Chr2:29225510 [GRCh38]
Chr2:29448376 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3866C>T (p.Ala1289Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000556638] |
Chr2:29207243 [GRCh38]
Chr2:29430109 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2654A>G (p.Asp885Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000556665]|not provided [RCV003324764] |
Chr2:29229045 [GRCh38]
Chr2:29451911 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1193A>G (p.Asn398Ser) |
single nucleotide variant |
Familial isolated pituitary adenoma [RCV001775131]|Neuroblastoma, susceptibility to, 3 [RCV000556781] |
Chr2:29383821 [GRCh38]
Chr2:29606687 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3401A>T (p.Gln1134Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020209]|Neuroblastoma, susceptibility to, 3 [RCV000538538] |
Chr2:29222566 [GRCh38]
Chr2:29445432 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1725G>C (p.Lys575Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003159883]|Neuroblastoma, susceptibility to, 3 [RCV000538689]|not provided [RCV002245007] |
Chr2:29296980 [GRCh38]
Chr2:29519846 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3640C>T (p.Arg1214Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570349]|Neuroblastoma, susceptibility to, 3 [RCV002530324] |
Chr2:29220711 [GRCh38]
Chr2:29443577 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1414+2T>G |
single nucleotide variant |
not provided [RCV003318320] |
Chr2:29328348 [GRCh38]
Chr2:29551214 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3515+18C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002064378]|not specified [RCV000608433] |
Chr2:29222326 [GRCh38]
Chr2:29445192 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.2417G>A (p.Arg806His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002258963]|Neuroblastoma, susceptibility to, 3 [RCV000539294] |
Chr2:29233635 [GRCh38]
Chr2:29456501 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4040G>A (p.Arg1347Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021736]|Neuroblastoma, susceptibility to, 3 [RCV000535513] |
Chr2:29197575 [GRCh38]
Chr2:29420441 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2073C>T (p.Ser691=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002420486]|Neuroblastoma, susceptibility to, 3 [RCV000558370] |
Chr2:29251236 [GRCh38]
Chr2:29474102 [GRCh37]
Chr2:2p23.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_004304.5(ALK):c.3432C>T (p.Pro1144=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020295]|Neuroblastoma, susceptibility to, 3 [RCV000539795] |
Chr2:29222535 [GRCh38]
Chr2:29445401 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1345C>T (p.Leu449Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293714] |
Chr2:29328419 [GRCh38]
Chr2:29551285 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2867T>C (p.Val956Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293719] |
Chr2:29227621 [GRCh38]
Chr2:29450487 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.-6G>A |
single nucleotide variant |
not specified [RCV000611785] |
Chr2:29920665 [GRCh38]
Chr2:30143531 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.141G>A (p.Ser47=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002395429]|Neuroblastoma, susceptibility to, 3 [RCV000540236] |
Chr2:29920519 [GRCh38]
Chr2:30143385 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.871C>T (p.Arg291Cys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000540271]|not provided [RCV001355742] |
Chr2:29694931 [GRCh38]
Chr2:29917797 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3172+12G>C |
single nucleotide variant |
not specified [RCV000603657] |
Chr2:29225449 [GRCh38]
Chr2:29448315 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3321C>A (p.Asp1107Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647388] |
Chr2:29223380 [GRCh38]
Chr2:29446246 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2257C>T (p.Arg753Trp) |
single nucleotide variant |
ALK-related condition [RCV003424231]|Neuroblastoma, susceptibility to, 3 [RCV000647398] |
Chr2:29239778 [GRCh38]
Chr2:29462644 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2275G>A (p.Val759Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002449060]|Neuroblastoma, susceptibility to, 3 [RCV000647399]|not provided [RCV003117453] |
Chr2:29239760 [GRCh38]
Chr2:29462626 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.893C>G (p.Ala298Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002369720]|Neuroblastoma, susceptibility to, 3 [RCV000647405] |
Chr2:29694909 [GRCh38]
Chr2:29917775 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2821A>C (p.Asn941His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003162948]|Neuroblastoma, susceptibility to, 3 [RCV000647406] |
Chr2:29227667 [GRCh38]
Chr2:29450533 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1568C>T (p.Thr523Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002397269]|Neuroblastoma, susceptibility to, 3 [RCV000647407] |
Chr2:29318383 [GRCh38]
Chr2:29541249 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3684C>G (p.His1228Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002458113]|Neuroblastoma, susceptibility to, 3 [RCV000647409]|not provided [RCV003317319] |
Chr2:29214043 [GRCh38]
Chr2:29436909 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.843T>A (p.His281Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647413] |
Chr2:29694959 [GRCh38]
Chr2:29917825 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.952+3A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647414]|not provided [RCV003313124] |
Chr2:29694847 [GRCh38]
Chr2:29917713 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1514C>T (p.Thr505Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002388115]|Neuroblastoma, susceptibility to, 3 [RCV000647417] |
Chr2:29320783 [GRCh38]
Chr2:29543649 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4606G>A (p.Glu1536Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003162951]|Neuroblastoma, susceptibility to, 3 [RCV000647419] |
Chr2:29193481 [GRCh38]
Chr2:29416347 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.389G>T (p.Gly130Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647425] |
Chr2:29920271 [GRCh38]
Chr2:30143137 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4744G>A (p.Val1582Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002331219]|Neuroblastoma, susceptibility to, 3 [RCV000647426] |
Chr2:29193343 [GRCh38]
Chr2:29416209 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.931C>T (p.Arg311Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002369721]|Neuroblastoma, susceptibility to, 3 [RCV000647427] |
Chr2:29694871 [GRCh38]
Chr2:29917737 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4682C>T (p.Ser1561Leu) |
single nucleotide variant |
ALK-related condition [RCV003403494]|Hereditary cancer-predisposing syndrome [RCV002331220]|Neuroblastoma, susceptibility to, 3 [RCV000647428] |
Chr2:29193405 [GRCh38]
Chr2:29416271 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2900C>A (p.Thr967Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002440335]|Neuroblastoma, susceptibility to, 3 [RCV000647429] |
Chr2:29227588 [GRCh38]
Chr2:29450454 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3645+2T>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647432] |
Chr2:29220704 [GRCh38]
Chr2:29443570 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.941A>G (p.Glu314Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647433] |
Chr2:29694861 [GRCh38]
Chr2:29917727 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3778C>G (p.Pro1260Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002360612]|Neuroblastoma, susceptibility to, 3 [RCV000647435] |
Chr2:29209844 [GRCh38]
Chr2:29432710 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3450_3450+1delinsTT |
indel |
Hereditary cancer-predisposing syndrome [RCV002458114]|Neuroblastoma, susceptibility to, 3 [RCV000647436] |
Chr2:29222516..29222517 [GRCh38]
Chr2:29445382..29445383 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1249G>C (p.Val417Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002397270]|Neuroblastoma, susceptibility to, 3 [RCV000647437] |
Chr2:29383765 [GRCh38]
Chr2:29606631 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4303G>C (p.Glu1435Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647441] |
Chr2:29193784 [GRCh38]
Chr2:29416650 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4421G>A (p.Gly1474Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647446] |
Chr2:29193666 [GRCh38]
Chr2:29416532 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3644C>T (p.Pro1215Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020787]|Neuroblastoma, susceptibility to, 3 [RCV000647448] |
Chr2:29220707 [GRCh38]
Chr2:29443573 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3574C>G (p.Arg1192Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020642]|Neuroblastoma, susceptibility to, 3 [RCV000647449] |
Chr2:29220777 [GRCh38]
Chr2:29443643 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1834G>A (p.Val612Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647450]|not provided [RCV003313125] |
Chr2:29275480 [GRCh38]
Chr2:29498346 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4842C>T (p.Ser1614=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002331221]|Neuroblastoma, susceptibility to, 3 [RCV000647451] |
Chr2:29193245 [GRCh38]
Chr2:29416111 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.175G>T (p.Val59Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002397271]|Neuroblastoma, susceptibility to, 3 [RCV000647452] |
Chr2:29920485 [GRCh38]
Chr2:30143351 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.357G>T (p.Glu119Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003162952]|Neuroblastoma, susceptibility to, 3 [RCV000647455]|Ovarian cancer [RCV003153787] |
Chr2:29920303 [GRCh38]
Chr2:30143169 [GRCh37]
Chr2:2p23.1 |
benign|uncertain significance |
| NM_004304.5(ALK):c.2504C>T (p.Pro835Leu) |
single nucleotide variant |
ALK-related condition [RCV003411529]|Hereditary cancer-predisposing syndrome [RCV002255490]|Neuroblastoma, susceptibility to, 3 [RCV000647460]|not provided [RCV003235325] |
Chr2:29232432 [GRCh38]
Chr2:29455298 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4117A>G (p.Arg1373Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002325281]|Neuroblastoma, susceptibility to, 3 [RCV000647461] |
Chr2:29196817 [GRCh38]
Chr2:29419683 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.124G>C (p.Glu42Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002406429]|Neuroblastoma, susceptibility to, 3 [RCV000647464] |
Chr2:29920536 [GRCh38]
Chr2:30143402 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1729C>A (p.Gln577Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002406430]|Neuroblastoma, susceptibility to, 3 [RCV000647465] |
Chr2:29296976 [GRCh38]
Chr2:29519842 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.616G>A (p.Ala206Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002255491]|Inborn genetic diseases [RCV002530488]|Neuroblastoma, susceptibility to, 3 [RCV000647466]|not provided [RCV003488760] |
Chr2:29920044 [GRCh38]
Chr2:30142910 [GRCh37]
Chr2:2p23.1 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.4114G>T (p.Asp1372Tyr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647467] |
Chr2:29196820 [GRCh38]
Chr2:29419686 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4642G>A (p.Gly1548Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002331224]|Neuroblastoma, susceptibility to, 3 [RCV000647468] |
Chr2:29193445 [GRCh38]
Chr2:29416311 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4748A>G (p.Asn1583Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647469]|not provided [RCV002285387] |
Chr2:29193339 [GRCh38]
Chr2:29416205 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4613G>T (p.Ser1538Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647470] |
Chr2:29193474 [GRCh38]
Chr2:29416340 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.280G>T (p.Asp94Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002440336]|Neuroblastoma, susceptibility to, 3 [RCV000647471] |
Chr2:29920380 [GRCh38]
Chr2:30143246 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1977C>G (p.Asn659Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002422361]|Neuroblastoma, susceptibility to, 3 [RCV000647472] |
Chr2:29275163 [GRCh38]
Chr2:29498029 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2546A>G (p.Tyr849Cys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647473] |
Chr2:29232390 [GRCh38]
Chr2:29455256 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.409C>T (p.Arg137Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003162953]|Neuroblastoma, susceptibility to, 3 [RCV000647474] |
Chr2:29920251 [GRCh38]
Chr2:30143117 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1911C>T (p.Thr637=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002406431]|Neuroblastoma, susceptibility to, 3 [RCV000647475] |
Chr2:29275403 [GRCh38]
Chr2:29498269 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.4813G>A (p.Glu1605Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002258991]|Neuroblastoma, susceptibility to, 3 [RCV000647476] |
Chr2:29193274 [GRCh38]
Chr2:29416140 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.826T>C (p.Tyr276His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003303055]|Neuroblastoma, susceptibility to, 3 [RCV000647477] |
Chr2:29694976 [GRCh38]
Chr2:29917842 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3289T>C (p.Cys1097Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002325282]|Neuroblastoma, susceptibility to, 3 [RCV000647478] |
Chr2:29223412 [GRCh38]
Chr2:29446278 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2236G>A (p.Gly746Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647479] |
Chr2:29239799 [GRCh38]
Chr2:29462665 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2264A>T (p.His755Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003352967]|Neuroblastoma, susceptibility to, 3 [RCV000647480] |
Chr2:29239771 [GRCh38]
Chr2:29462637 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4516A>G (p.Thr1506Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647481] |
Chr2:29193571 [GRCh38]
Chr2:29416437 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4418G>A (p.Gly1473Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647482] |
Chr2:29193669 [GRCh38]
Chr2:29416535 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1854A>C (p.Gly618=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002256448]|Neuroblastoma, susceptibility to, 3 [RCV000647484] |
Chr2:29275460 [GRCh38]
Chr2:29498326 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2763C>T (p.Phe921=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002256449]|Neuroblastoma, susceptibility to, 3 [RCV000647486] |
Chr2:29228936 [GRCh38]
Chr2:29451802 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2042-9G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647489] |
Chr2:29251276 [GRCh38]
Chr2:29474142 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1154+4A>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001402804] |
Chr2:29531911 [GRCh38]
Chr2:29754777 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2505G>A (p.Pro835=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001015783]|Neuroblastoma, susceptibility to, 3 [RCV000647493] |
Chr2:29232431 [GRCh38]
Chr2:29455297 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3743+7C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647494] |
Chr2:29213977 [GRCh38]
Chr2:29436843 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3576G>T (p.Arg1192=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002458115]|Neuroblastoma, susceptibility to, 3 [RCV000647500] |
Chr2:29220775 [GRCh38]
Chr2:29443641 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4821C>G (p.Thr1607=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002334169]|Neuroblastoma, susceptibility to, 3 [RCV000647501] |
Chr2:29193266 [GRCh38]
Chr2:29416132 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3684C>T (p.His1228=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020876]|Neuroblastoma, susceptibility to, 3 [RCV001413006] |
Chr2:29214043 [GRCh38]
Chr2:29436909 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2238C>T (p.Gly746=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002258992]|Neuroblastoma, susceptibility to, 3 [RCV000647505] |
Chr2:29239797 [GRCh38]
Chr2:29462663 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4737T>C (p.Cys1579=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001022973]|Neuroblastoma, susceptibility to, 3 [RCV000647506] |
Chr2:29193350 [GRCh38]
Chr2:29416216 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1546+4C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647508] |
Chr2:29320747 [GRCh38]
Chr2:29543613 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NC_000002.11:g.(?_29416084)_(29754988_?)dup |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV000647522] |
Chr2:29193218..29532122 [GRCh38]
Chr2:29416084..29754988 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.255C>T (p.Pro85=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002424491]|Neuroblastoma, susceptibility to, 3 [RCV000647521]|not provided [RCV003424232] |
Chr2:29920405 [GRCh38]
Chr2:30143271 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.336C>T (p.Ala112=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002458116]|Neuroblastoma, susceptibility to, 3 [RCV000647518] |
Chr2:29920324 [GRCh38]
Chr2:30143190 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1026T>C (p.Ser342=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002386084]|Neuroblastoma, susceptibility to, 3 [RCV000647517] |
Chr2:29532043 [GRCh38]
Chr2:29754909 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2265C>T (p.His755=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002257902]|Neuroblastoma, susceptibility to, 3 [RCV000647515] |
Chr2:29239770 [GRCh38]
Chr2:29462636 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.3067+10C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000647513] |
Chr2:29226912 [GRCh38]
Chr2:29449778 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3210G>A (p.Gln1070=) |
single nucleotide variant |
ALK-related condition [RCV003892468]|Hereditary cancer-predisposing syndrome [RCV002449064]|Neuroblastoma, susceptibility to, 3 [RCV000647512]|not provided [RCV002307573] |
Chr2:29223491 [GRCh38]
Chr2:29446357 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.1794G>C (p.Leu598Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003825659] |
Chr2:29296911 [GRCh38]
Chr2:29519777 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.22T>C (p.Trp8Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000699226] |
Chr2:29920638 [GRCh38]
Chr2:30143504 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4148T>C (p.Ile1383Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003163225]|Neuroblastoma, susceptibility to, 3 [RCV000698232] |
Chr2:29196786 [GRCh38]
Chr2:29419652 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2515A>G (p.Ile839Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000698411] |
Chr2:29232421 [GRCh38]
Chr2:29455287 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.49G>A (p.Ala17Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000698821] |
Chr2:29920611 [GRCh38]
Chr2:30143477 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.874C>T (p.Arg292Cys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000699607]|not provided [RCV003489823] |
Chr2:29694928 [GRCh38]
Chr2:29917794 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| GRCh37/hg19 2p23.2(chr2:29156446-29716164)x4 |
copy number gain |
not provided [RCV000682085] |
Chr2:29156446..29716164 [GRCh37]
Chr2:2p23.2 |
likely benign |
| GRCh37/hg19 2p23.2-22.3(chr2:29240004-32380876)x1 |
copy number loss |
not provided [RCV000682149] |
Chr2:29240004..32380876 [GRCh37]
Chr2:2p23.2-22.3 |
pathogenic |
| NM_004304.5(ALK):c.1270A>G (p.Asn424Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002369900]|Neuroblastoma, susceptibility to, 3 [RCV000697687]|not provided [RCV001797131] |
Chr2:29383744 [GRCh38]
Chr2:29606610 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2194G>A (p.Asp732Asn) |
single nucleotide variant |
Familial isolated pituitary adenoma [RCV000761178]|Neuroblastoma, susceptibility to, 3 [RCV000699154] |
Chr2:29251115 [GRCh38]
Chr2:29473981 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2952T>G (p.Tyr984Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000700224] |
Chr2:29227037 [GRCh38]
Chr2:29449903 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1034G>A (p.Cys345Tyr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000686067] |
Chr2:29532035 [GRCh38]
Chr2:29754901 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.551G>T (p.Arg184Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000700521] |
Chr2:29920109 [GRCh38]
Chr2:30142975 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1833G>T (p.Met611Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000686075] |
Chr2:29275481 [GRCh38]
Chr2:29498347 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3067+10C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000686811] |
Chr2:29226912 [GRCh38]
Chr2:29449778 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4164G>A (p.Gln1388=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000687359] |
Chr2:29196770 [GRCh38]
Chr2:29419636 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2204+5G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000701782] |
Chr2:29251100 [GRCh38]
Chr2:29473966 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.851G>A (p.Arg284Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000687597] |
Chr2:29694951 [GRCh38]
Chr2:29917817 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3178C>T (p.Arg1060Cys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000685274] |
Chr2:29223523 [GRCh38]
Chr2:29446389 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2151G>C (p.Glu717Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002424679]|Neuroblastoma, susceptibility to, 3 [RCV000698689] |
Chr2:29251158 [GRCh38]
Chr2:29474024 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1343T>A (p.Val448Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000685424] |
Chr2:29328421 [GRCh38]
Chr2:29551287 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4729T>G (p.Phe1577Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002334255]|Neuroblastoma, susceptibility to, 3 [RCV000686256] |
Chr2:29193358 [GRCh38]
Chr2:29416224 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.128C>G (p.Pro43Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000685884] |
Chr2:29920532 [GRCh38]
Chr2:30143398 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3905T>G (p.Met1302Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002352114]|Neuroblastoma, susceptibility to, 3 [RCV000686239] |
Chr2:29207204 [GRCh38]
Chr2:29430070 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4028C>T (p.Thr1343Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021707]|Neuroblastoma, susceptibility to, 3 [RCV000686469] |
Chr2:29197587 [GRCh38]
Chr2:29420453 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.2623G>A (p.Gly875Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000706675]|not provided [RCV003238195] |
Chr2:29232313 [GRCh38]
Chr2:29455179 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.719A>G (p.Tyr240Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002369875]|Neuroblastoma, susceptibility to, 3 [RCV000694546] |
Chr2:29717646 [GRCh38]
Chr2:29940512 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.3398G>T (p.Gly1133Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003163184]|Neuroblastoma, susceptibility to, 3 [RCV000694609] |
Chr2:29222569 [GRCh38]
Chr2:29445435 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.870G>A (p.Trp290Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000687194] |
Chr2:29694932 [GRCh38]
Chr2:29917798 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.830C>T (p.Ser277Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000687249] |
Chr2:29694972 [GRCh38]
Chr2:29917838 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.428T>G (p.Leu143Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000704200] |
Chr2:29920232 [GRCh38]
Chr2:30143098 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.352G>T (p.Ala118Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000706876] |
Chr2:29920308 [GRCh38]
Chr2:30143174 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4248G>T (p.Lys1416Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000694794]|not provided [RCV001797129] |
Chr2:29193839 [GRCh38]
Chr2:29416705 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.119C>A (p.Pro40His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000690131] |
Chr2:29920541 [GRCh38]
Chr2:30143407 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3307TCC[1] (p.Ser1104del) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV002325416]|Neuroblastoma, susceptibility to, 3 [RCV000701987] |
Chr2:29223389..29223391 [GRCh38]
Chr2:29446255..29446257 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4454C>T (p.Pro1485Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002331333]|Neuroblastoma, susceptibility to, 3 [RCV000687712] |
Chr2:29193633 [GRCh38]
Chr2:29416499 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4530G>C (p.Trp1510Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002334282]|Neuroblastoma, susceptibility to, 3 [RCV000690489] |
Chr2:29193557 [GRCh38]
Chr2:29416423 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1124T>C (p.Ile375Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000704681] |
Chr2:29531945 [GRCh38]
Chr2:29754811 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.833C>T (p.Pro278Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000704714] |
Chr2:29694969 [GRCh38]
Chr2:29917835 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2879_2884delinsT (p.Ser960fs) |
indel |
Neuroblastoma, susceptibility to, 3 [RCV000704797] |
Chr2:29227604..29227609 [GRCh38]
Chr2:29450470..29450475 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1155-10A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000690606] |
Chr2:29383869 [GRCh38]
Chr2:29606735 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1841G>T (p.Trp614Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003163118]|Neuroblastoma, susceptibility to, 3 [RCV000687955] |
Chr2:29275473 [GRCh38]
Chr2:29498339 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1022G>A (p.Ser341Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000687957] |
Chr2:29532047 [GRCh38]
Chr2:29754913 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4436C>T (p.Ala1479Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003163150]|Neuroblastoma, susceptibility to, 3 [RCV000690825] |
Chr2:29193651 [GRCh38]
Chr2:29416517 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3823C>T (p.Arg1275Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021230]|Neuroblastoma, susceptibility to, 3 [RCV000693511] |
Chr2:29209799 [GRCh38]
Chr2:29432665 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3814G>A (p.Gly1272Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003163170]|Neuroblastoma, susceptibility to, 3 [RCV000693546] |
Chr2:29209808 [GRCh38]
Chr2:29432674 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2283C>T (p.Gly761=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002442453]|Neuroblastoma, susceptibility to, 3 [RCV000693680] |
Chr2:29239752 [GRCh38]
Chr2:29462618 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.884C>T (p.Ser295Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000702429] |
Chr2:29694918 [GRCh38]
Chr2:29917784 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2818G>T (p.Gly940Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001016674]|Neuroblastoma, susceptibility to, 3 [RCV000688109] |
Chr2:29227670 [GRCh38]
Chr2:29450536 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3004C>T (p.His1002Tyr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000705006] |
Chr2:29226985 [GRCh38]
Chr2:29449851 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2624G>A (p.Gly875Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000690935] |
Chr2:29232312 [GRCh38]
Chr2:29455178 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2036C>T (p.Pro679Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000688259] |
Chr2:29275104 [GRCh38]
Chr2:29497970 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.446C>T (p.Ala149Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000688324] |
Chr2:29920214 [GRCh38]
Chr2:30143080 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2025del (p.Ile676fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV000693880] |
Chr2:29275115 [GRCh38]
Chr2:29497981 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3172+1G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000705359] |
Chr2:29225460 [GRCh38]
Chr2:29448326 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1496C>T (p.Pro499Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002388234]|Neuroblastoma, susceptibility to, 3 [RCV000691439] |
Chr2:29320801 [GRCh38]
Chr2:29543667 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.95C>T (p.Pro32Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000703099] |
Chr2:29920565 [GRCh38]
Chr2:30143431 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.350C>T (p.Pro117Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000694130] |
Chr2:29920310 [GRCh38]
Chr2:30143176 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4118G>A (p.Arg1373Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000694133] |
Chr2:29196816 [GRCh38]
Chr2:29419682 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.317C>G (p.Pro106Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000691876] |
Chr2:29920343 [GRCh38]
Chr2:30143209 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.266G>C (p.Gly89Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000691880] |
Chr2:29920394 [GRCh38]
Chr2:30143260 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.282C>G (p.Asp94Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000685350] |
Chr2:29920378 [GRCh38]
Chr2:30143244 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2946G>T (p.Lys982Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002440438]|Neuroblastoma, susceptibility to, 3 [RCV000689090] |
Chr2:29227043 [GRCh38]
Chr2:29449909 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2452G>A (p.Gly818Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000706090] |
Chr2:29233600 [GRCh38]
Chr2:29456466 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.740G>A (p.Trp247Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000699872] |
Chr2:29717625 [GRCh38]
Chr2:29940491 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2023C>T (p.Pro675Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003163097]|Neuroblastoma, susceptibility to, 3 [RCV000685756] |
Chr2:29275117 [GRCh38]
Chr2:29497983 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3095C>T (p.Pro1032Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002325353]|Neuroblastoma, susceptibility to, 3 [RCV000685807]|not provided [RCV003222099] |
Chr2:29225538 [GRCh38]
Chr2:29448404 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.971A>G (p.Asn324Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000703579] |
Chr2:29532098 [GRCh38]
Chr2:29754964 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4466T>G (p.Leu1489Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002332496]|Neuroblastoma, susceptibility to, 3 [RCV000703588] |
Chr2:29193621 [GRCh38]
Chr2:29416487 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4259G>A (p.Gly1420Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002332509]|Neuroblastoma, susceptibility to, 3 [RCV000706281] |
Chr2:29193828 [GRCh38]
Chr2:29416694 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2548G>C (p.Gly850Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000686335] |
Chr2:29232388 [GRCh38]
Chr2:29455254 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2344G>A (p.Ala782Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003303134]|Neuroblastoma, susceptibility to, 3 [RCV000692321] |
Chr2:29239691 [GRCh38]
Chr2:29462557 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.89G>A (p.Gly30Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002369829]|Neuroblastoma, susceptibility to, 3 [RCV000686628] |
Chr2:29920571 [GRCh38]
Chr2:30143437 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3128C>T (p.Ala1043Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002325360]|Neuroblastoma, susceptibility to, 3 [RCV000686482] |
Chr2:29225505 [GRCh38]
Chr2:29448371 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1413C>T (p.Cys471=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000686610] |
Chr2:29328351 [GRCh38]
Chr2:29551217 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2629G>T (p.Ala877Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000686637] |
Chr2:29232307 [GRCh38]
Chr2:29455173 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2489T>C (p.Met830Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003163135]|Neuroblastoma, susceptibility to, 3 [RCV000689775] |
Chr2:29232447 [GRCh38]
Chr2:29455313 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3595A>T (p.Met1199Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002334275]|Neuroblastoma, susceptibility to, 3 [RCV000689780] |
Chr2:29220756 [GRCh38]
Chr2:29443622 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.343C>T (p.Pro115Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002458318]|Neuroblastoma, susceptibility to, 3 [RCV000706489] |
Chr2:29920317 [GRCh38]
Chr2:30143183 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.980C>A (p.Ala327Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002386274]|Neuroblastoma, susceptibility to, 3 [RCV000706649] |
Chr2:29532089 [GRCh38]
Chr2:29754955 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3801G>C (p.Lys1267Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000697937] |
Chr2:29209821 [GRCh38]
Chr2:29432687 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2021C>A (p.Thr674Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000698575] |
Chr2:29275119 [GRCh38]
Chr2:29497985 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2204+4C>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000692407] |
Chr2:29251101 [GRCh38]
Chr2:29473967 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3360-3C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002325399]|Neuroblastoma, susceptibility to, 3 [RCV000697425] |
Chr2:29222610 [GRCh38]
Chr2:29445476 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.794A>G (p.Glu265Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000697420] |
Chr2:29695008 [GRCh38]
Chr2:29917874 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1042G>A (p.Ala348Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000687580] |
Chr2:29532027 [GRCh38]
Chr2:29754893 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1529G>A (p.Arg510Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000689840] |
Chr2:29320768 [GRCh38]
Chr2:29543634 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1766G>A (p.Gly589Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000689864] |
Chr2:29296939 [GRCh38]
Chr2:29519805 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2404GAA[2] (p.Glu804del) |
microsatellite |
Neuroblastoma, susceptibility to, 3 [RCV000697590] |
Chr2:29233640..29233642 [GRCh38]
Chr2:29456506..29456508 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4425C>A (p.His1475Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002332419]|Neuroblastoma, susceptibility to, 3 [RCV000690060] |
Chr2:29193662 [GRCh38]
Chr2:29416528 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1588G>C (p.Glu530Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000695111] |
Chr2:29318363 [GRCh38]
Chr2:29541229 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.760C>T (p.Pro254Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000702200]|not provided [RCV002307602] |
Chr2:29717605 [GRCh38]
Chr2:29940471 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2497G>T (p.Gly833Ter) |
single nucleotide variant |
ALK-related condition [RCV003892545]|Neuroblastoma, susceptibility to, 3 [RCV000693126] |
Chr2:29232439 [GRCh38]
Chr2:29455305 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1749T>A (p.His583Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000695234] |
Chr2:29296956 [GRCh38]
Chr2:29519822 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4312C>T (p.Pro1438Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002332454]|Neuroblastoma, susceptibility to, 3 [RCV000695315] |
Chr2:29193775 [GRCh38]
Chr2:29416641 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4724G>A (p.Arg1575His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000702351] |
Chr2:29193363 [GRCh38]
Chr2:29416229 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.501G>T (p.Gln167His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000690373] |
Chr2:29920159 [GRCh38]
Chr2:30143025 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.558G>C (p.Arg186Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002343456]|Neuroblastoma, susceptibility to, 3 [RCV000690430] |
Chr2:29920102 [GRCh38]
Chr2:30142968 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4247A>G (p.Lys1416Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003372831]|Neuroblastoma, susceptibility to, 3 [RCV000707175] |
Chr2:29193840 [GRCh38]
Chr2:29416706 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1669C>G (p.Arg557Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000688237] |
Chr2:29297036 [GRCh38]
Chr2:29519902 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2243A>C (p.Lys748Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002424695]|Neuroblastoma, susceptibility to, 3 [RCV000702598] |
Chr2:29239792 [GRCh38]
Chr2:29462658 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1871C>T (p.Ala624Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002406643]|Neuroblastoma, susceptibility to, 3 [RCV000704856] |
Chr2:29275443 [GRCh38]
Chr2:29498309 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4000A>G (p.Ser1334Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002325378]|Neuroblastoma, susceptibility to, 3 [RCV000690779] |
Chr2:29197615 [GRCh38]
Chr2:29420481 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.505A>G (p.Asn169Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000693634] |
Chr2:29920155 [GRCh38]
Chr2:30143021 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4696A>G (p.Met1566Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002334315]|Neuroblastoma, susceptibility to, 3 [RCV000695730] |
Chr2:29193391 [GRCh38]
Chr2:29416257 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3971C>G (p.Ser1324Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002369891]|Neuroblastoma, susceptibility to, 3 [RCV000695800] |
Chr2:29197644 [GRCh38]
Chr2:29420510 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.470C>T (p.Pro157Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002255161]|Neuroblastoma, susceptibility to, 3 [RCV000690874]|not provided [RCV003313133] |
Chr2:29920190 [GRCh38]
Chr2:30143056 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.248G>T (p.Gly83Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002424662]|Neuroblastoma, susceptibility to, 3 [RCV000695997] |
Chr2:29920412 [GRCh38]
Chr2:30143278 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3313A>G (p.Ile1105Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001019907]|Neuroblastoma, susceptibility to, 3 [RCV000691079]|not provided [RCV003322808] |
Chr2:29223388 [GRCh38]
Chr2:29446254 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2036C>G (p.Pro679Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003380694]|Neuroblastoma, susceptibility to, 3 [RCV000703237] |
Chr2:29275104 [GRCh38]
Chr2:29497970 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3516-3C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020494]|Neuroblastoma, susceptibility to, 3 [RCV000693992] |
Chr2:29220838 [GRCh38]
Chr2:29443704 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.775C>G (p.Arg259Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000696275] |
Chr2:29717590 [GRCh38]
Chr2:29940456 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.26_27delinsCG (p.Leu9Pro) |
indel |
Hereditary cancer-predisposing syndrome [RCV002257938]|Neuroblastoma, susceptibility to, 3 [RCV000696420]|not specified [RCV001816715] |
Chr2:29920633..29920634 [GRCh38]
Chr2:30143499..30143500 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3947G>A (p.Gly1316Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003163202]|Neuroblastoma, susceptibility to, 3 [RCV000696428]|not provided [RCV002307597] |
Chr2:29197668 [GRCh38]
Chr2:29420534 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2597C>T (p.Ser866Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000691465]|not provided [RCV003163153] |
Chr2:29232339 [GRCh38]
Chr2:29455205 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3229G>T (p.Glu1077Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000694168] |
Chr2:29223472 [GRCh38]
Chr2:29446338 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3020T>C (p.Phe1007Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002440467]|Neuroblastoma, susceptibility to, 3 [RCV000694191] |
Chr2:29226969 [GRCh38]
Chr2:29449835 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2204+4C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000696696] |
Chr2:29251101 [GRCh38]
Chr2:29473967 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4380G>C (p.Glu1460Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000699932] |
Chr2:29193707 [GRCh38]
Chr2:29416573 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1757C>T (p.Ala586Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000691667] |
Chr2:29296948 [GRCh38]
Chr2:29519814 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4210C>T (p.Leu1404Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002332461]|Neuroblastoma, susceptibility to, 3 [RCV000696766]|not provided [RCV003442038] |
Chr2:29193877 [GRCh38]
Chr2:29416743 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1418A>T (p.Lys473Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002388273]|Neuroblastoma, susceptibility to, 3 [RCV000696903] |
Chr2:29320879 [GRCh38]
Chr2:29543745 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1050G>A (p.Ser350=) |
single nucleotide variant |
ALK-related condition [RCV003892558]|Hereditary cancer-predisposing syndrome [RCV002397444]|Neuroblastoma, susceptibility to, 3 [RCV000700286] |
Chr2:29532019 [GRCh38]
Chr2:29754885 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.221C>T (p.Pro74Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002257926]|Neuroblastoma, susceptibility to, 3 [RCV000686168] |
Chr2:29920439 [GRCh38]
Chr2:30143305 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4276G>A (p.Val1426Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000689064] |
Chr2:29193811 [GRCh38]
Chr2:29416677 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1301A>G (p.Lys434Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000691858] |
Chr2:29328463 [GRCh38]
Chr2:29551329 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4833_4836del (p.Ser1611fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV000706011] |
Chr2:29193251..29193254 [GRCh38]
Chr2:29416117..29416120 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4724G>C (p.Arg1575Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002334298]|Neuroblastoma, susceptibility to, 3 [RCV000691990] |
Chr2:29193363 [GRCh38]
Chr2:29416229 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3645+6_3645+9del |
microsatellite |
Neuroblastoma, susceptibility to, 3 [RCV000686703] |
Chr2:29220697..29220700 [GRCh38]
Chr2:29443563..29443566 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1582G>A (p.Ala528Thr) |
single nucleotide variant |
Familial isolated pituitary adenoma [RCV000761066]|Neuroblastoma, susceptibility to, 3 [RCV000703520] |
Chr2:29318369 [GRCh38]
Chr2:29541235 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4264C>G (p.Pro1422Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002332508]|Neuroblastoma, susceptibility to, 3 [RCV000706213] |
Chr2:29193823 [GRCh38]
Chr2:29416689 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2110G>A (p.Ala704Thr) |
single nucleotide variant |
ALK-related condition [RCV003424290]|Neuroblastoma, susceptibility to, 3 [RCV000697086]|not provided [RCV001771972] |
Chr2:29251199 [GRCh38]
Chr2:29474065 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3481G>A (p.Glu1161Lys) |
single nucleotide variant |
ALK-related condition [RCV003403598]|Hereditary cancer-predisposing syndrome [RCV001020405]|Neuroblastoma, susceptibility to, 3 [RCV000689555] |
Chr2:29222378 [GRCh38]
Chr2:29445244 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 |
copy number gain |
not provided [RCV000752804] |
Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_004304.5(ALK):c.1788G>A (p.Met596Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003380810]|Neuroblastoma, susceptibility to, 3 [RCV001043075] |
Chr2:29296917 [GRCh38]
Chr2:29519783 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2914+57C>T |
single nucleotide variant |
not provided [RCV001565802] |
Chr2:29227517 [GRCh38]
Chr2:29450383 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4165-89_4165-88del |
microsatellite |
not provided [RCV001537302] |
Chr2:29194010..29194011 [GRCh38]
Chr2:29416876..29416877 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.3068-228A>T |
single nucleotide variant |
not provided [RCV001571247] |
Chr2:29225793 [GRCh38]
Chr2:29448659 [GRCh37]
Chr2:2p23.2 |
likely benign |
| GRCh37/hg19 2p24.1-16.3(chr2:22665048-52850368)x3 |
copy number gain |
not provided [RCV000752875] |
Chr2:22665048..52850368 [GRCh37]
Chr2:2p24.1-16.3 |
pathogenic |
| NM_004304.5(ALK):c.1647+95T>A |
single nucleotide variant |
not provided [RCV001541047] |
Chr2:29318209 [GRCh38]
Chr2:29541075 [GRCh37]
Chr2:2p23.2 |
likely benign |
| GRCh37/hg19 2p23.2(chr2:29958097-29961205)x1 |
copy number loss |
not provided [RCV000740360] |
Chr2:29958097..29961205 [GRCh37]
Chr2:2p23.2 |
benign |
| GRCh37/hg19 2p23.2(chr2:29958097-29962732)x1 |
copy number loss |
not provided [RCV000740361] |
Chr2:29958097..29962732 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.2802C>T (p.Gly934=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000871297] |
Chr2:29228897 [GRCh38]
Chr2:29451763 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3172+300C>G |
single nucleotide variant |
not provided [RCV001583082] |
Chr2:29225161 [GRCh38]
Chr2:29448027 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1913-7A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001505297] |
Chr2:29275234 [GRCh38]
Chr2:29498100 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.615C>T (p.Ser205=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003169300]|Neuroblastoma, susceptibility to, 3 [RCV001408247] |
Chr2:29920045 [GRCh38]
Chr2:30142911 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1415-6C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000960349] |
Chr2:29320888 [GRCh38]
Chr2:29543754 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3173-307A>G |
single nucleotide variant |
not provided [RCV001680220] |
Chr2:29223835 [GRCh38]
Chr2:29446701 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.3837-293A>G |
single nucleotide variant |
not provided [RCV001680399] |
Chr2:29207565 [GRCh38]
Chr2:29430431 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.3743+9A>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001479669] |
Chr2:29213975 [GRCh38]
Chr2:29436841 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1647+336C>T |
single nucleotide variant |
not provided [RCV001610088] |
Chr2:29317968 [GRCh38]
Chr2:29540834 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.4221G>A (p.Glu1407=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003353075]|not provided [RCV000872313] |
Chr2:29193866 [GRCh38]
Chr2:29416732 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1125C>A (p.Ile375=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002434272]|Neuroblastoma, susceptibility to, 3 [RCV001450276] |
Chr2:29531944 [GRCh38]
Chr2:29754810 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3186G>A (p.Lys1062=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001404109] |
Chr2:29223515 [GRCh38]
Chr2:29446381 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2041+8T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001475625] |
Chr2:29275091 [GRCh38]
Chr2:29497957 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2632+268_2632+269insTGGGTTTTACCAACT |
insertion |
not provided [RCV001725332] |
Chr2:29232035..29232036 [GRCh38]
Chr2:29454901..29454902 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.2356-320A>G |
single nucleotide variant |
not provided [RCV001648864] |
Chr2:29234016 [GRCh38]
Chr2:29456882 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.1218C>T (p.Tyr406=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000869812] |
Chr2:29383796 [GRCh38]
Chr2:29606662 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1282+121G>A |
single nucleotide variant |
not provided [RCV001645584] |
Chr2:29383611 [GRCh38]
Chr2:29606477 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.2793T>C (p.Gly931=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003279175]|Neuroblastoma, susceptibility to, 3 [RCV001471612] |
Chr2:29228906 [GRCh38]
Chr2:29451772 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.164C>A (p.Ala55Glu) |
single nucleotide variant |
Familial isolated pituitary adenoma [RCV000761028] |
Chr2:29920496 [GRCh38]
Chr2:30143362 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2633-3C>T |
single nucleotide variant |
ALK-related condition [RCV003975309]|Familial isolated pituitary adenoma [RCV001775060]|Neuroblastoma, susceptibility to, 3 [RCV000800831] |
Chr2:29229069 [GRCh38]
Chr2:29451935 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.2204+45G>A |
single nucleotide variant |
not provided [RCV001571120] |
Chr2:29251060 [GRCh38]
Chr2:29473926 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1818-193G>A |
single nucleotide variant |
not provided [RCV001569009] |
Chr2:29275689 [GRCh38]
Chr2:29498555 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2682dup (p.Ser895fs) |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV001068050] |
Chr2:29229016..29229017 [GRCh38]
Chr2:29451882..29451883 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3461A>C (p.Glu1154Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002451180]|Neuroblastoma, susceptibility to, 3 [RCV001046256] |
Chr2:29222398 [GRCh38]
Chr2:29445264 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2677G>A (p.Gly893Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001046668] |
Chr2:29229022 [GRCh38]
Chr2:29451888 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.850A>T (p.Arg284Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003160310]|Neuroblastoma, susceptibility to, 3 [RCV001043625] |
Chr2:29694952 [GRCh38]
Chr2:29917818 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4100_4106del (p.Gln1367fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001065663] |
Chr2:29196828..29196834 [GRCh38]
Chr2:29419694..29419700 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2815+74_2815+75insGCCCC |
insertion |
not provided [RCV001691568] |
Chr2:29228809..29228810 [GRCh38]
Chr2:29451675..29451676 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.2041+110T>A |
single nucleotide variant |
not provided [RCV001551921] |
Chr2:29274989 [GRCh38]
Chr2:29497855 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3628G>A (p.Glu1210Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020754] |
Chr2:29220723 [GRCh38]
Chr2:29443589 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2488-165A>G |
single nucleotide variant |
not provided [RCV001583157] |
Chr2:29232613 [GRCh38]
Chr2:29455479 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4073+112del |
deletion |
not provided [RCV001724881] |
Chr2:29197430 [GRCh38]
Chr2:29420296 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.1155-8708C>A |
single nucleotide variant |
not provided [RCV001666684] |
Chr2:29392567 [GRCh38]
Chr2:29615433 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.2079C>T (p.Pro693=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002416149]|Neuroblastoma, susceptibility to, 3 [RCV001414449] |
Chr2:29251230 [GRCh38]
Chr2:29474096 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1827G>A (p.Leu609=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002255564]|Neuroblastoma, susceptibility to, 3 [RCV000876470] |
Chr2:29275487 [GRCh38]
Chr2:29498353 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2632+7C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000951392] |
Chr2:29232297 [GRCh38]
Chr2:29455163 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3348C>A (p.Ile1116=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002319966]|Neuroblastoma, susceptibility to, 3 [RCV000864385] |
Chr2:29223353 [GRCh38]
Chr2:29446219 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2488-7del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001494844] |
Chr2:29232455 [GRCh38]
Chr2:29455321 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.788-7A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001461620] |
Chr2:29695021 [GRCh38]
Chr2:29917887 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3288C>T (p.Tyr1096=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000982345] |
Chr2:29223413 [GRCh38]
Chr2:29446279 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2391G>A (p.Glu797=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002258070]|Neuroblastoma, susceptibility to, 3 [RCV000946088] |
Chr2:29233661 [GRCh38]
Chr2:29456527 [GRCh37]
Chr2:2p23.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004304.5(ALK):c.2844C>T (p.Pro948=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002434110]|Neuroblastoma, susceptibility to, 3 [RCV000870149] |
Chr2:29227644 [GRCh38]
Chr2:29450510 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3126T>C (p.Ser1042=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002320011]|Neuroblastoma, susceptibility to, 3 [RCV000870170] |
Chr2:29225507 [GRCh38]
Chr2:29448373 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3939-5C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021474]|Neuroblastoma, susceptibility to, 3 [RCV000877092] |
Chr2:29197681 [GRCh38]
Chr2:29420547 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.4653G>T (p.Pro1551=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003307598]|Neuroblastoma, susceptibility to, 3 [RCV000864895] |
Chr2:29193434 [GRCh38]
Chr2:29416300 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1584T>C (p.Ala528=) |
single nucleotide variant |
ALK-related condition [RCV003955611]|Hereditary cancer-predisposing syndrome [RCV002399876]|Neuroblastoma, susceptibility to, 3 [RCV000863883] |
Chr2:29318367 [GRCh38]
Chr2:29541233 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2781G>C (p.Gly927=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002434364]|Neuroblastoma, susceptibility to, 3 [RCV001444525] |
Chr2:29228918 [GRCh38]
Chr2:29451784 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.354A>T (p.Ala118=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002336795]|Neuroblastoma, susceptibility to, 3 [RCV000867845] |
Chr2:29920306 [GRCh38]
Chr2:30143172 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1817+10A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000864344] |
Chr2:29296878 [GRCh38]
Chr2:29519744 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2505G>C (p.Pro835=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002453959]|Neuroblastoma, susceptibility to, 3 [RCV001407693] |
Chr2:29232431 [GRCh38]
Chr2:29455297 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4455T>G (p.Pro1485=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002332775]|Neuroblastoma, susceptibility to, 3 [RCV000863446] |
Chr2:29193632 [GRCh38]
Chr2:29416498 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.297C>A (p.Leu99=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003380773]|Neuroblastoma, susceptibility to, 3 [RCV000905361] |
Chr2:29920363 [GRCh38]
Chr2:30143229 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3822C>T (p.Ala1274=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002354778]|Neuroblastoma, susceptibility to, 3 [RCV001417077] |
Chr2:29209800 [GRCh38]
Chr2:29432666 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.768G>A (p.Leu256=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002255578]|Neuroblastoma, susceptibility to, 3 [RCV000923643] |
Chr2:29717597 [GRCh38]
Chr2:29940463 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.4230A>G (p.Lys1410=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002332892]|Neuroblastoma, susceptibility to, 3 [RCV000926302] |
Chr2:29193857 [GRCh38]
Chr2:29416723 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.831C>G (p.Ser277=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002427235]|Neuroblastoma, susceptibility to, 3 [RCV000882129] |
Chr2:29694971 [GRCh38]
Chr2:29917837 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.279G>A (p.Leu93=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003169476]|Neuroblastoma, susceptibility to, 3 [RCV000960357] |
Chr2:29920381 [GRCh38]
Chr2:30143247 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1317C>T (p.Ser439=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002256568]|Neuroblastoma, susceptibility to, 3 [RCV000868399] |
Chr2:29328447 [GRCh38]
Chr2:29551313 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.588G>C (p.Ser196=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003362998]|Neuroblastoma, susceptibility to, 3 [RCV000898790] |
Chr2:29920072 [GRCh38]
Chr2:30142938 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3138C>T (p.Ala1046=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002319968]|Neuroblastoma, susceptibility to, 3 [RCV000864669] |
Chr2:29225495 [GRCh38]
Chr2:29448361 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.398G>A (p.Arg133His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002355053]|Neuroblastoma, susceptibility to, 3 [RCV001058170] |
Chr2:29920262 [GRCh38]
Chr2:30143128 [GRCh37]
Chr2:2p23.1 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.3122C>T (p.Thr1041Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001049149] |
Chr2:29225511 [GRCh38]
Chr2:29448377 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3179G>A (p.Arg1060His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001051346]|not provided [RCV003442174] |
Chr2:29223522 [GRCh38]
Chr2:29446388 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1189G>C (p.Asp397His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001870709] |
Chr2:29383825 [GRCh38]
Chr2:29606691 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1007C>T (p.Pro336Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002427504]|Neuroblastoma, susceptibility to, 3 [RCV001040700]|not provided [RCV003883536] |
Chr2:29532062 [GRCh38]
Chr2:29754928 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4045G>C (p.Asp1349His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002320302]|Neuroblastoma, susceptibility to, 3 [RCV001055086] |
Chr2:29197570 [GRCh38]
Chr2:29420436 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2018A>G (p.Gln673Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001040861] |
Chr2:29275122 [GRCh38]
Chr2:29497988 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.788-5T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001071067] |
Chr2:29695019 [GRCh38]
Chr2:29917885 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.2978A>G (p.Asp993Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002436602]|Neuroblastoma, susceptibility to, 3 [RCV001051460] |
Chr2:29227011 [GRCh38]
Chr2:29449877 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1648-9C>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001051296] |
Chr2:29297066 [GRCh38]
Chr2:29519932 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.3333G>A (p.Val1111=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020015]|Neuroblastoma, susceptibility to, 3 [RCV001493059] |
Chr2:29223368 [GRCh38]
Chr2:29446234 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4132A>G (p.Ile1378Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002327297]|Neuroblastoma, susceptibility to, 3 [RCV001049458] |
Chr2:29196802 [GRCh38]
Chr2:29419668 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.697A>G (p.Met233Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003307877]|Neuroblastoma, susceptibility to, 3 [RCV001055736] |
Chr2:29717668 [GRCh38]
Chr2:29940534 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1286C>T (p.Thr429Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001041447] |
Chr2:29328478 [GRCh38]
Chr2:29551344 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.686C>T (p.Ser229Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001041515] |
Chr2:29717679 [GRCh38]
Chr2:29940545 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4610G>A (p.Gly1537Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001035291] |
Chr2:29193477 [GRCh38]
Chr2:29416343 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3582C>T (p.Ile1194=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020658]|Neuroblastoma, susceptibility to, 3 [RCV001449302] |
Chr2:29220769 [GRCh38]
Chr2:29443635 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4337C>T (p.Thr1446Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001041574] |
Chr2:29193750 [GRCh38]
Chr2:29416616 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3744-6T>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001061734] |
Chr2:29209884 [GRCh38]
Chr2:29432750 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.4636G>A (p.Ala1546Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001061810] |
Chr2:29193451 [GRCh38]
Chr2:29416317 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1645G>A (p.Glu549Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002256670]|Neuroblastoma, susceptibility to, 3 [RCV001056216] |
Chr2:29318306 [GRCh38]
Chr2:29541172 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4038C>T (p.Gly1346=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001041902] |
Chr2:29197577 [GRCh38]
Chr2:29420443 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3634C>T (p.Arg1212Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460131]|Neuroblastoma, susceptibility to, 3 [RCV001058711] |
Chr2:29220717 [GRCh38]
Chr2:29443583 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2732A>G (p.Lys911Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001061942] |
Chr2:29228967 [GRCh38]
Chr2:29451833 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4430A>G (p.Asn1477Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001061951] |
Chr2:29193657 [GRCh38]
Chr2:29416523 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3651G>A (p.Gln1217=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020806]|Neuroblastoma, susceptibility to, 3 [RCV001448350] |
Chr2:29214076 [GRCh38]
Chr2:29436942 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3115G>T (p.Val1039Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002320293]|Neuroblastoma, susceptibility to, 3 [RCV001053494] |
Chr2:29225518 [GRCh38]
Chr2:29448384 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4061G>T (p.Cys1354Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001035515] |
Chr2:29197554 [GRCh38]
Chr2:29420420 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2570A>T (p.His857Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001037897] |
Chr2:29232366 [GRCh38]
Chr2:29455232 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3680T>C (p.Leu1227Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002454298]|Neuroblastoma, susceptibility to, 3 [RCV001042299] |
Chr2:29214047 [GRCh38]
Chr2:29436913 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3663G>A (p.Leu1221=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002454274]|Neuroblastoma, susceptibility to, 3 [RCV001037935] |
Chr2:29214064 [GRCh38]
Chr2:29436930 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NC_000002.12:g.(?_29717568)_(29717707_?)del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001033840] |
Chr2:29940434..29940573 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2417G>T (p.Arg806Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001071965] |
Chr2:29233635 [GRCh38]
Chr2:29456501 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2458G>A (p.Gly820Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001036023] |
Chr2:29233594 [GRCh38]
Chr2:29456460 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1492A>T (p.Thr498Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001037573] |
Chr2:29320805 [GRCh38]
Chr2:29543671 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4770C>T (p.Gly1590=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002337099]|Neuroblastoma, susceptibility to, 3 [RCV001037620] |
Chr2:29193317 [GRCh38]
Chr2:29416183 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.1976A>G (p.Asn659Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002418554]|Neuroblastoma, susceptibility to, 3 [RCV001068864] |
Chr2:29275164 [GRCh38]
Chr2:29498030 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2857G>A (p.Glu953Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001039628] |
Chr2:29227631 [GRCh38]
Chr2:29450497 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2816-2A>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001060111] |
Chr2:29227674 [GRCh38]
Chr2:29450540 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.224C>T (p.Pro75Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001050502] |
Chr2:29920436 [GRCh38]
Chr2:30143302 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2836_2838del (p.Asn946del) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001038269] |
Chr2:29227650..29227652 [GRCh38]
Chr2:29450516..29450518 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.376G>A (p.Val126Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001039918] |
Chr2:29920284 [GRCh38]
Chr2:30143150 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.334G>A (p.Ala112Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003307893]|Neuroblastoma, susceptibility to, 3 [RCV001060566] |
Chr2:29920326 [GRCh38]
Chr2:30143192 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4426G>A (p.Val1476Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001050663] |
Chr2:29193661 [GRCh38]
Chr2:29416527 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3890C>T (p.Pro1297Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001054244] |
Chr2:29207219 [GRCh38]
Chr2:29430085 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3082del (p.Glu1028fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001054330] |
Chr2:29225551 [GRCh38]
Chr2:29448417 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3938+1G>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001052614] |
Chr2:29207170 [GRCh38]
Chr2:29430036 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4396C>T (p.Pro1466Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001052615] |
Chr2:29193691 [GRCh38]
Chr2:29416557 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1675G>A (p.Val559Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001060909] |
Chr2:29297030 [GRCh38]
Chr2:29519896 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1219A>C (p.Ile407Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002363090]|Neuroblastoma, susceptibility to, 3 [RCV000810248] |
Chr2:29383795 [GRCh38]
Chr2:29606661 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.3938G>A (p.Trp1313Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000810265]|not provided [RCV003229865] |
Chr2:29207171 [GRCh38]
Chr2:29430037 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4241G>T (p.Arg1414Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002332593]|Neuroblastoma, susceptibility to, 3 [RCV000793847] |
Chr2:29193846 [GRCh38]
Chr2:29416712 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3625C>T (p.Arg1209Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020753]|Neuroblastoma, susceptibility to, 3 [RCV000807103] |
Chr2:29220726 [GRCh38]
Chr2:29443592 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2567T>C (p.Phe856Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000808971] |
Chr2:29232369 [GRCh38]
Chr2:29455235 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1447G>C (p.Glu483Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002390612]|Neuroblastoma, susceptibility to, 3 [RCV000806750] |
Chr2:29320850 [GRCh38]
Chr2:29543716 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.4362G>A (p.Lys1454=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000872690] |
Chr2:29193725 [GRCh38]
Chr2:29416591 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3054C>T (p.Gly1018=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002442804]|Neuroblastoma, susceptibility to, 3 [RCV000863929] |
Chr2:29226935 [GRCh38]
Chr2:29449801 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3480C>T (p.Asp1160=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020402]|Neuroblastoma, susceptibility to, 3 [RCV000951426] |
Chr2:29222379 [GRCh38]
Chr2:29445245 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.783A>T (p.Arg261=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002409099]|Neuroblastoma, susceptibility to, 3 [RCV001479972] |
Chr2:29717582 [GRCh38]
Chr2:29940448 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3018C>T (p.Cys1006=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002434282]|Neuroblastoma, susceptibility to, 3 [RCV000940140] |
Chr2:29226971 [GRCh38]
Chr2:29449837 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.477G>A (p.Gly159=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003307651]|Neuroblastoma, susceptibility to, 3 [RCV001429126] |
Chr2:29920183 [GRCh38]
Chr2:30143049 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3098T>A (p.Leu1033His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002320053]|Multiple endocrine neoplasia, type 2a [RCV003233034]|Neuroblastoma, susceptibility to, 3 [RCV000876683] |
Chr2:29225535 [GRCh38]
Chr2:29448401 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.312G>A (p.Pro104=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018750]|Neuroblastoma, susceptibility to, 3 [RCV000936584] |
Chr2:29920348 [GRCh38]
Chr2:30143214 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.939G>A (p.Lys313=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002372683]|Neuroblastoma, susceptibility to, 3 [RCV001395005] |
Chr2:29694863 [GRCh38]
Chr2:29917729 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3159C>T (p.Ser1053=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002320021]|Neuroblastoma, susceptibility to, 3 [RCV000871204] |
Chr2:29225474 [GRCh38]
Chr2:29448340 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3600G>T (p.Ala1200=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002454010]|Neuroblastoma, susceptibility to, 3 [RCV001393068] |
Chr2:29220751 [GRCh38]
Chr2:29443617 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4194G>A (p.Pro1398=) |
single nucleotide variant |
ALK-related condition [RCV003892804]|Neuroblastoma, susceptibility to, 3 [RCV000864429] |
Chr2:29193893 [GRCh38]
Chr2:29416759 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1803C>T (p.Leu601=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002409115]|Neuroblastoma, susceptibility to, 3 [RCV000876773] |
Chr2:29296902 [GRCh38]
Chr2:29519768 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1167C>T (p.Leu389=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002332814]|Neuroblastoma, susceptibility to, 3 [RCV001407715] |
Chr2:29383847 [GRCh38]
Chr2:29606713 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3369C>T (p.Gly1123=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002454175]|Neuroblastoma, susceptibility to, 3 [RCV000945926] |
Chr2:29222598 [GRCh38]
Chr2:29445464 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.766C>T (p.Leu256=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002390802]|Neuroblastoma, susceptibility to, 3 [RCV000869008] |
Chr2:29717599 [GRCh38]
Chr2:29940465 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2022C>T (p.Thr674=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000939305] |
Chr2:29275118 [GRCh38]
Chr2:29497984 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1415-5C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000865184] |
Chr2:29320887 [GRCh38]
Chr2:29543753 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.483G>C (p.Ala161=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002336766]|Neuroblastoma, susceptibility to, 3 [RCV000864116] |
Chr2:29920177 [GRCh38]
Chr2:30143043 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4815G>A (p.Glu1605=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001474635] |
Chr2:29193272 [GRCh38]
Chr2:29416138 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4335T>A (p.Pro1445=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001457343] |
Chr2:29193752 [GRCh38]
Chr2:29416618 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1809G>T (p.Val603=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001462648] |
Chr2:29296896 [GRCh38]
Chr2:29519762 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1593T>C (p.Ser531=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002399880]|Neuroblastoma, susceptibility to, 3 [RCV000864446] |
Chr2:29318358 [GRCh38]
Chr2:29541224 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1547-5C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000868367] |
Chr2:29318409 [GRCh38]
Chr2:29541275 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.3096A>T (p.Pro1032=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002320025]|Neuroblastoma, susceptibility to, 3 [RCV000871855] |
Chr2:29225537 [GRCh38]
Chr2:29448403 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.684A>G (p.Glu228=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002363283]|Neuroblastoma, susceptibility to, 3 [RCV000873439] |
Chr2:29717681 [GRCh38]
Chr2:29940547 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1626G>A (p.Pro542=) |
single nucleotide variant |
ALK-related condition [RCV003895341]|Hereditary cancer-predisposing syndrome [RCV002399944]|Neuroblastoma, susceptibility to, 3 [RCV000873448] |
Chr2:29318325 [GRCh38]
Chr2:29541191 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.210C>T (p.Asp70=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001414382] |
Chr2:29920450 [GRCh38]
Chr2:30143316 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4659C>A (p.Ala1553=) |
single nucleotide variant |
ALK-related condition [RCV003983232]|Hereditary cancer-predisposing syndrome [RCV002332833]|Neuroblastoma, susceptibility to, 3 [RCV000873482] |
Chr2:29193428 [GRCh38]
Chr2:29416294 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2322G>C (p.Leu774=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002445083]|Neuroblastoma, susceptibility to, 3 [RCV001432833] |
Chr2:29239713 [GRCh38]
Chr2:29462579 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.342A>G (p.Ser114=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003363025]|Neuroblastoma, susceptibility to, 3 [RCV001394531] |
Chr2:29920318 [GRCh38]
Chr2:30143184 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.111G>A (p.Pro37=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002434091]|Neuroblastoma, susceptibility to, 3 [RCV000866554] |
Chr2:29920549 [GRCh38]
Chr2:30143415 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4771T>C (p.Leu1591=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002258015]|Neuroblastoma, susceptibility to, 3 [RCV000869217] |
Chr2:29193316 [GRCh38]
Chr2:29416182 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4506G>A (p.Leu1502=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002336831]|Neuroblastoma, susceptibility to, 3 [RCV000872285] |
Chr2:29193581 [GRCh38]
Chr2:29416447 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.474C>T (p.Pro158=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003353081]|Neuroblastoma, susceptibility to, 3 [RCV001423834] |
Chr2:29920186 [GRCh38]
Chr2:30143052 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3111C>T (p.Leu1037=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000980155] |
Chr2:29225522 [GRCh38]
Chr2:29448388 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4134C>T (p.Ile1378=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002332844]|Neuroblastoma, susceptibility to, 3 [RCV000875995] |
Chr2:29196800 [GRCh38]
Chr2:29419666 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4533T>C (p.Phe1511=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001426998] |
Chr2:29193554 [GRCh38]
Chr2:29416420 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3093G>C (p.Leu1031=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001467230] |
Chr2:29225540 [GRCh38]
Chr2:29448406 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4185C>G (p.Thr1395=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001442702] |
Chr2:29193902 [GRCh38]
Chr2:29416768 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1719C>A (p.Thr573=) |
single nucleotide variant |
not provided [RCV000978375] |
Chr2:29296986 [GRCh38]
Chr2:29519852 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.735C>T (p.Leu245=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002382081]|Neuroblastoma, susceptibility to, 3 [RCV000917465] |
Chr2:29717630 [GRCh38]
Chr2:29940496 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3555G>A (p.Val1185=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020596]|Neuroblastoma, susceptibility to, 3 [RCV001467064] |
Chr2:29220796 [GRCh38]
Chr2:29443662 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1572T>C (p.Thr524=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001446635] |
Chr2:29318379 [GRCh38]
Chr2:29541245 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2241G>A (p.Gly747=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001498434] |
Chr2:29239794 [GRCh38]
Chr2:29462660 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3331G>T (p.Val1111Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020010]|Neuroblastoma, susceptibility to, 3 [RCV001039956] |
Chr2:29223370 [GRCh38]
Chr2:29446236 [GRCh37]
Chr2:2p23.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004304.5(ALK):c.3515+53C>G |
single nucleotide variant |
not provided [RCV000837309] |
Chr2:29222291 [GRCh38]
Chr2:29445157 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.1701G>C (p.Val567=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002400065]|Neuroblastoma, susceptibility to, 3 [RCV000938096] |
Chr2:29297004 [GRCh38]
Chr2:29519870 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2503C>T (p.Pro835Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002453826]|Neuroblastoma, susceptibility to, 3 [RCV000809542] |
Chr2:29232433 [GRCh38]
Chr2:29455299 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1852G>A (p.Gly618Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000809181] |
Chr2:29275462 [GRCh38]
Chr2:29498328 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.347_357del (p.Ala116fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV000793537] |
Chr2:29920303..29920313 [GRCh38]
Chr2:30143169..30143179 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.946C>A (p.Pro316Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002370115]|Neuroblastoma, susceptibility to, 3 [RCV000800887] |
Chr2:29694856 [GRCh38]
Chr2:29917722 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3515+97G>A |
single nucleotide variant |
not provided [RCV000837406] |
Chr2:29222247 [GRCh38]
Chr2:29445113 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.1024A>C (p.Ser342Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000822596] |
Chr2:29532045 [GRCh38]
Chr2:29754911 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3513C>G (p.Ile1171Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003166101]|Neuroblastoma, susceptibility to, 3 [RCV000793070] |
Chr2:29222346 [GRCh38]
Chr2:29445212 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2836A>G (p.Asn946Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002440643]|Neuroblastoma, susceptibility to, 3 [RCV000796672] |
Chr2:29227652 [GRCh38]
Chr2:29450518 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2459G>A (p.Gly820Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000799288] |
Chr2:29233593 [GRCh38]
Chr2:29456459 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.101C>T (p.Ala34Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002363130]|Neuroblastoma, susceptibility to, 3 [RCV000815730] |
Chr2:29920559 [GRCh38]
Chr2:30143425 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2754A>T (p.Arg918Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002433994]|Neuroblastoma, susceptibility to, 3 [RCV000817406] |
Chr2:29228945 [GRCh38]
Chr2:29451811 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1154+1G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000802724]|not provided [RCV003317373] |
Chr2:29531914 [GRCh38]
Chr2:29754780 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2126A>G (p.Asn709Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000823063] |
Chr2:29251183 [GRCh38]
Chr2:29474049 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.46A>C (p.Thr16Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000793601] |
Chr2:29920614 [GRCh38]
Chr2:30143480 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4287G>A (p.Gln1429=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000797765] |
Chr2:29193800 [GRCh38]
Chr2:29416666 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2519T>C (p.Ile840Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002427014]|Neuroblastoma, susceptibility to, 3 [RCV000815838] |
Chr2:29232417 [GRCh38]
Chr2:29455283 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3460G>A (p.Glu1154Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003380749]|Neuroblastoma, susceptibility to, 3 [RCV000817475] |
Chr2:29222399 [GRCh38]
Chr2:29445265 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.355G>A (p.Glu119Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000819267]|not provided [RCV003235411] |
Chr2:29920305 [GRCh38]
Chr2:30143171 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| GRCh37/hg19 2p23.2(chr2:29428149-29486280)x1 |
copy number loss |
not provided [RCV001005239] |
Chr2:29428149..29486280 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.627C>T (p.Arg209=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002363476]|Neuroblastoma, susceptibility to, 3 [RCV001484208] |
Chr2:29920033 [GRCh38]
Chr2:30142899 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.2073C>G (p.Ser691Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000797007]|not provided [RCV003325519]|not specified [RCV002249511] |
Chr2:29251236 [GRCh38]
Chr2:29474102 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1915A>G (p.Ser639Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003362945]|Neuroblastoma, susceptibility to, 3 [RCV000797015] |
Chr2:29275225 [GRCh38]
Chr2:29498091 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2950T>C (p.Tyr984His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002440666]|Neuroblastoma, susceptibility to, 3 [RCV000799521] |
Chr2:29227039 [GRCh38]
Chr2:29449905 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4379A>G (p.Glu1460Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002332627]|Neuroblastoma, susceptibility to, 3 [RCV000801163] |
Chr2:29193708 [GRCh38]
Chr2:29416574 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1008G>A (p.Pro336=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002442844]|Neuroblastoma, susceptibility to, 3 [RCV000869512] |
Chr2:29532061 [GRCh38]
Chr2:29754927 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1757C>A (p.Ala586Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000810215] |
Chr2:29296948 [GRCh38]
Chr2:29519814 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.819G>T (p.Glu273Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002424849]|Neuroblastoma, susceptibility to, 3 [RCV000801283] |
Chr2:29694983 [GRCh38]
Chr2:29917849 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.3250C>T (p.Arg1084Cys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000803043] |
Chr2:29223451 [GRCh38]
Chr2:29446317 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4474G>A (p.Val1492Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002332612]|Neuroblastoma, susceptibility to, 3 [RCV000798584] |
Chr2:29193613 [GRCh38]
Chr2:29416479 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4012G>T (p.Val1338Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021660]|Neuroblastoma, susceptibility to, 3 [RCV000798662] |
Chr2:29197603 [GRCh38]
Chr2:29420469 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.386G>C (p.Gly129Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000817798] |
Chr2:29920274 [GRCh38]
Chr2:30143140 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.394G>T (p.Val132Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000803136] |
Chr2:29920266 [GRCh38]
Chr2:30143132 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3076A>C (p.Thr1026Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000803164] |
Chr2:29225557 [GRCh38]
Chr2:29448423 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2177G>A (p.Trp726Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000807228] |
Chr2:29251132 [GRCh38]
Chr2:29473998 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2059A>G (p.Thr687Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002422720]|Neuroblastoma, susceptibility to, 3 [RCV000797712] |
Chr2:29251250 [GRCh38]
Chr2:29474116 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3076A>G (p.Thr1026Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002319588]|Neuroblastoma, susceptibility to, 3 [RCV000814225] |
Chr2:29225557 [GRCh38]
Chr2:29448423 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4164+163T>C |
single nucleotide variant |
not provided [RCV000836273] |
Chr2:29196607 [GRCh38]
Chr2:29419473 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.1817+8C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000819713] |
Chr2:29296880 [GRCh38]
Chr2:29519746 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.3701C>T (p.Ala1234Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020926]|Neuroblastoma, susceptibility to, 3 [RCV000824023] |
Chr2:29214026 [GRCh38]
Chr2:29436892 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.540A>C (p.Gln180His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000818059] |
Chr2:29920120 [GRCh38]
Chr2:30142986 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4073+93G>A |
single nucleotide variant |
not provided [RCV000836352] |
Chr2:29197449 [GRCh38]
Chr2:29420315 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.953-21G>A |
single nucleotide variant |
not provided [RCV000836397] |
Chr2:29532137 [GRCh38]
Chr2:29755003 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2704G>A (p.Gly902Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000819781] |
Chr2:29228995 [GRCh38]
Chr2:29451861 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3842G>A (p.Ser1281Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002363166]|Neuroblastoma, susceptibility to, 3 [RCV000821604]|not provided [RCV003225131] |
Chr2:29207267 [GRCh38]
Chr2:29430133 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.4632C>A (p.Asn1544Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000824360]|not provided [RCV002508270] |
Chr2:29193455 [GRCh38]
Chr2:29416321 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.185C>T (p.Ser62Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000795112] |
Chr2:29920475 [GRCh38]
Chr2:30143341 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.122G>A (p.Arg41Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002370082]|Neuroblastoma, susceptibility to, 3 [RCV000795146] |
Chr2:29920538 [GRCh38]
Chr2:30143404 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4270C>G (p.Leu1424Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002332579]|Neuroblastoma, susceptibility to, 3 [RCV000791626] |
Chr2:29193817 [GRCh38]
Chr2:29416683 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.310C>G (p.Pro104Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000814537] |
Chr2:29920350 [GRCh38]
Chr2:30143216 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.202G>C (p.Ala68Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000819982] |
Chr2:29920458 [GRCh38]
Chr2:30143324 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4442C>G (p.Ser1481Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002332725]|Neuroblastoma, susceptibility to, 3 [RCV000824651] |
Chr2:29193645 [GRCh38]
Chr2:29416511 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1614G>A (p.Thr538=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002390818]|Neuroblastoma, susceptibility to, 3 [RCV000871031]|not provided [RCV003413693] |
Chr2:29318337 [GRCh38]
Chr2:29541203 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4516A>T (p.Thr1506Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000811723] |
Chr2:29193571 [GRCh38]
Chr2:29416437 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2988dup (p.Met997fs) |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV000807318] |
Chr2:29227000..29227001 [GRCh38]
Chr2:29449866..29449867 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.79C>G (p.Gln27Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002422785]|Neuroblastoma, susceptibility to, 3 [RCV000810935] |
Chr2:29920581 [GRCh38]
Chr2:30143447 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.502T>C (p.Phe168Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003307547]|Neuroblastoma, susceptibility to, 3 [RCV000819991] |
Chr2:29920158 [GRCh38]
Chr2:30143024 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3884G>A (p.Trp1295Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002360909]|Neuroblastoma, susceptibility to, 3 [RCV000791894] |
Chr2:29207225 [GRCh38]
Chr2:29430091 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2040A>G (p.Thr680=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003166299]|Neuroblastoma, susceptibility to, 3 [RCV000811153] |
Chr2:29275100 [GRCh38]
Chr2:29497966 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.931C>A (p.Arg311Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000798675] |
Chr2:29694871 [GRCh38]
Chr2:29917737 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4214T>C (p.Val1405Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002332686]|Neuroblastoma, susceptibility to, 3 [RCV000816757] |
Chr2:29193873 [GRCh38]
Chr2:29416739 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.292C>T (p.Leu98=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002434337]|Neuroblastoma, susceptibility to, 3 [RCV001495833] |
Chr2:29920368 [GRCh38]
Chr2:30143234 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3781G>A (p.Gly1261Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000811560] |
Chr2:29209841 [GRCh38]
Chr2:29432707 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3685G>T (p.Val1229Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020877]|Neuroblastoma, susceptibility to, 3 [RCV000802053] |
Chr2:29214042 [GRCh38]
Chr2:29436908 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4685T>G (p.Leu1562Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002336613]|Neuroblastoma, susceptibility to, 3 [RCV000802062]|not provided [RCV003128706] |
Chr2:29193402 [GRCh38]
Chr2:29416268 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4017G>A (p.Leu1339=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001412704] |
Chr2:29197598 [GRCh38]
Chr2:29420464 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.886G>C (p.Glu296Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000812790] |
Chr2:29694916 [GRCh38]
Chr2:29917782 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NC_000002.11:g.(?_29754771)_(29754992_?)dup |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV000808650] |
Chr2:29531905..29532126 [GRCh38]
Chr2:29754771..29754992 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3359+80T>C |
single nucleotide variant |
not provided [RCV000837116] |
Chr2:29223262 [GRCh38]
Chr2:29446128 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.4698G>A (p.Met1566Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003166253]|Neuroblastoma, susceptibility to, 3 [RCV000805783] |
Chr2:29193389 [GRCh38]
Chr2:29416255 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3816G>A (p.Gly1272=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002352578]|Neuroblastoma, susceptibility to, 3 [RCV000871177] |
Chr2:29209806 [GRCh38]
Chr2:29432672 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1043C>A (p.Ala348Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000813127]|not provided [RCV003324798] |
Chr2:29532026 [GRCh38]
Chr2:29754892 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1817+6C>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000813140] |
Chr2:29296882 [GRCh38]
Chr2:29519748 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1804G>A (p.Asp602Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000792899] |
Chr2:29296901 [GRCh38]
Chr2:29519767 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.611T>C (p.Leu204Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002352417]|Neuroblastoma, susceptibility to, 3 [RCV000812514] |
Chr2:29920049 [GRCh38]
Chr2:30142915 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.932G>C (p.Arg311Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000799092] |
Chr2:29694870 [GRCh38]
Chr2:29917736 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1379A>G (p.Asp460Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003166173]|Neuroblastoma, susceptibility to, 3 [RCV000799116] |
Chr2:29328385 [GRCh38]
Chr2:29551251 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2973G>A (p.Glu991=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002434111]|Neuroblastoma, susceptibility to, 3 [RCV000870201] |
Chr2:29227016 [GRCh38]
Chr2:29449882 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1329T>C (p.Cys443=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001449254] |
Chr2:29328435 [GRCh38]
Chr2:29551301 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4627C>A (p.Pro1543Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000796974] |
Chr2:29193460 [GRCh38]
Chr2:29416326 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NC_000002.11:g.(?_29541160)_(29606735_?)dup |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV000806575] |
Chr2:29318294..29383869 [GRCh38]
Chr2:29541160..29606735 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4000A>T (p.Ser1334Cys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000815520] |
Chr2:29197615 [GRCh38]
Chr2:29420481 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1049C>T (p.Ser350Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000809518] |
Chr2:29532020 [GRCh38]
Chr2:29754886 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2786C>T (p.Ser929Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002257955]|Neuroblastoma, susceptibility to, 3 [RCV000793122] |
Chr2:29228913 [GRCh38]
Chr2:29451779 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3067+3A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000799341] |
Chr2:29226919 [GRCh38]
Chr2:29449785 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4537G>C (p.Glu1513Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000803128] |
Chr2:29193550 [GRCh38]
Chr2:29416416 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4307G>A (p.Arg1436His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002259028]|Neuroblastoma, susceptibility to, 3 [RCV000816029] |
Chr2:29193780 [GRCh38]
Chr2:29416646 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.4198G>C (p.Glu1400Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000809936] |
Chr2:29193889 [GRCh38]
Chr2:29416755 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1794G>T (p.Leu598Phe) |
single nucleotide variant |
ALK-related condition [RCV003413653]|Neuroblastoma, susceptibility to, 3 [RCV000820026] |
Chr2:29296911 [GRCh38]
Chr2:29519777 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1662G>A (p.Trp554Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000820091] |
Chr2:29297043 [GRCh38]
Chr2:29519909 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.646C>G (p.Leu216Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000803711] |
Chr2:29920014 [GRCh38]
Chr2:30142880 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.344C>T (p.Pro115Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002453856]|Neuroblastoma, susceptibility to, 3 [RCV000816390] |
Chr2:29920316 [GRCh38]
Chr2:30143182 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.472C>T (p.Pro158Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000822693] |
Chr2:29920188 [GRCh38]
Chr2:30143054 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2374A>G (p.Lys792Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003353047]|Neuroblastoma, susceptibility to, 3 [RCV000813011] |
Chr2:29233678 [GRCh38]
Chr2:29456544 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.394G>A (p.Val132Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003380743]|Neuroblastoma, susceptibility to, 3 [RCV000813048] |
Chr2:29920266 [GRCh38]
Chr2:30143132 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2474C>T (p.Thr825Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000813049] |
Chr2:29233578 [GRCh38]
Chr2:29456444 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2886G>A (p.Leu962=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000816488] |
Chr2:29227602 [GRCh38]
