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3. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
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7. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
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10. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
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PMID:34310819 | PMID:34344199 | PMID:34366324 | PMID:34373541 | PMID:34563653 | PMID:34680178 | PMID:34710947 | PMID:34725737 | PMID:34741450 | PMID:34757920 | PMID:34769224 | PMID:34822305 |
PMID:34864862 | PMID:34905813 | PMID:34925234 | PMID:34981673 | PMID:35031902 | PMID:35044719 | PMID:35063667 | PMID:35091706 | PMID:35177769 | PMID:35384245 | PMID:35404189 | PMID:35616103 |
PMID:35627249 | PMID:35705526 | PMID:35985422 | PMID:36059009 | PMID:36202311 | PMID:36522435 | PMID:36576611 | PMID:36632846 | PMID:36736316 | PMID:36765275 | PMID:36821595 | PMID:36878499 |
PMID:36918928 | PMID:37061618 | PMID:37188126 | PMID:37466466 | PMID:37595672 | PMID:37659079 | PMID:37713609 | PMID:37870964 | PMID:37921725 | PMID:37995867 | PMID:38027168 | PMID:38061115 |
PMID:38254638 | PMID:38465999 | PMID:38493096 | PMID:38576288 |
RET (Homo sapiens - human) |
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Ret (Mus musculus - house mouse) |
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Ret (Rattus norvegicus - Norway rat) |
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Ret (Chinchilla lanigera - long-tailed chinchilla) |
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RET (Pan paniscus - bonobo/pygmy chimpanzee) |
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RET (Canis lupus familiaris - dog) |
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Ret (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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RET (Sus scrofa - pig) |
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RET (Chlorocebus sabaeus - green monkey) |
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Ret (Heterocephalus glaber - naked mole-rat) |
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.
Variants in RET
3302 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_020975.6(RET):c.2790G>A (p.Thr930=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000561012]|Hirschsprung disease, susceptibility to, 1 [RCV002491141]|Multiple endocrine neoplasia, type 2 [RCV000868350] | Chr10:43122005 [GRCh38] Chr10:43617453 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1216A>G (p.Ser406Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000566445]|Multiple endocrine neoplasia, type 2 [RCV000686269]|Ovarian cancer [RCV003153736]|not provided [RCV002530239] | Chr10:43109183 [GRCh38] Chr10:43604631 [GRCh37] Chr10:10q11.21 |
benign|uncertain significance |
NM_020975.6(RET):c.3264A>G (p.Pro1088=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000565266] | Chr10:43128188 [GRCh38] Chr10:43623636 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.31C>T (p.Leu11=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002325102]|Hirschsprung disease, susceptibility to, 1 [RCV002491106]|Multiple endocrine neoplasia, type 2 [RCV000547016] | Chr10:43077289 [GRCh38] Chr10:43572737 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1441C>G (p.Leu481Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001011599]|Multiple endocrine neoplasia, type 2 [RCV000524715]|Multiple endocrine neoplasia, type 2a [RCV000662529] | Chr10:43111384 [GRCh38] Chr10:43606832 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1102C>T (p.Arg368Cys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000567474]|Hirschsprung disease, susceptibility to, 1 [RCV002476249]|Multiple endocrine neoplasia, type 2 [RCV000802145]|not provided [RCV003225093] | Chr10:43109069 [GRCh38] Chr10:43604517 [GRCh37] Chr10:10q11.21 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.2598C>T (p.Ala866=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000566849]|Multiple endocrine neoplasia, type 2 [RCV000654615] | Chr10:43119736 [GRCh38] Chr10:43615184 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2030G>A (p.Arg677Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002420537]|Multiple endocrine neoplasia, type 2 [RCV000545044] | Chr10:43114630 [GRCh38] Chr10:43610078 [GRCh37] Chr10:10q11.21 |
benign|uncertain significance |
NM_020975.6(RET):c.2679C>T (p.Phe893=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000570139]|Hirschsprung disease, susceptibility to, 1 [RCV002497195]|Multiple endocrine neoplasia, type 2 [RCV000544339]|not provided [RCV003419995] | Chr10:43120152 [GRCh38] Chr10:43615600 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2965A>G (p.Lys989Glu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000550763] | Chr10:43124908 [GRCh38] Chr10:43620356 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2005A>G (p.Ile669Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000566339]|Hirschsprung disease, susceptibility to, 1 [RCV002491139]|Multiple endocrine neoplasia, type 2 [RCV001359410]|not provided [RCV003222050] | Chr10:43114605 [GRCh38] Chr10:43610053 [GRCh37] Chr10:10q11.21 |
benign|uncertain significance |
NM_020975.6(RET):c.1090A>G (p.Ile364Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002456263]|Hirschsprung disease, susceptibility to, 1 [RCV003459262]|Multiple endocrine neoplasia, type 2 [RCV000552058] | Chr10:43109057 [GRCh38] Chr10:43604505 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2040C>A (p.Ala680=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000563075] | Chr10:43114640 [GRCh38] Chr10:43610088 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3173A>T (p.Glu1058Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000563648]|Multiple endocrine neoplasia, type 2 [RCV001237080] | Chr10:43126708 [GRCh38] Chr10:43622156 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.230G>A (p.Arg77His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001015133]|Multiple endocrine neoplasia, type 2 [RCV000525207] | Chr10:43100615 [GRCh38] Chr10:43596063 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1539G>A (p.Ala513=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000574751]|Multiple endocrine neoplasia, type 2 [RCV001087370]|Multiple endocrine neoplasia, type 2b [RCV003316731]|not provided [RCV000679719] | Chr10:43112115 [GRCh38] Chr10:43607563 [GRCh37] Chr10:10q11.21 |
pathogenic|likely benign|uncertain significance |
NM_020975.6(RET):c.1501C>T (p.Leu501Phe) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000564433]|Multiple endocrine neoplasia, type 2 [RCV001853799] | Chr10:43111444 [GRCh38] Chr10:43606892 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.299G>A (p.Ser100Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000566561]|Multiple endocrine neoplasia, type 2 [RCV001858384] | Chr10:43100684 [GRCh38] Chr10:43596132 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.736C>A (p.His246Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000568616]|Hirschsprung disease, susceptibility to, 1 [RCV002506384]|Hirschsprung disease, susceptibility to, 1 [RCV003459398]|Multiple endocrine neoplasia, type 2 [RCV001227818] | Chr10:43105062 [GRCh38] Chr10:43600510 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.891T>C (p.Arg297=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000561748] | Chr10:43106399 [GRCh38] Chr10:43601847 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.931G>T (p.Val311Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000564728]|Multiple endocrine neoplasia, type 2 [RCV000654566]|RET-related condition [RCV003403362] | Chr10:43106439 [GRCh38] Chr10:43601887 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1931T>G (p.Phe644Cys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000561976] | Chr10:43114531 [GRCh38] Chr10:43609979 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2418C>T (p.Tyr806=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000568889]|Hirschsprung disease, susceptibility to, 1 [RCV001104778]|Multiple endocrine neoplasia [RCV001102859]|Multiple endocrine neoplasia, type 2 [RCV000551962]|Pheochromocytoma [RCV001102860]|Renal hypodysplasia/aplasia 1 [RCV001104777]|not provided [RCV001815346]|not specified [RCV001821653] | Chr10:43119556 [GRCh38] Chr10:43615004 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.2079C>G (p.Arg693=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000567163]|Multiple endocrine neoplasia, type 2 [RCV000654642]|RET-related condition [RCV003952920] | Chr10:43114679 [GRCh38] Chr10:43610127 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2375G>C (p.Gly792Ala) | single nucleotide variant | not provided [RCV000520306] | Chr10:43118463 [GRCh38] Chr10:43613911 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2382C>T (p.Cys794=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000532454] | Chr10:43118470 [GRCh38] Chr10:43613918 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.204G>T (p.Leu68=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001014198]|Multiple endocrine neoplasia, type 2 [RCV001086318]|not provided [RCV000827330] | Chr10:43100589 [GRCh38] Chr10:43596037 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1191G>A (p.Val397=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002341478]|Multiple endocrine neoplasia, type 2 [RCV000545739] | Chr10:43109158 [GRCh38] Chr10:43604606 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1084C>A (p.Leu362Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000563252]|Multiple endocrine neoplasia, type 2 [RCV000531414]|not provided [RCV003441942]|not specified [RCV001821651] | Chr10:43109051 [GRCh38] Chr10:43604499 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1493C>T (p.Ala498Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000569143]|Hirschsprung disease, susceptibility to, 1 [RCV002476248]|Multiple endocrine neoplasia, type 2 [RCV000696079]|Multiple endocrine neoplasia, type 2a [RCV003325206]|not provided [RCV002508232] | Chr10:43111436 [GRCh38] Chr10:43606884 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1896_1897delinsCG (p.Glu632_Leu633delinsAspVal) | indel | Multiple endocrine neoplasia, type 2a [RCV000144430] | Chr10:43114496..43114497 [GRCh38] Chr10:43609944..43609945 [GRCh37] Chr10:10q11.21 |
not provided |
NM_020975.6(RET):c.2215G>A (p.Val739Ile) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001367670] | Chr10:43116662 [GRCh38] Chr10:43612110 [GRCh37] Chr10:10q11.21 |
uncertain significance |
RET, 1-BP DEL, G1120 | deletion | Hirschsprung disease, susceptibility to, 1 [RCV000014945] | Chr10:10q11.2 | risk factor |
NM_020975.6(RET):c.1892_1903dup (p.Cys634_Arg635insHisGluLeuCys) | duplication | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA [RCV000014955] | Chr10:43114491..43114492 [GRCh38] Chr10:43609939..43609940 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.1586_1594dup (p.Cys531_Gly532insGluGluCys) | duplication | Familial medullary thyroid carcinoma [RCV000014968] | Chr10:43112153..43112154 [GRCh38] Chr10:43607601..43607602 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.*1969T>C | single nucleotide variant | Hirschsprung disease, protection against [RCV000014982]|Hirschsprung disease, susceptibility to, 1 [RCV000380866]|Multiple endocrine neoplasia [RCV000350648]|Multiple endocrine neoplasia, type 2a [RCV000662849]|Pheochromocytoma [RCV000328614]|Renal hypodysplasia/aplasia 1 [RCV000288793]|not provided [RCV001723569] | Chr10:43130238 [GRCh38] Chr10:43625686 [GRCh37] Chr10:10q11.21 |
benign|likely benign|protective |
NM_020975.6(RET):c.2190A>G (p.Leu730=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002432386]|Multiple endocrine neoplasia, type 2 [RCV001493974] | Chr10:43116637 [GRCh38] Chr10:43612085 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.720G>A (p.Val240=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003159941]|Multiple endocrine neoplasia, type 2 [RCV000543880] | Chr10:43105046 [GRCh38] Chr10:43600494 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1574G>A (p.Arg525Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000562267]|Multiple endocrine neoplasia, type 2 [RCV000554802] | Chr10:43112150 [GRCh38] Chr10:43607598 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1064-22A>G | single nucleotide variant | not specified [RCV003320310] | Chr10:43109009 [GRCh38] Chr10:43604457 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1161C>T (p.Gly387=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002256397]|Multiple endocrine neoplasia, type 2 [RCV000545378] | Chr10:43109128 [GRCh38] Chr10:43604576 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2801+9G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000544591] | Chr10:43122025 [GRCh38] Chr10:43617473 [GRCh37] Chr10:10q11.21 |
