GRCh38/hg38 14q11.2-12(chr14:20151149-27723796)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051484]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051484]|See cases [RCV000051484] |
Chr14:20151149..27723796 [GRCh38] Chr14:20619308..28193002 [GRCh37] Chr14:19689148..27262842 [NCBI36] Chr14:14q11.2-12 |
pathogenic |
GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1 |
copy number loss |
See cases [RCV000051485] |
Chr14:20196945..45284802 [GRCh38] Chr14:20665104..45754005 [GRCh37] Chr14:19734944..44823755 [NCBI36] Chr14:14q11.2-21.2 |
pathogenic |
GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1 |
copy number loss |
See cases [RCV000051490] |
Chr14:23548960..41983402 [GRCh38] Chr14:24018169..42452605 [GRCh37] Chr14:23088009..41522355 [NCBI36] Chr14:14q11.2-21.1 |
pathogenic |
GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3 |
copy number gain |
See cases [RCV000053803] |
Chr14:20000611..38984415 [GRCh38] Chr14:20468770..39453619 [GRCh37] Chr14:19538610..38523370 [NCBI36] Chr14:14q11.2-21.1 |
pathogenic |
GRCh38/hg38 14q11.2-21.1(chr14:20150949-39746154)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|See cases [RCV000053806] |
Chr14:20150949..39746154 [GRCh38] Chr14:20619108..40215358 [GRCh37] Chr14:19688948..39285109 [NCBI36] Chr14:14q11.2-21.1 |
pathogenic |
NM_025081.2(NYNRIN):c.1672C>T (p.Pro558Ser) |
single nucleotide variant |
Malignant melanoma [RCV000070517] |
Chr14:24409466 [GRCh38] Chr14:24878672 [GRCh37] Chr14:23948512 [NCBI36] Chr14:14q12 |
not provided |
NM_025081.3(NYNRIN):c.2269C>T (p.Arg757Cys) |
single nucleotide variant |
not provided [RCV005107651]|not specified [RCV004835709] |
Chr14:24410063 [GRCh38] Chr14:24879269 [GRCh37] Chr14:23949109 [NCBI36] Chr14:14q12 |
uncertain significance|not provided |
NM_025081.2(NYNRIN):c.4269C>T (p.Ser1423=) |
single nucleotide variant |
Malignant melanoma [RCV000070519] |
Chr14:24416018 [GRCh38] Chr14:24885224 [GRCh37] Chr14:23955064 [NCBI36] Chr14:14q12 |
not provided |
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 |
copy number gain |
See cases [RCV000135543] |
Chr14:20151149..106855263 [GRCh38] Chr14:20619308..107263478 [GRCh37] Chr14:19689148..106334523 [NCBI36] Chr14:14q11.2-32.33 |
pathogenic |
GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3 |
copy number gain |
See cases [RCV000137725] |
Chr14:20412587..25018120 [GRCh38] Chr14:20880746..25487326 [GRCh37] Chr14:19950586..24557166 [NCBI36] Chr14:14q11.2-12 |
likely pathogenic |
GRCh38/hg38 14q11.2-12(chr14:23984065-25374494)x1 |
copy number loss |
See cases [RCV000142873] |
Chr14:23984065..25374494 [GRCh38] Chr14:24453274..25843700 [GRCh37] Chr14:23523114..24913540 [NCBI36] Chr14:14q11.2-12 |
pathogenic |
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 |
copy number gain |
See cases [RCV000143373] |
Chr14:20043514..106877229 [GRCh38] Chr14:20511673..107285437 [GRCh37] Chr14:19581513..106356482 [NCBI36] Chr14:14q11.2-32.33 |
pathogenic |
GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3 |
copy number gain |
See cases [RCV000143186] |
Chr14:20022693..44093672 [GRCh38] Chr14:20490852..44562875 [GRCh37] Chr14:19560692..43632625 [NCBI36] Chr14:14q11.2-21.2 |
pathogenic |
GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3 |
copy number gain |
See cases [RCV000143748] |
Chr14:20043513..48642042 [GRCh38] Chr14:20511672..49111245 [GRCh37] Chr14:19581512..48180995 [NCBI36] Chr14:14q11.2-21.3 |
pathogenic |
GRCh37/hg19 14q11.2-12(chr14:19100682-28730087) |
copy number gain |
not provided [RCV000767822] |
Chr14:19100682..28730087 [GRCh37] Chr14:14q11.2-12 |
pathogenic |
GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3 |
copy number gain |
See cases [RCV000240285] |
Chr14:19794561..27768254 [GRCh37] Chr14:14q11.2-12 |
pathogenic |
GRCh37/hg19 14q11.2-22.2(chr14:23164384-54733411)x3 |
copy number gain |
See cases [RCV000447658] |
Chr14:23164384..54733411 [GRCh37] Chr14:14q11.2-22.2 |
pathogenic |
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 |
copy number gain |
See cases [RCV000446256] |
Chr14:19794561..107234280 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3 |
copy number gain |
See cases [RCV000448273] |
Chr14:19794561..34049214 [GRCh37] Chr14:14q11.2-13.1 |
pathogenic |
GRCh37/hg19 14q11.2-12(chr14:24233721-31377083)x1 |
copy number loss |
See cases [RCV000510673] |
Chr14:24233721..31377083 [GRCh37] Chr14:14q11.2-12 |
pathogenic |
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) |
copy number gain |
See cases [RCV000512041] |
Chr14:20511673..107285437 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
NM_025081.3(NYNRIN):c.1484C>T (p.Pro495Leu) |
single nucleotide variant |
not provided [RCV005102608]|not specified [RCV004306792] |
Chr14:24409278 [GRCh38] Chr14:24878484 [GRCh37] Chr14:14q12 |
likely benign|uncertain significance |
NM_025081.3(NYNRIN):c.3956G>T (p.Arg1319Leu) |
single nucleotide variant |
not specified [RCV004333438] |
Chr14:24415705 [GRCh38] Chr14:24884911 [GRCh37] Chr14:14q12 |
uncertain significance |
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 |
copy number gain |
not provided [RCV000738412] |
Chr14:19000422..107289053 [GRCh37] Chr14:14q11.1-32.33 |
pathogenic |
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 |
copy number gain |
not provided [RCV000738413] |
Chr14:19280733..107287663 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 |
copy number gain |
not provided [RCV000738414] |
Chr14:19327823..107287663 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
NM_025081.3(NYNRIN):c.4718C>T (p.Pro1573Leu) |
single nucleotide variant |
NYNRIN-related disorder [RCV003900997]|not specified [RCV004291889] |
Chr14:24416467 [GRCh38] Chr14:24885673 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.1484C>G (p.Pro495Arg) |
single nucleotide variant |
not specified [RCV004294025] |
Chr14:24409278 [GRCh38] Chr14:24878484 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.5314C>T (p.Leu1772=) |
single nucleotide variant |
not provided [RCV000893796] |
Chr14:24417063 [GRCh38] Chr14:24886269 [GRCh37] Chr14:14q12 |
benign |
NM_025081.3(NYNRIN):c.5117G>A (p.Arg1706Gln) |
single nucleotide variant |
not provided [RCV005102609]|not specified [RCV004307011] |
Chr14:24416866 [GRCh38] Chr14:24886072 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.1921A>C (p.Lys641Gln) |
single nucleotide variant |
not provided [RCV000960063] |
Chr14:24409715 [GRCh38] Chr14:24878921 [GRCh37] Chr14:14q12 |
benign|likely benign |
NM_025081.3(NYNRIN):c.2161G>C (p.Gly721Arg) |
single nucleotide variant |
not provided [RCV000893795] |
Chr14:24409955 [GRCh38] Chr14:24879161 [GRCh37] Chr14:14q12 |
likely benign |
GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3 |
copy number gain |
not provided [RCV001249358] |
Chr14:20511672..42881888 [GRCh37] Chr14:14q11.2-21.1 |
not provided |
NM_025081.3(NYNRIN):c.125T>A (p.Phe42Tyr) |
single nucleotide variant |
Wilms tumor predisposition [RCV004785963] |
Chr14:24399371 [GRCh38] Chr14:24868577 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.4879A>G (p.Ile1627Val) |
single nucleotide variant |
not specified [RCV004296983] |
Chr14:24416628 [GRCh38] Chr14:24885834 [GRCh37] Chr14:14q12 |
likely benign |
NC_000014.8:g.(?_23242819)_(25103366_?)dup |
duplication |
Lysinuric protein intolerance [RCV003105428]|Specific granule deficiency [RCV003105427] |
Chr14:23242819..25103366 [GRCh37] Chr14:14q11.2-12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3938C>T (p.Ser1313Leu) |
single nucleotide variant |
not specified [RCV004307301] |
Chr14:24415687 [GRCh38] Chr14:24884893 [GRCh37] Chr14:14q12 |
uncertain significance |
GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3 |
copy number gain |
not provided [RCV001006605] |
Chr14:20511672..44829030 [GRCh37] Chr14:14q11.2-21.2 |
pathogenic |
NM_025081.3(NYNRIN):c.2650G>A (p.Val884Ile) |
single nucleotide variant |
not specified [RCV002248063] |
Chr14:24413004 [GRCh38] Chr14:24882210 [GRCh37] Chr14:14q12 |
uncertain significance |
GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203) |
copy number gain |
Seizure [RCV002280625] |
Chr14:20511672..47481203 [GRCh37] Chr14:14q11.2-21.3 |
pathogenic |
NM_025081.3(NYNRIN):c.4906C>A (p.Leu1636Ile) |
single nucleotide variant |
not specified [RCV004287582] |
Chr14:24416655 [GRCh38] Chr14:24885861 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.5493G>C (p.Gln1831His) |
single nucleotide variant |
Hepatoblastoma [RCV001843907] |
Chr14:24417242 [GRCh38] Chr14:24886448 [GRCh37] Chr14:14q12 |
uncertain significance |
NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del |
deletion |