Chr2:29450468 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3644C>A (p.Pro1215Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020786]|Neuroblastoma, susceptibility to, 3 [RCV000800153] |
Chr2:29220707 [GRCh38]
Chr2:29443573 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4261G>A (p.Val1421Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000800539] |
Chr2:29193826 [GRCh38]
Chr2:29416692 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.871C>A (p.Arg291Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000817042] |
Chr2:29694931 [GRCh38]
Chr2:29917797 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3134T>C (p.Val1045Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000822822] |
Chr2:29225499 [GRCh38]
Chr2:29448365 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4406C>T (p.Pro1469Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002332717]|Neuroblastoma, susceptibility to, 3 [RCV000823027]|not provided [RCV003169046] |
Chr2:29193681 [GRCh38]
Chr2:29416547 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4459T>C (p.Ser1487Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002332637]|Neuroblastoma, susceptibility to, 3 [RCV000804122] |
Chr2:29193628 [GRCh38]
Chr2:29416494 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2771G>A (p.Gly924Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000813773] |
Chr2:29228928 [GRCh38]
Chr2:29451794 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2914+4G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000807454] |
Chr2:29227570 [GRCh38]
Chr2:29450436 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3360-1G>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000820884] |
Chr2:29222608 [GRCh38]
Chr2:29445474 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.709_711del (p.Ser237del) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV000820965] |
Chr2:29717654..29717656 [GRCh38]
Chr2:29940520..29940522 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2999A>G (p.Glu1000Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002434024]|Neuroblastoma, susceptibility to, 3 [RCV000823488] |
Chr2:29226990 [GRCh38]
Chr2:29449856 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1729C>G (p.Gln577Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000807721] |
Chr2:29296976 [GRCh38]
Chr2:29519842 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1647+66G>A |
single nucleotide variant |
not provided [RCV000836271] |
Chr2:29318238 [GRCh38]
Chr2:29541104 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.3744-32A>G |
single nucleotide variant |
not provided [RCV000836272] |
Chr2:29209910 [GRCh38]
Chr2:29432776 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.325T>C (p.Ser109Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003169019]|Neuroblastoma, susceptibility to, 3 [RCV000821084] |
Chr2:29920335 [GRCh38]
Chr2:30143201 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3574C>A (p.Arg1192=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000823854] |
Chr2:29220777 [GRCh38]
Chr2:29443643 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.4565T>G (p.Ile1522Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002336610]|Neuroblastoma, susceptibility to, 3 [RCV000801611] |
Chr2:29193522 [GRCh38]
Chr2:29416388 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1282G>A (p.Gly428Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000818096] |
Chr2:29383732 [GRCh38]
Chr2:29606598 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2513del (p.Leu838fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV000804869] |
Chr2:29232423 [GRCh38]
Chr2:29455289 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1202G>A (p.Arg401Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000821301] |
Chr2:29383812 [GRCh38]
Chr2:29606678 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3835A>C (p.Arg1279=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000821302] |
Chr2:29209787 [GRCh38]
Chr2:29432653 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3549T>G (p.Ile1183Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000804963] |
Chr2:29220802 [GRCh38]
Chr2:29443668 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3460G>C (p.Glu1154Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003380741]|Neuroblastoma, susceptibility to, 3 [RCV000810531] |
Chr2:29222399 [GRCh38]
Chr2:29445265 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4427T>C (p.Val1476Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000814494] |
Chr2:29193660 [GRCh38]
Chr2:29416526 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2579G>A (p.Arg860Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000794358] |
Chr2:29232357 [GRCh38]
Chr2:29455223 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NC_000002.11:g.(?_30142849)_(30143535_?)dup |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV000799417] |
Chr2:29919983..29920669 [GRCh38]
Chr2:30142849..30143535 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| GRCh37/hg19 2p23.2-22.2(chr2:29940473-36813297)x1 |
copy number loss |
not provided [RCV000848001] |
Chr2:29940473..36813297 [GRCh37]
Chr2:2p23.2-22.2 |
pathogenic |
| NM_004304.5(ALK):c.3605dup (p.Asp1203fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV001020702]|Neuroblastoma, susceptibility to, 3 [RCV000809242] |
Chr2:29220745..29220746 [GRCh38]
Chr2:29443611..29443612 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1045G>A (p.Val349Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000795099]|not provided [RCV002281132] |
Chr2:29532024 [GRCh38]
Chr2:29754890 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1306G>A (p.Ala436Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001137221] |
Chr2:29328458 [GRCh38]
Chr2:29551324 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3699T>G (p.Ile1233Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020909]|Neuroblastoma, susceptibility to, 3 [RCV001364847] |
Chr2:29214028 [GRCh38]
Chr2:29436894 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3104T>G (p.Leu1035Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003166310]|Neuroblastoma, susceptibility to, 3 [RCV000811701] |
Chr2:29225529 [GRCh38]
Chr2:29448395 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.443A>C (p.Glu148Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003380713]|Neuroblastoma, susceptibility to, 3 [RCV000793610] |
Chr2:29920217 [GRCh38]
Chr2:30143083 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.61T>C (p.Ser21Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001067174] |
Chr2:29920599 [GRCh38]
Chr2:30143465 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4367C>T (p.Pro1456Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001046378] |
Chr2:29193720 [GRCh38]
Chr2:29416586 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2164G>C (p.Gly722Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000794286] |
Chr2:29251145 [GRCh38]
Chr2:29474011 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2354G>A (p.Ser785Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002442719]|Neuroblastoma, susceptibility to, 3 [RCV000812150] |
Chr2:29239681 [GRCh38]
Chr2:29462547 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3949G>A (p.Val1317Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001068210] |
Chr2:29197666 [GRCh38]
Chr2:29420532 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.139T>G (p.Ser47Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001137337] |
Chr2:29920521 [GRCh38]
Chr2:30143387 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1580C>G (p.Pro527Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000807041] |
Chr2:29318371 [GRCh38]
Chr2:29541237 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1247C>T (p.Ala416Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000807743] |
Chr2:29383767 [GRCh38]
Chr2:29606633 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.744A>G (p.Ile248Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000791552] |
Chr2:29717621 [GRCh38]
Chr2:29940487 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3938+5dup |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV000791865] |
Chr2:29207165..29207166 [GRCh38]
Chr2:29430031..29430032 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NC_000002.12:g.(?_29196760)_(29717707_?)del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV000795433] |
Chr2:29196760..29717707 [GRCh38]
Chr2:29419626..29940573 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1837G>A (p.Ala613Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000811023]|Ovarian cancer [RCV003153851] |
Chr2:29275477 [GRCh38]
Chr2:29498343 [GRCh37]
Chr2:2p23.2 |
benign|uncertain significance |
| NM_004304.5(ALK):c.4769G>T (p.Gly1590Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000811196] |
Chr2:29193318 [GRCh38]
Chr2:29416184 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1866C>T (p.Ile622=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002409176]|Neuroblastoma, susceptibility to, 3 [RCV000919700] |
Chr2:29275448 [GRCh38]
Chr2:29498314 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3019T>G (p.Phe1007Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003166208]|Neuroblastoma, susceptibility to, 3 [RCV000801463] |
Chr2:29226970 [GRCh38]
Chr2:29449836 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1546+103G>A |
single nucleotide variant |
not provided [RCV000836305] |
Chr2:29320648 [GRCh38]
Chr2:29543514 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.3646-235A>G |
single nucleotide variant |
not provided [RCV000836306] |
Chr2:29214316 [GRCh38]
Chr2:29437182 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.3743+217C>A |
single nucleotide variant |
not provided [RCV000836307] |
Chr2:29213767 [GRCh38]
Chr2:29436633 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.4164+45C>A |
single nucleotide variant |
not provided [RCV000836308] |
Chr2:29196725 [GRCh38]
Chr2:29419591 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.952+192C>A |
single nucleotide variant |
not provided [RCV000836329] |
Chr2:29694658 [GRCh38]
Chr2:29917524 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.3646-148A>G |
single nucleotide variant |
not provided [RCV000836339] |
Chr2:29214229 [GRCh38]
Chr2:29437095 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3043G>T (p.Ala1015Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000806607] |
Chr2:29226946 [GRCh38]
Chr2:29449812 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.118C>G (p.Pro40Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000812357] |
Chr2:29920542 [GRCh38]
Chr2:30143408 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1647+178A>G |
single nucleotide variant |
not provided [RCV000836372] |
Chr2:29318126 [GRCh38]
Chr2:29540992 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.1817+123G>A |
single nucleotide variant |
not provided [RCV000836373] |
Chr2:29296765 [GRCh38]
Chr2:29519631 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.673A>G (p.Ser225Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003169024]|Neuroblastoma, susceptibility to, 3 [RCV000821528] |
Chr2:29717692 [GRCh38]
Chr2:29940558 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.787+6T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000795984] |
Chr2:29717572 [GRCh38]
Chr2:29940438 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1155-1G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000818451] |
Chr2:29383860 [GRCh38]
Chr2:29606726 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2723A>G (p.Gln908Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003307480]|Neuroblastoma, susceptibility to, 3 [RCV000805273] |
Chr2:29228976 [GRCh38]
Chr2:29451842 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1948C>A (p.Pro650Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002256504]|Neuroblastoma, susceptibility to, 3 [RCV000794064] |
Chr2:29275192 [GRCh38]
Chr2:29498058 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3133_3147del (p.Val1045_Val1049del) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV000802265] |
Chr2:29225486..29225500 [GRCh38]
Chr2:29448352..29448366 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2498G>A (p.Gly833Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002424912]|Neuroblastoma, susceptibility to, 3 [RCV000812760] |
Chr2:29232438 [GRCh38]
Chr2:29455304 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.249C>T (p.Gly83=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000796370] |
Chr2:29920411 [GRCh38]
Chr2:30143277 [GRCh37]
Chr2:2p23.1 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.925dup (p.Ala309fs) |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV000815666] |
Chr2:29694876..29694877 [GRCh38]
Chr2:29917742..29917743 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3267G>A (p.Met1089Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000799322] |
Chr2:29223434 [GRCh38]
Chr2:29446300 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3067+6G>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000815810] |
Chr2:29226916 [GRCh38]
Chr2:29449782 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3667A>T (p.Met1223Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000802629] |
Chr2:29214060 [GRCh38]
Chr2:29436926 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.119C>T (p.Pro40Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000822561]|not provided [RCV003320760] |
Chr2:29920541 [GRCh38]
Chr2:30143407 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3459T>A (p.Pro1153=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002453921]|Neuroblastoma, susceptibility to, 3 [RCV001088376]|not provided [RCV000841457] |
Chr2:29222400 [GRCh38]
Chr2:29445266 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4470C>T (p.His1490=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001497180] |
Chr2:29193617 [GRCh38]
Chr2:29416483 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.131T>G (p.Leu44Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002386373]|Neuroblastoma, susceptibility to, 3 [RCV000791984]|not provided [RCV001776001] |
Chr2:29920529 [GRCh38]
Chr2:30143395 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3118G>T (p.Val1040Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000794684] |
Chr2:29225515 [GRCh38]
Chr2:29448381 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4211T>C (p.Leu1404Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000799861]|not provided [RCV003442083] |
Chr2:29193876 [GRCh38]
Chr2:29416742 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.94C>G (p.Pro32Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000819579]|not provided [RCV003489911] |
Chr2:29920566 [GRCh38]
Chr2:30143432 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3548T>C (p.Ile1183Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020573]|Neuroblastoma, susceptibility to, 3 [RCV000796826]|not provided [RCV003317370] |
Chr2:29220803 [GRCh38]
Chr2:29443669 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1391G>T (p.Gly464Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000813292] |
Chr2:29328373 [GRCh38]
Chr2:29551239 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1548C>T (p.Asp516=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000981342] |
Chr2:29318403 [GRCh38]
Chr2:29541269 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2845G>A (p.Glu949Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000816876] |
Chr2:29227643 [GRCh38]
Chr2:29450509 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1601T>C (p.Val534Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000823015] |
Chr2:29318350 [GRCh38]
Chr2:29541216 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1564A>T (p.Ser522Cys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000792548] |
Chr2:29318387 [GRCh38]
Chr2:29541253 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4069C>G (p.Pro1357Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000792688] |
Chr2:29197546 [GRCh38]
Chr2:29420412 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.349C>T (p.Pro117Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000795185] |
Chr2:29920311 [GRCh38]
Chr2:30143177 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1039C>T (p.Leu347=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001451201] |
Chr2:29532030 [GRCh38]
Chr2:29754896 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4393G>C (p.Val1465Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002332605]|Neuroblastoma, susceptibility to, 3 [RCV000797838]|not provided [RCV003489881] |
Chr2:29193694 [GRCh38]
Chr2:29416560 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1924G>A (p.Asp642Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002406772]|Neuroblastoma, susceptibility to, 3 [RCV000801000] |
Chr2:29275216 [GRCh38]
Chr2:29498082 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1392AGA[1] (p.Glu465del) |
microsatellite |
Neuroblastoma, susceptibility to, 3 [RCV000804240] |
Chr2:29328367..29328369 [GRCh38]
Chr2:29551233..29551235 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1698G>A (p.Leu566=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002397731]|Neuroblastoma, susceptibility to, 3 [RCV000823390] |
Chr2:29297007 [GRCh38]
Chr2:29519873 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.1154G>A (p.Gly385Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000823598] |
Chr2:29531915 [GRCh38]
Chr2:29754781 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2813T>C (p.Ile938Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002440674]|Neuroblastoma, susceptibility to, 3 [RCV000801061] |
Chr2:29228886 [GRCh38]
Chr2:29451752 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1225A>G (p.Ser409Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002363175]|Neuroblastoma, susceptibility to, 3 [RCV000823601] |
Chr2:29383789 [GRCh38]
Chr2:29606655 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3130C>T (p.Leu1044Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002325526]|Neuroblastoma, susceptibility to, 3 [RCV000798215] |
Chr2:29225503 [GRCh38]
Chr2:29448369 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1782G>C (p.Gln594His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000817824] |
Chr2:29296923 [GRCh38]
Chr2:29519789 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.569T>C (p.Met190Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000823928] |
Chr2:29920091 [GRCh38]
Chr2:30142957 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.59G>A (p.Gly20Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000824062] |
Chr2:29920601 [GRCh38]
Chr2:30143467 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2736G>A (p.Lys912=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001497944]|not provided [RCV000876449] |
Chr2:29228963 [GRCh38]
Chr2:29451829 [GRCh37]
Chr2:2p23.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004304.5(ALK):c.842A>G (p.His281Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001045591] |
Chr2:29694960 [GRCh38]
Chr2:29917826 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4622T>C (p.Val1541Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001022802]|Neuroblastoma, susceptibility to, 3 [RCV001862230] |
Chr2:29193465 [GRCh38]
Chr2:29416331 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1180G>A (p.Gly394Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001046003]|not provided [RCV003327487] |
Chr2:29383834 [GRCh38]
Chr2:29606700 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1591A>G (p.Ser531Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001068442] |
Chr2:29318360 [GRCh38]
Chr2:29541226 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4768G>C (p.Gly1590Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003307928]|Neuroblastoma, susceptibility to, 3 [RCV001069057] |
Chr2:29193319 [GRCh38]
Chr2:29416185 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3730C>T (p.His1244Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020995] |
Chr2:29213997 [GRCh38]
Chr2:29436863 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4059C>A (p.Asn1353Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021768]|Neuroblastoma, susceptibility to, 3 [RCV001862194] |
Chr2:29197556 [GRCh38]
Chr2:29420422 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.709T>C (p.Ser237Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002255619]|Neuroblastoma, susceptibility to, 3 [RCV001068664] |
Chr2:29717656 [GRCh38]
Chr2:29940522 [GRCh37]
Chr2:2p23.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_004304.5(ALK):c.-896C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001137450] |
Chr2:29921555 [GRCh38]
Chr2:30144421 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4228A>G (p.Lys1410Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002327347]|Neuroblastoma, susceptibility to, 3 [RCV001065975] |
Chr2:29193859 [GRCh38]
Chr2:29416725 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3212T>C (p.Met1071Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003307926]|Neuroblastoma, susceptibility to, 3 [RCV001068974] |
Chr2:29223489 [GRCh38]
Chr2:29446355 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4170G>A (p.Pro1390=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002066361] |
Chr2:29193917 [GRCh38]
Chr2:29416783 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1817+8C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000869529] |
Chr2:29296880 [GRCh38]
Chr2:29519746 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2979C>A (p.Asp993Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002436675]|Neuroblastoma, susceptibility to, 3 [RCV001068897]|not provided [RCV002307677] |
Chr2:29227010 [GRCh38]
Chr2:29449876 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1872T>C (p.Ala624=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001481405] |
Chr2:29275442 [GRCh38]
Chr2:29498308 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.820C>A (p.Leu274Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001963995] |
Chr2:29694982 [GRCh38]
Chr2:29917848 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3360G>A (p.Arg1120=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020086]|Neuroblastoma, susceptibility to, 3 [RCV003633555] |
Chr2:29222607 [GRCh38]
Chr2:29445473 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.1651C>T (p.Arg551Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001065371] |
Chr2:29297054 [GRCh38]
Chr2:29519920 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.370T>C (p.Ser124Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001065406] |
Chr2:29920290 [GRCh38]
Chr2:30143156 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4530G>A (p.Trp1510Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002001515] |
Chr2:29193557 [GRCh38]
Chr2:29416423 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3764G>T (p.Cys1255Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021083] |
Chr2:29209858 [GRCh38]
Chr2:29432724 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1107C>A (p.Asn369Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001065508] |
Chr2:29531962 [GRCh38]
Chr2:29754828 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3359+4A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020079]|Neuroblastoma, susceptibility to, 3 [RCV001299382] |
Chr2:29223338 [GRCh38]
Chr2:29446204 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3672G>A (p.Leu1224=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020854]|Neuroblastoma, susceptibility to, 3 [RCV001044956] |
Chr2:29214055 [GRCh38]
Chr2:29436921 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.4293A>G (p.Lys1431=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001022226] |
Chr2:29193794 [GRCh38]
Chr2:29416660 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1114G>A (p.Ala372Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001044327]|not provided [RCV001356602] |
Chr2:29531955 [GRCh38]
Chr2:29754821 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.954C>A (p.Gly318=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001019474] |
Chr2:29532115 [GRCh38]
Chr2:29754981 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.308G>A (p.Gly103Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001228397] |
Chr2:29920352 [GRCh38]
Chr2:30143218 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3097C>T (p.Leu1033Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002322100]|Neuroblastoma, susceptibility to, 3 [RCV001228401] |
Chr2:29225536 [GRCh38]
Chr2:29448402 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2205-2A>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001045428] |
Chr2:29239832 [GRCh38]
Chr2:29462698 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2866G>A (p.Val956Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001045747] |
Chr2:29227622 [GRCh38]
Chr2:29450488 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3487G>C (p.Asp1163His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020421]|Neuroblastoma, susceptibility to, 3 [RCV001860986] |
Chr2:29222372 [GRCh38]
Chr2:29445238 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.82C>G (p.Arg28Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001231016] |
Chr2:29920578 [GRCh38]
Chr2:30143444 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2212G>A (p.Gly738Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001046028] |
Chr2:29239823 [GRCh38]
Chr2:29462689 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.392C>G (p.Ser131Cys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001067851] |
Chr2:29920268 [GRCh38]
Chr2:30143134 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1075G>C (p.Gly359Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001046067] |
Chr2:29531994 [GRCh38]
Chr2:29754860 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3849T>C (p.Tyr1283=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021283]|Neuroblastoma, susceptibility to, 3 [RCV002069013]|not provided [RCV003425884] |
Chr2:29207260 [GRCh38]
Chr2:29430126 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3091C>T (p.Leu1031=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002320425]|Neuroblastoma, susceptibility to, 3 [RCV001419370]|not specified [RCV001193821] |
Chr2:29225542 [GRCh38]
Chr2:29448408 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2546A>C (p.Tyr849Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002429979]|Neuroblastoma, susceptibility to, 3 [RCV001229686] |
Chr2:29232390 [GRCh38]
Chr2:29455256 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3135G>A (p.Val1045=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002322107]|Neuroblastoma, susceptibility to, 3 [RCV001229702]|not provided [RCV003238850] |
Chr2:29225498 [GRCh38]
Chr2:29448364 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.1648-6T>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001229919] |
Chr2:29297063 [GRCh38]
Chr2:29519929 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4673A>G (p.Glu1558Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001201725] |
Chr2:29193414 [GRCh38]
Chr2:29416280 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2917A>G (p.Met973Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002436777]|Neuroblastoma, susceptibility to, 3 [RCV001202862] |
Chr2:29227072 [GRCh38]
Chr2:29449938 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.787+4A>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001231251] |
Chr2:29717574 [GRCh38]
Chr2:29940440 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4G>A (p.Gly2Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001236481] |
Chr2:29920656 [GRCh38]
Chr2:30143522 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1029G>T (p.Glu343Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001219617] |
Chr2:29532040 [GRCh38]
Chr2:29754906 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.178G>A (p.Val60Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003294011]|Neuroblastoma, susceptibility to, 3 [RCV001208325] |
Chr2:29920482 [GRCh38]
Chr2:30143348 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3469T>C (p.Ser1157Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001239094] |
Chr2:29222390 [GRCh38]
Chr2:29445256 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.864G>T (p.Trp288Cys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001225726] |
Chr2:29694938 [GRCh38]
Chr2:29917804 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4859C>T (p.Pro1620Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001226839] |
Chr2:29193228 [GRCh38]
Chr2:29416094 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1733G>T (p.Gly578Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001231508] |
Chr2:29296972 [GRCh38]
Chr2:29519838 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3428G>T (p.Ser1143Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002327572]|Neuroblastoma, susceptibility to, 3 [RCV001237488] |
Chr2:29222539 [GRCh38]
Chr2:29445405 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.568A>G (p.Met190Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003353246]|Neuroblastoma, susceptibility to, 3 [RCV001238817] |
Chr2:29920092 [GRCh38]
Chr2:30142958 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.677C>T (p.Ser226Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001240394] |
Chr2:29717688 [GRCh38]
Chr2:29940554 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2230G>A (p.Gly744Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001242065] |
Chr2:29239805 [GRCh38]
Chr2:29462671 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2440T>G (p.Trp814Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001204948] |
Chr2:29233612 [GRCh38]
Chr2:29456478 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2702_2711del (p.Thr901fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001205043] |
Chr2:29228988..29228997 [GRCh38]
Chr2:29451854..29451863 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3514A>T (p.Ser1172Cys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001239442] |
Chr2:29222345 [GRCh38]
Chr2:29445211 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3626G>A (p.Arg1209Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002451546]|Neuroblastoma, susceptibility to, 3 [RCV001231336]|not provided [RCV003227940] |
Chr2:29220725 [GRCh38]
Chr2:29443591 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2641G>C (p.Gly881Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001202996] |
Chr2:29229058 [GRCh38]
Chr2:29451924 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.966_968del (p.Leu323del) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001222344] |
Chr2:29532101..29532103 [GRCh38]
Chr2:29754967..29754969 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2798del (p.Gly933fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001233562] |
Chr2:29228901 [GRCh38]
Chr2:29451767 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1361C>G (p.Ala454Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001220915] |
Chr2:29328403 [GRCh38]
Chr2:29551269 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1319C>T (p.Ser440Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001234365] |
Chr2:29328445 [GRCh38]
Chr2:29551311 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2361C>A (p.Asn787Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002447121]|Neuroblastoma, susceptibility to, 3 [RCV001222872] |
Chr2:29233691 [GRCh38]
Chr2:29456557 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3295G>A (p.Ala1099Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002258172]|Neuroblastoma, susceptibility to, 3 [RCV001237413] |
Chr2:29223406 [GRCh38]
Chr2:29446272 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1179del (p.Ile393fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001222527] |
Chr2:29383835 [GRCh38]
Chr2:29606701 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1682G>C (p.Arg561Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001226649] |
Chr2:29297023 [GRCh38]
Chr2:29519889 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3597G>A (p.Met1199Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001226661] |
Chr2:29220754 [GRCh38]
Chr2:29443620 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4001G>A (p.Ser1334Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002375225]|Neuroblastoma, susceptibility to, 3 [RCV001226663] |
Chr2:29197614 [GRCh38]
Chr2:29420480 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.98C>G (p.Ala33Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001234580] |
Chr2:29920562 [GRCh38]
Chr2:30143428 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1648-1G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001206317] |
Chr2:29297058 [GRCh38]
Chr2:29519924 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.775C>A (p.Arg259Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001220362] |
Chr2:29717590 [GRCh38]
Chr2:29940456 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1726G>T (p.Glu576Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001239744] |
Chr2:29296979 [GRCh38]
Chr2:29519845 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.74C>T (p.Thr25Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001220623] |
Chr2:29920586 [GRCh38]
Chr2:30143452 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.779G>A (p.Ser260Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003380905]|Neuroblastoma, susceptibility to, 3 [RCV001224784] |
Chr2:29717586 [GRCh38]
Chr2:29940452 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3322C>G (p.Leu1108Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001226837] |
Chr2:29223379 [GRCh38]
Chr2:29446245 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.440AGG[3] (p.Glu148dup) |
microsatellite |
Neuroblastoma, susceptibility to, 3 [RCV001220602] |
Chr2:29920214..29920215 [GRCh38]
Chr2:30143080..30143081 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3439G>C (p.Val1147Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001234819] |
Chr2:29222528 [GRCh38]
Chr2:29445394 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4052C>A (p.Pro1351His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002322143]|Neuroblastoma, susceptibility to, 3 [RCV001239835] |
Chr2:29197563 [GRCh38]
Chr2:29420429 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1989G>T (p.Glu663Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001239479] |
Chr2:29275151 [GRCh38]
Chr2:29498017 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2786C>G (p.Ser929Cys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001239495] |
Chr2:29228913 [GRCh38]
Chr2:29451779 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2488-1G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001241173] |
Chr2:29232449 [GRCh38]
Chr2:29455315 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3992C>T (p.Pro1331Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001206603] |
Chr2:29197623 [GRCh38]
Chr2:29420489 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2755G>A (p.Gly919Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001221273] |
Chr2:29228944 [GRCh38]
Chr2:29451810 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3025G>C (p.Asp1009His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002436807]|Neuroblastoma, susceptibility to, 3 [RCV001209496] |
Chr2:29226964 [GRCh38]
Chr2:29449830 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.85G>A (p.Ala29Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001220993] |
Chr2:29920575 [GRCh38]
Chr2:30143441 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3472G>A (p.Glu1158Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001235187] |
Chr2:29222387 [GRCh38]
Chr2:29445253 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.317C>T (p.Pro106Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001221471] |
Chr2:29920343 [GRCh38]
Chr2:30143209 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3187C>T (p.His1063Tyr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001210083] |
Chr2:29223514 [GRCh38]
Chr2:29446380 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4590G>T (p.Arg1530Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002339596]|Neuroblastoma, susceptibility to, 3 [RCV001223835] |
Chr2:29193497 [GRCh38]
Chr2:29416363 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2778_2798del (p.Cys928_Gly934del) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001221379] |
Chr2:29228901..29228921 [GRCh38]
Chr2:29451767..29451787 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1682G>A (p.Arg561Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001223119] |
Chr2:29297023 [GRCh38]
Chr2:29519889 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4318G>A (p.Ala1440Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001225192] |
Chr2:29193769 [GRCh38]
Chr2:29416635 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2217C>A (p.Tyr739Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001227336] |
Chr2:29239818 [GRCh38]
Chr2:29462684 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.557G>A (p.Arg186Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002348826]|Neuroblastoma, susceptibility to, 3 [RCV001243468] |
Chr2:29920103 [GRCh38]
Chr2:30142969 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1324A>G (p.Thr442Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001210827] |
Chr2:29328440 [GRCh38]
Chr2:29551306 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.595G>T (p.Gly199Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002356886]|Neuroblastoma, susceptibility to, 3 [RCV001207044] |
Chr2:29920065 [GRCh38]
Chr2:30142931 [GRCh37]
Chr2:2p23.1 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.3743+3G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002348817]|Neuroblastoma, susceptibility to, 3 [RCV001240396] |
Chr2:29213981 [GRCh38]
Chr2:29436847 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3350C>A (p.Thr1117Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001210046] |
Chr2:29223351 [GRCh38]
Chr2:29446217 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.934_936del (p.Ser312del) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001210196] |
Chr2:29694866..29694868 [GRCh38]
Chr2:29917732..29917734 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3101C>T (p.Ser1034Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001223216] |
Chr2:29225532 [GRCh38]
Chr2:29448398 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4165-5G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001226461] |
Chr2:29193927 [GRCh38]
Chr2:29416793 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2222C>G (p.Ala741Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001238248] |
Chr2:29239813 [GRCh38]
Chr2:29462679 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.902T>A (p.Met301Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001043124] |
Chr2:29694900 [GRCh38]
Chr2:29917766 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4451A>G (p.Asn1484Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002259094]|Neuroblastoma, susceptibility to, 3 [RCV001224447] |
Chr2:29193636 [GRCh38]
Chr2:29416502 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4830A>T (p.Lys1610Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002339587]|Neuroblastoma, susceptibility to, 3 [RCV001221777] |
Chr2:29193257 [GRCh38]
Chr2:29416123 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2204+5G>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001238336] |
Chr2:29251100 [GRCh38]
Chr2:29473966 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4547C>T (p.Thr1516Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001210273] |
Chr2:29193540 [GRCh38]
Chr2:29416406 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3836G>A (p.Arg1279Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002356946]|Neuroblastoma, susceptibility to, 3 [RCV001222120] |
Chr2:29209786 [GRCh38]
Chr2:29432652 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2767G>A (p.Gly923Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003353231]|Neuroblastoma, susceptibility to, 3 [RCV001230205] |
Chr2:29228932 [GRCh38]
Chr2:29451798 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4297G>C (p.Glu1433Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001238556] |
Chr2:29193790 [GRCh38]
Chr2:29416656 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2487+4_2487+5dup |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV001201979] |
Chr2:29233559..29233560 [GRCh38]
Chr2:29456425..29456426 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1300A>G (p.Lys434Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001247824] |
Chr2:29328464 [GRCh38]
Chr2:29551330 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4219G>A (p.Glu1407Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001204267] |
Chr2:29193868 [GRCh38]
Chr2:29416734 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2319C>G (p.Ile773Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001230267] |
Chr2:29239716 [GRCh38]
Chr2:29462582 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3013A>G (p.Ile1005Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001219189] |
Chr2:29226976 [GRCh38]
Chr2:29449842 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.347C>A (p.Ala116Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001215365] |
Chr2:29920313 [GRCh38]
Chr2:30143179 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.745A>G (p.Met249Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001215489] |
Chr2:29717620 [GRCh38]
Chr2:29940486 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3145G>A (p.Val1049Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002322043]|Neuroblastoma, susceptibility to, 3 [RCV001215504] |
Chr2:29225488 [GRCh38]
Chr2:29448354 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1760A>G (p.Tyr587Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002411859]|Neuroblastoma, susceptibility to, 3 [RCV001232995] |
Chr2:29296945 [GRCh38]
Chr2:29519811 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4654G>T (p.Gly1552Trp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001211367] |
Chr2:29193433 [GRCh38]
Chr2:29416299 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3813C>T (p.Phe1271=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021212]|Neuroblastoma, susceptibility to, 3 [RCV001483717] |
Chr2:29209809 [GRCh38]
Chr2:29432675 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3829A>G (p.Ile1277Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021240]|Neuroblastoma, susceptibility to, 3 [RCV001873341] |
Chr2:29209793 [GRCh38]
Chr2:29432659 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2065G>C (p.Gly689Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001143780] |
Chr2:29251244 [GRCh38]
Chr2:29474110 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3836+6T>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001043286] |
Chr2:29209780 [GRCh38]
Chr2:29432646 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.-699A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001142192] |
Chr2:29921358 [GRCh38]
Chr2:30144224 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.378G>T (p.Val126=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003162125]|Neuroblastoma, susceptibility to, 3 [RCV003104782] |
Chr2:29920282 [GRCh38]
Chr2:30143148 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.2816-67C>T |
single nucleotide variant |
not provided [RCV001581485] |
Chr2:29227739 [GRCh38]
Chr2:29450605 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2204+125G>A |
single nucleotide variant |
not provided [RCV001564913] |
Chr2:29250980 [GRCh38]
Chr2:29473846 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1547-29G>A |
single nucleotide variant |
not provided [RCV001569399] |
Chr2:29318433 [GRCh38]
Chr2:29541299 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3836+175G>A |
single nucleotide variant |
not provided [RCV001565542] |
Chr2:29209611 [GRCh38]
Chr2:29432477 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4164+171T>C |
single nucleotide variant |
not provided [RCV001575022] |
Chr2:29196599 [GRCh38]
Chr2:29419465 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1415-26A>G |
single nucleotide variant |
not provided [RCV001588327] |
Chr2:29320908 [GRCh38]
Chr2:29543774 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3938+149C>T |
single nucleotide variant |
not provided [RCV001617728] |
Chr2:29207022 [GRCh38]
Chr2:29429888 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.3836+243del |
deletion |
not provided [RCV001638694] |
Chr2:29209543 [GRCh38]
Chr2:29432409 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.1414+55C>T |
single nucleotide variant |
not provided [RCV001638696] |
Chr2:29328295 [GRCh38]
Chr2:29551161 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.3938+57C>T |
single nucleotide variant |
not provided [RCV001555223] |
Chr2:29207114 [GRCh38]
Chr2:29429980 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3173-147T>A |
single nucleotide variant |
not provided [RCV001598341] |
Chr2:29223675 [GRCh38]
Chr2:29446541 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.1817+148AC[12] |
microsatellite |
not provided [RCV001688318] |
Chr2:29296722..29296723 [GRCh38]
Chr2:29519588..29519589 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.1155-8718A>C |
single nucleotide variant |
not provided [RCV001713633] |
Chr2:29392577 [GRCh38]
Chr2:29615443 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.3836+223dup |
duplication |
not provided [RCV001534940] |
Chr2:29209542..29209543 [GRCh38]
Chr2:29432408..29432409 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1817+279G>T |
single nucleotide variant |
not provided [RCV001659184] |
Chr2:29296609 [GRCh38]
Chr2:29519475 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.1155-99C>T |
single nucleotide variant |
not provided [RCV001638377] |
Chr2:29383958 [GRCh38]
Chr2:29606824 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.3645+199C>T |
single nucleotide variant |
not provided [RCV001713861] |
Chr2:29220507 [GRCh38]
Chr2:29443373 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.2914+140_2914+149del |
deletion |
not provided [RCV001671649] |
Chr2:29227425..29227434 [GRCh38]
Chr2:29450291..29450300 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.3067+262G>A |
single nucleotide variant |
not provided [RCV001691132] |
Chr2:29226660 [GRCh38]
Chr2:29449526 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.3068-329G>A |
single nucleotide variant |
not provided [RCV001692989] |
Chr2:29225894 [GRCh38]
Chr2:29448760 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.4073+260C>T |
single nucleotide variant |
not provided [RCV001556676] |
Chr2:29197282 [GRCh38]
Chr2:29420148 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.788-105A>G |
single nucleotide variant |
not provided [RCV001577261] |
Chr2:29695119 [GRCh38]
Chr2:29917985 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1001T>A (p.Leu334Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001964044] |
Chr2:29532068 [GRCh38]
Chr2:29754934 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2042-35C>T |
single nucleotide variant |
not provided [RCV001577679] |
Chr2:29251302 [GRCh38]
Chr2:29474168 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.953-112T>A |
single nucleotide variant |
not provided [RCV001545118] |
Chr2:29532228 [GRCh38]
Chr2:29755094 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1817+39A>G |
single nucleotide variant |
not provided [RCV001567775] |
Chr2:29296849 [GRCh38]
Chr2:29519715 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1414+62C>T |
single nucleotide variant |
not provided [RCV001570362] |
Chr2:29328288 [GRCh38]
Chr2:29551154 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2355+248A>T |
single nucleotide variant |
not provided [RCV001680474] |
Chr2:29239432 [GRCh38]
Chr2:29462298 [GRCh37]
Chr2:2p23.2 |
benign |
| GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3 |
copy number gain |
not provided [RCV001532444] |
Chr2:24881528..43460021 [GRCh37]
Chr2:2p23.3-21 |
likely pathogenic |
| NM_004304.5(ALK):c.1155-8508A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002073127]|not provided [RCV001673679] |
Chr2:29392367 [GRCh38]
Chr2:29615233 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.3194A>C (p.Glu1065Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293700] |
Chr2:29223507 [GRCh38]
Chr2:29446373 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3298G>T (p.Gly1100Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293705] |
Chr2:29223403 [GRCh38]
Chr2:29446269 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3902T>G (p.Phe1301Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293720] |
Chr2:29207207 [GRCh38]
Chr2:29430073 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1386C>G (p.Ala462=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293704] |
Chr2:29328378 [GRCh38]
Chr2:29551244 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4056G>A (p.Lys1352=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293717] |
Chr2:29197559 [GRCh38]
Chr2:29420425 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3010G>A (p.Val1004Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293725] |
Chr2:29226979 [GRCh38]
Chr2:29449845 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.906C>A (p.Asp302Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293699]|Neuroblastoma, susceptibility to, 3 [RCV003517479] |
Chr2:29694896 [GRCh38]
Chr2:29917762 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1442A>G (p.Asn481Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293701] |
Chr2:29320855 [GRCh38]
Chr2:29543721 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3331G>A (p.Val1111Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293706]|Neuroblastoma, susceptibility to, 3 [RCV003517480] |
Chr2:29223370 [GRCh38]
Chr2:29446236 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3495C>T (p.Leu1165=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003169214]|Neuroblastoma, susceptibility to, 3 [RCV001493055] |
Chr2:29222364 [GRCh38]
Chr2:29445230 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3840G>C (p.Ala1280=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021272]|Neuroblastoma, susceptibility to, 3 [RCV000874127] |
Chr2:29207269 [GRCh38]
Chr2:29430135 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1374C>T (p.His458=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000983780] |
Chr2:29328390 [GRCh38]
Chr2:29551256 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2457A>G (p.Gly819=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002427190]|Neuroblastoma, susceptibility to, 3 [RCV000873047]|not provided [RCV003886449] |
Chr2:29233595 [GRCh38]
Chr2:29456461 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1257C>T (p.Phe419=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002416168]|Neuroblastoma, susceptibility to, 3 [RCV001481389] |
Chr2:29383757 [GRCh38]
Chr2:29606623 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2898C>T (p.Tyr966=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000951664] |
Chr2:29227590 [GRCh38]
Chr2:29450456 [GRCh37]
Chr2:2p23.2 |
likely benign |
| t(2;3)(p12;p14.3) |
translocation |
Lung carcinoma [RCV000853114] |
Chr3:3p14.3 |
pathogenic |
| NM_004304.5(ALK):c.361C>A (p.Arg121=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000905375] |
Chr2:29920299 [GRCh38]
Chr2:30143165 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.2199C>T (p.Thr733=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001418329] |
Chr2:29251110 [GRCh38]
Chr2:29473976 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.297C>T (p.Leu99=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002256586]|Neuroblastoma, susceptibility to, 3 [RCV000896581] |
Chr2:29920363 [GRCh38]
Chr2:30143229 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4809T>C (p.His1603=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002336819]|Neuroblastoma, susceptibility to, 3 [RCV000870214] |
Chr2:29193278 [GRCh38]
Chr2:29416144 [GRCh37]
Chr2:2p23.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_004304.5(ALK):c.1554T>C (p.Ala518=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002255558]|Neuroblastoma, susceptibility to, 3 [RCV001489192] |
Chr2:29318397 [GRCh38]
Chr2:29541263 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2583G>A (p.Leu861=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000952375] |
Chr2:29232353 [GRCh38]
Chr2:29455219 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1884C>T (p.Ile628=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001392677] |
Chr2:29275430 [GRCh38]
Chr2:29498296 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2633-5C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000932699] |
Chr2:29229071 [GRCh38]
Chr2:29451937 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2577G>A (p.Glu859=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002427099]|Neuroblastoma, susceptibility to, 3 [RCV000862604] |
Chr2:29232359 [GRCh38]
Chr2:29455225 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.21G>C (p.Leu7=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001447072] |
Chr2:29920639 [GRCh38]
Chr2:30143505 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.66G>C (p.Gly22=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002363267]|Neuroblastoma, susceptibility to, 3 [RCV001397032]|not provided [RCV003424407] |
Chr2:29920594 [GRCh38]
Chr2:30143460 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4194G>C (p.Pro1398=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000933271] |
Chr2:29193893 [GRCh38]
Chr2:29416759 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2257C>A (p.Arg753=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002445046]|Neuroblastoma, susceptibility to, 3 [RCV000928777] |
Chr2:29239778 [GRCh38]
Chr2:29462644 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2628C>T (p.Ala876=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002434116]|Neuroblastoma, susceptibility to, 3 [RCV000870834] |
Chr2:29232308 [GRCh38]
Chr2:29455174 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2355+8C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001438195] |
Chr2:29239672 [GRCh38]
Chr2:29462538 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1599A>G (p.Thr533=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002400142]|Neuroblastoma, susceptibility to, 3 [RCV000978559] |
Chr2:29318352 [GRCh38]
Chr2:29541218 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3657C>T (p.Ser1219=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002453981]|Neuroblastoma, susceptibility to, 3 [RCV000867792] |
Chr2:29214070 [GRCh38]
Chr2:29436936 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4248G>A (p.Lys1416=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002332759]|Neuroblastoma, susceptibility to, 3 [RCV000861556] |
Chr2:29193839 [GRCh38]
Chr2:29416705 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2781G>T (p.Gly927=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003169183]|Neuroblastoma, susceptibility to, 3 [RCV001506598] |
Chr2:29228918 [GRCh38]
Chr2:29451784 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3068-9G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000951003] |
Chr2:29225574 [GRCh38]
Chr2:29448440 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1581C>G (p.Pro527=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002400111]|Neuroblastoma, susceptibility to, 3 [RCV000952646] |
Chr2:29318370 [GRCh38]
Chr2:29541236 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3417C>T (p.Pro1139=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002454185]|Neuroblastoma, susceptibility to, 3 [RCV001434924] |
Chr2:29222550 [GRCh38]
Chr2:29445416 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3172+10C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001443118] |
Chr2:29225451 [GRCh38]
Chr2:29448317 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2400G>C (p.Val800=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001481835] |
Chr2:29233652 [GRCh38]
Chr2:29456518 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1283-14TG[2] |
microsatellite |
Neuroblastoma, susceptibility to, 3 [RCV002539255] |
Chr2:29328490..29328491 [GRCh38]
Chr2:29551356..29551357 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2598G>A (p.Ser866=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002427185]|Neuroblastoma, susceptibility to, 3 [RCV000872463] |
Chr2:29232338 [GRCh38]
Chr2:29455204 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3666C>T (p.Ala1222=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000917884] |
Chr2:29214061 [GRCh38]
Chr2:29436927 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4074-3T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002322015]|Neuroblastoma, susceptibility to, 3 [RCV001207281] |
Chr2:29196863 [GRCh38]
Chr2:29419729 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3346A>C (p.Ile1116Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020048] |
Chr2:29223355 [GRCh38]
Chr2:29446221 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1648-162C>T |
single nucleotide variant |
not provided [RCV001537319] |
Chr2:29297219 [GRCh38]
Chr2:29520085 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.3359+1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002322036]|Neuroblastoma, susceptibility to, 3 [RCV001214195] |
Chr2:29223341 [GRCh38]
Chr2:29446207 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.80A>G (p.Gln27Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001035163] |
Chr2:29920580 [GRCh38]
Chr2:30143446 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4286A>G (p.Gln1429Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001218788] |
Chr2:29193801 [GRCh38]
Chr2:29416667 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2117A>G (p.Gln706Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001242266] |
Chr2:29251192 [GRCh38]
Chr2:29474058 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3555G>T (p.Val1185=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020597]|Neuroblastoma, susceptibility to, 3 [RCV002068994] |
Chr2:29220796 [GRCh38]
Chr2:29443662 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4411G>A (p.Val1471Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002327371]|Neuroblastoma, susceptibility to, 3 [RCV001071336] |
Chr2:29193676 [GRCh38]
Chr2:29416542 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.2086C>A (p.Pro696Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003294079]|Neuroblastoma, susceptibility to, 3 [RCV001226430] |
Chr2:29251223 [GRCh38]
Chr2:29474089 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4237G>A (p.Val1413Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002327593]|Neuroblastoma, susceptibility to, 3 [RCV001244651] |
Chr2:29193850 [GRCh38]
Chr2:29416716 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.3575G>A (p.Arg1192Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020644]|Neuroblastoma, susceptibility to, 3 [RCV001361684] |
Chr2:29220776 [GRCh38]
Chr2:29443642 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4348G>A (p.Gly1450Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002327548]|Neuroblastoma, susceptibility to, 3 [RCV001230204] |
Chr2:29193739 [GRCh38]
Chr2:29416605 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.788-2A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001071480] |
Chr2:29695016 [GRCh38]
Chr2:29917882 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.362G>A (p.Arg121Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460124]|Neuroblastoma, susceptibility to, 3 [RCV001035741] |
Chr2:29920298 [GRCh38]
Chr2:30143164 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.691A>G (p.Thr231Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001244669] |
Chr2:29717674 [GRCh38]
Chr2:29940540 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3337C>G (p.Arg1113Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001243134] |
Chr2:29223364 [GRCh38]
Chr2:29446230 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3663G>C (p.Leu1221=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020830]|Neuroblastoma, susceptibility to, 3 [RCV001410780] |
Chr2:29214064 [GRCh38]
Chr2:29436930 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4045G>A (p.Asp1349Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001230343] |
Chr2:29197570 [GRCh38]
Chr2:29420436 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.770C>T (p.Ser257Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002402573]|Neuroblastoma, susceptibility to, 3 [RCV001202041] |
Chr2:29717595 [GRCh38]
Chr2:29940461 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.361C>T (p.Arg121Trp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001208088] |
Chr2:29920299 [GRCh38]
Chr2:30143165 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.595G>A (p.Gly199Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001222992] |
Chr2:29920065 [GRCh38]
Chr2:30142931 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1460G>A (p.Cys487Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002393611]|Neuroblastoma, susceptibility to, 3 [RCV001239566] |
Chr2:29320837 [GRCh38]
Chr2:29543703 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1564A>G (p.Ser522Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001239649] |
Chr2:29318387 [GRCh38]
Chr2:29541253 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2535_2536inv (p.Gly846Ser) |
inversion |
Neuroblastoma, susceptibility to, 3 [RCV001227091] |
Chr2:29232400..29232401 [GRCh38]
Chr2:29455266..29455267 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1228G>A (p.Gly410Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003353225]|Neuroblastoma, susceptibility to, 3 [RCV001227273] |
Chr2:29383786 [GRCh38]
Chr2:29606652 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2191A>G (p.Thr731Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001213053] |
Chr2:29251118 [GRCh38]
Chr2:29473984 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.475G>A (p.Gly159Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001223444] |
Chr2:29920185 [GRCh38]
Chr2:30143051 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4471_4472delinsCG (p.Lys1491Arg) |
indel |
Neuroblastoma, susceptibility to, 3 [RCV001243558] |
Chr2:29193615..29193616 [GRCh38]
Chr2:29416481..29416482 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1593T>G (p.Ser531Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001245222] |
Chr2:29318358 [GRCh38]
Chr2:29541224 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4253C>G (p.Pro1418Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001216712] |
Chr2:29193834 [GRCh38]
Chr2:29416700 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3450G>A (p.Lys1150=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001050915] |
Chr2:29222517 [GRCh38]
Chr2:29445383 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3592C>A (p.Leu1198Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002339567]|Neuroblastoma, susceptibility to, 3 [RCV001216962] |
Chr2:29220759 [GRCh38]
Chr2:29443625 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4808A>T (p.His1603Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001234233] |
Chr2:29193279 [GRCh38]
Chr2:29416145 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.662G>A (p.Gly221Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001237223] |
Chr2:29919998 [GRCh38]
Chr2:30142864 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1307C>T (p.Ala436Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001220331] |
Chr2:29328457 [GRCh38]
Chr2:29551323 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.516G>T (p.Glu172Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001223826] |
Chr2:29920144 [GRCh38]
Chr2:30143010 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.393C>G (p.Ser131=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001043996] |
Chr2:29920267 [GRCh38]
Chr2:30143133 [GRCh37]
Chr2:2p23.1 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.-611G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001142189] |
Chr2:29921270 [GRCh38]
Chr2:30144136 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1474G>C (p.Gly492Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001248627] |
Chr2:29320823 [GRCh38]
Chr2:29543689 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.623T>C (p.Ile208Thr) |
single nucleotide variant |
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype [RCV003313172]|Hereditary cancer-predisposing syndrome [RCV002363554]|Neuroblastoma, susceptibility to, 3 [RCV001037225] |
Chr2:29920037 [GRCh38]
Chr2:30142903 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2778G>T (p.Gly926=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001051518] |
Chr2:29228921 [GRCh38]
Chr2:29451787 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1670G>T (p.Arg557Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002402761]|Neuroblastoma, susceptibility to, 3 [RCV001240508] |
Chr2:29297035 [GRCh38]
Chr2:29519901 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.863G>T (p.Trp288Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001243871] |
Chr2:29694939 [GRCh38]
Chr2:29917805 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3158C>T (p.Ser1053Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001066377] |
Chr2:29225475 [GRCh38]
Chr2:29448341 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.782G>T (p.Arg261Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001066399]|not provided [RCV003490055] |
Chr2:29717583 [GRCh38]
Chr2:29940449 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4232T>G (p.Val1411Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002327531]|Neuroblastoma, susceptibility to, 3 [RCV001224224] |
Chr2:29193855 [GRCh38]
Chr2:29416721 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2266G>A (p.Gly756Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002445362]|Neuroblastoma, susceptibility to, 3 [RCV001069556] |
Chr2:29239769 [GRCh38]
Chr2:29462635 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1867G>A (p.Val623Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002411816]|Neuroblastoma, susceptibility to, 3 [RCV001220839] |
Chr2:29275447 [GRCh38]
Chr2:29498313 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.409C>A (p.Arg137Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001224554] |
Chr2:29920251 [GRCh38]
Chr2:30143117 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2633-6C>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001217401] |
Chr2:29229072 [GRCh38]
Chr2:29451938 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.478G>A (p.Glu160Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003380916]|Neuroblastoma, susceptibility to, 3 [RCV001234761] |
Chr2:29920182 [GRCh38]
Chr2:30143048 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.*407A>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001143467] |
Chr2:29192817 [GRCh38]
Chr2:29415683 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2724G>C (p.Gln908His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001069891] |
Chr2:29228975 [GRCh38]
Chr2:29451841 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3361G>A (p.Gly1121Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002322072]|Neuroblastoma, susceptibility to, 3 [RCV001221266] |
Chr2:29222606 [GRCh38]
Chr2:29445472 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NC_000002.12:g.(?_29193218)_(29239836_?)dup |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV001031661] |
Chr2:29416084..29462702 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1720G>C (p.Gly574Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001143783] |
Chr2:29296985 [GRCh38]
Chr2:29519851 [GRCh37]
Chr2:2p23.2 |
benign|conflicting interpretations of pathogenicity |
| NM_004304.5(ALK):c.4051C>G (p.Pro1351Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001217979] |
Chr2:29197564 [GRCh38]
Chr2:29420430 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4208C>T (p.Pro1403Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002327474]|Neuroblastoma, susceptibility to, 3 [RCV001206851] |
Chr2:29193879 [GRCh38]
Chr2:29416745 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2842C>T (p.Pro948Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001221585] |
Chr2:29227646 [GRCh38]
Chr2:29450512 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.46A>G (p.Thr16Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002339607]|Neuroblastoma, susceptibility to, 3 [RCV001225351] |
Chr2:29920614 [GRCh38]
Chr2:30143480 [GRCh37]
Chr2:2p23.1 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.35T>C (p.Leu12Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001046255] |
Chr2:29920625 [GRCh38]
Chr2:30143491 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.-128A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001139571] |
Chr2:29920787 [GRCh38]
Chr2:30143653 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.205C>T (p.Arg69Trp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001225650] |
Chr2:29920455 [GRCh38]
Chr2:30143321 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3649C>G (p.Gln1217Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001244147] |
Chr2:29214078 [GRCh38]
Chr2:29436944 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1482G>C (p.Leu494=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003169389]|Neuroblastoma, susceptibility to, 3 [RCV001439511] |
Chr2:29320815 [GRCh38]
Chr2:29543681 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4467G>A (p.Leu1489=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003169392]|Neuroblastoma, susceptibility to, 3 [RCV000935970] |
Chr2:29193620 [GRCh38]
Chr2:29416486 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2154C>A (p.Gly718=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002427324]|Neuroblastoma, susceptibility to, 3 [RCV001484741] |
Chr2:29251155 [GRCh38]
Chr2:29474021 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3471T>C (p.Ser1157=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003169377]|Neuroblastoma, susceptibility to, 3 [RCV001427017] |
Chr2:29222388 [GRCh38]
Chr2:29445254 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4695T>C (p.Asn1565=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002336953]|Neuroblastoma, susceptibility to, 3 [RCV000935549] |
Chr2:29193392 [GRCh38]
Chr2:29416258 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.426G>T (p.Val142=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001455153] |
Chr2:29920234 [GRCh38]
Chr2:30143100 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.351G>T (p.Pro117=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV000891162] |
Chr2:29920309 [GRCh38]
Chr2:30143175 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1154+7A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001480512] |
Chr2:29531908 [GRCh38]
Chr2:29754774 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3789A>G (p.Gly1263=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002346118]|Neuroblastoma, susceptibility to, 3 [RCV000934883] |
Chr2:29209833 [GRCh38]
Chr2:29432699 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2632+179C>T |
single nucleotide variant |
not provided [RCV001571837] |
Chr2:29232125 [GRCh38]
Chr2:29454991 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.-151G>A |
single nucleotide variant |
not provided [RCV001562431] |
Chr2:29920810 [GRCh38]
Chr2:30143676 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1817+148AC[10] |
microsatellite |
not provided [RCV001567499] |
Chr2:29296722..29296723 [GRCh38]
Chr2:29519588..29519589 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2487+251A>T |
single nucleotide variant |
not provided [RCV001657062] |
Chr2:29233314 [GRCh38]
Chr2:29456180 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.2914+67A>T |
single nucleotide variant |
not provided [RCV001563281] |
Chr2:29227507 [GRCh38]
Chr2:29450373 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3938+273A>G |
single nucleotide variant |
not provided [RCV001558403] |
Chr2:29206898 [GRCh38]
Chr2:29429764 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3645+188G>A |
single nucleotide variant |
not provided [RCV001717594] |
Chr2:29220518 [GRCh38]
Chr2:29443384 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.1818-206G>A |
single nucleotide variant |
not provided [RCV001559593] |
Chr2:29275702 [GRCh38]
Chr2:29498568 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2915-242C>T |
single nucleotide variant |
not provided [RCV001593941] |
Chr2:29227316 [GRCh38]
Chr2:29450182 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.667+236T>A |
single nucleotide variant |
not provided [RCV001553433] |
Chr2:29919757 [GRCh38]
Chr2:30142623 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3836+235_3836+243del |
deletion |
not provided [RCV001576044] |
Chr2:29209543..29209551 [GRCh38]
Chr2:29432409..29432417 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3248T>G (p.Leu1083Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002257343] |
Chr2:29223453 [GRCh38]
Chr2:29446319 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1282+250T>C |
single nucleotide variant |
not provided [RCV001556128] |
Chr2:29383482 [GRCh38]
Chr2:29606348 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3359+165G>T |
single nucleotide variant |
not provided [RCV001576879] |
Chr2:29223177 [GRCh38]
Chr2:29446043 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4064C>T (p.Pro1355Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021789]|Neuroblastoma, susceptibility to, 3 [RCV003517296] |
Chr2:29197551 [GRCh38]
Chr2:29420417 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| GRCh37/hg19 2p23.2(chr2:28387514-29616031)x3 |
copy number gain |
not provided [RCV001005238] |
Chr2:28387514..29616031 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1112C>G (p.Ala371Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003160311]|Neuroblastoma, susceptibility to, 3 [RCV001043638] |
Chr2:29531957 [GRCh38]
Chr2:29754823 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4589G>A (p.Arg1530Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001066091] |
Chr2:29193498 [GRCh38]
Chr2:29416364 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3390G>A (p.Val1130=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020175]|Neuroblastoma, susceptibility to, 3 [RCV001465740] |
Chr2:29222577 [GRCh38]
Chr2:29445443 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3442G>A (p.Ala1148Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020319] |
Chr2:29222525 [GRCh38]
Chr2:29445391 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3777T>C (p.Cys1259=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021112]|Neuroblastoma, susceptibility to, 3 [RCV002069012] |
Chr2:29209845 [GRCh38]
Chr2:29432711 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1283-146C>G |
single nucleotide variant |
not provided [RCV001636210] |
Chr2:29328627 [GRCh38]
Chr2:29551493 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.1282+164G>A |
single nucleotide variant |
not provided [RCV001723201] |
Chr2:29383568 [GRCh38]
Chr2:29606434 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.4165-237C>G |
single nucleotide variant |
not provided [RCV001723213] |
Chr2:29194159 [GRCh38]
Chr2:29417025 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.3837-327T>C |
single nucleotide variant |
not provided [RCV001655559] |
Chr2:29207599 [GRCh38]
Chr2:29430465 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.2356-304_2356-303insC |
insertion |
not provided [RCV001639614] |
Chr2:29233999..29234000 [GRCh38]
Chr2:29456865..29456866 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.2815+239G>C |
single nucleotide variant |
not provided [RCV001677683] |
Chr2:29228645 [GRCh38]
Chr2:29451511 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.4164+198A>G |
single nucleotide variant |
not provided [RCV001723215] |
Chr2:29196572 [GRCh38]
Chr2:29419438 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.3068-241G>T |
single nucleotide variant |
not provided [RCV001723217] |
Chr2:29225806 [GRCh38]
Chr2:29448672 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.2632+154G>A |
single nucleotide variant |
not provided [RCV001716870] |
Chr2:29232150 [GRCh38]
Chr2:29455016 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.3516-25G>C |
single nucleotide variant |
not provided [RCV001545404] |
Chr2:29220860 [GRCh38]
Chr2:29443726 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4074-279G>T |
single nucleotide variant |
not provided [RCV001594069] |
Chr2:29197139 [GRCh38]
Chr2:29420005 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.667+119C>T |
single nucleotide variant |
not provided [RCV001545690] |
Chr2:29919874 [GRCh38]
Chr2:30142740 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.2204+135G>T |
single nucleotide variant |
not provided [RCV001581795] |
Chr2:29250970 [GRCh38]
Chr2:29473836 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3646-126C>T |
single nucleotide variant |
not provided [RCV001594053] |
Chr2:29214207 [GRCh38]
Chr2:29437073 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1817+148AC[11] |
microsatellite |
not provided [RCV001595576] |
Chr2:29296722..29296723 [GRCh38]
Chr2:29519588..29519589 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.2487+47A>G |
single nucleotide variant |
not provided [RCV001714592] |
Chr2:29233518 [GRCh38]
Chr2:29456384 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.1283-49C>T |
single nucleotide variant |
not provided [RCV001714634] |
Chr2:29328530 [GRCh38]
Chr2:29551396 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.3068-225C>A |
single nucleotide variant |
not provided [RCV001590540] |
Chr2:29225790 [GRCh38]
Chr2:29448656 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2487+46C>T |
single nucleotide variant |
not provided [RCV001718326] |
Chr2:29233519 [GRCh38]
Chr2:29456385 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.3836+248C>T |
single nucleotide variant |
not provided [RCV001654224] |
Chr2:29209538 [GRCh38]
Chr2:29432404 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.2487+240dup |
duplication |
not provided [RCV001592183] |
Chr2:29233317..29233318 [GRCh38]
Chr2:29456183..29456184 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1283-47T>A |
single nucleotide variant |
not provided [RCV001621348] |
Chr2:29328528 [GRCh38]
Chr2:29551394 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.3359+226C>G |
single nucleotide variant |
not provided [RCV001615407] |
Chr2:29223116 [GRCh38]
Chr2:29445982 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.-490C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001142187] |
Chr2:29921149 [GRCh38]
Chr2:30144015 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3258G>A (p.Ser1086=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001019489]|Neuroblastoma, susceptibility to, 3 [RCV001435335] |
Chr2:29223443 [GRCh38]
Chr2:29446309 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3335C>T (p.Pro1112Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020018]|Neuroblastoma, susceptibility to, 3 [RCV001054977] |
Chr2:29223366 [GRCh38]
Chr2:29446232 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3557G>A (p.Ser1186Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020604]|Neuroblastoma, susceptibility to, 3 [RCV001238733] |
Chr2:29220794 [GRCh38]
Chr2:29443660 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3744-53del |
deletion |
Squamous cell lung carcinoma [RCV001250961] |
Chr2:29209931 [GRCh38]
Chr2:29432797 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3877G>A (p.Val1293Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002365785]|Neuroblastoma, susceptibility to, 3 [RCV001071449] |
Chr2:29207232 [GRCh38]
Chr2:29430098 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2067G>C (p.Gly689=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014300] |
Chr2:29251242 [GRCh38]
Chr2:29474108 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1890C>T (p.Ile630=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001143782] |
Chr2:29275424 [GRCh38]
Chr2:29498290 [GRCh37]
Chr2:2p23.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_004304.5(ALK):c.128C>T (p.Pro43Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010780]|Neuroblastoma, susceptibility to, 3 [RCV001039229] |
Chr2:29920532 [GRCh38]
Chr2:30143398 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2633G>A (p.Gly878Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002429604]|Neuroblastoma, susceptibility to, 3 [RCV001044769] |
Chr2:29229066 [GRCh38]
Chr2:29451932 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1859G>C (p.Arg620Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001066704] |
Chr2:29275455 [GRCh38]
Chr2:29498321 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.261C>T (p.Ala87=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001016119] |
Chr2:29920399 [GRCh38]
Chr2:30143265 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.-32G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001139569] |
Chr2:29920691 [GRCh38]
Chr2:30143557 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.660C>T (p.Phe220=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003163310]|Neuroblastoma, susceptibility to, 3 [RCV001140248] |
Chr2:29920000 [GRCh38]
Chr2:30142866 [GRCh37]
Chr2:2p23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004304.5(ALK):c.1095G>A (p.Leu365=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001017266]|Neuroblastoma, susceptibility to, 3 [RCV001438141] |
Chr2:29531974 [GRCh38]
Chr2:29754840 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3260C>A (p.Thr1087Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001141874] |
Chr2:29223441 [GRCh38]
Chr2:29446307 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.615C>A (p.Ser205=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002355123]|Neuroblastoma, susceptibility to, 3 [RCV001142088] |
Chr2:29920045 [GRCh38]
Chr2:30142911 [GRCh37]
Chr2:2p23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004304.5(ALK):c.-619G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001142190] |
Chr2:29921278 [GRCh38]
Chr2:30144144 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4633G>A (p.Val1545Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001246089] |
Chr2:29193454 [GRCh38]
Chr2:29416320 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2355+275C>T |
single nucleotide variant |
not provided [RCV001665671] |
Chr2:29239405 [GRCh38]
Chr2:29462271 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.4164+223A>G |
single nucleotide variant |
not provided [RCV001714562] |
Chr2:29196547 [GRCh38]
Chr2:29419413 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.2355+26C>T |
single nucleotide variant |
not provided [RCV001714571] |
Chr2:29239654 [GRCh38]
Chr2:29462520 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.2204+212A>G |
single nucleotide variant |
not provided [RCV001714587] |
Chr2:29250893 [GRCh38]
Chr2:29473759 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.1547-166del |
deletion |
not provided [RCV001651822] |
Chr2:29318570 [GRCh38]
Chr2:29541436 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.2041G>A (p.Val681Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001071092] |
Chr2:29275099 [GRCh38]
Chr2:29497965 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1282+296T>G |
single nucleotide variant |
not provided [RCV001647940] |
Chr2:29383436 [GRCh38]
Chr2:29606302 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.4060T>C (p.Cys1354Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001049582] |
Chr2:29197555 [GRCh38]
Chr2:29420421 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1912+58T>C |
single nucleotide variant |
not provided [RCV001668110] |
Chr2:29275344 [GRCh38]
Chr2:29498210 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.3938+295_3938+296insAA |
insertion |
not provided [RCV001640861] |
Chr2:29206875..29206876 [GRCh38]
Chr2:29429741..29429742 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.3836+27G>T |
single nucleotide variant |
not provided [RCV001714563] |
Chr2:29209759 [GRCh38]
Chr2:29432625 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.2355+276C>T |
single nucleotide variant |
not provided [RCV001651542] |
Chr2:29239404 [GRCh38]
Chr2:29462270 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.2926C>T (p.His976Tyr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001047565] |
Chr2:29227063 [GRCh38]
Chr2:29449929 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NC_000002.12:g.(?_29222334)_(29275506_?)del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001033212] |
Chr2:29445200..29498372 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1912+83_1912+86del |
deletion |
not provided [RCV001533799] |
Chr2:29275316..29275319 [GRCh38]
Chr2:29498182..29498185 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4165-112C>A |
single nucleotide variant |
not provided [RCV001724880] |
Chr2:29194034 [GRCh38]
Chr2:29416900 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.3836+242_3836+243del |
deletion |
not provided [RCV001667221] |
Chr2:29209543..29209544 [GRCh38]
Chr2:29432409..29432410 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.1155-8694G>T |
single nucleotide variant |
not provided [RCV001649029] |
Chr2:29392553 [GRCh38]
Chr2:29615419 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.4226A>T (p.Glu1409Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293859]|Neuroblastoma, susceptibility to, 3 [RCV001069710] |
Chr2:29193861 [GRCh38]
Chr2:29416727 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1718C>T (p.Thr573Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001036081] |
Chr2:29296987 [GRCh38]
Chr2:29519853 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2816-146C>T |
single nucleotide variant |
not provided [RCV001610006] |
Chr2:29227818 [GRCh38]
Chr2:29450684 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.4554G>T (p.Lys1518Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001050419] |
Chr2:29193533 [GRCh38]
Chr2:29416399 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1155-8502A>C |
single nucleotide variant |
not provided [RCV001538392] |
Chr2:29392361 [GRCh38]
Chr2:29615227 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.788-193A>G |
single nucleotide variant |
not provided [RCV001652442] |
Chr2:29695207 [GRCh38]
Chr2:29918073 [GRCh37]
Chr2:2p23.2 |
benign |
| NC_000002.12:g.(?_29919983)_(29920659_?)dup |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV001033818] |
Chr2:30142849..30143525 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2633-83G>A |
single nucleotide variant |
not provided [RCV001564831] |
Chr2:29229149 [GRCh38]
Chr2:29452015 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3939-197G>C |
single nucleotide variant |
not provided [RCV001546519] |
Chr2:29197873 [GRCh38]
Chr2:29420739 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.667+99C>T |
single nucleotide variant |
not provided [RCV001539351] |
Chr2:29919894 [GRCh38]
Chr2:30142760 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4687A>G (p.Thr1563Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001067464] |
Chr2:29193400 [GRCh38]
Chr2:29416266 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3451A>C (p.Thr1151Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001045794] |
Chr2:29222408 [GRCh38]
Chr2:29445274 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.787+112T>C |
single nucleotide variant |
not provided [RCV001540385] |
Chr2:29717466 [GRCh38]
Chr2:29940332 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NC_000002.12:g.(?_29193224)_(29193932_?)dup |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV001031994] |
Chr2:29416090..29416798 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3376G>A (p.Ala1126Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002451182]|Neuroblastoma, susceptibility to, 3 [RCV001046368] |
Chr2:29222591 [GRCh38]
Chr2:29445457 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3476A>T (p.Gln1159Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002451458]|Neuroblastoma, susceptibility to, 3 [RCV001210706] |
Chr2:29222383 [GRCh38]
Chr2:29445249 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4165-158A>G |
single nucleotide variant |
not provided [RCV001530800] |
Chr2:29194080 [GRCh38]
Chr2:29416946 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.352G>C (p.Ala118Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003163653]|Neuroblastoma, susceptibility to, 3 [RCV001215523] |
Chr2:29920308 [GRCh38]
Chr2:30143174 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2506del (p.Val836fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001214042] |
Chr2:29232430 [GRCh38]
Chr2:29455296 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1561C>T (p.Leu521Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001212271] |
Chr2:29318390 [GRCh38]
Chr2:29541256 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2218G>A (p.Gly740Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002430004]|Neuroblastoma, susceptibility to, 3 [RCV001234333] |
Chr2:29239817 [GRCh38]
Chr2:29462683 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.661G>A (p.Gly221Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001219707] |
Chr2:29919999 [GRCh38]
Chr2:30142865 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.375G>C (p.Arg125Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001219745] |
Chr2:29920285 [GRCh38]
Chr2:30143151 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3667A>C (p.Met1223Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001219753] |
Chr2:29214060 [GRCh38]
Chr2:29436926 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4694A>G (p.Asn1565Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001041580] |
Chr2:29193393 [GRCh38]
Chr2:29416259 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4786G>A (p.Ala1596Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001041589] |
Chr2:29193301 [GRCh38]
Chr2:29416167 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1937A>G (p.Gln646Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001217544] |
Chr2:29275203 [GRCh38]
Chr2:29498069 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2152G>C (p.Gly718Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001235730] |
Chr2:29251157 [GRCh38]
Chr2:29474023 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2600T>C (p.Val867Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001234617] |
Chr2:29232336 [GRCh38]
Chr2:29455202 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4073+6A>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001041720] |
Chr2:29197536 [GRCh38]
Chr2:29420402 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1635C>G (p.Ser545Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001060126]|not provided [RCV001760020] |
Chr2:29318316 [GRCh38]
Chr2:29541182 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1543C>G (p.Gln515Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001060331] |
Chr2:29320754 [GRCh38]
Chr2:29543620 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2302G>A (p.Asp768Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002447174]|Neuroblastoma, susceptibility to, 3 [RCV001234816] |
Chr2:29239733 [GRCh38]
Chr2:29462599 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2011C>A (p.Pro671Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001208852] |
Chr2:29275129 [GRCh38]
Chr2:29497995 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3743+3_3743+6dup |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV001071475] |
Chr2:29213977..29213978 [GRCh38]
Chr2:29436843..29436844 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.4201T>G (p.Tyr1401Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001220384] |
Chr2:29193886 [GRCh38]
Chr2:29416752 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4221G>C (p.Glu1407Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001035941] |
Chr2:29193866 [GRCh38]
Chr2:29416732 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1127T>C (p.Leu376Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002445319]|Neuroblastoma, susceptibility to, 3 [RCV001060678] |
Chr2:29531942 [GRCh38]
Chr2:29754808 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.365C>G (p.Thr122Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001208594] |
Chr2:29920295 [GRCh38]
Chr2:30143161 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.262C>A (p.Arg88Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001038752] |
Chr2:29920398 [GRCh38]
Chr2:30143264 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4512C>A (p.Asn1504Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001057200] |
Chr2:29193575 [GRCh38]
Chr2:29416441 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2435A>G (p.His812Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002451235]|Neuroblastoma, susceptibility to, 3 [RCV001057223] |
Chr2:29233617 [GRCh38]
Chr2:29456483 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2789C>G (p.Ser930Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001057238] |
Chr2:29228910 [GRCh38]
Chr2:29451776 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4318G>C (p.Ala1440Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003163513]|Neuroblastoma, susceptibility to, 3 [RCV001201686] |
Chr2:29193769 [GRCh38]
Chr2:29416635 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.904G>C (p.Asp302His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001057288] |
Chr2:29694898 [GRCh38]
Chr2:29917764 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2579G>T (p.Arg860Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001137110] |
Chr2:29232357 [GRCh38]
Chr2:29455223 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4295G>A (p.Arg1432Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001206769] |
Chr2:29193792 [GRCh38]
Chr2:29416658 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3181C>A (p.Arg1061=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001206795] |
Chr2:29223520 [GRCh38]
Chr2:29446386 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3299G>A (p.Gly1100Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003163579]|Neuroblastoma, susceptibility to, 3 [RCV001208524] |
Chr2:29223402 [GRCh38]
Chr2:29446268 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4241G>A (p.Arg1414Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003163528]|Neuroblastoma, susceptibility to, 3 [RCV001202886] |
Chr2:29193846 [GRCh38]
Chr2:29416712 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.901A>G (p.Met301Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001248700] |
Chr2:29694901 [GRCh38]
Chr2:29917767 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.994A>G (p.Thr332Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001208735] |
Chr2:29532075 [GRCh38]
Chr2:29754941 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.526T>C (p.Trp176Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001220134] |
Chr2:29920134 [GRCh38]
Chr2:30143000 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.755C>T (p.Ser252Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001053774] |
Chr2:29717610 [GRCh38]
Chr2:29940476 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2726C>A (p.Ala909Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001039731] |
Chr2:29228973 [GRCh38]
Chr2:29451839 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2401A>G (p.Ile801Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001212997] |
Chr2:29233651 [GRCh38]
Chr2:29456517 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1403G>A (p.Ser468Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001214237] |
Chr2:29328361 [GRCh38]
Chr2:29551227 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.457G>A (p.Gly153Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002339290]|Neuroblastoma, susceptibility to, 3 [RCV001058121] |
Chr2:29920203 [GRCh38]
Chr2:30143069 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1741G>T (p.Val581Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002400221]|Neuroblastoma, susceptibility to, 3 [RCV001037386] |
Chr2:29296964 [GRCh38]
Chr2:29519830 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2431G>A (p.Val811Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001037408] |
Chr2:29233621 [GRCh38]
Chr2:29456487 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.135C>A (p.Ser45Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001054398] |
Chr2:29920525 [GRCh38]
Chr2:30143391 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3111_3114del (p.Ser1038fs) |
microsatellite |
Neuroblastoma, susceptibility to, 3 [RCV001233239] |
Chr2:29225519..29225522 [GRCh38]
Chr2:29448385..29448388 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1502G>T (p.Trp501Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001215856] |
Chr2:29320795 [GRCh38]
Chr2:29543661 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2666T>C (p.Leu889Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002451487]|Neuroblastoma, susceptibility to, 3 [RCV001217186] |
Chr2:29229033 [GRCh38]
Chr2:29451899 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2487+6G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001230787] |
Chr2:29233559 [GRCh38]
Chr2:29456425 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.914A>G (p.Asp305Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003380806]|Neuroblastoma, susceptibility to, 3 [RCV001040363] |
Chr2:29694888 [GRCh38]
Chr2:29917754 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2667G>C (p.Leu889Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002436785]|Neuroblastoma, susceptibility to, 3 [RCV001204242] |
Chr2:29229032 [GRCh38]
Chr2:29451898 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1700T>G (p.Val567Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001215205] |
Chr2:29297005 [GRCh38]
Chr2:29519871 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3243C>A (p.Ser1081Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001218113] |
Chr2:29223458 [GRCh38]
Chr2:29446324 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2914+5C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001203964] |
Chr2:29227569 [GRCh38]
Chr2:29450435 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3646A>G (p.Ser1216Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002451492]|Neuroblastoma, susceptibility to, 3 [RCV001218163] |
Chr2:29214081 [GRCh38]