likely benign|conflicting interpretations of pathogenicity |
NM_020975.6(RET):c.897C>T (p.Phe299=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000561041]|Hirschsprung disease, susceptibility to, 1 [RCV002483499]|Multiple endocrine neoplasia, type 2 [RCV000560288]|RET-related condition [RCV003945333] | Chr10:43106405 [GRCh38] Chr10:43601853 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1273G>A (p.Val425Ile) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000527763] | Chr10:43111216 [GRCh38] Chr10:43606664 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2262G>A (p.Thr754=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000570375]|Hirschsprung disease, susceptibility to, 1 [RCV002483497]|Multiple endocrine neoplasia, type 2 [RCV000556868]|not specified [RCV001821652] | Chr10:43116709 [GRCh38] Chr10:43612157 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2305C>T (p.Leu769=) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV002476201]|Multiple endocrine neoplasia, type 2 [RCV000551339]|not provided [RCV003228955] | Chr10:43118393 [GRCh38] Chr10:43613841 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.997C>G (p.His333Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000566892] | Chr10:43106505 [GRCh38] Chr10:43601953 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3153C>G (p.Ala1051=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000562319]|Multiple endocrine neoplasia, type 2 [RCV001393110] | Chr10:43126688 [GRCh38] Chr10:43622136 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.676C>T (p.Arg226Cys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002367962]|Multiple endocrine neoplasia, type 2 [RCV000544813] | Chr10:43105002 [GRCh38] Chr10:43600450 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2610C>T (p.Leu870=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000565487]|Multiple endocrine neoplasia, type 2 [RCV000863794] | Chr10:43120083 [GRCh38] Chr10:43615531 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.988C>T (p.Arg330Trp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001368515]|not provided [RCV000520482] | Chr10:43106496 [GRCh38] Chr10:43601944 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1088C>T (p.Ser363Phe) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002431718]|Multiple endocrine neoplasia, type 2 [RCV000546462] | Chr10:43109055 [GRCh38] Chr10:43604503 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.487C>T (p.Arg163Trp) | single nucleotide variant | Appendicitis [RCV001523789]|Hereditary cancer-predisposing syndrome [RCV002327618]|Multiple endocrine neoplasia, type 2 [RCV002541758] | Chr10:43102491 [GRCh38] Chr10:43597939 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1871A>G (p.Asp624Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001013414]|Multiple endocrine neoplasia, type 2 [RCV000527191] | Chr10:43113667 [GRCh38] Chr10:43609115 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1798C>T (p.Arg600Trp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001013214]|Hirschsprung disease, susceptibility to, 1 [RCV001107244]|Hirschsprung disease, susceptibility to, 1 [RCV002491103]|Multiple endocrine neoplasia [RCV001107246]|Multiple endocrine neoplasia, type 2 [RCV000549713]|Pheochromocytoma [RCV001107245]|Renal hypodysplasia/aplasia 1 [RCV001107247] | Chr10:43113594 [GRCh38] Chr10:43609042 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1335T>C (p.Ser445=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000567558]|Multiple endocrine neoplasia, type 2 [RCV003645862] | Chr10:43111278 [GRCh38] Chr10:43606726 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.18C>T (p.Ser6=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001013606]|Multiple endocrine neoplasia, type 2 [RCV000547863]|not provided [RCV003237924] | Chr10:43077276 [GRCh38] Chr10:43572724 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.170G>A (p.Arg57Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000561648]|Multiple endocrine neoplasia, type 2 [RCV000558252]|not provided [RCV000679722] | Chr10:43100555 [GRCh38] Chr10:43596003 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1649G>A (p.Gly550Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002395488]|Multiple endocrine neoplasia, type 2 [RCV000543567] | Chr10:43112853 [GRCh38] Chr10:43608301 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.2422A>G (p.Lys808Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001015469]|Multiple endocrine neoplasia, type 2 [RCV000530391] | Chr10:43119560 [GRCh38] Chr10:43615008 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1306A>G (p.Ile436Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002384266]|Multiple endocrine neoplasia, type 2 [RCV000525768] | Chr10:43111249 [GRCh38] Chr10:43606697 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.3339dup (p.Ser1114Ter) | duplication | Hereditary cancer-predisposing syndrome [RCV000562354] | Chr10:43128262..43128263 [GRCh38] Chr10:43623710..43623711 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1814G>T (p.Gly605Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000527977] | Chr10:43113610 [GRCh38] Chr10:43609058 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.74-5C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001442138] | Chr10:43100454 [GRCh38] Chr10:43595902 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2482G>C (p.Gly828Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001015707]|Multiple endocrine neoplasia, type 2 [RCV000545284] | Chr10:43119620 [GRCh38] Chr10:43615068 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2448C>A (p.Leu816=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000563299]|Multiple endocrine neoplasia, type 2 [RCV001499191] | Chr10:43119586 [GRCh38] Chr10:43615034 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.566G>A (p.Arg189His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002350393]|Hirschsprung disease, susceptibility to, 1 [RCV001105731]|Multiple endocrine neoplasia [RCV001105728]|Multiple endocrine neoplasia, type 2 [RCV000526271]|Pheochromocytoma [RCV001105729]|Renal hypodysplasia/aplasia 1 [RCV001105730] | Chr10:43102570 [GRCh38] Chr10:43598018 [GRCh37] Chr10:10q11.21 |
benign|likely benign|uncertain significance |
NM_020975.6(RET):c.2989G>C (p.Val997Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002256398]|Multiple endocrine neoplasia, type 2 [RCV000524656] | Chr10:43124932 [GRCh38] Chr10:43620380 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.189G>T (p.Val63=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002413649]|Multiple endocrine neoplasia, type 2 [RCV000542288] | Chr10:43100574 [GRCh38] Chr10:43596022 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2934G>A (p.Glu978=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002438501]|Multiple endocrine neoplasia, type 2 [RCV001480375]|not provided [RCV000828002] | Chr10:43123803 [GRCh38] Chr10:43619251 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1852T>G (p.Cys618Gly) | single nucleotide variant | Congenital central hypoventilation [RCV000762807]|Familial medullary thyroid carcinoma [RCV002470710]|Hereditary cancer-predisposing syndrome [RCV002408462]|Multiple endocrine neoplasia, type 2 [RCV000228834]|Multiple endocrine neoplasia, type 2a [RCV000014919]|not provided [RCV000522833] | Chr10:43113648 [GRCh38] Chr10:43609096 [GRCh37] Chr10:10q11.21 |
pathogenic|likely pathogenic |
NM_020975.6(RET):c.2293T>C (p.Ser765Pro) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000014921] | Chr10:43118381 [GRCh38] Chr10:43613829 [GRCh37] Chr10:10q11.21 |
risk factor |
NM_020975.6(RET):c.1900T>G (p.Cys634Gly) | single nucleotide variant | Familial medullary thyroid carcinoma [RCV001310209]|Hereditary cancer-predisposing syndrome [RCV001013616]|MEN2 phenotype: Unclassified [RCV001420921]|Multiple endocrine neoplasia, type 2 [RCV000654584]|Multiple endocrine neoplasia, type 2a [RCV000014922]|Pheochromocytoma [RCV000014923]|not provided [RCV000182581] | Chr10:43114500 [GRCh38] Chr10:43609948 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000129490]|Medullary thyroid carcinoma [RCV000438527]|Multiple endocrine neoplasia type 4 [RCV000432822]|Multiple endocrine neoplasia, type 1 [RCV000422622]|Multiple endocrine neoplasia, type 2 [RCV000476408]|Multiple endocrine neoplasia, type 2a [RCV000014924]|Multiple endocrine neoplasia, type 2b [RCV000425364]|Neoplasm [RCV000421191]|Pheochromocytoma [RCV000014925]|not provided [RCV000182582] | Chr10:43114501 [GRCh38] Chr10:43609949 [GRCh37] Chr10:10q11.21 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_020975.6(RET):c.1901G>C (p.Cys634Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000021824]|Multiple endocrine neoplasia, type 2a [RCV000014926]|Multiple endocrine neoplasia, type 2b [RCV001262460]|Pheochromocytoma [RCV000014927]|not provided [RCV002251730] | Chr10:43114501 [GRCh38] Chr10:43609949 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.1901G>T (p.Cys634Phe) | single nucleotide variant | Familial medullary thyroid carcinoma [RCV000014929]|Hereditary cancer-predisposing syndrome [RCV002408463]|Multiple endocrine neoplasia, type 2 [RCV000471652]|Multiple endocrine neoplasia, type 2a [RCV000014928]|Pheochromocytoma [RCV000014930]|not provided [RCV003237413] | Chr10:43114501 [GRCh38] Chr10:43609949 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.406G>T (p.Glu136Ter) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000014931] | Chr10:43102410 [GRCh38] Chr10:43597858 [GRCh37] Chr10:10q11.21 |
risk factor |
NM_020975.6(RET):c.1833C>G (p.Cys611Trp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002513055]|Multiple endocrine neoplasia, type 2a [RCV000014932] | Chr10:43113629 [GRCh38] Chr10:43609077 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.1853G>C (p.Cys618Ser) | single nucleotide variant | Familial medullary thyroid carcinoma [RCV000014934]|Hereditary cancer-predisposing syndrome [RCV001013348]|Multiple endocrine neoplasia, type 2 [RCV000161938]|Multiple endocrine neoplasia, type 2a [RCV000014933]|not provided [RCV000082050] | Chr10:43113649 [GRCh38] Chr10:43609097 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.1858T>C (p.Cys620Arg) | single nucleotide variant | Aganglionic megacolon [RCV000736276]|Hereditary cancer-predisposing syndrome [RCV000568259]|Hirschsprung disease, susceptibility to, 1 [RCV003324711]|Multiple endocrine neoplasia, type 2 [RCV000232285]|Multiple endocrine neoplasia, type 2 [RCV000826204]|Multiple endocrine neoplasia, type 2a [RCV000014935]|not provided [RCV000182580] | Chr10:43113654 [GRCh38] Chr10:43609102 [GRCh37] Chr10:10q11.21 |
pathogenic|likely pathogenic |
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr) | single nucleotide variant | Aganglionic megacolon [RCV000678747]|Hereditary cancer-predisposing syndrome [RCV002408464]|Medullary thyroid carcinoma [RCV000420281]|Multiple endocrine neoplasia type 4 [RCV000441133]|Multiple endocrine neoplasia, type 1 [RCV000428368]|Multiple endocrine neoplasia, type 2 [RCV000021801]|Multiple endocrine neoplasia, type 2a [RCV000014936]|Multiple endocrine neoplasia, type 2b [RCV000431330]|not provided [RCV000413879] | Chr10:43113655 [GRCh38] Chr10:43609103 [GRCh37] Chr10:10q11.21 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000163338]|Hirschsprung disease, susceptibility to, 1 [RCV003460479]|Medullary thyroid carcinoma [RCV000420995]|Multiple endocrine neoplasia type 4 [RCV000420446]|Multiple endocrine neoplasia, type 1 [RCV000430685]|Multiple endocrine neoplasia, type 2 [RCV000552504]|Multiple endocrine neoplasia, type 2a [RCV000014937]|Multiple endocrine neoplasia, type 2b [RCV000431794]|Pheochromocytoma [RCV000014938]|Thyroid gland carcinoma [RCV000677899]|not provided [RCV000082051] | Chr10:43114500 [GRCh38] Chr10:43609948 [GRCh37] Chr10:10q11.21 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_020975.6(RET):c.1902C>G (p.Cys634Trp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001013621]|Medullary thyroid carcinoma [RCV000442512]|Multiple endocrine neoplasia type 4 [RCV000417418]|Multiple endocrine neoplasia, type 1 [RCV000444799]|Multiple endocrine neoplasia, type 2 [RCV000459040]|Multiple endocrine neoplasia, type 2a [RCV000014939]|Multiple endocrine neoplasia, type 2b [RCV000424817]|Pheochromocytoma [RCV000014940]|Thyroid tumor [RCV000432112]|not provided [RCV000405235] | Chr10:43114502 [GRCh38] Chr10:43609950 [GRCh37] Chr10:10q11.21 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_020975.6(RET):c.2753T>C (p.Met918Thr) | single nucleotide variant | Familial medullary thyroid carcinoma [RCV001292662]|Hereditary cancer-predisposing syndrome [RCV002255998]|Hirschsprung disease, susceptibility to, 1 [RCV001542764]|Hypertelorism [RCV000415312]|Inborn genetic diseases [RCV001266480]|Medullary thyroid carcinoma [RCV000417859]|Multiple endocrine neoplasia type 4 [RCV000444529]|Multiple endocrine neoplasia, type 1 [RCV000425499]|Multiple endocrine neoplasia, type 2 [RCV000161926]|Multiple endocrine neoplasia, type 2a [RCV000175096]|Multiple endocrine neoplasia, type 2b [RCV000014941]|Pheochromocytoma [RCV000014943]|RET-related condition [RCV003894803]|Thyroid carcinoma, sporadic medullary [RCV000014942]|Thyroid tumor [RCV000428538]|not provided [RCV000082054]|not specified [RCV000999916] | Chr10:43121968 [GRCh38] Chr10:43617416 [GRCh37] Chr10:10q11.21 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other |