Brain-lung-thyroid syndrome [RCV002221171] |
Chr14:36986276..36987308 [GRCh37] Chr14:14q11.2-21.3 |
pathogenic |
NM_025081.3(NYNRIN):c.4014del (p.Val1339fs) |
deletion |
Wilms tumor predisposition [RCV004785962]|not provided [RCV005105071] |
Chr14:24415763 [GRCh38] Chr14:24884969 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.551C>T (p.Ala184Val) |
single nucleotide variant |
Wilms tumor predisposition [RCV004785964] |
Chr14:24408221 [GRCh38] Chr14:24877427 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.5600C>G (p.Pro1867Arg) |
single nucleotide variant |
not specified [RCV002248064] |
Chr14:24417349 [GRCh38] Chr14:24886555 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.5306C>T (p.Thr1769Met) |
single nucleotide variant |
Predisposition to Wilms tumor [RCV005055211]|not provided [RCV005099498]|not specified [RCV004083061] |
Chr14:24417055 [GRCh38] Chr14:24886261 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.4468G>A (p.Asp1490Asn) |
single nucleotide variant |
not specified [RCV004206985] |
Chr14:24416217 [GRCh38] Chr14:24885423 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3471G>C (p.Gln1157His) |
single nucleotide variant |
not provided [RCV005099542]|not specified [RCV004089028] |
Chr14:24415220 [GRCh38] Chr14:24884426 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.4427C>T (p.Pro1476Leu) |
single nucleotide variant |
not provided [RCV003546879]|not specified [RCV004106282] |
Chr14:24416176 [GRCh38] Chr14:24885382 [GRCh37] Chr14:14q12 |
likely benign|uncertain significance |
NM_025081.3(NYNRIN):c.4699C>T (p.Arg1567Cys) |
single nucleotide variant |
not specified [RCV004127876] |
Chr14:24416448 [GRCh38] Chr14:24885654 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.5486G>C (p.Gly1829Ala) |
single nucleotide variant |
not specified [RCV004166932] |
Chr14:24417235 [GRCh38] Chr14:24886441 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.671C>T (p.Pro224Leu) |
single nucleotide variant |
not specified [RCV004245596] |
Chr14:24408341 [GRCh38] Chr14:24877547 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.932A>G (p.Asp311Gly) |
single nucleotide variant |
not specified [RCV004111517] |
Chr14:24408726 [GRCh38] Chr14:24877932 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.343C>G (p.Pro115Ala) |
single nucleotide variant |
not specified [RCV004144838] |
Chr14:24408013 [GRCh38] Chr14:24877219 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3869C>T (p.Ser1290Phe) |
single nucleotide variant |
not specified [RCV004146849] |
Chr14:24415618 [GRCh38] Chr14:24884824 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.4610C>G (p.Pro1537Arg) |
single nucleotide variant |
not specified [RCV004146812] |
Chr14:24416359 [GRCh38] Chr14:24885565 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.1495G>A (p.Gly499Arg) |
single nucleotide variant |
not specified [RCV004216282] |
Chr14:24409289 [GRCh38] Chr14:24878495 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.5152G>T (p.Ala1718Ser) |
single nucleotide variant |
not specified [RCV004145582] |
Chr14:24416901 [GRCh38] Chr14:24886107 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2911G>A (p.Val971Ile) |
single nucleotide variant |
not specified [RCV004102172] |
Chr14:24414660 [GRCh38] Chr14:24883866 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.4187G>T (p.Gly1396Val) |
single nucleotide variant |
not specified [RCV004120289] |
Chr14:24415936 [GRCh38] Chr14:24885142 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.629G>C (p.Gly210Ala) |
single nucleotide variant |
not specified [RCV004137989] |
Chr14:24408299 [GRCh38] Chr14:24877505 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2263C>A (p.Pro755Thr) |
single nucleotide variant |
not specified [RCV004134898] |
Chr14:24410057 [GRCh38] Chr14:24879263 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.4871C>T (p.Pro1624Leu) |
single nucleotide variant |
not provided [RCV005099123]|not specified [RCV004230146] |
Chr14:24416620 [GRCh38] Chr14:24885826 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2041C>T (p.Pro681Ser) |
single nucleotide variant |
not provided [RCV005099487]|not specified [RCV004082570] |
Chr14:24409835 [GRCh38] Chr14:24879041 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3710G>A (p.Arg1237Gln) |
single nucleotide variant |
not specified [RCV004209173] |
Chr14:24415459 [GRCh38] Chr14:24884665 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.148T>C (p.Tyr50His) |
single nucleotide variant |
not specified [RCV004153716] |
Chr14:24399394 [GRCh38] Chr14:24868600 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.953C>A (p.Ala318Asp) |
single nucleotide variant |
not provided [RCV005099026]|not specified [RCV004212553] |
Chr14:24408747 [GRCh38] Chr14:24877953 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3481C>T (p.Arg1161Cys) |
single nucleotide variant |
not provided [RCV005099527]|not specified [RCV004090318] |
Chr14:24415230 [GRCh38] Chr14:24884436 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.5356A>G (p.Met1786Val) |
single nucleotide variant |
not provided [RCV005099007]|not specified [RCV004202373] |
Chr14:24417105 [GRCh38] Chr14:24886311 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.475G>T (p.Val159Leu) |
single nucleotide variant |
not specified [RCV004205429] |
Chr14:24408145 [GRCh38] Chr14:24877351 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.1552A>G (p.Thr518Ala) |
single nucleotide variant |
not provided [RCV005059429]|not specified [RCV004232598] |
Chr14:24409346 [GRCh38] Chr14:24878552 [GRCh37] Chr14:14q12 |
likely benign|uncertain significance |
NM_025081.3(NYNRIN):c.4184G>A (p.Arg1395Gln) |
single nucleotide variant |
not specified [RCV004207391] |
Chr14:24415933 [GRCh38] Chr14:24885139 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3691G>C (p.Asp1231His) |
single nucleotide variant |
not specified [RCV004179965] |
Chr14:24415440 [GRCh38] Chr14:24884646 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3178G>T (p.Ala1060Ser) |
single nucleotide variant |
not specified [RCV004126976] |
Chr14:24414927 [GRCh38] Chr14:24884133 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.1916G>C (p.Gly639Ala) |
single nucleotide variant |
NYNRIN-related disorder [RCV003973730]|not provided [RCV005099471]|not specified [RCV004075193] |
Chr14:24409710 [GRCh38] Chr14:24878916 [GRCh37] Chr14:14q12 |
likely benign|uncertain significance |
NM_025081.3(NYNRIN):c.1965A>T (p.Lys655Asn) |
single nucleotide variant |
not specified [RCV004076334] |
Chr14:24409759 [GRCh38] Chr14:24878965 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.5413G>A (p.Ala1805Thr) |
single nucleotide variant |
not specified [RCV004152621] |
Chr14:24417162 [GRCh38] Chr14:24886368 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.4695G>T (p.Lys1565Asn) |
single nucleotide variant |
not specified [RCV004221461] |
Chr14:24416444 [GRCh38] Chr14:24885650 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3614G>T (p.Gly1205Val) |
single nucleotide variant |
not specified [RCV004221336] |
Chr14:24415363 [GRCh38] Chr14:24884569 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3734G>A (p.Arg1245Gln) |
single nucleotide variant |
not provided [RCV005059417]|not specified [RCV004221826] |
Chr14:24415483 [GRCh38] Chr14:24884689 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.1288C>A (p.Pro430Thr) |
single nucleotide variant |
not specified [RCV004083917] |
Chr14:24409082 [GRCh38] Chr14:24878288 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.1306G>C (p.Gly436Arg) |
single nucleotide variant |
not specified [RCV004269029] |
Chr14:24409100 [GRCh38] Chr14:24878306 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2378G>A (p.Arg793Gln) |
single nucleotide variant |
not specified [RCV004268044] |
Chr14:24410172 [GRCh38] Chr14:24879378 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.4822C>T (p.Leu1608Phe) |
single nucleotide variant |
not specified [RCV004279360] |
Chr14:24416571 [GRCh38] Chr14:24885777 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.1519G>A (p.Gly507Arg) |
single nucleotide variant |
not provided [RCV005101200]|not specified [RCV004248227] |
Chr14:24409313 [GRCh38] Chr14:24878519 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3956G>A (p.Arg1319His) |
single nucleotide variant |
not specified [RCV004273577] |
Chr14:24415705 [GRCh38] Chr14:24884911 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.5455C>T (p.Arg1819Trp) |
single nucleotide variant |
not specified [RCV004261181] |
Chr14:24417204 [GRCh38] Chr14:24886410 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.5078G>C (p.Cys1693Ser) |