Chr2:29436947 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4078C>T (p.Arg1360Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002320348]|Neuroblastoma, susceptibility to, 3 [RCV001069663] |
Chr2:29196856 [GRCh38]
Chr2:29419722 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1547-6T>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001052073] |
Chr2:29318410 [GRCh38]
Chr2:29541276 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.1908C>G (p.Leu636=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002411647]|Neuroblastoma, susceptibility to, 3 [RCV001143781] |
Chr2:29275406 [GRCh38]
Chr2:29498272 [GRCh37]
Chr2:2p23.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004304.5(ALK):c.4340C>T (p.Thr1447Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001228482] |
Chr2:29193747 [GRCh38]
Chr2:29416613 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4860_*12del (p.Ter1621LeuextTer?) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001218167]|not provided [RCV003442779] |
Chr2:29193212..29193227 [GRCh38]
Chr2:29416078..29416093 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1291C>T (p.Pro431Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001235368] |
Chr2:29328473 [GRCh38]
Chr2:29551339 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1565G>A (p.Ser522Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003294116]|Neuroblastoma, susceptibility to, 3 [RCV001235395] |
Chr2:29318386 [GRCh38]
Chr2:29541252 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4709C>T (p.Pro1570Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001208084] |
Chr2:29193378 [GRCh38]
Chr2:29416244 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2350C>A (p.Pro784Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001207312] |
Chr2:29239685 [GRCh38]
Chr2:29462551 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.701C>T (p.Pro234Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001230703] |
Chr2:29717664 [GRCh38]
Chr2:29940530 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3988T>C (p.Tyr1330His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001230644] |
Chr2:29197627 [GRCh38]
Chr2:29420493 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2131A>G (p.Ser711Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001213282] |
Chr2:29251178 [GRCh38]
Chr2:29474044 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2000G>A (p.Gly667Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001230806] |
Chr2:29275140 [GRCh38]
Chr2:29498006 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3656C>T (p.Ser1219Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002451465]|Neuroblastoma, susceptibility to, 3 [RCV001213748] |
Chr2:29214071 [GRCh38]
Chr2:29436937 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.773A>G (p.His258Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001246985] |
Chr2:29717592 [GRCh38]
Chr2:29940458 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4442C>T (p.Ser1481Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002327563]|Neuroblastoma, susceptibility to, 3 [RCV001234147] |
Chr2:29193645 [GRCh38]
Chr2:29416511 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1237A>G (p.Ser413Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003160380]|Neuroblastoma, susceptibility to, 3 [RCV001048806] |
Chr2:29383777 [GRCh38]
Chr2:29606643 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2816-3C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001038353] |
Chr2:29227675 [GRCh38]
Chr2:29450541 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3359+1G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002320250]|Neuroblastoma, susceptibility to, 3 [RCV001041307] |
Chr2:29223341 [GRCh38]
Chr2:29446207 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4216G>A (p.Glu1406Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001214364] |
Chr2:29193871 [GRCh38]
Chr2:29416737 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.86C>T (p.Ala29Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001228368] |
Chr2:29920574 [GRCh38]
Chr2:30143440 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1414C>G (p.Arg472Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001246129] |
Chr2:29328350 [GRCh38]
Chr2:29551216 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.535C>T (p.Arg179Cys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001063934] |
Chr2:29920125 [GRCh38]
Chr2:30142991 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4196T>C (p.Ile1399Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002327341]|Neuroblastoma, susceptibility to, 3 [RCV001064088] |
Chr2:29193891 [GRCh38]
Chr2:29416757 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2527G>A (p.Gly843Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001064105] |
Chr2:29232409 [GRCh38]
Chr2:29455275 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4825C>G (p.Leu1609Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001023114] |
Chr2:29193262 [GRCh38]
Chr2:29416128 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3254C>A (p.Thr1085Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001211351] |
Chr2:29223447 [GRCh38]
Chr2:29446313 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2356A>C (p.Thr786Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001064323] |
Chr2:29233696 [GRCh38]
Chr2:29456562 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3306C>G (p.Thr1102=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001019840]|Neuroblastoma, susceptibility to, 3 [RCV002551821] |
Chr2:29223395 [GRCh38]
Chr2:29446261 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.340del (p.Ser114fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001064456] |
Chr2:29920320 [GRCh38]
Chr2:30143186 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3173T>C (p.Val1058Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002320326]|Neuroblastoma, susceptibility to, 3 [RCV001064492]|not provided [RCV003238297] |
Chr2:29223528 [GRCh38]
Chr2:29446394 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2076G>C (p.Gly692=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014340]|Neuroblastoma, susceptibility to, 3 [RCV002068883] |
Chr2:29251233 [GRCh38]
Chr2:29474099 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2980G>A (p.Glu994Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001071900] |
Chr2:29227009 [GRCh38]
Chr2:29449875 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.52G>C (p.Ala18Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003163613]|Neuroblastoma, susceptibility to, 3 [RCV001212607] |
Chr2:29920608 [GRCh38]
Chr2:30143474 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1671T>A (p.Arg557=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001202438] |
Chr2:29297034 [GRCh38]
Chr2:29519900 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2929G>A (p.Gly977Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001036466] |
Chr2:29227060 [GRCh38]
Chr2:29449926 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.44C>T (p.Ser15Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001036609] |
Chr2:29920616 [GRCh38]
Chr2:30143482 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.*403T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001136890] |
Chr2:29192821 [GRCh38]
Chr2:29415687 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.*246G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001136891] |
Chr2:29192978 [GRCh38]
Chr2:29415844 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2445A>C (p.Ala815=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001015568] |
Chr2:29233607 [GRCh38]
Chr2:29456473 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4594A>G (p.Asn1532Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001051233] |
Chr2:29193493 [GRCh38]
Chr2:29416359 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3170T>C (p.Ile1057Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002258112]|Neuroblastoma, susceptibility to, 3 [RCV001055341] |
Chr2:29225463 [GRCh38]
Chr2:29448329 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2775A>G (p.Gly925=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002436719]|Neuroblastoma, susceptibility to, 3 [RCV001137109] |
Chr2:29228924 [GRCh38]
Chr2:29451790 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| NM_004304.5(ALK):c.224C>A (p.Pro75Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001137336] |
Chr2:29920436 [GRCh38]
Chr2:30143302 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4775C>T (p.Pro1592Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002339258]|Neuroblastoma, susceptibility to, 3 [RCV001051478] |
Chr2:29193312 [GRCh38]
Chr2:29416178 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1913-3C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001055541] |
Chr2:29275230 [GRCh38]
Chr2:29498096 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.983A>G (p.Asp328Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002379501]|Neuroblastoma, susceptibility to, 3 [RCV001041296] |
Chr2:29532086 [GRCh38]
Chr2:29754952 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4701G>C (p.Lys1567Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001041313] |
Chr2:29193386 [GRCh38]
Chr2:29416252 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1516C>G (p.Leu506Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002391120]|Neuroblastoma, susceptibility to, 3 [RCV001041376] |
Chr2:29320781 [GRCh38]
Chr2:29543647 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.-830C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001137449] |
Chr2:29921489 [GRCh38]
Chr2:30144355 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.-922C>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001137451] |
Chr2:29921581 [GRCh38]
Chr2:30144447 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1500A>C (p.Gln500His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001213323] |
Chr2:29320797 [GRCh38]
Chr2:29543663 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2569C>T (p.His857Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002451404]|Neuroblastoma, susceptibility to, 3 [RCV001232680]|not specified [RCV001193822] |
Chr2:29232367 [GRCh38]
Chr2:29455233 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.-539G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001142188] |
Chr2:29921198 [GRCh38]
Chr2:30144064 [GRCh37]
Chr2:2p23.1 |
benign |
| NM_004304.5(ALK):c.-677G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001142191] |
Chr2:29921336 [GRCh38]
Chr2:30144202 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.-2G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001017949] |
Chr2:29920661 [GRCh38]
Chr2:30143527 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1440C>A (p.Cys480Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001229422] |
Chr2:29320857 [GRCh38]
Chr2:29543723 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4164G>C (p.Gln1388His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002258121]|Neuroblastoma, susceptibility to, 3 [RCV001062772] |
Chr2:29196770 [GRCh38]
Chr2:29419636 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.163G>T (p.Ala55Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001062930] |
Chr2:29920497 [GRCh38]
Chr2:30143363 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3065T>C (p.Ile1022Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003353139]|Neuroblastoma, susceptibility to, 3 [RCV001062950] |
Chr2:29226924 [GRCh38]
Chr2:29449790 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.-61C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001139570] |
Chr2:29920720 [GRCh38]
Chr2:30143586 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.627C>G (p.Arg209=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001025074]|Neuroblastoma, susceptibility to, 3 [RCV001497112] |
Chr2:29920033 [GRCh38]
Chr2:30142899 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1931T>G (p.Ile644Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002411744]|Neuroblastoma, susceptibility to, 3 [RCV001203562] |
Chr2:29275209 [GRCh38]
Chr2:29498075 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4690G>A (p.Ala1564Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001063049] |
Chr2:29193397 [GRCh38]
Chr2:29416263 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2461G>A (p.Gly821Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001063139] |
Chr2:29233591 [GRCh38]
Chr2:29456457 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2243A>G (p.Lys748Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001204289] |
Chr2:29239792 [GRCh38]
Chr2:29462658 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1396G>A (p.Asp466Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001048508] |
Chr2:29328368 [GRCh38]
Chr2:29551234 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2434C>G (p.His812Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002451234]|Neuroblastoma, susceptibility to, 3 [RCV001057014] |
Chr2:29233618 [GRCh38]
Chr2:29456484 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1870G>C (p.Ala624Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001215909] |
Chr2:29275444 [GRCh38]
Chr2:29498310 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.463G>C (p.Val155Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002339313]|Neuroblastoma, susceptibility to, 3 [RCV001063231] |
Chr2:29920197 [GRCh38]
Chr2:30143063 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4312C>A (p.Pro1438Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003307903]|Neuroblastoma, susceptibility to, 3 [RCV001063382] |
Chr2:29193775 [GRCh38]
Chr2:29416641 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4832G>T (p.Ser1611Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001214755] |
Chr2:29193255 [GRCh38]
Chr2:29416121 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.-376G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001140336] |
Chr2:29921035 [GRCh38]
Chr2:30143901 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1641A>T (p.Pro547=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012539] |
Chr2:29318310 [GRCh38]
Chr2:29541176 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4606G>C (p.Glu1536Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001070684] |
Chr2:29193481 [GRCh38]
Chr2:29416347 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1740G>A (p.Met580Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002409376]|Neuroblastoma, susceptibility to, 3 [RCV001038388] |
Chr2:29296965 [GRCh38]
Chr2:29519831 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3569T>C (p.Leu1190Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001053220] |
Chr2:29220782 [GRCh38]
Chr2:29443648 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2099A>G (p.Gln700Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001215442] |
Chr2:29251210 [GRCh38]
Chr2:29474076 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3553G>T (p.Val1185Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002451472]|Neuroblastoma, susceptibility to, 3 [RCV001215507] |
Chr2:29220798 [GRCh38]
Chr2:29443664 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2764G>A (p.Gly922Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001063471] |
Chr2:29228935 [GRCh38]
Chr2:29451801 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4717A>G (p.Arg1573Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002339314]|Neuroblastoma, susceptibility to, 3 [RCV001063599] |
Chr2:29193370 [GRCh38]
Chr2:29416236 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4311C>A (p.Ser1437Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002327366]|Neuroblastoma, susceptibility to, 3 [RCV001070820] |
Chr2:29193776 [GRCh38]
Chr2:29416642 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1114G>C (p.Ala372Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001211092] |
Chr2:29531955 [GRCh38]
Chr2:29754821 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4852C>T (p.Pro1618Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002339318]|Neuroblastoma, susceptibility to, 3 [RCV001063753] |
Chr2:29193235 [GRCh38]
Chr2:29416101 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1511G>A (p.Arg504Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002393311]|Neuroblastoma, susceptibility to, 3 [RCV001063797] |
Chr2:29320786 [GRCh38]
Chr2:29543652 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3776G>A (p.Cys1259Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002348456]|Neuroblastoma, susceptibility to, 3 [RCV001063831] |
Chr2:29209846 [GRCh38]
Chr2:29432712 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1235G>T (p.Arg412Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002365750]|Neuroblastoma, susceptibility to, 3 [RCV001063851] |
Chr2:29383779 [GRCh38]
Chr2:29606645 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.888G>A (p.Glu296=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001063891] |
Chr2:29694914 [GRCh38]
Chr2:29917780 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.4099C>A (p.Gln1367Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002259091]|Neuroblastoma, susceptibility to, 3 [RCV001214191] |
Chr2:29196835 [GRCh38]
Chr2:29419701 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3451-35TCC[3] |
microsatellite |
Squamous cell lung carcinoma [RCV001250962] |
Chr2:29222432..29222434 [GRCh38]
Chr2:29445298..29445300 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4165-19del |
deletion |
Squamous cell lung carcinoma [RCV001250960] |
Chr2:29193941 [GRCh38]
Chr2:29416807 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3359+24G>C |
single nucleotide variant |
Squamous cell lung carcinoma [RCV001250963]|not provided [RCV001673010] |
Chr2:29223318 [GRCh38]
Chr2:29446184 [GRCh37]
Chr2:2p23.2 |
benign|uncertain significance |
| NM_004304.5(ALK):c.4298_4299del (p.Glu1433fs) |
deletion |
Rhabdomyosarcoma [RCV001257557] |
Chr2:29193788..29193789 [GRCh38]
Chr2:29416654..29416655 [GRCh37]
Chr2:2p23.2 |
likely pathogenic |
| NM_004304.5(ALK):c.158G>A (p.Ser53Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003294371]|Neuroblastoma, susceptibility to, 3 [RCV001349739] |
Chr2:29920502 [GRCh38]
Chr2:30143368 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.26T>G (p.Leu9Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002431982]|Neuroblastoma, susceptibility to, 3 [RCV001348592] |
Chr2:29920634 [GRCh38]
Chr2:30143500 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3380T>C (p.Phe1127Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002454610]|Neuroblastoma, susceptibility to, 3 [RCV003096312]|not provided [RCV002280415] |
Chr2:29222587 [GRCh38]
Chr2:29445453 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.474dup (p.Gly159fs) |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV001304304] |
Chr2:29920185..29920186 [GRCh38]
Chr2:30143051..30143052 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3587T>C (p.Leu1196Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001294810] |
Chr2:29220764 [GRCh38]
Chr2:29443630 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1552G>C (p.Ala518Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001295238] |
Chr2:29318399 [GRCh38]
Chr2:29541265 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3563A>G (p.Gln1188Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001324700] |
Chr2:29220788 [GRCh38]
Chr2:29443654 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1663C>T (p.Leu555Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002395713]|Neuroblastoma, susceptibility to, 3 [RCV001324710] |
Chr2:29297042 [GRCh38]
Chr2:29519908 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.776G>C (p.Arg259Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001324567] |
Chr2:29717589 [GRCh38]
Chr2:29940455 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1289C>A (p.Ser430Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002384488]|Neuroblastoma, susceptibility to, 3 [RCV001350201] |
Chr2:29328475 [GRCh38]
Chr2:29551341 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4357G>T (p.Ala1453Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001889095] |
Chr2:29193730 [GRCh38]
Chr2:29416596 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1882A>G (p.Ile628Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002411996]|Neuroblastoma, susceptibility to, 3 [RCV001312627] |
Chr2:29275432 [GRCh38]
Chr2:29498298 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1150C>T (p.His384Tyr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001303169] |
Chr2:29531919 [GRCh38]
Chr2:29754785 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2710C>T (p.His904Tyr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001303281]|not provided [RCV003236890] |
Chr2:29228989 [GRCh38]
Chr2:29451855 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4499C>T (p.Thr1500Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003355416]|Neuroblastoma, susceptibility to, 3 [RCV001348935] |
Chr2:29193588 [GRCh38]
Chr2:29416454 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| GRCh37/hg19 2p23.2(chr2:29363817-29675766)x1 |
copy number loss |
not provided [RCV001259152] |
Chr2:29363817..29675766 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2904A>G (p.Pro968=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002436978]|Neuroblastoma, susceptibility to, 3 [RCV001474577] |
Chr2:29227584 [GRCh38]
Chr2:29450450 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NC_000002.11:g.(?_29416084)_(29754988_?)dup |
duplication |
Neuroblastoma 3 [RCV001319699] |
Chr2:29416084..29754988 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.772C>T (p.His258Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002402835]|Neuroblastoma, susceptibility to, 3 [RCV001300324] |
Chr2:29717593 [GRCh38]
Chr2:29940459 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2965C>T (p.His989Tyr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001308118] |
Chr2:29227024 [GRCh38]
Chr2:29449890 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NC_000002.11:g.(?_29940434)_(29940573_?)del |
deletion |
Neuroblastoma 3 [RCV001304728] |
Chr2:29940434..29940573 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NC_000002.11:g.(?_30143165)_30144434del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001304732] |
|
uncertain significance |
| NM_004304.5(ALK):c.1103A>T (p.His368Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003294196]|Neuroblastoma, susceptibility to, 3 [RCV001295291] |
Chr2:29531966 [GRCh38]
Chr2:29754832 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1446T>G (p.Phe482Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001350980] |
Chr2:29320851 [GRCh38]
Chr2:29543717 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4783G>T (p.Ala1595Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001338687] |
Chr2:29193304 [GRCh38]
Chr2:29416170 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4357G>A (p.Ala1453Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002329280]|Neuroblastoma, susceptibility to, 3 [RCV001319261] |
Chr2:29193730 [GRCh38]
Chr2:29416596 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2755G>T (p.Gly919Trp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001295670] |
Chr2:29228944 [GRCh38]
Chr2:29451810 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4589G>T (p.Arg1530Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001317471] |
Chr2:29193498 [GRCh38]
Chr2:29416364 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2564C>T (p.Thr855Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001308457] |
Chr2:29232372 [GRCh38]
Chr2:29455238 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1703T>C (p.Leu568Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001341419] |
Chr2:29297002 [GRCh38]
Chr2:29519868 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3359G>A (p.Arg1120Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002322213]|Neuroblastoma, susceptibility to, 3 [RCV001308635] |
Chr2:29223342 [GRCh38]
Chr2:29446208 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.83G>A (p.Arg28His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001327171] |
Chr2:29920577 [GRCh38]
Chr2:30143443 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1249del (p.Val417fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001299147] |
Chr2:29383765 [GRCh38]
Chr2:29606631 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1669C>T (p.Arg557Cys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001325194] |
Chr2:29297036 [GRCh38]
Chr2:29519902 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1718C>A (p.Thr573Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001314695] |
Chr2:29296987 [GRCh38]
Chr2:29519853 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3937T>C (p.Trp1313Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001299259] |
Chr2:29207172 [GRCh38]
Chr2:29430038 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1766G>T (p.Gly589Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003365316]|Neuroblastoma, susceptibility to, 3 [RCV001306160] |
Chr2:29296939 [GRCh38]
Chr2:29519805 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3140C>G (p.Ala1047Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001308277] |
Chr2:29225493 [GRCh38]
Chr2:29448359 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.514G>A (p.Glu172Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001325701] |
Chr2:29920146 [GRCh38]
Chr2:30143012 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2129T>G (p.Leu710Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001296742] |
Chr2:29251180 [GRCh38]
Chr2:29474046 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3163A>T (p.Ile1055Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001351688] |
Chr2:29225470 [GRCh38]
Chr2:29448336 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3310T>A (p.Ser1104Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001301635] |
Chr2:29223391 [GRCh38]
Chr2:29446257 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1027G>A (p.Glu343Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001298401] |
Chr2:29532042 [GRCh38]
Chr2:29754908 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.668-3C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001343169] |
Chr2:29717700 [GRCh38]
Chr2:29940566 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2144G>A (p.Gly715Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002430088]|Neuroblastoma, susceptibility to, 3 [RCV001297094] |
Chr2:29251165 [GRCh38]
Chr2:29474031 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3464T>C (p.Val1155Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001339919] |
Chr2:29222395 [GRCh38]
Chr2:29445261 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4247A>C (p.Lys1416Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002329261]|Neuroblastoma, susceptibility to, 3 [RCV001313428] |
Chr2:29193840 [GRCh38]
Chr2:29416706 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2599G>A (p.Val867Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002430122]|Neuroblastoma, susceptibility to, 3 [RCV001309482] |
Chr2:29232337 [GRCh38]
Chr2:29455203 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.110C>T (p.Pro37Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001309484] |
Chr2:29920550 [GRCh38]
Chr2:30143416 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3712_3715del (p.Gln1238fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV003294267]|Neuroblastoma, susceptibility to, 3 [RCV001315854] |
Chr2:29214012..29214015 [GRCh38]
Chr2:29436878..29436881 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4483T>A (p.Ser1495Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001299355] |
Chr2:29193604 [GRCh38]
Chr2:29416470 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1690G>C (p.Val564Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002402846]|Neuroblastoma, susceptibility to, 3 [RCV001303107] |
Chr2:29297015 [GRCh38]
Chr2:29519881 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3836+5G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002357202]|Neuroblastoma, susceptibility to, 3 [RCV001349764] |
Chr2:29209781 [GRCh38]
Chr2:29432647 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3420C>G (p.Asn1140Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001349780] |
Chr2:29222547 [GRCh38]
Chr2:29445413 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1825C>G (p.Leu609Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002411953]|Neuroblastoma, susceptibility to, 3 [RCV001299634] |
Chr2:29275489 [GRCh38]
Chr2:29498355 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4181A>T (p.Asn1394Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001340285] |
Chr2:29193906 [GRCh38]
Chr2:29416772 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3938+3A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001302115] |
Chr2:29207168 [GRCh38]
Chr2:29430034 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4666C>T (p.Leu1556Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001351511] |
Chr2:29193421 [GRCh38]
Chr2:29416287 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1351C>G (p.Leu451Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001340966] |
Chr2:29328413 [GRCh38]
Chr2:29551279 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1346T>G (p.Leu449Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001321627] |
Chr2:29328418 [GRCh38]
Chr2:29551284 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3067+9G>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001299727] |
Chr2:29226913 [GRCh38]
Chr2:29449779 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.4592G>A (p.Gly1531Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001340376] |
Chr2:29193495 [GRCh38]
Chr2:29416361 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4109C>T (p.Pro1370Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002322233]|Neuroblastoma, susceptibility to, 3 [RCV001318313] |
Chr2:29196825 [GRCh38]
Chr2:29419691 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4652C>T (p.Pro1551Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002327663]|Neuroblastoma, susceptibility to, 3 [RCV001303772] |
Chr2:29193435 [GRCh38]
Chr2:29416301 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.487G>A (p.Val163Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001303811] |
Chr2:29920173 [GRCh38]
Chr2:30143039 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3101C>G (p.Ser1034Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003166638]|Neuroblastoma, susceptibility to, 3 [RCV001295020] |
Chr2:29225532 [GRCh38]
Chr2:29448398 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2353A>G (p.Ser785Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001337443] |
Chr2:29239682 [GRCh38]
Chr2:29462548 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1155-9T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001307249] |
Chr2:29383868 [GRCh38]
Chr2:29606734 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.4565del (p.Ile1522fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001349489] |
Chr2:29193522 [GRCh38]
Chr2:29416388 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4826T>C (p.Leu1609Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002327664]|Neuroblastoma, susceptibility to, 3 [RCV001304021] |
Chr2:29193261 [GRCh38]
Chr2:29416127 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2168T>C (p.Ile723Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001337556] |
Chr2:29251141 [GRCh38]
Chr2:29474007 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.344C>G (p.Pro115Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001315493] |
Chr2:29920316 [GRCh38]
Chr2:30143182 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4380_4381delinsAG (p.Ile1461Val) |
indel |
Neuroblastoma, susceptibility to, 3 [RCV001351833] |
Chr2:29193706..29193707 [GRCh38]
Chr2:29416572..29416573 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2281G>A (p.Gly761Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001304655] |
Chr2:29239754 [GRCh38]
Chr2:29462620 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1262C>A (p.Ala421Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001306399] |
Chr2:29383752 [GRCh38]
Chr2:29606618 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.322G>A (p.Val108Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002322235]|Neuroblastoma, susceptibility to, 3 [RCV001318754] |
Chr2:29920338 [GRCh38]
Chr2:30143204 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3154T>G (p.Phe1052Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001297043] |
Chr2:29225479 [GRCh38]
Chr2:29448345 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.477G>C (p.Gly159=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002341946]|Neuroblastoma, susceptibility to, 3 [RCV001434078] |
Chr2:29920183 [GRCh38]
Chr2:30143049 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.670C>T (p.His224Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003294266]|Neuroblastoma, susceptibility to, 3 [RCV001315780] |
Chr2:29717695 [GRCh38]
Chr2:29940561 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2323G>T (p.Val775Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003166674]|Neuroblastoma, susceptibility to, 3 [RCV001298473] |
Chr2:29239712 [GRCh38]
Chr2:29462578 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1571C>G (p.Thr524Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001308015] |
Chr2:29318380 [GRCh38]
Chr2:29541246 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1747C>T (p.His583Tyr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001327905] |
Chr2:29296958 [GRCh38]
Chr2:29519824 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3757_3766del (p.Arg1253fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001295149] |
Chr2:29209856..29209865 [GRCh38]
Chr2:29432722..29432731 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3173-6del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001372287] |
Chr2:29223534 [GRCh38]
Chr2:29446400 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.104G>A (p.Gly35Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002404887]|Neuroblastoma, susceptibility to, 3 [RCV001372289] |
Chr2:29920556 [GRCh38]
Chr2:30143422 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4592G>T (p.Gly1531Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001361482] |
Chr2:29193495 [GRCh38]
Chr2:29416361 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4560_4577dup (p.Lys1525_Glu1526insAspProIleAlaLysLys) |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV001350234] |
Chr2:29193509..29193510 [GRCh38]
Chr2:29416375..29416376 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1634G>A (p.Ser545Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002259101]|Neuroblastoma, susceptibility to, 3 [RCV001297471] |
Chr2:29318317 [GRCh38]
Chr2:29541183 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2738G>A (p.Trp913Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001372422] |
Chr2:29228961 [GRCh38]
Chr2:29451827 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4594A>T (p.Asn1532Tyr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001305205] |
Chr2:29193493 [GRCh38]
Chr2:29416359 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.387C>T (p.Gly129=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002368291]|Neuroblastoma, susceptibility to, 3 [RCV001412630] |
Chr2:29920273 [GRCh38]
Chr2:30143139 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1978C>G (p.Pro660Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002420849]|Neuroblastoma, susceptibility to, 3 [RCV001374231] |
Chr2:29275162 [GRCh38]
Chr2:29498028 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1680G>A (p.Leu560=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002413924]|Neuroblastoma, susceptibility to, 3 [RCV001391957] |
Chr2:29297025 [GRCh38]
Chr2:29519891 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2583G>C (p.Leu861=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001392142] |
Chr2:29232353 [GRCh38]
Chr2:29455219 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2862T>C (p.Asp954=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003298636]|Neuroblastoma, susceptibility to, 3 [RCV001392258] |
Chr2:29227626 [GRCh38]
Chr2:29450492 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3116T>C (p.Val1039Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002322324]|Neuroblastoma, susceptibility to, 3 [RCV001361845] |
Chr2:29225517 [GRCh38]
Chr2:29448383 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.332C>T (p.Thr111Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001367893] |
Chr2:29920328 [GRCh38]
Chr2:30143194 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2575G>A (p.Glu859Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002432036]|Neuroblastoma, susceptibility to, 3 [RCV001368287] |
Chr2:29232361 [GRCh38]
Chr2:29455227 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4531T>A (p.Phe1511Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001368686] |
Chr2:29193556 [GRCh38]
Chr2:29416422 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2313G>A (p.Leu771=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002449082]|Neuroblastoma, susceptibility to, 3 [RCV001392181] |
Chr2:29239722 [GRCh38]
Chr2:29462588 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3090C>A (p.His1030Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003169880]|Neuroblastoma, susceptibility to, 3 [RCV001368404] |
Chr2:29225543 [GRCh38]
Chr2:29448409 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.425_430dup (p.Val142_Leu143dup) |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV001368951] |
Chr2:29920229..29920230 [GRCh38]
Chr2:30143095..30143096 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4512C>T (p.Asn1504=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002341850]|Neuroblastoma, susceptibility to, 3 [RCV001396642] |
Chr2:29193575 [GRCh38]
Chr2:29416441 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1648-7C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001392294] |
Chr2:29297064 [GRCh38]
Chr2:29519930 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4649T>C (p.Leu1550Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001296209] |
Chr2:29193438 [GRCh38]
Chr2:29416304 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4729T>C (p.Phe1577Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002341586]|Neuroblastoma, susceptibility to, 3 [RCV001298111] |
Chr2:29193358 [GRCh38]
Chr2:29416224 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4378G>A (p.Glu1460Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001359565] |
Chr2:29193709 [GRCh38]
Chr2:29416575 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.952+1G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001292663]|not provided [RCV003442824] |
Chr2:29694849 [GRCh38]
Chr2:29917715 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4692C>T (p.Ala1564=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002341836]|Neuroblastoma, susceptibility to, 3 [RCV001392200] |
Chr2:29193395 [GRCh38]
Chr2:29416261 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3168G>A (p.Met1056Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001316842] |
Chr2:29225465 [GRCh38]
Chr2:29448331 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4677del (p.Ser1560fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001370553] |
Chr2:29193410 [GRCh38]
Chr2:29416276 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.307G>A (p.Gly103Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001368945] |
Chr2:29920353 [GRCh38]
Chr2:30143219 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2505G>T (p.Pro835=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003169963]|Neuroblastoma, susceptibility to, 3 [RCV001395699] |
Chr2:29232431 [GRCh38]
Chr2:29455297 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1210C>T (p.Leu404=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002358923]|Neuroblastoma, susceptibility to, 3 [RCV001413499] |
Chr2:29383804 [GRCh38]
Chr2:29606670 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4226_4231del (p.Glu1409_Lys1410del) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001307818] |
Chr2:29193856..29193861 [GRCh38]
Chr2:29416722..29416727 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4460C>T (p.Ser1487Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001370719] |
Chr2:29193627 [GRCh38]
Chr2:29416493 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4074-13CTT[2] |
microsatellite |
Neuroblastoma, susceptibility to, 3 [RCV001370799]|not provided [RCV003332334] |
Chr2:29196865..29196867 [GRCh38]
Chr2:29419731..29419733 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.348C>T (p.Ala116=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002258226]|Neuroblastoma, susceptibility to, 3 [RCV001395882] |
Chr2:29920312 [GRCh38]
Chr2:30143178 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1923G>T (p.Glu641Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001348404] |
Chr2:29275217 [GRCh38]
Chr2:29498083 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3981T>G (p.Tyr1327Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001313444] |
Chr2:29197634 [GRCh38]
Chr2:29420500 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2204+8T>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001359997] |
Chr2:29251097 [GRCh38]
Chr2:29473963 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.4199A>C (p.Glu1400Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002329354]|Neuroblastoma, susceptibility to, 3 [RCV001360000] |
Chr2:29193888 [GRCh38]
Chr2:29416754 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1887C>T (p.Ser629=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002413986]|Neuroblastoma, susceptibility to, 3 [RCV001413899] |
Chr2:29275427 [GRCh38]
Chr2:29498293 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4011A>G (p.Glu1337=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001415301] |
Chr2:29197604 [GRCh38]
Chr2:29420470 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1589A>G (p.Glu530Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001304354] |
Chr2:29318362 [GRCh38]
Chr2:29541228 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2993A>C (p.Asp998Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001312734] |
Chr2:29226996 [GRCh38]
Chr2:29449862 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3743+3G>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001303648] |
Chr2:29213981 [GRCh38]
Chr2:29436847 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4286A>C (p.Gln1429Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002329364]|Neuroblastoma, susceptibility to, 3 [RCV001362508] |
Chr2:29193801 [GRCh38]
Chr2:29416667 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2488-8C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001422820] |
Chr2:29232456 [GRCh38]
Chr2:29455322 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2670C>G (p.Leu890=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003346551]|Neuroblastoma, susceptibility to, 3 [RCV001423133] |
Chr2:29229029 [GRCh38]
Chr2:29451895 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1415-4A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001433980] |
Chr2:29320886 [GRCh38]
Chr2:29543752 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2881C>G (p.Pro961Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001303790] |
Chr2:29227607 [GRCh38]
Chr2:29450473 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2657A>T (p.Asn886Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001312929] |
Chr2:29229042 [GRCh38]
Chr2:29451908 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.146T>G (p.Leu49Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003346505]|Neuroblastoma, susceptibility to, 3 [RCV001349364] |
Chr2:29920514 [GRCh38]
Chr2:30143380 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.916G>A (p.Gly306Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001294928] |
Chr2:29694886 [GRCh38]
Chr2:29917752 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4294C>T (p.Arg1432Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003169908]|Neuroblastoma, susceptibility to, 3 [RCV001371596] |
Chr2:29193793 [GRCh38]
Chr2:29416659 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4249G>C (p.Asp1417His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002329362]|Neuroblastoma, susceptibility to, 3 [RCV001362008] |
Chr2:29193838 [GRCh38]
Chr2:29416704 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4844T>C (p.Met1615Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001304415] |
Chr2:29193243 [GRCh38]
Chr2:29416109 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1426G>A (p.Val476Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002395853]|Neuroblastoma, susceptibility to, 3 [RCV001373577] |
Chr2:29320871 [GRCh38]
Chr2:29543737 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2080C>T (p.His694Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002420763]|Neuroblastoma, susceptibility to, 3 [RCV001351722] |
Chr2:29251229 [GRCh38]
Chr2:29474095 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1734C>T (p.Gly578=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001294931] |
Chr2:29296971 [GRCh38]
Chr2:29519837 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NC_000002.11:g.(?_30142849)_(30143525_?)del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001362810] |
Chr2:30142849..30143525 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NC_000002.11:g.(?_29119585)_(30143525_?)dup |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV001362811] |
Chr2:29119585..30143525 [GRCh37]
Chr2:2p23.2-23.1 |
uncertain significance |
| NC_000002.11:g.(?_29119585)_(29450548_?)dup |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV001362812] |
Chr2:29119585..29450548 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NC_000002.11:g.(?_29917706)_(29940573_?)dup |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV001304731] |
Chr2:29917706..29940573 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.989A>G (p.Lys330Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001361166] |
Chr2:29532080 [GRCh38]
Chr2:29754946 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.193C>T (p.Arg65Cys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001373863] |
Chr2:29920467 [GRCh38]
Chr2:30143333 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3688G>A (p.Ala1230Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002451669]|Neuroblastoma, susceptibility to, 3 [RCV001301339] |
Chr2:29214039 [GRCh38]
Chr2:29436905 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1389G>C (p.Gln463His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002395744]|Neuroblastoma, susceptibility to, 3 [RCV001341888] |
Chr2:29328375 [GRCh38]
Chr2:29551241 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4706T>C (p.Val1569Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001343451] |
Chr2:29193381 [GRCh38]
Chr2:29416247 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2077C>A (p.Pro693Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001345682] |
Chr2:29251232 [GRCh38]
Chr2:29474098 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1387del (p.Gln463fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001364035] |
Chr2:29328377 [GRCh38]
Chr2:29551243 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.107C>G (p.Pro36Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001364672] |
Chr2:29920553 [GRCh38]
Chr2:30143419 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.844G>A (p.Asp282Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001303019] |
Chr2:29694958 [GRCh38]
Chr2:29917824 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| PRRC2B-ALK fusion |
translocation |
epithelioid tumor of the omentum [RCV001310282] |
Chr9:9q34.13 |
other |
| NM_004304.5(ALK):c.439G>A (p.Glu147Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002327685]|Neuroblastoma, susceptibility to, 3 [RCV001308574] |
Chr2:29920221 [GRCh38]
Chr2:30143087 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4630A>C (p.Asn1544His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001317667] |
Chr2:29193457 [GRCh38]
Chr2:29416323 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3406T>G (p.Ser1136Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002456437]|Neuroblastoma, susceptibility to, 3 [RCV001321553] |
Chr2:29222561 [GRCh38]
Chr2:29445427 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2824G>A (p.Ala942Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003166884]|Neuroblastoma, susceptibility to, 3 [RCV001322823]|not provided [RCV003318681] |
Chr2:29227664 [GRCh38]
Chr2:29450530 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1432T>A (p.Phe478Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001345695]|not provided [RCV003332326] |
Chr2:29320865 [GRCh38]
Chr2:29543731 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3005A>C (p.His1002Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002438739]|Neuroblastoma, susceptibility to, 3 [RCV001323855] |
Chr2:29226984 [GRCh38]
Chr2:29449850 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4657G>T (p.Ala1553Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001346491] |
Chr2:29193430 [GRCh38]
Chr2:29416296 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4322C>T (p.Pro1441Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001371133] |
Chr2:29193765 [GRCh38]
Chr2:29416631 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.587C>T (p.Ser196Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002357265]|Neuroblastoma, susceptibility to, 3 [RCV001371180] |
Chr2:29920073 [GRCh38]
Chr2:30142939 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.695A>C (p.Asn232Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002368163]|Neuroblastoma, susceptibility to, 3 [RCV001360259] |
Chr2:29717670 [GRCh38]
Chr2:29940536 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3445G>C (p.Val1149Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001373679] |
Chr2:29222522 [GRCh38]
Chr2:29445388 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4112A>G (p.Glu1371Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001369349] |
Chr2:29196822 [GRCh38]
Chr2:29419688 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2260T>A (p.Ser754Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001364782] |
Chr2:29239775 [GRCh38]
Chr2:29462641 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3653C>G (p.Pro1218Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001303272] |
Chr2:29214074 [GRCh38]
Chr2:29436940 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1375C>G (p.Gln459Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001299091]|Ovarian cancer [RCV003153974] |
Chr2:29328389 [GRCh38]
Chr2:29551255 [GRCh37]
Chr2:2p23.2 |
benign|uncertain significance |
| NM_004304.5(ALK):c.2286C>G (p.Ile762Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001308633] |
Chr2:29239749 [GRCh38]
Chr2:29462615 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2488-6G>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001301481] |
Chr2:29232454 [GRCh38]
Chr2:29455320 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1229G>A (p.Gly410Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001322910]|not provided [RCV001786473] |
Chr2:29383785 [GRCh38]
Chr2:29606651 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.74C>A (p.Thr25Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002395711]|Neuroblastoma, susceptibility to, 3 [RCV001323947] |
Chr2:29920586 [GRCh38]
Chr2:30143452 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4341dup (p.Ser1448fs) |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV001364918] |
Chr2:29193745..29193746 [GRCh38]
Chr2:29416611..29416612 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3902del (p.Phe1301fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002357111]|Neuroblastoma, susceptibility to, 3 [RCV001306528] |
Chr2:29207207 [GRCh38]
Chr2:29430073 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1009T>C (p.Trp337Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002258206]|Neuroblastoma, susceptibility to, 3 [RCV001337777] |
Chr2:29532060 [GRCh38]
Chr2:29754926 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4697T>C (p.Met1566Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002341688]|Neuroblastoma, susceptibility to, 3 [RCV001337809] |
Chr2:29193390 [GRCh38]
Chr2:29416256 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4306C>T (p.Arg1436Cys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001344861] |
Chr2:29193781 [GRCh38]
Chr2:29416647 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3014T>C (p.Ile1005Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003294357]|Neuroblastoma, susceptibility to, 3 [RCV001344871] |
Chr2:29226975 [GRCh38]
Chr2:29449841 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2270T>C (p.Val757Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001371516] |
Chr2:29239765 [GRCh38]
Chr2:29462631 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2552C>A (p.Ala851Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001371612] |
Chr2:29232384 [GRCh38]
Chr2:29455250 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.336C>A (p.Ala112=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002456576]|Neuroblastoma, susceptibility to, 3 [RCV001369868] |
Chr2:29920324 [GRCh38]
Chr2:30143190 [GRCh37]
Chr2:2p23.1 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.2032G>T (p.Asp678Tyr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001299235] |
Chr2:29275108 [GRCh38]
Chr2:29497974 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4109C>G (p.Pro1370Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001300242] |
Chr2:29196825 [GRCh38]
Chr2:29419691 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4610G>C (p.Gly1537Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001360928] |
Chr2:29193477 [GRCh38]
Chr2:29416343 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4566A>G (p.Ile1522Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001365135] |
Chr2:29193521 [GRCh38]
Chr2:29416387 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1021A>G (p.Ser341Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001365151] |
Chr2:29532048 [GRCh38]
Chr2:29754914 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2359A>G (p.Asn787Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001309792] |
Chr2:29233693 [GRCh38]
Chr2:29456559 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1163T>A (p.Val388Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001320373] |
Chr2:29383851 [GRCh38]
Chr2:29606717 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2155C>T (p.Pro719Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001321960]|not provided [RCV001751620] |
Chr2:29251154 [GRCh38]
Chr2:29474020 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1728G>T (p.Glu576Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002412091]|Neuroblastoma, susceptibility to, 3 [RCV001346918] |
Chr2:29296977 [GRCh38]
Chr2:29519843 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4487G>A (p.Arg1496Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001371886]|not specified [RCV002246345] |
Chr2:29193600 [GRCh38]
Chr2:29416466 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1690G>A (p.Val564Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002413854]|Neuroblastoma, susceptibility to, 3 [RCV001361107] |
Chr2:29297015 [GRCh38]
Chr2:29519881 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4295G>C (p.Arg1432Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001361184] |
Chr2:29193792 [GRCh38]
Chr2:29416658 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2207T>C (p.Ile736Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001373882] |
Chr2:29239828 [GRCh38]
Chr2:29462694 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.825G>T (p.Glu275Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001337997] |
Chr2:29694977 [GRCh38]
Chr2:29917843 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.892G>T (p.Ala298Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002447336]|Neuroblastoma, susceptibility to, 3 [RCV001315910] |
Chr2:29694910 [GRCh38]
Chr2:29917776 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1118G>T (p.Arg373Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001297348] |
Chr2:29531951 [GRCh38]
Chr2:29754817 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.944T>C (p.Met315Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001342416] |
Chr2:29694858 [GRCh38]
Chr2:29917724 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3173-3C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001346049] |
Chr2:29223531 [GRCh38]
Chr2:29446397 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4478A>T (p.His1493Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001373971] |
Chr2:29193609 [GRCh38]
Chr2:29416475 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2906C>G (p.Ala969Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002255648]|Neuroblastoma, susceptibility to, 3 [RCV001338862] |
Chr2:29227582 [GRCh38]
Chr2:29450448 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1254C>A (p.Asp418Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001307714] |
Chr2:29383760 [GRCh38]
Chr2:29606626 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1487C>T (p.Pro496Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001338920] |
Chr2:29320810 [GRCh38]
Chr2:29543676 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2327G>A (p.Gly776Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001322143] |
Chr2:29239708 [GRCh38]
Chr2:29462574 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4076A>G (p.Tyr1359Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002322245]|Neuroblastoma, susceptibility to, 3 [RCV001323184] |
Chr2:29196858 [GRCh38]
Chr2:29419724 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4576G>A (p.Glu1526Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002341668]|Neuroblastoma, susceptibility to, 3 [RCV001323191] |
Chr2:29193511 [GRCh38]
Chr2:29416377 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.275C>T (p.Ala92Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001346135] |
Chr2:29920385 [GRCh38]
Chr2:30143251 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2134G>A (p.Val712Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002420758]|Neuroblastoma, susceptibility to, 3 [RCV001350286] |
Chr2:29251175 [GRCh38]
Chr2:29474041 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1036A>C (p.Thr346Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001313995] |
Chr2:29532033 [GRCh38]
Chr2:29754899 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1079G>A (p.Arg360Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003294239]|Neuroblastoma, susceptibility to, 3 [RCV001305784] |
Chr2:29531990 [GRCh38]
Chr2:29754856 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4655G>C (p.Gly1552Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001305820] |
Chr2:29193432 [GRCh38]
Chr2:29416298 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4579C>T (p.Pro1527Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001344160] |
Chr2:29193508 [GRCh38]
Chr2:29416374 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.254C>T (p.Pro85Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002431978]|Neuroblastoma, susceptibility to, 3 [RCV001347329] |
Chr2:29920406 [GRCh38]
Chr2:30143272 [GRCh37]
Chr2:2p23.1 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.3404T>C (p.Val1135Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001361485] |
Chr2:29222563 [GRCh38]
Chr2:29445429 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1084A>G (p.Ile362Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002432023]|Neuroblastoma, susceptibility to, 3 [RCV001363252] |
Chr2:29531985 [GRCh38]
Chr2:29754851 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.398G>T (p.Arg133Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002357279]|Neuroblastoma, susceptibility to, 3 [RCV001374203] |
Chr2:29920262 [GRCh38]
Chr2:30143128 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.653A>G (p.Gln218Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002368212]|Neuroblastoma, susceptibility to, 3 [RCV001374206] |
Chr2:29920007 [GRCh38]
Chr2:30142873 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2310G>A (p.Met770Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002432038]|Neuroblastoma, susceptibility to, 3 [RCV001369454] |
Chr2:29239725 [GRCh38]
Chr2:29462591 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.723T>A (p.Phe241Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001319188] |
Chr2:29717642 [GRCh38]
Chr2:29940508 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3106A>G (p.Ile1036Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001302132] |
Chr2:29225527 [GRCh38]
Chr2:29448393 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.865T>C (p.Ser289Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001346264] |
Chr2:29694937 [GRCh38]
Chr2:29917803 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.748A>G (p.Lys250Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002395767]|Neuroblastoma, susceptibility to, 3 [RCV001347464] |
Chr2:29717617 [GRCh38]
Chr2:29940483 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3776G>C (p.Cys1259Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002350716]|Neuroblastoma, susceptibility to, 3 [RCV001372575] |
Chr2:29209846 [GRCh38]
Chr2:29432712 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1496C>A (p.Pro499His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001374216] |
Chr2:29320801 [GRCh38]
Chr2:29543667 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NC_000002.11:g.(?_29445200)_(29498372_?)del |
deletion |
Neuroblastoma 3 [RCV001314123] |
Chr2:29445200..29498372 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4294C>G (p.Arg1432Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003382512]|Neuroblastoma, susceptibility to, 3 [RCV001305917] |
Chr2:29193793 [GRCh38]
Chr2:29416659 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4529G>A (p.Trp1510Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001307005] |
Chr2:29193558 [GRCh38]
Chr2:29416424 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2430C>G (p.Ser810Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001316097] |
Chr2:29233622 [GRCh38]
Chr2:29456488 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4586_4587delinsTG (p.Asp1529Val) |
indel |
Neuroblastoma, susceptibility to, 3 [RCV001341261] |
Chr2:29193500..29193501 [GRCh38]
Chr2:29416366..29416367 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2776G>A (p.Gly926Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002438732]|Neuroblastoma, susceptibility to, 3 [RCV001320822] |
Chr2:29228923 [GRCh38]
Chr2:29451789 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3225C>A (p.Ser1075Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001320872] |
Chr2:29223476 [GRCh38]
Chr2:29446342 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2487+4T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001349868] |
Chr2:29233561 [GRCh38]
Chr2:29456427 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1798C>T (p.Leu600Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001372782] |
Chr2:29296907 [GRCh38]
Chr2:29519773 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2633-2A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001374337] |
Chr2:29229068 [GRCh38]
Chr2:29451934 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2050C>G (p.Leu684Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001363446] |
Chr2:29251259 [GRCh38]
Chr2:29474125 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1282+5C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001325884] |
Chr2:29383727 [GRCh38]
Chr2:29606593 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1996C>T (p.Pro666Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001341335] |
Chr2:29275144 [GRCh38]
Chr2:29498010 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2543C>T (p.Ala848Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002451676]|Neuroblastoma, susceptibility to, 3 [RCV001302365] |
Chr2:29232393 [GRCh38]
Chr2:29455259 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.172T>C (p.Phe58Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001323479] |
Chr2:29920488 [GRCh38]
Chr2:30143354 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1844G>T (p.Trp615Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002412085]|Neuroblastoma, susceptibility to, 3 [RCV001345362] |
Chr2:29275470 [GRCh38]
Chr2:29498336 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2153del (p.Gly718fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001359467] |
Chr2:29251156 [GRCh38]
Chr2:29474022 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1183C>A (p.Arg395Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002341749]|Neuroblastoma, susceptibility to, 3 [RCV001359592] |
Chr2:29383831 [GRCh38]
Chr2:29606697 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.725C>T (p.Thr242Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001299498] |
Chr2:29717640 [GRCh38]
Chr2:29940506 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1525G>C (p.Ala509Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001343004] |
Chr2:29320772 [GRCh38]
Chr2:29543638 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2667G>T (p.Leu889Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001345393] |
Chr2:29229032 [GRCh38]
Chr2:29451898 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4168C>G (p.Pro1390Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003169702]|Neuroblastoma, susceptibility to, 3 [RCV001347872] |
Chr2:29193919 [GRCh38]
Chr2:29416785 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.881C>T (p.Pro294Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001362037] |
Chr2:29694921 [GRCh38]
Chr2:29917787 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.131T>C (p.Leu44Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001315206] |
Chr2:29920529 [GRCh38]
Chr2:30143395 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3307T>C (p.Ser1103Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003355384]|Neuroblastoma, susceptibility to, 3 [RCV001317239] |
Chr2:29223394 [GRCh38]
Chr2:29446260 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4151A>T (p.Glu1384Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001309068] |
Chr2:29196783 [GRCh38]
Chr2:29419649 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2881_2885del (p.Pro961fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001309085] |
Chr2:29227603..29227607 [GRCh38]
Chr2:29450469..29450473 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.536G>T (p.Arg179Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001341515] |
Chr2:29920124 [GRCh38]
Chr2:30142990 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4608G>T (p.Glu1536Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001344459] |
Chr2:29193479 [GRCh38]
Chr2:29416345 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4601G>C (p.Gly1534Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003294369]|Neuroblastoma, susceptibility to, 3 [RCV001348018] |
Chr2:29193486 [GRCh38]
Chr2:29416352 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1710G>T (p.Glu570Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003298574]|Neuroblastoma, susceptibility to, 3 [RCV001362163] |
Chr2:29296995 [GRCh38]
Chr2:29519861 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4058A>G (p.Asn1353Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002322334]|Neuroblastoma, susceptibility to, 3 [RCV001363705] |
Chr2:29197557 [GRCh38]
Chr2:29420423 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2032G>C (p.Asp678His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001298748] |
Chr2:29275108 [GRCh38]
Chr2:29497974 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3055G>T (p.Val1019Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001298807] |
Chr2:29226934 [GRCh38]
Chr2:29449800 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1806T>G (p.Asp602Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002412024]|Neuroblastoma, susceptibility to, 3 [RCV001318205] |
Chr2:29296899 [GRCh38]
Chr2:29519765 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2998G>C (p.Glu1000Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003166879]|Neuroblastoma, susceptibility to, 3 [RCV001322643] |
Chr2:29226991 [GRCh38]
Chr2:29449857 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.863G>A (p.Trp288Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001362299] |
Chr2:29694939 [GRCh38]
Chr2:29917805 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3161G>T (p.Gly1054Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001368399] |
Chr2:29225472 [GRCh38]
Chr2:29448338 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2648G>A (p.Trp883Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001363783] |
Chr2:29229051 [GRCh38]
Chr2:29451917 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1141C>G (p.Pro381Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001325145] |
Chr2:29531928 [GRCh38]
Chr2:29754794 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1585T>G (p.Ser529Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001325163] |
Chr2:29318366 [GRCh38]
Chr2:29541232 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3065T>G (p.Ile1022Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001326151] |
Chr2:29226924 [GRCh38]
Chr2:29449790 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4828_4854dup (p.Lys1610_Pro1618dup) |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV001341665] |
Chr2:29193232..29193233 [GRCh38]
Chr2:29416098..29416099 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4171G>A (p.Asp1391Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001319657] |
Chr2:29193916 [GRCh38]
Chr2:29416782 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NC_000002.11:g.(?_29754771)_(29754992_?)dup |
duplication |
Neuroblastoma 3 [RCV001319698] |
Chr2:29754771..29754992 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1155T>C (p.Gly385=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002357154]|Neuroblastoma, susceptibility to, 3 [RCV001322720] |
Chr2:29383859 [GRCh38]
Chr2:29606725 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.4306C>A (p.Arg1436Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001323729] |
Chr2:29193781 [GRCh38]
Chr2:29416647 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NC_000002.11:g.(?_29416090)_(29416798_?)dup |
duplication |
Neuroblastoma 3 [RCV001304730] |
Chr2:29416090..29416798 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.464T>A (p.Val155Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003294236]|Neuroblastoma, susceptibility to, 3 [RCV001305283] |
Chr2:29920196 [GRCh38]
Chr2:30143062 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2740G>C (p.Gly914Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001339620] |
Chr2:29228959 [GRCh38]
Chr2:29451825 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4733C>T (p.Pro1578Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003298588]|Neuroblastoma, susceptibility to, 3 [RCV001366131] |
Chr2:29193354 [GRCh38]
Chr2:29416220 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.887A>T (p.Glu296Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001325186] |
Chr2:29694915 [GRCh38]
Chr2:29917781 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2924G>C (p.Gly975Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001295852] |
Chr2:29227065 [GRCh38]
Chr2:29449931 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4121C>A (p.Pro1374His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001308763] |
Chr2:29196813 [GRCh38]
Chr2:29419679 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1849C>A (p.Gln617Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001359937] |
Chr2:29275465 [GRCh38]
Chr2:29498331 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4039C>T (p.Arg1347Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002377491]|Neuroblastoma, susceptibility to, 3 [RCV001350378] |
Chr2:29197576 [GRCh38]
Chr2:29420442 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2501T>A (p.Val834Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002431995]|Neuroblastoma, susceptibility to, 3 [RCV001351857] |
Chr2:29232435 [GRCh38]
Chr2:29455301 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.463G>A (p.Val155Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002341640]|Neuroblastoma, susceptibility to, 3 [RCV001315559] |
Chr2:29920197 [GRCh38]
Chr2:30143063 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4127T>A (p.Phe1376Tyr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001308933] |
Chr2:29196807 [GRCh38]
Chr2:29419673 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1817+3A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001360016] |
Chr2:29296885 [GRCh38]
Chr2:29519751 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.107C>A (p.Pro36Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002420832]|Neuroblastoma, susceptibility to, 3 [RCV001371085]|not provided [RCV003238363] |
Chr2:29920553 [GRCh38]
Chr2:30143419 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.419A>G (p.Gln140Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001366496] |
Chr2:29920241 [GRCh38]
Chr2:30143107 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.548G>T (p.Gly183Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002350513]|Neuroblastoma, susceptibility to, 3 [RCV001295469] |
Chr2:29920112 [GRCh38]
Chr2:30142978 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4780G>A (p.Glu1594Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001314081] |
Chr2:29193307 [GRCh38]
Chr2:29416173 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3088C>T (p.His1030Tyr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001351888] |
Chr2:29225545 [GRCh38]
Chr2:29448411 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2727C>T (p.Ala909=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003160690]|Neuroblastoma, susceptibility to, 3 [RCV001421690] |
Chr2:29228972 [GRCh38]
Chr2:29451838 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4848C>T (p.Asn1616=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001396094] |
Chr2:29193239 [GRCh38]
Chr2:29416105 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3440T>C (p.Val1147Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001314157] |
Chr2:29222527 [GRCh38]
Chr2:29445393 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2276T>G (p.Val759Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001295536] |
Chr2:29239759 [GRCh38]
Chr2:29462625 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3260C>G (p.Thr1087Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001297038] |
Chr2:29223441 [GRCh38]
Chr2:29446307 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1274G>A (p.Cys425Tyr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001318330] |
Chr2:29383740 [GRCh38]
Chr2:29606606 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1637C>G (p.Ser546Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002402871]|Neuroblastoma, susceptibility to, 3 [RCV001309371] |
Chr2:29318314 [GRCh38]
Chr2:29541180 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.667+6C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001371427] |
Chr2:29919987 [GRCh38]
Chr2:30142853 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1892G>A (p.Ser631Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001366751] |
Chr2:29275422 [GRCh38]
Chr2:29498288 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1356G>A (p.Gly452=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002384567]|Neuroblastoma, susceptibility to, 3 [RCV001396152] |
Chr2:29328408 [GRCh38]
Chr2:29551274 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2068G>T (p.Ala690Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002420815]|Neuroblastoma, susceptibility to, 3 [RCV001367655] |
Chr2:29251241 [GRCh38]
Chr2:29474107 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4539G>A (p.Glu1513=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001413285] |
Chr2:29193548 [GRCh38]
Chr2:29416414 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2616C>T (p.Gly872=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001366957] |
Chr2:29232320 [GRCh38]
Chr2:29455186 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.583G>A (p.Ala195Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001368758] |
Chr2:29920077 [GRCh38]
Chr2:30142943 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4255G>C (p.Glu1419Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001368290] |
Chr2:29193832 [GRCh38]
Chr2:29416698 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3817del (p.Met1273fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001338468] |
Chr2:29209805 [GRCh38]
Chr2:29432671 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2192C>A (p.Thr731Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001297774] |
Chr2:29251117 [GRCh38]
Chr2:29473983 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1656G>A (p.Met552Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001307502] |
Chr2:29297049 [GRCh38]
Chr2:29519915 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.512G>A (p.Ser171Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001351222] |
Chr2:29920148 [GRCh38]
Chr2:30143014 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3359+9C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001421284] |
Chr2:29223333 [GRCh38]
Chr2:29446199 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.784T>C (p.Tyr262His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001371562] |
Chr2:29717581 [GRCh38]
Chr2:29940447 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.328T>C (p.Trp110Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001371648] |
Chr2:29920332 [GRCh38]
Chr2:30143198 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2816-5C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001395725] |
Chr2:29227677 [GRCh38]
Chr2:29450543 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.328T>A (p.Trp110Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002447443]|Neuroblastoma, susceptibility to, 3 [RCV001352534] |
Chr2:29920332 [GRCh38]
Chr2:30143198 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.256G>A (p.Glu86Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002432028]|Neuroblastoma, susceptibility to, 3 [RCV001365416] |
Chr2:29920404 [GRCh38]
Chr2:30143270 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3859G>A (p.Gly1287Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001300645] |
Chr2:29207250 [GRCh38]
Chr2:29430116 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2744G>C (p.Trp915Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001316283] |
Chr2:29228955 [GRCh38]
Chr2:29451821 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1843T>G (p.Trp615Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003284182]|Neuroblastoma, susceptibility to, 3 [RCV001316889] |
Chr2:29275471 [GRCh38]
Chr2:29498337 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2002G>A (p.Glu668Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001327719] |
Chr2:29275138 [GRCh38]
Chr2:29498004 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.817G>A (p.Glu273Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001371945] |
Chr2:29694985 [GRCh38]
Chr2:29917851 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1081T>C (p.Tyr361His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001372031] |
Chr2:29531988 [GRCh38]
Chr2:29754854 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4082T>C (p.Ile1361Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001361134] |
Chr2:29196852 [GRCh38]
Chr2:29419718 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2762T>G (p.Phe921Cys) |
single nucleotide variant |
not provided [RCV001357529] |
Chr2:29228937 [GRCh38]
Chr2:29451803 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.532A>G (p.Ile178Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001317041] |
Chr2:29920128 [GRCh38]
Chr2:30142994 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.428T>A (p.Leu143Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002329273]|Neuroblastoma, susceptibility to, 3 [RCV001317074] |
Chr2:29920232 [GRCh38]
Chr2:30143098 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1926C>A (p.Asp642Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002413855]|Neuroblastoma, susceptibility to, 3 [RCV001361262] |
Chr2:29275214 [GRCh38]
Chr2:29498080 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.386G>A (p.Gly129Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001365486] |
Chr2:29920274 [GRCh38]
Chr2:30143140 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3173-7C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001414163] |
Chr2:29223535 [GRCh38]
Chr2:29446401 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.561C>A (p.Ile187=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002350795]|Neuroblastoma, susceptibility to, 3 [RCV001413521] |
Chr2:29920099 [GRCh38]
Chr2:30142965 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.925del (p.Ala309fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001308182] |
Chr2:29694877 [GRCh38]
Chr2:29917743 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3350C>T (p.Thr1117Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002322349]|Neuroblastoma, susceptibility to, 3 [RCV001369479] |
Chr2:29223351 [GRCh38]
Chr2:29446217 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1628T>A (p.Ile543Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001370127] |
Chr2:29318323 [GRCh38]
Chr2:29541189 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.945G>T (p.Met315Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001365799] |
Chr2:29694857 [GRCh38]
Chr2:29917723 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4655G>T (p.Gly1552Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001295063] |
Chr2:29193432 [GRCh38]
Chr2:29416298 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4571A>G (p.Lys1524Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003166654]|Neuroblastoma, susceptibility to, 3 [RCV001296757] |
Chr2:29193516 [GRCh38]
Chr2:29416382 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.237G>T (p.Glu79Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003382513]|Neuroblastoma, susceptibility to, 3 [RCV001306794] |
Chr2:29920423 [GRCh38]
Chr2:30143289 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.75C>A (p.Thr25=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003160658]|Neuroblastoma, susceptibility to, 3 [RCV001413882] |
Chr2:29920585 [GRCh38]
Chr2:30143451 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4773G>A (p.Leu1591=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002341847]|Neuroblastoma, susceptibility to, 3 [RCV001396150] |
Chr2:29193314 [GRCh38]
Chr2:29416180 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.701_702delinsGA (p.Pro234Arg) |
indel |
Neuroblastoma, susceptibility to, 3 [RCV001315897] |
Chr2:29717663..29717664 [GRCh38]
Chr2:29940529..29940530 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.338G>T (p.Gly113Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001326709] |
Chr2:29920322 [GRCh38]
Chr2:30143188 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2420dup (p.Asn808fs) |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV001308655] |
Chr2:29233631..29233632 [GRCh38]
Chr2:29456497..29456498 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1569C>A (p.Thr523=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002405152]|Neuroblastoma, susceptibility to, 3 [RCV001490159] |
Chr2:29318382 [GRCh38]
Chr2:29541248 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1914T>A (p.Ile638=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001492130] |
Chr2:29275226 [GRCh38]
Chr2:29498092 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.678C>T (p.Ser226=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001499041] |
Chr2:29717687 [GRCh38]
Chr2:29940553 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1188A>G (p.Pro396=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002329552]|Neuroblastoma, susceptibility to, 3 [RCV001467933] |
Chr2:29383826 [GRCh38]
Chr2:29606692 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3279C>T (p.Asn1093=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002322516]|Neuroblastoma, susceptibility to, 3 [RCV001467953] |
Chr2:29223422 [GRCh38]
Chr2:29446288 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.921T>C (p.Pro307=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001394123] |
Chr2:29694881 [GRCh38]
Chr2:29917747 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3067+9G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001482365] |
Chr2:29226913 [GRCh38]
Chr2:29449779 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.603G>A (p.Glu201=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002357305]|Neuroblastoma, susceptibility to, 3 [RCV001394270] |
Chr2:29920057 [GRCh38]
Chr2:30142923 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4749T>C (p.Asn1583=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002342007]|Neuroblastoma, susceptibility to, 3 [RCV001453615] |
Chr2:29193338 [GRCh38]
Chr2:29416204 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.957C>T (p.Ser319=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002384733]|Neuroblastoma, susceptibility to, 3 [RCV001460900] |
Chr2:29532112 [GRCh38]
Chr2:29754978 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1035C>T (p.Cys345=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002395904]|Neuroblastoma, susceptibility to, 3 [RCV001399010] |
Chr2:29532034 [GRCh38]
Chr2:29754900 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3507G>A (p.Leu1169=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002456878]|Neuroblastoma, susceptibility to, 3 [RCV001492363] |
Chr2:29222352 [GRCh38]
Chr2:29445218 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2718C>T (p.Cys906=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002432227]|Neuroblastoma, susceptibility to, 3 [RCV001441258] |
Chr2:29228981 [GRCh38]
Chr2:29451847 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2211G>A (p.Ser737=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002432178]|Neuroblastoma, susceptibility to, 3 [RCV001424806] |
Chr2:29239824 [GRCh38]
Chr2:29462690 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.669T>C (p.Gly223=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001470362] |
Chr2:29717696 [GRCh38]
Chr2:29940562 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.360C>G (p.Ala120=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001492442] |
Chr2:29920300 [GRCh38]
Chr2:30143166 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3945T>C (p.Phe1315=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002359043]|Neuroblastoma, susceptibility to, 3 [RCV001467261] |
Chr2:29197670 [GRCh38]
Chr2:29420536 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2535T>G (p.Gly845=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001492491] |
Chr2:29232401 [GRCh38]
Chr2:29455267 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.160C>T (p.Leu54=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002396079]|Neuroblastoma, susceptibility to, 3 [RCV001458677] |
Chr2:29920500 [GRCh38]
Chr2:30143366 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1128C>G (p.Leu376=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001506152] |
Chr2:29531941 [GRCh38]
Chr2:29754807 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.960T>C (p.Phe320=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002384854]|Neuroblastoma, susceptibility to, 3 [RCV001506230] |
Chr2:29532109 [GRCh38]
Chr2:29754975 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4785C>A (p.Ala1595=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002334562]|Neuroblastoma, susceptibility to, 3 [RCV001506231] |
Chr2:29193302 [GRCh38]
Chr2:29416168 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3939-8A>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001430760] |
Chr2:29197684 [GRCh38]
Chr2:29420550 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3173-8A>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001502462] |
Chr2:29223536 [GRCh38]
Chr2:29446402 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3743+9_3743+10del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001504888] |
Chr2:29213974..29213975 [GRCh38]
Chr2:29436840..29436841 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.354A>C (p.Ala118=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002334513]|Neuroblastoma, susceptibility to, 3 [RCV001488062] |
Chr2:29920306 [GRCh38]
Chr2:30143172 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.897C>T (p.Ser299=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001506391] |
Chr2:29694905 [GRCh38]
Chr2:29917771 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.534T>C (p.Ile178=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002350845]|Neuroblastoma, susceptibility to, 3 [RCV001430873] |
Chr2:29920126 [GRCh38]
Chr2:30142992 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1182G>A (p.Gly394=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001471110] |
Chr2:29383832 [GRCh38]
Chr2:29606698 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2041+9del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001491247] |
Chr2:29275090 [GRCh38]
Chr2:29497956 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4584C>T (p.His1528=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002342081]|Neuroblastoma, susceptibility to, 3 [RCV001480097] |
Chr2:29193503 [GRCh38]
Chr2:29416369 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2394C>T (p.Asn798=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001441874] |
Chr2:29233658 [GRCh38]
Chr2:29456524 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2664C>T (p.Ser888=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002439204]|Neuroblastoma, susceptibility to, 3 [RCV001505316] |
Chr2:29229035 [GRCh38]
Chr2:29451901 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.15G>A (p.Gly5=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002405194]|Neuroblastoma, susceptibility to, 3 [RCV001503623] |
Chr2:29920645 [GRCh38]
Chr2:30143511 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.189C>A (p.Leu63=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001465491] |
Chr2:29920471 [GRCh38]
Chr2:30143337 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1415-11TC[2] |
microsatellite |
Neuroblastoma, susceptibility to, 3 [RCV001503841] |
Chr2:29320888..29320889 [GRCh38]
Chr2:29543754..29543755 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4073+9C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001483777] |
Chr2:29197533 [GRCh38]
Chr2:29420399 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4734T>G (p.Pro1578=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002341930]|Neuroblastoma, susceptibility to, 3 [RCV001428628] |
Chr2:29193353 [GRCh38]
Chr2:29416219 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3516-4G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003160763]|Neuroblastoma, susceptibility to, 3 [RCV001439591] |
Chr2:29220839 [GRCh38]
Chr2:29443705 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3918C>T (p.Phe1306=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001439603] |
Chr2:29207191 [GRCh38]
Chr2:29430057 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3591G>A (p.Glu1197=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002334552]|Neuroblastoma, susceptibility to, 3 [RCV001503144] |
Chr2:29220760 [GRCh38]
Chr2:29443626 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.468G>C (p.Gly156=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002329572]|Neuroblastoma, susceptibility to, 3 [RCV001475676] |
Chr2:29920192 [GRCh38]
Chr2:30143058 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3714G>A (p.Gln1238=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002350946]|Neuroblastoma, susceptibility to, 3 [RCV001466007] |
Chr2:29214013 [GRCh38]
Chr2:29436879 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4398T>C (p.Pro1466=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002329591]|Neuroblastoma, susceptibility to, 3 [RCV001489212] |
Chr2:29193689 [GRCh38]
Chr2:29416555 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2244G>A (p.Lys748=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003346581]|Neuroblastoma, susceptibility to, 3 [RCV001491659] |
Chr2:29239791 [GRCh38]
Chr2:29462657 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4602G>A (p.Gly1534=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003298874]|Neuroblastoma, susceptibility to, 3 [RCV001492919] |
Chr2:29193485 [GRCh38]
Chr2:29416351 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4500C>T (p.Thr1500=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001475774] |
Chr2:29193587 [GRCh38]
Chr2:29416453 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2769G>A (p.Gly923=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002439171]|Neuroblastoma, susceptibility to, 3 [RCV001487553]|not provided [RCV003442885] |
Chr2:29228930 [GRCh38]
Chr2:29451796 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.630C>G (p.Ala210=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002368312]|Neuroblastoma, susceptibility to, 3 [RCV001418756]|not provided [RCV003325575] |
Chr2:29920030 [GRCh38]
Chr2:30142896 [GRCh37]
Chr2:2p23.1 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.3255C>T (p.Thr1085=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001429226] |
Chr2:29223446 [GRCh38]
Chr2:29446312 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.567G>A (p.Leu189=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002351022]|Neuroblastoma, susceptibility to, 3 [RCV001493254] |
Chr2:29920093 [GRCh38]
Chr2:30142959 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4347T>C (p.Ser1449=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002329484]|Neuroblastoma, susceptibility to, 3 [RCV001434718] |
Chr2:29193740 [GRCh38]
Chr2:29416606 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1623A>G (p.Ala541=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002405164]|Neuroblastoma, susceptibility to, 3 [RCV001493393] |
Chr2:29318328 [GRCh38]
Chr2:29541194 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3173-4G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001467355] |
Chr2:29223532 [GRCh38]
Chr2:29446398 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.246T>A (p.Ala82=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002449129]|Neuroblastoma, susceptibility to, 3 [RCV001416293] |
Chr2:29920414 [GRCh38]
Chr2:30143280 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4632C>T (p.Asn1544=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002329600]|Neuroblastoma, susceptibility to, 3 [RCV001493608] |
Chr2:29193455 [GRCh38]
Chr2:29416321 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4257G>A (p.Glu1419=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002329644]|Neuroblastoma, susceptibility to, 3 [RCV001506635] |
Chr2:29193830 [GRCh38]
Chr2:29416696 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2961C>T (p.Cys987=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001472759] |
Chr2:29227028 [GRCh38]
Chr2:29449894 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2013A>G (p.Pro671=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001472793] |
Chr2:29275127 [GRCh38]
Chr2:29497993 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4164+8A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001474863] |
Chr2:29196762 [GRCh38]
Chr2:29419628 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.585G>A (p.Ala195=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001471440] |
Chr2:29920075 [GRCh38]
Chr2:30142941 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.2424C>T (p.Asn808=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002456866]|Neuroblastoma, susceptibility to, 3 [RCV001488884] |
Chr2:29233628 [GRCh38]
Chr2:29456494 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1068G>A (p.Gln356=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003355468]|Neuroblastoma, susceptibility to, 3 [RCV001424321] |
Chr2:29532001 [GRCh38]
Chr2:29754867 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3089A>C (p.His1030Pro) |
single nucleotide variant |
not provided [RCV001538915] |
Chr2:29225544 [GRCh38]
Chr2:29448410 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.3537T>C (p.Ile1179=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001445845] |
Chr2:29220814 [GRCh38]
Chr2:29443680 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.33G>A (p.Pro11=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002456657]|Neuroblastoma, susceptibility to, 3 [RCV001411939] |
Chr2:29920627 [GRCh38]
Chr2:30143493 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3093G>T (p.Leu1031=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002322453]|Neuroblastoma, susceptibility to, 3 [RCV001432460] |
Chr2:29225540 [GRCh38]
Chr2:29448406 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3441G>T (p.Val1147=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002456745]|Neuroblastoma, susceptibility to, 3 [RCV001444023] |
Chr2:29222526 [GRCh38]
Chr2:29445392 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2042-10T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001423493] |
Chr2:29251277 [GRCh38]
Chr2:29474143 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2158C>T (p.Leu720=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002420958]|Neuroblastoma, susceptibility to, 3 [RCV001426359] |
Chr2:29251151 [GRCh38]
Chr2:29474017 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3969T>C (p.Phe1323=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002377690]|Neuroblastoma, susceptibility to, 3 [RCV001430244] |
Chr2:29197646 [GRCh38]
Chr2:29420512 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2136G>T (p.Val712=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001439717] |
Chr2:29251173 [GRCh38]
Chr2:29474039 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2633-4G>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001432939] |
Chr2:29229070 [GRCh38]