NM_020975.6(RET):c.2690G>A (p.Arg897Gln) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000014946] | Chr10:43120163 [GRCh38] Chr10:43615611 [GRCh37] Chr10:10q11.21 |
risk factor |
NM_020975.6(RET):c.2914A>G (p.Arg972Gly) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000014947] | Chr10:43123783 [GRCh38] Chr10:43619231 [GRCh37] Chr10:10q11.21 |
risk factor |
NM_020975.6(RET):c.95C>T (p.Ser32Leu) | single nucleotide variant | Aganglionic megacolon [RCV000678742]|Hirschsprung disease, susceptibility to, 1 [RCV000014948]|Multiple endocrine neoplasia, type 2 [RCV002514098] | Chr10:43100480 [GRCh38] Chr10:43595928 [GRCh37] Chr10:10q11.21 |
likely pathogenic|risk factor |
NM_020975.6(RET):c.191C>T (p.Pro64Leu) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000014949]|Multiple endocrine neoplasia, type 2 [RCV003531901] | Chr10:43100576 [GRCh38] Chr10:43596024 [GRCh37] Chr10:10q11.21 |
risk factor|uncertain significance |
NM_020975.6(RET):c.538C>T (p.Arg180Ter) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000014950]|Multiple endocrine neoplasia, type 2 [RCV001206325]|RET-related condition [RCV003398512] | Chr10:43102542 [GRCh38] Chr10:43597990 [GRCh37] Chr10:10q11.21 |
pathogenic|risk factor |
NM_020975.6(RET):c.989G>A (p.Arg330Gln) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000014951]|Multiple endocrine neoplasia, type 2 [RCV001379274] | Chr10:43106497 [GRCh38] Chr10:43601945 [GRCh37] Chr10:10q11.21 |
likely pathogenic|risk factor |
NM_020975.6(RET):c.1179C>A (p.Phe393Leu) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000014952] | Chr10:43109146 [GRCh38] Chr10:43604594 [GRCh37] Chr10:10q11.21 |
risk factor |
NM_020975.6(RET):c.1859G>T (p.Cys620Phe) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002255999]|Multiple endocrine neoplasia, type 2 [RCV000233944]|Multiple endocrine neoplasia, type 2a [RCV000014953]|Multiple endocrine neoplasia, type 2b [RCV000411165]|not provided [RCV000485714]|not specified [RCV001001382] | Chr10:43113655 [GRCh38] Chr10:43609103 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.1852T>C (p.Cys618Arg) | single nucleotide variant | Familial medullary thyroid carcinoma [RCV000014954]|Hereditary cancer-predisposing syndrome [RCV002256000]|Medullary thyroid carcinoma [RCV000442341]|Multiple endocrine neoplasia type 4 [RCV000444839]|Multiple endocrine neoplasia, type 1 [RCV000434685]|Multiple endocrine neoplasia, type 2 [RCV000021792]|Multiple endocrine neoplasia, type 2a [RCV000114391]|Multiple endocrine neoplasia, type 2b [RCV000427260]|not provided [RCV000345209] | Chr10:43113648 [GRCh38] Chr10:43609096 [GRCh37] Chr10:10q11.21 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_020975.6(RET):c.2304G>C (p.Glu768Asp) | single nucleotide variant | Familial medullary thyroid carcinoma [RCV000014956]|Hepatocellular carcinoma [RCV002280861]|Hereditary cancer-predisposing syndrome [RCV001015022]|Medullary thyroid carcinoma [RCV000421871]|Multiple endocrine neoplasia type 4 [RCV000439063]|Multiple endocrine neoplasia, type 1 [RCV000445341]|Multiple endocrine neoplasia, type 2 [RCV000021842]|Multiple endocrine neoplasia, type 2a [RCV000432579]|Multiple endocrine neoplasia, type 2b [RCV000426010]|Neoplasm [RCV000431893]|not provided [RCV001811141] | Chr10:43118392 [GRCh38] Chr10:43613840 [GRCh37] Chr10:10q11.21 |
pathogenic|likely pathogenic |
NM_020975.6(RET):c.938G>A (p.Arg313Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000566081]|Hirschsprung disease, susceptibility to, 1 [RCV000014957]|Hirschsprung disease, susceptibility to, 1 [RCV002476968]|Multiple endocrine neoplasia, type 2 [RCV000654592]|Multiple endocrine neoplasia, type 2a [RCV000662693]|not provided [RCV003114192] | Chr10:43106446 [GRCh38] Chr10:43601894 [GRCh37] Chr10:10q11.21 |
risk factor|uncertain significance |
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) | single nucleotide variant | Familial medullary thyroid carcinoma [RCV000496009]|Familial medullary thyroid carcinoma [RCV000509116]|Hereditary cancer-predisposing syndrome [RCV000562113]|Hirschsprung disease, susceptibility to, 1 [RCV003460480]|MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE [RCV000014958]|Medullary thyroid carcinoma [RCV000431942]|Multiple endocrine neoplasia type 4 [RCV000444552]|Multiple endocrine neoplasia, type 1 [RCV000424503]|Multiple endocrine neoplasia, type 2 [RCV000168107]|Multiple endocrine neoplasia, type 2a [RCV000173889]|Multiple endocrine neoplasia, type 2b [RCV000441078]|RET-related condition [RCV003415703]|not provided [RCV000082049] | Chr10:43113622 [GRCh38] Chr10:43609070 [GRCh37] Chr10:10q11.21 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
NM_020975.6(RET):c.1860C>G (p.Cys620Trp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000566125]|MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE [RCV000014959]|Multiple endocrine neoplasia, type 2 [RCV000021789]|not provided [RCV002272020] | Chr10:43113656 [GRCh38] Chr10:43609104 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.2370G>C (p.Leu790Phe) | single nucleotide variant | Familial medullary thyroid carcinoma [RCV000014961]|Hereditary cancer-predisposing syndrome [RCV002453262]|Multiple endocrine neoplasia, type 2 [RCV000021849]|Multiple endocrine neoplasia, type 2a [RCV000014960]|not provided [RCV000182583] | Chr10:43118458 [GRCh38] Chr10:43613906 [GRCh37] Chr10:10q11.21 |
pathogenic|likely pathogenic |
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) | single nucleotide variant | Aganglionic megacolon [RCV000148769]|Familial cancer of breast [RCV000754613]|Familial medullary thyroid carcinoma [RCV000014962]|Hereditary cancer-predisposing syndrome [RCV000130367]|Hirschsprung disease, susceptibility to, 1 [RCV000312825]|Medullary thyroid carcinoma [RCV000419149]|Multiple endocrine neoplasia [RCV000370653]|Multiple endocrine neoplasia type 4 [RCV000426589]|Multiple endocrine neoplasia, type 1 [RCV000441584]|Multiple endocrine neoplasia, type 2 [RCV001083710]|Multiple endocrine neoplasia, type 2a [RCV000436831]|Multiple endocrine neoplasia, type 2b [RCV000431156]|Pheochromocytoma [RCV000014963]|Renal hypodysplasia/aplasia 1 [RCV000400976]|not provided [RCV000034771]|not specified [RCV000235206] | Chr10:43118460 [GRCh38] Chr10:43613908 [GRCh37] Chr10:10q11.21 |
pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records |
NM_020975.6(RET):c.692G>A (p.Arg231His) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000014964] | Chr10:43105018 [GRCh38] Chr10:43600466 [GRCh37] Chr10:10q11.21 |
risk factor |
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) | single nucleotide variant | Aganglionic megacolon [RCV000736279]|Breast-ovarian cancer, familial, susceptibility to, 1 [RCV001822995]|Familial medullary thyroid carcinoma [RCV000238890]|Hereditary cancer-predisposing syndrome [RCV000162949]|Hirschsprung disease, susceptibility to, 1 [RCV000014965]|Malignant tumor of breast [RCV001269493]|Multiple endocrine neoplasia [RCV000202663]|Multiple endocrine neoplasia, type 2 [RCV001080524]|Multiple endocrine neoplasia, type 2a [RCV000411820]|Multiple endocrine neoplasia, type 2b [RCV000410308]|Pheochromocytoma [RCV000320112]|Renal hypodysplasia/aplasia 1 [RCV000354936]|not provided [RCV000034774]|not specified [RCV000082055] | Chr10:43124887 [GRCh38] Chr10:43620335 [GRCh37] Chr10:10q11.21 |
risk factor|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.1941C>T (p.Ile647=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000220871]|Hirschsprung disease, susceptibility to, 1 [RCV000014966]|Multiple endocrine neoplasia, type 2 [RCV001085461]|Multiple endocrine neoplasia, type 2a [RCV000988344]|not provided [RCV000519499] | Chr10:43114541 [GRCh38] Chr10:43609989 [GRCh37] Chr10:10q11.21 |
risk factor|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.135= (p.Ala45=) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000014967]|Multiple endocrine neoplasia, type 2 [RCV001083341]|not provided [RCV000712294]|not specified [RCV000216697] | Chr10:43100520 [GRCh38] Chr10:43595968 [GRCh37] Chr10:10q11.21 |
risk factor|benign|not provided |
NM_020975.6(RET):c.1919C>G (p.Ala640Gly) | single nucleotide variant | Multiple endocrine neoplasia, type 2a [RCV000014969] | Chr10:43114519 [GRCh38] Chr10:43609967 [GRCh37] Chr10:10q11.21 |
pathogenic|uncertain significance |
NM_020975.6(RET):c.1859G>C (p.Cys620Ser) | single nucleotide variant | Familial medullary thyroid carcinoma [RCV000014970]|Hereditary cancer-predisposing syndrome [RCV001013426]|Multiple endocrine neoplasia, type 2 [RCV000021802]|not provided [RCV000489707] | Chr10:43113655 [GRCh38] Chr10:43609103 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.1825T>C (p.Cys609Arg) | single nucleotide variant | Aganglionic megacolon [RCV000736274]|Familial medullary thyroid carcinoma [RCV000014971]|Hereditary cancer-predisposing syndrome [RCV001013275]|Multiple endocrine neoplasia, type 2 [RCV001851862]|not provided [RCV000414355] | Chr10:43113621 [GRCh38] Chr10:43609069 [GRCh37] Chr10:10q11.21 |
pathogenic|likely pathogenic |
NM_020975.6(RET):c.2410G>T (p.Val804Leu) | single nucleotide variant | Familial medullary thyroid carcinoma [RCV000014973]|Familial medullary thyroid carcinoma [RCV000487450]|Hereditary cancer-predisposing syndrome [RCV000561258]|Multiple endocrine neoplasia, type 2 [RCV000021854]|Multiple endocrine neoplasia, type 2a [RCV000596480]|not provided [RCV000354366] | Chr10:43119548 [GRCh38] Chr10:43614996 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.341G>A (p.Arg114His) | single nucleotide variant | Congenital central hypoventilation [RCV000014974]|Hereditary cancer-predisposing syndrome [RCV000163885]|Hirschsprung disease, susceptibility to, 1 [RCV000490359]|Multiple endocrine neoplasia [RCV001106779]|Multiple endocrine neoplasia, type 2 [RCV000198261]|Multiple endocrine neoplasia, type 2b [RCV000755684]|Pheochromocytoma [RCV001107412]|Renal hypodysplasia/aplasia 1 [RCV001106778]|not provided [RCV003389668]|not specified [RCV000121988] | Chr10:43102345 [GRCh38] Chr10:43597793 [GRCh37] Chr10:10q11.21 |
pathogenic|benign|likely benign|uncertain significance|not provided |
NM_020975.6(RET):c.3116C>T (p.Pro1039Leu) | single nucleotide variant | Aganglionic megacolon [RCV000148783]|Hereditary cancer-predisposing syndrome [RCV000563865]|Hirschsprung disease, susceptibility to, 1 [RCV000014975]|Hirschsprung disease, susceptibility to, 1 [RCV002490367]|Multiple endocrine neoplasia, type 2 [RCV000704911]|Multiple endocrine neoplasia, type 2a [RCV000411688]|Multiple endocrine neoplasia, type 2b [RCV000410425]|not specified [RCV003398513] | Chr10:43126651 [GRCh38] Chr10:43622099 [GRCh37] Chr10:10q11.21 |
pathogenic|risk factor|likely benign|uncertain significance |
NM_020975.6(RET):c.1942G>A (p.Val648Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000163319]|Multiple endocrine neoplasia, type 2 [RCV001082776]|Multiple endocrine neoplasia, type 2a [RCV000014976]|not provided [RCV000034767]|not specified [RCV000442648] | Chr10:43114542 [GRCh38] Chr10:43609990 [GRCh37] Chr10:10q11.21 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.1597G>T (p.Gly533Cys) | single nucleotide variant | Familial medullary thyroid carcinoma [RCV000014977]|Hereditary cancer-predisposing syndrome [RCV001012358]|Multiple endocrine neoplasia, type 2 [RCV000469127]|Multiple endocrine neoplasia, type 2a [RCV003335040]|not provided [RCV000182579] | Chr10:43112173 [GRCh38] Chr10:43607621 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.2671T>G (p.Ser891Ala) | single nucleotide variant | Familial medullary thyroid carcinoma [RCV000014979]|Hereditary cancer-predisposing syndrome [RCV001016276]|Hirschsprung disease, susceptibility to, 1 [RCV002490368]|MEN2 phenotype: Unclassified [RCV001804732]|Medullary thyroid carcinoma [RCV000445273]|Medullary thyroid carcinoma [RCV003387503]|Multiple endocrine neoplasia type 4 [RCV000431535]|Multiple endocrine neoplasia, type 1 [RCV000441854]|Multiple endocrine neoplasia, type 2 [RCV000227193]|Multiple endocrine neoplasia, type 2a [RCV000014978]|Multiple endocrine neoplasia, type 2b [RCV000425892]|not provided [RCV000394478] | Chr10:43120144 [GRCh38] Chr10:43615592 [GRCh37] Chr10:10q11.21 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_020975.6(RET):c.73+9277T>C | single nucleotide variant | Aganglionic megacolon [RCV000627056]|Hirschsprung disease, susceptibility to, 1 [RCV000014980]|Multiple endocrine neoplasia, type 2 [RCV001515285]|not specified [RCV000611595] | Chr10:43086608 [GRCh38] Chr10:43582056 [GRCh37] Chr10:10q11.21 |