single nucleotide variant |
not specified [RCV004271909] |
Chr14:24416827 [GRCh38] Chr14:24886033 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2941G>A (p.Gly981Arg) |
single nucleotide variant |
not specified [RCV004274572] |
Chr14:24414690 [GRCh38] Chr14:24883896 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.1471G>C (p.Ala491Pro) |
single nucleotide variant |
not specified [RCV004283324] |
Chr14:24409265 [GRCh38] Chr14:24878471 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3748G>A (p.Val1250Ile) |
single nucleotide variant |
not specified [RCV004258662] |
Chr14:24415497 [GRCh38] Chr14:24884703 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2060C>T (p.Pro687Leu) |
single nucleotide variant |
not provided [RCV005101337]|not specified [RCV004277941] |
Chr14:24409854 [GRCh38] Chr14:24879060 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.4076C>T (p.Ala1359Val) |
single nucleotide variant |
not specified [RCV004278160] |
Chr14:24415825 [GRCh38] Chr14:24885031 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3322A>C (p.Ile1108Leu) |
single nucleotide variant |
not specified [RCV004265155] |
Chr14:24415071 [GRCh38] Chr14:24884277 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.623G>A (p.Arg208His) |
single nucleotide variant |
not specified [RCV004299881] |
Chr14:24408293 [GRCh38] Chr14:24877499 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.4240A>G (p.Ile1414Val) |
single nucleotide variant |
not specified [RCV004313203] |
Chr14:24415989 [GRCh38] Chr14:24885195 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2944C>A (p.Pro982Thr) |
single nucleotide variant |
not provided [RCV003424998] |
Chr14:24414693 [GRCh38] Chr14:24883899 [GRCh37] Chr14:14q12 |
benign|likely benign |
NM_025081.3(NYNRIN):c.2359C>A (p.Pro787Thr) |
single nucleotide variant |
Predisposition to Wilms tumor [RCV005055217]|not specified [RCV004343301] |
Chr14:24410153 [GRCh38] Chr14:24879359 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2909G>A (p.Ser970Asn) |
single nucleotide variant |
not specified [RCV004363635] |
Chr14:24414658 [GRCh38] Chr14:24883864 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.203A>G (p.Tyr68Cys) |
single nucleotide variant |
not specified [RCV004351151] |
Chr14:24407873 [GRCh38] Chr14:24877079 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.916G>A (p.Ala306Thr) |
single nucleotide variant |
not specified [RCV004349293] |
Chr14:24408710 [GRCh38] Chr14:24877916 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.1258_1259delinsAT (p.Glu420Met) |
indel |
NYNRIN-related disorder [RCV003418997]|not provided [RCV005099955] |
Chr14:24409052..24409053 [GRCh38] Chr14:24878258..24878259 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.1388C>T (p.Pro463Leu) |
single nucleotide variant |
not specified [RCV004351434] |
Chr14:24409182 [GRCh38] Chr14:24878388 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.4286G>A (p.Arg1429Gln) |
single nucleotide variant |
not provided [RCV005061332]|not specified [RCV004357592] |
Chr14:24416035 [GRCh38] Chr14:24885241 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.969G>C (p.Arg323Ser) |
single nucleotide variant |
not specified [RCV004334625] |
Chr14:24408763 [GRCh38] Chr14:24877969 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3542G>A (p.Gly1181Glu) |
single nucleotide variant |
not specified [RCV004361321] |
Chr14:24415291 [GRCh38] Chr14:24884497 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.5101G>T (p.Val1701Leu) |
single nucleotide variant |
not specified [RCV004343440] |
Chr14:24416850 [GRCh38] Chr14:24886056 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3848G>A (p.Arg1283His) |
single nucleotide variant |
not specified [RCV004341875] |
Chr14:24415597 [GRCh38] Chr14:24884803 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.4571T>C (p.Met1524Thr) |
single nucleotide variant |
not specified [RCV004353490] |
Chr14:24416320 [GRCh38] Chr14:24885526 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2643G>A (p.Arg881=) |
single nucleotide variant |
not specified [RCV004352102] |
Chr14:24412997 [GRCh38] Chr14:24882203 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.3009G>T (p.Glu1003Asp) |
single nucleotide variant |
not provided [RCV003570898] |
Chr14:24414758 [GRCh38] Chr14:24883964 [GRCh37] Chr14:14q12 |
likely benign |
GRCh37/hg19 14q11.2-12(chr14:24445622-28262222)x1 |
copy number loss |
not provided [RCV003483196] |
Chr14:24445622..28262222 [GRCh37] Chr14:14q11.2-12 |
likely pathogenic |
NM_025081.3(NYNRIN):c.3831C>T (p.Gly1277=) |
single nucleotide variant |
not provided [RCV003543035] |
Chr14:24415580 [GRCh38] Chr14:24884786 [GRCh37] Chr14:14q12 |
likely benign |
GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3 |
copy number gain |
not provided [RCV003485022] |
Chr14:20511673..61826023 [GRCh37] Chr14:14q11.2-23.1 |
pathogenic |
NM_025081.3(NYNRIN):c.2333C>T (p.Pro778Leu) |
single nucleotide variant |
NYNRIN-related disorder [RCV003399678] |
Chr14:24410127 [GRCh38] Chr14:24879333 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3039G>A (p.Ala1013=) |
single nucleotide variant |
NYNRIN-related disorder [RCV003980886]|not provided [RCV003424999] |
Chr14:24414788 [GRCh38] Chr14:24883994 [GRCh37] Chr14:14q12 |
benign|likely benign |
NM_025081.3(NYNRIN):c.551C>A (p.Ala184Glu) |
single nucleotide variant |
NYNRIN-related disorder [RCV003418957] |
Chr14:24408221 [GRCh38] Chr14:24877427 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3317A>T (p.Asp1106Val) |
single nucleotide variant |
NYNRIN-related disorder [RCV003410382] |
Chr14:24415066 [GRCh38] Chr14:24884272 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3861C>T (p.Pro1287=) |
single nucleotide variant |
not provided [RCV003425000] |
Chr14:24415610 [GRCh38] Chr14:24884816 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.4610C>T (p.Pro1537Leu) |
single nucleotide variant |
not provided [RCV003579532] |
Chr14:24416359 [GRCh38] Chr14:24885565 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2233C>T (p.Leu745=) |
single nucleotide variant |
not provided [RCV003577613] |
Chr14:24410027 [GRCh38] Chr14:24879233 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.339C>T (p.Gly113=) |
single nucleotide variant |
not provided [RCV003696719] |
Chr14:24408009 [GRCh38] Chr14:24877215 [GRCh37] Chr14:14q12 |
benign |
NM_025081.3(NYNRIN):c.3158A>G (p.Asp1053Gly) |
single nucleotide variant |
not provided [RCV003579350] |
Chr14:24414907 [GRCh38] Chr14:24884113 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3720G>A (p.Ala1240=) |
single nucleotide variant |
not provided [RCV003573459] |
Chr14:24415469 [GRCh38] Chr14:24884675 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3878G>T (p.Arg1293Leu) |
single nucleotide variant |
not provided [RCV003848993] |
Chr14:24415627 [GRCh38] Chr14:24884833 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3119G>A (p.Arg1040Gln) |
single nucleotide variant |
not provided [RCV003573617]|not specified [RCV004369311] |
Chr14:24414868 [GRCh38] Chr14:24884074 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.1053C>T (p.Thr351=) |
single nucleotide variant |
not provided [RCV003547500] |
Chr14:24408847 [GRCh38] Chr14:24878053 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.823A>G (p.Ser275Gly) |
single nucleotide variant |
not provided [RCV003690759] |
Chr14:24408493 [GRCh38] Chr14:24877699 [GRCh37] Chr14:14q12 |
benign |
NM_025081.3(NYNRIN):c.4651A>G (p.Ile1551Val) |
single nucleotide variant |
not provided [RCV003690312] |
Chr14:24416400 [GRCh38] Chr14:24885606 [GRCh37] Chr14:14q12 |
benign |
NM_025081.3(NYNRIN):c.4101G>A (p.Gln1367=) |
single nucleotide variant |
not provided [RCV003547380] |
Chr14:24415850 [GRCh38] Chr14:24885056 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.4354G>C (p.Gly1452Arg) |
single nucleotide variant |
Predisposition to Wilms tumor [RCV005055225]|not provided [RCV003695649] |
Chr14:24416103 [GRCh38] Chr14:24885309 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.85C>T (p.Leu29=) |
single nucleotide variant |
not provided [RCV003547356] |
Chr14:24399331 [GRCh38] Chr14:24868537 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.3660C>T (p.Ser1220=) |
single nucleotide variant |
NYNRIN-related disorder [RCV004723425]|not provided [RCV003695773] |
Chr14:24415409 [GRCh38] Chr14:24884615 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.2247G>A (p.Glu749=) |
single nucleotide variant |
not provided [RCV003545387] |
Chr14:24410041 [GRCh38] Chr14:24879247 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.4564C>G (p.Leu1522Val) |