Chr2:29451936 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1209C>T (p.Ala403=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002359006]|Neuroblastoma, susceptibility to, 3 [RCV001449126] |
Chr2:29383805 [GRCh38]
Chr2:29606671 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1260T>C (p.Phe420=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002439062]|Neuroblastoma, susceptibility to, 3 [RCV001449150] |
Chr2:29383754 [GRCh38]
Chr2:29606620 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.354A>G (p.Ala118=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001425649] |
Chr2:29920306 [GRCh38]
Chr2:30143172 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4605G>T (p.Leu1535=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001425729] |
Chr2:29193482 [GRCh38]
Chr2:29416348 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.953-5T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001441751] |
Chr2:29532121 [GRCh38]
Chr2:29754987 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1032C>T (p.His344=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002396026]|Neuroblastoma, susceptibility to, 3 [RCV001444215] |
Chr2:29532037 [GRCh38]
Chr2:29754903 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3836+10G>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001430571] |
Chr2:29209776 [GRCh38]
Chr2:29432642 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3063C>T (p.Cys1021=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002449167]|Neuroblastoma, susceptibility to, 3 [RCV001430582] |
Chr2:29226926 [GRCh38]
Chr2:29449792 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3966C>A (p.Ile1322=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002377640]|Neuroblastoma, susceptibility to, 3 [RCV001409944] |
Chr2:29197649 [GRCh38]
Chr2:29420515 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1050G>T (p.Ser350=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001446974] |
Chr2:29532019 [GRCh38]
Chr2:29754885 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1239C>T (p.Ser413=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001398078] |
Chr2:29383775 [GRCh38]
Chr2:29606641 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1800C>T (p.Leu600=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001407599] |
Chr2:29296905 [GRCh38]
Chr2:29519771 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4776C>T (p.Pro1592=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001410168] |
Chr2:29193311 [GRCh38]
Chr2:29416177 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1414+8G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001405430] |
Chr2:29328342 [GRCh38]
Chr2:29551208 [GRCh37]
Chr2:2p23.2 |
likely benign |
| inv(2)(p23.1p23.2) |
inversion |
Glioblastoma [RCV001532883] |
Chr2:2p23.2-23.1 |
uncertain significance |
| NM_004304.5(ALK):c.324C>T (p.Val108=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003160704]|Neuroblastoma, susceptibility to, 3 [RCV001425173] |
Chr2:29920336 [GRCh38]
Chr2:30143202 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4839T>C (p.Asn1613=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001430784] |
Chr2:29193248 [GRCh38]
Chr2:29416114 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4401A>G (p.Arg1467=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001410255] |
Chr2:29193686 [GRCh38]
Chr2:29416552 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1551T>C (p.His517=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002404962]|Neuroblastoma, susceptibility to, 3 [RCV001410314] |
Chr2:29318400 [GRCh38]
Chr2:29541266 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4413G>A (p.Val1471=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002329508]|Neuroblastoma, susceptibility to, 3 [RCV001447044] |
Chr2:29193674 [GRCh38]
Chr2:29416540 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3405G>A (p.Val1135=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003160718]|Neuroblastoma, susceptibility to, 3 [RCV001428685] |
Chr2:29222562 [GRCh38]
Chr2:29445428 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.351G>C (p.Pro117=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002456641]|Neuroblastoma, susceptibility to, 3 [RCV001403791] |
Chr2:29920309 [GRCh38]
Chr2:30143175 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1311G>A (p.Leu437=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002384676]|Neuroblastoma, susceptibility to, 3 [RCV001441854]|not provided [RCV003227975] |
Chr2:29328453 [GRCh38]
Chr2:29551319 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.2235A>G (p.Lys745=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001428823] |
Chr2:29239800 [GRCh38]
Chr2:29462666 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3078C>A (p.Thr1026=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001428830] |
Chr2:29225555 [GRCh38]
Chr2:29448421 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1614G>T (p.Thr538=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001431526] |
Chr2:29318337 [GRCh38]
Chr2:29541203 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.732T>C (p.Asn244=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001401341] |
Chr2:29717633 [GRCh38]
Chr2:29940499 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.222A>G (p.Pro74=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002432129]|Neuroblastoma, susceptibility to, 3 [RCV001408194] |
Chr2:29920438 [GRCh38]
Chr2:30143304 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.34C>T (p.Leu12=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001401307] |
Chr2:29920626 [GRCh38]
Chr2:30143492 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4734T>C (p.Pro1578=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001431657] |
Chr2:29193353 [GRCh38]
Chr2:29416219 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2355+7G>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001447767] |
Chr2:29239673 [GRCh38]
Chr2:29462539 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4164+9T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001393660] |
Chr2:29196761 [GRCh38]
Chr2:29419627 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3354C>T (p.Leu1118=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001400124] |
Chr2:29223347 [GRCh38]
Chr2:29446213 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1395A>G (p.Glu465=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002396021]|Neuroblastoma, susceptibility to, 3 [RCV001442422] |
Chr2:29328369 [GRCh38]
Chr2:29551235 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4689T>C (p.Thr1563=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003170002]|Neuroblastoma, susceptibility to, 3 [RCV001401408] |
Chr2:29193398 [GRCh38]
Chr2:29416264 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3282C>G (p.Pro1094=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002449098]|Neuroblastoma, susceptibility to, 3 [RCV001401422] |
Chr2:29223419 [GRCh38]
Chr2:29446285 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3270C>T (p.Thr1090=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003170037]|Neuroblastoma, susceptibility to, 3 [RCV001408761] |
Chr2:29223431 [GRCh38]
Chr2:29446297 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1836C>T (p.Val612=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001442601] |
Chr2:29275478 [GRCh38]
Chr2:29498344 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4746C>T (p.Val1582=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003298675]|Neuroblastoma, susceptibility to, 3 [RCV001408610] |
Chr2:29193341 [GRCh38]
Chr2:29416207 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.816T>C (p.Cys272=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001435007] |
Chr2:29694986 [GRCh38]
Chr2:29917852 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4026C>T (p.Val1342=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001429739] |
Chr2:29197589 [GRCh38]
Chr2:29420455 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4557T>C (p.Asn1519=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002341887]|Neuroblastoma, susceptibility to, 3 [RCV001411492] |
Chr2:29193530 [GRCh38]
Chr2:29416396 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1547-167_1547-166del |
deletion |
not provided [RCV001535268] |
Chr2:29318570..29318571 [GRCh38]
Chr2:29541436..29541437 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3924T>C (p.Ser1308=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001400397] |
Chr2:29207185 [GRCh38]
Chr2:29430051 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2193C>G (p.Thr731=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001442944] |
Chr2:29251116 [GRCh38]
Chr2:29473982 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2082T>C (p.His694=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002421002]|Neuroblastoma, susceptibility to, 3 [RCV001442993] |
Chr2:29251227 [GRCh38]
Chr2:29474093 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3585G>A (p.Leu1195=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002341968]|Neuroblastoma, susceptibility to, 3 [RCV001440625] |
Chr2:29220766 [GRCh38]
Chr2:29443632 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4073+7C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001445793] |
Chr2:29197535 [GRCh38]
Chr2:29420401 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1086T>A (p.Ile362=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002432176]|Neuroblastoma, susceptibility to, 3 [RCV001424429] |
Chr2:29531983 [GRCh38]
Chr2:29754849 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3087A>T (p.Pro1029=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002322425]|Neuroblastoma, susceptibility to, 3 [RCV001416648] |
Chr2:29225546 [GRCh38]
Chr2:29448412 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3840G>A (p.Ala1280=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002368334]|Neuroblastoma, susceptibility to, 3 [RCV001429997] |
Chr2:29207269 [GRCh38]
Chr2:29430135 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.788-7A>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001406750] |
Chr2:29695021 [GRCh38]
Chr2:29917887 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4341C>T (p.Thr1447=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002329446]|Neuroblastoma, susceptibility to, 3 [RCV001411854] |
Chr2:29193746 [GRCh38]
Chr2:29416612 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2633-306G>C |
single nucleotide variant |
not provided [RCV001725331] |
Chr2:29229372 [GRCh38]
Chr2:29452238 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.771T>C (p.Ser257=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001494742] |
Chr2:29717594 [GRCh38]
Chr2:29940460 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2205C>T (p.Ser735=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001478890] |
Chr2:29239830 [GRCh38]
Chr2:29462696 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1422G>T (p.Leu474=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001473008] |
Chr2:29320875 [GRCh38]
Chr2:29543741 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.788-60G>C |
single nucleotide variant |
not provided [RCV001650454] |
Chr2:29695074 [GRCh38]
Chr2:29917940 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.810C>T (p.Phe270=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001461543] |
Chr2:29694992 [GRCh38]
Chr2:29917858 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2205-8C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001464642] |
Chr2:29239838 [GRCh38]
Chr2:29462704 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.788-10A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001499316] |
Chr2:29695024 [GRCh38]
Chr2:29917890 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4410C>T (p.Ala1470=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002329595]|Neuroblastoma, susceptibility to, 3 [RCV001490569] |
Chr2:29193677 [GRCh38]
Chr2:29416543 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1206G>A (p.Val402=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001455064] |
Chr2:29383808 [GRCh38]
Chr2:29606674 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.627C>A (p.Arg209=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003160997]|Neuroblastoma, susceptibility to, 3 [RCV001496229] |
Chr2:29920033 [GRCh38]
Chr2:30142899 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3836+234_3836+243del |
deletion |
not provided [RCV001717212] |
Chr2:29209543..29209552 [GRCh38]
Chr2:29432409..29432418 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.2914+9T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001483086] |
Chr2:29227565 [GRCh38]
Chr2:29450431 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.957C>G (p.Ser319=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002384847]|Neuroblastoma, susceptibility to, 3 [RCV001503356] |
Chr2:29532112 [GRCh38]
Chr2:29754978 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2355+141T>C |
single nucleotide variant |
not provided [RCV001655077] |
Chr2:29239539 [GRCh38]
Chr2:29462405 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.4645A>C (p.Arg1549=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002334537]|Neuroblastoma, susceptibility to, 3 [RCV001496227] |
Chr2:29193442 [GRCh38]
Chr2:29416308 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4458T>C (p.Pro1486=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002329628]|Neuroblastoma, susceptibility to, 3 [RCV001500243] |
Chr2:29193629 [GRCh38]
Chr2:29416495 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4165-5G>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001451982] |
Chr2:29193927 [GRCh38]
Chr2:29416793 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4486A>C (p.Arg1496=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003160904]|Neuroblastoma, susceptibility to, 3 [RCV001469693] |
Chr2:29193601 [GRCh38]
Chr2:29416467 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.612G>A (p.Leu204=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003298860]|Neuroblastoma, susceptibility to, 3 [RCV001487013] |
Chr2:29920048 [GRCh38]
Chr2:30142914 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1371C>T (p.Phe457=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001476275] |
Chr2:29328393 [GRCh38]
Chr2:29551259 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2204+8T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001462588] |
Chr2:29251097 [GRCh38]
Chr2:29473963 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1179C>A (p.Ile393=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002329515]|Neuroblastoma, susceptibility to, 3 [RCV001452402] |
Chr2:29383835 [GRCh38]
Chr2:29606701 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4104T>C (p.His1368=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001459660] |
Chr2:29196830 [GRCh38]
Chr2:29419696 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3762C>T (p.Asn1254=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002343674]|Neuroblastoma, susceptibility to, 3 [RCV001497319] |
Chr2:29209860 [GRCh38]
Chr2:29432726 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1416G>A (p.Arg472=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003298818]|Neuroblastoma, susceptibility to, 3 [RCV001470086] |
Chr2:29320881 [GRCh38]
Chr2:29543747 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3148C>T (p.Leu1050=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001487365] |
Chr2:29225485 [GRCh38]
Chr2:29448351 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1817+132G>A |
single nucleotide variant |
not provided [RCV001685247] |
Chr2:29296756 [GRCh38]
Chr2:29519622 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.2204+120C>A |
single nucleotide variant |
not provided [RCV001652140] |
Chr2:29250985 [GRCh38]
Chr2:29473851 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.1344C>G (p.Val448=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003160862]|Neuroblastoma, susceptibility to, 3 [RCV001460010] |
Chr2:29328420 [GRCh38]
Chr2:29551286 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3172+8C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001463062] |
Chr2:29225453 [GRCh38]
Chr2:29448319 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1154+60A>G |
single nucleotide variant |
not provided [RCV001608904] |
Chr2:29531855 [GRCh38]
Chr2:29754721 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.2307C>T (p.Asp769=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002449347]|Neuroblastoma, susceptibility to, 3 [RCV001517675] |
Chr2:29239728 [GRCh38]
Chr2:29462594 [GRCh37]
Chr2:2p23.2 |
benign|likely benign |
| GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3 |
copy number gain |
See cases [RCV001581099] |
Chr2:24601818..43466284 [GRCh37]
Chr2:2p23.3-21 |
pathogenic |
| NM_004304.5(ALK):c.668-257G>A |
single nucleotide variant |
not provided [RCV001683791] |
Chr2:29717954 [GRCh38]
Chr2:29940820 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.3450+10G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001453412] |
Chr2:29222507 [GRCh38]
Chr2:29445373 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2205-9C>G |
single nucleotide variant |
ALK-related condition [RCV003955997]|Neuroblastoma, susceptibility to, 3 [RCV001456355] |
Chr2:29239839 [GRCh38]
Chr2:29462705 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2190C>T (p.Ala730=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001467081] |
Chr2:29251119 [GRCh38]
Chr2:29473985 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2322G>T (p.Leu774=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002449232]|Neuroblastoma, susceptibility to, 3 [RCV001460308] |
Chr2:29239713 [GRCh38]
Chr2:29462579 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2633-5C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001500937] |
Chr2:29229071 [GRCh38]
Chr2:29451937 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3516-48C>A |
single nucleotide variant |
not provided [RCV001647937] |
Chr2:29220883 [GRCh38]
Chr2:29443749 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.2958C>T (p.Asn986=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002439142]|Neuroblastoma, susceptibility to, 3 [RCV001477943] |
Chr2:29227031 [GRCh38]
Chr2:29449897 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3744-238G>A |
single nucleotide variant |
not provided [RCV001614127] |
Chr2:29210116 [GRCh38]
Chr2:29432982 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.1722G>A (p.Gly574=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003161009]|Neuroblastoma, susceptibility to, 3 [RCV001501597] |
Chr2:29296983 [GRCh38]
Chr2:29519849 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4623C>G (p.Val1541=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002256799]|Neuroblastoma, susceptibility to, 3 [RCV001489239] |
Chr2:29193464 [GRCh38]
Chr2:29416330 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2633-54G>A |
single nucleotide variant |
not provided [RCV001714561] |
Chr2:29229120 [GRCh38]
Chr2:29451986 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.4644G>A (p.Gly1548=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001481373] |
Chr2:29193443 [GRCh38]
Chr2:29416309 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4743T>C (p.Asn1581=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002329540]|Neuroblastoma, susceptibility to, 3 [RCV001464402] |
Chr2:29193344 [GRCh38]
Chr2:29416210 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.406C>A (p.Arg136=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001416923] |
Chr2:29920254 [GRCh38]
Chr2:30143120 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.87G>A (p.Ala29=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001431108] |
Chr2:29920573 [GRCh38]
Chr2:30143439 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.2823T>C (p.Asn941=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001458080] |
Chr2:29227665 [GRCh38]
Chr2:29450531 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.894C>T (p.Ala298=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003365420]|Neuroblastoma, susceptibility to, 3 [RCV001504510] |
Chr2:29694908 [GRCh38]
Chr2:29917774 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3933C>T (p.Asp1311=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002359041]|Neuroblastoma, susceptibility to, 3 [RCV001467032] |
Chr2:29207176 [GRCh38]
Chr2:29430042 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.921T>G (p.Pro307=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001490403] |
Chr2:29694881 [GRCh38]
Chr2:29917747 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3837-8C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001450371] |
Chr2:29207280 [GRCh38]
Chr2:29430146 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1000C>T (p.Leu334=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002341854]|Neuroblastoma, susceptibility to, 3 [RCV001399303] |
Chr2:29532069 [GRCh38]
Chr2:29754935 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2463G>A (p.Gly821=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002432257]|Neuroblastoma, susceptibility to, 3 [RCV001453036] |
Chr2:29233589 [GRCh38]
Chr2:29456455 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3948A>G (p.Gly1316=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001499977] |
Chr2:29197667 [GRCh38]
Chr2:29420533 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3837-8dup |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV001518615] |
Chr2:29207276..29207277 [GRCh38]
Chr2:29430142..29430143 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.75C>T (p.Thr25=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002256793]|Neuroblastoma, susceptibility to, 3 [RCV001482771] |
Chr2:29920585 [GRCh38]
Chr2:30143451 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.189C>T (p.Leu63=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001482772] |
Chr2:29920471 [GRCh38]
Chr2:30143337 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4101A>G (p.Gln1367=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001504656] |
Chr2:29196833 [GRCh38]
Chr2:29419699 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2976A>G (p.Val992=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001424984] |
Chr2:29227013 [GRCh38]
Chr2:29449879 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2385T>C (p.Ile795=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001495945] |
Chr2:29233667 [GRCh38]
Chr2:29456533 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.315G>C (p.Ala105=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001490841] |
Chr2:29920345 [GRCh38]
Chr2:30143211 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4170G>C (p.Pro1390=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003298884]|Neuroblastoma, susceptibility to, 3 [RCV001495722] |
Chr2:29193917 [GRCh38]
Chr2:29416783 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.609G>A (p.Arg203=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001458224] |
Chr2:29920051 [GRCh38]
Chr2:30142917 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.2028C>T (p.Ile676=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002421018]|Neuroblastoma, susceptibility to, 3 [RCV001451109] |
Chr2:29275112 [GRCh38]
Chr2:29497978 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.408G>C (p.Arg136=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002324111]|Neuroblastoma, susceptibility to, 3 [RCV001502284] |
Chr2:29920252 [GRCh38]
Chr2:30143118 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.2316C>T (p.Tyr772=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001464853] |
Chr2:29239719 [GRCh38]
Chr2:29462585 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2211G>T (p.Ser737=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002432369]|Neuroblastoma, susceptibility to, 3 [RCV001488143] |
Chr2:29239824 [GRCh38]
Chr2:29462690 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3642C>G (p.Arg1214=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001473954] |
Chr2:29220709 [GRCh38]
Chr2:29443575 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3873G>T (p.Leu1291=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001453888] |
Chr2:29207236 [GRCh38]
Chr2:29430102 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.213A>C (p.Leu71=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002432278]|Neuroblastoma, susceptibility to, 3 [RCV001457653] |
Chr2:29920447 [GRCh38]
Chr2:30143313 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1437C>T (p.Tyr479=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001467409] |
Chr2:29320860 [GRCh38]
Chr2:29543726 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.433C>T (p.Leu145=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002329596]|Neuroblastoma, susceptibility to, 3 [RCV001491418] |
Chr2:29920227 [GRCh38]
Chr2:30143093 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.333C>T (p.Thr111=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002322401]|Neuroblastoma, susceptibility to, 3 [RCV001403707] |
Chr2:29920327 [GRCh38]
Chr2:30143193 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.2949T>C (p.His983=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002256776]|Neuroblastoma, susceptibility to, 3 [RCV001431850] |
Chr2:29227040 [GRCh38]
Chr2:29449906 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3540T>C (p.Val1180=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002456796]|Neuroblastoma, susceptibility to, 3 [RCV001465894] |
Chr2:29220811 [GRCh38]
Chr2:29443677 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4404G>A (p.Gly1468=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001484874] |
Chr2:29193683 [GRCh38]
Chr2:29416549 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.414C>G (p.Ala138=) |
single nucleotide variant |
ALK-related condition [RCV003908674]|Hereditary cancer-predisposing syndrome [RCV003375306]|Neuroblastoma, susceptibility to, 3 [RCV001451690] |
Chr2:29920246 [GRCh38]
Chr2:30143112 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1335T>C (p.Asn445=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002384721]|Neuroblastoma, susceptibility to, 3 [RCV001457910] |
Chr2:29328429 [GRCh38]
Chr2:29551295 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.192C>T (p.Phe64=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002414098]|Neuroblastoma, susceptibility to, 3 [RCV001459068] |
Chr2:29920468 [GRCh38]
Chr2:30143334 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.2280G>C (p.Leu760=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001404001] |
Chr2:29239755 [GRCh38]
Chr2:29462621 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4578G>A (p.Glu1526=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001443195] |
Chr2:29193509 [GRCh38]
Chr2:29416375 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1488C>G (p.Pro496=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001463107] |
Chr2:29320809 [GRCh38]
Chr2:29543675 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4728C>T (p.His1576=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002341857]|Neuroblastoma, susceptibility to, 3 [RCV001400123] |
Chr2:29193359 [GRCh38]
Chr2:29416225 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3081G>C (p.Pro1027=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001443366] |
Chr2:29225552 [GRCh38]
Chr2:29448418 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1415-10C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001483454] |
Chr2:29320892 [GRCh38]
Chr2:29543758 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2893C>T (p.Leu965=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002438981]|Neuroblastoma, susceptibility to, 3 [RCV001419570] |
Chr2:29227595 [GRCh38]
Chr2:29450461 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.132C>G (p.Leu44=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001427457] |
Chr2:29920528 [GRCh38]
Chr2:30143394 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1096C>T (p.Leu366=) |
single nucleotide variant |
ALK-related condition [RCV003920874]|Hereditary cancer-predisposing syndrome [RCV002449092]|Neuroblastoma, susceptibility to, 3 [RCV001398373] |
Chr2:29531973 [GRCh38]
Chr2:29754839 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1078A>C (p.Arg360=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001402367] |
Chr2:29531991 [GRCh38]
Chr2:29754857 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1851A>G (p.Gln617=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002413944]|Neuroblastoma, susceptibility to, 3 [RCV001400095] |
Chr2:29275463 [GRCh38]
Chr2:29498329 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1146G>C (p.Gly382=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002341901]|Neuroblastoma, susceptibility to, 3 [RCV001416144] |
Chr2:29531923 [GRCh38]
Chr2:29754789 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1407G>A (p.Gln469=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002395976]|Neuroblastoma, susceptibility to, 3 [RCV001425920] |
Chr2:29328357 [GRCh38]
Chr2:29551223 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1913-10T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001466406] |
Chr2:29275237 [GRCh38]
Chr2:29498103 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2376A>G (p.Lys792=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002456696]|Neuroblastoma, susceptibility to, 3 [RCV001426240] |
Chr2:29233676 [GRCh38]
Chr2:29456542 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4626A>C (p.Pro1542=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003170018]|Neuroblastoma, susceptibility to, 3 [RCV001404793] |
Chr2:29193461 [GRCh38]
Chr2:29416327 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1452T>C (p.Asp484=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002395992]|Neuroblastoma, susceptibility to, 3 [RCV001432868] |
Chr2:29320845 [GRCh38]
Chr2:29543711 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.37C>T (p.Leu13=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001435032] |
Chr2:29920623 [GRCh38]
Chr2:30143489 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3300C>G (p.Gly1100=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001485327] |
Chr2:29223401 [GRCh38]
Chr2:29446267 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4797T>C (p.Pro1599=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001427826] |
Chr2:29193290 [GRCh38]
Chr2:29416156 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1704A>C (p.Leu568=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001452278] |
Chr2:29297001 [GRCh38]
Chr2:29519867 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2472C>T (p.Ala824=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001398679] |
Chr2:29233580 [GRCh38]
Chr2:29456446 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1839A>G (p.Ala613=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003169980]|Neuroblastoma, susceptibility to, 3 [RCV001398764] |
Chr2:29275475 [GRCh38]
Chr2:29498341 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2547C>T (p.Tyr849=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002432088]|Neuroblastoma, susceptibility to, 3 [RCV001393919] |
Chr2:29232389 [GRCh38]
Chr2:29455255 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1386C>T (p.Ala462=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001468119] |
Chr2:29328378 [GRCh38]
Chr2:29551244 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1047C>G (p.Val349=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002405098]|Neuroblastoma, susceptibility to, 3 [RCV001468137] |
Chr2:29532022 [GRCh38]
Chr2:29754888 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3642C>T (p.Arg1214=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002350811]|Neuroblastoma, susceptibility to, 3 [RCV001418807] |
Chr2:29220709 [GRCh38]
Chr2:29443575 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4281T>C (p.Ser1427=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002329577]|Neuroblastoma, susceptibility to, 3 [RCV001479489] |
Chr2:29193806 [GRCh38]
Chr2:29416672 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4020G>A (p.Glu1340=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001463784] |
Chr2:29197595 [GRCh38]
Chr2:29420461 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1488C>A (p.Pro496=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001466741] |
Chr2:29320809 [GRCh38]
Chr2:29543675 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2997T>G (p.Pro999=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001398967] |
Chr2:29226992 [GRCh38]
Chr2:29449858 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1980A>C (p.Pro660=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002421122]|Neuroblastoma, susceptibility to, 3 [RCV001489437] |
Chr2:29275160 [GRCh38]
Chr2:29498026 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.579G>A (p.Lys193=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001426377] |
Chr2:29920081 [GRCh38]
Chr2:30142947 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1053G>A (p.Val351=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003346559]|Neuroblastoma, susceptibility to, 3 [RCV001441584] |
Chr2:29532016 [GRCh38]
Chr2:29754882 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1419A>G (p.Lys473=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002395881]|Neuroblastoma, susceptibility to, 3 [RCV001393994] |
Chr2:29320878 [GRCh38]
Chr2:29543744 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.427C>T (p.Leu143=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002329476]|Neuroblastoma, susceptibility to, 3 [RCV001428233] |
Chr2:29920233 [GRCh38]
Chr2:30143099 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.2598G>C (p.Ser866=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002439031]|Neuroblastoma, susceptibility to, 3 [RCV001439116] |
Chr2:29232338 [GRCh38]
Chr2:29455204 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3837-6C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001477391] |
Chr2:29207278 [GRCh38]
Chr2:29430144 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1713C>T (p.Asn571=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002405091]|Neuroblastoma, susceptibility to, 3 [RCV001465326] |
Chr2:29296992 [GRCh38]
Chr2:29519858 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2418T>C (p.Arg806=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001485663] |
Chr2:29233634 [GRCh38]
Chr2:29456500 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.687A>G (p.Ser229=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003106861] |
Chr2:29717678 [GRCh38]
Chr2:29940544 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4169C>T (p.Pro1390Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003104943] |
Chr2:29193918 [GRCh38]
Chr2:29416784 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1817+1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002257341] |
Chr2:29296887 [GRCh38]
Chr2:29519753 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3836+2T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293698] |
Chr2:29209784 [GRCh38]
Chr2:29432650 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3074C>A (p.Pro1025His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293702] |
Chr2:29225559 [GRCh38]
Chr2:29448425 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2308A>G (p.Met770Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293710] |
Chr2:29239727 [GRCh38]
Chr2:29462593 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1857C>A (p.Ser619=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293711] |
Chr2:29275457 [GRCh38]
Chr2:29498323 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3425C>T (p.Pro1142Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293713] |
Chr2:29222542 [GRCh38]
Chr2:29445408 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1536G>A (p.Gln512=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293715] |
Chr2:29320761 [GRCh38]
Chr2:29543627 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.879C>G (p.Ile293Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293718] |
Chr2:29694923 [GRCh38]
Chr2:29917789 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3778C>T (p.Pro1260Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293726]|Neuroblastoma, susceptibility to, 3 [RCV003777229] |
Chr2:29209844 [GRCh38]
Chr2:29432710 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2763C>G (p.Phe921Leu) |
single nucleotide variant |
not provided [RCV003238444] |
Chr2:29228936 [GRCh38]
Chr2:29451802 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.2910A>G (p.Leu970=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002255984] |
Chr2:29227578 [GRCh38]
Chr2:29450444 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1354G>C (p.Gly452Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002258632]|Neuroblastoma, susceptibility to, 3 [RCV003094261] |
Chr2:29328410 [GRCh38]
Chr2:29551276 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3394G>A (p.Glu1132Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002258635] |
Chr2:29222573 [GRCh38]
Chr2:29445439 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.357G>A (p.Glu119=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002258636] |
Chr2:29920303 [GRCh38]
Chr2:30143169 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3458C>G (p.Pro1153Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001761555]|not provided [RCV003238443] |
Chr2:29222401 [GRCh38]
Chr2:29445267 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1489C>T (p.His497Tyr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001761558]|not provided [RCV003238446] |
Chr2:29320808 [GRCh38]
Chr2:29543674 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1766G>C (p.Gly589Ala) |
single nucleotide variant |
not provided [RCV001763631] |
Chr2:29296939 [GRCh38]
Chr2:29519805 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.151A>G (p.Arg51Gly) |
single nucleotide variant |
not provided [RCV003238445] |
Chr2:29920509 [GRCh38]
Chr2:30143375 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.55G>C (p.Val19Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002025401] |
Chr2:29920605 [GRCh38]
Chr2:30143471 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.337G>A (p.Gly113Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001896542] |
Chr2:29920323 [GRCh38]
Chr2:30143189 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.833C>G (p.Pro278Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001970616] |
Chr2:29694969 [GRCh38]
Chr2:29917835 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1355G>A (p.Gly452Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001871240] |
Chr2:29328409 [GRCh38]
Chr2:29551275 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2488-3C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001929182] |
Chr2:29232451 [GRCh38]
Chr2:29455317 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2746G>A (p.Glu916Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002008897] |
Chr2:29228953 [GRCh38]
Chr2:29451819 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4114G>A (p.Asp1372Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001874935] |
Chr2:29196820 [GRCh38]
Chr2:29419686 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2530G>C (p.Gly844Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002040282] |
Chr2:29232406 [GRCh38]
Chr2:29455272 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.317dup (p.Val108fs) |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV002006194] |
Chr2:29920342..29920343 [GRCh38]
Chr2:30143208..30143209 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3067+1G>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001949832] |
Chr2:29226921 [GRCh38]
Chr2:29449787 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3213G>A (p.Met1071Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001864450] |
Chr2:29223488 [GRCh38]
Chr2:29446354 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.655A>C (p.Ile219Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001874937] |
Chr2:29920005 [GRCh38]
Chr2:30142871 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.599G>C (p.Arg200Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001875073] |
Chr2:29920061 [GRCh38]
Chr2:30142927 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3360-1G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002044697] |
Chr2:29222608 [GRCh38]
Chr2:29445474 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3388G>A (p.Val1130Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001914427] |
Chr2:29222579 [GRCh38]
Chr2:29445445 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1528C>G (p.Arg510Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002388710]|Neuroblastoma, susceptibility to, 3 [RCV001873902] |
Chr2:29320769 [GRCh38]
Chr2:29543635 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1474G>A (p.Gly492Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001950394] |
Chr2:29320823 [GRCh38]
Chr2:29543689 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2919G>A (p.Met973Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001971093] |
Chr2:29227070 [GRCh38]
Chr2:29449936 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.665C>T (p.Thr222Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001874976] |
Chr2:29919995 [GRCh38]
Chr2:30142861 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3416C>T (p.Pro1139Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002331350]|Neuroblastoma, susceptibility to, 3 [RCV002042037] |
Chr2:29222551 [GRCh38]
Chr2:29445417 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.850A>G (p.Arg284Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002006446] |
Chr2:29694952 [GRCh38]
Chr2:29917818 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3436C>A (p.Gln1146Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001873111] |
Chr2:29222531 [GRCh38]
Chr2:29445397 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2656A>G (p.Asn886Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001970590] |
Chr2:29229043 [GRCh38]
Chr2:29451909 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1785G>A (p.Trp595Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001950077] |
Chr2:29296920 [GRCh38]
Chr2:29519786 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3992C>A (p.Pro1331His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002370474]|Neuroblastoma, susceptibility to, 3 [RCV001915023] |
Chr2:29197623 [GRCh38]
Chr2:29420489 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4727A>G (p.His1576Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002334770]|Neuroblastoma, susceptibility to, 3 [RCV001874546]|not specified [RCV003151358] |
Chr2:29193360 [GRCh38]
Chr2:29416226 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3939-10C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001971281] |
Chr2:29197686 [GRCh38]
Chr2:29420552 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.469C>A (p.Pro157Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002331499]|Neuroblastoma, susceptibility to, 3 [RCV001950360] |
Chr2:29920191 [GRCh38]
Chr2:30143057 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1139C>G (p.Thr380Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002042051] |
Chr2:29531930 [GRCh38]
Chr2:29754796 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4470C>G (p.His1490Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001872905] |
Chr2:29193617 [GRCh38]
Chr2:29416483 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2280G>A (p.Leu760=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002008963] |
Chr2:29239755 [GRCh38]
Chr2:29462621 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.861C>G (p.Ser287Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002449562]|Neuroblastoma, susceptibility to, 3 [RCV001927692] |
Chr2:29694941 [GRCh38]
Chr2:29917807 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3450+6_3450+8del |
microsatellite |
Neuroblastoma, susceptibility to, 3 [RCV002043487] |
Chr2:29222509..29222511 [GRCh38]
Chr2:29445375..29445377 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4753G>A (p.Gly1585Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001908500] |
Chr2:29193334 [GRCh38]
Chr2:29416200 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2218G>C (p.Gly740Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001964853] |
Chr2:29239817 [GRCh38]
Chr2:29462683 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.221C>G (p.Pro74Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003167039]|Neuroblastoma, susceptibility to, 3 [RCV001915111] |
Chr2:29920439 [GRCh38]
Chr2:30143305 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4462G>C (p.Glu1488Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002007665] |
Chr2:29193625 [GRCh38]
Chr2:29416491 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4172A>C (p.Asp1391Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001914573] |
Chr2:29193915 [GRCh38]
Chr2:29416781 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1126C>T (p.Leu376Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001914520] |
Chr2:29531943 [GRCh38]
Chr2:29754809 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) |
copy number gain |
Mosaic trisomy 2 [RCV002280628] |
Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_004304.5(ALK):c.48G>A (p.Thr16=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002331348]|Neuroblastoma, susceptibility to, 3 [RCV002039250] |
Chr2:29920612 [GRCh38]
Chr2:30143478 [GRCh37]
Chr2:2p23.1 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.289C>T (p.Pro97Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002040998] |
Chr2:29920371 [GRCh38]
Chr2:30143237 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.520T>C (p.Phe174Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002045026] |
Chr2:29920140 [GRCh38]
Chr2:30143006 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2055CAC[1] (p.Thr687del) |
microsatellite |
Neuroblastoma, susceptibility to, 3 [RCV001896487] |
Chr2:29251249..29251251 [GRCh38]
Chr2:29474115..29474117 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1136C>G (p.Pro379Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002008569] |
Chr2:29531933 [GRCh38]
Chr2:29754799 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.464T>G (p.Val155Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002025515] |
Chr2:29920196 [GRCh38]
Chr2:30143062 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1576G>A (p.Val526Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001914170] |
Chr2:29318375 [GRCh38]
Chr2:29541241 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.830C>G (p.Ser277Cys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001914803] |
Chr2:29694972 [GRCh38]
Chr2:29917838 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4745T>C (p.Val1582Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002335010]|Neuroblastoma, susceptibility to, 3 [RCV002025126] |
Chr2:29193342 [GRCh38]
Chr2:29416208 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2006A>G (p.Asn669Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002423194]|Neuroblastoma, susceptibility to, 3 [RCV002008649] |
Chr2:29275134 [GRCh38]
Chr2:29498000 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4079G>T (p.Arg1360Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001864389] |
Chr2:29196855 [GRCh38]
Chr2:29419721 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4654G>C (p.Gly1552Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001894632] |
Chr2:29193433 [GRCh38]
Chr2:29416299 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2356-20C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001965540] |
Chr2:29233716 [GRCh38]
Chr2:29456582 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3449A>C (p.Lys1150Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002003318] |
Chr2:29222518 [GRCh38]
Chr2:29445384 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4261G>T (p.Val1421Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002331373]|Neuroblastoma, susceptibility to, 3 [RCV001930056] |
Chr2:29193826 [GRCh38]
Chr2:29416692 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1639C>A (p.Pro547Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002009023] |
Chr2:29318312 [GRCh38]
Chr2:29541178 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4165G>C (p.Asp1389His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001929868] |
Chr2:29193922 [GRCh38]
Chr2:29416788 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4553del (p.Lys1518fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001914390] |
Chr2:29193534 [GRCh38]
Chr2:29416400 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2306A>T (p.Asp769Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001967678] |
Chr2:29239729 [GRCh38]
Chr2:29462595 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.295C>T (p.Leu99Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001910980] |
Chr2:29920365 [GRCh38]
Chr2:30143231 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1913-17G>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002002452] |
Chr2:29275244 [GRCh38]
Chr2:29498110 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1207G>A (p.Ala403Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001965799] |
Chr2:29383807 [GRCh38]
Chr2:29606673 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3901T>C (p.Phe1301Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001912789] |
Chr2:29207208 [GRCh38]
Chr2:29430074 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.371C>G (p.Ser124Cys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001891462] |
Chr2:29920289 [GRCh38]
Chr2:30143155 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3294T>A (p.Phe1098Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001911618] |
Chr2:29223407 [GRCh38]
Chr2:29446273 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4174G>A (p.Val1392Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001893947] |
Chr2:29193913 [GRCh38]
Chr2:29416779 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2494G>A (p.Asp832Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002425416]|Neuroblastoma, susceptibility to, 3 [RCV002043278] |
Chr2:29232442 [GRCh38]
Chr2:29455308 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4323ACC[1] (p.Pro1443del) |
microsatellite |
Neuroblastoma, susceptibility to, 3 [RCV001912752] |
Chr2:29193759..29193761 [GRCh38]
Chr2:29416625..29416627 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NC_000002.11:g.(?_29416090)_(29416798_?)del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001965496] |
Chr2:29416090..29416798 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3609C>A (p.Asp1203Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001965602] |
Chr2:29220742 [GRCh38]
Chr2:29443608 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3243C>G (p.Ser1081Arg) |
single nucleotide variant |
Phonic tics [RCV001849813] |
Chr2:29223458 [GRCh38]
Chr2:29446324 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2134G>T (p.Val712Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002422943]|Neuroblastoma, susceptibility to, 3 [RCV001871129] |
Chr2:29251175 [GRCh38]
Chr2:29474041 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4656G>T (p.Gly1552=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001969128] |
Chr2:29193431 [GRCh38]
Chr2:29416297 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1052T>C (p.Val351Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001966594] |
Chr2:29532017 [GRCh38]
Chr2:29754883 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2041+19_2041+30del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001965841] |
Chr2:29275069..29275080 [GRCh38]
Chr2:29497935..29497946 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.227C>G (p.Ser76Cys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001966695] |
Chr2:29920433 [GRCh38]
Chr2:30143299 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.103G>A (p.Gly35Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001870906] |
Chr2:29920557 [GRCh38]
Chr2:30143423 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.536G>A (p.Arg179His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002344083]|Neuroblastoma, susceptibility to, 3 [RCV002002123] |
Chr2:29920124 [GRCh38]
Chr2:30142990 [GRCh37]
Chr2:2p23.1 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.3819G>A (p.Met1273Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002352752]|Neuroblastoma, susceptibility to, 3 [RCV002040837] |
Chr2:29209803 [GRCh38]
Chr2:29432669 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4073+5G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002324352]|Neuroblastoma, susceptibility to, 3 [RCV001964966] |
Chr2:29197537 [GRCh38]
Chr2:29420403 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1874T>C (p.Phe625Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001891961] |
Chr2:29275440 [GRCh38]
Chr2:29498306 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4298A>G (p.Glu1433Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002331393]|Neuroblastoma, susceptibility to, 3 [RCV001890129] |
Chr2:29193789 [GRCh38]
Chr2:29416655 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.434T>C (p.Leu145Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001968119]|not provided [RCV003332366] |
Chr2:29920226 [GRCh38]
Chr2:30143092 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.658T>C (p.Phe220Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001985216] |
Chr2:29920002 [GRCh38]
Chr2:30142868 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3450+6_3450+7delinsTG |
indel |
Neuroblastoma, susceptibility to, 3 [RCV001911930] |
Chr2:29222510..29222511 [GRCh38]
Chr2:29445376..29445377 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4373C>T (p.Ala1458Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003164291]|Neuroblastoma, susceptibility to, 3 [RCV001890626] |
Chr2:29193714 [GRCh38]
Chr2:29416580 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3266T>C (p.Met1089Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002442901]|Neuroblastoma, susceptibility to, 3 [RCV001984513] |
Chr2:29223435 [GRCh38]
Chr2:29446301 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2423A>G (p.Asn808Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001910926] |
Chr2:29233629 [GRCh38]
Chr2:29456495 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1977C>A (p.Asn659Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001892437] |
Chr2:29275163 [GRCh38]
Chr2:29498029 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2185C>G (p.Pro729Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001926871] |
Chr2:29251124 [GRCh38]
Chr2:29473990 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3497T>C (p.Met1166Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001965781] |
Chr2:29222362 [GRCh38]
Chr2:29445228 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3794T>C (p.Val1265Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003170532]|Neuroblastoma, susceptibility to, 3 [RCV002042853] |
Chr2:29209828 [GRCh38]
Chr2:29432694 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2428A>G (p.Ser810Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001911866] |
Chr2:29233624 [GRCh38]
Chr2:29456490 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1226G>A (p.Ser409Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002007060] |
Chr2:29383788 [GRCh38]
Chr2:29606654 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.928G>C (p.Glu310Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002039775] |
Chr2:29694874 [GRCh38]
Chr2:29917740 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1404C>A (p.Ser468Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002021723] |
Chr2:29328360 [GRCh38]
Chr2:29551226 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4118G>T (p.Arg1373Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001965838] |
Chr2:29196816 [GRCh38]
Chr2:29419682 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2068G>A (p.Ala690Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003382682]|Neuroblastoma, susceptibility to, 3 [RCV001895275] |
Chr2:29251241 [GRCh38]
Chr2:29474107 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2041+2T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001968080] |
Chr2:29275097 [GRCh38]
Chr2:29497963 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2416C>A (p.Arg806Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002044628] |
Chr2:29233636 [GRCh38]
Chr2:29456502 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.55G>A (p.Val19Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002346268]|Neuroblastoma, susceptibility to, 3 [RCV002040166] |
Chr2:29920605 [GRCh38]
Chr2:30143471 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| GRCh37/hg19 2p23.2-21(chr2:29899368-42441440) |
copy number loss |
not specified [RCV002053089] |
Chr2:29899368..42441440 [GRCh37]
Chr2:2p23.2-21 |
pathogenic |
| NM_004304.5(ALK):c.4468C>T (p.His1490Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002331523]|Neuroblastoma, susceptibility to, 3 [RCV002021825] |
Chr2:29193619 [GRCh38]
Chr2:29416485 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3537dup (p.Val1180fs) |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV001913693] |
Chr2:29220813..29220814 [GRCh38]
Chr2:29443679..29443680 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.832C>A (p.Pro278Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002425230]|Neuroblastoma, susceptibility to, 3 [RCV001910012] |
Chr2:29694970 [GRCh38]
Chr2:29917836 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3959G>A (p.Trp1320Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003772392]|Pseudo-fractures [RCV001849814] |
Chr2:29197656 [GRCh38]
Chr2:29420522 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4636G>C (p.Ala1546Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001894146] |
Chr2:29193451 [GRCh38]
Chr2:29416317 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1261G>A (p.Ala421Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002020606] |
Chr2:29383753 [GRCh38]
Chr2:29606619 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.357G>C (p.Glu119Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001948536] |
Chr2:29920303 [GRCh38]
Chr2:30143169 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3413T>C (p.Met1138Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002044031] |
Chr2:29222554 [GRCh38]
Chr2:29445420 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.620C>T (p.Ala207Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001928275] |
Chr2:29920040 [GRCh38]
Chr2:30142906 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2789C>T (p.Ser930Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002001970] |
Chr2:29228910 [GRCh38]
Chr2:29451776 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1025G>A (p.Ser342Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002386657]|Neuroblastoma, susceptibility to, 3 [RCV001892564] |
Chr2:29532044 [GRCh38]
Chr2:29754910 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3938+4A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001964840] |
Chr2:29207167 [GRCh38]
Chr2:29430033 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3806del (p.Gly1269fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV002020907] |
Chr2:29209816 [GRCh38]
Chr2:29432682 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.252G>T (p.Arg84Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001968312] |
Chr2:29920408 [GRCh38]
Chr2:30143274 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4609G>C (p.Gly1537Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002022528] |
Chr2:29193478 [GRCh38]
Chr2:29416344 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4633G>T (p.Val1545Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002043760] |
Chr2:29193454 [GRCh38]
Chr2:29416320 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3036_3037delinsAT (p.Val1013Leu) |
indel |
Neuroblastoma, susceptibility to, 3 [RCV001892108] |
Chr2:29226952..29226953 [GRCh38]
Chr2:29449818..29449819 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2842C>G (p.Pro948Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001967021] |
Chr2:29227646 [GRCh38]
Chr2:29450512 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4643G>A (p.Gly1548Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001987125] |
Chr2:29193444 [GRCh38]
Chr2:29416310 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1060C>G (p.His354Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002406918]|Neuroblastoma, susceptibility to, 3 [RCV002039699] |
Chr2:29532009 [GRCh38]
Chr2:29754875 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.667+16C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001947545] |
Chr2:29919977 [GRCh38]
Chr2:30142843 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2795G>C (p.Gly932Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003382728]|Neuroblastoma, susceptibility to, 3 [RCV001914184] |
Chr2:29228904 [GRCh38]
Chr2:29451770 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2924G>T (p.Gly975Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003382817]|Neuroblastoma, susceptibility to, 3 [RCV002024577] |
Chr2:29227065 [GRCh38]
Chr2:29449931 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4445A>G (p.Gln1482Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001895205] |
Chr2:29193642 [GRCh38]
Chr2:29416508 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4673_4674delinsTC (p.Glu1558Val) |
indel |
Neuroblastoma, susceptibility to, 3 [RCV001928413] |
Chr2:29193413..29193414 [GRCh38]
Chr2:29416279..29416280 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2165G>C (p.Gly722Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002425434]|Neuroblastoma, susceptibility to, 3 [RCV002024599] |
Chr2:29251144 [GRCh38]
Chr2:29474010 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3334C>T (p.Pro1112Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001965530] |
Chr2:29223367 [GRCh38]
Chr2:29446233 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NC_000002.11:g.(?_29430027)_(29754992_?)dup |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV002004820] |
Chr2:29430027..29754992 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.874C>G (p.Arg292Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001982842] |
Chr2:29694928 [GRCh38]
Chr2:29917794 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.946C>T (p.Pro316Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002443064]|Neuroblastoma, susceptibility to, 3 [RCV002041073] |
Chr2:29694856 [GRCh38]
Chr2:29917722 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4397C>T (p.Pro1466Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002331640]|Neuroblastoma, susceptibility to, 3 [RCV002021499] |
Chr2:29193690 [GRCh38]
Chr2:29416556 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3792A>C (p.Arg1264Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001983927] |
Chr2:29209830 [GRCh38]
Chr2:29432696 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1473A>T (p.Gln491His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002388964]|Neuroblastoma, susceptibility to, 3 [RCV001967041] |
Chr2:29320824 [GRCh38]
Chr2:29543690 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3189C>G (p.His1063Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001894811] |
Chr2:29223512 [GRCh38]
Chr2:29446378 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3352C>G (p.Leu1118Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001872292] |
Chr2:29223349 [GRCh38]
Chr2:29446215 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4584C>A (p.His1528Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001948481]|Ovarian cancer [RCV003154223] |
Chr2:29193503 [GRCh38]
Chr2:29416369 [GRCh37]
Chr2:2p23.2 |
benign|uncertain significance |
| NM_004304.5(ALK):c.1912+1G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001913271] |
Chr2:29275401 [GRCh38]
Chr2:29498267 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2330A>C (p.Gln777Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002005675] |
Chr2:29239705 [GRCh38]
Chr2:29462571 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1262C>T (p.Ala421Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001908127] |
Chr2:29383752 [GRCh38]
Chr2:29606618 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.20T>C (p.Leu7Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002042555] |
Chr2:29920640 [GRCh38]
Chr2:30143506 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.544G>T (p.Glu182Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001908174] |
Chr2:29920116 [GRCh38]
Chr2:30142982 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2172G>T (p.Gln724His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002040241] |
Chr2:29251137 [GRCh38]
Chr2:29474003 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2153G>A (p.Gly718Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001967304] |
Chr2:29251156 [GRCh38]
Chr2:29474022 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1714A>T (p.Lys572Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001966172] |
Chr2:29296991 [GRCh38]
Chr2:29519857 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.443A>T (p.Glu148Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001927644] |
Chr2:29920217 [GRCh38]
Chr2:30143083 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.682G>C (p.Glu228Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001872395] |
Chr2:29717683 [GRCh38]
Chr2:29940549 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3743+1G>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002005582] |
Chr2:29213983 [GRCh38]
Chr2:29436849 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1689C>G (p.Asn563Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001908875] |
Chr2:29297016 [GRCh38]
Chr2:29519882 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1366G>A (p.Asp456Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002002898] |
Chr2:29328398 [GRCh38]
Chr2:29551264 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1076G>A (p.Gly359Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002002908] |
Chr2:29531993 [GRCh38]
Chr2:29754859 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3802A>T (p.Ile1268Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001983421] |
Chr2:29209820 [GRCh38]
Chr2:29432686 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1269G>C (p.Lys423Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002020677] |
Chr2:29383745 [GRCh38]
Chr2:29606611 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1476C>T (p.Gly492=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001872406] |
Chr2:29320821 [GRCh38]
Chr2:29543687 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4223A>G (p.Glu1408Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001985039] |
Chr2:29193864 [GRCh38]
Chr2:29416730 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3782G>A (p.Gly1261Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002021932] |
Chr2:29209840 [GRCh38]
Chr2:29432706 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3704G>A (p.Cys1235Tyr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001890683]|not provided [RCV003314704] |
Chr2:29214023 [GRCh38]
Chr2:29436889 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4420G>C (p.Gly1474Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002040685] |
Chr2:29193667 [GRCh38]
Chr2:29416533 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1288T>A (p.Ser430Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002386650]|Neuroblastoma, susceptibility to, 3 [RCV001886584] |
Chr2:29328476 [GRCh38]
Chr2:29551342 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3332T>C (p.Val1111Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001962519] |
Chr2:29223369 [GRCh38]
Chr2:29446235 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2442G>T (p.Trp814Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002458723]|Neuroblastoma, susceptibility to, 3 [RCV001897762] |
Chr2:29233610 [GRCh38]
Chr2:29456476 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2366T>G (p.Leu789Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001887671] |
Chr2:29233686 [GRCh38]
Chr2:29456552 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1250T>C (p.Val417Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002407249]|Neuroblastoma, susceptibility to, 3 [RCV001980545] |
Chr2:29383764 [GRCh38]
Chr2:29606630 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4619C>G (p.Thr1540Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002258330]|Neuroblastoma, susceptibility to, 3 [RCV001982301] |
Chr2:29193468 [GRCh38]
Chr2:29416334 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3653C>T (p.Pro1218Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001920494] |
Chr2:29214074 [GRCh38]
Chr2:29436940 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3161G>A (p.Gly1054Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001957195] |
Chr2:29225472 [GRCh38]
Chr2:29448338 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1313A>T (p.Gln438Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001922054] |
Chr2:29328451 [GRCh38]
Chr2:29551317 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2780G>C (p.Gly927Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001980595] |
Chr2:29228919 [GRCh38]
Chr2:29451785 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3744-2A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002034982]|not provided [RCV002292671] |
Chr2:29209880 [GRCh38]
Chr2:29432746 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4319C>T (p.Ala1440Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001867256] |
Chr2:29193768 [GRCh38]
Chr2:29416634 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.77G>A (p.Gly26Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001932456] |
Chr2:29920583 [GRCh38]
Chr2:30143449 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4373C>A (p.Ala1458Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002017691] |
Chr2:29193714 [GRCh38]
Chr2:29416580 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2354G>T (p.Ser785Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003355733]|Neuroblastoma, susceptibility to, 3 [RCV001998735] |
Chr2:29239681 [GRCh38]
Chr2:29462547 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.875G>T (p.Arg292Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001925631] |
Chr2:29694927 [GRCh38]
Chr2:29917793 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2345C>G (p.Ala782Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001886712] |
Chr2:29239690 [GRCh38]
Chr2:29462556 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2073C>A (p.Ser691Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001962470] |
Chr2:29251236 [GRCh38]
Chr2:29474102 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2725G>A (p.Ala909Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002458646]|Neuroblastoma, susceptibility to, 3 [RCV002050905] |
Chr2:29228974 [GRCh38]
Chr2:29451840 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.704_705insCCCTTC (p.235SP[3]) |
insertion |
Neuroblastoma, susceptibility to, 3 [RCV001888147] |
Chr2:29717660..29717661 [GRCh38]
Chr2:29940526..29940527 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1622C>T (p.Ala541Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001916727] |
Chr2:29318329 [GRCh38]
Chr2:29541195 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2061A>G (p.Thr687=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001867406] |
Chr2:29251248 [GRCh38]
Chr2:29474114 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.4033G>A (p.Gly1345Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001902070] |
Chr2:29197582 [GRCh38]
Chr2:29420448 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4565T>C (p.Ile1522Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003164158]|Neuroblastoma, susceptibility to, 3 [RCV001905393] |
Chr2:29193522 [GRCh38]
Chr2:29416388 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3607G>C (p.Asp1203His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002000501] |
Chr2:29220744 [GRCh38]
Chr2:29443610 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4406C>G (p.Pro1469Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001888181] |
Chr2:29193681 [GRCh38]
Chr2:29416547 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.625C>G (p.Arg209Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001943271] |
Chr2:29920035 [GRCh38]
Chr2:30142901 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2041+4A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002051080]|not provided [RCV003154204] |
Chr2:29275095 [GRCh38]
Chr2:29497961 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2257C>G (p.Arg753Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003303449]|Neuroblastoma, susceptibility to, 3 [RCV001962379] |
Chr2:29239778 [GRCh38]
Chr2:29462644 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3101C>A (p.Ser1034Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001962405] |
Chr2:29225532 [GRCh38]
Chr2:29448398 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3709_3712dup (p.Gln1238fs) |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV001888055] |
Chr2:29214014..29214015 [GRCh38]
Chr2:29436880..29436881 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4747A>G (p.Asn1583Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001944359] |
Chr2:29193340 [GRCh38]
Chr2:29416206 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3772A>G (p.Thr1258Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001995829] |
Chr2:29209850 [GRCh38]
Chr2:29432716 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2269G>T (p.Val757Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002443013]|Neuroblastoma, susceptibility to, 3 [RCV001981095] |
Chr2:29239766 [GRCh38]
Chr2:29462632 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3784C>A (p.Pro1262Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001884992] |
Chr2:29209838 [GRCh38]
Chr2:29432704 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2825C>T (p.Ala942Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002441146]|Neuroblastoma, susceptibility to, 3 [RCV001974418] |
Chr2:29227663 [GRCh38]
Chr2:29450529 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1818-10A>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001990326] |
Chr2:29275506 [GRCh38]
Chr2:29498372 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4742A>C (p.Asn1581Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002048612] |
Chr2:29193345 [GRCh38]
Chr2:29416211 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4804G>A (p.Gly1602Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001992943] |
Chr2:29193283 [GRCh38]
Chr2:29416149 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4216GAAGAG[1] (p.Glu1408_Glu1409del) |
microsatellite |
Neuroblastoma, susceptibility to, 3 [RCV002033335] |
Chr2:29193860..29193865 [GRCh38]
Chr2:29416726..29416731 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2386G>A (p.Gly796Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001959819] |
Chr2:29233666 [GRCh38]
Chr2:29456532 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1253A>G (p.Asp418Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003303467]|Neuroblastoma, susceptibility to, 3 [RCV001941483] |
Chr2:29383761 [GRCh38]
Chr2:29606627 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4002C>G (p.Ser1334Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003167105]|Neuroblastoma, susceptibility to, 3 [RCV001915811] |
Chr2:29197613 [GRCh38]
Chr2:29420479 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4625C>G (p.Pro1542Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002016832] |
Chr2:29193462 [GRCh38]
Chr2:29416328 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NC_000002.11:g.(?_29443562)_(29448441_?)del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001942889] |
Chr2:29443562..29448441 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3011T>C (p.Val1004Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001942896] |
Chr2:29226978 [GRCh38]
Chr2:29449844 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.917G>A (p.Gly306Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001990509] |
Chr2:29694885 [GRCh38]
Chr2:29917751 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3359+17C>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002013728] |
Chr2:29223325 [GRCh38]
Chr2:29446191 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.3990C>A (p.Tyr1330Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002001022] |
Chr2:29197625 [GRCh38]
Chr2:29420491 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2584G>A (p.Glu862Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001991787] |
Chr2:29232352 [GRCh38]
Chr2:29455218 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2188G>A (p.Ala730Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002048900] |
Chr2:29251121 [GRCh38]
Chr2:29473987 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4215G>A (p.Val1405=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001923283] |
Chr2:29193872 [GRCh38]
Chr2:29416738 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.2204+9G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001981104] |
Chr2:29251096 [GRCh38]
Chr2:29473962 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1371C>G (p.Phe457Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001942551] |
Chr2:29328393 [GRCh38]
Chr2:29551259 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3547A>G (p.Ile1183Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003365564]|Neuroblastoma, susceptibility to, 3 [RCV001943499] |
Chr2:29220804 [GRCh38]
Chr2:29443670 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2090C>A (p.Thr697Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001888870] |
Chr2:29251219 [GRCh38]
Chr2:29474085 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2155C>A (p.Pro719Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002423097]|Neuroblastoma, susceptibility to, 3 [RCV001972341] |
Chr2:29251154 [GRCh38]
Chr2:29474020 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.839T>C (p.Leu280Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001878445] |
Chr2:29694963 [GRCh38]
Chr2:29917829 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1360G>A (p.Ala454Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002386698]|Neuroblastoma, susceptibility to, 3 [RCV001939720] |
Chr2:29328404 [GRCh38]
Chr2:29551270 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1902C>G (p.Cys634Trp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001887589] |
Chr2:29275412 [GRCh38]
Chr2:29498278 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1523A>T (p.Asp508Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001923541] |
Chr2:29320774 [GRCh38]
Chr2:29543640 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1880A>G (p.Asn627Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001938141] |
Chr2:29275434 [GRCh38]
Chr2:29498300 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.596G>A (p.Gly199Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001989595] |
Chr2:29920064 [GRCh38]
Chr2:30142930 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4605_4606insAAGGAGCCACACGAGAGGGGTAACCTGGGGCTG (p.Leu1535_Glu1536insLysGluProHisGluArgGlyAsnLeuGlyLeu) |
insertion |
Neuroblastoma, susceptibility to, 3 [RCV001867101] |
Chr2:29193481..29193482 [GRCh38]
Chr2:29416347..29416348 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4438T>C (p.Phe1480Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001921687] |
Chr2:29193649 [GRCh38]
Chr2:29416515 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4257G>C (p.Glu1419Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002331404]|Neuroblastoma, susceptibility to, 3 [RCV001881526] |
Chr2:29193830 [GRCh38]
Chr2:29416696 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2396A>G (p.Asn799Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001870345] |
Chr2:29233656 [GRCh38]
Chr2:29456522 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2776G>T (p.Gly926Trp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001870360] |
Chr2:29228923 [GRCh38]
Chr2:29451789 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2065G>A (p.Gly689Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001951671] |
Chr2:29251244 [GRCh38]
Chr2:29474110 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.689C>T (p.Pro230Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002011653] |
Chr2:29717676 [GRCh38]
Chr2:29940542 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.724A>G (p.Thr242Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001993725] |
Chr2:29717641 [GRCh38]
Chr2:29940507 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1684_1685del (p.Gly562fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001995577] |
Chr2:29297020..29297021 [GRCh38]
Chr2:29519886..29519887 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3626G>C (p.Arg1209Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001951666] |
Chr2:29220725 [GRCh38]
Chr2:29443591 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1099C>T (p.Pro367Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001870319] |
Chr2:29531970 [GRCh38]
Chr2:29754836 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4165-2A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002014998] |
Chr2:29193924 [GRCh38]
Chr2:29416790 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.787+7A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001904398] |
Chr2:29717571 [GRCh38]
Chr2:29940437 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.192C>G (p.Phe64Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002026959] |
Chr2:29920468 [GRCh38]
Chr2:30143334 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.412G>A (p.Ala138Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001954257] |
Chr2:29920248 [GRCh38]
Chr2:30143114 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3184A>G (p.Lys1062Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002046787] |
Chr2:29223517 [GRCh38]
Chr2:29446383 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3098T>C (p.Leu1033Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002010405] |
Chr2:29225535 [GRCh38]
Chr2:29448401 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2041+13C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002049376] |
Chr2:29275086 [GRCh38]
Chr2:29497952 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NC_000002.11:g.(?_29497955)_(29606735_?)dup |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV001900690] |
Chr2:29497955..29606735 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.617C>T (p.Ala206Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001933966] |
Chr2:29920043 [GRCh38]
Chr2:30142909 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2749A>G (p.Thr917Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001951881] |
Chr2:29228950 [GRCh38]
Chr2:29451816 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.668G>A (p.Gly223Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002046950] |
Chr2:29717697 [GRCh38]
Chr2:29940563 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.877A>G (p.Ile293Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001995694] |
Chr2:29694925 [GRCh38]
Chr2:29917791 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3399C>T (p.Gly1133=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001904437] |
Chr2:29222568 [GRCh38]
Chr2:29445434 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4222G>A (p.Glu1408Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001958388] |
Chr2:29193865 [GRCh38]
Chr2:29416731 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NC_000002.11:g.(?_29416090)_(29606735_?)dup |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV001920475] |
Chr2:29416090..29606735 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1310_1311delinsAA (p.Leu437Gln) |
indel |
Neuroblastoma, susceptibility to, 3 [RCV001932672] |
Chr2:29328453..29328454 [GRCh38]
Chr2:29551319..29551320 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3986C>T (p.Pro1329Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001903844] |
Chr2:29197629 [GRCh38]
Chr2:29420495 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2331G>T (p.Gln777His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001899400] |
Chr2:29239704 [GRCh38]
Chr2:29462570 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1639C>T (p.Pro547Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001975477] |
Chr2:29318312 [GRCh38]
Chr2:29541178 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1639C>G (p.Pro547Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003170140]|Neuroblastoma, susceptibility to, 3 [RCV002014537] |
Chr2:29318312 [GRCh38]
Chr2:29541178 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.560T>A (p.Ile187Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001899497] |
Chr2:29920100 [GRCh38]
Chr2:30142966 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1134G>A (p.Met378Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001898216] |
Chr2:29531935 [GRCh38]
Chr2:29754801 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2131A>C (p.Ser711Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001866367] |
Chr2:29251178 [GRCh38]
Chr2:29474044 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3601G>C (p.Gly1201Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001932744] |
Chr2:29220750 [GRCh38]
Chr2:29443616 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3409G>C (p.Gly1137Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001988877] |
Chr2:29222558 [GRCh38]
Chr2:29445424 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3516-10T>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002045960] |
Chr2:29220845 [GRCh38]
Chr2:29443711 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1504C>T (p.Gln502Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001867714] |
Chr2:29320793 [GRCh38]
Chr2:29543659 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.275C>G (p.Ala92Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001977538] |
Chr2:29920385 [GRCh38]
Chr2:30143251 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4200A>T (p.Glu1400Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002032286] |
Chr2:29193887 [GRCh38]
Chr2:29416753 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3420C>A (p.Asn1140Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001992766] |
Chr2:29222547 [GRCh38]
Chr2:29445413 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NC_000002.11:g.(?_29541160)_(29551357_?)del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001879329] |
Chr2:29541160..29551357 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3419A>G (p.Asn1140Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001977068] |
Chr2:29222548 [GRCh38]
Chr2:29445414 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3167T>C (p.Met1056Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001931726] |
Chr2:29225466 [GRCh38]
Chr2:29448332 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3983T>C (p.Met1328Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003167246]|Neuroblastoma, susceptibility to, 3 [RCV001919625] |
Chr2:29197632 [GRCh38]
Chr2:29420498 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3665C>A (p.Ala1222Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001992934] |
Chr2:29214062 [GRCh38]
Chr2:29436928 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4542A>C (p.Lys1514Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002049985] |
Chr2:29193545 [GRCh38]
Chr2:29416411 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1175G>C (p.Arg392Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001931802] |
Chr2:29383839 [GRCh38]
Chr2:29606705 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2475C>G (p.Thr825=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002048755] |
Chr2:29233577 [GRCh38]
Chr2:29456443 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.531G>T (p.Trp177Cys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002031252] |
Chr2:29920129 [GRCh38]
Chr2:30142995 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4276G>T (p.Val1426Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001904028] |
Chr2:29193811 [GRCh38]
Chr2:29416677 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1845G>A (p.Trp615Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001876884] |
Chr2:29275469 [GRCh38]
Chr2:29498335 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4474G>C (p.Val1492Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001932952] |
Chr2:29193613 [GRCh38]
Chr2:29416479 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1542C>A (p.His514Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003161229]|Neuroblastoma, susceptibility to, 3 [RCV002026267] |
Chr2:29320755 [GRCh38]
Chr2:29543621 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3875C>T (p.Pro1292Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003170479]|Neuroblastoma, susceptibility to, 3 [RCV001991734] |
Chr2:29207234 [GRCh38]
Chr2:29430100 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.614C>T (p.Ser205Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002013664] |
Chr2:29920046 [GRCh38]
Chr2:30142912 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1160C>G (p.Thr387Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002013666] |
Chr2:29383854 [GRCh38]
Chr2:29606720 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3107T>A (p.Ile1036Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001930494] |
Chr2:29225526 [GRCh38]
Chr2:29448392 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2609T>C (p.Leu870Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003303648]|Neuroblastoma, susceptibility to, 3 [RCV002026345] |
Chr2:29232327 [GRCh38]
Chr2:29455193 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2159del (p.Leu720fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV002027643] |
Chr2:29251150 [GRCh38]
Chr2:29474016 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3193_3251dup (p.Arg1084_Thr1085insSerCysLysProCysArgTrpSerCysArgAlaLeuSerThrSerTer) |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV001915981] |
Chr2:29223449..29223450 [GRCh38]
Chr2:29446315..29446316 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2780G>T (p.Gly927Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001901100] |
Chr2:29228919 [GRCh38]
Chr2:29451785 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.900G>T (p.Gln300His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001936129] |
Chr2:29694902 [GRCh38]
Chr2:29917768 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2962A>C (p.Ser988Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002028939] |
Chr2:29227027 [GRCh38]
Chr2:29449893 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4723C>T (p.Arg1575Cys) |
single nucleotide variant |
ALK-related condition [RCV003407876]|Hereditary cancer-predisposing syndrome [RCV002334789]|Neuroblastoma, susceptibility to, 3 [RCV001880853]|not provided [RCV003318696] |
Chr2:29193364 [GRCh38]
Chr2:29416230 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.149A>T (p.Gln50Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002013837] |
Chr2:29920511 [GRCh38]
Chr2:30143377 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4113A>C (p.Glu1371Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001955478] |
Chr2:29196821 [GRCh38]
Chr2:29419687 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2459del (p.Gly820fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV002047762] |
Chr2:29233593 [GRCh38]
Chr2:29456459 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1546+1G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001934743] |
Chr2:29320750 [GRCh38]
Chr2:29543616 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4657G>C (p.Ala1553Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001916244] |
Chr2:29193430 [GRCh38]
Chr2:29416296 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4007A>G (p.Gln1336Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003289386]|Neuroblastoma, susceptibility to, 3 [RCV002011486] |
Chr2:29197608 [GRCh38]
Chr2:29420474 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.85G>T (p.Ala29Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002029323] |
Chr2:29920575 [GRCh38]
Chr2:30143441 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4231G>C (p.Val1411Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001955543] |
Chr2:29193856 [GRCh38]
Chr2:29416722 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.889G>A (p.Glu297Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001901667] |
Chr2:29694913 [GRCh38]
Chr2:29917779 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3392_3406del (p.Tyr1131_Val1135del) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001978438] |
Chr2:29222561..29222575 [GRCh38]
Chr2:29445427..29445441 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3646-3C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001917666] |
Chr2:29214084 [GRCh38]
Chr2:29436950 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.656T>C (p.Ile219Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003303356]|Neuroblastoma, susceptibility to, 3 [RCV001903639] |
Chr2:29920004 [GRCh38]
Chr2:30142870 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1399G>T (p.Glu467Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002016135] |
Chr2:29328365 [GRCh38]
Chr2:29551231 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4247A>T (p.Lys1416Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001883181] |
Chr2:29193840 [GRCh38]
Chr2:29416706 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2890A>T (p.Ile964Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001952913] |
Chr2:29227598 [GRCh38]
Chr2:29450464 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.347C>T (p.Ala116Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001881231] |
Chr2:29920313 [GRCh38]
Chr2:30143179 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.562C>T (p.Arg188Cys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001998167] |
Chr2:29920098 [GRCh38]
Chr2:30142964 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4535C>G (p.Thr1512Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002334965]|Neuroblastoma, susceptibility to, 3 [RCV001989770] |
Chr2:29193552 [GRCh38]
Chr2:29416418 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2204+15G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001939658] |
Chr2:29251090 [GRCh38]
Chr2:29473956 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.985T>G (p.Ser329Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001960911] |
Chr2:29532084 [GRCh38]
Chr2:29754950 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2781del (p.Cys928fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV002050711] |
Chr2:29228918 [GRCh38]
Chr2:29451784 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1154+5G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001989869] |
Chr2:29531910 [GRCh38]
Chr2:29754776 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1795C>T (p.Pro599Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003164202]|Neuroblastoma, susceptibility to, 3 [RCV001899261] |
Chr2:29296910 [GRCh38]
Chr2:29519776 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3860G>A (p.Gly1287Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002036695] |
Chr2:29207249 [GRCh38]
Chr2:29430115 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4839T>G (p.Asn1613Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002036712] |
Chr2:29193248 [GRCh38]
Chr2:29416114 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NC_000002.11:g.(?_29519744)_(29519933_?)del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001919281] |
Chr2:29519744..29519933 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1833G>A (p.Met611Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002407132]|Neuroblastoma, susceptibility to, 3 [RCV001978701] |
Chr2:29275481 [GRCh38]
Chr2:29498347 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.4763A>C (p.Gln1588Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001937941] |
Chr2:29193324 [GRCh38]
Chr2:29416190 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2978A>T (p.Asp993Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001924551] |
Chr2:29227011 [GRCh38]
Chr2:29449877 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1273T>G (p.Cys425Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001981245] |
Chr2:29383741 [GRCh38]
Chr2:29606607 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1574A>G (p.Asp525Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002258356]|Neuroblastoma, susceptibility to, 3 [RCV002036196]|not provided [RCV003313264] |
Chr2:29318377 [GRCh38]
Chr2:29541243 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3695A>G (p.Asp1232Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001876416] |
Chr2:29214032 [GRCh38]
Chr2:29436898 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2456dup (p.Gly820fs) |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV001977780] |
Chr2:29233595..29233596 [GRCh38]
Chr2:29456461..29456462 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3314_3316dup (p.Ile1105dup) |
duplication |
Hereditary cancer-predisposing syndrome [RCV002324438]|Neuroblastoma, susceptibility to, 3 [RCV001994096] |
Chr2:29223384..29223385 [GRCh38]
Chr2:29446250..29446251 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.33G>T (p.Pro11=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002458870]|Neuroblastoma, susceptibility to, 3 [RCV002012047] |
Chr2:29920627 [GRCh38]
Chr2:30143493 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4451A>C (p.Asn1484Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003167253]|Neuroblastoma, susceptibility to, 3 [RCV001954704] |
Chr2:29193636 [GRCh38]
Chr2:29416502 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1037C>T (p.Thr346Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001975720] |
Chr2:29532032 [GRCh38]
Chr2:29754898 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.415A>G (p.Lys139Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002331448]|Neuroblastoma, susceptibility to, 3 [RCV001923469] |
Chr2:29920245 [GRCh38]
Chr2:30143111 [GRCh37]
Chr2:2p23.1 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.2050C>A (p.Leu684Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001866467] |
Chr2:29251259 [GRCh38]