risk factor|benign |
NM_020975.6(RET):c.2735G>C (p.Arg912Pro) | single nucleotide variant | Familial medullary thyroid carcinoma [RCV000014981]|Hereditary cancer-predisposing syndrome [RCV002433464]|Multiple endocrine neoplasia, type 2 [RCV000021883] | Chr10:43121950 [GRCh38] Chr10:43617398 [GRCh37] Chr10:10q11.21 |
pathogenic|uncertain significance |
NM_020975.6(RET):c.2332G>A (p.Val778Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000562190]|Hirschsprung disease, susceptibility to, 1 [RCV001105833]|Multiple endocrine neoplasia [RCV001105834]|Multiple endocrine neoplasia, type 2 [RCV000206045]|Pheochromocytoma [RCV001108067]|Renal hypodysplasia/aplasia 1 [RCV000014983] | Chr10:43118420 [GRCh38] Chr10:43613868 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.592C>A (p.Pro198Thr) | single nucleotide variant | Renal hypodysplasia/aplasia 1 [RCV000014984] | Chr10:43102596 [GRCh38] Chr10:43598044 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020630.5(RET):c.-234_-230dup | microsatellite | Multiple endocrine neoplasia, type 2a [RCV000030400] | Chr10:43077010..43077011 [GRCh38] Chr10:43572458..43572459 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1264-55dup | duplication | Multiple endocrine neoplasia, type 2a [RCV000030401] | Chr10:43111150..43111151 [GRCh38] Chr10:43606598..43606599 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.166C>A (p.Leu56Met) | single nucleotide variant | Aganglionic megacolon [RCV000148768]|Hereditary cancer-predisposing syndrome [RCV000163266]|Hirschsprung disease, susceptibility to, 1 [RCV001108851]|Multiple endocrine neoplasia [RCV000202649]|Multiple endocrine neoplasia, type 2 [RCV001082759]|Multiple endocrine neoplasia, type 2a [RCV000030402]|Pheochromocytoma [RCV001108850]|Renal hypodysplasia/aplasia 1 [RCV001108849]|not provided [RCV000034766]|not specified [RCV000121985] | Chr10:43100551 [GRCh38] Chr10:43595999 [GRCh37] Chr10:10q11.21 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided |
NM_020975.6(RET):c.1880-2A>G | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000030404] | Chr10:43114478 [GRCh38] Chr10:43609926 [GRCh37] Chr10:10q11.21 |
likely pathogenic |
NM_020975.6(RET):c.2080C>T (p.Arg694Trp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000708755]|Multiple endocrine neoplasia, type 2 [RCV000698016]|Multiple endocrine neoplasia, type 2a [RCV000030406]|RET-related condition [RCV003390703]|not specified [RCV000770758] | Chr10:43114680 [GRCh38] Chr10:43610128 [GRCh37] Chr10:10q11.21 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.874G>A (p.Val292Met) | single nucleotide variant | Hereditary cancer [RCV003492298]|Hereditary cancer-predisposing syndrome [RCV000565970]|Hirschsprung disease, susceptibility to, 1 [RCV000333869]|Multiple endocrine neoplasia [RCV000367517]|Multiple endocrine neoplasia, type 2 [RCV001083006]|Multiple endocrine neoplasia, type 2b [RCV000755685]|Pheochromocytoma [RCV000276548]|Renal hypodysplasia/aplasia 1 [RCV000354891]|not provided [RCV000034779]|not specified [RCV000121992] | Chr10:43106382 [GRCh38] Chr10:43601830 [GRCh37] Chr10:10q11.21 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_020975.6(RET):c.961G>A (p.Gly321Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000567555]|Hirschsprung disease, susceptibility to, 1 [RCV003460487]|Medullary thyroid carcinoma [RCV000148776]|Multiple endocrine neoplasia, type 2 [RCV000231209]|Multiple endocrine neoplasia, type 2a [RCV000709104]|RET-related condition [RCV003389671]|not provided [RCV000679758]|not specified [RCV001818171] | Chr10:43106469 [GRCh38] Chr10:43601917 [GRCh37] Chr10:10q11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.1529C>T (p.Ala510Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000166168]|Multiple endocrine neoplasia, type 2 [RCV001083604]|Multiple endocrine neoplasia, type 2a [RCV000709114]|RET-related condition [RCV003891440]|not provided [RCV000679718] | Chr10:43112105 [GRCh38] Chr10:43607553 [GRCh37] Chr10:10q11.21 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.1531G>A (p.Glu511Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000561335]|Medullary thyroid carcinoma [RCV000148777]|Multiple endocrine neoplasia, type 2 [RCV000123299]|Multiple endocrine neoplasia, type 2a [RCV000411825]|Multiple endocrine neoplasia, type 2b [RCV000410289]|RET-related condition [RCV003398554]|not provided [RCV001310920]|not specified [RCV000454639] | Chr10:43112107 [GRCh38] Chr10:43607555 [GRCh37] Chr10:10q11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.1544_1545delinsCT (p.Cys515Ser) | indel | Multiple endocrine neoplasia, type 2 [RCV000021765] | Chr10:43112120..43112121 [GRCh38] Chr10:43607568..43607569 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.1591T>C (p.Cys531Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002399332]|Multiple endocrine neoplasia, type 2 [RCV000021766] | Chr10:43112167 [GRCh38] Chr10:43607615 [GRCh37] Chr10:10q11.21 |
pathogenic|uncertain significance |
NM_020630.4(RET):c.1585_1593dupGAGGAGTGT (p.Cys531_Gly532insGluGluCys) | duplication | Familial medullary thyroid carcinoma [RCV000021767] | Chr10:43112161..43112169 [GRCh38] Chr10:43607609..43607617 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.1597G>A (p.Gly533Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000573056]|Hirschsprung disease, susceptibility to, 1 [RCV001102550]|Multiple endocrine neoplasia [RCV001107801]|Multiple endocrine neoplasia, type 2 [RCV000465806]|Multiple endocrine neoplasia, type 2a [RCV000411509]|Multiple endocrine neoplasia, type 2b [RCV000409959]|Pheochromocytoma [RCV001102551]|Renal hypodysplasia/aplasia 1 [RCV001107802] | Chr10:43112173 [GRCh38] Chr10:43607621 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1831T>A (p.Cys611Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002412658]|Multiple endocrine neoplasia, type 2 [RCV003533237]|not provided [RCV003481306] | Chr10:43113627 [GRCh38] Chr10:43609075 [GRCh37] Chr10:10q11.21 |
pathogenic|likely pathogenic |
NM_020975.6(RET):c.1760-12G>A | single nucleotide variant | Hirschsprung Disease, Dominant [RCV000330417]|Multiple endocrine neoplasia [RCV000261911]|Multiple endocrine neoplasia, type 2 [RCV002054468]|Multiple endocrine neoplasia, type 2a [RCV000663117]|Pheochromocytoma [RCV000375196]|Renal hypodysplasia/aplasia 1 [RCV000315977]|not provided [RCV000679724] | Chr10:43113544 [GRCh38] Chr10:43608992 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1799G>A (p.Arg600Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001013217]|Multiple endocrine neoplasia, type 2 [RCV000161927]|not provided [RCV000727229] | Chr10:43113595 [GRCh38] Chr10:43609043 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1807A>C (p.Lys603Gln) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001906837] | Chr10:43113603 [GRCh38] Chr10:43609051 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1817A>G (p.Tyr606Cys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001013292]|Multiple endocrine neoplasia, type 2 [RCV003531905] | Chr10:43113613 [GRCh38] Chr10:43609061 [GRCh37] Chr10:10q11.21 |
likely pathogenic|uncertain significance |
NM_020975.6(RET):c.1825T>A (p.Cys609Ser) | single nucleotide variant | not specified [RCV000021775] | Chr10:43113621 [GRCh38] Chr10:43609069 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1825T>G (p.Cys609Gly) | single nucleotide variant | Multiple endocrine neoplasia, type 2a [RCV000021777] | Chr10:43113621 [GRCh38] Chr10:43609069 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.1826G>C (p.Cys609Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002258320]|Multiple endocrine neoplasia, type 2 [RCV001908064]|Multiple endocrine neoplasia, type 2a [RCV003316853] | Chr10:43113622 [GRCh38] Chr10:43609070 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.1826G>T (p.Cys609Phe) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002408486]|Multiple endocrine neoplasia, type 2 [RCV000533887]|not specified [RCV000506587] | Chr10:43113622 [GRCh38] Chr10:43609070 [GRCh37] Chr10:10q11.21 |
pathogenic|likely pathogenic |
NM_020975.6(RET):c.1827C>G (p.Cys609Trp) | single nucleotide variant | not provided [RCV003219010] | Chr10:43113623 [GRCh38] Chr10:43609071 [GRCh37] Chr10:10q11.21 |
pathogenic|likely pathogenic|uncertain significance |
NM_020975.6(RET):c.1831T>C (p.Cys611Arg) | single nucleotide variant | Aganglionic megacolon [RCV000736275]|Multiple endocrine neoplasia, type 2 [RCV000021782] | Chr10:43113627 [GRCh38] Chr10:43609075 [GRCh37] Chr10:10q11.21 |
pathogenic|likely pathogenic |
NM_020975.6(RET):c.1831T>G (p.Cys611Gly) | single nucleotide variant | not provided [RCV000506649] | Chr10:43113627 [GRCh38] Chr10:43609075 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.1832G>A (p.Cys611Tyr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000565237]|Multiple endocrine neoplasia, type 2 [RCV000021784]|not provided [RCV000412987] | Chr10:43113628 [GRCh38] Chr10:43609076 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.1832_1833delinsAT (p.Cys611Tyr) | indel | Multiple endocrine neoplasia, type 2 [RCV003062257] | Chr10:43113628..43113629 [GRCh38] Chr10:43609076..43609077 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020630.4(RET):c.1832G>C (p.Cys611Ser) | single nucleotide variant | MEN2 phenotype: Unknown [RCV000021786] | Chr10:43113628 [GRCh38] Chr10:43609076 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1832G>T (p.Cys611Phe) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002408472]|Multiple endocrine neoplasia, type 2 [RCV000021787]|Multiple endocrine neoplasia, type 2a [RCV003233027] | Chr10:43113628 [GRCh38] Chr10:43609076 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.1840GAG[2] (p.Glu616del) | microsatellite | Hereditary cancer-predisposing syndrome [RCV000570920]|Multiple endocrine neoplasia, type 2 [RCV001247073]|not specified [RCV000021790] | Chr10:43113636..43113638 [GRCh38] Chr10:43609084..43609086 [GRCh37] Chr10:10q11.21 |
benign|uncertain significance |
NM_020975.6(RET):c.1853G>A (p.Cys618Tyr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000163667]|Medullary thyroid carcinoma [RCV000423173]|Multiple endocrine neoplasia type 4 [RCV000434317]|Multiple endocrine neoplasia, type 1 [RCV000424049]|Multiple endocrine neoplasia, type 2 [RCV000475953]|Multiple endocrine neoplasia, type 2a [RCV000440162]|Multiple endocrine neoplasia, type 2b [RCV000429944]|not provided [RCV001565486] | Chr10:43113649 [GRCh38] Chr10:43609097 [GRCh37] Chr10:10q11.21 |
pathogenic|likely pathogenic |
NM_020975.6(RET):c.1853G>T (p.Cys618Phe) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000571381]|Multiple endocrine neoplasia, type 2 [RCV000548660]|not provided [RCV000255102] | Chr10:43113649 [GRCh38] Chr10:43609097 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.1854C>G (p.Cys618Trp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000021796] | Chr10:43113650 [GRCh38] Chr10:43609098 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020630.4(RET):c.1857C>T (p.Phe619=) | single nucleotide variant | MEN2 phenotype: Unknown [RCV000021797] | Chr10:43113653 [GRCh38] Chr10:43609101 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1858T>A (p.Cys620Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002408487]|Multiple endocrine neoplasia, type 2 [RCV000021798] | Chr10:43113654 [GRCh38] Chr10:43609102 [GRCh37] Chr10:10q11.21 |
pathogenic|likely pathogenic |