single nucleotide variant |
not provided [RCV003575373] |
Chr14:24416313 [GRCh38] Chr14:24885519 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2377C>T (p.Arg793Trp) |
single nucleotide variant |
not provided [RCV003577326] |
Chr14:24410171 [GRCh38] Chr14:24879377 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.4373T>C (p.Leu1458Ser) |
single nucleotide variant |
not provided [RCV003546089]|not specified [RCV004369087] |
Chr14:24416122 [GRCh38] Chr14:24885328 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.5151G>A (p.Gly1717=) |
single nucleotide variant |
not provided [RCV003663385] |
Chr14:24416900 [GRCh38] Chr14:24886106 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.285A>G (p.Gln95=) |
single nucleotide variant |
not provided [RCV003690311] |
Chr14:24407955 [GRCh38] Chr14:24877161 [GRCh37] Chr14:14q12 |
benign |
NM_025081.3(NYNRIN):c.3589G>A (p.Glu1197Lys) |
single nucleotide variant |
not provided [RCV003545102] |
Chr14:24415338 [GRCh38] Chr14:24884544 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3612_3613del (p.Gly1205_Gly1206insTer) |
deletion |
not provided [RCV003550248] |
Chr14:24415361..24415362 [GRCh38] Chr14:24884567..24884568 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.4675C>G (p.Pro1559Ala) |
single nucleotide variant |
Predisposition to Wilms tumor [RCV005055294]|not provided [RCV005105404] |
Chr14:24416424 [GRCh38] Chr14:24885630 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.1988C>T (p.Pro663Leu) |
single nucleotide variant |
Predisposition to Wilms tumor [RCV005055297]|not provided [RCV005105405] |
Chr14:24409782 [GRCh38] Chr14:24878988 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2414+12C>T |
single nucleotide variant |
not provided [RCV003549659] |
Chr14:24410220 [GRCh38] Chr14:24879426 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.1968A>G (p.Ala656=) |
single nucleotide variant |
not provided [RCV003549674] |
Chr14:24409762 [GRCh38] Chr14:24878968 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.1274C>T (p.Pro425Leu) |
single nucleotide variant |
NYNRIN-related disorder [RCV003901323]|not provided [RCV003725806]|not specified [RCV004837914] |
Chr14:24409068 [GRCh38] Chr14:24878274 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3051C>T (p.Asp1017=) |
single nucleotide variant |
not provided [RCV003561503] |
Chr14:24414800 [GRCh38] Chr14:24884006 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2932G>A (p.Ala978Thr) |
single nucleotide variant |
not provided [RCV003667422] |
Chr14:24414681 [GRCh38] Chr14:24883887 [GRCh37] Chr14:14q12 |
benign |
NM_025081.3(NYNRIN):c.2546-3C>T |
single nucleotide variant |
not provided [RCV003550281] |
Chr14:24411351 [GRCh38] Chr14:24880557 [GRCh37] Chr14:14q12 |
benign |
NM_025081.3(NYNRIN):c.2574G>A (p.Ser858=) |
single nucleotide variant |
not provided [RCV003724071] |
Chr14:24411382 [GRCh38] Chr14:24880588 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.1370C>T (p.Thr457Met) |
single nucleotide variant |
not provided [RCV003681905] |
Chr14:24409164 [GRCh38] Chr14:24878370 [GRCh37] Chr14:14q12 |
benign |
NM_025081.3(NYNRIN):c.2414+16C>T |
single nucleotide variant |
not provided [RCV003679605] |
Chr14:24410224 [GRCh38] Chr14:24879430 [GRCh37] Chr14:14q12 |
benign |
NM_025081.3(NYNRIN):c.1569C>T (p.Pro523=) |
single nucleotide variant |
not provided [RCV003703969] |
Chr14:24409363 [GRCh38] Chr14:24878569 [GRCh37] Chr14:14q12 |
benign |
NM_025081.3(NYNRIN):c.3864G>A (p.Ala1288=) |
single nucleotide variant |
not provided [RCV003677126] |
Chr14:24415613 [GRCh38] Chr14:24884819 [GRCh37] Chr14:14q12 |
benign |
NM_025081.3(NYNRIN):c.2148C>T (p.Gly716=) |
single nucleotide variant |
not provided [RCV003555870] |
Chr14:24409942 [GRCh38] Chr14:24879148 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.1485G>A (p.Pro495=) |
single nucleotide variant |
not provided [RCV003670606] |
Chr14:24409279 [GRCh38] Chr14:24878485 [GRCh37] Chr14:14q12 |
benign |
NM_025081.3(NYNRIN):c.199-5C>T |
single nucleotide variant |
not provided [RCV003550577] |
Chr14:24407864 [GRCh38] Chr14:24877070 [GRCh37] Chr14:14q12 |
benign |
NM_025081.3(NYNRIN):c.3495C>T (p.Thr1165=) |
single nucleotide variant |
not provided [RCV003737758] |
Chr14:24415244 [GRCh38] Chr14:24884450 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2729T>C (p.Leu910Pro) |
single nucleotide variant |
not provided [RCV003553129] |
Chr14:24413083 [GRCh38] Chr14:24882289 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.790C>T (p.Leu264=) |
single nucleotide variant |
not provided [RCV003553238] |
Chr14:24408460 [GRCh38] Chr14:24877666 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3712A>G (p.Thr1238Ala) |
single nucleotide variant |
not provided [RCV003678273] |
Chr14:24415461 [GRCh38] Chr14:24415461..24415462 [GRCh38] Chr14:24884667 [GRCh37] Chr14:24884667..24884668 [GRCh37] Chr14:14q12 |
benign |
NM_025081.3(NYNRIN):c.199-13C>T |
single nucleotide variant |
not provided [RCV003677214] |
Chr14:24407856 [GRCh38] Chr14:24877062 [GRCh37] Chr14:14q12 |
benign |
NM_025081.3(NYNRIN):c.3918G>A (p.Thr1306=) |
single nucleotide variant |
not provided [RCV003853244] |
Chr14:24415667 [GRCh38] Chr14:24884873 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.1958_1975dup (p.Ala658_Ala659insValSerLysAlaProAla) |
duplication |
not provided [RCV003555208] |
Chr14:24409748..24409749 [GRCh38] Chr14:24878954..24878955 [GRCh37] Chr14:14q12 |
benign |
NM_025081.3(NYNRIN):c.1399G>A (p.Asp467Asn) |
single nucleotide variant |
not provided [RCV003734779] |
Chr14:24409193 [GRCh38] Chr14:24878399 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.5065G>A (p.Val1689Ile) |
single nucleotide variant |
not provided [RCV003735646] |
Chr14:24416814 [GRCh38] Chr14:24886020 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.363C>T (p.Gly121=) |
single nucleotide variant |
not provided [RCV003552956] |
Chr14:24408033 [GRCh38] Chr14:24877239 [GRCh37] Chr14:14q12 |
benign |
NM_025081.3(NYNRIN):c.2744+8G>C |
single nucleotide variant |
not provided [RCV003670607] |
Chr14:24413106 [GRCh38] Chr14:24882312 [GRCh37] Chr14:14q12 |
benign |
NM_025081.3(NYNRIN):c.199-11A>G |
single nucleotide variant |
not provided [RCV003675590] |
Chr14:24407858 [GRCh38] Chr14:24877064 [GRCh37] Chr14:14q12 |
benign |
NM_025081.3(NYNRIN):c.2391C>T (p.Ile797=) |
single nucleotide variant |
not provided [RCV003677125] |
Chr14:24410185 [GRCh38] Chr14:24879391 [GRCh37] Chr14:14q12 |
benign |
NM_025081.3(NYNRIN):c.848A>G (p.Gln283Arg) |
single nucleotide variant |
not provided [RCV003556484] |
Chr14:24408518 [GRCh38] Chr14:24877724 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3411C>G (p.Ala1137=) |
single nucleotide variant |
NYNRIN-related disorder [RCV003966865] |
Chr14:24415160 [GRCh38] Chr14:24884366 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.1899A>G (p.Ala633=) |
single nucleotide variant |
NYNRIN-related disorder [RCV003957017] |
Chr14:24409693 [GRCh38] Chr14:24878899 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.5142G>A (p.Thr1714=) |
single nucleotide variant |
NYNRIN-related disorder [RCV003913889] |
Chr14:24416891 [GRCh38] Chr14:24886097 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.4590G>A (p.Lys1530=) |
single nucleotide variant |
NYNRIN-related disorder [RCV003946933]|not provided [RCV005101863] |
Chr14:24416339 [GRCh38] Chr14:24885545 [GRCh37] Chr14:14q12 |
benign|likely benign |
NM_025081.3(NYNRIN):c.4700G>A (p.Arg1567His) |
single nucleotide variant |
not specified [RCV004496431] |
Chr14:24416449 [GRCh38] Chr14:24885655 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.1673C>G (p.Pro558Arg) |
single nucleotide variant |
not specified [RCV004496413] |
Chr14:24409467 [GRCh38] Chr14:24878673 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2107G>C (p.Val703Leu) |
single nucleotide variant |
not specified [RCV004496417] |
Chr14:24409901 [GRCh38] Chr14:24879107 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2356G>A (p.Glu786Lys) |
single nucleotide variant |
not specified [RCV004496420] |
Chr14:24410150 [GRCh38] Chr14:24879356 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.244C>T (p.Arg82Cys) |
single nucleotide variant |
not specified [RCV004496421] |
Chr14:24407914 [GRCh38] Chr14:24877120 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2573C>T (p.Ser858Leu) |
single nucleotide variant |
not specified [RCV004496422] |
Chr14:24411381 [GRCh38] Chr14:24880587 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.5051A>G (p.Gln1684Arg) |
single nucleotide variant |
not specified [RCV004496434] |