Chr2:29474125 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4861T>C (p.Ter1621Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001924727] |
Chr2:29193226 [GRCh38]
Chr2:29416092 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3599C>G (p.Ala1200Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002458818]|Neuroblastoma, susceptibility to, 3 [RCV001954848] |
Chr2:29220752 [GRCh38]
Chr2:29443618 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2147G>T (p.Ser716Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001992879] |
Chr2:29251162 [GRCh38]
Chr2:29474028 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4129G>A (p.Ala1377Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001879322] |
Chr2:29196805 [GRCh38]
Chr2:29419671 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3403G>T (p.Val1135Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001864853] |
Chr2:29222564 [GRCh38]
Chr2:29445430 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2530G>A (p.Gly844Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002031347] |
Chr2:29232406 [GRCh38]
Chr2:29455272 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1853G>A (p.Gly618Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001905461] |
Chr2:29275461 [GRCh38]
Chr2:29498327 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4584C>G (p.His1528Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001981472] |
Chr2:29193503 [GRCh38]
Chr2:29416369 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2078C>T (p.Pro693Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001961179] |
Chr2:29251231 [GRCh38]
Chr2:29474097 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3607G>A (p.Asp1203Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002458995]|Lung cancer [RCV002282682]|Neuroblastoma, susceptibility to, 3 [RCV002026227] |
Chr2:29220744 [GRCh38]
Chr2:29443610 [GRCh37]
Chr2:2p23.2 |
likely pathogenic|uncertain significance |
| NM_004304.5(ALK):c.3094C>T (p.Pro1032Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002258329]|Neuroblastoma, susceptibility to, 3 [RCV001972052] |
Chr2:29225539 [GRCh38]
Chr2:29448405 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1A>T (p.Met1Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001878139] |
Chr2:29920659 [GRCh38]
Chr2:30143525 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.517C>G (p.Leu173Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002334885]|Neuroblastoma, susceptibility to, 3 [RCV001933121] |
Chr2:29920143 [GRCh38]
Chr2:30143009 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2677G>C (p.Gly893Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002013696] |
Chr2:29229022 [GRCh38]
Chr2:29451888 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1474G>T (p.Gly492Cys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001880929] |
Chr2:29320823 [GRCh38]
Chr2:29543689 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1545A>G (p.Gln515=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001936533] |
Chr2:29320752 [GRCh38]
Chr2:29543618 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1201C>T (p.Arg401Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001995169] |
Chr2:29383813 [GRCh38]
Chr2:29606679 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2378T>C (p.Val793Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003170483]|Neuroblastoma, susceptibility to, 3 [RCV001991848] |
Chr2:29233674 [GRCh38]
Chr2:29456540 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.265G>A (p.Gly89Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002425158]|Neuroblastoma, susceptibility to, 3 [RCV001902479] |
Chr2:29920395 [GRCh38]
Chr2:30143261 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1709A>C (p.Glu570Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001904328] |
Chr2:29296996 [GRCh38]
Chr2:29519862 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2041G>C (p.Val681Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002034039] |
Chr2:29275099 [GRCh38]
Chr2:29497965 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.482C>A (p.Ala161Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002337110]|Neuroblastoma, susceptibility to, 3 [RCV001999161] |
Chr2:29920178 [GRCh38]
Chr2:30143044 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4421G>C (p.Gly1474Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001884209] |
Chr2:29193666 [GRCh38]
Chr2:29416532 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3698T>C (p.Ile1233Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003170449]|Neuroblastoma, susceptibility to, 3 [RCV001981021] |
Chr2:29214029 [GRCh38]
Chr2:29436895 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3870G>A (p.Met1290Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001907323] |
Chr2:29207239 [GRCh38]
Chr2:29430105 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.314C>A (p.Ala105Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002018691] |
Chr2:29920346 [GRCh38]
Chr2:30143212 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2373G>C (p.Gln791His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001998085] |
Chr2:29233679 [GRCh38]
Chr2:29456545 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2356-16C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001992057] |
Chr2:29233712 [GRCh38]
Chr2:29456578 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3536T>C (p.Ile1179Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002049096] |
Chr2:29220815 [GRCh38]
Chr2:29443681 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.683A>G (p.Glu228Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001878562] |
Chr2:29717682 [GRCh38]
Chr2:29940548 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1779G>C (p.Trp593Cys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001932142] |
Chr2:29296926 [GRCh38]
Chr2:29519792 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1954T>C (p.Ser652Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001955428] |
Chr2:29275186 [GRCh38]
Chr2:29498052 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.376G>C (p.Val126Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001936753] |
Chr2:29920284 [GRCh38]
Chr2:30143150 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4708C>G (p.Pro1570Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001907394] |
Chr2:29193379 [GRCh38]
Chr2:29416245 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2303A>G (p.Asp768Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001976406] |
Chr2:29239732 [GRCh38]
Chr2:29462598 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1843T>A (p.Trp615Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001877315] |
Chr2:29275471 [GRCh38]
Chr2:29498337 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1803del (p.Asp602fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001918935]|not provided [RCV003228021] |
Chr2:29296902 [GRCh38]
Chr2:29519768 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.628_629delinsCT (p.Ala210Leu) |
indel |
Neuroblastoma, susceptibility to, 3 [RCV002049171] |
Chr2:29920031..29920032 [GRCh38]
Chr2:30142897..30142898 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1133T>A (p.Met378Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001936820] |
Chr2:29531936 [GRCh38]
Chr2:29754802 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.758T>C (p.Phe253Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001897934] |
Chr2:29717607 [GRCh38]
Chr2:29940473 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1223C>G (p.Ser408Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002361386]|Neuroblastoma, susceptibility to, 3 [RCV002047784]|not provided [RCV003149013] |
Chr2:29383791 [GRCh38]
Chr2:29606657 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1459T>A (p.Cys487Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002048559] |
Chr2:29320838 [GRCh38]
Chr2:29543704 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3172+6T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002028687] |
Chr2:29225455 [GRCh38]
Chr2:29448321 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2032G>A (p.Asp678Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002423230]|Neuroblastoma, susceptibility to, 3 [RCV002017396] |
Chr2:29275108 [GRCh38]
Chr2:29497974 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4769G>A (p.Gly1590Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001996940] |
Chr2:29193318 [GRCh38]
Chr2:29416184 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1676T>C (p.Val559Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002407079]|Neuroblastoma, susceptibility to, 3 [RCV001938493] |
Chr2:29297029 [GRCh38]
Chr2:29519895 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4165G>T (p.Asp1389Tyr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001923844] |
Chr2:29193922 [GRCh38]
Chr2:29416788 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2560G>C (p.Asp854His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003382748]|Neuroblastoma, susceptibility to, 3 [RCV001980151] |
Chr2:29232376 [GRCh38]
Chr2:29455242 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4151A>G (p.Glu1384Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001977255] |
Chr2:29196783 [GRCh38]
Chr2:29419649 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2891T>A (p.Ile964Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001884678] |
Chr2:29227597 [GRCh38]
Chr2:29450463 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1818-1G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001924767] |
Chr2:29275497 [GRCh38]
Chr2:29498363 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3098T>G (p.Leu1033Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001925645] |
Chr2:29225535 [GRCh38]
Chr2:29448401 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1338G>T (p.Gly446=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001907115] |
Chr2:29328426 [GRCh38]
Chr2:29551292 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.2716_2717insTT (p.Cys906fs) |
insertion |
Neuroblastoma, susceptibility to, 3 [RCV001905775] |
Chr2:29228982..29228983 [GRCh38]
Chr2:29451848..29451849 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1190A>G (p.Asp397Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002334902]|Neuroblastoma, susceptibility to, 3 [RCV001924114] |
Chr2:29383824 [GRCh38]
Chr2:29606690 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.247G>A (p.Gly83Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001980648] |
Chr2:29920413 [GRCh38]
Chr2:30143279 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2875A>G (p.Ile959Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001936924] |
Chr2:29227613 [GRCh38]
Chr2:29450479 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.406C>T (p.Arg136Trp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001884918] |
Chr2:29920254 [GRCh38]
Chr2:30143120 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4277T>A (p.Val1426Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002018013] |
Chr2:29193810 [GRCh38]
Chr2:29416676 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2479G>C (p.Val827Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001884742] |
Chr2:29233573 [GRCh38]
Chr2:29456439 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3919A>G (p.Thr1307Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002034391] |
Chr2:29207190 [GRCh38]
Chr2:29430056 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3410G>A (p.Gly1137Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002458755]|Neuroblastoma, susceptibility to, 3 [RCV001906255] |
Chr2:29222557 [GRCh38]
Chr2:29445423 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.898C>A (p.Gln300Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002018896] |
Chr2:29694904 [GRCh38]
Chr2:29917770 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NC_000002.11:g.(?_29416090)_(29430148_?)del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001981431] |
Chr2:29416090..29430148 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4441T>C (p.Ser1481Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003166929]|Neuroblastoma, susceptibility to, 3 [RCV001905594] |
Chr2:29193646 [GRCh38]
Chr2:29416512 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2692G>A (p.Glu898Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001940337] |
Chr2:29229007 [GRCh38]
Chr2:29451873 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4318G>T (p.Ala1440Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001907188] |
Chr2:29193769 [GRCh38]
Chr2:29416635 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4106A>G (p.Gln1369Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003164120]|Neuroblastoma, susceptibility to, 3 [RCV001907218] |
Chr2:29196828 [GRCh38]
Chr2:29419694 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.563G>A (p.Arg188His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002346325]|Neuroblastoma, susceptibility to, 3 [RCV002034053] |
Chr2:29920097 [GRCh38]
Chr2:30142963 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3358C>A (p.Arg1120=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002324415]|Neuroblastoma, susceptibility to, 3 [RCV001997848] |
Chr2:29223343 [GRCh38]
Chr2:29446209 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.4598T>G (p.Leu1533Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002334855]|Neuroblastoma, susceptibility to, 3 [RCV001906664] |
Chr2:29193489 [GRCh38]
Chr2:29416355 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3597G>T (p.Met1199Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001917571] |
Chr2:29220754 [GRCh38]
Chr2:29443620 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.408del (p.Arg137fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV001992560] |
Chr2:29920252 [GRCh38]
Chr2:30143118 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2356A>G (p.Thr786Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002449519]|Neuroblastoma, susceptibility to, 3 [RCV001885647] |
Chr2:29233696 [GRCh38]
Chr2:29456562 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3784C>T (p.Pro1262Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002344022]|Neuroblastoma, susceptibility to, 3 [RCV001926037] |
Chr2:29209838 [GRCh38]
Chr2:29432704 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4554del (p.Asn1519fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV002027166] |
Chr2:29193533 [GRCh38]
Chr2:29416399 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4657G>A (p.Ala1553Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003382721]|Neuroblastoma, susceptibility to, 3 [RCV001933096] |
Chr2:29193430 [GRCh38]
Chr2:29416296 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2093A>G (p.Gln698Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001878212] |
Chr2:29251216 [GRCh38]
Chr2:29474082 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2770G>C (p.Gly924Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001903943]|not provided [RCV003442922] |
Chr2:29228929 [GRCh38]
Chr2:29451795 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3602G>A (p.Gly1201Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002027208] |
Chr2:29220749 [GRCh38]
Chr2:29443615 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4611A>T (p.Gly1537=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001899932] |
Chr2:29193476 [GRCh38]
Chr2:29416342 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4387G>T (p.Val1463Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002015168] |
Chr2:29193700 [GRCh38]
Chr2:29416566 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4297del (p.Glu1433fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV002032919] |
Chr2:29193790 [GRCh38]
Chr2:29416656 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.436G>A (p.Gly146Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001935077] |
Chr2:29920224 [GRCh38]
Chr2:30143090 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1124T>A (p.Ile375Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003167342]|Neuroblastoma, susceptibility to, 3 [RCV001972004] |
Chr2:29531945 [GRCh38]
Chr2:29754811 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2393A>C (p.Asn798Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002425127]|Neuroblastoma, susceptibility to, 3 [RCV001864899] |
Chr2:29233659 [GRCh38]
Chr2:29456525 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3966C>G (p.Ile1322Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001933156] |
Chr2:29197649 [GRCh38]
Chr2:29420515 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.167T>C (p.Val56Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001900806] |
Chr2:29920493 [GRCh38]
Chr2:30143359 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4753G>T (p.Gly1585Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002331654]|Neuroblastoma, susceptibility to, 3 [RCV002049731] |
Chr2:29193334 [GRCh38]
Chr2:29416200 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1816A>G (p.Arg606Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001898390] |
Chr2:29296889 [GRCh38]
Chr2:29519755 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1243T>C (p.Ser415Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003167241]|Neuroblastoma, susceptibility to, 3 [RCV001917035] |
Chr2:29383771 [GRCh38]
Chr2:29606637 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NC_000002.11:g.(?_29416090)_(29474143_?)dup |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV001918743] |
Chr2:29416090..29474143 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.322G>T (p.Val108Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003289239]|Neuroblastoma, susceptibility to, 3 [RCV001919694] |
Chr2:29920338 [GRCh38]
Chr2:30143204 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.193del (p.Arg65fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV002050778] |
Chr2:29920467 [GRCh38]
Chr2:30143333 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2782T>C (p.Cys928Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001993798] |
Chr2:29228917 [GRCh38]
Chr2:29451783 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.25C>A (p.Leu9Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002046153] |
Chr2:29920635 [GRCh38]
Chr2:30143501 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4486A>G (p.Arg1496Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001880341] |
Chr2:29193601 [GRCh38]
Chr2:29416467 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1443C>A (p.Asn481Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002388699]|Neuroblastoma, susceptibility to, 3 [RCV002050838] |
Chr2:29320854 [GRCh38]
Chr2:29543720 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1175G>A (p.Arg392Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001877505] |
Chr2:29383839 [GRCh38]
Chr2:29606705 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4600G>C (p.Gly1534Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002335027]|Neuroblastoma, susceptibility to, 3 [RCV002009979] |
Chr2:29193487 [GRCh38]
Chr2:29416353 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.134G>C (p.Ser45Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001866611] |
Chr2:29920526 [GRCh38]
Chr2:30143392 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.670C>A (p.His224Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002027475] |
Chr2:29717695 [GRCh38]
Chr2:29940561 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.320G>A (p.Gly107Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002324397]|Neuroblastoma, susceptibility to, 3 [RCV001993001] |
Chr2:29920340 [GRCh38]
Chr2:30143206 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3095C>A (p.Pro1032Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002033650] |
Chr2:29225538 [GRCh38]
Chr2:29448404 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4015C>G (p.Leu1339Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002352667]|Neuroblastoma, susceptibility to, 3 [RCV001979460]|not provided [RCV003235640] |
Chr2:29197600 [GRCh38]
Chr2:29420466 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4600G>A (p.Gly1534Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001979480] |
Chr2:29193487 [GRCh38]
Chr2:29416353 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1428G>A (p.Val476=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002388691]|Neuroblastoma, susceptibility to, 3 [RCV002050074] |
Chr2:29320869 [GRCh38]
Chr2:29543735 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.164C>T (p.Ala55Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003303665]|Neuroblastoma, susceptibility to, 3 [RCV002027719] |
Chr2:29920496 [GRCh38]
Chr2:30143362 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1647+4A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001992323] |
Chr2:29318300 [GRCh38]
Chr2:29541166 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.410G>A (p.Arg137His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002324421]|Neuroblastoma, susceptibility to, 3 [RCV001979582] |
Chr2:29920250 [GRCh38]
Chr2:30143116 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1865T>C (p.Ile622Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003303585]|Neuroblastoma, susceptibility to, 3 [RCV002010032] |
Chr2:29275449 [GRCh38]
Chr2:29498315 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.4737T>A (p.Cys1579Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002046467] |
Chr2:29193350 [GRCh38]
Chr2:29416216 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1276A>G (p.Ser426Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002011911] |
Chr2:29383738 [GRCh38]
Chr2:29606604 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2159T>A (p.Leu720Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002012834] |
Chr2:29251150 [GRCh38]
Chr2:29474016 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4849C>T (p.Gln1617Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV001898747] |
Chr2:29193238 [GRCh38]
Chr2:29416104 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.741G>C (p.Trp247Cys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002047540] |
Chr2:29717624 [GRCh38]
Chr2:29940490 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3646-19C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002210772] |
Chr2:29214100 [GRCh38]
Chr2:29436966 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3646-19C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002108209] |
Chr2:29214100 [GRCh38]
Chr2:29436966 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3618C>T (p.Ser1206=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002073430] |
Chr2:29220733 [GRCh38]
Chr2:29443599 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.787+16A>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002091898] |
Chr2:29717562 [GRCh38]
Chr2:29940428 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.318G>T (p.Pro106=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002167863] |
Chr2:29920342 [GRCh38]
Chr2:30143208 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3451-16C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002085351] |
Chr2:29222424 [GRCh38]
Chr2:29445290 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2487+10G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002128286] |
Chr2:29233555 [GRCh38]
Chr2:29456421 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2154C>T (p.Gly718=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002427695]|Neuroblastoma, susceptibility to, 3 [RCV002128948] |
Chr2:29251155 [GRCh38]
Chr2:29474021 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3429C>T (p.Ser1143=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002454423]|Neuroblastoma, susceptibility to, 3 [RCV002090507] |
Chr2:29222538 [GRCh38]
Chr2:29445404 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1648-16C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002108534] |
Chr2:29297073 [GRCh38]
Chr2:29519939 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2632+18T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002105795] |
Chr2:29232286 [GRCh38]
Chr2:29455152 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2205-20C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002105933] |
Chr2:29239850 [GRCh38]
Chr2:29462716 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.667+9C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002166623] |
Chr2:29919984 [GRCh38]
Chr2:30142850 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3836+16C>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002170132] |
Chr2:29209770 [GRCh38]
Chr2:29432636 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3360-16C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002148914] |
Chr2:29222623 [GRCh38]
Chr2:29445489 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2816-18_2816-14del |
microsatellite |
Neuroblastoma, susceptibility to, 3 [RCV002105966] |
Chr2:29227686..29227690 [GRCh38]
Chr2:29450552..29450556 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3451-14C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002104650] |
Chr2:29222422 [GRCh38]
Chr2:29445288 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2041+13C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002129028] |
Chr2:29275086 [GRCh38]
Chr2:29497952 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3903C>T (p.Phe1301=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002208178] |
Chr2:29207206 [GRCh38]
Chr2:29430072 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1095G>T (p.Leu365=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002104731] |
Chr2:29531974 [GRCh38]
Chr2:29754840 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1737G>A (p.Arg579=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002086898] |
Chr2:29296968 [GRCh38]
Chr2:29519834 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3360-18G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002104691] |
Chr2:29222625 [GRCh38]
Chr2:29445491 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1817+19C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002210408] |
Chr2:29296869 [GRCh38]
Chr2:29519735 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2633-11T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002164848] |
Chr2:29229077 [GRCh38]
Chr2:29451943 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.318G>C (p.Pro106=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002324526]|Neuroblastoma, susceptibility to, 3 [RCV002167398] |
Chr2:29920342 [GRCh38]
Chr2:30143208 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1283-12T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002128394] |
Chr2:29328493 [GRCh38]
Chr2:29551359 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1154+16T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002148197] |
Chr2:29531899 [GRCh38]
Chr2:29754765 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2586G>A (p.Glu862=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002427524]|Neuroblastoma, susceptibility to, 3 [RCV002092351] |
Chr2:29232350 [GRCh38]
Chr2:29455216 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3359+17C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002130431] |
Chr2:29223325 [GRCh38]
Chr2:29446191 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.492G>A (p.Gly164=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002337174]|Neuroblastoma, susceptibility to, 3 [RCV002092440] |
Chr2:29920168 [GRCh38]
Chr2:30143034 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.2204+15G>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002124656] |
Chr2:29251090 [GRCh38]
Chr2:29473956 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.3068-12C>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002210502] |
Chr2:29225577 [GRCh38]
Chr2:29448443 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1309C>T (p.Leu437=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002168246] |
Chr2:29328455 [GRCh38]
Chr2:29551321 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1154+20C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002190649] |
Chr2:29531895 [GRCh38]
Chr2:29754761 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2914+19A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002189048] |
Chr2:29227555 [GRCh38]
Chr2:29450421 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1282+19C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002190580] |
Chr2:29383713 [GRCh38]
Chr2:29606579 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.978A>G (p.Ser326=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002382333]|Neuroblastoma, susceptibility to, 3 [RCV002086090] |
Chr2:29532091 [GRCh38]
Chr2:29754957 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2488-15G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002186561] |
Chr2:29232463 [GRCh38]
Chr2:29455329 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3850A>C (p.Arg1284=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002190879] |
Chr2:29207259 [GRCh38]
Chr2:29430125 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2355+19_2355+20delinsAA |
indel |
Neuroblastoma, susceptibility to, 3 [RCV002090916] |
Chr2:29239660..29239661 [GRCh38]
Chr2:29462526..29462527 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1476C>A (p.Gly492=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002391148]|Neuroblastoma, susceptibility to, 3 [RCV002092529] |
Chr2:29320821 [GRCh38]
Chr2:29543687 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3938+7_3938+8dup |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV002166736] |
Chr2:29207162..29207163 [GRCh38]
Chr2:29430028..29430029 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4383C>T (p.Ile1461=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002331691]|Neuroblastoma, susceptibility to, 3 [RCV002188005] |
Chr2:29193704 [GRCh38]
Chr2:29416570 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2313G>T (p.Leu771=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002209381] |
Chr2:29239722 [GRCh38]
Chr2:29462588 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1546+7C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002090614] |
Chr2:29320744 [GRCh38]
Chr2:29543610 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.132C>T (p.Leu44=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002089106] |
Chr2:29920528 [GRCh38]
Chr2:30143394 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3516-28_3516-14del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV002207525] |
Chr2:29220849..29220863 [GRCh38]
Chr2:29443715..29443729 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1497T>A (p.Pro499=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002124476] |
Chr2:29320800 [GRCh38]
Chr2:29543666 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1963C>T (p.Leu655=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002086345] |
Chr2:29275177 [GRCh38]
Chr2:29498043 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.321G>C (p.Gly107=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002188333] |
Chr2:29920339 [GRCh38]
Chr2:30143205 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.2205-17T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002084848] |
Chr2:29239847 [GRCh38]
Chr2:29462713 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1546+9G>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002207756] |
Chr2:29320742 [GRCh38]
Chr2:29543608 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4793C>T (p.Ala1598Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002337210]|Neuroblastoma, susceptibility to, 3 [RCV002187358] |
Chr2:29193294 [GRCh38]
Chr2:29416160 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3515+15A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002187409] |
Chr2:29222329 [GRCh38]
Chr2:29445195 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1415-17C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002091003] |
Chr2:29320899 [GRCh38]
Chr2:29543765 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2778G>A (p.Gly926=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002104773] |
Chr2:29228921 [GRCh38]
Chr2:29451787 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4165-16del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV002091190] |
Chr2:29193938 [GRCh38]
Chr2:29416804 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4479C>T (p.His1493=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002331687]|Neuroblastoma, susceptibility to, 3 [RCV002187696] |
Chr2:29193608 [GRCh38]
Chr2:29416474 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4224A>G (p.Glu1408=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002146342] |
Chr2:29193863 [GRCh38]
Chr2:29416729 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1546+17G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002088842] |
Chr2:29320734 [GRCh38]
Chr2:29543600 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1155-19T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002089879] |
Chr2:29383878 [GRCh38]
Chr2:29606744 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3939-11C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002191862] |
Chr2:29197687 [GRCh38]
Chr2:29420553 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3938+12A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002190210] |
Chr2:29207159 [GRCh38]
Chr2:29430025 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2356-19G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002190283] |
Chr2:29233715 [GRCh38]
Chr2:29456581 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2373G>A (p.Gln791=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002190246] |
Chr2:29233679 [GRCh38]
Chr2:29456545 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1155-11A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002112164] |
Chr2:29383870 [GRCh38]
Chr2:29606736 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2448A>G (p.Gly816=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002085403] |
Chr2:29233604 [GRCh38]
Chr2:29456470 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2397T>C (p.Asn799=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002190324] |
Chr2:29233655 [GRCh38]
Chr2:29456521 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3492C>T (p.Phe1164=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002192577] |
Chr2:29222367 [GRCh38]
Chr2:29445233 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.393C>A (p.Ser131=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002352870]|Neuroblastoma, susceptibility to, 3 [RCV002152851] |
Chr2:29920267 [GRCh38]
Chr2:30143133 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.667+11C>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002212405] |
Chr2:29919982 [GRCh38]
Chr2:30142848 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4862G>A (p.Ter1621=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003161672]|Neuroblastoma, susceptibility to, 3 [RCV002195924] |
Chr2:29193225 [GRCh38]
Chr2:29416091 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2406A>G (p.Glu802=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002214591] |
Chr2:29233646 [GRCh38]
Chr2:29456512 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.726A>G (p.Thr242=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002382399]|Neuroblastoma, susceptibility to, 3 [RCV002106104] |
Chr2:29717639 [GRCh38]
Chr2:29940505 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1392A>G (p.Gly464=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002391348]|Neuroblastoma, susceptibility to, 3 [RCV002191131] |
Chr2:29328372 [GRCh38]
Chr2:29551238 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1347C>T (p.Leu449=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002097753] |
Chr2:29328417 [GRCh38]
Chr2:29551283 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4740G>A (p.Gly1580=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002106277] |
Chr2:29193347 [GRCh38]
Chr2:29416213 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2815+14G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002093337] |
Chr2:29228870 [GRCh38]
Chr2:29451736 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1912+15A>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002215385] |
Chr2:29275387 [GRCh38]
Chr2:29498253 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2205-19G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002104319] |
Chr2:29239849 [GRCh38]
Chr2:29462715 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3067+15C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002206214] |
Chr2:29226907 [GRCh38]
Chr2:29449773 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3515+16G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002193587] |
Chr2:29222328 [GRCh38]
Chr2:29445194 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3744-19G>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002196725] |
Chr2:29209897 [GRCh38]
Chr2:29432763 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2915-4C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002134550] |
Chr2:29227078 [GRCh38]
Chr2:29449944 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1095G>C (p.Leu365=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002171420] |
Chr2:29531974 [GRCh38]
Chr2:29754840 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1155-19dup |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV002170839] |
Chr2:29383877..29383878 [GRCh38]
Chr2:29606743..29606744 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.668-6G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002071102] |
Chr2:29717703 [GRCh38]
Chr2:29940569 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2356-16C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002078031] |
Chr2:29233712 [GRCh38]
Chr2:29456578 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.1817+18C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002165792] |
Chr2:29296870 [GRCh38]
Chr2:29519736 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.952+15G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002071146] |
Chr2:29694835 [GRCh38]
Chr2:29917701 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1890C>A (p.Ile630=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002214964] |
Chr2:29275424 [GRCh38]
Chr2:29498290 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.667+17T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002080571] |
Chr2:29919976 [GRCh38]
Chr2:30142842 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.2856G>A (p.Gly952=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002149095] |
Chr2:29227632 [GRCh38]
Chr2:29450498 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2204+19G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002092679] |
Chr2:29251086 [GRCh38]
Chr2:29473952 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2815+16G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002113294] |
Chr2:29228868 [GRCh38]
Chr2:29451734 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1236C>T (p.Arg412=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002363630]|Neuroblastoma, susceptibility to, 3 [RCV002171089] |
Chr2:29383778 [GRCh38]
Chr2:29606644 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2204+14A>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002111493] |
Chr2:29251091 [GRCh38]
Chr2:29473957 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3360-12del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV002170466] |
Chr2:29222619 [GRCh38]
Chr2:29445485 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2880T>C (p.Ser960=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002194863] |
Chr2:29227608 [GRCh38]
Chr2:29450474 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3173-11C>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002095580] |
Chr2:29223539 [GRCh38]
Chr2:29446405 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.48G>C (p.Thr16=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002117061] |
Chr2:29920612 [GRCh38]
Chr2:30143478 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1578C>A (p.Val526=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002216249] |
Chr2:29318373 [GRCh38]
Chr2:29541239 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4860C>T (p.Pro1620=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002109855] |
Chr2:29193227 [GRCh38]
Chr2:29416093 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4465T>C (p.Leu1489=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002075383] |
Chr2:29193622 [GRCh38]
Chr2:29416488 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2356-11del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV002075420] |
Chr2:29233707 [GRCh38]
Chr2:29456573 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.564C>T (p.Arg188=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002194276] |
Chr2:29920096 [GRCh38]
Chr2:30142962 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3451-8C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002153221] |
Chr2:29222416 [GRCh38]
Chr2:29445282 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2052G>C (p.Leu684=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002423290]|Neuroblastoma, susceptibility to, 3 [RCV002077389] |
Chr2:29251257 [GRCh38]
Chr2:29474123 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3173-6C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002133118] |
Chr2:29223534 [GRCh38]
Chr2:29446400 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2633-15T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002215758] |
Chr2:29229081 [GRCh38]
Chr2:29451947 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3360-11C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002080808] |
Chr2:29222618 [GRCh38]
Chr2:29445484 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.668-5T>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002197331] |
Chr2:29717702 [GRCh38]
Chr2:29940568 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1857C>T (p.Ser619=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002407350]|Neuroblastoma, susceptibility to, 3 [RCV002175090] |
Chr2:29275457 [GRCh38]
Chr2:29498323 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2250C>T (p.Thr750=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002171674] |
Chr2:29239785 [GRCh38]
Chr2:29462651 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2247C>T (p.Asn749=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002427530]|Neuroblastoma, susceptibility to, 3 [RCV002087349] |
Chr2:29239788 [GRCh38]
Chr2:29462654 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1272C>T (p.Asn424=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002443254]|Neuroblastoma, susceptibility to, 3 [RCV002174053] |
Chr2:29383742 [GRCh38]
Chr2:29606608 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2816-19G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002110219] |
Chr2:29227691 [GRCh38]
Chr2:29450557 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4644G>C (p.Gly1548=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003161673]|Neuroblastoma, susceptibility to, 3 [RCV002195944] |
Chr2:29193443 [GRCh38]
Chr2:29416309 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3451-20C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002116885] |
Chr2:29222428 [GRCh38]
Chr2:29445294 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2355+7G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002113460] |
Chr2:29239673 [GRCh38]
Chr2:29462539 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1479A>G (p.Thr493=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002391325]|Neuroblastoma, susceptibility to, 3 [RCV002151062] |
Chr2:29320818 [GRCh38]
Chr2:29543684 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4073+16G>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002080868] |
Chr2:29197526 [GRCh38]
Chr2:29420392 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2487+11T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002216108] |
Chr2:29233554 [GRCh38]
Chr2:29456420 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2041+12G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002171313] |
Chr2:29275087 [GRCh38]
Chr2:29497953 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1913-16G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002194648] |
Chr2:29275243 [GRCh38]
Chr2:29498109 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1414+12G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002165339] |
Chr2:29328338 [GRCh38]
Chr2:29551204 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3744-5C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002346382]|Neuroblastoma, susceptibility to, 3 [RCV002209132] |
Chr2:29209883 [GRCh38]
Chr2:29432749 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.1933C>T (p.Leu645=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002407402]|Neuroblastoma, susceptibility to, 3 [RCV002090759] |
Chr2:29275207 [GRCh38]
Chr2:29498073 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2633-18C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002170765] |
Chr2:29229084 [GRCh38]
Chr2:29451950 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3645+9G>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002078710] |
Chr2:29220697 [GRCh38]
Chr2:29443563 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1638T>G (p.Ser546=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002215866] |
Chr2:29318313 [GRCh38]
Chr2:29541179 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.198C>T (p.Val66=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002192742] |
Chr2:29920462 [GRCh38]
Chr2:30143328 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4164+18T>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002131892] |
Chr2:29196752 [GRCh38]
Chr2:29419618 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2041+14T>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002094581] |
Chr2:29275085 [GRCh38]
Chr2:29497951 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1458C>T (p.Phe486=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002206269] |
Chr2:29320839 [GRCh38]
Chr2:29543705 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3939-18C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002149034] |
Chr2:29197694 [GRCh38]
Chr2:29420560 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3744-12_3744-8del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV002079444] |
Chr2:29209886..29209890 [GRCh38]
Chr2:29432752..29432756 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3172+12G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002207885] |
Chr2:29225449 [GRCh38]
Chr2:29448315 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2994C>T (p.Asp998=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002092622] |
Chr2:29226995 [GRCh38]
Chr2:29449861 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3068-13A>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002112569] |
Chr2:29225578 [GRCh38]
Chr2:29448444 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1071C>T (p.Pro357=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003161475]|Neuroblastoma, susceptibility to, 3 [RCV002112495] |
Chr2:29531998 [GRCh38]
Chr2:29754864 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3743+9A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002213840] |
Chr2:29213975 [GRCh38]
Chr2:29436841 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.915T>C (p.Asp305=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002074636] |
Chr2:29694887 [GRCh38]
Chr2:29917753 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1641A>G (p.Pro547=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002104594] |
Chr2:29318310 [GRCh38]
Chr2:29541176 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.788-12C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002205298] |
Chr2:29695026 [GRCh38]
Chr2:29917892 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1546+8T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002130741] |
Chr2:29320743 [GRCh38]
Chr2:29543609 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3646-18G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002171730] |
Chr2:29214099 [GRCh38]
Chr2:29436965 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1547-12C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002094782] |
Chr2:29318416 [GRCh38]
Chr2:29541282 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.787+14T>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002087108] |
Chr2:29717564 [GRCh38]
Chr2:29940430 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2520T>C (p.Ile840=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002454457]|Neuroblastoma, susceptibility to, 3 [RCV002109769] |
Chr2:29232416 [GRCh38]
Chr2:29455282 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.668-17T>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002113434] |
Chr2:29717714 [GRCh38]
Chr2:29940580 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2508G>T (p.Val836=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002171767] |
Chr2:29232428 [GRCh38]
Chr2:29455294 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3465G>A (p.Val1155=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002174249] |
Chr2:29222394 [GRCh38]
Chr2:29445260 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1932C>T (p.Ile644=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002409601]|Neuroblastoma, susceptibility to, 3 [RCV002174261] |
Chr2:29275208 [GRCh38]
Chr2:29498074 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3942C>G (p.Ser1314=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002171824] |
Chr2:29197673 [GRCh38]
Chr2:29420539 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3264C>A (p.Ile1088=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002079046] |
Chr2:29223437 [GRCh38]
Chr2:29446303 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.360C>T (p.Ala120=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002115405] |
Chr2:29920300 [GRCh38]
Chr2:30143166 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4590G>A (p.Arg1530=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003382823]|Neuroblastoma, susceptibility to, 3 [RCV002096864] |
Chr2:29193497 [GRCh38]
Chr2:29416363 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4548C>T (p.Thr1516=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002094199] |
Chr2:29193539 [GRCh38]
Chr2:29416405 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.668-20T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002172523] |
Chr2:29717717 [GRCh38]
Chr2:29940583 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.990G>A (p.Lys330=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002165192] |
Chr2:29532079 [GRCh38]
Chr2:29754945 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4164+7C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002188982] |
Chr2:29196763 [GRCh38]
Chr2:29419629 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.667+8G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002150685] |
Chr2:29919985 [GRCh38]
Chr2:30142851 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4073+17A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002096280] |
Chr2:29197525 [GRCh38]
Chr2:29420391 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2356-16del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV002172641] |
Chr2:29233712 [GRCh38]
Chr2:29456578 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.668-13T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002079740] |
Chr2:29717710 [GRCh38]
Chr2:29940576 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4665G>A (p.Leu1555=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002214958] |
Chr2:29193422 [GRCh38]
Chr2:29416288 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.788-17C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002195804] |
Chr2:29695031 [GRCh38]
Chr2:29917897 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2076G>T (p.Gly692=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002196975] |
Chr2:29251233 [GRCh38]
Chr2:29474099 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1368C>T (p.Asp456=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002187944] |
Chr2:29328396 [GRCh38]
Chr2:29551262 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1149G>A (p.Lys383=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002454377]|Neuroblastoma, susceptibility to, 3 [RCV002192506] |
Chr2:29531920 [GRCh38]
Chr2:29754786 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3240G>A (p.Leu1080=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002325673]|Neuroblastoma, susceptibility to, 3 [RCV002134058]|not provided [RCV003426352] |
Chr2:29223461 [GRCh38]
Chr2:29446327 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3068-13A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002153442] |
Chr2:29225578 [GRCh38]
Chr2:29448444 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3255C>A (p.Thr1085=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002443168]|Neuroblastoma, susceptibility to, 3 [RCV002116964] |
Chr2:29223446 [GRCh38]
Chr2:29446312 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4165-12C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002153293] |
Chr2:29193934 [GRCh38]
Chr2:29416800 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.756C>T (p.Ser252=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002174579] |
Chr2:29717609 [GRCh38]
Chr2:29940475 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.285C>T (p.Cys95=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002434517]|Neuroblastoma, susceptibility to, 3 [RCV002149822] |
Chr2:29920375 [GRCh38]
Chr2:30143241 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.2204+20A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002113741] |
Chr2:29251085 [GRCh38]
Chr2:29473951 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.952+18G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002151570] |
Chr2:29694832 [GRCh38]
Chr2:29917698 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4073+10T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002105154] |
Chr2:29197532 [GRCh38]
Chr2:29420398 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2205-10C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002188055] |
Chr2:29239840 [GRCh38]
Chr2:29462706 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3359+12G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002168317] |
Chr2:29223330 [GRCh38]
Chr2:29446196 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3646-14C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002121106] |
Chr2:29214095 [GRCh38]
Chr2:29436961 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4278C>T (p.Val1426=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002331843]|Neuroblastoma, susceptibility to, 3 [RCV002199276] |
Chr2:29193809 [GRCh38]
Chr2:29416675 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3450+12C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002101270] |
Chr2:29222505 [GRCh38]
Chr2:29445371 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3646-20C>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002101803] |
Chr2:29214101 [GRCh38]
Chr2:29436967 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.667+13C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002121382] |
Chr2:29919980 [GRCh38]
Chr2:30142846 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.2301G>A (p.Lys767=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002443135]|Neuroblastoma, susceptibility to, 3 [RCV002218275] |
Chr2:29239734 [GRCh38]
Chr2:29462600 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3837-20T>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002201381] |
Chr2:29207292 [GRCh38]
Chr2:29430158 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4089T>C (p.Thr1363=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002179131] |
Chr2:29196845 [GRCh38]
Chr2:29419711 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2658C>T (p.Asn886=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002216796] |
Chr2:29229041 [GRCh38]
Chr2:29451907 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3516-9G>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002159954] |
Chr2:29220844 [GRCh38]
Chr2:29443710 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.9C>T (p.Ala3=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002119583] |
Chr2:29920651 [GRCh38]
Chr2:30143517 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4074-17T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002202105] |
Chr2:29196877 [GRCh38]
Chr2:29419743 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1668T>C (p.Ile556=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002121880] |
Chr2:29297037 [GRCh38]
Chr2:29519903 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1817+13C>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002217192] |
Chr2:29296875 [GRCh38]
Chr2:29519741 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1065G>A (p.Leu355=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002409498]|Neuroblastoma, susceptibility to, 3 [RCV002100562] |
Chr2:29532004 [GRCh38]
Chr2:29754870 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2042-9G>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002204126] |
Chr2:29251276 [GRCh38]
Chr2:29474142 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1296C>T (p.Gly432=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002382268]|Neuroblastoma, susceptibility to, 3 [RCV002154943] |
Chr2:29328468 [GRCh38]
Chr2:29551334 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1546+16T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002141897] |
Chr2:29320735 [GRCh38]
Chr2:29543601 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3147C>T (p.Val1049=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002325655]|Neuroblastoma, susceptibility to, 3 [RCV002082387] |
Chr2:29225486 [GRCh38]
Chr2:29448352 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3231G>A (p.Glu1077=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002325700]|Neuroblastoma, susceptibility to, 3 [RCV002200950] |
Chr2:29223470 [GRCh38]
Chr2:29446336 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2042-20C>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002103139] |
Chr2:29251287 [GRCh38]
Chr2:29474153 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.651C>T (p.Phe217=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002361477]|Neuroblastoma, susceptibility to, 3 [RCV002217781] |
Chr2:29920009 [GRCh38]
Chr2:30142875 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.2042-18T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002101288] |
Chr2:29251285 [GRCh38]
Chr2:29474151 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.667+14G>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002217879] |
Chr2:29919979 [GRCh38]
Chr2:30142845 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1254C>T (p.Asp418=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002164675] |
Chr2:29383760 [GRCh38]
Chr2:29606626 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.668-18C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002164684] |
Chr2:29717715 [GRCh38]
Chr2:29940581 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1993A>C (p.Lys665Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002257342] |
Chr2:29275147 [GRCh38]
Chr2:29498013 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4074-11T>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002140830] |
Chr2:29196871 [GRCh38]
Chr2:29419737 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4419G>A (p.Gly1473=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002155834] |
Chr2:29193668 [GRCh38]
Chr2:29416534 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2967C>T (p.His989=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002099727] |
Chr2:29227022 [GRCh38]
Chr2:29449888 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3645+14A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002083316] |
Chr2:29220692 [GRCh38]
Chr2:29443558 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1817+20C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002083194] |
Chr2:29296868 [GRCh38]
Chr2:29519734 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3359+18G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002083332] |
Chr2:29223324 [GRCh38]
Chr2:29446190 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3173-11C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002137405] |
Chr2:29223539 [GRCh38]
Chr2:29446405 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.788-19C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002175617] |
Chr2:29695033 [GRCh38]
Chr2:29917899 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.561C>T (p.Ile187=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002346358]|Neuroblastoma, susceptibility to, 3 [RCV002177512] |
Chr2:29920099 [GRCh38]
Chr2:30142965 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.2142G>A (p.Val714=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003308026]|Neuroblastoma, susceptibility to, 3 [RCV002163664] |
Chr2:29251167 [GRCh38]
Chr2:29474033 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.953-4C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002102387] |
Chr2:29532120 [GRCh38]
Chr2:29754986 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3360-17T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002156583] |
Chr2:29222624 [GRCh38]
Chr2:29445490 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3972T>A (p.Ser1324=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002204296] |
Chr2:29197643 [GRCh38]
Chr2:29420509 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.838C>T (p.Leu280=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002217336] |
Chr2:29694964 [GRCh38]
Chr2:29917830 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1154+16T>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002156902] |
Chr2:29531899 [GRCh38]
Chr2:29754765 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2632+17G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002099269] |
Chr2:29232287 [GRCh38]
Chr2:29455153 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2895G>A (p.Leu965=) |
single nucleotide variant |
ALK-related condition [RCV003950876]|Neuroblastoma, susceptibility to, 3 [RCV002176718] |
Chr2:29227593 [GRCh38]
Chr2:29450459 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3067+17del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV002122761] |
Chr2:29226905 [GRCh38]
Chr2:29449771 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.3450+11G>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002182523] |
Chr2:29222506 [GRCh38]
Chr2:29445372 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.291G>T (p.Pro97=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002255985] |
Chr2:29920369 [GRCh38]
Chr2:30143235 [GRCh37]
Chr2:2p23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_004304.5(ALK):c.790C>T (p.Leu264=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002201476] |
Chr2:29695012 [GRCh38]
Chr2:29917878 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2091C>A (p.Thr697=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002119415] |
Chr2:29251218 [GRCh38]
Chr2:29474084 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2915-19C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002199695] |
Chr2:29227093 [GRCh38]
Chr2:29449959 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.861C>T (p.Ser287=) |
single nucleotide variant |
ALK-related condition [RCV003933492]|Neuroblastoma, susceptibility to, 3 [RCV002162951] |
Chr2:29694941 [GRCh38]
Chr2:29917807 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2193C>A (p.Thr731=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003161532]|Neuroblastoma, susceptibility to, 3 [RCV002137423] |
Chr2:29251116 [GRCh38]
Chr2:29473982 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.952+17T>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002179072] |
Chr2:29694833 [GRCh38]
Chr2:29917699 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2199C>G (p.Thr733=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002117669] |
Chr2:29251110 [GRCh38]
Chr2:29473976 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4713G>A (p.Leu1571=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002163205] |
Chr2:29193374 [GRCh38]
Chr2:29416240 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4073+12T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002184678] |
Chr2:29197530 [GRCh38]
Chr2:29420396 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3646-13T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002256935]|Neuroblastoma, susceptibility to, 3 [RCV002140879] |
Chr2:29214094 [GRCh38]
Chr2:29436960 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.2915-12C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002200208] |
Chr2:29227086 [GRCh38]
Chr2:29449952 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1482G>A (p.Leu494=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002391173]|Neuroblastoma, susceptibility to, 3 [RCV002202334] |
Chr2:29320815 [GRCh38]
Chr2:29543681 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3741C>T (p.His1247=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003308045]|Neuroblastoma, susceptibility to, 3 [RCV002198637] |
Chr2:29213986 [GRCh38]
Chr2:29436852 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3173-14C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002200607] |
Chr2:29223542 [GRCh38]
Chr2:29446408 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1648-11C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002198818] |
Chr2:29297068 [GRCh38]
Chr2:29519934 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4614C>T (p.Ser1538=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002198960] |
Chr2:29193473 [GRCh38]
Chr2:29416339 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2633-17C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002219698] |
Chr2:29229083 [GRCh38]
Chr2:29451949 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3360-20T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002183538] |
Chr2:29222627 [GRCh38]
Chr2:29445493 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1941T>C (p.Asn647=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002409548]|Neuroblastoma, susceptibility to, 3 [RCV002099194] |
Chr2:29275199 [GRCh38]
Chr2:29498065 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.953-20T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002082815] |
Chr2:29532136 [GRCh38]
Chr2:29755002 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4073+20A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002220043] |
Chr2:29197522 [GRCh38]
Chr2:29420388 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2632+16C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002136917] |
Chr2:29232288 [GRCh38]
Chr2:29455154 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.417G>A (p.Lys139=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002331731]|Neuroblastoma, susceptibility to, 3 [RCV002119486] |
Chr2:29920243 [GRCh38]
Chr2:30143109 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.2610A>G (p.Leu870=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002159136] |
Chr2:29232326 [GRCh38]
Chr2:29455192 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2334G>A (p.Gln778=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002454550]|Neuroblastoma, susceptibility to, 3 [RCV002159138] |
Chr2:29239701 [GRCh38]
Chr2:29462567 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1817+7T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002180865] |
Chr2:29296881 [GRCh38]
Chr2:29519747 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4194G>T (p.Pro1398=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002197814] |
Chr2:29193893 [GRCh38]
Chr2:29416759 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4116C>T (p.Asp1372=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002324546]|Neuroblastoma, susceptibility to, 3 [RCV002197851] |
Chr2:29196818 [GRCh38]
Chr2:29419684 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1414+18C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002119558] |
Chr2:29328332 [GRCh38]
Chr2:29551198 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3515+12GA[2] |
microsatellite |
Neuroblastoma, susceptibility to, 3 [RCV002100087] |
Chr2:29222327..29222328 [GRCh38]
Chr2:29445193..29445194 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.787+8T>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002203162] |
Chr2:29717570 [GRCh38]
Chr2:29940436 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.396G>A (p.Val132=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002199818] |
Chr2:29920264 [GRCh38]
Chr2:30143130 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1818-17C>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002123254] |
Chr2:29275513 [GRCh38]
Chr2:29498379 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4074-14G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002140714] |
Chr2:29196874 [GRCh38]
Chr2:29419740 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.238C>T (p.Leu80=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002203289] |
Chr2:29920422 [GRCh38]
Chr2:30143288 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.2550G>A (p.Gly850=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002427706]|Neuroblastoma, susceptibility to, 3 [RCV002156081] |
Chr2:29232386 [GRCh38]
Chr2:29455252 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1155-12C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002137828] |
Chr2:29383871 [GRCh38]
Chr2:29606737 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1761T>C (p.Tyr587=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002398237]|Neuroblastoma, susceptibility to, 3 [RCV002120032] |
Chr2:29296944 [GRCh38]
Chr2:29519810 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3450+16C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002123133] |
Chr2:29222501 [GRCh38]
Chr2:29445367 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2204+19G>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002159582] |
Chr2:29251086 [GRCh38]
Chr2:29473952 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3743+13G>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002160041] |
Chr2:29213971 [GRCh38]
Chr2:29436837 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3645+16T>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002177803] |
Chr2:29220690 [GRCh38]
Chr2:29443556 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.216G>T (p.Leu72=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002162094] |
Chr2:29920444 [GRCh38]
Chr2:30143310 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3336G>T (p.Pro1112=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002325687]|Neuroblastoma, susceptibility to, 3 [RCV002156594] |
Chr2:29223365 [GRCh38]
Chr2:29446231 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4029C>G (p.Thr1343=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002141564] |
Chr2:29197586 [GRCh38]
Chr2:29420452 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3451-11T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002104113] |
Chr2:29222419 [GRCh38]
Chr2:29445285 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.573C>T (p.Pro191=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002346543]|Neuroblastoma, susceptibility to, 3 [RCV002181637] |
Chr2:29920087 [GRCh38]
Chr2:30142953 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4260G>T (p.Gly1420=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002198661] |
Chr2:29193827 [GRCh38]
Chr2:29416693 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.787+17T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002098829] |
Chr2:29717561 [GRCh38]
Chr2:29940427 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2041+15C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002123634] |
Chr2:29275084 [GRCh38]
Chr2:29497950 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.4653G>A (p.Pro1551=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002331842]|Neuroblastoma, susceptibility to, 3 [RCV002203901] |
Chr2:29193434 [GRCh38]
Chr2:29416300 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4605G>A (p.Leu1535=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002337368]|Neuroblastoma, susceptibility to, 3 [RCV002143795] |
Chr2:29193482 [GRCh38]
Chr2:29416348 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1125C>T (p.Ile375=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002183879] |
Chr2:29531944 [GRCh38]
Chr2:29754810 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1648-15T>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002122182] |
Chr2:29297072 [GRCh38]
Chr2:29519938 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4165-11C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002160441] |
Chr2:29193933 [GRCh38]
Chr2:29416799 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1647+13G>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002198853] |
Chr2:29318291 [GRCh38]
Chr2:29541157 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2559A>G (p.Thr853=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002178248] |
Chr2:29232377 [GRCh38]
Chr2:29455243 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.201C>T (p.Tyr67=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002082475] |
Chr2:29920459 [GRCh38]
Chr2:30143325 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.780C>T (p.Ser260=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002101133] |
Chr2:29717585 [GRCh38]
Chr2:29940451 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2915-11C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002162755] |
Chr2:29227085 [GRCh38]
Chr2:29449951 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.120C>T (p.Pro40=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002201065] |
Chr2:29920540 [GRCh38]
Chr2:30143406 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3196C>T (p.Leu1066=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002184218] |
Chr2:29223505 [GRCh38]
Chr2:29446371 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2488-20T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002184219] |
Chr2:29232468 [GRCh38]
Chr2:29455334 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.952+12G>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002139956] |
Chr2:29694838 [GRCh38]
Chr2:29917704 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1154+11C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002124162] |
Chr2:29531904 [GRCh38]
Chr2:29754770 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4779A>G (p.Leu1593=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002337399]|Neuroblastoma, susceptibility to, 3 [RCV002201041] |
Chr2:29193308 [GRCh38]
Chr2:29416174 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4857G>A (p.Gly1619=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003161371]|Neuroblastoma, susceptibility to, 3 [RCV002180268] |
Chr2:29193230 [GRCh38]
Chr2:29416096 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4164+10T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002101557] |
Chr2:29196760 [GRCh38]
Chr2:29419626 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2205-19G>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002218195] |
Chr2:29239849 [GRCh38]
Chr2:29462715 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2488-5G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002159243] |
Chr2:29232453 [GRCh38]
Chr2:29455319 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.667+13C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002218384] |
Chr2:29919980 [GRCh38]
Chr2:30142846 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1842G>C (p.Trp614Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003358123]|not provided [RCV003109886] |
Chr2:29275472 [GRCh38]
Chr2:29498338 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1252G>C (p.Asp418His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003110479] |
Chr2:29383762 [GRCh38]
Chr2:29606628 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1278T>G (p.Ser426Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003110607] |
Chr2:29383736 [GRCh38]
Chr2:29606602 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.862T>G (p.Trp288Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003274323]|Neuroblastoma, susceptibility to, 3 [RCV003118345] |
Chr2:29694940 [GRCh38]
Chr2:29917806 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2753G>C (p.Arg918Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003368044]|Neuroblastoma, susceptibility to, 3 [RCV003111950] |
Chr2:29228946 [GRCh38]
Chr2:29451812 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4476C>T (p.Val1492=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003112673] |
Chr2:29193611 [GRCh38]
Chr2:29416477 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4830A>G (p.Lys1610=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003115474] |
Chr2:29193257 [GRCh38]
Chr2:29416123 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NC_000002.11:g.(?_29419626)_(29419736_?)del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV003113421] |
Chr2:29419626..29419736 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NC_000002.11:g.(?_29754771)_(29754992_?)del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV003113422] |
Chr2:29754771..29754992 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NC_000002.11:g.(?_29455160)_(29456572_?)del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV003113423] |
Chr2:29455160..29456572 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NC_000002.11:g.(?_29606588)_(29940573_?)del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV003113424] |
Chr2:29606588..29940573 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NC_000002.11:g.(?_29419616)_(29420562_?)del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV003113425] |
Chr2:29419616..29420562 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NC_000002.11:g.(?_29416090)_(29551357_?)del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV003113426] |
Chr2:29416090..29551357 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NC_000002.11:g.(?_29551196)_(29940583_?)dup |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV003113427] |
Chr2:29551196..29940583 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NC_000002.11:g.(?_29416090)_(30143525_?)dup |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV003113428] |
Chr2:29416090..30143525 [GRCh37]
Chr2:2p23.2-23.1 |
uncertain significance |
| NC_000002.11:g.(?_24443763)_(30143525_?)dup |
duplication |
not provided [RCV003113441] |
Chr2:24443763..30143525 [GRCh37]
Chr2:2p23.3-23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1598C>T (p.Thr533Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003121794] |
Chr2:29318353 [GRCh38]
Chr2:29541219 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.96A>G (p.Pro32=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003121330] |
Chr2:29920564 [GRCh38]
Chr2:30143430 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4675C>T (p.Pro1559Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003121362] |
Chr2:29193412 [GRCh38]
Chr2:29416278 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2456_2470dup (p.Gly823_Ala824insGlyGlyGlyGlyGly) |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV003120315] |
Chr2:29233581..29233582 [GRCh38]
Chr2:29456447..29456448 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3008A>G (p.Lys1003Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003162151]|Neuroblastoma, susceptibility to, 3 [RCV003121513] |
Chr2:29226981 [GRCh38]
Chr2:29449847 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1372C>T (p.His458Tyr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633681]|not specified [RCV003151520] |
Chr2:29328392 [GRCh38]
Chr2:29551258 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.832C>T (p.Pro278Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002255987]|Neuroblastoma, susceptibility to, 3 [RCV003517359] |
Chr2:29694970 [GRCh38]
Chr2:29917836 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1867G>T (p.Val623Leu) |
single nucleotide variant |
not provided [RCV003156427] |
Chr2:29275447 [GRCh38]
Chr2:29498313 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3203C>T (p.Ala1068Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002255986]|Neuroblastoma, susceptibility to, 3 [RCV003094262] |
Chr2:29223498 [GRCh38]
Chr2:29446364 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.448A>C (p.Ile150Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002258637]|Neuroblastoma, susceptibility to, 3 [RCV002291810] |
Chr2:29920212 [GRCh38]
Chr2:30143078 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.12C>T (p.Ile4=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002255983] |
Chr2:29920648 [GRCh38]
Chr2:30143514 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3487G>A (p.Asp1163Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002257344] |
Chr2:29222372 [GRCh38]
Chr2:29445238 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1512G>A (p.Arg504=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002258633] |
Chr2:29320785 [GRCh38]
Chr2:29543651 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2153G>T (p.Gly718Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002259256] |
Chr2:29251156 [GRCh38]
Chr2:29474022 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3092T>G (p.Leu1031Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002259257] |
Chr2:29225541 [GRCh38]
Chr2:29448407 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3951G>A (p.Val1317=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002259258] |
Chr2:29197664 [GRCh38]
Chr2:29420530 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.858G>C (p.Gln286His) |
single nucleotide variant |
not provided [RCV003229966] |
Chr2:29694944 [GRCh38]
Chr2:29917810 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3894A>T (p.Pro1298=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002366356] |
Chr2:29207215 [GRCh38]
Chr2:29430081 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3752C>T (p.Ala1251Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002349318] |
Chr2:29209870 [GRCh38]
Chr2:29432736 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2821A>G (p.Asn941Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002434983] |
Chr2:29227667 [GRCh38]
Chr2:29450533 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3900C>T (p.Ala1300=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002366414] |
Chr2:29207209 [GRCh38]
Chr2:29430075 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3620T>C (p.Phe1207Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002452299] |
Chr2:29220731 [GRCh38]
Chr2:29443597 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.622A>G (p.Ile208Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002366554] |
Chr2:29920038 [GRCh38]
Chr2:30142904 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3743+1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002349248]|Neuroblastoma, susceptibility to, 3 [RCV003094341] |
Chr2:29213983 [GRCh38]
Chr2:29436849 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1219A>G (p.Ile407Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002366609] |
Chr2:29383795 [GRCh38]
Chr2:29606661 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3633C>T (p.Thr1211=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002452373] |
Chr2:29220718 [GRCh38]
Chr2:29443584 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3621C>T (p.Phe1207=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002452305] |
Chr2:29220730 [GRCh38]
Chr2:29443596 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3743G>C (p.Arg1248Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002349251] |
Chr2:29213984 [GRCh38]
Chr2:29436850 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2823T>A (p.Asn941Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002435009]|Neuroblastoma, susceptibility to, 3 [RCV003633667] |
Chr2:29227665 [GRCh38]
Chr2:29450531 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3869T>C (p.Met1290Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002366251]|Neuroblastoma, susceptibility to, 3 [RCV003094409] |
Chr2:29207240 [GRCh38]
Chr2:29430106 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1227T>C (p.Ser409=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002366833] |
Chr2:29383787 [GRCh38]
Chr2:29606653 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3876A>T (p.Pro1292=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002366276] |
Chr2:29207233 [GRCh38]
Chr2:29430099 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3705T>C (p.Cys1235=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002348964] |
Chr2:29214022 [GRCh38]
Chr2:29436888 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3667A>G (p.Met1223Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002452606] |
Chr2:29214060 [GRCh38]
Chr2:29436926 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| Single allele |
deletion |
Adrenal cortex carcinoma [RCV003229785] |
Chr2:29446394..30142859 [GRCh37]
Chr2:2p23.2-23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2847A>C (p.Glu949Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002435307]|Neuroblastoma, susceptibility to, 3 [RCV003775397] |
Chr2:29227641 [GRCh38]
Chr2:29450507 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 |
copy number loss |
See cases [RCV002287563] |
Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13 |
pathogenic |
| NM_004304.5(ALK):c.3612C>G (p.Leu1204=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002452227] |
Chr2:29220739 [GRCh38]
Chr2:29443605 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1429G>T (p.Gly477Cys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002297035] |
Chr2:29320868 [GRCh38]
Chr2:29543734 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3744-4C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002349253] |
Chr2:29209882 [GRCh38]
Chr2:29432748 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3750T>A (p.Ile1250=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002349304] |
Chr2:29209872 [GRCh38]
Chr2:29432738 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3750T>C (p.Ile1250=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002349307] |
Chr2:29209872 [GRCh38]
Chr2:29432738 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3639T>A (p.Pro1213=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002452401]|Neuroblastoma, susceptibility to, 3 [RCV003633616] |
Chr2:29220712 [GRCh38]
Chr2:29443578 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1818G>T (p.Arg606Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002296883] |
Chr2:29275496 [GRCh38]
Chr2:29498362 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2827G>C (p.Ala943Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002435047]|Neuroblastoma, susceptibility to, 3 [RCV003465764] |
Chr2:29227661 [GRCh38]
Chr2:29450527 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.540A>G (p.Gln180=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002349394] |
Chr2:29920120 [GRCh38]
Chr2:30142986 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4390C>T (p.Arg1464Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003774982]|not provided [RCV002293821] |
Chr2:29193697 [GRCh38]
Chr2:29416563 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.643C>A (p.Leu215Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002297167] |
Chr2:29920017 [GRCh38]
Chr2:30142883 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1322T>G (p.Phe441Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002385719] |
Chr2:29328442 [GRCh38]
Chr2:29551308 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1323C>T (p.Phe441=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002385731] |
Chr2:29328441 [GRCh38]
Chr2:29551307 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3573C>T (p.Pro1191=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002455023]|Neuroblastoma, susceptibility to, 3 [RCV003633615] |
Chr2:29220778 [GRCh38]
Chr2:29443644 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2833A>G (p.Asn945Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002435141] |
Chr2:29227655 [GRCh38]
Chr2:29450521 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3319G>C (p.Asp1107His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002454746] |
Chr2:29223382 [GRCh38]
Chr2:29446248 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1962C>T (p.Asn654=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002421772] |
Chr2:29275178 [GRCh38]
Chr2:29498044 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2901C>T (p.Thr967=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002438087]|Neuroblastoma, susceptibility to, 3 [RCV003102859] |
Chr2:29227587 [GRCh38]
Chr2:29450453 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.544G>A (p.Glu182Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002349651]|Neuroblastoma, susceptibility to, 3 [RCV003096744] |
Chr2:29920116 [GRCh38]
Chr2:30142982 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.714T>G (p.Pro238=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002367540] |
Chr2:29717651 [GRCh38]
Chr2:29940517 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3654C>G (p.Pro1218=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002452500] |
Chr2:29214073 [GRCh38]
Chr2:29436939 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1088C>A (p.Ala363Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002420151] |
Chr2:29531981 [GRCh38]
Chr2:29754847 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3366G>C (p.Leu1122=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002454798] |
Chr2:29222601 [GRCh38]
Chr2:29445467 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.28C>T (p.Leu10=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002438046] |
Chr2:29920632 [GRCh38]
Chr2:30143498 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1544A>G (p.Gln515Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002297462] |
Chr2:29320753 [GRCh38]
Chr2:29543619 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3012C>G (p.Val1004=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002435791] |
Chr2:29226977 [GRCh38]
Chr2:29449843 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.552A>G (p.Arg184=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002351803] |
Chr2:29920108 [GRCh38]
Chr2:30142974 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3538G>C (p.Val1180Leu) |
single nucleotide variant |
Lung cancer [RCV002283356] |
Chr2:29220813 [GRCh38]
Chr2:29443679 [GRCh37]
Chr2:2p23.2 |
likely pathogenic |
| NM_004304.5(ALK):c.2608C>T (p.Leu870=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002437153] |
Chr2:29232328 [GRCh38]
Chr2:29455194 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1230A>G (p.Gly410=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002369326] |
Chr2:29383784 [GRCh38]
Chr2:29606650 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.424G>A (p.Val142Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002297790] |
Chr2:29920236 [GRCh38]
Chr2:30143102 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2661T>C (p.Thr887=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002437267] |
Chr2:29229038 [GRCh38]
Chr2:29451904 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.575A>G (p.Glu192Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002349955]|Neuroblastoma, susceptibility to, 3 [RCV003517397] |
Chr2:29920085 [GRCh38]
Chr2:30142951 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.815G>A (p.Cys272Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002421425] |
Chr2:29694987 [GRCh38]
Chr2:29917853 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.980C>G (p.Ala327Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002387250] |
Chr2:29532089 [GRCh38]
Chr2:29754955 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3031G>C (p.Gly1011Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002438117]|Neuroblastoma, susceptibility to, 3 [RCV003633668] |
Chr2:29226958 [GRCh38]
Chr2:29449824 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3786del (p.Gly1263fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002351173] |
Chr2:29209836 [GRCh38]
Chr2:29432702 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3576G>A (p.Arg1192=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002455038] |
Chr2:29220775 [GRCh38]
Chr2:29443641 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2874C>T (p.Phe958=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002437709]|Neuroblastoma, susceptibility to, 3 [RCV003102810] |
Chr2:29227614 [GRCh38]
Chr2:29450480 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.547G>A (p.Gly183Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002349844] |
Chr2:29920113 [GRCh38]
Chr2:30142979 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2706A>C (p.Gly902=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002437412] |
Chr2:29228993 [GRCh38]
Chr2:29451859 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3303G>A (p.Lys1101=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002454709] |
Chr2:29223398 [GRCh38]
Chr2:29446264 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3312del (p.Ile1105fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002454717] |
Chr2:29223389 [GRCh38]
Chr2:29446255 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3314T>A (p.Ile1105Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002454722] |
Chr2:29223387 [GRCh38]
Chr2:29446253 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2882C>T (p.Pro961Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002437817] |
Chr2:29227606 [GRCh38]
Chr2:29450472 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.984C>T (p.Asp328=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002387290]|Neuroblastoma, susceptibility to, 3 [RCV003517410] |
Chr2:29532085 [GRCh38]
Chr2:29754951 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2895G>C (p.Leu965=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002437973] |
Chr2:29227593 [GRCh38]
Chr2:29450459 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1957A>G (p.Arg653Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002421634] |
Chr2:29275183 [GRCh38]
Chr2:29498049 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3579C>G (p.Phe1193Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002455055]|Neuroblastoma, susceptibility to, 3 [RCV003517378] |
Chr2:29220772 [GRCh38]
Chr2:29443638 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.675C>T (p.Ser225=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002369257] |
Chr2:29717690 [GRCh38]
Chr2:29940556 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3676C>T (p.Leu1226Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002452688]|Neuroblastoma, susceptibility to, 3 [RCV003775701] |
Chr2:29214051 [GRCh38]
Chr2:29436917 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2022C>A (p.Thr674=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002419608]|Neuroblastoma, susceptibility to, 3 [RCV003101016] |
Chr2:29275118 [GRCh38]
Chr2:29497984 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1075G>A (p.Gly359Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002419761]|Neuroblastoma, susceptibility to, 3 [RCV003633662] |
Chr2:29531994 [GRCh38]
Chr2:29754860 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3393T>C (p.Tyr1131=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002451941] |
Chr2:29222574 [GRCh38]
Chr2:29445440 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2829C>T (p.Ala943=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002435068]|Neuroblastoma, susceptibility to, 3 [RCV003775387] |
Chr2:29227659 [GRCh38]
Chr2:29450525 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.33G>C (p.Pro11=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002452056] |
Chr2:29920627 [GRCh38]
Chr2:30143493 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.2884C>T (p.Leu962=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002437836] |
Chr2:29227604 [GRCh38]
Chr2:29450470 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1318T>C (p.Ser440Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002297283] |
Chr2:29328446 [GRCh38]
Chr2:29551312 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.797G>A (p.Cys266Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002419043] |
Chr2:29695005 [GRCh38]
Chr2:29917871 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.553C>T (p.Leu185=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002351880] |
Chr2:29920107 [GRCh38]
Chr2:30142973 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3584T>G (p.Leu1195Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002455108] |
Chr2:29220767 [GRCh38]
Chr2:29443633 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3588G>A (p.Leu1196=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002455117] |
Chr2:29220763 [GRCh38]
Chr2:29443629 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2035C>A (p.Pro679Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002419838] |
Chr2:29275105 [GRCh38]
Chr2:29497971 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.628G>C (p.Ala210Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002368737] |
Chr2:29920032 [GRCh38]
Chr2:30142898 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.498C>A (p.Leu166=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002351361] |
Chr2:29920162 [GRCh38]
Chr2:30143028 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3643C>T (p.Pro1215Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002454627]|Neuroblastoma, susceptibility to, 3 [RCV002301903] |
Chr2:29220708 [GRCh38]
Chr2:29443574 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1950C>G (p.Pro650=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002421529]|Neuroblastoma, susceptibility to, 3 [RCV003517425] |
Chr2:29275190 [GRCh38]
Chr2:29498056 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.264C>A (p.Arg88=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002453040]|Neuroblastoma, susceptibility to, 3 [RCV003775326] |
Chr2:29920396 [GRCh38]
Chr2:30143262 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.273A>G (p.Leu91=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002437582] |