NM_020975.6(RET):c.1858T>G (p.Cys620Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000575015]|Multiple endocrine neoplasia, type 2 [RCV000824755]|Multiple endocrine neoplasia, type 2 [RCV002513160]|Multiple endocrine neoplasia, type 2a [RCV000709757]|not provided [RCV001703419]|not specified [RCV000507202] | Chr10:43113654 [GRCh38] Chr10:43609102 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.1867G>A (p.Glu623Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000575097]|Multiple endocrine neoplasia, type 2 [RCV001369787]|Multiple endocrine neoplasia, type 2a [RCV000988343]|not provided [RCV001762053] | Chr10:43113663 [GRCh38] Chr10:43609111 [GRCh37] Chr10:10q11.21 |
benign|likely benign|uncertain significance |
NM_020975.6(RET):c.1879+4A>G | single nucleotide variant | not specified [RCV000021805] | Chr10:43113679 [GRCh38] Chr10:43609127 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1888T>C (p.Cys630Arg) | single nucleotide variant | Medullary thyroid carcinoma [RCV000440788]|Multiple endocrine neoplasia type 4 [RCV000418588]|Multiple endocrine neoplasia, type 1 [RCV000429498]|Multiple endocrine neoplasia, type 2 [RCV000654593]|Multiple endocrine neoplasia, type 2a [RCV000436253]|Multiple endocrine neoplasia, type 2b [RCV000428845] | Chr10:43114488 [GRCh38] Chr10:43609936 [GRCh37] Chr10:10q11.21 |
pathogenic|likely pathogenic |
NM_020975.6(RET):c.1889G>A (p.Cys630Tyr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002408473]|Multiple endocrine neoplasia, type 2 [RCV000021807]|Multiple endocrine neoplasia, type 2a [RCV003315507] | Chr10:43114489 [GRCh38] Chr10:43609937 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.1889G>C (p.Cys630Ser) | single nucleotide variant | not specified [RCV000021808] | Chr10:43114489 [GRCh38] Chr10:43609937 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1889G>T (p.Cys630Phe) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000021809] | Chr10:43114489 [GRCh38] Chr10:43609937 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020630.4(RET):c.1891_1893delGAC (p.Asp631del) | deletion | Multiple endocrine neoplasia, type 2a [RCV000021810] | Chr10:43114491..43114493 [GRCh38] Chr10:43609939..43609941 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.1891G>A (p.Asp631Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000564566]|Hirschsprung disease, susceptibility to, 1 [RCV002477000]|Hirschsprung disease, susceptibility to, 1 [RCV003460488]|Multiple endocrine neoplasia, type 2 [RCV000696792]|not provided [RCV000519407]|not specified [RCV001818172] | Chr10:43114491 [GRCh38] Chr10:43609939 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1891G>T (p.Asp631Tyr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000219970]|Multiple endocrine neoplasia, type 2 [RCV002513161] | Chr10:43114491 [GRCh38] Chr10:43609939 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020630.4(RET):c.1892A>C (p.Asp631Ala) | single nucleotide variant | MEN2 phenotype: Unknown [RCV000021813] | Chr10:43114492 [GRCh38] Chr10:43609940 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1892A>G (p.Asp631Gly) | single nucleotide variant | Medullary thyroid carcinoma [RCV000431229] | Chr10:43114492 [GRCh38] Chr10:43609940 [GRCh37] Chr10:10q11.21 |
likely pathogenic|uncertain significance |
NM_020975.6(RET):c.1892A>T (p.Asp631Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001362386] | Chr10:43114492 [GRCh38] Chr10:43609940 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1893C>A (p.Asp631Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002406503]|Hirschsprung disease, susceptibility to, 1 [RCV003459564]|Multiple endocrine neoplasia, type 2 [RCV000693624]|not specified [RCV003987652] | Chr10:43114493 [GRCh38] Chr10:43609941 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1893C>T (p.Asp631=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000567099]|Multiple endocrine neoplasia, type 2 [RCV000231749]|Multiple endocrine neoplasia, type 2a [RCV000663255]|not provided [RCV003415727]|not specified [RCV000431175] | Chr10:43114493 [GRCh38] Chr10:43609941 [GRCh37] Chr10:10q11.21 |
benign|likely benign|uncertain significance |
NM_020975.6(RET):c.1894G>A (p.Glu632Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000708754]|Multiple endocrine neoplasia, type 2 [RCV000526155]|Multiple endocrine neoplasia, type 2a [RCV000411403]|Multiple endocrine neoplasia, type 2b [RCV000409907]|not provided [RCV001811195] | Chr10:43114494 [GRCh38] Chr10:43609942 [GRCh37] Chr10:10q11.21 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.1896_1900delinsCGTGC (p.Glu632_Cys634delinsAspValArg) | indel | Multiple endocrine neoplasia, type 2 [RCV000021819] | Chr10:43114496..43114500 [GRCh38] Chr10:43609944..43609948 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.1900T>A (p.Cys634Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002408488]|Multiple endocrine neoplasia, type 2 [RCV000021820] | Chr10:43114500 [GRCh38] Chr10:43609948 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.1901_1902delinsTG (p.Cys634Leu) | indel | Multiple endocrine neoplasia, type 2a [RCV000021826] | Chr10:43114501..43114502 [GRCh38] Chr10:43609949..43609950 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020630.4(RET):c.1903C>G (p.Arg635Gly) | single nucleotide variant | MEN2 phenotype: Unknown [RCV000021828] | Chr10:43114503 [GRCh38] Chr10:43609951 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020630.4(RET):c.1892_1903dupACGAGCTGTGCC (p.Cys634_Arg635insHisGluLeuCys) | duplication | Multiple endocrine neoplasia, type 2a [RCV000021829] | Chr10:43114492..43114503 [GRCh38] Chr10:43609940..43609951 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.1906delinsGACCTGTGCCGCC (p.Thr636delinsAspLeuCysArgPro) | indel | Multiple endocrine neoplasia, type 2 [RCV000021830] | Chr10:43114506 [GRCh38] Chr10:43609954 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.1900_1908dup (p.Cys634_Thr636dup) | duplication | Multiple endocrine neoplasia, type 2a [RCV000021831] | Chr10:43114498..43114499 [GRCh38] Chr10:43609946..43609947 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.1921G>T (p.Ala641Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001349992]|RET-related condition [RCV003945694] | Chr10:43114521 [GRCh38] Chr10:43609969 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) | single nucleotide variant | Appendicitis [RCV001533539]|Elevated basal serum calcitonin [RCV000148770]|Hereditary cancer-predisposing syndrome [RCV000163375]|Hirschsprung disease, susceptibility to, 1 [RCV001104572]|Multiple endocrine neoplasia [RCV001104574]|Multiple endocrine neoplasia, type 2 [RCV001082257]|Multiple endocrine neoplasia, type 2a [RCV000663272]|Pheochromocytoma [RCV001104573]|Renal hypodysplasia/aplasia 1 [RCV001104575]|not provided [RCV000224141]|not specified [RCV000121978] | Chr10:43114546 [GRCh38] Chr10:43609994 [GRCh37] Chr10:10q11.21 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_020975.6(RET):c.1947G>A (p.Ser649=) | single nucleotide variant | Congenital central hypoventilation [RCV000762808]|Hereditary cancer-predisposing syndrome [RCV002408474]|Hirschsprung disease, susceptibility to, 1 [RCV001353180]|Multiple endocrine neoplasia, type 2 [RCV000821103]|not provided [RCV000498649] | Chr10:43114547 [GRCh38] Chr10:43609995 [GRCh37] Chr10:10q11.21 |
pathogenic|likely pathogenic|uncertain significance |
NM_020975.6(RET):c.1995C>G (p.His665Gln) | single nucleotide variant | not provided [RCV003236221] | Chr10:43114595 [GRCh38] Chr10:43610043 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000567780]|Hirschsprung disease, susceptibility to, 1 [RCV002466411]|Hirschsprung disease, susceptibility to, 1 [RCV002496436]|Medullary thyroid carcinoma [RCV000148771]|Multiple endocrine neoplasia, type 2 [RCV000021838]|not provided [RCV001582493] | Chr10:43114596 [GRCh38] Chr10:43610044 [GRCh37] Chr10:10q11.21 |
pathogenic|likely pathogenic|likely benign |
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) | single nucleotide variant | Familial medullary thyroid carcinoma [RCV001027731]|Familial medullary thyroid carcinoma [RCV001818173]|Hereditary cancer-predisposing syndrome [RCV000570730]|Hirschsprung disease, susceptibility to, 1 [RCV001535750]|Hirschsprung disease, susceptibility to, 1 [RCV002477001]|Hirschsprung disease, susceptibility to, 1 [RCV003460489]|Multiple endocrine neoplasia, type 2 [RCV000467461]|Multiple endocrine neoplasia, type 2a [RCV000174156]|Pheochromocytoma [RCV003458339]|RET-related disorders [RCV003335051]|not provided [RCV000082052] | Chr10:43114598 [GRCh38] Chr10:43610046 [GRCh37] Chr10:10q11.21 |
pathogenic|likely pathogenic|likely benign|uncertain significance|not provided |
NM_020975.6(RET):c.1998delinsTTCT (p.Lys666delinsAsnSer) | indel | Multiple endocrine neoplasia, type 2 [RCV002572537] | Chr10:43114598 [GRCh38] Chr10:43610046 [GRCh37] Chr10:10q11.21 |
pathogenic|likely pathogenic |
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000162947]|Hirschsprung disease, susceptibility to, 1 [RCV000340996]|Multiple endocrine neoplasia [RCV000385080]|Multiple endocrine neoplasia, type 2 [RCV001083339]|Multiple endocrine neoplasia, type 2a [RCV000660243]|Multiple endocrine neoplasia, type 2b [RCV003315508]|Pheochromocytoma [RCV000376859]|Renal hypodysplasia/aplasia 1 [RCV000290703]|not provided [RCV000034769]|not specified [RCV000039052] | Chr10:43114671 [GRCh38] Chr10:43610119 [GRCh37] Chr10:10q11.21 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.2307= (p.Leu769=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001082520]|not provided [RCV000712295]|not specified [RCV000154625] | Chr10:43118395 [GRCh38] Chr10:43613843 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.2309G>A (p.Arg770Gln) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001041258] | Chr10:43118397 [GRCh38] Chr10:43613845 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2330A>G (p.Asn777Ser) | single nucleotide variant | Appendicitis [RCV001289997]|Familial medullary thyroid carcinoma [RCV002225073]|Multiple endocrine neoplasia, type 2 [RCV001351342]|Multiple endocrine neoplasia, type 2a [RCV000709121] | Chr10:43118418 [GRCh38] Chr10:43613866 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2342A>G (p.Gln781Arg) | single nucleotide variant | Hereditary cancer [RCV003492299]|Hereditary cancer-predisposing syndrome [RCV002444437]|Multiple endocrine neoplasia, type 2 [RCV000232536]|not provided [RCV002477002]|not specified [RCV003321484] | Chr10:43118430 [GRCh38] Chr10:43613878 [GRCh37] Chr10:10q11.21 |
pathogenic|benign|likely benign|uncertain significance |
NM_020975.6(RET):c.2371T>A (p.Tyr791Asn) | single nucleotide variant | Congenital central hypoventilation [RCV000764900]|Hereditary cancer-predisposing syndrome [RCV000566113]|Hirschsprung disease, susceptibility to, 1 [RCV003466868]|Multiple endocrine neoplasia, type 2 [RCV000457504]|Multiple endocrine neoplasia, type 2a [RCV000409436]|Multiple endocrine neoplasia, type 2b [RCV000411890]|not specified [RCV001818174] | Chr10:43118459 [GRCh38] Chr10:43613907 [GRCh37] Chr10:10q11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.2410G>A (p.Val804Met) | single nucleotide variant | Congenital central hypoventilation [RCV000515232]|Familial medullary thyroid carcinoma [RCV001804750]|Hereditary cancer-predisposing syndrome [RCV000210181]|Hirschsprung disease, susceptibility to, 1 [RCV003460494]|MEN2 phenotype: Unclassified [RCV000586783]|Multiple endocrine neoplasia, type 2 [RCV000148773]|Multiple endocrine neoplasia, type 2a [RCV000499191]|Ovarian cancer [RCV003153308]|RET-related condition [RCV003891450]|RET-related disease [RCV003458341]|not provided [RCV000182584] | Chr10:43119548 [GRCh38] Chr10:43614996 [GRCh37] Chr10:10q11.21 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_020975.6(RET):c.2410G>C (p.Val804Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002453279]|MEN2 phenotype: Unclassified [RCV003226171]|Medullary thyroid carcinoma [RCV000436948]|Multiple endocrine neoplasia type 4 [RCV000437130]|Multiple endocrine neoplasia, type 1 [RCV000419916]|Multiple endocrine neoplasia, type 2 [RCV000021853]|Multiple endocrine neoplasia, type 2a [RCV000426266]|Multiple endocrine neoplasia, type 2b [RCV000425568]|not provided [RCV000479688] | Chr10:43119548 [GRCh38] Chr10:43614996 [GRCh37] Chr10:10q11.21 |
pathogenic|likely pathogenic |
NM_020630.4(RET):c.2413G>A (p.Glu805Lys) | single nucleotide variant | MEN2 phenotype: Unknown [RCV000021855] | Chr10:43119551 [GRCh38] Chr10:43614999 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2417A>G (p.Tyr806Cys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000798052] | Chr10:43119555 [GRCh38] Chr10:43615003 [GRCh37] Chr10:10q11.21 |
benign|uncertain significance |