Chr14:24416800 [GRCh38] Chr14:24886006 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3791A>T (p.Asp1264Val) |
single nucleotide variant |
not specified [RCV004496426] |
Chr14:24415540 [GRCh38] Chr14:24884746 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.4093T>C (p.Phe1365Leu) |
single nucleotide variant |
not specified [RCV004496428] |
Chr14:24415842 [GRCh38] Chr14:24885048 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.1827T>G (p.Asn609Lys) |
single nucleotide variant |
not specified [RCV004496414] |
Chr14:24409621 [GRCh38] Chr14:24878827 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.185T>C (p.Met62Thr) |
single nucleotide variant |
not specified [RCV004496415] |
Chr14:24399431 [GRCh38] Chr14:24868637 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.2261A>G (p.Gln754Arg) |
single nucleotide variant |
not specified [RCV004496419] |
Chr14:24410055 [GRCh38] Chr14:24879261 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3242A>G (p.His1081Arg) |
single nucleotide variant |
not specified [RCV004496423] |
Chr14:24414991 [GRCh38] Chr14:24884197 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3847C>G (p.Arg1283Gly) |
single nucleotide variant |
not specified [RCV004496427] |
Chr14:24415596 [GRCh38] Chr14:24884802 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.1297A>C (p.Arg433=) |
single nucleotide variant |
not provided [RCV004546218] |
Chr14:24409091 [GRCh38] Chr14:24878297 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.2135C>T (p.Ser712Phe) |
single nucleotide variant |
not specified [RCV004496418] |
Chr14:24409929 [GRCh38] Chr14:24879135 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3551A>G (p.His1184Arg) |
single nucleotide variant |
not specified [RCV004496424] |
Chr14:24415300 [GRCh38] Chr14:24884506 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.4943C>T (p.Ala1648Val) |
single nucleotide variant |
not specified [RCV004496433] |
Chr14:24416692 [GRCh38] Chr14:24885898 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.5429A>T (p.Glu1810Val) |
single nucleotide variant |
not specified [RCV004496436] |
Chr14:24417178 [GRCh38] Chr14:24886384 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.733G>A (p.Val245Met) |
single nucleotide variant |
not specified [RCV004496438] |
Chr14:24408403 [GRCh38] Chr14:24877609 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2005C>T (p.Pro669Ser) |
single nucleotide variant |
not specified [RCV004496416] |
Chr14:24409799 [GRCh38] Chr14:24879005 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.4471A>C (p.Ile1491Leu) |
single nucleotide variant |
not specified [RCV004496429] |
Chr14:24416220 [GRCh38] Chr14:24885426 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.4517C>T (p.Pro1506Leu) |
single nucleotide variant |
not specified [RCV004496430] |
Chr14:24416266 [GRCh38] Chr14:24885472 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.5135G>T (p.Cys1712Phe) |
single nucleotide variant |
not specified [RCV004496435] |
Chr14:24416884 [GRCh38] Chr14:24886090 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.884T>C (p.Met295Thr) |
single nucleotide variant |
not specified [RCV004496439] |
Chr14:24408678 [GRCh38] Chr14:24877884 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.3559G>T (p.Ala1187Ser) |
single nucleotide variant |
not specified [RCV004496425] |
Chr14:24415308 [GRCh38] Chr14:24884514 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.4791C>G (p.Ser1597Arg) |
single nucleotide variant |
not specified [RCV004496432] |
Chr14:24416540 [GRCh38] Chr14:24885746 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.592G>A (p.Gly198Ser) |
single nucleotide variant |
not provided [RCV005104809]|not specified [RCV004496437] |
Chr14:24408262 [GRCh38] Chr14:24877468 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.5452A>G (p.Lys1818Glu) |
single nucleotide variant |
not specified [RCV004652867] |
Chr14:24417201 [GRCh38] Chr14:24886407 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3185C>T (p.Ser1062Phe) |
single nucleotide variant |
not specified [RCV004638994] |
Chr14:24414934 [GRCh38] Chr14:24884140 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.653C>T (p.Pro218Leu) |
single nucleotide variant |
not specified [RCV004638989] |
Chr14:24408323 [GRCh38] Chr14:24877529 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.698C>T (p.Ala233Val) |
single nucleotide variant |
not specified [RCV004638992] |
Chr14:24408368 [GRCh38] Chr14:24877574 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.1506G>C (p.Gln502His) |
single nucleotide variant |
not specified [RCV004652869] |
Chr14:24409300 [GRCh38] Chr14:24878506 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.5473G>A (p.Glu1825Lys) |
single nucleotide variant |
not specified [RCV004652870] |
Chr14:24417222 [GRCh38] Chr14:24886428 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2134T>G (p.Ser712Ala) |
single nucleotide variant |
not specified [RCV004638990] |
Chr14:24409928 [GRCh38] Chr14:24879134 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.8T>C (p.Leu3Pro) |
single nucleotide variant |
not specified [RCV004638991] |
Chr14:24399254 [GRCh38] Chr14:24868460 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3719C>T (p.Ala1240Val) |
single nucleotide variant |
not provided [RCV005102345]|not specified [RCV004652859] |
Chr14:24415468 [GRCh38] Chr14:24884674 [GRCh37] Chr14:14q12 |
likely benign|uncertain significance |
NM_025081.3(NYNRIN):c.3343G>A (p.Val1115Met) |
single nucleotide variant |
not specified [RCV004652861] |
Chr14:24415092 [GRCh38] Chr14:24884298 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.1790C>G (p.Ala597Gly) |
single nucleotide variant |
not provided [RCV005102346]|not specified [RCV004652862] |
Chr14:24409584 [GRCh38] Chr14:24878790 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.1531G>A (p.Gly511Arg) |
single nucleotide variant |
not provided [RCV005102347]|not specified [RCV004652863] |
Chr14:24409325 [GRCh38] Chr14:24878531 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.4081G>A (p.Gly1361Ser) |
single nucleotide variant |
not specified [RCV004652864] |
Chr14:24415830 [GRCh38] Chr14:24885036 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.4511C>T (p.Ser1504Phe) |
single nucleotide variant |
not specified [RCV004652865] |
Chr14:24416260 [GRCh38] Chr14:24885466 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3733C>T (p.Arg1245Trp) |
single nucleotide variant |
not specified [RCV004652866] |
Chr14:24415482 [GRCh38] Chr14:24884688 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.2202C>G (p.Ser734Arg) |
single nucleotide variant |
not specified [RCV004652868] |
Chr14:24409996 [GRCh38] Chr14:24879202 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2597C>T (p.Pro866Leu) |
single nucleotide variant |
NYNRIN-related disorder [RCV004747644] |
Chr14:24411405 [GRCh38] Chr14:24880611 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.5158T>G (p.Trp1720Gly) |
single nucleotide variant |
NYNRIN-related disorder [RCV004726289] |
Chr14:24416907 [GRCh38] Chr14:24886113 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3770G>A (p.Arg1257Gln) |
single nucleotide variant |
not specified [RCV004835715] |
Chr14:24415519 [GRCh38] Chr14:24884725 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.1982A>G (p.Lys661Arg) |
single nucleotide variant |
not specified [RCV004835716] |
Chr14:24409776 [GRCh38] Chr14:24878982 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3314G>A (p.Arg1105Lys) |
single nucleotide variant |
not specified [RCV004835706] |
Chr14:24415063 [GRCh38] Chr14:24884269 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.4012C>G (p.Pro1338Ala) |
single nucleotide variant |
not specified [RCV004835708] |
Chr14:24415761 [GRCh38] Chr14:24884967 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.1553C>T (p.Thr518Ile) |
single nucleotide variant |
Predisposition to Wilms tumor [RCV005055245]|not provided [RCV005107652]|not specified [RCV004835710] |
Chr14:24409347 [GRCh38] Chr14:24878553 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.883A>T (p.Met295Leu) |
single nucleotide variant |
not specified [RCV004835712] |
Chr14:24408677 [GRCh38] Chr14:24877883 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.5116C>T (p.Arg1706Trp) |
single nucleotide variant |
not specified [RCV004835713] |
Chr14:24416865 [GRCh38] Chr14:24886071 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.4297C>T (p.Arg1433Trp) |
single nucleotide variant |
not specified [RCV004835714] |
Chr14:24416046 [GRCh38] Chr14:24885252 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.137C>G (p.Pro46Arg) |
single nucleotide variant |