Chr2:29920387 [GRCh38]
Chr2:30143253 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.288C>T (p.Ala96=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002437896] |
Chr2:29920372 [GRCh38]
Chr2:30143238 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.203C>T (p.Ala68Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002419903] |
Chr2:29920457 [GRCh38]
Chr2:30143323 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1952A>C (p.Lys651Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002421562] |
Chr2:29275188 [GRCh38]
Chr2:29498054 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3567C>G (p.Ser1189=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002454961] |
Chr2:29220784 [GRCh38]
Chr2:29443650 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3567C>T (p.Ser1189=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002454962] |
Chr2:29220784 [GRCh38]
Chr2:29443650 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.672T>C (p.His224=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002369163] |
Chr2:29717693 [GRCh38]
Chr2:29940559 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.954C>G (p.Gly318=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003300782]|not provided [RCV003420647] |
Chr2:29532115 [GRCh38]
Chr2:29754981 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2205-116G>A |
single nucleotide variant |
Lung adenocarcinoma [RCV003129672] |
Chr2:29239946 [GRCh38]
Chr2:29462812 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1863C>T (p.Ala621=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002414958]|Neuroblastoma, susceptibility to, 3 [RCV003774530] |
Chr2:29275451 [GRCh38]
Chr2:29498317 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.186G>T (p.Ser62=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002415084]|Neuroblastoma, susceptibility to, 3 [RCV003633658] |
Chr2:29920474 [GRCh38]
Chr2:30143340 [GRCh37]
Chr2:2p23.1 |
likely benign |
| GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3 |
copy number gain |
not provided [RCV002473946] |
Chr2:706460..35523639 [GRCh37]
Chr2:2p25.3-22.3 |
pathogenic |
| NM_004304.5(ALK):c.1806T>C (p.Asp602=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002410084] |
Chr2:29296899 [GRCh38]
Chr2:29519765 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1812T>C (p.Ser604=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002410212]|Neuroblastoma, susceptibility to, 3 [RCV003100861] |
Chr2:29296893 [GRCh38]
Chr2:29519759 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1829A>G (p.Gln610Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002410491]|Neuroblastoma, susceptibility to, 3 [RCV003097282] |
Chr2:29275485 [GRCh38]
Chr2:29498351 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4402G>A (p.Gly1468Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002302199] |
Chr2:29193685 [GRCh38]
Chr2:29416551 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2000G>C (p.Gly667Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002837720] |
Chr2:29275140 [GRCh38]
Chr2:29498006 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.435G>T (p.Leu145=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002332341] |
Chr2:29920225 [GRCh38]
Chr2:30143091 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1926C>T (p.Asp642=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002410804] |
Chr2:29275214 [GRCh38]
Chr2:29498080 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2618A>T (p.Asn873Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002303694] |
Chr2:29232318 [GRCh38]
Chr2:29455184 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| GRCh37/hg19 2p23.1(chr2:30063188-30290288)x3 |
copy number gain |
not provided [RCV002474743] |
Chr2:30063188..30290288 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4175T>C (p.Val1392Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002333427] |
Chr2:29193912 [GRCh38]
Chr2:29416778 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2111C>T (p.Ala704Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002417498] |
Chr2:29251198 [GRCh38]
Chr2:29474064 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2112C>G (p.Ala704=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002417503] |
Chr2:29251197 [GRCh38]
Chr2:29474063 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.788G>A (p.Gly263Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002412343]|Neuroblastoma, susceptibility to, 3 [RCV003633645]|not provided [RCV003229916] |
Chr2:29695014 [GRCh38]
Chr2:29917880 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2168T>A (p.Ile723Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002417930] |
Chr2:29251141 [GRCh38]
Chr2:29474007 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.594G>A (p.Val198=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002991668] |
Chr2:29920066 [GRCh38]
Chr2:30142932 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3681G>C (p.Leu1227=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002346701]|Neuroblastoma, susceptibility to, 3 [RCV003775703] |
Chr2:29214046 [GRCh38]
Chr2:29436912 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3504C>G (p.Ala1168=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002459167]|Neuroblastoma, susceptibility to, 3 [RCV003102386] |
Chr2:29222355 [GRCh38]
Chr2:29445221 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2988C>T (p.His996=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002442285] |
Chr2:29227001 [GRCh38]
Chr2:29449867 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.298A>C (p.Arg100=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002442299] |
Chr2:29920362 [GRCh38]
Chr2:30143228 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3795G>A (p.Val1265=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002363923] |
Chr2:29209827 [GRCh38]
Chr2:29432693 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1530G>A (p.Arg510=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002402967] |
Chr2:29320767 [GRCh38]
Chr2:29543633 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2127C>T (p.Asn709=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002417712] |
Chr2:29251182 [GRCh38]
Chr2:29474048 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4680T>C (p.Ser1560=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002335207] |
Chr2:29193407 [GRCh38]
Chr2:29416273 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4683G>T (p.Ser1561=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002335214] |
Chr2:29193404 [GRCh38]
Chr2:29416270 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2130G>C (p.Leu710=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002417776] |
Chr2:29251179 [GRCh38]
Chr2:29474045 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1456T>C (p.Phe486Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002391411]|Neuroblastoma, susceptibility to, 3 [RCV002300008] |
Chr2:29320841 [GRCh38]
Chr2:29543707 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3141C>A (p.Ala1047=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002320725]|Neuroblastoma, susceptibility to, 3 [RCV003633608] |
Chr2:29225492 [GRCh38]
Chr2:29448358 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4701G>A (p.Lys1567=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002335316]|Neuroblastoma, susceptibility to, 3 [RCV003633632] |
Chr2:29193386 [GRCh38]
Chr2:29416252 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4704G>A (p.Glu1568=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002335322] |
Chr2:29193383 [GRCh38]
Chr2:29416249 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.154A>G (p.Lys52Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002403331] |
Chr2:29920506 [GRCh38]
Chr2:30143372 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4725T>G (p.Arg1575=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002335438] |
Chr2:29193362 [GRCh38]
Chr2:29416228 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1194C>T (p.Asn398=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002338249] |
Chr2:29383820 [GRCh38]
Chr2:29606686 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1889T>A (p.Ile630Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003365735]|Neuroblastoma, susceptibility to, 3 [RCV002303879] |
Chr2:29275425 [GRCh38]
Chr2:29498291 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2742G>A (p.Gly914=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002439265] |
Chr2:29228957 [GRCh38]
Chr2:29451823 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3791G>A (p.Arg1264Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002353086]|Neuroblastoma, susceptibility to, 3 [RCV003517380] |
Chr2:29209831 [GRCh38]
Chr2:29432697 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.967C>T (p.Leu323Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002298095] |
Chr2:29532102 [GRCh38]
Chr2:29754968 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3218T>C (p.Leu1073Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002324655]|Neuroblastoma, susceptibility to, 3 [RCV003517373] |
Chr2:29223483 [GRCh38]
Chr2:29446349 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4734T>A (p.Pro1578=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002335490]|Neuroblastoma, susceptibility to, 3 [RCV003633633] |
Chr2:29193353 [GRCh38]
Chr2:29416219 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2526C>A (p.Ala842=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002433088] |
Chr2:29232410 [GRCh38]
Chr2:29455276 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2777G>A (p.Gly926Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002439674] |
Chr2:29228922 [GRCh38]
Chr2:29451788 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1089C>G (p.Ala363=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002443538] |
Chr2:29531980 [GRCh38]
Chr2:29754846 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3451-5C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460211] |
Chr2:29222413 [GRCh38]
Chr2:29445279 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.138C>T (p.Tyr46=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002396643] |
Chr2:29920522 [GRCh38]
Chr2:30143388 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1695C>T (p.Ser565=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002406220] |
Chr2:29297010 [GRCh38]
Chr2:29519876 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.16C>T (p.Leu6Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002406298] |
Chr2:29920644 [GRCh38]
Chr2:30143510 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4784C>T (p.Ala1595Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002304144] |
Chr2:29193303 [GRCh38]
Chr2:29416169 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3080C>A (p.Pro1027Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002304193] |
Chr2:29225553 [GRCh38]
Chr2:29448419 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3855G>T (p.Lys1285Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002363762]|Neuroblastoma, susceptibility to, 3 [RCV003098041]|not provided [RCV002306167] |
Chr2:29207254 [GRCh38]
Chr2:29430120 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4056G>C (p.Lys1352Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002321331] |
Chr2:29197559 [GRCh38]
Chr2:29420425 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3968T>C (p.Phe1323Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002375472] |
Chr2:29197647 [GRCh38]
Chr2:29420513 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4065T>C (p.Pro1355=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002321421]|Neuroblastoma, susceptibility to, 3 [RCV003094502] |
Chr2:29197550 [GRCh38]
Chr2:29420416 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3261C>T (p.Thr1087=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002324969] |
Chr2:29223440 [GRCh38]
Chr2:29446306 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1472A>C (p.Gln491Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002396953] |
Chr2:29320825 [GRCh38]
Chr2:29543691 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4225G>A (p.Glu1409Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002328069] |
Chr2:29193862 [GRCh38]
Chr2:29416728 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4227G>A (p.Glu1409=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002328077]|Neuroblastoma, susceptibility to, 3 [RCV003633624] |
Chr2:29193860 [GRCh38]
Chr2:29416726 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3435G>T (p.Leu1145=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002457064] |
Chr2:29222532 [GRCh38]
Chr2:29445398 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4005C>T (p.Asn1335=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002375688] |
Chr2:29197610 [GRCh38]
Chr2:29420476 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.81G>A (p.Gln27=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002427916] |
Chr2:29920579 [GRCh38]
Chr2:30143445 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.445G>A (p.Ala149Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002328416]|Neuroblastoma, susceptibility to, 3 [RCV003517388] |
Chr2:29920215 [GRCh38]
Chr2:30143081 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4012G>A (p.Val1338Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002304653] |
Chr2:29197603 [GRCh38]
Chr2:29420469 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3484C>T (p.Leu1162=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002457387]|Neuroblastoma, susceptibility to, 3 [RCV003099516] |
Chr2:29222375 [GRCh38]
Chr2:29445241 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.126G>A (p.Glu42=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002376087]|Neuroblastoma, susceptibility to, 3 [RCV003517407] |
Chr2:29920534 [GRCh38]
Chr2:30143400 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4503C>T (p.Ser1501=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002328712]|Neuroblastoma, susceptibility to, 3 [RCV003517391] |
Chr2:29193584 [GRCh38]
Chr2:29416450 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.144C>G (p.Arg48=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002394543] |
Chr2:29920516 [GRCh38]
Chr2:30143382 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1885T>C (p.Ser629Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002305001] |
Chr2:29275429 [GRCh38]
Chr2:29498295 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1758C>T (p.Ala586=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002401627] |
Chr2:29296947 [GRCh38]
Chr2:29519813 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.320G>C (p.Gly107Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002445426] |
Chr2:29920340 [GRCh38]
Chr2:30143206 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1628T>C (p.Ile543Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002401202] |
Chr2:29318323 [GRCh38]
Chr2:29541189 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4036G>A (p.Gly1346Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002359576] |
Chr2:29197579 [GRCh38]
Chr2:29420445 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1557A>G (p.Leu519=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002405322]|Neuroblastoma, susceptibility to, 3 [RCV003100722] |
Chr2:29318394 [GRCh38]
Chr2:29541260 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.402G>C (p.Lys134Asn) |
single nucleotide variant |
Ovarian cancer [RCV003154811] |
Chr2:29920258 [GRCh38]
Chr2:30143124 [GRCh37]
Chr2:2p23.1 |
likely pathogenic |
| NM_004304.5(ALK):c.1998C>A (p.Pro666=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002417023] |
Chr2:29275142 [GRCh38]
Chr2:29498008 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3342A>G (p.Lys1114=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002326602] |
Chr2:29223359 [GRCh38]
Chr2:29446225 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1831A>T (p.Met611Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002303718] |
Chr2:29275483 [GRCh38]
Chr2:29498349 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3269C>T (p.Thr1090Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002324995] |
Chr2:29223432 [GRCh38]
Chr2:29446298 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4218A>G (p.Glu1406=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002328000] |
Chr2:29193869 [GRCh38]
Chr2:29416735 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4626A>G (p.Pro1542=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002330382] |
Chr2:29193461 [GRCh38]
Chr2:29416327 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.291G>A (p.Pro97=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002439941]|Neuroblastoma, susceptibility to, 3 [RCV003108116] |
Chr2:29920369 [GRCh38]
Chr2:30143235 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.885C>A (p.Ser295=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002375940]|Neuroblastoma, susceptibility to, 3 [RCV003100043] |
Chr2:29694917 [GRCh38]
Chr2:29917783 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.447G>A (p.Ala149=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002328548]|Neuroblastoma, susceptibility to, 3 [RCV003094723] |
Chr2:29920213 [GRCh38]
Chr2:30143079 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1399G>A (p.Glu467Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002389184] |
Chr2:29328365 [GRCh38]
Chr2:29551231 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2192C>G (p.Thr731Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002425565]|Neuroblastoma, susceptibility to, 3 [RCV003517429] |
Chr2:29251117 [GRCh38]
Chr2:29473983 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.596G>T (p.Gly199Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002356085] |
Chr2:29920064 [GRCh38]
Chr2:30142930 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3528C>T (p.His1176=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002459374]|Neuroblastoma, susceptibility to, 3 [RCV003775652] |
Chr2:29220823 [GRCh38]
Chr2:29443689 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.759C>T (p.Phe253=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002394195] |
Chr2:29717606 [GRCh38]
Chr2:29940472 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1781A>G (p.Gln594Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002404096]|Neuroblastoma, susceptibility to, 3 [RCV003100835] |
Chr2:29296924 [GRCh38]
Chr2:29519790 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1963C>G (p.Leu655Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002423354]|Neuroblastoma, susceptibility to, 3 [RCV003633659] |
Chr2:29275177 [GRCh38]
Chr2:29498043 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.349C>G (p.Pro117Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002459104] |
Chr2:29920311 [GRCh38]
Chr2:30143177 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.600A>G (p.Arg200=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002358041] |
Chr2:29920060 [GRCh38]
Chr2:30142926 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3995G>T (p.Ser1332Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002375597] |
Chr2:29197620 [GRCh38]
Chr2:29420486 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4091A>C (p.Gln1364Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002323237] |
Chr2:29196843 [GRCh38]
Chr2:29419709 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1604C>T (p.Thr535Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002398757]|Neuroblastoma, susceptibility to, 3 [RCV003121003] |
Chr2:29318347 [GRCh38]
Chr2:29541213 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4656G>C (p.Gly1552=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002330468] |
Chr2:29193431 [GRCh38]
Chr2:29416297 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4673A>T (p.Glu1558Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002330518] |
Chr2:29193414 [GRCh38]
Chr2:29416280 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3450+2T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002457204] |
Chr2:29222515 [GRCh38]
Chr2:29445381 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3062G>C (p.Cys1021Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002296013] |
Chr2:29226927 [GRCh38]
Chr2:29449793 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3562C>T (p.Gln1188Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002339794] |
Chr2:29220789 [GRCh38]
Chr2:29443655 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.647T>G (p.Leu216Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002356206]|Neuroblastoma, susceptibility to, 3 [RCV003471354] |
Chr2:29920013 [GRCh38]
Chr2:30142879 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.400A>C (p.Lys134Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002375701]|Neuroblastoma, susceptibility to, 3 [RCV003094481] |
Chr2:29920260 [GRCh38]
Chr2:30143126 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3768C>G (p.Leu1256=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002363853] |
Chr2:29209854 [GRCh38]
Chr2:29432720 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1708G>C (p.Glu570Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002398836] |
Chr2:29296997 [GRCh38]
Chr2:29519863 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4457C>T (p.Pro1486Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002328389] |
Chr2:29193630 [GRCh38]
Chr2:29416496 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4461G>A (p.Ser1487=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002328431]|Neuroblastoma, susceptibility to, 3 [RCV003633629] |
Chr2:29193626 [GRCh38]
Chr2:29416492 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4471A>C (p.Lys1491Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002328487]|Neuroblastoma, susceptibility to, 3 [RCV003464464] |
Chr2:29193616 [GRCh38]
Chr2:29416482 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.3603G>A (p.Gly1201=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002455244]|Neuroblastoma, susceptibility to, 3 [RCV003102403] |
Chr2:29220748 [GRCh38]
Chr2:29443614 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2085C>T (p.Gly695=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002423940] |
Chr2:29251224 [GRCh38]
Chr2:29474090 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2238C>G (p.Gly746=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002428323]|Neuroblastoma, susceptibility to, 3 [RCV003517431] |
Chr2:29239797 [GRCh38]
Chr2:29462663 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2712T>C (p.His904=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002431208] |
Chr2:29228987 [GRCh38]
Chr2:29451853 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2277G>A (p.Val759=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002446024] |
Chr2:29239758 [GRCh38]
Chr2:29462624 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2096C>T (p.Ala699Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002300228] |
Chr2:29251213 [GRCh38]
Chr2:29474079 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2280G>T (p.Leu760=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002446087] |
Chr2:29239755 [GRCh38]
Chr2:29462621 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1577T>A (p.Val526Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002405735] |
Chr2:29318374 [GRCh38]
Chr2:29541240 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3798C>T (p.Ala1266=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002363934] |
Chr2:29209824 [GRCh38]
Chr2:29432690 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1185T>C (p.Arg395=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002338007] |
Chr2:29383829 [GRCh38]
Chr2:29606695 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.447G>T (p.Ala149=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002328553] |
Chr2:29920213 [GRCh38]
Chr2:30143079 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.2070C>G (p.Ala690=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002422135] |
Chr2:29251239 [GRCh38]
Chr2:29474105 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1079G>C (p.Arg360Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002424122] |
Chr2:29531990 [GRCh38]
Chr2:29754856 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.151A>C (p.Arg51=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002392385] |
Chr2:29920509 [GRCh38]
Chr2:30143375 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.144C>T (p.Arg48=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002394551] |
Chr2:29920516 [GRCh38]
Chr2:30143382 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3180C>T (p.Arg1060=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002322746] |
Chr2:29223521 [GRCh38]
Chr2:29446387 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.828T>C (p.Tyr276=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002430280] |
Chr2:29694974 [GRCh38]
Chr2:29917840 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1044C>G (p.Ala348=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002403262] |
Chr2:29532025 [GRCh38]
Chr2:29754891 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1057A>G (p.Arg353Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002399136]|Neuroblastoma, susceptibility to, 3 [RCV003517420] |
Chr2:29532012 [GRCh38]
Chr2:29754878 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1755C>A (p.Ala585=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002407549] |
Chr2:29296950 [GRCh38]
Chr2:29519816 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4515A>T (p.Pro1505=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002339947] |
Chr2:29193572 [GRCh38]
Chr2:29416438 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.474C>G (p.Pro158=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002330616] |
Chr2:29920186 [GRCh38]
Chr2:30143052 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3431C>T (p.Pro1144Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002457035] |
Chr2:29222536 [GRCh38]
Chr2:29445402 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3516C>G (p.Ser1172Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002459263] |
Chr2:29220835 [GRCh38]
Chr2:29443701 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.220C>A (p.Pro74Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002425834] |
Chr2:29920440 [GRCh38]
Chr2:30143306 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.93C>T (p.Ser31=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002373911] |
Chr2:29920567 [GRCh38]
Chr2:30143433 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.2289C>T (p.Phe763=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002446203] |
Chr2:29239746 [GRCh38]
Chr2:29462612 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2291A>G (p.Asn764Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002446236]|Neuroblastoma, susceptibility to, 3 [RCV003098779] |
Chr2:29239744 [GRCh38]
Chr2:29462610 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2292C>T (p.Asn764=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002446241] |
Chr2:29239743 [GRCh38]
Chr2:29462609 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3479A>G (p.Asp1160Gly) |
single nucleotide variant |
not provided [RCV002300817] |
Chr2:29222380 [GRCh38]
Chr2:29445246 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3807A>G (p.Gly1269=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002363979]|Neuroblastoma, susceptibility to, 3 [RCV003094373] |
Chr2:29209815 [GRCh38]
Chr2:29432681 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2175C>A (p.Ile725=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002432804]|Neuroblastoma, susceptibility to, 3 [RCV003633663] |
Chr2:29251134 [GRCh38]
Chr2:29474000 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4492A>G (p.Lys1498Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002328628] |
Chr2:29193595 [GRCh38]
Chr2:29416461 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2361C>T (p.Asn787=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002457707]|Neuroblastoma, susceptibility to, 3 [RCV003101759] |
Chr2:29233691 [GRCh38]
Chr2:29456557 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1106A>G (p.Asn369Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002426276] |
Chr2:29531963 [GRCh38]
Chr2:29754829 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3147C>A (p.Val1049=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002320767] |
Chr2:29225486 [GRCh38]
Chr2:29448352 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4015C>T (p.Leu1339=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002359445]|Neuroblastoma, susceptibility to, 3 [RCV003633621] |
Chr2:29197600 [GRCh38]
Chr2:29420466 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2339A>T (p.Glu780Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002448251] |
Chr2:29239696 [GRCh38]
Chr2:29462562 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4387G>A (p.Val1463Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002296731] |
Chr2:29193700 [GRCh38]
Chr2:29416566 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4832G>A (p.Ser1611Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002338091]|Neuroblastoma, susceptibility to, 3 [RCV003108028] |
Chr2:29193255 [GRCh38]
Chr2:29416121 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.451T>C (p.Leu151=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002328725] |
Chr2:29920209 [GRCh38]
Chr2:30143075 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.772C>G (p.His258Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002400721] |
Chr2:29717593 [GRCh38]
Chr2:29940459 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2384T>A (p.Ile795Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002457929] |
Chr2:29233668 [GRCh38]
Chr2:29456534 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3150G>A (p.Leu1050=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002320823] |
Chr2:29225483 [GRCh38]
Chr2:29448349 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.963C>T (p.Leu321=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002376484] |
Chr2:29532106 [GRCh38]
Chr2:29754972 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.401A>G (p.Lys134Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002359469] |
Chr2:29920259 [GRCh38]
Chr2:30143125 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3108C>T (p.Ile1036=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002326050] |
Chr2:29225525 [GRCh38]
Chr2:29448391 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3111C>G (p.Leu1037=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002326092]|Neuroblastoma, susceptibility to, 3 [RCV003517369] |
Chr2:29225522 [GRCh38]
Chr2:29448388 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1737G>T (p.Arg579Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002399274]|Neuroblastoma, susceptibility to, 3 [RCV003517421] |
Chr2:29296968 [GRCh38]
Chr2:29519834 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3450+3A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002457205]|Neuroblastoma, susceptibility to, 3 [RCV003633613] |
Chr2:29222514 [GRCh38]
Chr2:29445380 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3540T>G (p.Val1180=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002459493] |
Chr2:29220811 [GRCh38]
Chr2:29443677 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.143G>C (p.Arg48Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002394339]|Neuroblastoma, susceptibility to, 3 [RCV003108074] |
Chr2:29920517 [GRCh38]
Chr2:30143383 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3162C>T (p.Gly1054=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002322528]|Neuroblastoma, susceptibility to, 3 [RCV003517372] |
Chr2:29225471 [GRCh38]
Chr2:29448337 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4677C>T (p.Pro1559=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002335183] |
Chr2:29193410 [GRCh38]
Chr2:29416276 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.512G>T (p.Ser171Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002338170] |
Chr2:29920148 [GRCh38]
Chr2:30143014 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2436T>A (p.His812Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002459944] |
Chr2:29233616 [GRCh38]
Chr2:29456482 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.43T>A (p.Ser15Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002333742]|Neuroblastoma, susceptibility to, 3 [RCV003102580] |
Chr2:29920617 [GRCh38]
Chr2:30143483 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.402G>A (p.Lys134=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002359549]|Neuroblastoma, susceptibility to, 3 [RCV003094489] |
Chr2:29920258 [GRCh38]
Chr2:30143124 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4557T>G (p.Asn1519Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002340179] |
Chr2:29193530 [GRCh38]
Chr2:29416396 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.92C>G (p.Ser31Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002371521] |
Chr2:29920568 [GRCh38]
Chr2:30143434 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1041G>A (p.Leu347=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002392300] |
Chr2:29532028 [GRCh38]
Chr2:29754894 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.468G>T (p.Gly156=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002335248] |
Chr2:29920192 [GRCh38]
Chr2:30143058 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3090C>T (p.His1030=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002325801] |
Chr2:29225543 [GRCh38]
Chr2:29448409 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1378G>A (p.Asp460Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002381102]|Neuroblastoma, susceptibility to, 3 [RCV003095061] |
Chr2:29328386 [GRCh38]
Chr2:29551252 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.882C>T (p.Pro294=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002449808] |
Chr2:29694920 [GRCh38]
Chr2:29917786 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3359+3G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002321040]|Neuroblastoma, susceptibility to, 3 [RCV003633612] |
Chr2:29223339 [GRCh38]
Chr2:29446205 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3360-2A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002321075] |
Chr2:29222609 [GRCh38]
Chr2:29445475 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4191G>A (p.Leu1397=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002327786] |
Chr2:29193896 [GRCh38]
Chr2:29416762 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2052G>A (p.Leu684=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002421843] |
Chr2:29251257 [GRCh38]
Chr2:29474123 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1992G>A (p.Leu664=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002423865]|Neuroblastoma, susceptibility to, 3 [RCV003517426] |
Chr2:29275148 [GRCh38]
Chr2:29498014 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3486G>C (p.Leu1162=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002457398] |
Chr2:29222373 [GRCh38]
Chr2:29445239 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1742T>G (p.Val581Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002401428] |
Chr2:29296963 [GRCh38]
Chr2:29519829 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3099C>T (p.Leu1033=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002325882]|Neuroblastoma, susceptibility to, 3 [RCV003517368] |
Chr2:29225534 [GRCh38]
Chr2:29448400 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3935C>T (p.Thr1312Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002373241] |
Chr2:29207174 [GRCh38]
Chr2:29430040 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3941C>G (p.Ser1314Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002373292] |
Chr2:29197674 [GRCh38]
Chr2:29420540 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.970A>G (p.Asn324Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002376683]|Neuroblastoma, susceptibility to, 3 [RCV003633650] |
Chr2:29532099 [GRCh38]
Chr2:29754965 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2061A>C (p.Thr687=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002421977] |
Chr2:29251248 [GRCh38]
Chr2:29474114 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2460A>G (p.Gly820=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002455479] |
Chr2:29233592 [GRCh38]
Chr2:29456458 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2091C>T (p.Thr697=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002424050] |
Chr2:29251218 [GRCh38]
Chr2:29474084 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3141C>T (p.Ala1047=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002320726]|Neuroblastoma, susceptibility to, 3 [RCV003633609] |
Chr2:29225492 [GRCh38]
Chr2:29448358 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1384G>T (p.Ala462Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002396497]|Neuroblastoma, susceptibility to, 3 [RCV003095069] |
Chr2:29328380 [GRCh38]
Chr2:29551246 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.233C>T (p.Ser78Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002448269]|Neuroblastoma, susceptibility to, 3 [RCV003098814] |
Chr2:29920427 [GRCh38]
Chr2:30143293 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2340G>A (p.Glu780=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002448285] |
Chr2:29239695 [GRCh38]
Chr2:29462561 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3451-3C>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002457208] |
Chr2:29222411 [GRCh38]
Chr2:29445277 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3451-3C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002457209] |
Chr2:29222411 [GRCh38]
Chr2:29445277 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2951A>C (p.Tyr984Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002441872] |
Chr2:29227038 [GRCh38]
Chr2:29449904 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3624C>T (p.Leu1208=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460316] |
Chr2:29220727 [GRCh38]
Chr2:29443593 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2264A>G (p.His755Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002443786] |
Chr2:29239771 [GRCh38]
Chr2:29462637 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1768T>C (p.Leu590=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002401771] |
Chr2:29296937 [GRCh38]
Chr2:29519803 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3327G>A (p.Lys1109=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002326440]|Neuroblastoma, susceptibility to, 3 [RCV003099401] |
Chr2:29223374 [GRCh38]
Chr2:29446240 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3329A>C (p.Glu1110Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002326450] |
Chr2:29223372 [GRCh38]
Chr2:29446238 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1524T>G (p.Asp508Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002392511] |
Chr2:29320773 [GRCh38]
Chr2:29543639 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2637T>C (p.Gly879=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002428606] |
Chr2:29229062 [GRCh38]
Chr2:29451928 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4399A>G (p.Arg1467Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002333683]|Neuroblastoma, susceptibility to, 3 [RCV003094676] |
Chr2:29193688 [GRCh38]
Chr2:29416554 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1344C>A (p.Val448=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002387768] |
Chr2:29328420 [GRCh38]
Chr2:29551286 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4058_4073+6del |
deletion |
Hereditary cancer-predisposing syndrome [RCV002321345] |
Chr2:29197536..29197557 [GRCh38]
Chr2:29420402..29420423 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.424G>C (p.Val142Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002329851] |
Chr2:29920236 [GRCh38]
Chr2:30143102 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1372C>G (p.His458Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002383727]|Neuroblastoma, susceptibility to, 3 [RCV003633652] |
Chr2:29328392 [GRCh38]
Chr2:29551258 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1906C>T (p.Leu636Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002408349] |
Chr2:29275408 [GRCh38]
Chr2:29498274 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2782T>G (p.Cys928Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002441330] |
Chr2:29228917 [GRCh38]
Chr2:29451783 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2646C>A (p.Gly882=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002428656] |
Chr2:29229053 [GRCh38]
Chr2:29451919 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1137C>A (p.Pro379=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002326226] |
Chr2:29531932 [GRCh38]
Chr2:29754798 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1627A>G (p.Ile543Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002401178]|Neuroblastoma, susceptibility to, 3 [RCV003097028] |
Chr2:29318324 [GRCh38]
Chr2:29541190 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3071C>T (p.Ser1024Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002319776] |
Chr2:29225562 [GRCh38]
Chr2:29448428 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3075C>A (p.Pro1025=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002319815] |
Chr2:29225558 [GRCh38]
Chr2:29448424 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4064C>G (p.Pro1355Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002321413] |
Chr2:29197551 [GRCh38]
Chr2:29420417 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4087A>C (p.Thr1363Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002323161] |
Chr2:29196847 [GRCh38]
Chr2:29419713 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.914A>T (p.Asp305Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002378787] |
Chr2:29694888 [GRCh38]
Chr2:29917754 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3345C>T (p.Asn1115=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002326630]|Neuroblastoma, susceptibility to, 3 [RCV003633610] |
Chr2:29223356 [GRCh38]
Chr2:29446222 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3348C>T (p.Ile1116=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002326654]|Neuroblastoma, susceptibility to, 3 [RCV003633611] |
Chr2:29223353 [GRCh38]
Chr2:29446219 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3826G>C (p.Asp1276His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002355365] |
Chr2:29209796 [GRCh38]
Chr2:29432662 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3351C>T (p.Thr1117=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002320989] |
Chr2:29223350 [GRCh38]
Chr2:29446216 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.330G>C (p.Trp110Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002326301] |
Chr2:29920330 [GRCh38]
Chr2:30143196 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4193C>G (p.Pro1398Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002327798]|Neuroblastoma, susceptibility to, 3 [RCV003633623] |
Chr2:29193894 [GRCh38]
Chr2:29416760 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4856G>T (p.Gly1619Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002340307]|Neuroblastoma, susceptibility to, 3 [RCV003775977] |
Chr2:29193231 [GRCh38]
Chr2:29416097 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2536G>A (p.Gly846Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002455752] |
Chr2:29232400 [GRCh38]
Chr2:29455266 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2748G>T (p.Glu916Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002439320] |
Chr2:29228951 [GRCh38]
Chr2:29451817 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.602A>T (p.Glu201Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002358152] |
Chr2:29920058 [GRCh38]
Chr2:30142924 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.508C>T (p.Leu170Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002335921]|Neuroblastoma, susceptibility to, 3 [RCV003096606] |
Chr2:29920152 [GRCh38]
Chr2:30143018 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1569C>T (p.Thr523=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002405593] |
Chr2:29318382 [GRCh38]
Chr2:29541248 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.129A>G (p.Pro43=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002380736] |
Chr2:29920531 [GRCh38]
Chr2:30143397 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4437A>C (p.Ala1479=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002328240]|Neuroblastoma, susceptibility to, 3 [RCV003517387] |
Chr2:29193650 [GRCh38]
Chr2:29416516 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2747A>G (p.Glu916Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002439302]|Neuroblastoma, susceptibility to, 3 [RCV003102168] |
Chr2:29228952 [GRCh38]
Chr2:29451818 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3957A>G (p.Leu1319=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002357641]|Neuroblastoma, susceptibility to, 3 [RCV003094455] |
Chr2:29197658 [GRCh38]
Chr2:29420524 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.576G>A (p.Glu192=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002359647] |
Chr2:29920084 [GRCh38]
Chr2:30142950 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1767C>T (p.Gly589=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002401755] |
Chr2:29296938 [GRCh38]
Chr2:29519804 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3326A>T (p.Lys1109Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002326422] |
Chr2:29223375 [GRCh38]
Chr2:29446241 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4249G>T (p.Asp1417Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002329828] |
Chr2:29193838 [GRCh38]
Chr2:29416704 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.585G>C (p.Ala195=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002353399] |
Chr2:29920075 [GRCh38]
Chr2:30142941 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.879C>T (p.Ile293=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002373679] |
Chr2:29694923 [GRCh38]
Chr2:29917789 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3054C>G (p.Gly1018=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002444135] |
Chr2:29226935 [GRCh38]
Chr2:29449801 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4031G>C (p.Ser1344Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002375758] |
Chr2:29197584 [GRCh38]
Chr2:29420450 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.12C>A (p.Ile4=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002380777] |
Chr2:29920648 [GRCh38]
Chr2:30143514 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.522C>T (p.Phe174=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002340840] |
Chr2:29920138 [GRCh38]
Chr2:30143004 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.71G>A (p.Gly24Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002295171] |
Chr2:29920589 [GRCh38]
Chr2:30143455 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4044G>A (p.Met1348Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002321228] |
Chr2:29197571 [GRCh38]
Chr2:29420437 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2670C>T (p.Leu890=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002428803] |
Chr2:29229029 [GRCh38]
Chr2:29451895 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.911T>C (p.Leu304Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002378711] |
Chr2:29694891 [GRCh38]
Chr2:29917757 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4764A>C (p.Gln1588His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002337683] |
Chr2:29193323 [GRCh38]
Chr2:29416189 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2985T>C (p.Cys995=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002442253] |
Chr2:29227004 [GRCh38]
Chr2:29449870 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2169C>T (p.Ile723=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002432687] |
Chr2:29251140 [GRCh38]
Chr2:29474006 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.593T>C (p.Val198Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002355922]|Neuroblastoma, susceptibility to, 3 [RCV003517398] |
Chr2:29920067 [GRCh38]
Chr2:30142933 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4167C>T (p.Asp1389=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002333359] |
Chr2:29193920 [GRCh38]
Chr2:29416786 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.196G>T (p.Val66Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002423467] |
Chr2:29920464 [GRCh38]
Chr2:30143330 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2915T>C (p.Val972Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002439872] |
Chr2:29227074 [GRCh38]
Chr2:29449940 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2849T>C (p.Met950Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002295395] |
Chr2:29227639 [GRCh38]
Chr2:29450505 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2462G>T (p.Gly821Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002430742] |
Chr2:29233590 [GRCh38]
Chr2:29456456 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2148C>A (p.Ser716Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002430635] |
Chr2:29251161 [GRCh38]
Chr2:29474027 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1797T>C (p.Pro599=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002407815] |
Chr2:29296908 [GRCh38]
Chr2:29519774 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4580C>T (p.Pro1527Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002342210] |
Chr2:29193507 [GRCh38]
Chr2:29416373 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4583A>T (p.His1528Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002342222] |
Chr2:29193504 [GRCh38]
Chr2:29416370 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1690G>T (p.Val564Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002414637]|Neuroblastoma, susceptibility to, 3 [RCV003633657] |
Chr2:29297015 [GRCh38]
Chr2:29519881 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.629C>T (p.Ala210Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002353947] |
Chr2:29920031 [GRCh38]
Chr2:30142897 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4475T>C (p.Val1492Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002328502]|Neuroblastoma, susceptibility to, 3 [RCV003517389] |
Chr2:29193612 [GRCh38]
Chr2:29416478 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.498C>G (p.Leu166=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002342927]|Neuroblastoma, susceptibility to, 3 [RCV003096549] |
Chr2:29920162 [GRCh38]
Chr2:30143028 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3430C>T (p.Pro1144Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002457030] |
Chr2:29222537 [GRCh38]
Chr2:29445403 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4022_4023del (p.Phe1341fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002375735] |
Chr2:29197592..29197593 [GRCh38]
Chr2:29420458..29420459 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1408A>G (p.Met470Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002389425]|Neuroblastoma, susceptibility to, 3 [RCV003095108] |
Chr2:29328356 [GRCh38]
Chr2:29551222 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1629C>T (p.Ile543=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002401212] |
Chr2:29318322 [GRCh38]
Chr2:29541188 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4844T>G (p.Met1615Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002340248] |
Chr2:29193243 [GRCh38]
Chr2:29416109 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2940T>C (p.Asn980=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002440167] |
Chr2:29227049 [GRCh38]
Chr2:29449915 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1986G>A (p.Lys662=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002423748] |
Chr2:29275154 [GRCh38]
Chr2:29498020 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1987G>A (p.Glu663Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002423762] |
Chr2:29275153 [GRCh38]
Chr2:29498019 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4494G>A (p.Lys1498=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002328638]|Neuroblastoma, susceptibility to, 3 [RCV003517390] |
Chr2:29193593 [GRCh38]
Chr2:29416459 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.198C>G (p.Val66=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002423802]|Neuroblastoma, susceptibility to, 3 [RCV003633661] |
Chr2:29920462 [GRCh38]
Chr2:30143328 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4028C>G (p.Thr1343Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002375743] |
Chr2:29197587 [GRCh38]
Chr2:29420453 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.90C>T (p.Gly30=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002450014]|Neuroblastoma, susceptibility to, 3 [RCV003100097] |
Chr2:29920570 [GRCh38]
Chr2:30143436 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1931T>C (p.Ile644Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002301785] |
Chr2:29275209 [GRCh38]
Chr2:29498075 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.899A>G (p.Gln300Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002376302] |
Chr2:29694903 [GRCh38]
Chr2:29917769 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4160C>G (p.Thr1387Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002333321]|Neuroblastoma, susceptibility to, 3 [RCV003633622] |
Chr2:29196774 [GRCh38]
Chr2:29419640 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1782G>A (p.Gln594=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002404120] |
Chr2:29296923 [GRCh38]
Chr2:29519789 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4262T>C (p.Val1421Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003164517]|Neuroblastoma, susceptibility to, 3 [RCV002298421] |
Chr2:29193825 [GRCh38]
Chr2:29416691 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2222C>A (p.Ala741Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002428093] |
Chr2:29239813 [GRCh38]
Chr2:29462679 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.189C>G (p.Leu63=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002408193] |
Chr2:29920471 [GRCh38]
Chr2:30143337 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.18C>T (p.Leu6=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002408227]|Neuroblastoma, susceptibility to, 3 [RCV003097335] |
Chr2:29920642 [GRCh38]
Chr2:30143508 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.438C>A (p.Gly146=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002333614]|Neuroblastoma, susceptibility to, 3 [RCV003633627] |
Chr2:29920222 [GRCh38]
Chr2:30143088 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3811T>C (p.Phe1271Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002355254] |
Chr2:29209811 [GRCh38]
Chr2:29432677 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2323G>C (p.Val775Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002448138] |
Chr2:29239712 [GRCh38]
Chr2:29462578 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4377A>G (p.Ala1459=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002333541] |
Chr2:29193710 [GRCh38]
Chr2:29416576 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.209A>G (p.Asp70Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002424164] |
Chr2:29920451 [GRCh38]
Chr2:30143317 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2319C>T (p.Ile773=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002448091] |
Chr2:29239716 [GRCh38]
Chr2:29462582 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.348C>A (p.Ala116=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002457427]|Neuroblastoma, susceptibility to, 3 [RCV003633614] |
Chr2:29920312 [GRCh38]
Chr2:30143178 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.2089A>G (p.Thr697Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002423993] |
Chr2:29251220 [GRCh38]
Chr2:29474086 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.270G>T (p.Ser90=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002431188] |
Chr2:29920390 [GRCh38]
Chr2:30143256 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.2370C>A (p.Ile790=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002450175] |
Chr2:29233682 [GRCh38]
Chr2:29456548 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4256A>T (p.Glu1419Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002329897] |
Chr2:29193831 [GRCh38]
Chr2:29416697 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4324C>T (p.Pro1442Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002332059] |
Chr2:29193763 [GRCh38]
Chr2:29416629 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4617T>C (p.Cys1539=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002342488] |
Chr2:29193470 [GRCh38]
Chr2:29416336 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4400G>A (p.Arg1467Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002333754] |
Chr2:29193687 [GRCh38]
Chr2:29416553 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.527G>C (p.Trp176Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002344443]|Neuroblastoma, susceptibility to, 3 [RCV003633636] |
Chr2:29920133 [GRCh38]
Chr2:30142999 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1455C>T (p.Gly485=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002394693]|Neuroblastoma, susceptibility to, 3 [RCV003633654] |
Chr2:29320842 [GRCh38]
Chr2:29543708 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3608A>C (p.Asp1203Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002295580] |
Chr2:29220743 [GRCh38]
Chr2:29443609 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.688C>T (p.Pro230Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002362269] |
Chr2:29717677 [GRCh38]
Chr2:29940543 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.30G>A (p.Leu10=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002325960] |
Chr2:29920630 [GRCh38]
Chr2:30143496 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4206T>A (p.Gly1402=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002327901] |
Chr2:29193881 [GRCh38]
Chr2:29416747 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4272C>T (p.Leu1424=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002330042]|Neuroblastoma, susceptibility to, 3 [RCV003102553] |
Chr2:29193815 [GRCh38]
Chr2:29416681 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.4279T>C (p.Ser1427Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002330091]|Neuroblastoma, susceptibility to, 3 [RCV003094618] |
Chr2:29193808 [GRCh38]
Chr2:29416674 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4416A>G (p.Glu1472=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002333857] |
Chr2:29193671 [GRCh38]
Chr2:29416537 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3376G>C (p.Ala1126Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002296545] |
Chr2:29222591 [GRCh38]
Chr2:29445457 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.135C>T (p.Ser45=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002383453] |
Chr2:29920525 [GRCh38]
Chr2:30143391 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.592G>T (p.Val198Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002355869]|Neuroblastoma, susceptibility to, 3 [RCV003633637] |
Chr2:29920068 [GRCh38]
Chr2:30142934 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3631A>C (p.Thr1211Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002300039] |
Chr2:29220720 [GRCh38]
Chr2:29443586 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3228T>A (p.Pro1076=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002445526] |
Chr2:29223473 [GRCh38]
Chr2:29446339 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3856G>A (p.Gly1286Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002355511] |
Chr2:29207253 [GRCh38]
Chr2:29430119 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3861C>T (p.Gly1287=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002355551]|Neuroblastoma, susceptibility to, 3 [RCV003517381] |
Chr2:29207248 [GRCh38]
Chr2:29430114 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3926A>C (p.Lys1309Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002373198] |
Chr2:29207183 [GRCh38]
Chr2:29430049 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4638A>G (p.Ala1546=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002342585]|Neuroblastoma, susceptibility to, 3 [RCV003096392] |
Chr2:29193449 [GRCh38]
Chr2:29416315 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1879A>C (p.Asn627His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002415250] |
Chr2:29275435 [GRCh38]
Chr2:29498301 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1879A>G (p.Asn627Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002415254]|Neuroblastoma, susceptibility to, 3 [RCV003774537] |
Chr2:29275435 [GRCh38]
Chr2:29498301 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2960G>C (p.Cys987Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002441979] |
Chr2:29227029 [GRCh38]
Chr2:29449895 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1559T>G (p.Leu520Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002405371] |
Chr2:29318392 [GRCh38]
Chr2:29541258 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.183C>T (p.Pro61=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002412811]|Neuroblastoma, susceptibility to, 3 [RCV003517423] |
Chr2:29920477 [GRCh38]
Chr2:30143343 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.294G>T (p.Leu98=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002441859] |
Chr2:29920366 [GRCh38]
Chr2:30143232 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4229A>G (p.Lys1410Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002328085] |
Chr2:29193858 [GRCh38]
Chr2:29416724 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1219A>T (p.Ile407Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002301902] |
Chr2:29383795 [GRCh38]
Chr2:29606661 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.462C>T (p.Cys154=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002330391]|Neuroblastoma, susceptibility to, 3 [RCV003096386] |
Chr2:29920198 [GRCh38]
Chr2:30143064 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.492G>T (p.Gly164=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002342626]|Neuroblastoma, susceptibility to, 3 [RCV003096533] |
Chr2:29920168 [GRCh38]
Chr2:30143034 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4224A>C (p.Glu1408Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002301221] |
Chr2:29193863 [GRCh38]
Chr2:29416729 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1295G>T (p.Gly432Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002380634] |
Chr2:29328469 [GRCh38]
Chr2:29551335 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2158C>A (p.Leu720Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002432548]|Neuroblastoma, susceptibility to, 3 [RCV003101094] |
Chr2:29251151 [GRCh38]
Chr2:29474017 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4265C>T (p.Pro1422Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002329974] |
Chr2:29193822 [GRCh38]
Chr2:29416688 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.427C>A (p.Leu143Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002330098]|Neuroblastoma, susceptibility to, 3 [RCV003517385] |
Chr2:29920233 [GRCh38]
Chr2:30143099 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.141G>C (p.Ser47=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002391794] |
Chr2:29920519 [GRCh38]
Chr2:30143385 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.2156C>T (p.Pro719Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002432533]|Neuroblastoma, susceptibility to, 3 [RCV003098671] |
Chr2:29251153 [GRCh38]
Chr2:29474019 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4240A>C (p.Arg1414=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002328208] |
Chr2:29193847 [GRCh38]
Chr2:29416713 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4645A>G (p.Arg1549Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002330442]|Neuroblastoma, susceptibility to, 3 [RCV003096401] |
Chr2:29193442 [GRCh38]
Chr2:29416308 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4359A>G (p.Ala1453=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002332314] |
Chr2:29193728 [GRCh38]
Chr2:29416594 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.535C>A (p.Arg179Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002347014] |
Chr2:29920125 [GRCh38]
Chr2:30142991 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4122C>A (p.Pro1374=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002323519] |
Chr2:29196812 [GRCh38]
Chr2:29419678 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3897G>C (p.Glu1299Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002303226] |
Chr2:29207212 [GRCh38]
Chr2:29430078 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2274T>C (p.Ser758=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002445986] |
Chr2:29239761 [GRCh38]
Chr2:29462627 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.60C>T (p.Gly20=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002360145]|Neuroblastoma, susceptibility to, 3 [RCV003103265] |
Chr2:29920600 [GRCh38]
Chr2:30143466 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.215T>G (p.Leu72Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002432583] |
Chr2:29920445 [GRCh38]
Chr2:30143311 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4807C>T (p.His1603Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002337917]|Neuroblastoma, susceptibility to, 3 [RCV003102634] |
Chr2:29193280 [GRCh38]
Chr2:29416146 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3078C>T (p.Thr1026=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002319844] |
Chr2:29225555 [GRCh38]
Chr2:29448421 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.442G>A (p.Glu148Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002333964] |
Chr2:29920218 [GRCh38]
Chr2:30143084 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4092G>A (p.Gln1364=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002323250] |
Chr2:29196842 [GRCh38]
Chr2:29419708 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2703C>G (p.Thr901=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002429020]|Neuroblastoma, susceptibility to, 3 [RCV003633666] |
Chr2:29228996 [GRCh38]
Chr2:29451862 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.333C>G (p.Thr111=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002326563]|Neuroblastoma, susceptibility to, 3 [RCV003775593] |
Chr2:29920327 [GRCh38]
Chr2:30143193 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.705T>G (p.Ser235=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002365044] |
Chr2:29717660 [GRCh38]
Chr2:29940526 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.246T>G (p.Ala82=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002450603] |
Chr2:29920414 [GRCh38]
Chr2:30143280 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4674G>C (p.Glu1558Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002330520] |
Chr2:29193413 [GRCh38]
Chr2:29416279 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.186G>A (p.Ser62=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002415078]|Neuroblastoma, susceptibility to, 3 [RCV003517424] |
Chr2:29920474 [GRCh38]
Chr2:30143340 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.93C>G (p.Ser31=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002373903] |
Chr2:29920567 [GRCh38]
Chr2:30143433 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3534C>T (p.Asn1178=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002459432] |
Chr2:29220817 [GRCh38]
Chr2:29443683 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.674G>A (p.Ser225Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002377959] |
Chr2:29717691 [GRCh38]
Chr2:29940557 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.465C>T (p.Val155=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002335099]|Neuroblastoma, susceptibility to, 3 [RCV003096410] |
Chr2:29920195 [GRCh38]
Chr2:30143061 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1537G>C (p.Asp513His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002403068]|Neuroblastoma, susceptibility to, 3 [RCV003095301] |
Chr2:29320760 [GRCh38]
Chr2:29543626 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3844T>C (p.Tyr1282His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002364085] |
Chr2:29207265 [GRCh38]
Chr2:29430131 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3816G>T (p.Gly1272=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002364003] |
Chr2:29209806 [GRCh38]
Chr2:29432672 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4111G>A (p.Glu1371Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002323423]|Neuroblastoma, susceptibility to, 3 [RCV003517382] |
Chr2:29196823 [GRCh38]
Chr2:29419689 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4114G>C (p.Asp1372His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002323439] |
Chr2:29196820 [GRCh38]
Chr2:29419686 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.129A>T (p.Pro43=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002380738] |
Chr2:29920531 [GRCh38]
Chr2:30143397 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1338G>A (p.Gly446=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002387637] |
Chr2:29328426 [GRCh38]
Chr2:29551292 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3603G>C (p.Gly1201=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002455246]|Neuroblastoma, susceptibility to, 3 [RCV003099614] |
Chr2:29220748 [GRCh38]
Chr2:29443614 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1247C>A (p.Ala416Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002396184] |
Chr2:29383767 [GRCh38]
Chr2:29606633 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4677C>G (p.Pro1559=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002335179]|Neuroblastoma, susceptibility to, 3 [RCV003096415] |
Chr2:29193410 [GRCh38]
Chr2:29416276 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4684C>T (p.Leu1562=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002335218]|Neuroblastoma, susceptibility to, 3 [RCV003102614] |
Chr2:29193403 [GRCh38]
Chr2:29416269 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4655G>A (p.Gly1552Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002335082]|Neuroblastoma, susceptibility to, 3 [RCV003096407] |
Chr2:29193432 [GRCh38]
Chr2:29416298 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4774C>A (p.Pro1592Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002330666] |
Chr2:29193313 [GRCh38]
Chr2:29416179 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1935G>A (p.Leu645=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002410985] |
Chr2:29275205 [GRCh38]
Chr2:29498071 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1029G>A (p.Glu343=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002387851] |
Chr2:29532040 [GRCh38]
Chr2:29754906 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3197T>G (p.Leu1066Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002297915] |
Chr2:29223504 [GRCh38]
Chr2:29446370 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2622C>G (p.Ser874=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002426410]|Neuroblastoma, susceptibility to, 3 [RCV003102039] |
Chr2:29232314 [GRCh38]
Chr2:29455180 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.338G>A (p.Gly113Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002302020] |
Chr2:29920322 [GRCh38]
Chr2:30143188 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1804G>T (p.Asp602Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002410053] |
Chr2:29296901 [GRCh38]
Chr2:29519767 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2445A>G (p.Ala815=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002455387]|Neuroblastoma, susceptibility to, 3 [RCV003101827] |
Chr2:29233607 [GRCh38]
Chr2:29456473 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2061A>T (p.Thr687=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002421980] |
Chr2:29251248 [GRCh38]
Chr2:29474114 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1350G>A (p.Gln450=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002387941]|Neuroblastoma, susceptibility to, 3 [RCV003095015] |
Chr2:29328414 [GRCh38]
Chr2:29551280 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3144G>C (p.Leu1048=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002320751] |
Chr2:29225489 [GRCh38]
Chr2:29448355 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.695A>G (p.Asn232Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002378155]|Neuroblastoma, susceptibility to, 3 [RCV003517402] |
Chr2:29717670 [GRCh38]
Chr2:29940536 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.770C>G (p.Ser257Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002400628]|Neuroblastoma, susceptibility to, 3 [RCV003099723] |
Chr2:29717595 [GRCh38]
Chr2:29940461 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4798G>A (p.Gly1600Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002330721]|Neuroblastoma, susceptibility to, 3 [RCV003633634] |
Chr2:29193289 [GRCh38]
Chr2:29416155 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1947A>C (p.Ala649=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002413272] |
Chr2:29275193 [GRCh38]
Chr2:29498059 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.117G>T (p.Gln39His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002298120] |
Chr2:29920543 [GRCh38]
Chr2:30143409 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1098G>A (p.Leu366=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460016] |
Chr2:29531971 [GRCh38]
Chr2:29754837 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4575G>A (p.Lys1525=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002342156]|Neuroblastoma, susceptibility to, 3 [RCV003633630] |
Chr2:29193512 [GRCh38]
Chr2:29416378 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.715G>T (p.Asp239Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002378354]|Neuroblastoma, susceptibility to, 3 [RCV003633643] |
Chr2:29717650 [GRCh38]
Chr2:29940516 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1388A>G (p.Gln463Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002396583]|Neuroblastoma, susceptibility to, 3 [RCV003095073] |
Chr2:29328376 [GRCh38]
Chr2:29551242 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4743T>A (p.Asn1581Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002335528]|Neuroblastoma, susceptibility to, 3 [RCV003102623] |
Chr2:29193344 [GRCh38]
Chr2:29416210 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.260C>A (p.Ala87Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002426322] |
Chr2:29920400 [GRCh38]
Chr2:30143266 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1524T>C (p.Asp508=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002392508] |
Chr2:29320773 [GRCh38]
Chr2:29543639 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2616C>A (p.Gly872=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002426359] |
Chr2:29232320 [GRCh38]
Chr2:29455186 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3646-4A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002346633] |
Chr2:29214085 [GRCh38]
Chr2:29436951 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4596C>G (p.Asn1532Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002342298] |
Chr2:29193491 [GRCh38]
Chr2:29416357 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.584C>A (p.Ala195Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002353328] |
Chr2:29920076 [GRCh38]
Chr2:30142942 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.585G>T (p.Ala195=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002353402] |
Chr2:29920075 [GRCh38]
Chr2:30142941 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1113T>C (p.Ala371=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002439606] |
Chr2:29531956 [GRCh38]
Chr2:29754822 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3154T>C (p.Phe1052Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002320858] |
Chr2:29225479 [GRCh38]
Chr2:29448345 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2514G>A (p.Leu838=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002432967] |
Chr2:29232422 [GRCh38]
Chr2:29455288 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4161C>A (p.Thr1387=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002333324]|Neuroblastoma, susceptibility to, 3 [RCV003517384] |
Chr2:29196773 [GRCh38]
Chr2:29419639 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4161C>T (p.Thr1387=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002333326] |
Chr2:29196773 [GRCh38]
Chr2:29419639 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3654C>T (p.Pro1218=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002346651]|Neuroblastoma, susceptibility to, 3 [RCV003102417]|not provided [RCV003418455] |
Chr2:29214073 [GRCh38]
Chr2:29436939 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2775A>C (p.Gly925=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002439651] |
Chr2:29228924 [GRCh38]
Chr2:29451790 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1650C>T (p.Leu550=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002403655] |
Chr2:29297055 [GRCh38]
Chr2:29519921 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.272T>A (p.Leu91Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002296219] |
Chr2:29920388 [GRCh38]
Chr2:30143254 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3385G>A (p.Glu1129Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002302214] |
Chr2:29222582 [GRCh38]
Chr2:29445448 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2906C>T (p.Ala969Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002439765] |
Chr2:29227582 [GRCh38]
Chr2:29450448 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3359+4_3359+6delinsGGT |
indel |
Hereditary cancer-predisposing syndrome [RCV002321041] |
Chr2:29223336..29223338 [GRCh38]
Chr2:29446202..29446204 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2259G>A (p.Arg753=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002443672] |
Chr2:29239776 [GRCh38]
Chr2:29462642 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.501G>A (p.Gln167=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002335556]|Neuroblastoma, susceptibility to, 3 [RCV003102675] |
Chr2:29920159 [GRCh38]
Chr2:30143025 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.905A>G (p.Asp302Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002378516] |
Chr2:29694897 [GRCh38]
Chr2:29917763 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.893C>A (p.Ala298Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002449877] |
Chr2:29694909 [GRCh38]
Chr2:29917775 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2355+18G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002881009] |
Chr2:29239662 [GRCh38]
Chr2:29462528 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2410G>A (p.Glu804Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002993673] |
Chr2:29233642 [GRCh38]
Chr2:29456508 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.844G>T (p.Asp282Tyr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002816271] |
Chr2:29694958 [GRCh38]
Chr2:29917824 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2915-14C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002727343] |
Chr2:29227088 [GRCh38]
Chr2:29449954 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1414+14G>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002771416] |
Chr2:29328336 [GRCh38]
Chr2:29551202 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2355+3A>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002880597] |
Chr2:29239677 [GRCh38]
Chr2:29462543 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2036C>A (p.Pro679His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003012456] |
Chr2:29275104 [GRCh38]
Chr2:29497970 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1283G>A (p.Gly428Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002730386] |
Chr2:29328481 [GRCh38]
Chr2:29551347 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2339A>G (p.Glu780Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002995727] |
Chr2:29239696 [GRCh38]
Chr2:29462562 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4077C>T (p.Tyr1359=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002862080] |
Chr2:29196857 [GRCh38]
Chr2:29419723 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3744-7T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002730447] |
Chr2:29209885 [GRCh38]
Chr2:29432751 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2205-3C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002881181] |
Chr2:29239833 [GRCh38]
Chr2:29462699 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3437A>T (p.Gln1146Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002838001] |
Chr2:29222530 [GRCh38]
Chr2:29445396 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1357C>G (p.Gln453Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003013453] |
Chr2:29328407 [GRCh38]
Chr2:29551273 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.447G>C (p.Ala149=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002991682] |
Chr2:29920213 [GRCh38]
Chr2:30143079 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.961C>T (p.Leu321Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003032841] |
Chr2:29532108 [GRCh38]
Chr2:29754974 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.359C>T (p.Ala120Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002903835] |
Chr2:29920301 [GRCh38]
Chr2:30143167 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3067G>C (p.Val1023Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002863221] |
Chr2:29226922 [GRCh38]
Chr2:29449788 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3601G>T (p.Gly1201Trp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002775539] |
Chr2:29220750 [GRCh38]
Chr2:29443616 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4419G>T (p.Gly1473=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003294455]|Neuroblastoma, susceptibility to, 3 [RCV003074858] |
Chr2:29193668 [GRCh38]
Chr2:29416534 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4685T>C (p.Leu1562Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002993725] |
Chr2:29193402 [GRCh38]
Chr2:29416268 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3272A>G (p.Asp1091Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003076981] |
Chr2:29223429 [GRCh38]
Chr2:29446295 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.314C>T (p.Ala105Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003348958]|Neuroblastoma, susceptibility to, 3 [RCV002974814] |
Chr2:29920346 [GRCh38]
Chr2:30143212 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2265C>A (p.His755Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002882294] |
Chr2:29239770 [GRCh38]
Chr2:29462636 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1965G>A (p.Leu655=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002908807] |
Chr2:29275175 [GRCh38]
Chr2:29498041 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3445G>A (p.Val1149Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002734821] |
Chr2:29222522 [GRCh38]
Chr2:29445388 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3538G>A (p.Val1180Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002947440] |
Chr2:29220813 [GRCh38]
Chr2:29443679 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4073+15G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002996502] |
Chr2:29197527 [GRCh38]
Chr2:29420393 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2487+4T>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002972688] |
Chr2:29233561 [GRCh38]
Chr2:29456427 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1579C>G (p.Pro527Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003161729]|Neuroblastoma, susceptibility to, 3 [RCV003075575] |
Chr2:29318372 [GRCh38]
Chr2:29541238 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3743+12T>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002843079] |
Chr2:29213972 [GRCh38]
Chr2:29436838 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3739del (p.His1247fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV002863704] |
Chr2:29213988 [GRCh38]
Chr2:29436854 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4748A>T (p.Asn1583Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003077019] |
Chr2:29193339 [GRCh38]
Chr2:29416205 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1295G>A (p.Gly432Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002776160] |
Chr2:29328469 [GRCh38]
Chr2:29551335 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.667+1G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002838707] |
Chr2:29919992 [GRCh38]
Chr2:30142858 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3334C>G (p.Pro1112Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002991667] |
Chr2:29223367 [GRCh38]
Chr2:29446233 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2042-65_2074delinsTCTGA |
indel |
Neuroblastoma, susceptibility to, 3 [RCV002903810] |
Chr2:29251235..29251332 [GRCh38]
Chr2:29474101..29474198 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.383A>C (p.Lys128Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003034353] |
Chr2:29920277 [GRCh38]
Chr2:30143143 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1981A>G (p.Asn661Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002901534] |
Chr2:29275159 [GRCh38]
Chr2:29498025 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.209A>C (p.Asp70Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003017613] |
Chr2:29920451 [GRCh38]
Chr2:30143317 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2305G>A (p.Asp769Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002907803] |
Chr2:29239730 [GRCh38]
Chr2:29462596 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.780C>A (p.Ser260Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002947136] |
Chr2:29717585 [GRCh38]
Chr2:29940451 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2355+6T>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002971525] |
Chr2:29239674 [GRCh38]
Chr2:29462540 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.788-9T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003074472] |
Chr2:29695023 [GRCh38]
Chr2:29917889 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2649G>A (p.Trp883Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002726518] |
Chr2:29229050 [GRCh38]
Chr2:29451916 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3077C>A (p.Thr1026Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002838617] |
Chr2:29225556 [GRCh38]
Chr2:29448422 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.943A>T (p.Met315Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003033975] |
Chr2:29694859 [GRCh38]
Chr2:29917725 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2331G>A (p.Gln777=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002881420] |
Chr2:29239704 [GRCh38]
Chr2:29462570 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2815+13C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003073689] |
Chr2:29228871 [GRCh38]
Chr2:29451737 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2382C>T (p.Cys794=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002881471] |
Chr2:29233670 [GRCh38]
Chr2:29456536 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1273T>C (p.Cys425Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003015886] |
Chr2:29383741 [GRCh38]
Chr2:29606607 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2338G>A (p.Glu780Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002815401] |
Chr2:29239697 [GRCh38]
Chr2:29462563 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.788-18C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002971885] |
Chr2:29695032 [GRCh38]
Chr2:29917898 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2132G>A (p.Ser711Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002751396] |
Chr2:29251177 [GRCh38]
Chr2:29474043 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2205-20C>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002970985] |
Chr2:29239850 [GRCh38]
Chr2:29462716 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3938+19T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002881497] |
Chr2:29207152 [GRCh38]
Chr2:29430018 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.187C>T (p.Leu63Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002993807] |
Chr2:29920473 [GRCh38]
Chr2:30143339 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1415-17C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002755198] |
Chr2:29320899 [GRCh38]
Chr2:29543765 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1821C>T (p.Phe607=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002837868] |
Chr2:29275493 [GRCh38]
Chr2:29498359 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3744-12_3744-8dup |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV002614659] |
Chr2:29209885..29209886 [GRCh38]
Chr2:29432751..29432752 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3616T>G (p.Ser1206Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002971102] |
Chr2:29220735 [GRCh38]
Chr2:29443601 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1414+20C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002907607] |
Chr2:29328330 [GRCh38]
Chr2:29551196 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4713G>T (p.Leu1571=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003012540] |
Chr2:29193374 [GRCh38]
Chr2:29416240 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2977G>A (p.Asp993Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002991648] |
Chr2:29227012 [GRCh38]
Chr2:29449878 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3515+16G>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002881334] |
Chr2:29222328 [GRCh38]
Chr2:29445194 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4073+20A>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002970694] |
Chr2:29197522 [GRCh38]
Chr2:29420388 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2928C>A (p.His976Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003033285] |
Chr2:29227061 [GRCh38]
Chr2:29449927 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2632+11G>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002815180] |
Chr2:29232293 [GRCh38]
Chr2:29455159 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1282+3A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003074015] |
Chr2:29383729 [GRCh38]
Chr2:29606595 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.602_603del (p.Glu201fs) |
microsatellite |
Neuroblastoma, susceptibility to, 3 [RCV002863272] |
Chr2:29920057..29920058 [GRCh38]
Chr2:30142923..30142924 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1380C>A (p.Asp460Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002819102] |
Chr2:29328384 [GRCh38]
Chr2:29551250 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2633-8_2633-7delinsAT |
indel |
Neuroblastoma, susceptibility to, 3 [RCV002994925] |
Chr2:29229073..29229074 [GRCh38]
Chr2:29451939..29451940 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4535C>T (p.Thr1512Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002686351] |
Chr2:29193552 [GRCh38]
Chr2:29416418 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1030C>A (p.His344Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003073784] |
Chr2:29532039 [GRCh38]
Chr2:29754905 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4157G>C (p.Cys1386Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002996163] |
Chr2:29196777 [GRCh38]
Chr2:29419643 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3645+13C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002996701] |
Chr2:29220693 [GRCh38]
Chr2:29443559 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4365A>T (p.Lys1455Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002993548] |
Chr2:29193722 [GRCh38]
Chr2:29416588 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4140G>C (p.Leu1380Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002617863] |
Chr2:29196794 [GRCh38]
Chr2:29419660 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1283-1G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003034175] |
Chr2:29328482 [GRCh38]
Chr2:29551348 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3953T>C (p.Leu1318Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003033677] |
Chr2:29197662 [GRCh38]
Chr2:29420528 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1864A>T (p.Ile622Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002908346] |
Chr2:29275450 [GRCh38]
Chr2:29498316 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.612G>T (p.Leu204=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002880477] |
Chr2:29920048 [GRCh38]
Chr2:30142914 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1786A>G (p.Met596Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002971852] |
Chr2:29296919 [GRCh38]
Chr2:29519785 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2178G>A (p.Trp726Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003033781] |
Chr2:29251131 [GRCh38]
Chr2:29473997 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2204+14del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV002907639] |
Chr2:29251091 [GRCh38]
Chr2:29473957 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4553A>G (p.Lys1518Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003167522]|Neuroblastoma, susceptibility to, 3 [RCV002618528] |
Chr2:29193534 [GRCh38]
Chr2:29416400 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.31C>T (p.Pro11Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003367872]|Neuroblastoma, susceptibility to, 3 [RCV002731484] |
Chr2:29920629 [GRCh38]
Chr2:30143495 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1689C>A (p.Asn563Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002569777] |
Chr2:29297016 [GRCh38]
Chr2:29519882 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4001G>C (p.Ser1334Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003039506] |
Chr2:29197614 [GRCh38]
Chr2:29420480 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2615G>A (p.Gly872Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003021932] |
Chr2:29232321 [GRCh38]
Chr2:29455187 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1912+1del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV002871516] |
Chr2:29275401 [GRCh38]
Chr2:29498267 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1086T>C (p.Ile362=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002823745] |
Chr2:29531983 [GRCh38]
Chr2:29754849 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2381G>T (p.Cys794Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002885541] |
Chr2:29233671 [GRCh38]
Chr2:29456537 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2355+17G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002886084] |
Chr2:29239663 [GRCh38]
Chr2:29462529 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3605G>A (p.Gly1202Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002953131] |
Chr2:29220746 [GRCh38]
Chr2:29443612 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.481G>A (p.Ala161Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002914084] |
Chr2:29920179 [GRCh38]
Chr2:30143045 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4789A>G (p.Thr1597Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002926925] |
Chr2:29193298 [GRCh38]
Chr2:29416164 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.266G>T (p.Gly89Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002953083]|not specified [RCV003111607] |
Chr2:29920394 [GRCh38]
Chr2:30143260 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3670C>T (p.Leu1224=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002953125] |
Chr2:29214057 [GRCh38]
Chr2:29436923 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1817+14A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002761724] |
Chr2:29296874 [GRCh38]
Chr2:29519740 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1613C>A (p.Thr538Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002927937] |
Chr2:29318338 [GRCh38]
Chr2:29541204 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3451-6G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002800529] |
Chr2:29222414 [GRCh38]
Chr2:29445280 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.19del (p.Leu7fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV002914472] |
Chr2:29920641 [GRCh38]
Chr2:30143507 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4478A>G (p.His1493Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002591636] |
Chr2:29193609 [GRCh38]
Chr2:29416475 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3172+18C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003081700] |
Chr2:29225443 [GRCh38]
Chr2:29448309 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.18C>A (p.Leu6=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002914139] |
Chr2:29920642 [GRCh38]
Chr2:30143508 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1414+19C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003018489] |
Chr2:29328331 [GRCh38]
Chr2:29551197 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2565G>T (p.Thr855=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003081777] |
Chr2:29232371 [GRCh38]
Chr2:29455237 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2915-11C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002825149] |
Chr2:29227085 [GRCh38]
Chr2:29449951 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.866C>T (p.Ser289Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003081317] |
Chr2:29694936 [GRCh38]
Chr2:29917802 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4779_4789del (p.Leu1593fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV002953490] |
Chr2:29193298..29193308 [GRCh38]
Chr2:29416164..29416174 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1830G>C (p.Gln610His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002662889] |
Chr2:29275484 [GRCh38]
Chr2:29498350 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2204+15G>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002846229] |
Chr2:29251090 [GRCh38]