NM_020975.6(RET):c.2452G>A (p.Glu818Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000571277]|Hirschsprung disease, susceptibility to, 1 [RCV002490401]|Hirschsprung disease, susceptibility to, 1 [RCV003460490]|Medullary thyroid carcinoma [RCV000148782]|Multiple endocrine neoplasia, type 2 [RCV000799360]|Multiple endocrine neoplasia, type 2a [RCV000411157]|Multiple endocrine neoplasia, type 2b [RCV000410539] | Chr10:43119590 [GRCh38] Chr10:43615038 [GRCh37] Chr10:10q11.21 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_020630.4(RET):c.2456G>T (p.Ser819Ile) | single nucleotide variant | MEN2 phenotype: Unknown [RCV000021858] | Chr10:43119594 [GRCh38] Chr10:43615042 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2497C>T (p.Arg833Cys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000567481]|Multiple endocrine neoplasia, type 2 [RCV000529442]|Multiple endocrine neoplasia, type 2a [RCV000662806]|not provided [RCV000478761] | Chr10:43119635 [GRCh38] Chr10:43615083 [GRCh37] Chr10:10q11.21 |
likely pathogenic|likely benign|uncertain significance |
NM_020975.6(RET):c.2508C>T (p.Ser836=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001015789]|Hirschsprung disease, susceptibility to, 1 [RCV000264509]|Multiple endocrine neoplasia [RCV000203081]|Multiple endocrine neoplasia, type 2 [RCV001080523]|Multiple endocrine neoplasia, type 2b [RCV003315509]|Pheochromocytoma [RCV000327711]|Renal hypodysplasia/aplasia 1 [RCV000359214]|not provided [RCV000712296]|not specified [RCV000151741] | Chr10:43119646 [GRCh38] Chr10:43615094 [GRCh37] Chr10:10q11.21 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_020975.6(RET):c.2522C>T (p.Pro841Leu) | single nucleotide variant | Aganglionic megacolon [RCV000148778]|Hereditary cancer-predisposing syndrome [RCV000575365]|Hirschsprung disease, susceptibility to, 1 [RCV001535741]|Hirschsprung disease, susceptibility to, 1 [RCV002477003]|Multiple endocrine neoplasia, type 2 [RCV000691895]|Multiple endocrine neoplasia, type 2a [RCV000662511]|not provided [RCV000782197]|not specified [RCV001818175] | Chr10:43119660 [GRCh38] Chr10:43615108 [GRCh37] Chr10:10q11.21 |
benign|uncertain significance|not provided |
NM_020975.6(RET):c.2523G>A (p.Pro841=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000561411]|Multiple endocrine neoplasia, type 2 [RCV000197424]|Multiple endocrine neoplasia, type 2a [RCV000663049]|RET-related condition [RCV003952370]|not provided [RCV002225268] | Chr10:43119661 [GRCh38] Chr10:43615109 [GRCh37] Chr10:10q11.21 |
benign|likely benign|uncertain significance |
NM_020630.4(RET):c.2529G>T (p.Glu843Asp) | single nucleotide variant | MEN2 phenotype: Unknown [RCV000021863] | Chr10:43119667 [GRCh38] Chr10:43615115 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2530C>T (p.Arg844Trp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001015858]|Hirschsprung disease, susceptibility to, 1 [RCV002482896]|Hirschsprung disease, susceptibility to, 1 [RCV003460491]|Multiple endocrine neoplasia, type 2 [RCV000456854]|Multiple endocrine neoplasia, type 2a [RCV000662786]|not provided [RCV001588822] | Chr10:43119668 [GRCh38] Chr10:43615116 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2531G>A (p.Arg844Gln) | single nucleotide variant | Familial medullary thyroid carcinoma [RCV001292765]|Hereditary cancer-predisposing syndrome [RCV000575953]|Hirschsprung disease, susceptibility to, 1 [RCV003466869]|Multiple endocrine neoplasia, type 2 [RCV000205855]|Multiple endocrine neoplasia, type 2a [RCV000662363]|not provided [RCV001574570] | Chr10:43119669 [GRCh38] Chr10:43615117 [GRCh37] Chr10:10q11.21 |
benign|uncertain significance |
NM_020975.6(RET):c.2531G>T (p.Arg844Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002426514]|Multiple endocrine neoplasia, type 2 [RCV000460812]|Multiple endocrine neoplasia, type 2a [RCV000410406]|Multiple endocrine neoplasia, type 2b [RCV000409297] | Chr10:43119669 [GRCh38] Chr10:43615117 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2535C>T (p.Ala845=) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV002496437]|Multiple endocrine neoplasia, type 2 [RCV001490472] | Chr10:43119673 [GRCh38] Chr10:43615121 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.2543T>C (p.Met848Thr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003534270] | Chr10:43119681 [GRCh38] Chr10:43615129 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2556C>G (p.Ile852Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000566408]|Hirschsprung disease, susceptibility to, 1 [RCV003466870]|Multiple endocrine neoplasia, type 2 [RCV000204335]|Multiple endocrine neoplasia, type 2a [RCV000662415]|Multiple endocrine neoplasia, type 2b [RCV000755693]|RET-related condition [RCV003924853]|not provided [RCV001354419]|not specified [RCV001818176] | Chr10:43119694 [GRCh38] Chr10:43615142 [GRCh37] Chr10:10q11.21 |
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.2608-24G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001510395]|Multiple endocrine neoplasia, type 2b [RCV003315510]|not provided [RCV001711084]|not specified [RCV000082053] | Chr10:43120057 [GRCh38] Chr10:43615505 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.2641C>G (p.Leu881Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000569942]|Multiple endocrine neoplasia, type 2 [RCV000466832]|Multiple endocrine neoplasia, type 2a [RCV000410921]|Multiple endocrine neoplasia, type 2b [RCV000410267]|not provided [RCV001753425] | Chr10:43120114 [GRCh38] Chr10:43615562 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2647G>A (p.Ala883Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002426515]|Multiple endocrine neoplasia, type 2 [RCV000664393] | Chr10:43120120 [GRCh38] Chr10:43615568 [GRCh37] Chr10:10q11.21 |
pathogenic|uncertain significance |
NM_020975.6(RET):c.2647_2648delinsTT (p.Ala883Phe) | indel | Hereditary cancer-predisposing syndrome [RCV003298037]|Medullary thyroid carcinoma [RCV000422001]|Multiple endocrine neoplasia type 4 [RCV000445104]|Multiple endocrine neoplasia, type 1 [RCV000426500]|Multiple endocrine neoplasia, type 2 [RCV002514127]|Multiple endocrine neoplasia, type 2a [RCV000433892]|Multiple endocrine neoplasia, type 2b [RCV000021873] | Chr10:43120120..43120121 [GRCh38] Chr10:43615568..43615569 [GRCh37] Chr10:10q11.21 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_020975.6(RET):c.2656C>T (p.Arg886Trp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002453266]|Medullary thyroid carcinoma [RCV000148785]|Multiple endocrine neoplasia, type 2 [RCV000654561]|Renal hypoplasia/aplasia [RCV001281276]|not provided [RCV000679734] | Chr10:43120129 [GRCh38] Chr10:43615577 [GRCh37] Chr10:10q11.21 |
likely pathogenic|uncertain significance |
NM_020975.6(RET):c.2673G>A (p.Ser891=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000563464]|Hirschsprung disease, susceptibility to, 1 [RCV002496438]|Multiple endocrine neoplasia, type 2 [RCV001080085]|not provided [RCV000679735]|not specified [RCV000614058] | Chr10:43120146 [GRCh38] Chr10:43615594 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.2711C>G (p.Ser904Cys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001851991]|not specified [RCV002468975] | Chr10:43120184 [GRCh38] Chr10:43615632 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2711C>T (p.Ser904Phe) | single nucleotide variant | Multiple endocrine neoplasia, type 2a [RCV001267835]|not provided [RCV000757722] | Chr10:43120184 [GRCh38] Chr10:43615632 [GRCh37] Chr10:10q11.21 |
pathogenic|likely pathogenic |
NM_020975.6(RET):c.2712C>G (p.Ser904=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000162948]|Hirschsprung disease, susceptibility to, 1 [RCV000296421]|Multiple endocrine neoplasia [RCV000349734]|Multiple endocrine neoplasia, type 2 [RCV001083340]|Multiple endocrine neoplasia, type 2a [RCV002466412]|Multiple endocrine neoplasia, type 2b [RCV003315511]|Pheochromocytoma [RCV000398445]|Renal hypodysplasia/aplasia 1 [RCV000280812]|not provided [RCV000712297]|not specified [RCV000039053] | Chr10:43120185 [GRCh38] Chr10:43615633 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.2719A>G (p.Lys907Glu) | single nucleotide variant | not specified [RCV000021880] | Chr10:43120192 [GRCh38] Chr10:43615640 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2720A>T (p.Lys907Met) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001906841] | Chr10:43120193 [GRCh38] Chr10:43615641 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2735G>A (p.Arg912Gln) | single nucleotide variant | not specified [RCV000021882] | Chr10:43121950 [GRCh38] Chr10:43617398 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2765C>A (p.Ser922Tyr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002433465]|Multiple endocrine neoplasia, type 2 [RCV003764617]|Multiple endocrine neoplasia, type 2a [RCV000988348] | Chr10:43121980 [GRCh38] Chr10:43617428 [GRCh37] Chr10:10q11.21 |
benign|uncertain significance |
NM_020975.6(RET):c.1013C>T (p.Thr338Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000570795]|Multiple endocrine neoplasia, type 2 [RCV001046577]|Multiple endocrine neoplasia, type 2a [RCV000709106]|Multiple endocrine neoplasia, type 2b [RCV001262456] | Chr10:43106521 [GRCh38] Chr10:43601969 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1832_1833delinsCT (p.Cys611Ser) | indel | Multiple endocrine neoplasia, type 2 [RCV000032028] | Chr10:43113628..43113629 [GRCh38] Chr10:43609076..43609077 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.1832_1833delinsTT (p.Cys611Phe) | indel | Multiple endocrine neoplasia, type 2 [RCV000032029] | Chr10:43113628..43113629 [GRCh38] Chr10:43609076..43609077 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.1997A>T (p.Lys666Met) | single nucleotide variant | not specified [RCV000032034] | Chr10:43114597 [GRCh38] Chr10:43610045 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2098A>T (p.Met700Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002811717] | Chr10:43114698 [GRCh38] Chr10:43610146 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2304G>T (p.Glu768Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002426530]|MEN2 phenotype: Unclassified [RCV002307370]|Multiple endocrine neoplasia, type 2 [RCV000032037]|Multiple endocrine neoplasia, type 2a [RCV000411546]|Multiple endocrine neoplasia, type 2b [RCV000410061] | Chr10:43118392 [GRCh38] Chr10:43613840 [GRCh37] Chr10:10q11.21 |
pathogenic|likely pathogenic |
NM_020975.6(RET):c.2370G>T (p.Leu790Phe) | single nucleotide variant | Familial medullary thyroid carcinoma [RCV000984325]|Hereditary cancer-predisposing syndrome [RCV000163610]|Hirschsprung disease, susceptibility to, 1 [RCV003466882]|Hirschsprung disease, susceptibility to, 1 [RCV003483444]|Multiple endocrine neoplasia, type 2 [RCV000539138]|Multiple endocrine neoplasia, type 2a [RCV000709758]|not provided [RCV000339507] | Chr10:43118458 [GRCh38] Chr10:43613906 [GRCh37] Chr10:10q11.21 |
pathogenic|conflicting interpretations of pathogenicity|not provided |
NM_020975.6(RET):c.2752A>G (p.Met918Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002433481]|Multiple endocrine neoplasia, type 2 [RCV000032039]|Multiple endocrine neoplasia, type 2a [RCV003315527]|not provided [RCV003318546] | Chr10:43121967 [GRCh38] Chr10:43617415 [GRCh37] Chr10:10q11.21 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.1852T>A (p.Cys618Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000569893]|Multiple endocrine neoplasia, type 2 [RCV000032040]|Multiple endocrine neoplasia, type 2a [RCV003233028]|RET-related condition [RCV003914885]|not provided [RCV000182594] | Chr10:43113648 [GRCh38] Chr10:43609096 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020630.4:c.*750+d611T>C | single nucleotide variant | not provided [RCV000034765] | Chr10:10q11.21 | uncertain significance |