not specified [RCV004834775] |
Chr14:24399383 [GRCh38] Chr14:24868589 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.908C>A (p.Thr303Lys) |
single nucleotide variant |
not specified [RCV004834778] |
Chr14:24408702 [GRCh38] Chr14:24877908 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.5386G>A (p.Glu1796Lys) |
single nucleotide variant |
not specified [RCV004834779] |
Chr14:24417135 [GRCh38] Chr14:24886341 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.1619T>C (p.Val540Ala) |
single nucleotide variant |
not specified [RCV004835720] |
Chr14:24409413 [GRCh38] Chr14:24878619 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2077A>G (p.Thr693Ala) |
single nucleotide variant |
not specified [RCV004835717] |
Chr14:24409871 [GRCh38] Chr14:24879077 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2316C>A (p.His772Gln) |
single nucleotide variant |
not specified [RCV004835718] |
Chr14:24410110 [GRCh38] Chr14:24879316 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3662G>A (p.Arg1221His) |
single nucleotide variant |
not specified [RCV004834776] |
Chr14:24415411 [GRCh38] Chr14:24884617 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3722A>G (p.Asp1241Gly) |
single nucleotide variant |
not specified [RCV004834777] |
Chr14:24415471 [GRCh38] Chr14:24884677 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.1538C>T (p.Ala513Val) |
single nucleotide variant |
not specified [RCV004835707] |
Chr14:24409332 [GRCh38] Chr14:24878538 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.1306G>T (p.Gly436Trp) |
single nucleotide variant |
not provided [RCV005107653]|not specified [RCV004835711] |
Chr14:24409100 [GRCh38] Chr14:24878306 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.1306G>A (p.Gly436Arg) |
single nucleotide variant |
not specified [RCV004835719] |
Chr14:24409100 [GRCh38] Chr14:24878306 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.5138T>C (p.Leu1713Pro) |
single nucleotide variant |
not provided [RCV005107654]|not specified [RCV004834780] |
Chr14:24416887 [GRCh38] Chr14:24886093 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.5435C>T (p.Ala1812Val) |
single nucleotide variant |
not provided [RCV005106065] |
Chr14:24417184 [GRCh38] Chr14:24886390 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.457G>A (p.Gly153Arg) |
single nucleotide variant |
not provided [RCV005196193] |
Chr14:24408127 [GRCh38] Chr14:24877333 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3729G>C (p.Glu1243Asp) |
single nucleotide variant |
not provided [RCV005105781] |
Chr14:24415478 [GRCh38] Chr14:24884684 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.4731G>A (p.Glu1577=) |
single nucleotide variant |
not provided [RCV005105977] |
Chr14:24416480 [GRCh38] Chr14:24885686 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.912G>A (p.Val304=) |
single nucleotide variant |
not provided [RCV005106225] |
Chr14:24408706 [GRCh38] Chr14:24877912 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.1958T>C (p.Val653Ala) |
single nucleotide variant |
not provided [RCV005147371] |
Chr14:24409752 [GRCh38] Chr14:24878958 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.1910C>T (p.Pro637Leu) |
single nucleotide variant |
not provided [RCV005066684] |
Chr14:24409704 [GRCh38] Chr14:24878910 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3313A>G (p.Arg1105Gly) |
single nucleotide variant |
Predisposition to Wilms tumor [RCV005055296] |
Chr14:24415062 [GRCh38] Chr14:24884268 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.5281C>G (p.Leu1761Val) |
single nucleotide variant |
not provided [RCV005105849] |
Chr14:24417030 [GRCh38] Chr14:24886236 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.198+20C>T |
single nucleotide variant |
not provided [RCV005196050] |
Chr14:24399464 [GRCh38] Chr14:24868670 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.591G>A (p.Ala197=) |
single nucleotide variant |
not provided [RCV005105438] |
Chr14:24408261 [GRCh38] Chr14:24877467 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.654G>A (p.Pro218=) |
single nucleotide variant |
not provided [RCV005105935] |
Chr14:24408324 [GRCh38] Chr14:24877530 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.5213C>T (p.Ala1738Val) |
single nucleotide variant |
not provided [RCV005063921] |
Chr14:24416962 [GRCh38] Chr14:24886168 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.1664C>A (p.Ala555Asp) |
single nucleotide variant |
Predisposition to Wilms tumor [RCV005055295] |
Chr14:24409458 [GRCh38] Chr14:24878664 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2421C>G (p.Gly807=) |
single nucleotide variant |
not provided [RCV005088691] |
Chr14:24411082 [GRCh38] Chr14:24880288 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.4564C>T (p.Leu1522=) |
single nucleotide variant |
not provided [RCV005145210] |
Chr14:24416313 [GRCh38] Chr14:24885519 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.2414+17G>A |
single nucleotide variant |
not provided [RCV005172736] |
Chr14:24410225 [GRCh38] Chr14:24879431 [GRCh37] Chr14:14q12 |
benign |
NM_025081.3(NYNRIN):c.5423C>T (p.Ala1808Val) |
single nucleotide variant |
not provided [RCV005106086] |
Chr14:24417172 [GRCh38] Chr14:24886378 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3474G>T (p.Leu1158=) |
single nucleotide variant |
not provided [RCV005085870] |
Chr14:24415223 [GRCh38] Chr14:24884429 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2430C>T (p.His810=) |
single nucleotide variant |
not provided [RCV005145871] |
Chr14:24411091 [GRCh38] Chr14:24880297 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.3119G>T (p.Arg1040Leu) |
single nucleotide variant |
Predisposition to Wilms tumor [RCV005055293] |
Chr14:24414868 [GRCh38] Chr14:24884074 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.861C>G (p.Val287=) |
single nucleotide variant |
Predisposition to Wilms tumor [RCV005055292] |
Chr14:24408655 [GRCh38] Chr14:24877861 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2925T>C (p.Ser975=) |
single nucleotide variant |
not provided [RCV005113387] |
Chr14:24414674 [GRCh38] Chr14:24883880 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3276C>T (p.Thr1092=) |
single nucleotide variant |
not provided [RCV005121835] |
Chr14:24415025 [GRCh38] Chr14:24884231 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.4872G>A (p.Pro1624=) |
single nucleotide variant |
not provided [RCV005193251] |
Chr14:24416621 [GRCh38] Chr14:24885827 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.979A>G (p.Lys327Glu) |
single nucleotide variant |
not provided [RCV005184572] |
Chr14:24408773 [GRCh38] Chr14:24877979 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.1023G>T (p.Leu341=) |
single nucleotide variant |
not provided [RCV005191378] |
Chr14:24408817 [GRCh38] Chr14:24878023 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.1157C>T (p.Ala386Val) |
single nucleotide variant |
not provided [RCV005191379] |
Chr14:24408951 [GRCh38] Chr14:24878157 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3723C>T (p.Asp1241=) |
single nucleotide variant |
not provided [RCV005147973] |
Chr14:24415472 [GRCh38] Chr14:24884678 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.4970C>T (p.Thr1657Met) |
single nucleotide variant |
not provided [RCV005153250] |
Chr14:24416719 [GRCh38] Chr14:24885925 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.4969_4970del (p.Thr1657fs) |
microsatellite |
not provided [RCV005197210] |
Chr14:24416710..24416711 [GRCh38] Chr14:24885916..24885917 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.997C>T (p.Leu333Phe) |
single nucleotide variant |
not provided [RCV005132999] |
Chr14:24408791 [GRCh38] Chr14:24877997 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3996A>G (p.Leu1332=) |
single nucleotide variant |
not provided [RCV005150665] |
Chr14:24415745 [GRCh38] Chr14:24884951 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.491G>A (p.Gly164Glu) |
single nucleotide variant |
not provided [RCV005108850] |
Chr14:24408161 [GRCh38] Chr14:24877367 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2606T>C (p.Leu869Pro) |
single nucleotide variant |
not provided [RCV005110939] |
Chr14:24411414 [GRCh38] Chr14:24880620 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.5373A>T (p.Leu1791=) |
single nucleotide variant |
not provided [RCV005153666] |
Chr14:24417122 [GRCh38] Chr14:24886328 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.2806G>A (p.Asp936Asn) |
single nucleotide variant |
not provided [RCV005122909] |
Chr14:24413377 [GRCh38] Chr14:24882583 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.5382G>C (p.Val1794=) |