Chr2:29473956 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1069C>A (p.Pro357Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002696204] |
Chr2:29532000 [GRCh38]
Chr2:29754866 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1609G>A (p.Ala537Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002825315] |
Chr2:29318342 [GRCh38]
Chr2:29541208 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.953-15C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003035432] |
Chr2:29532131 [GRCh38]
Chr2:29754997 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3451-19C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003022007] |
Chr2:29222427 [GRCh38]
Chr2:29445293 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3721G>C (p.Glu1241Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002914126] |
Chr2:29214006 [GRCh38]
Chr2:29436872 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1482G>T (p.Leu494=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003019732] |
Chr2:29320815 [GRCh38]
Chr2:29543681 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.228C>T (p.Ser76=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002824739] |
Chr2:29920432 [GRCh38]
Chr2:30143298 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3328G>A (p.Glu1110Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003021813] |
Chr2:29223373 [GRCh38]
Chr2:29446239 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4074-7C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002796553] |
Chr2:29196867 [GRCh38]
Chr2:29419733 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2151G>A (p.Glu717=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002705577] |
Chr2:29251158 [GRCh38]
Chr2:29474024 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1165C>T (p.Leu389Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002690703] |
Chr2:29383849 [GRCh38]
Chr2:29606715 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.180G>T (p.Val60=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002867579] |
Chr2:29920480 [GRCh38]
Chr2:30143346 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3836+8A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003038199] |
Chr2:29209778 [GRCh38]
Chr2:29432644 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2915-9T>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002620155] |
Chr2:29227083 [GRCh38]
Chr2:29449949 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1174A>T (p.Arg392Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002820754] |
Chr2:29383840 [GRCh38]
Chr2:29606706 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3172+15C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002867079] |
Chr2:29225446 [GRCh38]
Chr2:29448312 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4493A>T (p.Lys1498Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003036490] |
Chr2:29193594 [GRCh38]
Chr2:29416460 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4331T>C (p.Leu1444Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002824019] |
Chr2:29193756 [GRCh38]
Chr2:29416622 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1443C>G (p.Asn481Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003078785] |
Chr2:29320854 [GRCh38]
Chr2:29543720 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.667+12C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003019525] |
Chr2:29919981 [GRCh38]
Chr2:30142847 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4165-17A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003079918] |
Chr2:29193939 [GRCh38]
Chr2:29416805 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.427dup (p.Leu143fs) |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV002820183] |
Chr2:29920232..29920233 [GRCh38]
Chr2:30143098..30143099 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3068-19A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003077159] |
Chr2:29225584 [GRCh38]
Chr2:29448450 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2688G>C (p.Leu896Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003018504] |
Chr2:29229011 [GRCh38]
Chr2:29451877 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1864A>G (p.Ile622Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003017857] |
Chr2:29275450 [GRCh38]
Chr2:29498316 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4441T>G (p.Ser1481Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002796590] |
Chr2:29193646 [GRCh38]
Chr2:29416512 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.788-19C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002846417] |
Chr2:29695033 [GRCh38]
Chr2:29917899 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1912+19del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV003035697] |
Chr2:29275383 [GRCh38]
Chr2:29498249 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.1242G>C (p.Leu414Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002923416] |
Chr2:29383772 [GRCh38]
Chr2:29606638 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.823G>C (p.Glu275Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003078620] |
Chr2:29694979 [GRCh38]
Chr2:29917845 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2641G>T (p.Gly881Cys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002796778] |
Chr2:29229058 [GRCh38]
Chr2:29451924 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3362G>T (p.Gly1121Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002637965] |
Chr2:29222605 [GRCh38]
Chr2:29445471 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.97G>T (p.Ala33Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003053263] |
Chr2:29920563 [GRCh38]
Chr2:30143429 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3173-7C>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002952465] |
Chr2:29223535 [GRCh38]
Chr2:29446401 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.758T>A (p.Phe253Tyr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003100252] |
Chr2:29717607 [GRCh38]
Chr2:29940473 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1135C>T (p.Pro379Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002690720] |
Chr2:29531934 [GRCh38]
Chr2:29754800 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3172+7G>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002867312] |
Chr2:29225454 [GRCh38]
Chr2:29448320 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3720G>A (p.Leu1240=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002867061] |
Chr2:29214007 [GRCh38]
Chr2:29436873 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3265A>G (p.Met1089Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003170857]|Neuroblastoma, susceptibility to, 3 [RCV003020831] |
Chr2:29223436 [GRCh38]
Chr2:29446302 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3515+14G>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002590750] |
Chr2:29222330 [GRCh38]
Chr2:29445196 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.788-18C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002760690] |
Chr2:29695032 [GRCh38]
Chr2:29917898 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3743+16T>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003054891] |
Chr2:29213968 [GRCh38]
Chr2:29436834 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.99T>C (p.Ala33=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002913902] |
Chr2:29920561 [GRCh38]
Chr2:30143427 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3515+13A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002796912] |
Chr2:29222331 [GRCh38]
Chr2:29445197 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.788-6T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003077161] |
Chr2:29695020 [GRCh38]
Chr2:29917886 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2816-1G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002820190] |
Chr2:29227673 [GRCh38]
Chr2:29450539 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1913-15T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002927081] |
Chr2:29275242 [GRCh38]
Chr2:29498108 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1546+9_1546+10del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV002695527] |
Chr2:29320741..29320742 [GRCh38]
Chr2:29543607..29543608 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2105A>G (p.Asn702Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002888126] |
Chr2:29251204 [GRCh38]
Chr2:29474070 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.637C>T (p.Pro213Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003036069] |
Chr2:29920023 [GRCh38]
Chr2:30142889 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.294G>C (p.Leu98=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003308248]|Neuroblastoma, susceptibility to, 3 [RCV002760144] |
Chr2:29920366 [GRCh38]
Chr2:30143232 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1415-9T>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002571099] |
Chr2:29320891 [GRCh38]
Chr2:29543757 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2149G>C (p.Glu717Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002705299] |
Chr2:29251160 [GRCh38]
Chr2:29474026 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4327C>T (p.Pro1443Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002695568] |
Chr2:29193760 [GRCh38]
Chr2:29416626 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3451-13dup |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV002785297] |
Chr2:29222420..29222421 [GRCh38]
Chr2:29445286..29445287 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.3646-20C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002979233] |
Chr2:29214101 [GRCh38]
Chr2:29436967 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.807C>T (p.Asp269=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002571123] |
Chr2:29694995 [GRCh38]
Chr2:29917861 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4332G>A (p.Leu1444=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002796125] |
Chr2:29193755 [GRCh38]
Chr2:29416621 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4301A>G (p.Glu1434Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003002790] |
Chr2:29193786 [GRCh38]
Chr2:29416652 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2711A>C (p.His904Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003021618] |
Chr2:29228988 [GRCh38]
Chr2:29451854 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2633-17C>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003001987] |
Chr2:29229083 [GRCh38]
Chr2:29451949 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.813del (p.Cys272fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV002952879] |
Chr2:29694989 [GRCh38]
Chr2:29917855 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4800A>G (p.Gly1600=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003078246] |
Chr2:29193287 [GRCh38]
Chr2:29416153 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3987A>G (p.Pro1329=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002913004] |
Chr2:29197628 [GRCh38]
Chr2:29420494 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1869G>A (p.Val623=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002620055] |
Chr2:29275445 [GRCh38]
Chr2:29498311 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3779C>T (p.Pro1260Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002590723] |
Chr2:29209843 [GRCh38]
Chr2:29432709 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1032C>G (p.His344Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002999709] |
Chr2:29532037 [GRCh38]
Chr2:29754903 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2903C>T (p.Pro968Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003038751] |
Chr2:29227585 [GRCh38]
Chr2:29450451 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2847A>G (p.Glu949=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003020456] |
Chr2:29227641 [GRCh38]
Chr2:29450507 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1828C>T (p.Gln610Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002846309] |
Chr2:29275486 [GRCh38]
Chr2:29498352 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.953-7T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002591938] |
Chr2:29532123 [GRCh38]
Chr2:29754989 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3837-17C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003077846] |
Chr2:29207289 [GRCh38]
Chr2:29430155 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3925A>G (p.Lys1309Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003274298]|Neuroblastoma, susceptibility to, 3 [RCV002637549] |
Chr2:29207184 [GRCh38]
Chr2:29430050 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3923C>T (p.Ser1308Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002659273] |
Chr2:29207186 [GRCh38]
Chr2:29430052 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.876C>T (p.Arg292=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003100480] |
Chr2:29694926 [GRCh38]
Chr2:29917792 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2204+13G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002979414] |
Chr2:29251092 [GRCh38]
Chr2:29473958 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3744-18C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003001889] |
Chr2:29209896 [GRCh38]
Chr2:29432762 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2627C>G (p.Ala876Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003384328]|Neuroblastoma, susceptibility to, 3 [RCV003078571] |
Chr2:29232309 [GRCh38]
Chr2:29455175 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2671T>C (p.Trp891Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003294582]|Neuroblastoma, susceptibility to, 3 [RCV002637890] |
Chr2:29229028 [GRCh38]
Chr2:29451894 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2076_2077insT (p.Pro693fs) |
insertion |
Neuroblastoma, susceptibility to, 3 [RCV003053744] |
Chr2:29251232..29251233 [GRCh38]
Chr2:29474098..29474099 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1251G>A (p.Val417=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003043544] |
Chr2:29383763 [GRCh38]
Chr2:29606629 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.788-1G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003008266] |
Chr2:29695015 [GRCh38]
Chr2:29917881 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2848A>G (p.Met950Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002791568] |
Chr2:29227640 [GRCh38]
Chr2:29450506 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.741G>A (p.Trp247Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002872317] |
Chr2:29717624 [GRCh38]
Chr2:29940490 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3608A>G (p.Asp1203Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002958438] |
Chr2:29220743 [GRCh38]
Chr2:29443609 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.315G>T (p.Ala105=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003042455] |
Chr2:29920345 [GRCh38]
Chr2:30143211 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4855G>A (p.Gly1619Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003170957]|Neuroblastoma, susceptibility to, 3 [RCV003040910] |
Chr2:29193232 [GRCh38]
Chr2:29416098 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1155-6A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003042460] |
Chr2:29383865 [GRCh38]
Chr2:29606731 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1817+10A>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002932265] |
Chr2:29296878 [GRCh38]
Chr2:29519744 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2202C>T (p.Tyr734=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003085857] |
Chr2:29251107 [GRCh38]
Chr2:29473973 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2744G>A (p.Trp915Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002876693] |
Chr2:29228955 [GRCh38]
Chr2:29451821 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2196C>T (p.Asp732=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002876697] |
Chr2:29251113 [GRCh38]
Chr2:29473979 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.481G>T (p.Ala161Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003025098] |
Chr2:29920179 [GRCh38]
Chr2:30143045 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2914+15A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002664124] |
Chr2:29227559 [GRCh38]
Chr2:29450425 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2324T>C (p.Val775Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002595257] |
Chr2:29239711 [GRCh38]
Chr2:29462577 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1155-5A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003042068] |
Chr2:29383864 [GRCh38]
Chr2:29606730 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4578G>C (p.Glu1526Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003056322] |
Chr2:29193509 [GRCh38]
Chr2:29416375 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1282+14G>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002895083] |
Chr2:29383718 [GRCh38]
Chr2:29606584 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.397C>A (p.Arg133Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003085536] |
Chr2:29920263 [GRCh38]
Chr2:30143129 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3324G>A (p.Leu1108=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003308220]|Neuroblastoma, susceptibility to, 3 [RCV002663749] |
Chr2:29223377 [GRCh38]
Chr2:29446243 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4620T>C (p.Thr1540=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002933140] |
Chr2:29193467 [GRCh38]
Chr2:29416333 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1381del (p.Cys461fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV002791291] |
Chr2:29328383 [GRCh38]
Chr2:29551249 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2914+17G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003008210] |
Chr2:29227557 [GRCh38]
Chr2:29450423 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.375G>A (p.Arg125=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003059570] |
Chr2:29920285 [GRCh38]
Chr2:30143151 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.2769G>T (p.Gly923=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002872246] |
Chr2:29228930 [GRCh38]
Chr2:29451796 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.438C>T (p.Gly146=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002741614] |
Chr2:29920222 [GRCh38]
Chr2:30143088 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.8C>T (p.Ala3Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002623420] |
Chr2:29920652 [GRCh38]
Chr2:30143518 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2258G>T (p.Arg753Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002983111] |
Chr2:29239777 [GRCh38]
Chr2:29462643 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3027C>T (p.Asp1009=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003007589] |
Chr2:29226962 [GRCh38]
Chr2:29449828 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2815+14G>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002928782] |
Chr2:29228870 [GRCh38]
Chr2:29451736 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3139G>C (p.Ala1047Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002850934] |
Chr2:29225494 [GRCh38]
Chr2:29448360 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3938+2T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002801237] |
Chr2:29207169 [GRCh38]
Chr2:29430035 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4705G>A (p.Val1569Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003082152] |
Chr2:29193382 [GRCh38]
Chr2:29416248 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3246G>A (p.Lys1082=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003023586] |
Chr2:29223455 [GRCh38]
Chr2:29446321 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1989G>A (p.Glu663=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002574823] |
Chr2:29275151 [GRCh38]
Chr2:29498017 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3173-16G>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002917833] |
Chr2:29223544 [GRCh38]
Chr2:29446410 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.608G>A (p.Arg203Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002765391] |
Chr2:29920052 [GRCh38]
Chr2:30142918 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2356-11dup |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV002624969] |
Chr2:29233706..29233707 [GRCh38]
Chr2:29456572..29456573 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.3119T>G (p.Val1040Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003056541] |
Chr2:29225514 [GRCh38]
Chr2:29448380 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4773G>T (p.Leu1591Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002642308] |
Chr2:29193314 [GRCh38]
Chr2:29416180 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2796A>C (p.Gly932=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002624653] |
Chr2:29228903 [GRCh38]
Chr2:29451769 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.156G>T (p.Lys52Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002891860] |
Chr2:29920504 [GRCh38]
Chr2:30143370 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2249C>A (p.Thr750Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002918042] |
Chr2:29239786 [GRCh38]
Chr2:29462652 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3891C>G (p.Pro1297=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003274061]|Neuroblastoma, susceptibility to, 3 [RCV002872781] |
Chr2:29207218 [GRCh38]
Chr2:29430084 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3354C>G (p.Leu1118=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003023621] |
Chr2:29223347 [GRCh38]
Chr2:29446213 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3854A>T (p.Lys1285Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003006411] |
Chr2:29207255 [GRCh38]
Chr2:29430121 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3359+16C>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003056822] |
Chr2:29223326 [GRCh38]
Chr2:29446192 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2089A>T (p.Thr697Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003024389] |
Chr2:29251220 [GRCh38]
Chr2:29474086 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1031A>G (p.His344Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003057502] |
Chr2:29532038 [GRCh38]
Chr2:29754904 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2697T>G (p.Gly899=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003082434] |
Chr2:29229002 [GRCh38]
Chr2:29451868 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1980A>G (p.Pro660=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003005693] |
Chr2:29275160 [GRCh38]
Chr2:29498026 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3172+10C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003084356] |
Chr2:29225451 [GRCh38]
Chr2:29448317 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3307T>G (p.Ser1103Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002572980] |
Chr2:29223394 [GRCh38]
Chr2:29446260 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4164+17C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002801805] |
Chr2:29196753 [GRCh38]
Chr2:29419619 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2989A>G (p.Met997Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002741866] |
Chr2:29227000 [GRCh38]
Chr2:29449866 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4860C>G (p.Pro1620=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003084192] |
Chr2:29193227 [GRCh38]
Chr2:29416093 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4672G>A (p.Glu1558Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002740855] |
Chr2:29193415 [GRCh38]
Chr2:29416281 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4666C>G (p.Leu1556Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002740857] |
Chr2:29193421 [GRCh38]
Chr2:29416287 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3916T>C (p.Phe1306Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002933158] |
Chr2:29207193 [GRCh38]
Chr2:29430059 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2044C>A (p.His682Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003367960]|Neuroblastoma, susceptibility to, 3 [RCV003057903] |
Chr2:29251265 [GRCh38]
Chr2:29474131 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3067+16C>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003085085] |
Chr2:29226906 [GRCh38]
Chr2:29449772 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.398_399delinsAA (p.Arg133Gln) |
indel |
Neuroblastoma, susceptibility to, 3 [RCV002851546] |
Chr2:29920261..29920262 [GRCh38]
Chr2:30143127..30143128 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3287_3292del (p.Tyr1096_Cys1097del) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV002596287] |
Chr2:29223409..29223414 [GRCh38]
Chr2:29446275..29446280 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1990C>A (p.Leu664Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003294511]|Neuroblastoma, susceptibility to, 3 [RCV003085120] |
Chr2:29275150 [GRCh38]
Chr2:29498016 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.787+17T>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003084251] |
Chr2:29717561 [GRCh38]
Chr2:29940427 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2815+17T>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002626838] |
Chr2:29228867 [GRCh38]
Chr2:29451733 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3938+17C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002932024] |
Chr2:29207154 [GRCh38]
Chr2:29430020 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1122G>A (p.Glu374=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002872567] |
Chr2:29531947 [GRCh38]
Chr2:29754813 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4490A>G (p.Asn1497Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003040866] |
Chr2:29193597 [GRCh38]
Chr2:29416463 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1530G>T (p.Arg510=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002876563] |
Chr2:29320767 [GRCh38]
Chr2:29543633 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.141G>T (p.Ser47=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002890153] |
Chr2:29920519 [GRCh38]
Chr2:30143385 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.2041+19A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003022383] |
Chr2:29275080 [GRCh38]
Chr2:29497946 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1077A>G (p.Gly359=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003384318]|Neuroblastoma, susceptibility to, 3 [RCV003083337] |
Chr2:29531992 [GRCh38]
Chr2:29754858 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4654G>A (p.Gly1552Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002853428] |
Chr2:29193433 [GRCh38]
Chr2:29416299 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.993C>T (p.His331=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003008005] |
Chr2:29532076 [GRCh38]
Chr2:29754942 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2675C>A (p.Ala892Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002700153] |
Chr2:29229024 [GRCh38]
Chr2:29451890 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4160C>T (p.Thr1387Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002982473] |
Chr2:29196774 [GRCh38]
Chr2:29419640 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2393A>G (p.Asn798Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002701542] |
Chr2:29233659 [GRCh38]
Chr2:29456525 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3067+9G>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002983107] |
Chr2:29226913 [GRCh38]
Chr2:29449779 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3646-11T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002852682] |
Chr2:29214092 [GRCh38]
Chr2:29436958 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1912+17C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003083553] |
Chr2:29275385 [GRCh38]
Chr2:29498251 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2204+7A>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002766856] |
Chr2:29251098 [GRCh38]
Chr2:29473964 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3068-8T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003025059] |
Chr2:29225573 [GRCh38]
Chr2:29448439 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1693T>A (p.Ser565Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003007604] |
Chr2:29297012 [GRCh38]
Chr2:29519878 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2487+15G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003005191] |
Chr2:29233550 [GRCh38]
Chr2:29456416 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2488-9C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002918075] |
Chr2:29232457 [GRCh38]
Chr2:29455323 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.668-18C>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003056629] |
Chr2:29717715 [GRCh38]
Chr2:29940581 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3602G>C (p.Gly1201Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003025086] |
Chr2:29220749 [GRCh38]
Chr2:29443615 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.574G>T (p.Glu192Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002829951] |
Chr2:29920086 [GRCh38]
Chr2:30142952 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.841C>T (p.His281Tyr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002914805] |
Chr2:29694961 [GRCh38]
Chr2:29917827 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.926C>A (p.Ala309Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003167790]|Neuroblastoma, susceptibility to, 3 [RCV002801358] |
Chr2:29694876 [GRCh38]
Chr2:29917742 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.3305C>A (p.Thr1102Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003040004] |
Chr2:29223396 [GRCh38]
Chr2:29446262 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4670T>C (p.Leu1557Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002740856] |
Chr2:29193417 [GRCh38]
Chr2:29416283 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.746T>C (p.Met249Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003348977]|Neuroblastoma, susceptibility to, 3 [RCV003022958] |
Chr2:29717619 [GRCh38]
Chr2:29940485 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2184G>T (p.Val728=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003041871] |
Chr2:29251125 [GRCh38]
Chr2:29473991 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1283G>T (p.Gly428Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002711880] |
Chr2:29328481 [GRCh38]
Chr2:29551347 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1902C>T (p.Cys634=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003348991]|Neuroblastoma, susceptibility to, 3 [RCV003056752] |
Chr2:29275412 [GRCh38]
Chr2:29498278 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.446C>A (p.Ala149Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003057732] |
Chr2:29920214 [GRCh38]
Chr2:30143080 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2355+20G>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002932035] |
Chr2:29239660 [GRCh38]
Chr2:29462526 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1415-19CT[2] |
microsatellite |
Neuroblastoma, susceptibility to, 3 [RCV002957942] |
Chr2:29320896..29320897 [GRCh38]
Chr2:29543762..29543763 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1043C>T (p.Ala348Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002593471] |
Chr2:29532026 [GRCh38]
Chr2:29754892 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3645+12C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002982456] |
Chr2:29220694 [GRCh38]
Chr2:29443560 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3310T>C (p.Ser1104Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003084807] |
Chr2:29223391 [GRCh38]
Chr2:29446257 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1547-9C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002666590] |
Chr2:29318413 [GRCh38]
Chr2:29541279 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3553del (p.Gly1184_Val1185insTer) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV002875687] |
Chr2:29220798 [GRCh38]
Chr2:29443664 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.441G>A (p.Glu147=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003022721] |
Chr2:29920219 [GRCh38]
Chr2:30143085 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3614A>G (p.Lys1205Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002851242] |
Chr2:29220737 [GRCh38]
Chr2:29443603 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1039C>A (p.Leu347Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002649701] |
Chr2:29532030 [GRCh38]
Chr2:29754896 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3645+15G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002938444] |
Chr2:29220691 [GRCh38]
Chr2:29443557 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.165A>G (p.Ala55=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002967177] |
Chr2:29920495 [GRCh38]
Chr2:30143361 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4070C>A (p.Pro1357His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002581978] |
Chr2:29197545 [GRCh38]
Chr2:29420411 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2602C>T (p.Leu868=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002746165] |
Chr2:29232334 [GRCh38]
Chr2:29455200 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3156C>T (p.Phe1052=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002857214] |
Chr2:29225477 [GRCh38]
Chr2:29448343 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1154+5G>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002810691] |
Chr2:29531910 [GRCh38]
Chr2:29754776 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4073+1G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003092078] |
Chr2:29197541 [GRCh38]
Chr2:29420407 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2356-17G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002629380] |
Chr2:29233713 [GRCh38]
Chr2:29456579 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2879G>T (p.Ser960Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003090127] |
Chr2:29227609 [GRCh38]
Chr2:29450475 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2741G>T (p.Gly914Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003031976] |
Chr2:29228958 [GRCh38]
Chr2:29451824 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1912+18C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002600114] |
Chr2:29275384 [GRCh38]
Chr2:29498250 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1519A>C (p.Lys507Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003064055] |
Chr2:29320778 [GRCh38]
Chr2:29543644 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1547-16T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003092100] |
Chr2:29318420 [GRCh38]
Chr2:29541286 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4309A>T (p.Ser1437Cys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002811966] |
Chr2:29193778 [GRCh38]
Chr2:29416644 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3515+14G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002676596] |
Chr2:29222330 [GRCh38]
Chr2:29445196 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1749T>C (p.His583=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003065811] |
Chr2:29296956 [GRCh38]
Chr2:29519822 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NC_000002.12:g.29695015del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV002598865] |
Chr2:29695014 [GRCh38]
Chr2:29917880 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1817+5G>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002811977] |
Chr2:29296883 [GRCh38]
Chr2:29519749 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2442G>A (p.Trp814Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002649719] |
Chr2:29233610 [GRCh38]
Chr2:29456476 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.952+4A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002581411] |
Chr2:29694846 [GRCh38]
Chr2:29917712 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3837-19T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002770354] |
Chr2:29207291 [GRCh38]
Chr2:29430157 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3515+12G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002966850] |
Chr2:29222332 [GRCh38]
Chr2:29445198 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3764G>A (p.Cys1255Tyr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003047964] |
Chr2:29209858 [GRCh38]
Chr2:29432724 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1547-17C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003048937] |
Chr2:29318421 [GRCh38]
Chr2:29541287 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.806A>T (p.Asp269Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003170951]|Neuroblastoma, susceptibility to, 3 [RCV003047901] |
Chr2:29694996 [GRCh38]
Chr2:29917862 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.111G>C (p.Pro37=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003027938] |
Chr2:29920549 [GRCh38]
Chr2:30143415 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3377C>A (p.Ala1126Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002834259] |
Chr2:29222590 [GRCh38]
Chr2:29445456 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1625C>G (p.Pro542Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003061227] |
Chr2:29318326 [GRCh38]
Chr2:29541192 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.337G>C (p.Gly113Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002770411] |
Chr2:29920323 [GRCh38]
Chr2:30143189 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1083C>A (p.Tyr361Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003009582] |
Chr2:29531986 [GRCh38]
Chr2:29754852 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.719A>T (p.Tyr240Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003043837] |
Chr2:29717646 [GRCh38]
Chr2:29940512 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2815G>A (p.Gly939Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002877214] |
Chr2:29228884 [GRCh38]
Chr2:29451750 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3007A>C (p.Lys1003Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002770424] |
Chr2:29226982 [GRCh38]
Chr2:29449848 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1928A>C (p.Lys643Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003061425] |
Chr2:29275212 [GRCh38]
Chr2:29498078 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2272T>A (p.Ser758Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002937860] |
Chr2:29239763 [GRCh38]
Chr2:29462629 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4279T>G (p.Ser1427Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003046450] |
Chr2:29193808 [GRCh38]
Chr2:29416674 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1546+7C>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002806859] |
Chr2:29320744 [GRCh38]
Chr2:29543610 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.556A>G (p.Arg186Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003086408] |
Chr2:29920104 [GRCh38]
Chr2:30142970 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.567G>T (p.Leu189=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002646039] |
Chr2:29920093 [GRCh38]
Chr2:30142959 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.269C>T (p.Ser90Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003063272] |
Chr2:29920391 [GRCh38]
Chr2:30143257 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2674G>A (p.Ala892Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002577404] |
Chr2:29229025 [GRCh38]
Chr2:29451891 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3210G>C (p.Gln1070His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002629054] |
Chr2:29223491 [GRCh38]
Chr2:29446357 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2415C>G (p.Ile805Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003011445] |
Chr2:29233637 [GRCh38]
Chr2:29456503 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3743+19G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002646076] |
Chr2:29213965 [GRCh38]
Chr2:29436831 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2993A>T (p.Asp998Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003167463]|Neuroblastoma, susceptibility to, 3 [RCV002597650] |
Chr2:29226996 [GRCh38]
Chr2:29449862 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1552G>T (p.Ala518Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002628125] |
Chr2:29318399 [GRCh38]
Chr2:29541265 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4730T>C (p.Phe1577Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003045197] |
Chr2:29193357 [GRCh38]
Chr2:29416223 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1818-4A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002833674] |
Chr2:29275500 [GRCh38]
Chr2:29498366 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4260G>A (p.Gly1420=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002898792] |
Chr2:29193827 [GRCh38]
Chr2:29416693 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3172+17C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003026778] |
Chr2:29225444 [GRCh38]
Chr2:29448310 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3675C>T (p.Asp1225=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003045220] |
Chr2:29214052 [GRCh38]
Chr2:29436918 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1562T>C (p.Leu521Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003026819] |
Chr2:29318389 [GRCh38]
Chr2:29541255 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3322C>A (p.Leu1108Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003009591] |
Chr2:29223379 [GRCh38]
Chr2:29446245 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2632+14A>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002629766] |
Chr2:29232290 [GRCh38]
Chr2:29455156 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4164+9T>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002791958] |
Chr2:29196761 [GRCh38]
Chr2:29419627 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.910C>T (p.Leu304=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002791971] |
Chr2:29694892 [GRCh38]
Chr2:29917758 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3093G>A (p.Leu1031=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002856956] |
Chr2:29225540 [GRCh38]
Chr2:29448406 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.260C>T (p.Ala87Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002629041] |
Chr2:29920400 [GRCh38]
Chr2:30143266 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3648C>T (p.Ser1216=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003029540] |
Chr2:29214079 [GRCh38]
Chr2:29436945 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4358C>G (p.Ala1453Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003045099] |
Chr2:29193729 [GRCh38]
Chr2:29416595 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4180A>C (p.Asn1394His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003063495] |
Chr2:29193907 [GRCh38]
Chr2:29416773 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.817G>T (p.Glu273Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002938179] |
Chr2:29694985 [GRCh38]
Chr2:29917851 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2487+8G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003030399] |
Chr2:29233557 [GRCh38]
Chr2:29456423 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.105_124del (p.Pro36fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV002877278] |
Chr2:29920536..29920555 [GRCh38]
Chr2:30143402..30143421 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2893C>A (p.Leu965Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003089638] |
Chr2:29227595 [GRCh38]
Chr2:29450461 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1463G>A (p.Gly488Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002598518] |
Chr2:29320834 [GRCh38]
Chr2:29543700 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4812C>G (p.Tyr1604Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003027475] |
Chr2:29193275 [GRCh38]
Chr2:29416141 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2915-12_2915-9del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV002671476] |
Chr2:29227083..29227086 [GRCh38]
Chr2:29449949..29449952 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1282+1G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003030808] |
Chr2:29383731 [GRCh38]
Chr2:29606597 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3037G>T (p.Val1013Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002770589] |
Chr2:29226952 [GRCh38]
Chr2:29449818 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2488-7T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002922581] |
Chr2:29232455 [GRCh38]
Chr2:29455321 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3678T>C (p.Leu1226=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002791879] |
Chr2:29214049 [GRCh38]
Chr2:29436915 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4197A>G (p.Ile1399Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002962491] |
Chr2:29193890 [GRCh38]
Chr2:29416756 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4797T>G (p.Pro1599=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002810260] |
Chr2:29193290 [GRCh38]
Chr2:29416156 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3516-2A>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003030662] |
Chr2:29220837 [GRCh38]
Chr2:29443703 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3939-15C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003026493] |
Chr2:29197691 [GRCh38]
Chr2:29420557 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3195G>A (p.Glu1065=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003088874] |
Chr2:29223506 [GRCh38]
Chr2:29446372 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2582T>G (p.Leu861Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003091850] |
Chr2:29232354 [GRCh38]
Chr2:29455220 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2914+11T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003087812] |
Chr2:29227563 [GRCh38]
Chr2:29450429 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.116A>C (p.Gln39Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003028333] |
Chr2:29920544 [GRCh38]
Chr2:30143410 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2317A>C (p.Ile773Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003274290]|Neuroblastoma, susceptibility to, 3 [RCV002647214] |
Chr2:29239718 [GRCh38]
Chr2:29462584 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.40C>T (p.Leu14Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002716709] |
Chr2:29920620 [GRCh38]
Chr2:30143486 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2915-20C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002651687] |
Chr2:29227094 [GRCh38]
Chr2:29449960 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4558A>C (p.Asn1520His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003026695] |
Chr2:29193529 [GRCh38]
Chr2:29416395 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2633-14A>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003027712] |
Chr2:29229080 [GRCh38]
Chr2:29451946 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1910C>G (p.Thr637Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002651010] |
Chr2:29275404 [GRCh38]
Chr2:29498270 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.206G>T (p.Arg69Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002856217] |
Chr2:29920454 [GRCh38]
Chr2:30143320 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2355+19G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002746354] |
Chr2:29239661 [GRCh38]
Chr2:29462527 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1545A>C (p.Gln515His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003028049] |
Chr2:29320752 [GRCh38]
Chr2:29543618 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4164+4A>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002937924] |
Chr2:29196766 [GRCh38]
Chr2:29419632 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2632+2T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002811070] |
Chr2:29232302 [GRCh38]
Chr2:29455168 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3516-6C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002650590] |
Chr2:29220841 [GRCh38]
Chr2:29443707 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2633-12C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003065485] |
Chr2:29229078 [GRCh38]
Chr2:29451944 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2041+6G>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003091594] |
Chr2:29275093 [GRCh38]
Chr2:29497959 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2124C>T (p.Ser708=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002720894] |
Chr2:29251185 [GRCh38]
Chr2:29474051 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3173-7C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002934001] |
Chr2:29223535 [GRCh38]
Chr2:29446401 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4538A>G (p.Glu1513Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002646778] |
Chr2:29193549 [GRCh38]
Chr2:29416415 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.590A>G (p.Glu197Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002938439] |
Chr2:29920070 [GRCh38]
Chr2:30142936 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1415-8C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003051053] |
Chr2:29320890 [GRCh38]
Chr2:29543756 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4760A>C (p.Gln1587Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002944203] |
Chr2:29193327 [GRCh38]
Chr2:29416193 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.953G>C (p.Gly318Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003068622] |
Chr2:29532116 [GRCh38]
Chr2:29754982 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.825G>A (p.Glu275=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002634489] |
Chr2:29694977 [GRCh38]
Chr2:29917843 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.578A>T (p.Lys193Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003049642] |
Chr2:29920082 [GRCh38]
Chr2:30142948 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4756T>C (p.Tyr1586His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002814883] |
Chr2:29193331 [GRCh38]
Chr2:29416197 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.668-14A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003066296] |
Chr2:29717711 [GRCh38]
Chr2:29940577 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1640C>T (p.Pro547Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003093156] |
Chr2:29318311 [GRCh38]
Chr2:29541177 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3360-11_3360-9del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV002585023] |
Chr2:29222616..29222618 [GRCh38]
Chr2:29445482..29445484 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.667+14G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003093001] |
Chr2:29919979 [GRCh38]
Chr2:30142845 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.2741G>A (p.Gly914Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003294510]|Neuroblastoma, susceptibility to, 3 [RCV003093225] |
Chr2:29228958 [GRCh38]
Chr2:29451824 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4143G>A (p.Glu1381=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003092629] |
Chr2:29196791 [GRCh38]
Chr2:29419657 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2506G>C (p.Val836Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003069360] |
Chr2:29232430 [GRCh38]
Chr2:29455296 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2262_2273del (p.His755_Ser758del) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV003069528] |
Chr2:29239762..29239773 [GRCh38]
Chr2:29462628..29462639 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2982dup (p.Cys995fs) |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV002655025] |
Chr2:29227006..29227007 [GRCh38]
Chr2:29449872..29449873 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1789G>T (p.Val597Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002635634] |
Chr2:29296916 [GRCh38]
Chr2:29519782 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3000A>G (p.Glu1000=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002605952] |
Chr2:29226989 [GRCh38]
Chr2:29449855 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4164+15C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003066222] |
Chr2:29196755 [GRCh38]
Chr2:29419621 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2110G>T (p.Ala704Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003071331] |
Chr2:29251199 [GRCh38]
Chr2:29474065 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2977G>C (p.Asp993His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003093759] |
Chr2:29227012 [GRCh38]
Chr2:29449878 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3571C>A (p.Pro1191Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003070258] |
Chr2:29220780 [GRCh38]
Chr2:29443646 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3645+12C>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003071578] |
Chr2:29220694 [GRCh38]
Chr2:29443560 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1726G>C (p.Glu576Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002608426] |
Chr2:29296979 [GRCh38]
Chr2:29519845 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4720C>A (p.Leu1574Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002633517] |
Chr2:29193367 [GRCh38]
Chr2:29416233 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1221C>T (p.Ile407=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003294578]|Neuroblastoma, susceptibility to, 3 [RCV002633592] |
Chr2:29383793 [GRCh38]
Chr2:29606659 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2633-14A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002634802] |
Chr2:29229080 [GRCh38]
Chr2:29451946 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4483T>C (p.Ser1495Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002610027] |
Chr2:29193604 [GRCh38]
Chr2:29416470 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3450+14C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003052580] |
Chr2:29222503 [GRCh38]
Chr2:29445369 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1817+14A>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002586996] |
Chr2:29296874 [GRCh38]
Chr2:29519740 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.920C>T (p.Pro307Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003071919] |
Chr2:29694882 [GRCh38]
Chr2:29917748 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2262C>T (p.Ser754=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002653204] |
Chr2:29239773 [GRCh38]
Chr2:29462639 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.62C>T (p.Ser21Phe) |
single nucleotide variant |
ALK-related condition [RCV003418737]|Hereditary cancer-predisposing syndrome [RCV003294446]|Neuroblastoma, susceptibility to, 3 [RCV003068745] |
Chr2:29920598 [GRCh38]
Chr2:30143464 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.550C>T (p.Arg184Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002605313] |
Chr2:29920110 [GRCh38]
Chr2:30142976 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1154+15A>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003070873] |
Chr2:29531900 [GRCh38]
Chr2:29754766 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3445_3450+13dup |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV003068863] |
Chr2:29222503..29222504 [GRCh38]
Chr2:29445369..29445370 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.891G>A (p.Glu297=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002634461] |
Chr2:29694911 [GRCh38]
Chr2:29917777 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2300A>G (p.Lys767Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003073349] |
Chr2:29239735 [GRCh38]
Chr2:29462601 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1415-12_1415-11insA |
insertion |
Neuroblastoma, susceptibility to, 3 [RCV002590156] |
Chr2:29320893..29320894 [GRCh38]
Chr2:29543759..29543760 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1415-14_1415-13del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV002590157] |
Chr2:29320895..29320896 [GRCh38]
Chr2:29543761..29543762 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2229C>A (p.Gly743=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002606189] |
Chr2:29239806 [GRCh38]
Chr2:29462672 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4059C>G (p.Asn1353Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002942188] |
Chr2:29197556 [GRCh38]
Chr2:29420422 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3646-17C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003073515] |
Chr2:29214098 [GRCh38]
Chr2:29436964 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3067+17A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003071312] |
Chr2:29226905 [GRCh38]
Chr2:29449771 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2312T>C (p.Leu771Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003308179]|Neuroblastoma, susceptibility to, 3 [RCV002613283] |
Chr2:29239723 [GRCh38]
Chr2:29462589 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2143G>A (p.Gly715Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002680696] |
Chr2:29251166 [GRCh38]
Chr2:29474032 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3938+6T>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002654343] |
Chr2:29207165 [GRCh38]
Chr2:29430031 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.270G>C (p.Ser90=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002635215] |
Chr2:29920390 [GRCh38]
Chr2:30143256 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3610C>T (p.Leu1204Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002584043] |
Chr2:29220741 [GRCh38]
Chr2:29443607 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4376C>T (p.Ala1459Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003294477]|Neuroblastoma, susceptibility to, 3 [RCV003069942] |
Chr2:29193711 [GRCh38]
Chr2:29416577 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1283-15C>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003072267] |
Chr2:29328496 [GRCh38]
Chr2:29551362 [GRCh37]
Chr2:2p23.2 |
likely benign|uncertain significance |
| NM_004304.5(ALK):c.1818-6G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002611762] |
Chr2:29275502 [GRCh38]
Chr2:29498368 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2041+17C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003051725] |
Chr2:29275082 [GRCh38]
Chr2:29497948 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2784CTC[1] (p.Ser930del) |
microsatellite |
Neuroblastoma, susceptibility to, 3 [RCV003052012] |
Chr2:29228910..29228912 [GRCh38]
Chr2:29451776..29451778 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1868T>C (p.Val623Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002606674] |
Chr2:29275446 [GRCh38]
Chr2:29498312 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1546G>A (p.Asp516Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002634368] |
Chr2:29320751 [GRCh38]
Chr2:29543617 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3150G>C (p.Leu1050=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002721335] |
Chr2:29225483 [GRCh38]
Chr2:29448349 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1579C>A (p.Pro527Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002602984] |
Chr2:29318372 [GRCh38]
Chr2:29541238 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1281A>C (p.Glu427Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003294479]|Neuroblastoma, susceptibility to, 3 [RCV003073003] |
Chr2:29383733 [GRCh38]
Chr2:29606599 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4517C>T (p.Thr1506Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002612328] |
Chr2:29193570 [GRCh38]
Chr2:29416436 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.814T>C (p.Cys272Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002603018] |
Chr2:29694988 [GRCh38]
Chr2:29917854 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3089_3090delinsTT (p.His1030Leu) |
indel |
Neuroblastoma, susceptibility to, 3 [RCV002612553] |
Chr2:29225543..29225544 [GRCh38]
Chr2:29448409..29448410 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4073+8T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV002588212] |
Chr2:29197534 [GRCh38]
Chr2:29420400 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4447T>C (p.Ser1483Pro) |
single nucleotide variant |
Ovarian cancer [RCV003154727] |
Chr2:29193640 [GRCh38]
Chr2:29416506 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.4493A>G (p.Lys1498Arg) |
single nucleotide variant |
Ovarian cancer [RCV003154772] |
Chr2:29193594 [GRCh38]
Chr2:29416460 [GRCh37]
Chr2:2p23.2 |
likely pathogenic |
| NM_004304.5(ALK):c.707C>G (p.Pro236Arg) |
single nucleotide variant |
Ovarian cancer [RCV003154665] |
Chr2:29717658 [GRCh38]
Chr2:29940524 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.2883A>G (p.Pro961=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172183] |
Chr2:29227605 [GRCh38]
Chr2:29450471 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4217A>G (p.Glu1406Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172189]|Neuroblastoma, susceptibility to, 3 [RCV003633687] |
Chr2:29193870 [GRCh38]
Chr2:29416736 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4650T>G (p.Leu1550=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172192] |
Chr2:29193437 [GRCh38]
Chr2:29416303 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.671A>G (p.His224Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172193] |
Chr2:29717694 [GRCh38]
Chr2:29940560 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4540A>C (p.Lys1514Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172194] |
Chr2:29193547 [GRCh38]
Chr2:29416413 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.331A>G (p.Thr111Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172195] |
Chr2:29920329 [GRCh38]
Chr2:30143195 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3936A>T (p.Thr1312=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172206] |
Chr2:29207173 [GRCh38]
Chr2:29430039 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1516C>T (p.Leu506=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172207] |
Chr2:29320781 [GRCh38]
Chr2:29543647 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1809G>A (p.Val603=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172208] |
Chr2:29296896 [GRCh38]
Chr2:29519762 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1818G>A (p.Arg606=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172209] |
Chr2:29275496 [GRCh38]
Chr2:29498362 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3333G>C (p.Val1111=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172210] |
Chr2:29223368 [GRCh38]
Chr2:29446234 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1795C>G (p.Pro599Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172211] |
Chr2:29296910 [GRCh38]
Chr2:29519776 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1441A>T (p.Asn481Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172212] |
Chr2:29320856 [GRCh38]
Chr2:29543722 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2542G>T (p.Ala848Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172213] |
Chr2:29232394 [GRCh38]
Chr2:29455260 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1624C>T (p.Pro542Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172214] |
Chr2:29318327 [GRCh38]
Chr2:29541193 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2324T>A (p.Val775Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172215]|Neuroblastoma, susceptibility to, 3 [RCV003633689] |
Chr2:29239711 [GRCh38]
Chr2:29462577 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3402G>A (p.Gln1134=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172216] |
Chr2:29222565 [GRCh38]
Chr2:29445431 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1308C>T (p.Ala436=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172217] |
Chr2:29328456 [GRCh38]
Chr2:29551322 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3447G>A (p.Val1149=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172218] |
Chr2:29222520 [GRCh38]
Chr2:29445386 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4296G>C (p.Arg1432=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172219] |
Chr2:29193791 [GRCh38]
Chr2:29416657 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.193C>G (p.Arg65Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172220] |
Chr2:29920467 [GRCh38]
Chr2:30143333 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.873C>T (p.Arg291=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172221] |
Chr2:29694929 [GRCh38]
Chr2:29917795 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3198G>A (p.Leu1066=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003198802] |
Chr2:29223503 [GRCh38]
Chr2:29446369 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.20T>G (p.Leu7Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003165040] |
Chr2:29920640 [GRCh38]
Chr2:30143506 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3862T>G (p.Cys1288Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003165039]|Neuroblastoma, susceptibility to, 3 [RCV003633684] |
Chr2:29207247 [GRCh38]
Chr2:29430113 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1679T>G (p.Leu560Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003165041]|Neuroblastoma, susceptibility to, 3 [RCV003633685] |
Chr2:29297026 [GRCh38]
Chr2:29519892 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4300G>A (p.Glu1434Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003165042] |
Chr2:29193787 [GRCh38]
Chr2:29416653 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2699C>G (p.Ala900Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003165046] |
Chr2:29229000 [GRCh38]
Chr2:29451866 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.486T>A (p.Ala162=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003203814] |
Chr2:29920174 [GRCh38]
Chr2:30143040 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4192C>A (p.Pro1398Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003191365] |
Chr2:29193895 [GRCh38]
Chr2:29416761 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1698G>T (p.Leu566Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003306607] |
Chr2:29297007 [GRCh38]
Chr2:29519873 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.259G>A (p.Ala87Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003306608] |
Chr2:29920401 [GRCh38]
Chr2:30143267 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.43T>C (p.Ser15Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003306611] |
Chr2:29920617 [GRCh38]
Chr2:30143483 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4428G>A (p.Val1476=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003306613] |
Chr2:29193659 [GRCh38]
Chr2:29416525 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3303G>T (p.Lys1101Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003306614] |
Chr2:29223398 [GRCh38]
Chr2:29446264 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1929G>T (p.Lys643Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003306615]|Neuroblastoma, susceptibility to, 3 [RCV003633701] |
Chr2:29275211 [GRCh38]
Chr2:29498077 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3450+4A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003306616] |
Chr2:29222513 [GRCh38]
Chr2:29445379 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3740A>C (p.His1247Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003306618] |
Chr2:29213987 [GRCh38]
Chr2:29436853 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1383T>G (p.Cys461Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003306619] |
Chr2:29328381 [GRCh38]
Chr2:29551247 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3604G>C (p.Gly1202Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003306620]|Neuroblastoma, susceptibility to, 3 [RCV003517481] |
Chr2:29220747 [GRCh38]
Chr2:29443613 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2255T>G (p.Met752Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003306621] |
Chr2:29239780 [GRCh38]
Chr2:29462646 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1340C>A (p.Thr447Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003306622]|Neuroblastoma, susceptibility to, 3 [RCV003517482] |
Chr2:29328424 [GRCh38]
Chr2:29551290 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2594C>G (p.Ser865Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003306623] |
Chr2:29232342 [GRCh38]
Chr2:29455208 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.356A>T (p.Glu119Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003191483] |
Chr2:29920304 [GRCh38]
Chr2:30143170 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4171G>C (p.Asp1391His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003191497] |
Chr2:29193916 [GRCh38]
Chr2:29416782 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2625A>T (p.Gly875=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172230] |
Chr2:29232311 [GRCh38]
Chr2:29455177 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2624G>T (p.Gly875Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172231] |
Chr2:29232312 [GRCh38]
Chr2:29455178 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2372A>G (p.Gln791Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172232] |
Chr2:29233680 [GRCh38]
Chr2:29456546 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4066G>A (p.Gly1356Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172233] |
Chr2:29197549 [GRCh38]
Chr2:29420415 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4251C>A (p.Asp1417Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172234] |
Chr2:29193836 [GRCh38]
Chr2:29416702 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2584G>C (p.Glu862Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003176306]|Neuroblastoma, susceptibility to, 3 [RCV003517462] |
Chr2:29232352 [GRCh38]
Chr2:29455218 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.428T>C (p.Leu143Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003176307] |
Chr2:29920232 [GRCh38]
Chr2:30143098 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2596T>A (p.Ser866Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003165044]|Neuroblastoma, susceptibility to, 3 [RCV003517463] |
Chr2:29232340 [GRCh38]
Chr2:29455206 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4716C>G (p.Phe1572Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003165045] |
Chr2:29193371 [GRCh38]
Chr2:29416237 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.747G>A (p.Met249Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003203881] |
Chr2:29717618 [GRCh38]
Chr2:29940484 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2660C>T (p.Thr887Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003165034] |
Chr2:29229039 [GRCh38]
Chr2:29451905 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4581A>C (p.Pro1527=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003165037] |
Chr2:29193506 [GRCh38]
Chr2:29416372 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2122T>G (p.Ser708Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003165043]|not provided [RCV003314761] |
Chr2:29251187 [GRCh38]
Chr2:29474053 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2249C>T (p.Thr750Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003198854] |
Chr2:29239786 [GRCh38]
Chr2:29462652 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2647T>C (p.Trp883Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172184] |
Chr2:29229052 [GRCh38]
Chr2:29451918 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2113T>C (p.Tyr705His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172185] |
Chr2:29251196 [GRCh38]
Chr2:29474062 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3613A>G (p.Lys1205Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172186] |
Chr2:29220738 [GRCh38]
Chr2:29443604 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3485T>A (p.Leu1162Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172187] |
Chr2:29222374 [GRCh38]
Chr2:29445240 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4060T>G (p.Cys1354Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172188] |
Chr2:29197555 [GRCh38]
Chr2:29420421 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.264C>T (p.Arg88=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172197] |
Chr2:29920396 [GRCh38]
Chr2:30143262 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.2558C>T (p.Thr853Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172198]|Neuroblastoma, susceptibility to, 3 [RCV003779550] |
Chr2:29232378 [GRCh38]
Chr2:29455244 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4834A>C (p.Lys1612Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172199] |
Chr2:29193253 [GRCh38]
Chr2:29416119 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4588A>G (p.Arg1530Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172200] |
Chr2:29193499 [GRCh38]
Chr2:29416365 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2843C>A (p.Pro948His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172201] |
Chr2:29227645 [GRCh38]
Chr2:29450511 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1944A>G (p.Thr648=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172202] |
Chr2:29275196 [GRCh38]
Chr2:29498062 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1493C>A (p.Thr498Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172229] |
Chr2:29320804 [GRCh38]
Chr2:29543670 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.543C>G (p.Gly181=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003203677]|Neuroblastoma, susceptibility to, 3 [RCV003633691] |
Chr2:29920117 [GRCh38]
Chr2:30142983 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3274T>G (p.Tyr1092Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003165038] |
Chr2:29223427 [GRCh38]
Chr2:29446293 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.321G>T (p.Gly107=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003300776] |
Chr2:29920339 [GRCh38]
Chr2:30143205 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.450C>T (p.Ile150=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003300777] |
Chr2:29920210 [GRCh38]
Chr2:30143076 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.337G>T (p.Gly113Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003300778] |
Chr2:29920323 [GRCh38]
Chr2:30143189 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1888A>T (p.Ile630Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003300780] |
Chr2:29275426 [GRCh38]
Chr2:29498292 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.335C>G (p.Ala112Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003300784] |
Chr2:29920325 [GRCh38]
Chr2:30143191 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.63C>T (p.Ser21=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003300785] |
Chr2:29920597 [GRCh38]
Chr2:30143463 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4586A>T (p.Asp1529Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003203706] |
Chr2:29193501 [GRCh38]
Chr2:29416367 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2213G>T (p.Gly738Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172191]|Neuroblastoma, susceptibility to, 3 [RCV003633688] |
Chr2:29239822 [GRCh38]
Chr2:29462688 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.452T>C (p.Leu151Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172196] |
Chr2:29920208 [GRCh38]
Chr2:30143074 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1469C>A (p.Thr490Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172203] |
Chr2:29320828 [GRCh38]
Chr2:29543694 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3963A>C (p.Glu1321Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172204] |
Chr2:29197652 [GRCh38]
Chr2:29420518 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1736G>C (p.Arg579Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172205]|Neuroblastoma, susceptibility to, 3 [RCV003517467] |
Chr2:29296969 [GRCh38]
Chr2:29519835 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3247C>A (p.Leu1083Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172222]|Neuroblastoma, susceptibility to, 3 [RCV003779551] |
Chr2:29223454 [GRCh38]
Chr2:29446320 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2565G>C (p.Thr855=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172223] |
Chr2:29232371 [GRCh38]
Chr2:29455237 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.127C>A (p.Pro43Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172224] |
Chr2:29920533 [GRCh38]
Chr2:30143399 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.839T>G (p.Leu280Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172225] |
Chr2:29694963 [GRCh38]
Chr2:29917829 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.474C>A (p.Pro158=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172226] |
Chr2:29920186 [GRCh38]
Chr2:30143052 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1092G>A (p.Gln364=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172227] |
Chr2:29531977 [GRCh38]
Chr2:29754843 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4841G>C (p.Ser1614Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003172228] |
Chr2:29193246 [GRCh38]
Chr2:29416112 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1751T>C (p.Val584Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003176308] |
Chr2:29296954 [GRCh38]
Chr2:29519820 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2841C>G (p.Asp947Glu) |
single nucleotide variant |
not provided [RCV003229244] |
Chr2:29227647 [GRCh38]
Chr2:29450513 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2085C>G (p.Gly695=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003203823]|Neuroblastoma, susceptibility to, 3 [RCV003779687] |
Chr2:29251224 [GRCh38]
Chr2:29474090 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3435G>A (p.Leu1145=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003165035] |
Chr2:29222532 [GRCh38]
Chr2:29445398 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3634C>A (p.Arg1212Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003165036]|Neuroblastoma, susceptibility to, 3 [RCV003633683] |
Chr2:29220717 [GRCh38]
Chr2:29443583 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.105G>A (p.Gly35=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003203769]|Neuroblastoma, susceptibility to, 3 [RCV003633692] |
Chr2:29920555 [GRCh38]
Chr2:30143421 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4288G>T (p.Ala1430Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633706]|not provided [RCV003323197] |
Chr2:29193799 [GRCh38]
Chr2:29416665 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1426G>C (p.Val476Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003305285] |
Chr2:29320871 [GRCh38]
Chr2:29543737 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.276T>A (p.Ala92=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003310318] |
Chr2:29920384 [GRCh38]
Chr2:30143250 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.2884C>A (p.Leu962Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003310320] |
Chr2:29227604 [GRCh38]
Chr2:29450470 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2278C>T (p.Leu760=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003310321] |
Chr2:29239757 [GRCh38]
Chr2:29462623 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1933C>A (p.Leu645Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003310322] |
Chr2:29275207 [GRCh38]
Chr2:29498073 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3939-3C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003310323] |
Chr2:29197679 [GRCh38]
Chr2:29420545 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3401A>G (p.Gln1134Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003310326] |
Chr2:29222566 [GRCh38]
Chr2:29445432 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3830T>C (p.Ile1277Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003310328] |
Chr2:29209792 [GRCh38]
Chr2:29432658 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.889G>C (p.Glu297Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003310329] |
Chr2:29694913 [GRCh38]
Chr2:29917779 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4786G>T (p.Ala1596Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003310330] |
Chr2:29193301 [GRCh38]
Chr2:29416167 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.844G>C (p.Asp282His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003310332] |
Chr2:29694958 [GRCh38]
Chr2:29917824 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3066T>G (p.Ile1022Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003310333] |
Chr2:29226923 [GRCh38]
Chr2:29449789 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4710T>A (p.Pro1570=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003310334] |
Chr2:29193377 [GRCh38]
Chr2:29416243 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1718C>G (p.Thr573Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003306610] |
Chr2:29296987 [GRCh38]
Chr2:29519853 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.858G>A (p.Gln286=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003306626]|Neuroblastoma, susceptibility to, 3 [RCV003633702] |
Chr2:29694944 [GRCh38]
Chr2:29917810 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1418A>C (p.Lys473Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003306627] |
Chr2:29320879 [GRCh38]
Chr2:29543745 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2922A>C (p.Glu974Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003306628] |
Chr2:29227067 [GRCh38]
Chr2:29449933 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4259G>C (p.Gly1420Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003306629] |
Chr2:29193828 [GRCh38]
Chr2:29416694 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1542C>T (p.His514=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003306630] |
Chr2:29320755 [GRCh38]
Chr2:29543621 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.507T>G (p.Asn169Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003306631] |
Chr2:29920153 [GRCh38]
Chr2:30143019 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3153T>C (p.Ala1051=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003306632] |
Chr2:29225480 [GRCh38]
Chr2:29448346 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3286T>C (p.Tyr1096His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003306633] |
Chr2:29223415 [GRCh38]
Chr2:29446281 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4096T>A (p.Trp1366Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003306635] |
Chr2:29196838 [GRCh38]
Chr2:29419704 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2758G>A (p.Gly920Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003306636] |
Chr2:29228941 [GRCh38]
Chr2:29451807 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.44_49delinsACACGA (p.Ser15_Ala17delinsTyrThrThr) |
indel |
not provided [RCV003324898] |
Chr2:29920611..29920616 [GRCh38]
Chr2:30143477..30143482 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2453G>A (p.Gly818Glu) |
single nucleotide variant |
not provided [RCV003319870] |
Chr2:29233599 [GRCh38]
Chr2:29456465 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3068-504C>T |
single nucleotide variant |
not provided [RCV003425563] |
Chr2:29226069 [GRCh38]
Chr2:29448935 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.1954T>G (p.Ser652Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003341785] |
Chr2:29275186 [GRCh38]
Chr2:29498052 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4372G>A (p.Ala1458Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003341792] |
Chr2:29193715 [GRCh38]
Chr2:29416581 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.946C>G (p.Pro316Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003341773]|Neuroblastoma, susceptibility to, 3 [RCV003466070] |
Chr2:29694856 [GRCh38]
Chr2:29917722 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.935C>T (p.Ser312Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003341775] |
Chr2:29694867 [GRCh38]
Chr2:29917733 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4778T>C (p.Leu1593Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003341783] |
Chr2:29193309 [GRCh38]
Chr2:29416175 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.80A>C (p.Gln27Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003341786] |
Chr2:29920580 [GRCh38]
Chr2:30143446 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3258G>C (p.Ser1086=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003341790] |
Chr2:29223443 [GRCh38]
Chr2:29446309 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2044C>T (p.His682Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003341780]|Neuroblastoma, susceptibility to, 3 [RCV003777477] |
Chr2:29251265 [GRCh38]
Chr2:29474131 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4290A>C (p.Ala1430=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003341781] |
Chr2:29193797 [GRCh38]
Chr2:29416663 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2682A>G (p.Lys894=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003341784] |
Chr2:29229017 [GRCh38]
Chr2:29451883 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.935C>G (p.Ser312Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003341787] |
Chr2:29694867 [GRCh38]
Chr2:29917733 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1326T>C (p.Thr442=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003359483] |
Chr2:29328438 [GRCh38]
Chr2:29551304 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4185C>A (p.Thr1395=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003358396] |
Chr2:29193902 [GRCh38]
Chr2:29416768 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1569C>G (p.Thr523=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003358397] |
Chr2:29318382 [GRCh38]
Chr2:29541248 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.244G>C (p.Ala82Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003358406] |
Chr2:29920416 [GRCh38]
Chr2:30143282 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4317T>G (p.Ala1439=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003358407]|Neuroblastoma, susceptibility to, 3 [RCV003517487] |
Chr2:29193770 [GRCh38]
Chr2:29416636 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.76G>C (p.Gly26Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003358400] |
Chr2:29920584 [GRCh38]
Chr2:30143450 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.877A>T (p.Ile293Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003358405] |
Chr2:29694925 [GRCh38]
Chr2:29917791 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2072G>A (p.Ser691Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003358398] |
Chr2:29251237 [GRCh38]
Chr2:29474103 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1203A>C (p.Arg401=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003358402] |
Chr2:29383811 [GRCh38]
Chr2:29606677 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.347C>G (p.Ala116Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003360927] |
Chr2:29920313 [GRCh38]
Chr2:30143179 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1638T>A (p.Ser546=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003360674] |
Chr2:29318313 [GRCh38]
Chr2:29541179 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2377G>C (p.Val793Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003360678] |
Chr2:29233675 [GRCh38]
Chr2:29456541 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2593T>C (p.Ser865Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003360679] |
Chr2:29232343 [GRCh38]
Chr2:29455209 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3254C>T (p.Thr1085Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003360693] |
Chr2:29223447 [GRCh38]
Chr2:29446313 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4133T>G (p.Ile1378Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003360694] |
Chr2:29196801 [GRCh38]
Chr2:29419667 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4634T>G (p.Val1545Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003360696] |
Chr2:29193453 [GRCh38]
Chr2:29416319 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.389G>A (p.Gly130Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003360680] |
Chr2:29920271 [GRCh38]
Chr2:30143137 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4740G>C (p.Gly1580=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003341774] |
Chr2:29193347 [GRCh38]
Chr2:29416213 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4145G>A (p.Arg1382Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003341777] |
Chr2:29196789 [GRCh38]
Chr2:29419655 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3601G>A (p.Gly1201Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003341778]|Neuroblastoma, susceptibility to, 3 [RCV003777476] |
Chr2:29220750 [GRCh38]
Chr2:29443616 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1652G>T (p.Arg551Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003341779] |
Chr2:29297053 [GRCh38]
Chr2:29519919 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2982A>T (p.Glu994Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003341788] |
Chr2:29227007 [GRCh38]
Chr2:29449873 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3638C>T (p.Pro1213Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003341791] |
Chr2:29220713 [GRCh38]
Chr2:29443579 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4485C>G (p.Ser1495=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003358394] |
Chr2:29193602 [GRCh38]
Chr2:29416468 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1739T>A (p.Met580Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003358399] |
Chr2:29296966 [GRCh38]
Chr2:29519832 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3882G>C (p.Lys1294Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003358393] |
Chr2:29207227 [GRCh38]
Chr2:29430093 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3170T>G (p.Ile1057Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003358392] |
Chr2:29225463 [GRCh38]
Chr2:29448329 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3165C>T (p.Ile1055=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003358395] |
Chr2:29225468 [GRCh38]
Chr2:29448334 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1419A>T (p.Lys473Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003358401] |
Chr2:29320878 [GRCh38]
Chr2:29543744 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3074C>T (p.Pro1025Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003358404] |
Chr2:29225559 [GRCh38]
Chr2:29448425 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3806G>A (p.Gly1269Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003360681] |
Chr2:29209816 [GRCh38]
Chr2:29432682 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1063C>T (p.Leu355=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003360682] |
Chr2:29532006 [GRCh38]
Chr2:29754872 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3720G>C (p.Leu1240Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003360684] |
Chr2:29214007 [GRCh38]
Chr2:29436873 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.147G>C (p.Leu49=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003360686] |
Chr2:29920513 [GRCh38]
Chr2:30143379 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.1017G>A (p.Arg339=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003360688] |
Chr2:29532052 [GRCh38]
Chr2:29754918 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2611A>G (p.Asn871Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003360690] |
Chr2:29232325 [GRCh38]
Chr2:29455191 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3570G>T (p.Leu1190=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003360692] |
Chr2:29220781 [GRCh38]
Chr2:29443647 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3945dup (p.Gly1316fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV003360695] |
Chr2:29197669..29197670 [GRCh38]
Chr2:29420535..29420536 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3772A>C (p.Thr1258Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003360677] |
Chr2:29209850 [GRCh38]
Chr2:29432716 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.793G>C (p.Glu265Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003360687] |
Chr2:29695009 [GRCh38]
Chr2:29917875 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3387G>A (p.Glu1129=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003360691] |
Chr2:29222580 [GRCh38]
Chr2:29445446 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.230C>T (p.Ser77Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003387024] |
Chr2:29920430 [GRCh38]
Chr2:30143296 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1862C>A (p.Ala621Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003387025] |
Chr2:29275452 [GRCh38]
Chr2:29498318 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2645G>A (p.Gly882Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003387026] |
Chr2:29229054 [GRCh38]
Chr2:29451920 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1768T>G (p.Leu590Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003387027] |
Chr2:29296937 [GRCh38]
Chr2:29519803 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3138C>G (p.Ala1046=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003387016] |
Chr2:29225495 [GRCh38]
Chr2:29448361 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3833A>G (p.Tyr1278Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003351667]|Neuroblastoma, susceptibility to, 3 [RCV003517488] |
Chr2:29209789 [GRCh38]
Chr2:29432655 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3230A>G (p.Glu1077Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003364182] |
Chr2:29223471 [GRCh38]
Chr2:29446337 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2231G>C (p.Gly744Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003364213] |
Chr2:29239804 [GRCh38]
Chr2:29462670 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1970A>G (p.Glu657Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003461797] |
Chr2:29275170 [GRCh38]
Chr2:29498036 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2447G>A (p.Gly816Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003468249] |
Chr2:29233605 [GRCh38]
Chr2:29456471 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.5G>C (p.Gly2Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003468360] |
Chr2:29920655 [GRCh38]
Chr2:30143521 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1967T>C (p.Phe656Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003368075] |
Chr2:29275173 [GRCh38]
Chr2:29498039 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1706T>C (p.Val569Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003469874] |
Chr2:29296999 [GRCh38]
Chr2:29519865 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2513T>C (p.Leu838Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003469981] |
Chr2:29232423 [GRCh38]
Chr2:29455289 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3121A>G (p.Thr1041Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003470002] |
Chr2:29225512 [GRCh38]
Chr2:29448378 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4585G>C (p.Asp1529His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003470006] |
Chr2:29193502 [GRCh38]
Chr2:29416368 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4056G>T (p.Lys1352Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003387017]|Neuroblastoma, susceptibility to, 3 [RCV003778105] |
Chr2:29197559 [GRCh38]
Chr2:29420425 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2387G>A (p.Gly796Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003387018]|Neuroblastoma, susceptibility to, 3 [RCV003778106] |
Chr2:29233665 [GRCh38]
Chr2:29456531 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4268C>T (p.Pro1423Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003387019]|Neuroblastoma, susceptibility to, 3 [RCV003633710] |
Chr2:29193819 [GRCh38]
Chr2:29416685 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2695G>T (p.Gly899Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003387020] |
Chr2:29229004 [GRCh38]
Chr2:29451870 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4420G>A (p.Gly1474Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003387021] |
Chr2:29193667 [GRCh38]
Chr2:29416533 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1589A>C (p.Glu530Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003387022] |
Chr2:29318362 [GRCh38]
Chr2:29541228 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3944T>C (p.Phe1315Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003461660] |
Chr2:29197671 [GRCh38]
Chr2:29420537 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2287T>G (p.Phe763Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003461597] |
Chr2:29239748 [GRCh38]
Chr2:29462614 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3622C>T (p.Leu1208Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003461735] |
Chr2:29220729 [GRCh38]
Chr2:29443595 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1789G>C (p.Val597Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003476437] |
Chr2:29296916 [GRCh38]
Chr2:29519782 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4446G>C (p.Gln1482His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003873320] |
Chr2:29193641 [GRCh38]
Chr2:29416507 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2306A>G (p.Asp769Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003476414] |
Chr2:29239729 [GRCh38]