NM_020975.6(RET):c.200G>A (p.Arg67His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000563975]|Hirschsprung disease, susceptibility to, 1 [RCV000271726]|Multiple endocrine neoplasia [RCV000311573]|Multiple endocrine neoplasia, type 2 [RCV001080638]|Multiple endocrine neoplasia, type 2a [RCV002307371]|Pheochromocytoma [RCV000393823]|Renal hypodysplasia/aplasia 1 [RCV000368621]|not provided [RCV000034768]|not specified [RCV000121986] | Chr10:43100585 [GRCh38] Chr10:43596033 [GRCh37] Chr10:10q11.21 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_020975.6(RET):c.2288A>T (p.Asn763Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000564342]|Multiple endocrine neoplasia, type 2 [RCV001064605]|not provided [RCV000034770] | Chr10:43118376 [GRCh38] Chr10:43613824 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2543T>A (p.Met848Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001015867]|Multiple endocrine neoplasia, type 2 [RCV000698313]|Multiple endocrine neoplasia, type 2a [RCV000663125]|not provided [RCV000034772] | Chr10:43119681 [GRCh38] Chr10:43615129 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2611G>A (p.Val871Ile) | single nucleotide variant | Congenital central hypoventilation [RCV000763649]|Hereditary cancer-predisposing syndrome [RCV000562304]|Hirschsprung disease, susceptibility to, 1 [RCV002477060]|Multiple endocrine neoplasia, type 2 [RCV000123312]|Multiple endocrine neoplasia, type 2a [RCV000410572]|Multiple endocrine neoplasia, type 2b [RCV000409480]|not provided [RCV000034773]|not specified [RCV003387739] | Chr10:43120084 [GRCh38] Chr10:43615532 [GRCh37] Chr10:10q11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.2982A>C (p.Lys994Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000568654]|Hirschsprung disease, susceptibility to, 1 [RCV001104860]|Hirschsprung disease, susceptibility to, 1 [RCV002477061]|Multiple endocrine neoplasia [RCV001104857]|Multiple endocrine neoplasia, type 2 [RCV000458385]|Multiple endocrine neoplasia, type 2a [RCV000409131]|Multiple endocrine neoplasia, type 2b [RCV000411986]|Pheochromocytoma [RCV001104859]|Renal hypodysplasia/aplasia 1 [RCV001104858]|not provided [RCV000034775] | Chr10:43124925 [GRCh38] Chr10:43620373 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.509C>T (p.Thr170Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001023532]|Multiple endocrine neoplasia, type 2 [RCV000701145]|Multiple endocrine neoplasia, type 2a [RCV000411681]|Multiple endocrine neoplasia, type 2b [RCV000410582]|not provided [RCV000034776] | Chr10:43102513 [GRCh38] Chr10:43597961 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.785T>C (p.Val262Ala) | single nucleotide variant | Aganglionic megacolon [RCV000148775]|Hereditary cancer-predisposing syndrome [RCV000573525]|Hirschsprung disease, susceptibility to, 1 [RCV001103896]|Malignant tumor of breast [RCV001269367]|Multiple endocrine neoplasia [RCV001104177]|Multiple endocrine neoplasia, type 2 [RCV000123327]|Multiple endocrine neoplasia, type 2a [RCV000663296]|Pheochromocytoma [RCV001103897]|RET-related condition [RCV003891475]|Renal hypodysplasia/aplasia 1 [RCV001103898]|not provided [RCV000034777]|not specified [RCV000223157] | Chr10:43105111 [GRCh38] Chr10:43600559 [GRCh37] Chr10:10q11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.833C>A (p.Thr278Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000163444]|Hirschsprung disease, susceptibility to, 1 [RCV000490442]|Multiple endocrine neoplasia [RCV001104180]|Multiple endocrine neoplasia, type 2 [RCV001083124]|Multiple endocrine neoplasia, type 2a [RCV000988341]|Pheochromocytoma [RCV001104178]|Renal hypodysplasia/aplasia 1 [RCV001104179]|not provided [RCV000034778]|not specified [RCV000121990] | Chr10:43105159 [GRCh38] Chr10:43600607 [GRCh37] Chr10:10q11.21 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
GRCh38/hg38 10q11.21-21.2(chr10:42335305-60284876)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052506]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052506]|See cases [RCV000052506] | Chr10:42335305..60284876 [GRCh38] Chr10:42830753..62044634 [GRCh37] Chr10:42150759..61714640 [NCBI36] Chr10:10q11.21-21.2 |
pathogenic |
NM_020975.6(RET):c.351C>T (p.Pro117=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001020506]|Multiple endocrine neoplasia, type 2 [RCV000476083]|RET-related condition [RCV003974949] | Chr10:43102355 [GRCh38] Chr10:43597803 [GRCh37] Chr10:42917809 [NCBI36] Chr10:10q11.21 |
likely benign|not provided |
NM_020975.6(RET):c.1296A>G (p.Ala432=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000131068]|Hirschsprung disease, susceptibility to, 1 [RCV000285939]|Multiple endocrine neoplasia [RCV000265973]|Multiple endocrine neoplasia, type 2 [RCV000548337]|Multiple endocrine neoplasia, type 2a [RCV001795149]|Multiple endocrine neoplasia, type 2b [RCV001795150]|Pheochromocytoma [RCV000321087]|Renal hypodysplasia/aplasia 1 [RCV000380264]|not provided [RCV001811384]|not specified [RCV000082048] | Chr10:43111239 [GRCh38] Chr10:43606687 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.337+9G>A | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002453407]|Hirschsprung disease, susceptibility to, 1 [RCV000294618]|Multiple endocrine neoplasia [RCV000282670]|Multiple endocrine neoplasia, type 2 [RCV000860141]|Multiple endocrine neoplasia, type 2a [RCV002466424]|Multiple endocrine neoplasia, type 2b [RCV003315607]|Pheochromocytoma [RCV000372689]|Renal hypodysplasia/aplasia 1 [RCV000334351]|not provided [RCV001610381]|not specified [RCV000082056] | Chr10:43100731 [GRCh38] Chr10:43596179 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.375C>A (p.Val125=) | single nucleotide variant | Aganglionic megacolon [RCV000736271]|Hereditary cancer-predisposing syndrome [RCV000163272]|Hirschsprung disease, susceptibility to, 1 [RCV000307088]|Multiple endocrine neoplasia [RCV000407158]|Multiple endocrine neoplasia, type 2 [RCV001082716]|Multiple endocrine neoplasia, type 2b [RCV003315608]|Pheochromocytoma [RCV000267055]|Renal hypodysplasia/aplasia 1 [RCV000364069]|not provided [RCV000712298]|not specified [RCV000082057] | Chr10:43102379 [GRCh38] Chr10:43597827 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.867+4del | deletion | Aganglionic megacolon [RCV000678745]|Hereditary cancer-predisposing syndrome [RCV000563030]|Multiple endocrine neoplasia, type 2 [RCV000550028]|not provided [RCV000082058] | Chr10:43105197 [GRCh38] Chr10:43600645 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1702G>A (p.Gly568Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000564831]|Hirschsprung disease, susceptibility to, 1 [RCV002477302]|Multiple endocrine neoplasia, type 2 [RCV000119225]|Multiple endocrine neoplasia, type 2a [RCV000662493]|not provided [RCV000355156] | Chr10:43112906 [GRCh38] Chr10:43608354 [GRCh37] Chr10:10q11.21 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.1095G>A (p.Ser365=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000570175]|Multiple endocrine neoplasia, type 2 [RCV000123289]|Multiple endocrine neoplasia, type 2a [RCV000412429]|Multiple endocrine neoplasia, type 2b [RCV000410870] | Chr10:43109062 [GRCh38] Chr10:43604510 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1158G>A (p.Ala386=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000162962]|Hirschsprung disease, susceptibility to, 1 [RCV001104294]|Multiple endocrine neoplasia [RCV001104295]|Multiple endocrine neoplasia, type 2 [RCV001082022]|Multiple endocrine neoplasia, type 2a [RCV000988342]|Pheochromocytoma [RCV001104296]|Renal hypodysplasia/aplasia 1 [RCV001107047]|not provided [RCV000123291]|not specified [RCV000610981] | Chr10:43109125 [GRCh38] Chr10:43604573 [GRCh37] Chr10:10q11.21 |
benign|likely benign|uncertain significance |
NM_020975.6(RET):c.1182C>T (p.Asn394=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000565850]|Hirschsprung disease, susceptibility to, 1 [RCV002492443]|Multiple endocrine neoplasia, type 2 [RCV000123292]|Multiple endocrine neoplasia, type 2a [RCV000409399]|Multiple endocrine neoplasia, type 2b [RCV000411914] | Chr10:43109149 [GRCh38] Chr10:43604597 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1264-4C>T | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000163859]|Multiple endocrine neoplasia, type 2 [RCV000123293]|Multiple endocrine neoplasia, type 2a [RCV000409285]|Multiple endocrine neoplasia, type 2b [RCV000411309]|RET-related condition [RCV003905181]|not provided [RCV001725980] | Chr10:43111203 [GRCh38] Chr10:43606651 [GRCh37] Chr10:10q11.21 |
benign|likely benign|uncertain significance |
NM_020975.6(RET):c.1344C>G (p.Asn448Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000572664]|Hirschsprung disease, susceptibility to, 1 [RCV002483237]|Hirschsprung disease, susceptibility to, 1 [RCV003460874]|Multiple endocrine neoplasia, type 2 [RCV000123295]|Pilocytic astrocytoma [RCV000761174]|RET-related condition [RCV003925222]|not provided [RCV002466439] | Chr10:43111287 [GRCh38] Chr10:43606735 [GRCh37] Chr10:10q11.21 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.1386G>A (p.Ser462=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001011207]|Multiple endocrine neoplasia, type 2 [RCV000123296]|RET-related condition [RCV003935176]|not specified [RCV003317094] | Chr10:43111329 [GRCh38] Chr10:43606777 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1437C>T (p.Ala479=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001011572]|Multiple endocrine neoplasia, type 2 [RCV001086920]|Multiple endocrine neoplasia, type 2a [RCV000410836]|Multiple endocrine neoplasia, type 2b [RCV000409774]|not provided [RCV000679714] | Chr10:43111380 [GRCh38] Chr10:43606828 [GRCh37] Chr10:10q11.21 |
benign|likely benign|uncertain significance |
NM_020975.6(RET):c.1467C>A (p.Asp489Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001011534]|Multiple endocrine neoplasia, type 2 [RCV000123298]|Multiple endocrine neoplasia, type 2a [RCV000709113] | Chr10:43111410 [GRCh38] Chr10:43606858 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1642G>A (p.Gly548Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001012544]|Hirschsprung disease, susceptibility to, 1 [RCV002483238]|Multiple endocrine neoplasia, type 2 [RCV000123300]|Multiple endocrine neoplasia, type 2a [RCV000662401]|RET-related condition [RCV003945111]|not provided [RCV001762280] | Chr10:43112218 [GRCh38] Chr10:43607666 [GRCh37] Chr10:10q11.21 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.1699G>A (p.Asp567Asn) | single nucleotide variant | Familial medullary thyroid carcinoma [RCV002272134]|Hereditary cancer-predisposing syndrome [RCV000163453]|Hirschsprung disease, susceptibility to, 1 [RCV001104479]|Multiple endocrine neoplasia [RCV001104478]|Multiple endocrine neoplasia, type 2 [RCV001081705]|Multiple endocrine neoplasia, type 2a [RCV003153409]|Pheochromocytoma [RCV001107242]|RET-related condition [RCV003965038]|Renal hypodysplasia/aplasia 1 [RCV001107243]|not provided [RCV000727068]|not specified [RCV000455280] | Chr10:43112903 [GRCh38] Chr10:43608351 [GRCh37] Chr10:10q11.21 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.1724C>T (p.Thr575Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002399493]|Multiple endocrine neoplasia, type 2 [RCV000123302]|Multiple endocrine neoplasia, type 2a [RCV000662668] | Chr10:43112928 [GRCh38] Chr10:43608376 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1920C>T (p.Ala640=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000562785]|Hirschsprung disease, susceptibility to, 1 [RCV001104570]|Multiple endocrine neoplasia [RCV001102662]|Multiple endocrine neoplasia, type 2 [RCV000123303]|Pheochromocytoma [RCV001104571]|RET-related condition [RCV003935177]|Renal hypodysplasia/aplasia 1 [RCV001102661] | Chr10:43114520 [GRCh38] Chr10:43609968 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.2001A>T (p.Pro667=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001014049]|Multiple endocrine neoplasia, type 2 [RCV000123305] | Chr10:43114601 [GRCh38] Chr10:43610049 [GRCh37] Chr10:10q11.21 |
benign|likely benign|uncertain significance |
NM_020975.6(RET):c.2037C>T (p.Pro679=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000575514]|Hirschsprung disease, susceptibility to, 1 [RCV000302566]|Multiple endocrine neoplasia [RCV000346555]|Multiple endocrine neoplasia, type 2 [RCV000123306]|Multiple endocrine neoplasia, type 2b [RCV003315823]|Pheochromocytoma [RCV000398382]|RET-related condition [RCV003975094]|Renal hypodysplasia/aplasia 1 [RCV000291595]|not provided [RCV001811984]|not specified [RCV000433393] | Chr10:43114637 [GRCh38] Chr10:43610085 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.2166G>T (p.Lys722Asn) | single nucleotide variant | Hereditary cancer [RCV003492551]|Hereditary cancer-predisposing syndrome [RCV000562548]|Hirschsprung disease, susceptibility to, 1 [RCV002483239]|Hirschsprung disease, susceptibility to, 1 [RCV003467095]|Multiple endocrine neoplasia, type 2 [RCV000123307]|not provided [RCV003159099] | Chr10:43116613 [GRCh38] Chr10:43612061 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.2199C>T (p.Gly733=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001014747]|Multiple endocrine neoplasia, type 2 [RCV000123308] | Chr10:43116646 [GRCh38] Chr10:43612094 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.2409C>T (p.Ile803=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000567941]|Multiple endocrine neoplasia, type 2 [RCV000123310]|Multiple endocrine neoplasia, type 2a [RCV000409657]|Multiple endocrine neoplasia, type 2b [RCV000411631]|RET-related condition [RCV003894972] | Chr10:43119547 [GRCh38] Chr10:43614995 [GRCh37] Chr10:10q11.21 |