single nucleotide variant |
not provided [RCV005184985] |
Chr14:24417131 [GRCh38] Chr14:24886337 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.5238G>A (p.Leu1746=) |
single nucleotide variant |
not provided [RCV005187403] |
Chr14:24416987 [GRCh38] Chr14:24886193 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3122G>A (p.Cys1041Tyr) |
single nucleotide variant |
not provided [RCV005188958] |
Chr14:24414871 [GRCh38] Chr14:24884077 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.5574G>A (p.Leu1858=) |
single nucleotide variant |
not provided [RCV005078471] |
Chr14:24417323 [GRCh38] Chr14:24886529 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.639C>G (p.Asp213Glu) |
single nucleotide variant |
not provided [RCV005187686] |
Chr14:24408309 [GRCh38] Chr14:24877515 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3306C>T (p.Asp1102=) |
single nucleotide variant |
not provided [RCV005189017] |
Chr14:24415055 [GRCh38] Chr14:24884261 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3505G>A (p.Val1169Met) |
single nucleotide variant |
not provided [RCV005189431] |
Chr14:24415254 [GRCh38] Chr14:24884460 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.1371G>A (p.Thr457=) |
single nucleotide variant |
not provided [RCV005108568] |
Chr14:24409165 [GRCh38] Chr14:24878371 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.2064G>A (p.Thr688=) |
single nucleotide variant |
not provided [RCV005076412] |
Chr14:24409858 [GRCh38] Chr14:24879064 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2399G>A (p.Ser800Asn) |
single nucleotide variant |
not provided [RCV005201477] |
Chr14:24410193 [GRCh38] Chr14:24879399 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.543G>T (p.Leu181=) |
single nucleotide variant |
not provided [RCV005136822] |
Chr14:24408213 [GRCh38] Chr14:24877419 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.4351G>T (p.Gly1451Trp) |
single nucleotide variant |
not provided [RCV005116621] |
Chr14:24416100 [GRCh38] Chr14:24885306 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2931C>T (p.Asp977=) |
single nucleotide variant |
not provided [RCV005148759] |
Chr14:24414680 [GRCh38] Chr14:24883886 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.4152C>A (p.Leu1384=) |
single nucleotide variant |
not provided [RCV005185733] |
Chr14:24415901 [GRCh38] Chr14:24885107 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.375G>A (p.Glu125=) |
single nucleotide variant |
not provided [RCV005118278] |
Chr14:24408045 [GRCh38] Chr14:24877251 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.4945T>C (p.Phe1649Leu) |
single nucleotide variant |
not provided [RCV005187882] |
Chr14:24416694 [GRCh38] Chr14:24885900 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2817C>T (p.Thr939=) |
single nucleotide variant |
not provided [RCV005110728] |
Chr14:24413388 [GRCh38] Chr14:24882594 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.2194G>C (p.Ala732Pro) |
single nucleotide variant |
not provided [RCV005113045] |
Chr14:24409988 [GRCh38] Chr14:24879194 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.4622G>A (p.Arg1541Gln) |
single nucleotide variant |
not provided [RCV005190659] |
Chr14:24416371 [GRCh38] Chr14:24885577 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2126C>T (p.Ala709Val) |
single nucleotide variant |
not provided [RCV005108703] |
Chr14:24409920 [GRCh38] Chr14:24879126 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3927C>T (p.Cys1309=) |
single nucleotide variant |
not provided [RCV005113124] |
Chr14:24415676 [GRCh38] Chr14:24884882 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.4052C>T (p.Thr1351Ile) |
single nucleotide variant |
not provided [RCV005110940] |
Chr14:24415801 [GRCh38] Chr14:24885007 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.4613C>T (p.Thr1538Met) |
single nucleotide variant |
not provided [RCV005123935] |
Chr14:24416362 [GRCh38] Chr14:24885568 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2846+5T>C |
single nucleotide variant |
not provided [RCV005186056] |
Chr14:24413422 [GRCh38] Chr14:24882628 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3048G>C (p.Glu1016Asp) |
single nucleotide variant |
not provided [RCV005157347] |
Chr14:24414797 [GRCh38] Chr14:24884003 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.4518G>A (p.Pro1506=) |
single nucleotide variant |
not provided [RCV005193857] |
Chr14:24416267 [GRCh38] Chr14:24885473 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.4503G>A (p.Leu1501=) |
single nucleotide variant |
not provided [RCV005144263] |
Chr14:24416252 [GRCh38] Chr14:24885458 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.1670A>C (p.Asn557Thr) |
single nucleotide variant |
not provided [RCV005144470] |
Chr14:24409464 [GRCh38] Chr14:24878670 [GRCh37] Chr14:14q12 |
benign |
NM_025081.3(NYNRIN):c.3917C>T (p.Thr1306Met) |
single nucleotide variant |
not provided [RCV005144776] |
Chr14:24415666 [GRCh38] Chr14:24884872 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2900G>A (p.Ser967Asn) |
single nucleotide variant |
not provided [RCV005132159] |
Chr14:24414649 [GRCh38] Chr14:24883855 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.5335G>A (p.Ala1779Thr) |
single nucleotide variant |
not provided [RCV005189040] |
Chr14:24417084 [GRCh38] Chr14:24886290 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.1728G>A (p.Met576Ile) |
single nucleotide variant |
not provided [RCV005117612] |
Chr14:24409522 [GRCh38] Chr14:24878728 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.4530C>G (p.Ala1510=) |
single nucleotide variant |
not provided [RCV005143162] |
Chr14:24416279 [GRCh38] Chr14:24885485 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.1310G>A (p.Gly437Glu) |
single nucleotide variant |
not provided [RCV005166327] |
Chr14:24409104 [GRCh38] Chr14:24878310 [GRCh37] Chr14:14q12 |
benign |
NM_025081.3(NYNRIN):c.4343G>T (p.Gly1448Val) |
single nucleotide variant |
not provided [RCV005135341] |
Chr14:24416092 [GRCh38] Chr14:24885298 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.1046C>T (p.Ala349Val) |
single nucleotide variant |
not provided [RCV005200141] |
Chr14:24408840 [GRCh38] Chr14:24878046 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.1894G>T (p.Val632Leu) |
single nucleotide variant |
not provided [RCV005186278] |
Chr14:24409688 [GRCh38] Chr14:24878894 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.783A>T (p.Leu261Phe) |
single nucleotide variant |
not provided [RCV005136767] |
Chr14:24408453 [GRCh38] Chr14:24877659 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.5254T>C (p.Ser1752Pro) |
single nucleotide variant |
not provided [RCV005207275] |
Chr14:24417003 [GRCh38] Chr14:24886209 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.5139G>C (p.Leu1713=) |
single nucleotide variant |
not provided [RCV005188506] |
Chr14:24416888 [GRCh38] Chr14:24886094 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2196C>T (p.Ala732=) |
single nucleotide variant |
not provided [RCV005192087] |
Chr14:24409990 [GRCh38] Chr14:24879196 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.3877C>T (p.Arg1293Cys) |
single nucleotide variant |
not provided [RCV005081742] |
Chr14:24415626 [GRCh38] Chr14:24884832 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.1131A>G (p.Leu377=) |
single nucleotide variant |
not provided [RCV005153447] |
Chr14:24408925 [GRCh38] Chr14:24878131 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3439T>C (p.Ser1147Pro) |
single nucleotide variant |
not provided [RCV005113009] |
Chr14:24415188 [GRCh38] Chr14:24884394 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.1215A>G (p.Pro405=) |
single nucleotide variant |
not provided [RCV005139909] |
Chr14:24409009 [GRCh38] Chr14:24878215 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.1311G>C (p.Gly437=) |
single nucleotide variant |
not provided [RCV005141800] |
Chr14:24409105 [GRCh38] Chr14:24878311 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.3680C>G (p.Pro1227Arg) |
single nucleotide variant |
not provided [RCV005108591] |
Chr14:24415429 [GRCh38] Chr14:24884635 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.5669C>T (p.Pro1890Leu) |
single nucleotide variant |
not provided [RCV005110858] |
Chr14:24417418 [GRCh38] Chr14:24886624 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.889A>C (p.Ser297Arg) |
single nucleotide variant |
not provided [RCV005165644] |
Chr14:24408683 [GRCh38] Chr14:24877889 [GRCh37] Chr14:14q12 |
benign |
NM_025081.3(NYNRIN):c.2562G>A (p.Thr854=) |
single nucleotide variant |
not provided [RCV005108556] |