Chr2:29462595 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4543C>A (p.Pro1515Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003461636] |
Chr2:29193544 [GRCh38]
Chr2:29416410 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3813C>A (p.Phe1271Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003874635] |
Chr2:29209809 [GRCh38]
Chr2:29432675 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4453C>A (p.Pro1485Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003874684] |
Chr2:29193634 [GRCh38]
Chr2:29416500 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2083G>T (p.Gly695Cys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003469863] |
Chr2:29251226 [GRCh38]
Chr2:29474092 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2551G>T (p.Ala851Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003469972] |
Chr2:29232385 [GRCh38]
Chr2:29455251 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4165-1G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003875731] |
Chr2:29193923 [GRCh38]
Chr2:29416789 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1789G>A (p.Val597Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003874992] |
Chr2:29296916 [GRCh38]
Chr2:29519782 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.742A>G (p.Ile248Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003476456] |
Chr2:29717623 [GRCh38]
Chr2:29940489 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3305C>G (p.Thr1102Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003469922] |
Chr2:29223396 [GRCh38]
Chr2:29446262 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3172+549T>C |
single nucleotide variant |
not provided [RCV003425561] |
Chr2:29224912 [GRCh38]
Chr2:29447778 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.3067+26A>G |
single nucleotide variant |
not provided [RCV003425566] |
Chr2:29226896 [GRCh38]
Chr2:29449762 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.625C>T (p.Arg209Cys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003461739] |
Chr2:29920035 [GRCh38]
Chr2:30142901 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3281C>T (p.Pro1094Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003476420] |
Chr2:29223420 [GRCh38]
Chr2:29446286 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3793G>C (p.Val1265Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003476455] |
Chr2:29209829 [GRCh38]
Chr2:29432695 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3173-662del |
deletion |
not provided [RCV003425558] |
Chr2:29224190 [GRCh38]
Chr2:29447056 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.2389G>A (p.Glu797Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003461696] |
Chr2:29233663 [GRCh38]
Chr2:29456529 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2235_2243dup (p.Lys748_Asn749insGlyGlyLys) |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV003468325] |
Chr2:29239791..29239792 [GRCh38]
Chr2:29462657..29462658 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3766C>T (p.Leu1256Phe) |
single nucleotide variant |
not provided [RCV003415538] |
Chr2:29209856 [GRCh38]
Chr2:29432722 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3068-360_3068-357del |
microsatellite |
not provided [RCV003415540] |
Chr2:29225922..29225925 [GRCh38]
Chr2:29448788..29448791 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3173-791C>A |
single nucleotide variant |
not provided [RCV003415539] |
Chr2:29224319 [GRCh38]
Chr2:29447185 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.3172+722A>G |
single nucleotide variant |
not provided [RCV003425559] |
Chr2:29224739 [GRCh38]
Chr2:29447605 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.4350C>T (p.Gly1450=) |
single nucleotide variant |
not provided [RCV003425557] |
Chr2:29193737 [GRCh38]
Chr2:29416603 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3067+91G>A |
single nucleotide variant |
not provided [RCV003425564] |
Chr2:29226831 [GRCh38]
Chr2:29449697 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3067+89C>G |
single nucleotide variant |
not provided [RCV003425565] |
Chr2:29226833 [GRCh38]
Chr2:29449699 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.3172+678C>T |
single nucleotide variant |
not provided [RCV003425560] |
Chr2:29224783 [GRCh38]
Chr2:29447649 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.3068-43A>G |
single nucleotide variant |
not provided [RCV003425562] |
Chr2:29225608 [GRCh38]
Chr2:29448474 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.637C>A (p.Pro213Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003469803] |
Chr2:29920023 [GRCh38]
Chr2:30142889 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3637C>G (p.Pro1213Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003469822] |
Chr2:29220714 [GRCh38]
Chr2:29443580 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3137C>T (p.Ala1046Val) |
single nucleotide variant |
not provided [RCV003443499] |
Chr2:29225496 [GRCh38]
Chr2:29448362 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1078A>T (p.Arg360Trp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003469994] |
Chr2:29531991 [GRCh38]
Chr2:29754857 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3248T>C (p.Leu1083Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517586] |
Chr2:29223453 [GRCh38]
Chr2:29446319 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3914T>C (p.Ile1305Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518029] |
Chr2:29207195 [GRCh38]
Chr2:29430061 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.838C>G (p.Leu280Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518030] |
Chr2:29694964 [GRCh38]
Chr2:29917830 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3985C>T (p.Pro1329Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518168] |
Chr2:29197630 [GRCh38]
Chr2:29420496 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1060C>T (p.His354Tyr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518331] |
Chr2:29532009 [GRCh38]
Chr2:29754875 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1008G>T (p.Pro336=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518467] |
Chr2:29532061 [GRCh38]
Chr2:29754927 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1547-13T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003849232] |
Chr2:29318417 [GRCh38]
Chr2:29541283 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2915-19C>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518468] |
Chr2:29227093 [GRCh38]
Chr2:29449959 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1155-4C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518474] |
Chr2:29383863 [GRCh38]
Chr2:29606729 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2140G>A (p.Val714Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518629] |
Chr2:29251169 [GRCh38]
Chr2:29474035 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2136G>A (p.Val712=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003876235] |
Chr2:29251173 [GRCh38]
Chr2:29474039 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1269G>T (p.Lys423Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517662] |
Chr2:29383745 [GRCh38]
Chr2:29606611 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3383G>A (p.Gly1128Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518223] |
Chr2:29222584 [GRCh38]
Chr2:29445450 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1431T>C (p.Gly477=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518475] |
Chr2:29320866 [GRCh38]
Chr2:29543732 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2T>C (p.Met1Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518482] |
Chr2:29920658 [GRCh38]
Chr2:30143524 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3085C>T (p.Pro1029Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518634] |
Chr2:29225548 [GRCh38]
Chr2:29448414 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2394C>A (p.Asn798Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517718] |
Chr2:29233658 [GRCh38]
Chr2:29456524 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1332G>T (p.Trp444Cys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517728] |
Chr2:29328432 [GRCh38]
Chr2:29551298 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3668T>C (p.Met1223Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003516721] |
Chr2:29214059 [GRCh38]
Chr2:29436925 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.257_263dup (p.Ser90fs) |
microsatellite |
Neuroblastoma, susceptibility to, 3 [RCV003516728] |
Chr2:29920396..29920397 [GRCh38]
Chr2:30143262..30143263 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.576G>C (p.Glu192Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518057] |
Chr2:29920084 [GRCh38]
Chr2:30142950 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4041del (p.Met1348fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV003518233] |
Chr2:29197574 [GRCh38]
Chr2:29420440 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.697A>T (p.Met233Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518359] |
Chr2:29717668 [GRCh38]
Chr2:29940534 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3744A>C (p.Arg1248=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518487] |
Chr2:29209878 [GRCh38]
Chr2:29432744 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.290C>T (p.Pro97Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518643] |
Chr2:29920370 [GRCh38]
Chr2:30143236 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4233G>C (p.Val1411=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517914] |
Chr2:29193854 [GRCh38]
Chr2:29416720 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2914+14C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517913] |
Chr2:29227560 [GRCh38]
Chr2:29450426 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.795G>A (p.Glu265=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518247] |
Chr2:29695007 [GRCh38]
Chr2:29917873 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3111C>A (p.Leu1037=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518364] |
Chr2:29225522 [GRCh38]
Chr2:29448388 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.953-2A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518365] |
Chr2:29532118 [GRCh38]
Chr2:29754984 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2996C>T (p.Pro999Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518500] |
Chr2:29226993 [GRCh38]
Chr2:29449859 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1034G>T (p.Cys345Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003516902] |
Chr2:29532035 [GRCh38]
Chr2:29754901 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1263C>G (p.Ala421=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003516904] |
Chr2:29383751 [GRCh38]
Chr2:29606617 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1913-2A>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003516919] |
Chr2:29275229 [GRCh38]
Chr2:29498095 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3446T>C (p.Val1149Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003516941] |
Chr2:29222521 [GRCh38]
Chr2:29445387 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.185C>G (p.Ser62Trp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517614] |
Chr2:29920475 [GRCh38]
Chr2:30143341 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.478G>T (p.Glu160Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518061] |
Chr2:29920182 [GRCh38]
Chr2:30143048 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1568C>A (p.Thr523Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518065] |
Chr2:29318383 [GRCh38]
Chr2:29541249 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4434G>A (p.Met1478Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517988] |
Chr2:29193653 [GRCh38]
Chr2:29416519 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2785T>G (p.Ser929Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518519] |
Chr2:29228914 [GRCh38]
Chr2:29451780 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.332C>G (p.Thr111Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003516950] |
Chr2:29920328 [GRCh38]
Chr2:30143194 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4560T>A (p.Asn1520Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518129] |
Chr2:29193527 [GRCh38]
Chr2:29416393 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1522G>T (p.Asp508Tyr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518530] |
Chr2:29320775 [GRCh38]
Chr2:29543641 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3578T>C (p.Phe1193Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517843] |
Chr2:29220773 [GRCh38]
Chr2:29443639 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2360A>G (p.Asn787Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517780] |
Chr2:29233692 [GRCh38]
Chr2:29456558 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1546+11T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518271] |
Chr2:29320740 [GRCh38]
Chr2:29543606 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1414+3G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518536] |
Chr2:29328347 [GRCh38]
Chr2:29551213 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4752C>G (p.Tyr1584Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517971] |
Chr2:29193335 [GRCh38]
Chr2:29416201 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1609G>T (p.Ala537Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518013] |
Chr2:29318342 [GRCh38]
Chr2:29541208 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2128C>A (p.Leu710Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518281] |
Chr2:29251181 [GRCh38]
Chr2:29474047 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1283-20T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518384] |
Chr2:29328501 [GRCh38]
Chr2:29551367 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2990T>A (p.Met997Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518386] |
Chr2:29226999 [GRCh38]
Chr2:29449865 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3938+5G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003516903] |
Chr2:29207166 [GRCh38]
Chr2:29430032 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1681A>G (p.Arg561Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517945] |
Chr2:29297024 [GRCh38]
Chr2:29519890 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3785C>G (p.Pro1262Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518208] |
Chr2:29209837 [GRCh38]
Chr2:29432703 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2487+20A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518399] |
Chr2:29233545 [GRCh38]
Chr2:29456411 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3740A>T (p.His1247Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003516967] |
Chr2:29213987 [GRCh38]
Chr2:29436853 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2815+14G>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003829975] |
Chr2:29228870 [GRCh38]
Chr2:29451736 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2510C>G (p.Pro837Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517544] |
Chr2:29232426 [GRCh38]
Chr2:29455292 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4861_*4del (p.Ter1621GlyextTer?) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV003518071] |
Chr2:29193220..29193226 [GRCh38]
Chr2:29416086..29416092 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1893C>T (p.Ser631=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518073] |
Chr2:29275421 [GRCh38]
Chr2:29498287 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2018A>C (p.Gln673Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518194] |
Chr2:29275122 [GRCh38]
Chr2:29497988 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1283-15C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518400] |
Chr2:29328496 [GRCh38]
Chr2:29551362 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.482C>T (p.Ala161Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518567] |
Chr2:29920178 [GRCh38]
Chr2:30143044 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3187C>A (p.His1063Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517053] |
Chr2:29223514 [GRCh38]
Chr2:29446380 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.242A>G (p.Lys81Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517056] |
Chr2:29920418 [GRCh38]
Chr2:30143284 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3743+10_3743+11delinsGA |
indel |
Neuroblastoma, susceptibility to, 3 [RCV003518088] |
Chr2:29213973..29213974 [GRCh38]
Chr2:29436839..29436840 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1647+17C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518417] |
Chr2:29318287 [GRCh38]
Chr2:29541153 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3391T>G (p.Tyr1131Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518575] |
Chr2:29222576 [GRCh38]
Chr2:29445442 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3682C>T (p.His1228Tyr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518582] |
Chr2:29214045 [GRCh38]
Chr2:29436911 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1546+9G>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517675] |
Chr2:29320742 [GRCh38]
Chr2:29543608 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4235C>G (p.Pro1412Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517680] |
Chr2:29193852 [GRCh38]
Chr2:29416718 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4678T>C (p.Ser1560Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517775] |
Chr2:29193409 [GRCh38]
Chr2:29416275 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3068T>G (p.Val1023Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518096] |
Chr2:29225565 [GRCh38]
Chr2:29448431 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2888dup (p.Ile964fs) |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV003518102] |
Chr2:29227599..29227600 [GRCh38]
Chr2:29450465..29450466 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3451-17T>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518285] |
Chr2:29222425 [GRCh38]
Chr2:29445291 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.636G>T (p.Gln212His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518418] |
Chr2:29920024 [GRCh38]
Chr2:30142890 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1647+12T>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518420] |
Chr2:29318292 [GRCh38]
Chr2:29541158 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2816-13G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518424] |
Chr2:29227685 [GRCh38]
Chr2:29450551 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1119A>C (p.Arg373Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518588] |
Chr2:29531950 [GRCh38]
Chr2:29754816 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2205-13T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518592] |
Chr2:29239843 [GRCh38]
Chr2:29462709 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3946G>T (p.Gly1316Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517818] |
Chr2:29197669 [GRCh38]
Chr2:29420535 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3646-14_3646-13del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV003517844] |
Chr2:29214094..29214095 [GRCh38]
Chr2:29436960..29436961 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4337C>A (p.Thr1446Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518107] |
Chr2:29193750 [GRCh38]
Chr2:29416616 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2970_2971del (p.Cys990_Glu991delinsTer) |
microsatellite |
Neuroblastoma, susceptibility to, 3 [RCV003518117] |
Chr2:29227018..29227019 [GRCh38]
Chr2:29449884..29449885 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.358G>A (p.Ala120Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518119] |
Chr2:29920302 [GRCh38]
Chr2:30143168 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2390A>G (p.Glu797Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518437] |
Chr2:29233662 [GRCh38]
Chr2:29456528 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2878A>G (p.Ser960Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518593] |
Chr2:29227610 [GRCh38]
Chr2:29450476 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1080G>T (p.Arg360Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517934] |
Chr2:29531989 [GRCh38]
Chr2:29754855 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1461T>C (p.Cys487=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517939] |
Chr2:29320836 [GRCh38]
Chr2:29543702 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4059C>T (p.Asn1353=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518120] |
Chr2:29197556 [GRCh38]
Chr2:29420422 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4477C>T (p.His1493Tyr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518130] |
Chr2:29193610 [GRCh38]
Chr2:29416476 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.491G>A (p.Gly164Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518613] |
Chr2:29920169 [GRCh38]
Chr2:30143035 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1899C>T (p.Asp633=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518614] |
Chr2:29275415 [GRCh38]
Chr2:29498281 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.896C>A (p.Ser299Tyr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517958] |
Chr2:29694906 [GRCh38]
Chr2:29917772 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4074-15T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518137] |
Chr2:29196875 [GRCh38]
Chr2:29419741 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4713G>C (p.Leu1571=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518141] |
Chr2:29193374 [GRCh38]
Chr2:29416240 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2741G>C (p.Gly914Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518455] |
Chr2:29228958 [GRCh38]
Chr2:29451824 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.58G>A (p.Gly20Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518626] |
Chr2:29920602 [GRCh38]
Chr2:30143468 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1912+12C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518007] |
Chr2:29275390 [GRCh38]
Chr2:29498256 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2644G>A (p.Gly882Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518009] |
Chr2:29229055 [GRCh38]
Chr2:29451921 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1715A>G (p.Lys572Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518010] |
Chr2:29296990 [GRCh38]
Chr2:29519856 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3360-4del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV003518012] |
Chr2:29222611 [GRCh38]
Chr2:29445477 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2721C>G (p.Pro907=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518016] |
Chr2:29228978 [GRCh38]
Chr2:29451844 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1912+15A>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517923] |
Chr2:29275387 [GRCh38]
Chr2:29498253 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1704A>G (p.Leu568=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518151] |
Chr2:29297001 [GRCh38]
Chr2:29519867 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2204+12A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518326] |
Chr2:29251093 [GRCh38]
Chr2:29473959 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3646-6C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518328] |
Chr2:29214087 [GRCh38]
Chr2:29436953 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4805G>C (p.Gly1602Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518028] |
Chr2:29193282 [GRCh38]
Chr2:29416148 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.612G>C (p.Leu204=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518466] |
Chr2:29920048 [GRCh38]
Chr2:30142914 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.667+4A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518039] |
Chr2:29919989 [GRCh38]
Chr2:30142855 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1685G>T (p.Gly562Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518052] |
Chr2:29297020 [GRCh38]
Chr2:29519886 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2632+10del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV003518017] |
Chr2:29232294 [GRCh38]
Chr2:29455160 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4074-5T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517035] |
Chr2:29196865 [GRCh38]
Chr2:29419731 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4074-13C>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517051] |
Chr2:29196873 [GRCh38]
Chr2:29419739 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2633-19T>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003516685] |
Chr2:29229085 [GRCh38]
Chr2:29451951 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.592G>C (p.Val198Leu) |
single nucleotide variant |
not provided [RCV003489549] |
Chr2:29920068 [GRCh38]
Chr2:30142934 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3204C>T (p.Ala1068=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003828829] |
Chr2:29223497 [GRCh38]
Chr2:29446363 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.484G>A (p.Ala162Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003516743] |
Chr2:29920176 [GRCh38]
Chr2:30143042 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2248A>G (p.Thr750Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003516749] |
Chr2:29239787 [GRCh38]
Chr2:29462653 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.326C>T (p.Ser109Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003516750] |
Chr2:29920334 [GRCh38]
Chr2:30143200 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4469A>G (p.His1490Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003516777] |
Chr2:29193618 [GRCh38]
Chr2:29416484 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2518A>G (p.Ile840Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003879682] |
Chr2:29232418 [GRCh38]
Chr2:29455284 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3975T>C (p.Leu1325=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003516791] |
Chr2:29197640 [GRCh38]
Chr2:29420506 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4546A>C (p.Thr1516Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003516814] |
Chr2:29193541 [GRCh38]
Chr2:29416407 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3744-17A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003516823] |
Chr2:29209895 [GRCh38]
Chr2:29432761 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3334C>A (p.Pro1112Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003516825] |
Chr2:29223367 [GRCh38]
Chr2:29446233 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2887G>A (p.Gly963Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003516828] |
Chr2:29227601 [GRCh38]
Chr2:29450467 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2205-5T>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003516832] |
Chr2:29239835 [GRCh38]
Chr2:29462701 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3001A>G (p.Ser1001Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003826153] |
Chr2:29226988 [GRCh38]
Chr2:29449854 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1261G>T (p.Ala421Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003516878] |
Chr2:29383753 [GRCh38]
Chr2:29606619 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3585G>C (p.Leu1195=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003516881] |
Chr2:29220766 [GRCh38]
Chr2:29443632 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3881A>C (p.Lys1294Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003827022] |
Chr2:29207228 [GRCh38]
Chr2:29430094 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2915-14C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003516895] |
Chr2:29227088 [GRCh38]
Chr2:29449954 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.534T>G (p.Ile178Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003516911] |
Chr2:29920126 [GRCh38]
Chr2:30142992 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4323A>T (p.Pro1441=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517083] |
Chr2:29193764 [GRCh38]
Chr2:29416630 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3707G>A (p.Gly1236Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003878668] |
Chr2:29214020 [GRCh38]
Chr2:29436886 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.363G>A (p.Arg121=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003516921] |
Chr2:29920297 [GRCh38]
Chr2:30143163 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.2204+18G>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003516975] |
Chr2:29251087 [GRCh38]
Chr2:29473953 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2354G>C (p.Ser785Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517000] |
Chr2:29239681 [GRCh38]
Chr2:29462547 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3043G>A (p.Ala1015Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517025] |
Chr2:29226946 [GRCh38]
Chr2:29449812 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4678T>G (p.Ser1560Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517026] |
Chr2:29193409 [GRCh38]
Chr2:29416275 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2494G>C (p.Asp832His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003881744] |
Chr2:29232442 [GRCh38]
Chr2:29455308 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4023T>C (p.Phe1341=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517949] |
Chr2:29197592 [GRCh38]
Chr2:29420458 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1760A>T (p.Tyr587Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517951] |
Chr2:29296945 [GRCh38]
Chr2:29519811 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.739T>C (p.Trp247Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517101] |
Chr2:29717626 [GRCh38]
Chr2:29940492 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1913-4_1913-3delinsAA |
indel |
Neuroblastoma, susceptibility to, 3 [RCV003517115] |
Chr2:29275230..29275231 [GRCh38]
Chr2:29498096..29498097 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4102C>T (p.His1368Tyr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517623] |
Chr2:29196832 [GRCh38]
Chr2:29419698 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3173-13C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517626] |
Chr2:29223541 [GRCh38]
Chr2:29446407 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1157G>A (p.Trp386Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517629] |
Chr2:29383857 [GRCh38]
Chr2:29606723 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1282+6T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517964] |
Chr2:29383726 [GRCh38]
Chr2:29606592 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3529C>G (p.Gln1177Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517972] |
Chr2:29220822 [GRCh38]
Chr2:29443688 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3067+12G>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517973] |
Chr2:29226910 [GRCh38]
Chr2:29449776 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1647+10C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003516709] |
Chr2:29318294 [GRCh38]
Chr2:29541160 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3173-16G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517640] |
Chr2:29223544 [GRCh38]
Chr2:29446410 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1648-5C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517644] |
Chr2:29297062 [GRCh38]
Chr2:29519928 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3721G>A (p.Glu1241Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517648] |
Chr2:29214006 [GRCh38]
Chr2:29436872 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1402A>G (p.Ser468Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517986] |
Chr2:29328362 [GRCh38]
Chr2:29551228 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1155T>A (p.Gly385=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517666] |
Chr2:29383859 [GRCh38]
Chr2:29606725 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.542G>A (p.Gly181Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517677] |
Chr2:29920118 [GRCh38]
Chr2:30142984 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3229G>C (p.Glu1077Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003516763] |
Chr2:29223472 [GRCh38]
Chr2:29446338 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3450+6A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003877333] |
Chr2:29222511 [GRCh38]
Chr2:29445377 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1942A>G (p.Thr648Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003516792] |
Chr2:29275198 [GRCh38]
Chr2:29498064 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.952+12G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003516817] |
Chr2:29694838 [GRCh38]
Chr2:29917704 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4554_4555delinsTT (p.Lys1518_Asn1519delinsAsnTyr) |
indel |
Neuroblastoma, susceptibility to, 3 [RCV003517707] |
Chr2:29193532..29193533 [GRCh38]
Chr2:29416398..29416399 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1305G>A (p.Met435Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517713] |
Chr2:29328459 [GRCh38]
Chr2:29551325 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3451-13C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517717] |
Chr2:29222421 [GRCh38]
Chr2:29445287 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3787G>A (p.Gly1263Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003516838] |
Chr2:29209835 [GRCh38]
Chr2:29432701 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1853G>C (p.Gly618Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517723] |
Chr2:29275461 [GRCh38]
Chr2:29498327 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1579C>T (p.Pro527Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517725] |
Chr2:29318372 [GRCh38]
Chr2:29541238 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2041+6G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517730] |
Chr2:29275093 [GRCh38]
Chr2:29497959 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.176T>C (p.Val59Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003516885] |
Chr2:29920484 [GRCh38]
Chr2:30143350 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4583A>G (p.His1528Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003516949] |
Chr2:29193504 [GRCh38]
Chr2:29416370 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1382G>A (p.Cys461Tyr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003516951] |
Chr2:29328382 [GRCh38]
Chr2:29551248 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3515+19_3515+20del |
microsatellite |
Neuroblastoma, susceptibility to, 3 [RCV003517828] |
Chr2:29222324..29222325 [GRCh38]
Chr2:29445190..29445191 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.723T>C (p.Phe241=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517838] |
Chr2:29717642 [GRCh38]
Chr2:29940508 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3516-15CT[2] |
microsatellite |
Neuroblastoma, susceptibility to, 3 [RCV003517852] |
Chr2:29220845..29220846 [GRCh38]
Chr2:29443711..29443712 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2315A>G (p.Tyr772Cys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003516968] |
Chr2:29239720 [GRCh38]
Chr2:29462586 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.183C>G (p.Pro61=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003516980] |
Chr2:29920477 [GRCh38]
Chr2:30143343 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4450A>G (p.Asn1484Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517515] |
Chr2:29193637 [GRCh38]
Chr2:29416503 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2487+15_2487+16del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV003517857] |
Chr2:29233549..29233550 [GRCh38]
Chr2:29456415..29456416 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2116C>T (p.Gln706Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517877] |
Chr2:29251193 [GRCh38]
Chr2:29474059 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2075G>A (p.Gly692Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517008] |
Chr2:29251234 [GRCh38]
Chr2:29474100 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1841G>C (p.Trp614Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517797] |
Chr2:29275473 [GRCh38]
Chr2:29498339 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2860G>A (p.Asp954Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517027] |
Chr2:29227628 [GRCh38]
Chr2:29450494 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1357C>T (p.Gln453Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517547] |
Chr2:29328407 [GRCh38]
Chr2:29551273 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3451-18del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV003517578] |
Chr2:29222426 [GRCh38]
Chr2:29445292 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2929G>T (p.Gly977Trp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517587] |
Chr2:29227060 [GRCh38]
Chr2:29449926 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4092G>C (p.Gln1364His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003516646] |
Chr2:29196842 [GRCh38]
Chr2:29419708 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3516-17C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003516656] |
Chr2:29220852 [GRCh38]
Chr2:29443718 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4164+12T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517071] |
Chr2:29196758 [GRCh38]
Chr2:29419624 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1943C>A (p.Thr648Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517072] |
Chr2:29275197 [GRCh38]
Chr2:29498063 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3763T>C (p.Cys1255Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517079] |
Chr2:29209859 [GRCh38]
Chr2:29432725 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1388A>C (p.Gln463Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517082] |
Chr2:29328376 [GRCh38]
Chr2:29551242 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3433C>T (p.Leu1145=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517089] |
Chr2:29222534 [GRCh38]
Chr2:29445400 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1224C>T (p.Ser408=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517611] |
Chr2:29383790 [GRCh38]
Chr2:29606656 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3515+7C>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003517943] |
Chr2:29222337 [GRCh38]
Chr2:29445203 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4699A>G (p.Lys1567Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003828604] |
Chr2:29193388 [GRCh38]
Chr2:29416254 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3075C>T (p.Pro1025=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003879096] |
Chr2:29225558 [GRCh38]
Chr2:29448424 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4615T>C (p.Cys1539Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003881204] |
Chr2:29193472 [GRCh38]
Chr2:29416338 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.47C>T (p.Thr16Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003876874] |
Chr2:29920613 [GRCh38]
Chr2:30143479 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1626del (p.Ile543fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV003634745] |
Chr2:29318325 [GRCh38]
Chr2:29541191 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2026A>T (p.Ile676Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634729] |
Chr2:29275114 [GRCh38]
Chr2:29497980 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3650A>G (p.Gln1217Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634753] |
Chr2:29214077 [GRCh38]
Chr2:29436943 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2875A>C (p.Ile959Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634811] |
Chr2:29227613 [GRCh38]
Chr2:29450479 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2815+13C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633458] |
Chr2:29228871 [GRCh38]
Chr2:29451737 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4739G>T (p.Gly1580Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634794] |
Chr2:29193348 [GRCh38]
Chr2:29416214 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4278C>G (p.Val1426=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634797] |
Chr2:29193809 [GRCh38]
Chr2:29416675 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2183_2184insCTGGTG (p.Val728_Pro729insTrpTrp) |
insertion |
Neuroblastoma, susceptibility to, 3 [RCV003633448] |
Chr2:29251125..29251126 [GRCh38]
Chr2:29473991..29473992 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.359C>A (p.Ala120Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633457] |
Chr2:29920301 [GRCh38]
Chr2:30143167 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3157T>C (p.Ser1053Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634768] |
Chr2:29225476 [GRCh38]
Chr2:29448342 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2953C>T (p.Leu985=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634832] |
Chr2:29227036 [GRCh38]
Chr2:29449902 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3868A>G (p.Met1290Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634836] |
Chr2:29207241 [GRCh38]
Chr2:29430107 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2742dup (p.Trp915fs) |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV003634838] |
Chr2:29228956..29228957 [GRCh38]
Chr2:29451822..29451823 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3738C>T (p.Ile1246=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634831] |
Chr2:29213989 [GRCh38]
Chr2:29436855 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3586C>T (p.Leu1196=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634918] |
Chr2:29220765 [GRCh38]
Chr2:29443631 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3694G>A (p.Asp1232Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634891] |
Chr2:29214033 [GRCh38]
Chr2:29436899 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4836G>T (p.Lys1612Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634892] |
Chr2:29193251 [GRCh38]
Chr2:29416117 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4083A>G (p.Ile1361Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634903] |
Chr2:29196851 [GRCh38]
Chr2:29419717 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1283-17G>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634914] |
Chr2:29328498 [GRCh38]
Chr2:29551364 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3684C>A (p.His1228Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634919] |
Chr2:29214043 [GRCh38]
Chr2:29436909 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3360-13C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634964] |
Chr2:29222620 [GRCh38]
Chr2:29445486 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2303A>T (p.Asp768Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635091] |
Chr2:29239732 [GRCh38]
Chr2:29462598 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1949C>T (p.Pro650Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633822] |
Chr2:29275191 [GRCh38]
Chr2:29498057 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3359+16C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633829] |
Chr2:29223326 [GRCh38]
Chr2:29446192 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3431C>G (p.Pro1144Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635085] |
Chr2:29222536 [GRCh38]
Chr2:29445402 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.689C>A (p.Pro230Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635087] |
Chr2:29717676 [GRCh38]
Chr2:29940542 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1459T>G (p.Cys487Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633781] |
Chr2:29320838 [GRCh38]
Chr2:29543704 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2626G>C (p.Ala876Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635118] |
Chr2:29232310 [GRCh38]
Chr2:29455176 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4355C>A (p.Ala1452Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003834970] |
Chr2:29193732 [GRCh38]
Chr2:29416598 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.282C>T (p.Asp94=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635148] |
Chr2:29920378 [GRCh38]
Chr2:30143244 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4489A>C (p.Asn1497His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518833] |
Chr2:29193598 [GRCh38]
Chr2:29416464 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.662G>C (p.Gly221Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633821] |
Chr2:29919998 [GRCh38]
Chr2:30142864 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.305T>A (p.Leu102Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633855] |
Chr2:29920355 [GRCh38]
Chr2:30143221 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3321C>T (p.Asp1107=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633767] |
Chr2:29223380 [GRCh38]
Chr2:29446246 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1605C>G (p.Thr535=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635163] |
Chr2:29318346 [GRCh38]
Chr2:29541212 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2674dup (p.Ala892fs) |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV003635174] |
Chr2:29229024..29229025 [GRCh38]
Chr2:29451890..29451891 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3646-17C>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635184] |
Chr2:29214098 [GRCh38]
Chr2:29436964 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.787G>A (p.Gly263Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518830] |
Chr2:29717578 [GRCh38]
Chr2:29940444 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.788-19C>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633913] |
Chr2:29695033 [GRCh38]
Chr2:29917899 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2606G>A (p.Gly869Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633917] |
Chr2:29232330 [GRCh38]
Chr2:29455196 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4293A>C (p.Lys1431Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518850] |
Chr2:29193794 [GRCh38]
Chr2:29416660 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3357T>C (p.Ile1119=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633958] |
Chr2:29223344 [GRCh38]
Chr2:29446210 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1258T>C (p.Phe420Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635230] |
Chr2:29383756 [GRCh38]
Chr2:29606622 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2632+7C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633759] |
Chr2:29232297 [GRCh38]
Chr2:29455163 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3360-11C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635253] |
Chr2:29222618 [GRCh38]
Chr2:29445484 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2184G>A (p.Val728=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635287] |
Chr2:29251125 [GRCh38]
Chr2:29473991 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3180C>G (p.Arg1060=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635274] |
Chr2:29223521 [GRCh38]
Chr2:29446387 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.705T>C (p.Ser235=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633997] |
Chr2:29717660 [GRCh38]
Chr2:29940526 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.267C>G (p.Gly89=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634030] |
Chr2:29920393 [GRCh38]
Chr2:30143259 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4598T>C (p.Leu1533Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634034] |
Chr2:29193489 [GRCh38]
Chr2:29416355 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4331_4343del (p.Leu1444fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV003634043] |
Chr2:29193744..29193756 [GRCh38]
Chr2:29416610..29416622 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3965T>A (p.Ile1322Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635090] |
Chr2:29197650 [GRCh38]
Chr2:29420516 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4806T>G (p.Gly1602=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635308] |
Chr2:29193281 [GRCh38]
Chr2:29416147 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2022C>G (p.Thr674=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635332] |
Chr2:29275118 [GRCh38]
Chr2:29497984 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2888G>C (p.Gly963Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634101] |
Chr2:29227600 [GRCh38]
Chr2:29450466 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2055C>T (p.Phe685=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634133] |
Chr2:29251254 [GRCh38]
Chr2:29474120 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.867C>T (p.Ser289=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634135] |
Chr2:29694935 [GRCh38]
Chr2:29917801 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.426G>A (p.Val142=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633955] |
Chr2:29920234 [GRCh38]
Chr2:30143100 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4674G>A (p.Glu1558=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634102] |
Chr2:29193413 [GRCh38]
Chr2:29416279 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1842G>A (p.Trp614Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634208] |
Chr2:29275472 [GRCh38]
Chr2:29498338 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.591A>T (p.Glu197Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633026] |
Chr2:29920069 [GRCh38]
Chr2:30142935 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.530G>A (p.Trp177Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003832393] |
Chr2:29920130 [GRCh38]
Chr2:30142996 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2670C>A (p.Leu890=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634316] |
Chr2:29229029 [GRCh38]
Chr2:29451895 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1115C>G (p.Ala372Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634330] |
Chr2:29531954 [GRCh38]
Chr2:29754820 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4125C>T (p.Asn1375=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003849851] |
Chr2:29196809 [GRCh38]
Chr2:29419675 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3360-12T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634353] |
Chr2:29222619 [GRCh38]
Chr2:29445485 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2947C>T (p.His983Tyr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003813747] |
Chr2:29227042 [GRCh38]
Chr2:29449908 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3911G>A (p.Gly1304Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634337] |
Chr2:29207198 [GRCh38]
Chr2:29430064 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.311C>G (p.Pro104Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634286] |
Chr2:29920349 [GRCh38]
Chr2:30143215 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.104G>T (p.Gly35Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634363] |
Chr2:29920556 [GRCh38]
Chr2:30143422 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.788-14G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634382] |
Chr2:29695028 [GRCh38]
Chr2:29917894 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.953G>T (p.Gly318Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634388] |
Chr2:29532116 [GRCh38]
Chr2:29754982 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2204+3G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633149] |
Chr2:29251102 [GRCh38]
Chr2:29473968 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1088C>G (p.Ala363Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634370] |
Chr2:29531981 [GRCh38]
Chr2:29754847 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3507_3509del (p.Ile1171del) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV003633108] |
Chr2:29222350..29222352 [GRCh38]
Chr2:29445216..29445218 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.537C>G (p.Arg179=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633112] |
Chr2:29920123 [GRCh38]
Chr2:30142989 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.2251A>T (p.Met751Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633129] |
Chr2:29239784 [GRCh38]
Chr2:29462650 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2511C>T (p.Pro837=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633154] |
Chr2:29232425 [GRCh38]
Chr2:29455291 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1112C>A (p.Ala371Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633165] |
Chr2:29531957 [GRCh38]
Chr2:29754823 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1242G>A (p.Leu414=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633153] |
Chr2:29383772 [GRCh38]
Chr2:29606638 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3939-4C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634477] |
Chr2:29197680 [GRCh38]
Chr2:29420546 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3450+5G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633162] |
Chr2:29222512 [GRCh38]
Chr2:29445378 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2815+12T>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633201] |
Chr2:29228872 [GRCh38]
Chr2:29451738 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.645del (p.Leu216fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV003634507] |
Chr2:29920015 [GRCh38]
Chr2:30142881 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3839C>A (p.Ala1280Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634515] |
Chr2:29207270 [GRCh38]
Chr2:29430136 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2837A>G (p.Asn946Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633220] |
Chr2:29227651 [GRCh38]
Chr2:29450517 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.937A>C (p.Lys313Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634520] |
Chr2:29694865 [GRCh38]
Chr2:29917731 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1336G>A (p.Gly446Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634525] |
Chr2:29328428 [GRCh38]
Chr2:29551294 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.309G>A (p.Gly103=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634540] |
Chr2:29920351 [GRCh38]
Chr2:30143217 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4088C>T (p.Thr1363Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634542] |
Chr2:29196846 [GRCh38]
Chr2:29419712 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4760A>T (p.Gln1587Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633274] |
Chr2:29193327 [GRCh38]
Chr2:29416193 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.413C>G (p.Ala138Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633276] |
Chr2:29920247 [GRCh38]
Chr2:30143113 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4073+13T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633226] |
Chr2:29197529 [GRCh38]
Chr2:29420395 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3837-14del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV003633237] |
Chr2:29207286 [GRCh38]
Chr2:29430152 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1918G>T (p.Gly640Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633296] |
Chr2:29275222 [GRCh38]
Chr2:29498088 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3637C>A (p.Pro1213Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634668] |
Chr2:29220714 [GRCh38]
Chr2:29443580 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2757G>A (p.Gly919=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633325] |
Chr2:29228942 [GRCh38]
Chr2:29451808 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3450+14C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003850144] |
Chr2:29222503 [GRCh38]
Chr2:29445369 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2865G>A (p.Gly955=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633336] |
Chr2:29227623 [GRCh38]
Chr2:29450489 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4710T>G (p.Pro1570=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634681] |
Chr2:29193377 [GRCh38]
Chr2:29416243 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4261del (p.Val1421fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV003634685] |
Chr2:29193826 [GRCh38]
Chr2:29416692 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.395_408del (p.Val132fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV003634705] |
Chr2:29920252..29920265 [GRCh38]
Chr2:30143118..30143131 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.649T>C (p.Phe217Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633366] |
Chr2:29920011 [GRCh38]
Chr2:30142877 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1666A>C (p.Ile556Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633370] |
Chr2:29297039 [GRCh38]
Chr2:29519905 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2914+12G>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634686] |
Chr2:29227562 [GRCh38]
Chr2:29450428 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3545G>A (p.Cys1182Tyr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634718] |
Chr2:29220806 [GRCh38]
Chr2:29443672 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3516-15C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634719] |
Chr2:29220850 [GRCh38]
Chr2:29443716 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3747C>T (p.Asp1249=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003849847] |
Chr2:29209875 [GRCh38]
Chr2:29432741 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4597C>T (p.Leu1533=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634312] |
Chr2:29193490 [GRCh38]
Chr2:29416356 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2543C>G (p.Ala848Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634322] |
Chr2:29232393 [GRCh38]
Chr2:29455259 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4149T>C (p.Ile1383=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634890] |
Chr2:29196785 [GRCh38]
Chr2:29419651 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1210C>G (p.Leu404Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634899] |
Chr2:29383804 [GRCh38]
Chr2:29606670 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.512G>C (p.Ser171Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634915] |
Chr2:29920148 [GRCh38]
Chr2:30143014 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2620T>C (p.Ser874Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518660] |
Chr2:29232316 [GRCh38]
Chr2:29455182 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2204+16G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518718] |
Chr2:29251089 [GRCh38]
Chr2:29473955 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1647+11T>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633116] |
Chr2:29318293 [GRCh38]
Chr2:29541159 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3291C>G (p.Cys1097Trp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633734] |
Chr2:29223410 [GRCh38]
Chr2:29446276 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2948A>G (p.His983Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635019] |
Chr2:29227041 [GRCh38]
Chr2:29449907 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1647+20T>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635022] |
Chr2:29318284 [GRCh38]
Chr2:29541150 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2356-7T>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635031] |
Chr2:29233703 [GRCh38]
Chr2:29456569 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1546+1G>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518662] |
Chr2:29320750 [GRCh38]
Chr2:29543616 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.194G>T (p.Arg65Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633140] |
Chr2:29920466 [GRCh38]
Chr2:30143332 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2496T>A (p.Asp832Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633163] |
Chr2:29232440 [GRCh38]
Chr2:29455306 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3067+13G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634405] |
Chr2:29226909 [GRCh38]
Chr2:29449775 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2488-20T>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634432] |
Chr2:29232468 [GRCh38]
Chr2:29455334 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.66G>A (p.Gly22=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634439] |
Chr2:29920594 [GRCh38]
Chr2:30143460 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3273C>T (p.Asp1091=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635044] |
Chr2:29223428 [GRCh38]
Chr2:29446294 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4784C>A (p.Ala1595Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635067] |
Chr2:29193303 [GRCh38]
Chr2:29416169 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.711T>C (p.Ser237=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635068] |
Chr2:29717654 [GRCh38]
Chr2:29940520 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4292A>C (p.Lys1431Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003831930] |
Chr2:29193795 [GRCh38]
Chr2:29416661 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3515+2T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633187] |
Chr2:29222342 [GRCh38]
Chr2:29445208 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.433C>G (p.Leu145Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633188] |
Chr2:29920227 [GRCh38]
Chr2:30143093 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3786T>G (p.Pro1262=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634476] |
Chr2:29209836 [GRCh38]
Chr2:29432702 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1504C>A (p.Gln502Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634480] |
Chr2:29320793 [GRCh38]
Chr2:29543659 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2242A>C (p.Lys748Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635101] |
Chr2:29239793 [GRCh38]
Chr2:29462659 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1913-20T>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635102] |
Chr2:29275247 [GRCh38]
Chr2:29498113 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.302_323del (p.Leu101fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV003635130] |
Chr2:29920337..29920358 [GRCh38]
Chr2:30143203..30143224 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1818-14C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633211] |
Chr2:29275510 [GRCh38]
Chr2:29498376 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3552G>A (p.Gly1184=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633221] |
Chr2:29220799 [GRCh38]
Chr2:29443665 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1818-13T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633848] |
Chr2:29275509 [GRCh38]
Chr2:29498375 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.368T>C (p.Leu123Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633856] |
Chr2:29920292 [GRCh38]
Chr2:30143158 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1547-7C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633861] |
Chr2:29318411 [GRCh38]
Chr2:29541277 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4098G>T (p.Trp1366Cys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634496] |
Chr2:29196836 [GRCh38]
Chr2:29419702 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4164+5A>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635139] |
Chr2:29196765 [GRCh38]
Chr2:29419631 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.752A>G (p.Asp251Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634940] |
Chr2:29717613 [GRCh38]
Chr2:29940479 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4354G>A (p.Ala1452Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635165] |
Chr2:29193733 [GRCh38]
Chr2:29416599 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.157A>G (p.Ser53Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633241] |
Chr2:29920503 [GRCh38]
Chr2:30143369 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1647+12T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633760] |
Chr2:29318292 [GRCh38]
Chr2:29541158 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.361C>G (p.Arg121Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633758] |
Chr2:29920299 [GRCh38]
Chr2:30143165 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.668-5T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635210] |
Chr2:29717702 [GRCh38]
Chr2:29940568 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2549G>A (p.Gly850Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003856072] |
Chr2:29232387 [GRCh38]
Chr2:29455253 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3068-7C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518805] |
Chr2:29225572 [GRCh38]
Chr2:29448438 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2145G>A (p.Gly715=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633947] |
Chr2:29251164 [GRCh38]
Chr2:29474030 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.574G>C (p.Glu192Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633957] |
Chr2:29920086 [GRCh38]
Chr2:30142952 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1647+2C>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635011] |
Chr2:29318302 [GRCh38]
Chr2:29541168 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2768_2769delinsAA (p.Gly923Glu) |
indel |
Neuroblastoma, susceptibility to, 3 [RCV003635224] |
Chr2:29228930..29228931 [GRCh38]
Chr2:29451796..29451797 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2816-6A>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635250] |
Chr2:29227678 [GRCh38]
Chr2:29450544 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4108C>T (p.Pro1370Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633277] |
Chr2:29196826 [GRCh38]
Chr2:29419692 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2796AGG[1] (p.Gly936del) |
microsatellite |
Neuroblastoma, susceptibility to, 3 [RCV003633286] |
Chr2:29228898..29228900 [GRCh38]
Chr2:29451764..29451766 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4158C>T (p.Cys1386=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633980] |
Chr2:29196776 [GRCh38]
Chr2:29419642 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2816-15T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634580] |
Chr2:29227687 [GRCh38]
Chr2:29450553 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2042-13T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634615] |
Chr2:29251280 [GRCh38]
Chr2:29474146 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.256G>T (p.Glu86Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635080] |
Chr2:29920404 [GRCh38]
Chr2:30143270 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2137G>C (p.Glu713Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634666] |
Chr2:29251172 [GRCh38]
Chr2:29474038 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3514A>C (p.Ser1172Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634667] |
Chr2:29222345 [GRCh38]
Chr2:29445211 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.182C>T (p.Pro61Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003833215] |
Chr2:29920478 [GRCh38]
Chr2:30143344 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3516-10T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633334] |
Chr2:29220845 [GRCh38]
Chr2:29443711 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2699C>T (p.Ala900Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633365] |
Chr2:29229000 [GRCh38]
Chr2:29451866 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4369A>C (p.Thr1457Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634087] |
Chr2:29193718 [GRCh38]
Chr2:29416584 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1062C>A (p.His354Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634717] |
Chr2:29532007 [GRCh38]
Chr2:29754873 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3744-2del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV003634114] |
Chr2:29209880 [GRCh38]
Chr2:29432746 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4350C>G (p.Gly1450=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634138] |
Chr2:29193737 [GRCh38]
Chr2:29416603 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1283-21GT[2] |
microsatellite |
Neuroblastoma, susceptibility to, 3 [RCV003634652] |
Chr2:29328497..29328498 [GRCh38]
Chr2:29551363..29551364 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4338C>A (p.Thr1446=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635392] |
Chr2:29193749 [GRCh38]
Chr2:29416615 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.314C>G (p.Ala105Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633425] |
Chr2:29920346 [GRCh38]
Chr2:30143212 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3629A>T (p.Glu1210Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634746] |
Chr2:29220722 [GRCh38]
Chr2:29443588 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1436A>T (p.Tyr479Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634771] |
Chr2:29320861 [GRCh38]
Chr2:29543727 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4249G>A (p.Asp1417Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003840388] |
Chr2:29193838 [GRCh38]
Chr2:29416704 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1266G>A (p.Leu422=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633467] |
Chr2:29383748 [GRCh38]
Chr2:29606614 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2631A>C (p.Ala877=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634801] |
Chr2:29232305 [GRCh38]
Chr2:29455171 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.465C>G (p.Val155=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634806] |
Chr2:29920195 [GRCh38]
Chr2:30143061 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3585G>T (p.Leu1195=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634809] |
Chr2:29220766 [GRCh38]
Chr2:29443632 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2702C>T (p.Thr901Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003632993] |
Chr2:29228997 [GRCh38]
Chr2:29451863 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.563G>T (p.Arg188Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634233] |
Chr2:29920097 [GRCh38]
Chr2:30142963 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.667+11C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634295] |
Chr2:29919982 [GRCh38]
Chr2:30142848 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.2399T>A (p.Val800Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634883] |
Chr2:29233653 [GRCh38]
Chr2:29456519 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3516-1G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518822] |
Chr2:29220836 [GRCh38]
Chr2:29443702 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2632+11G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633803] |
Chr2:29232293 [GRCh38]
Chr2:29455159 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4077C>G (p.Tyr1359Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635146] |
Chr2:29196857 [GRCh38]
Chr2:29419723 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4272C>A (p.Leu1424=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635348] |
Chr2:29193815 [GRCh38]
Chr2:29416681 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2816-4T>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518840] |
Chr2:29227676 [GRCh38]
Chr2:29450542 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2456G>A (p.Gly819Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633921] |
Chr2:29233596 [GRCh38]
Chr2:29456462 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1835T>C (p.Val612Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635258] |
Chr2:29275479 [GRCh38]
Chr2:29498345 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2355+1G>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634094] |
Chr2:29239679 [GRCh38]
Chr2:29462545 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2041+10C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634232] |
Chr2:29275089 [GRCh38]
Chr2:29497955 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1904A>G (p.Tyr635Cys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634289] |
Chr2:29275410 [GRCh38]
Chr2:29498276 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1148A>C (p.Lys383Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634357] |
Chr2:29531921 [GRCh38]
Chr2:29754787 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3068-7C>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634395] |
Chr2:29225572 [GRCh38]
Chr2:29448438 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4765C>T (p.Gln1589Ter) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634273] |
Chr2:29193322 [GRCh38]
Chr2:29416188 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3065T>A (p.Ile1022Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633075] |
Chr2:29226924 [GRCh38]
Chr2:29449790 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3632C>T (p.Thr1211Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633115] |
Chr2:29220719 [GRCh38]
Chr2:29443585 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1154+15A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633134] |
Chr2:29531900 [GRCh38]
Chr2:29754766 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4757A>G (p.Tyr1586Cys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633144] |
Chr2:29193330 [GRCh38]
Chr2:29416196 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.788-6T>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634529] |
Chr2:29695020 [GRCh38]
Chr2:29917886 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3887T>C (p.Met1296Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634314] |
Chr2:29207222 [GRCh38]
Chr2:29430088 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1415-12C>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634344] |
Chr2:29320894 [GRCh38]
Chr2:29543760 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1647+11T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634386] |
Chr2:29318293 [GRCh38]
Chr2:29541159 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3352C>T (p.Leu1118Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003817037] |
Chr2:29223349 [GRCh38]
Chr2:29446215 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3645+15G>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633212] |
Chr2:29220691 [GRCh38]
Chr2:29443557 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4622T>A (p.Val1541Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633242] |
Chr2:29193465 [GRCh38]
Chr2:29416331 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3863G>A (p.Cys1288Tyr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634574] |
Chr2:29207246 [GRCh38]
Chr2:29430112 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2302G>C (p.Asp768His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634628] |
Chr2:29239733 [GRCh38]
Chr2:29462599 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.262C>T (p.Arg88Cys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003855857] |
Chr2:29920398 [GRCh38]
Chr2:30143264 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.3027C>A (p.Asp1009Glu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634704] |
Chr2:29226962 [GRCh38]
Chr2:29449828 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4479C>A (p.His1493Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633311] |
Chr2:29193608 [GRCh38]
Chr2:29416474 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1702C>T (p.Leu568=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634735] |
Chr2:29297003 [GRCh38]
Chr2:29519869 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3316A>C (p.Ser1106Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003856300] |
Chr2:29223385 [GRCh38]
Chr2:29446251 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3151G>T (p.Ala1051Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003834797] |
Chr2:29225482 [GRCh38]
Chr2:29448348 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4664T>C (p.Leu1555Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633471] |
Chr2:29193423 [GRCh38]
Chr2:29416289 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4568C>T (p.Ala1523Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635074] |
Chr2:29193519 [GRCh38]
Chr2:29416385 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2820C>T (p.Gly940=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635107] |
Chr2:29227668 [GRCh38]
Chr2:29450534 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2392A>T (p.Asn798Tyr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633456] |
Chr2:29233660 [GRCh38]
Chr2:29456526 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1307C>G (p.Ala436Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634808] |
Chr2:29328457 [GRCh38]
Chr2:29551323 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3387G>T (p.Glu1129Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634827] |
Chr2:29222580 [GRCh38]
Chr2:29445446 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2028C>A (p.Ile676=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633012] |
Chr2:29275112 [GRCh38]
Chr2:29497978 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4381A>T (p.Ile1461Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634250] |
Chr2:29193706 [GRCh38]
Chr2:29416572 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4342T>C (p.Ser1448Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634864] |
Chr2:29193745 [GRCh38]
Chr2:29416611 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2653G>T (p.Asp885Tyr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633050] |
Chr2:29229046 [GRCh38]
Chr2:29451912 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2046T>C (p.His682=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634280] |
Chr2:29251263 [GRCh38]
Chr2:29474129 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.216G>A (p.Leu72=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635337] |
Chr2:29920444 [GRCh38]
Chr2:30143310 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3258G>T (p.Ser1086=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635338] |
Chr2:29223443 [GRCh38]
Chr2:29446309 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2211G>C (p.Ser737=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633137] |
Chr2:29239824 [GRCh38]
Chr2:29462690 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3748A>G (p.Ile1250Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634403] |
Chr2:29209874 [GRCh38]
Chr2:29432740 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1546+6A>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634505] |
Chr2:29320745 [GRCh38]
Chr2:29543611 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2042-15C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634519] |
Chr2:29251282 [GRCh38]
Chr2:29474148 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.788G>C (p.Gly263Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635369] |
Chr2:29695014 [GRCh38]
Chr2:29917880 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.495G>T (p.Leu165=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635379] |
Chr2:29920165 [GRCh38]
Chr2:30143031 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4589G>C (p.Arg1530Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635386] |
Chr2:29193498 [GRCh38]
Chr2:29416364 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.112C>T (p.Leu38=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518741] |
Chr2:29920548 [GRCh38]
Chr2:30143414 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3414G>A (p.Met1138Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518743] |
Chr2:29222553 [GRCh38]
Chr2:29445419 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.270G>A (p.Ser90=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633857] |
Chr2:29920390 [GRCh38]
Chr2:30143256 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3466T>G (p.Cys1156Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635225] |
Chr2:29222393 [GRCh38]
Chr2:29445259 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4751A>C (p.Tyr1584Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633228] |
Chr2:29193336 [GRCh38]
Chr2:29416202 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.371C>T (p.Ser124Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633267] |
Chr2:29920289 [GRCh38]
Chr2:30143155 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.696C>A (p.Asn232Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003854295] |
Chr2:29717669 [GRCh38]
Chr2:29940535 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4851G>T (p.Gln1617His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003518797] |
Chr2:29193236 [GRCh38]
Chr2:29416102 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3064A>G (p.Ile1022Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635249] |
Chr2:29226925 [GRCh38]
Chr2:29449791 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4708C>T (p.Pro1570Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634663] |
Chr2:29193379 [GRCh38]
Chr2:29416245 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1282+12T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634016] |
Chr2:29383720 [GRCh38]
Chr2:29606586 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2992G>A (p.Asp998Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634029] |
Chr2:29226997 [GRCh38]
Chr2:29449863 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2694G>C (p.Glu898Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634042] |
Chr2:29229005 [GRCh38]
Chr2:29451871 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3939-7T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634079] |
Chr2:29197683 [GRCh38]
Chr2:29420549 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2866G>T (p.Val956Phe) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003813841] |
Chr2:29227622 [GRCh38]
Chr2:29450488 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1647+8T>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633364] |
Chr2:29318296 [GRCh38]
Chr2:29541162 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1056C>G (p.His352Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634647] |
Chr2:29532013 [GRCh38]
Chr2:29754879 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.545A>G (p.Glu182Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634751] |
Chr2:29920115 [GRCh38]
Chr2:30142981 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1133T>G (p.Met378Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634109] |
Chr2:29531936 [GRCh38]
Chr2:29754802 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.712C>T (p.Pro238Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633970] |
Chr2:29717653 [GRCh38]
Chr2:29940519 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2722dup (p.Gln908fs) |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV003634146] |
Chr2:29228976..29228977 [GRCh38]
Chr2:29451842..29451843 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3499G>A (p.Glu1167Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633934] |
Chr2:29222360 [GRCh38]
Chr2:29445226 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1837G>C (p.Ala613Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634755] |
Chr2:29275477 [GRCh38]
Chr2:29498343 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1154+17G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633469] |
Chr2:29531898 [GRCh38]
Chr2:29754764 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.120C>G (p.Pro40=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634850] |
Chr2:29920540 [GRCh38]
Chr2:30143406 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3791G>T (p.Arg1264Ile) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003815857] |
Chr2:29209831 [GRCh38]
Chr2:29432697 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3743+11G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633002] |
Chr2:29213973 [GRCh38]
Chr2:29436839 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.654G>C (p.Gln218His) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633046] |
Chr2:29920006 [GRCh38]
Chr2:30142872 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.369G>C (p.Leu123=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634242] |
Chr2:29920291 [GRCh38]
Chr2:30143157 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.517C>T (p.Leu173=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634243] |
Chr2:29920143 [GRCh38]
Chr2:30143009 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3743+16T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634252] |
Chr2:29213968 [GRCh38]
Chr2:29436834 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3837-11C>G |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634315] |
Chr2:29207283 [GRCh38]
Chr2:29430149 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.864G>C (p.Trp288Cys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003816064] |
Chr2:29694938 [GRCh38]
Chr2:29917804 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.339T>G (p.Gly113=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635396] |
Chr2:29920321 [GRCh38]
Chr2:30143187 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.3837-16C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634378] |
Chr2:29207288 [GRCh38]
Chr2:29430154 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4073T>C (p.Val1358Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634393] |
Chr2:29197542 [GRCh38]
Chr2:29420408 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1840T>G (p.Trp614Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633788] |
Chr2:29275474 [GRCh38]
Chr2:29498340 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2420T>C (p.Val807Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633794] |
Chr2:29233632 [GRCh38]
Chr2:29456498 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3450+19_3450+20del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV003633800] |
Chr2:29222497..29222498 [GRCh38]
Chr2:29445363..29445364 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3205A>G (p.Met1069Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633774] |
Chr2:29223496 [GRCh38]
Chr2:29446362 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3067+16C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633865] |
Chr2:29226906 [GRCh38]
Chr2:29449772 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3836+10G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635152] |
Chr2:29209776 [GRCh38]
Chr2:29432642 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2897del (p.Tyr966fs) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV003635170] |
Chr2:29227591 [GRCh38]
Chr2:29450457 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1996C>G (p.Pro666Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635176] |
Chr2:29275144 [GRCh38]
Chr2:29498010 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2990T>C (p.Met997Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003837456] |
Chr2:29226999 [GRCh38]
Chr2:29449865 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2355T>G (p.Ser785Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003816221] |
Chr2:29239680 [GRCh38]
Chr2:29462546 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4840A>T (p.Ser1614Cys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634267] |
Chr2:29193247 [GRCh38]
Chr2:29416113 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1282+19C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633914] |
Chr2:29383713 [GRCh38]
Chr2:29606579 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1323_1325del (p.Thr442del) |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV003635214] |
Chr2:29328439..29328441 [GRCh38]
Chr2:29551305..29551307 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4726C>G (p.His1576Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635265] |
Chr2:29193361 [GRCh38]
Chr2:29416227 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.143G>T (p.Arg48Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633227] |
Chr2:29920517 [GRCh38]
Chr2:30143383 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1676T>A (p.Val559Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633283] |
Chr2:29297029 [GRCh38]
Chr2:29519895 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4025T>A (p.Val1342Asp) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635084] |
Chr2:29197590 [GRCh38]
Chr2:29420456 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.276T>C (p.Ala92=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635162] |
Chr2:29920384 [GRCh38]
Chr2:30143250 [GRCh37]
Chr2:2p23.1 |
likely benign |
| NM_004304.5(ALK):c.4146G>C (p.Arg1382Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003635312] |
Chr2:29196788 [GRCh38]
Chr2:29419654 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1969G>C (p.Glu657Gln) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633309] |
Chr2:29275171 [GRCh38]
Chr2:29498037 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.47C>G (p.Thr16Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634662] |
Chr2:29920613 [GRCh38]
Chr2:30143479 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1736G>A (p.Arg579Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003633409] |
Chr2:29296969 [GRCh38]
Chr2:29519835 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2099dup (p.Cys701fs) |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV003634682] |
Chr2:29251209..29251210 [GRCh38]
Chr2:29474075..29474076 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1610C>T (p.Ala537Val) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634687] |
Chr2:29318341 [GRCh38]
Chr2:29541207 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3359+16_3359+27del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV003634757] |
Chr2:29223315..29223326 [GRCh38]
Chr2:29446181..29446192 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3330G>A (p.Glu1110=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634082] |
Chr2:29223371 [GRCh38]
Chr2:29446237 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.175G>A (p.Val59Met) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003634159] |
Chr2:29920485 [GRCh38]
Chr2:30143351 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1284A>T (p.Gly428=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003818998] |
Chr2:29328480 [GRCh38]
Chr2:29551346 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1547-1G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003822176] |
Chr2:29318405 [GRCh38]
Chr2:29541271 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.722T>C (p.Phe241Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003864161] |
Chr2:29717643 [GRCh38]
Chr2:29940509 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.609G>C (p.Arg203Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003843906] |
Chr2:29920051 [GRCh38]
Chr2:30142917 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2157C>T (p.Pro719=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003858405] |
Chr2:29251152 [GRCh38]
Chr2:29474018 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2965C>A (p.His989Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003864614] |
Chr2:29227024 [GRCh38]
Chr2:29449890 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1248A>C (p.Ala416=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003872485] |
Chr2:29383766 [GRCh38]
Chr2:29606632 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4258G>A (p.Gly1420Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003859463] |
Chr2:29193829 [GRCh38]
Chr2:29416695 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.953-17T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003820726] |
Chr2:29532133 [GRCh38]
Chr2:29754999 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2889C>A (p.Gly963=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003861310] |
Chr2:29227599 [GRCh38]
Chr2:29450465 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1312C>A (p.Gln438Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003868876] |
Chr2:29328452 [GRCh38]
Chr2:29551318 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.596G>C (p.Gly199Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003843441] |
Chr2:29920064 [GRCh38]
Chr2:30142930 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.2542G>A (p.Ala848Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003866989] |
Chr2:29232394 [GRCh38]
Chr2:29455260 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.701C>G (p.Pro234Arg) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003871856] |
Chr2:29717664 [GRCh38]
Chr2:29940530 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.788-3C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003844234] |
Chr2:29695017 [GRCh38]
Chr2:29917883 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4561C>A (p.Pro1521Thr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003869938] |
Chr2:29193526 [GRCh38]
Chr2:29416392 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| GRCh37/hg19 2p23.2-23.1(chr2:28244046-30256324)x3 |
copy number gain |
not specified [RCV003986371] |
Chr2:28244046..30256324 [GRCh37]
Chr2:2p23.2-23.1 |
uncertain significance |
| NM_004304.5(ALK):c.4607A>G (p.Glu1536Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003870386] |
Chr2:29193480 [GRCh38]
Chr2:29416346 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2463G>T (p.Gly821=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003860898] |
Chr2:29233589 [GRCh38]
Chr2:29456455 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1747C>A (p.His583Asn) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003868472] |
Chr2:29296958 [GRCh38]
Chr2:29519824 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1117A>G (p.Arg373Gly) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003846827] |
Chr2:29531952 [GRCh38]
Chr2:29754818 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.3172+18dup |
duplication |
Neuroblastoma, susceptibility to, 3 [RCV003843636] |
Chr2:29225442..29225443 [GRCh38]
Chr2:29448308..29448309 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2009C>T (p.Ser670Leu) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003868793] |
Chr2:29275131 [GRCh38]
Chr2:29497997 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1907T>C (p.Leu636Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003869940] |
Chr2:29275407 [GRCh38]
Chr2:29498273 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4186G>T (p.Ala1396Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003869984] |
Chr2:29193901 [GRCh38]
Chr2:29416767 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.518T>C (p.Leu173Pro) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003842345] |
Chr2:29920142 [GRCh38]
Chr2:30143008 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1818-14C>T |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003853826] |
Chr2:29275510 [GRCh38]
Chr2:29498376 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3516-16C>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003867721] |
Chr2:29220851 [GRCh38]
Chr2:29443717 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4119G>T (p.Arg1373Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003859293] |
Chr2:29196815 [GRCh38]
Chr2:29419681 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.1137C>T (p.Pro379=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003847797] |
Chr2:29531932 [GRCh38]
Chr2:29754798 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.2488-19G>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003860801] |
Chr2:29232467 [GRCh38]
Chr2:29455333 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1494T>C (p.Thr498=) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003841932] |
Chr2:29320803 [GRCh38]
Chr2:29543669 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4074-8T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003846696] |
Chr2:29196868 [GRCh38]
Chr2:29419734 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1647+20T>C |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003818589] |
Chr2:29318284 [GRCh38]
Chr2:29541150 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.1154+20C>A |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003857352] |
Chr2:29531895 [GRCh38]
Chr2:29754761 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4339A>G (p.Thr1447Ala) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003824345] |
Chr2:29193748 [GRCh38]
Chr2:29416614 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.4741A>T (p.Asn1581Tyr) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003861320] |
Chr2:29193346 [GRCh38]
Chr2:29416212 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.253C>T (p.Pro85Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003858536] |
Chr2:29920407 [GRCh38]
Chr2:30143273 [GRCh37]
Chr2:2p23.1 |
uncertain significance |
| NM_004304.5(ALK):c.1154+15del |
deletion |
Neuroblastoma, susceptibility to, 3 [RCV003821253] |
Chr2:29531900 [GRCh38]
Chr2:29754766 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.4285C>A (p.Gln1429Lys) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003820115] |
Chr2:29193802 [GRCh38]
Chr2:29416668 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2687T>C (p.Leu896Ser) |
single nucleotide variant |
Neuroblastoma, susceptibility to, 3 [RCV003857536] |
Chr2:29229012 [GRCh38]
Chr2:29451878 [GRCh37]
Chr2:2p23.2 |
uncertain significance |
| NM_004304.5(ALK):c.2859A>G (p.Glu953=) |
single nucleotide variant |
ALK-related condition [RCV003954903] |
Chr2:29227629 [GRCh38]
Chr2:29450495 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.3067+514C>A |
single nucleotide variant |
not provided [RCV003886820] |
Chr2:29226408 [GRCh38]
Chr2:29449274 [GRCh37]
Chr2:2p23.2 |
benign |
| NM_004304.5(ALK):c.3957A>C (p.Leu1319=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003360685] |
Chr2:29197658 [GRCh38]
Chr2:29420524 [GRCh37]
Chr2:2p23.2 |
likely benign |
| NM_004304.5(ALK):c.537C>T (p.Arg179=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003360675] |
Chr2:29920123 [GRCh38]
Chr2:30142989 [GRCh37]
Chr2:2p23.1 |
likely benign |