Chr14:24411370 [GRCh38] Chr14:24880576 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.2270G>A (p.Arg757His) |
single nucleotide variant |
not provided [RCV005111401] |
Chr14:24410064 [GRCh38] Chr14:24879270 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.648C>T (p.Ser216=) |
single nucleotide variant |
not provided [RCV005192423] |
Chr14:24408318 [GRCh38] Chr14:24877524 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.5217C>T (p.Ala1739=) |
single nucleotide variant |
not provided [RCV005084031] |
Chr14:24416966 [GRCh38] Chr14:24886172 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.4791C>T (p.Ser1597=) |
single nucleotide variant |
not provided [RCV005118330] |
Chr14:24416540 [GRCh38] Chr14:24885746 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.2059C>T (p.Pro687Ser) |
single nucleotide variant |
not provided [RCV005118331] |
Chr14:24409853 [GRCh38] Chr14:24879059 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.1271T>C (p.Leu424Pro) |
single nucleotide variant |
not provided [RCV005081293] |
Chr14:24409065 [GRCh38] Chr14:24878271 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.1579G>A (p.Gly527Arg) |
single nucleotide variant |
not provided [RCV005141717] |
Chr14:24409373 [GRCh38] Chr14:24878579 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.5694G>C (p.Gln1898His) |
single nucleotide variant |
not provided [RCV005141718] |
Chr14:24417443 [GRCh38] Chr14:24886649 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2415-11C>T |
single nucleotide variant |
not provided [RCV005156474] |
Chr14:24411065 [GRCh38] Chr14:24880271 [GRCh37] Chr14:14q12 |
benign |
NM_025081.3(NYNRIN):c.4900_4901delinsTT (p.His1634Phe) |
indel |
not provided [RCV005192578] |
Chr14:24416649..24416650 [GRCh38] Chr14:24885855..24885856 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.4653T>A (p.Ile1551=) |
single nucleotide variant |
not provided [RCV005131365] |
Chr14:24416402 [GRCh38] Chr14:24885608 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.1481A>G (p.Glu494Gly) |
single nucleotide variant |
not provided [RCV005121466] |
Chr14:24409275 [GRCh38] Chr14:24878481 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3795A>C (p.Lys1265Asn) |
single nucleotide variant |
not provided [RCV005121469] |
Chr14:24415544 [GRCh38] Chr14:24884750 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.478A>G (p.Thr160Ala) |
single nucleotide variant |
not provided [RCV005190764] |
Chr14:24408148 [GRCh38] Chr14:24877354 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.252A>G (p.Pro84=) |
single nucleotide variant |
not provided [RCV005109895] |
Chr14:24407922 [GRCh38] Chr14:24877128 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2643-5T>C |
single nucleotide variant |
not provided [RCV005152636] |
Chr14:24412992 [GRCh38] Chr14:24882198 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.5088C>T (p.Ala1696=) |
single nucleotide variant |
not provided [RCV005152637] |
Chr14:24416837 [GRCh38] Chr14:24886043 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.2415-10G>A |
single nucleotide variant |
not provided [RCV005113365] |
Chr14:24411066 [GRCh38] Chr14:24880272 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.3058G>T (p.Asp1020Tyr) |
single nucleotide variant |
not provided [RCV005122761] |
Chr14:24414807 [GRCh38] Chr14:24884013 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2963A>G (p.Asn988Ser) |
single nucleotide variant |
not provided [RCV005183394] |
Chr14:24414712 [GRCh38] Chr14:24883918 [GRCh37] Chr14:14q12 |
benign |
NM_025081.3(NYNRIN):c.4077C>A (p.Ala1359=) |
single nucleotide variant |
not provided [RCV005110997] |
Chr14:24415826 [GRCh38] Chr14:24885032 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.4548C>T (p.Leu1516=) |
single nucleotide variant |
not provided [RCV005176891] |
Chr14:24416297 [GRCh38] Chr14:24885503 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.4425G>A (p.Arg1475=) |
single nucleotide variant |
not provided [RCV005122912] |
Chr14:24416174 [GRCh38] Chr14:24885380 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.4046C>T (p.Thr1349Met) |
single nucleotide variant |
not provided [RCV005197444] |
Chr14:24415795 [GRCh38] Chr14:24885001 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2642+7C>T |
single nucleotide variant |
not provided [RCV005108139] |
Chr14:24411457 [GRCh38] Chr14:24880663 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2962A>T (p.Asn988Tyr) |
single nucleotide variant |
not provided [RCV005203354] |
Chr14:24414711 [GRCh38] Chr14:24883917 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.4355G>T (p.Gly1452Val) |
single nucleotide variant |
not provided [RCV005201112] |
Chr14:24416104 [GRCh38] Chr14:24885310 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2282C>T (p.Ala761Val) |
single nucleotide variant |
not provided [RCV005183841] |
Chr14:24410076 [GRCh38] Chr14:24879282 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.4270C>T (p.Leu1424Phe) |
single nucleotide variant |
not provided [RCV005108782] |
Chr14:24416019 [GRCh38] Chr14:24885225 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2070A>C (p.Ala690=) |
single nucleotide variant |
not provided [RCV005201202] |
Chr14:24409864 [GRCh38] Chr14:24879070 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.4745A>C (p.Tyr1582Ser) |
single nucleotide variant |
not provided [RCV005201203] |
Chr14:24416494 [GRCh38] Chr14:24885700 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3144del (p.Asp1049fs) |
deletion |
not provided [RCV005128735] |
Chr14:24414893 [GRCh38] Chr14:24884099 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.4975G>A (p.Val1659Met) |
single nucleotide variant |
not provided [RCV005198683] |
Chr14:24416724 [GRCh38] Chr14:24885930 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3743G>A (p.Arg1248His) |
single nucleotide variant |
not provided [RCV005125451] |
Chr14:24415492 [GRCh38] Chr14:24884698 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.2744G>A (p.Arg915His) |
single nucleotide variant |
not provided [RCV005202578] |
Chr14:24413098 [GRCh38] Chr14:24882304 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3896C>T (p.Pro1299Leu) |
single nucleotide variant |
not provided [RCV005110494] |
Chr14:24415645 [GRCh38] Chr14:24884851 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.5010G>A (p.Arg1670=) |
single nucleotide variant |
not provided [RCV005115094] |
Chr14:24416759 [GRCh38] Chr14:24885965 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.3676A>G (p.Thr1226Ala) |
single nucleotide variant |
not provided [RCV005124336] |
Chr14:24415425 [GRCh38] Chr14:24884631 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.1632C>G (p.Leu544=) |
single nucleotide variant |
not provided [RCV005184158] |
Chr14:24409426 [GRCh38] Chr14:24878632 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.1978T>G (p.Ser660Ala) |
single nucleotide variant |
not provided [RCV005112987] |
Chr14:24409772 [GRCh38] Chr14:24878978 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2602C>G (p.Gln868Glu) |
single nucleotide variant |
not provided [RCV005199318] |
Chr14:24411410 [GRCh38] Chr14:24880616 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.4663G>A (p.Ala1555Thr) |
single nucleotide variant |
not provided [RCV005113057] |
Chr14:24416412 [GRCh38] Chr14:24885618 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2149C>G (p.Gln717Glu) |
single nucleotide variant |
not provided [RCV005110731] |
Chr14:24409943 [GRCh38] Chr14:24879149 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.237A>G (p.Lys79=) |
single nucleotide variant |
not provided [RCV005113137] |
Chr14:24407907 [GRCh38] Chr14:24877113 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.1039T>G (p.Trp347Gly) |
single nucleotide variant |
not provided [RCV005110785] |
Chr14:24408833 [GRCh38] Chr14:24878039 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.2589A>C (p.Ser863=) |
single nucleotide variant |
not provided [RCV005112948] |
Chr14:24411397 [GRCh38] Chr14:24880603 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.4233C>T (p.Leu1411=) |
single nucleotide variant |
not provided [RCV005122590] |
Chr14:24415982 [GRCh38] Chr14:24885188 [GRCh37] Chr14:14q12 |
likely benign |
NM_025081.3(NYNRIN):c.1421C>T (p.Ser474Leu) |
single nucleotide variant |
not provided [RCV005109729] |
Chr14:24409215 [GRCh38] Chr14:24878421 [GRCh37] Chr14:14q12 |
uncertain significance |
NM_025081.3(NYNRIN):c.863G>T (p.Gly288Val) |
single nucleotide variant |
not provided [RCV005129192] |
Chr14:24408657 [GRCh38] Chr14:24877863 [GRCh37] Chr14:14q12 |
uncertain significance |