benign|likely benign|uncertain significance |
NM_020975.6(RET):c.2449C>T (p.Arg817Cys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001015577]|Hirschsprung disease, susceptibility to, 1 [RCV002466440]|Multiple endocrine neoplasia, type 2 [RCV000123311]|Multiple endocrine neoplasia, type 2a [RCV000409506]|Multiple endocrine neoplasia, type 2b [RCV000411874]|not provided [RCV000414497] | Chr10:43119587 [GRCh38] Chr10:43615035 [GRCh37] Chr10:10q11.21 |
likely pathogenic|uncertain significance |
NM_020975.6(RET):c.2692G>T (p.Asp898Tyr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001016327]|Multiple endocrine neoplasia, type 2 [RCV000123314] | Chr10:43120165 [GRCh38] Chr10:43615613 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2833G>A (p.Val945Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001016725]|Multiple endocrine neoplasia, type 2 [RCV000123315]|Multiple endocrine neoplasia, type 2a [RCV000662596] | Chr10:43123702 [GRCh38] Chr10:43619150 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2997G>A (p.Ala999=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001017866]|Multiple endocrine neoplasia, type 2 [RCV000123316] | Chr10:43124940 [GRCh38] Chr10:43620388 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala) | single nucleotide variant | Ewing sarcoma of soft tissue [RCV000761007]|Hereditary cancer-predisposing syndrome [RCV000163463]|Hirschsprung disease, susceptibility to, 1 [RCV001108238]|Multiple endocrine neoplasia [RCV001108239]|Multiple endocrine neoplasia, type 2 [RCV001083486]|Multiple endocrine neoplasia, type 2a [RCV000663277]|Pheochromocytoma [RCV001106024]|RET-related condition [RCV003891652]|Renal hypodysplasia/aplasia 1 [RCV001106025]|not provided [RCV000679744]|not specified [RCV001818296] | Chr10:43126647 [GRCh38] Chr10:43622095 [GRCh37] Chr10:10q11.21 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.3188-9C>T | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002258804]|Hirschsprung disease, susceptibility to, 1 [RCV001108240]|Multiple endocrine neoplasia [RCV001108241]|Multiple endocrine neoplasia, type 2 [RCV000123318]|Multiple endocrine neoplasia, type 2a [RCV000412312]|Multiple endocrine neoplasia, type 2b [RCV000410823]|Pheochromocytoma [RCV001108242]|Renal hypodysplasia/aplasia 1 [RCV001108243]|not specified [RCV000597670] | Chr10:43128103 [GRCh38] Chr10:43623551 [GRCh37] Chr10:10q11.21 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.31C>G (p.Leu11Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001019149]|Multiple endocrine neoplasia, type 2 [RCV000123319] | Chr10:43077289 [GRCh38] Chr10:43572737 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3243T>C (p.Asp1081=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000570968]|Hirschsprung disease, susceptibility to, 1 [RCV001103047]|Multiple endocrine neoplasia [RCV001108245]|Multiple endocrine neoplasia, type 2 [RCV000123320]|Multiple endocrine neoplasia, type 2a [RCV000412402]|Multiple endocrine neoplasia, type 2b [RCV000410847]|Pheochromocytoma [RCV001108244]|Renal hypodysplasia/aplasia 1 [RCV001103048] | Chr10:43128167 [GRCh38] Chr10:43623615 [GRCh37] Chr10:10q11.21 |
benign|likely benign|uncertain significance |
NM_020975.6(RET):c.3326T>C (p.Met1109Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000573076]|Hirschsprung disease, susceptibility to, 1 [RCV003460875]|Multiple endocrine neoplasia, type 2 [RCV000123321]|not provided [RCV000679747] | Chr10:43128250 [GRCh38] Chr10:43623698 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.335G>A (p.Arg112His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000563716]|Multiple endocrine neoplasia, type 2 [RCV000123322]|Multiple endocrine neoplasia, type 2a [RCV000409019]|Multiple endocrine neoplasia, type 2b [RCV000411433]|not provided [RCV001310569] | Chr10:43100720 [GRCh38] Chr10:43596168 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.597C>T (p.Asn199=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000565107]|Hirschsprung disease, susceptibility to, 1 [RCV000383508]|Multiple endocrine neoplasia [RCV000349967]|Multiple endocrine neoplasia, type 2 [RCV000123323]|Pheochromocytoma [RCV000292445]|Renal hypodysplasia/aplasia 1 [RCV000291430]|not provided [RCV003415926]|not specified [RCV000611182] | Chr10:43102601 [GRCh38] Chr10:43598049 [GRCh37] Chr10:10q11.21 |
benign|likely benign|uncertain significance |
NM_020975.6(RET):c.667G>A (p.Val223Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001025526]|Multiple endocrine neoplasia, type 2 [RCV000123324]|Multiple endocrine neoplasia, type 2a [RCV000409553]|Multiple endocrine neoplasia, type 2b [RCV000411929]|See cases [RCV002251993] | Chr10:43104993 [GRCh38] Chr10:43600441 [GRCh37] Chr10:10q11.21 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.693C>T (p.Arg231=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000568383]|Hirschsprung Disease, Dominant [RCV000263104]|Multiple endocrine neoplasia [RCV000355396]|Multiple endocrine neoplasia, type 2 [RCV001081768]|Multiple endocrine neoplasia, type 2a [RCV000409807]|Multiple endocrine neoplasia, type 2b [RCV000412200]|Pheochromocytoma [RCV000391410]|Renal hypodysplasia/aplasia 1 [RCV000302880]|not provided [RCV000123325] | Chr10:43105019 [GRCh38] Chr10:43600467 [GRCh37] Chr10:10q11.21 |
benign|likely benign|uncertain significance |
NM_020975.6(RET):c.757G>A (p.Val253Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001026582]|Hirschsprung disease, susceptibility to, 1 [RCV003467096]|Multiple endocrine neoplasia, type 2 [RCV000123326] | Chr10:43105083 [GRCh38] Chr10:43600531 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.868-9A>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000123328]|RET-related condition [RCV003935178] | Chr10:43106367 [GRCh38] Chr10:43601815 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.2261C>T (p.Thr754Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000573705]|Hirschsprung disease, susceptibility to, 1 [RCV002492438]|Hirschsprung disease, susceptibility to, 1 [RCV003460858]|Multiple endocrine neoplasia [RCV000202914]|Multiple endocrine neoplasia, type 2 [RCV000462996]|Multiple endocrine neoplasia, type 2a [RCV000411486]|Multiple endocrine neoplasia, type 2b [RCV000410377]|not provided [RCV003151746]|not specified [RCV000121979] | Chr10:43116708 [GRCh38] Chr10:43612156 [GRCh37] Chr10:10q11.21 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_020975.6(RET):c.2348A>C (p.Asn783Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000561957]|Hirschsprung disease, susceptibility to, 1 [RCV003460859]|Multiple endocrine neoplasia, type 2 [RCV000540063]|Multiple endocrine neoplasia, type 2a [RCV000410090]|Multiple endocrine neoplasia, type 2b [RCV000412123]|RET-related condition [RCV003390808]|not provided [RCV000724767]|not specified [RCV000121980] | Chr10:43118436 [GRCh38] Chr10:43613884 [GRCh37] Chr10:10q11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_020975.6(RET):c.2432C>G (p.Ser811Cys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000221652]|Multiple endocrine neoplasia, type 2 [RCV000808281]|Multiple endocrine neoplasia, type 2a [RCV000709122]|not specified [RCV000121981] | Chr10:43119570 [GRCh38] Chr10:43615018 [GRCh37] Chr10:10q11.21 |
uncertain significance|not provided |
NM_020975.6(RET):c.2875C>T (p.Arg959Trp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002433615]|Multiple endocrine neoplasia, type 2 [RCV000559400]|Multiple endocrine neoplasia, type 2a [RCV000410787]|Multiple endocrine neoplasia, type 2b [RCV000409726]|not specified [RCV000121982] | Chr10:43123744 [GRCh38] Chr10:43619192 [GRCh37] Chr10:10q11.21 |
uncertain significance|not provided |
NM_020975.6(RET):c.3185A>G (p.Tyr1062Cys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002321601]|Hirschsprung disease, susceptibility to, 1 [RCV003460860]|Multiple endocrine neoplasia, type 2 [RCV000532140]|Multiple endocrine neoplasia, type 2a [RCV000409698]|Multiple endocrine neoplasia, type 2b [RCV000412388]|not provided [RCV001577914]|not specified [RCV000121983] | Chr10:43126720 [GRCh38] Chr10:43622168 [GRCh37] Chr10:10q11.21 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_020975.6(RET):c.3116C>A (p.Pro1039Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002321602]|Multiple endocrine neoplasia, type 2 [RCV000793359]|not specified [RCV000121984] | Chr10:43126651 [GRCh38] Chr10:43622099 [GRCh37] Chr10:10q11.21 |
uncertain significance|not provided |
NM_020975.6(RET):c.304G>A (p.Asp102Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000567241]|Hirschsprung disease, susceptibility to, 1 [RCV002483229]|Multiple endocrine neoplasia, type 2 [RCV000554385]|RET-related condition [RCV003389700]|not specified [RCV000121987] | Chr10:43100689 [GRCh38] Chr10:43596137 [GRCh37] Chr10:10q11.21 |
benign|uncertain significance|not provided |
NM_020975.6(RET):c.488G>A (p.Arg163Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002336267]|Hirschsprung disease, susceptibility to, 1 [RCV002483230]|Multiple endocrine neoplasia, type 2 [RCV000795345]|not specified [RCV000121989] | Chr10:43102492 [GRCh38] Chr10:43597940 [GRCh37] Chr10:10q11.21 |
benign|uncertain significance|not provided |
NM_020975.6(RET):c.1049C>T (p.Thr350Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002390274]|Multiple endocrine neoplasia, type 2 [RCV001038827]|not specified [RCV000121991] | Chr10:43106557 [GRCh38] Chr10:43602005 [GRCh37] Chr10:10q11.21 |
uncertain significance|not provided |
NM_020975.6(RET):c.1157C>T (p.Ala386Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000163314]|Multiple endocrine neoplasia, type 2 [RCV001079718]|RET-related condition [RCV003945102]|not provided [RCV000726085]|not specified [RCV000121993] | Chr10:43109124 [GRCh38] Chr10:43604572 [GRCh37] Chr10:10q11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_020975.6(RET):c.1336G>C (p.Gly446Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000162955]|Hirschsprung disease, susceptibility to, 1 [RCV000317413]|Multiple endocrine neoplasia [RCV000337299]|Multiple endocrine neoplasia, type 2 [RCV001083435]|Multiple endocrine neoplasia, type 2a [RCV000409372]|Multiple endocrine neoplasia, type 2b [RCV000411174]|Pheochromocytoma [RCV000372019]|Renal hypodysplasia/aplasia 1 [RCV000282253]|not provided [RCV000712293]|not specified [RCV000121994] | Chr10:43111279 [GRCh38] Chr10:43606727 [GRCh37] Chr10:10q11.21 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
NM_020975.6(RET):c.1424G>A (p.Arg475Gln) | single nucleotide variant | Aganglionic megacolon [RCV000148779]|Hereditary cancer-predisposing syndrome [RCV001011481]|Multiple endocrine neoplasia, type 2 [RCV000470554]|not specified [RCV000121995] | Chr10:43111367 [GRCh38] Chr10:43606815 [GRCh37] Chr10:10q11.21 |
uncertain significance|not provided |
NM_020975.6(RET):c.1438G>A (p.Glu480Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000570658]|Hirschsprung disease, susceptibility to, 1 [RCV000758696]|Multiple endocrine neoplasia, type 2 [RCV000461515]|Multiple endocrine neoplasia, type 2a [RCV000410596]|Multiple endocrine neoplasia, type 2b [RCV000409013]|not provided [RCV001650985]|not specified [RCV000121996] | Chr10:43111381 [GRCh38] Chr10:43606829 [GRCh37] Chr10:10q11.21 |
likely pathogenic|likely benign|uncertain significance|no classifications from unflagged records|not provided |
NM_020975.6(RET):c.1465G>A (p.Asp489Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000163289]|Hirschsprung disease, susceptibility to, 1 [RCV000307925]|Multiple endocrine neoplasia, type 2 [RCV000205420]|Multiple endocrine neoplasia, type 2b [RCV003315776]|not provided [RCV001689670]|not specified [RCV000121997] | Chr10:43111408 [GRCh38] Chr10:43606856 [GRCh37] Chr10:10q11.21 |
benign|likely benign|not provided |
NM_020975.6(RET):c.1573C>T (p.Arg525Trp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000166496]|Hirschsprung disease, susceptibility to, 1 [RCV002492439]|Multiple endocrine neoplasia, type 2 [RCV000476004]|RET-related condition [RCV003415922]|not specified [RCV000121998] | Chr10:43112149 [GRCh38] Chr10:43607597 [GRCh37] Chr10:10q11.21 |
uncertain significance|not provided |
NM_020975.6(RET):c.1264-5C>T | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000129654]|Hirschsprung disease, susceptibility to, 1 [RCV000329345]|Hirschsprung disease, susceptibility to, 1 [RCV002498544]|Multiple endocrine neoplasia [RCV000269631]|Multiple endocrine neoplasia, type 2 [RCV001083250]|Multiple endocrine neoplasia, type 2a [RCV000410578]|Multiple endocrine neoplasia, type 2b [RCV000409020]|Pheochromocytoma [RCV000365295]|Renal hypodysplasia/aplasia 1 [RCV000364568]|not provided [RCV000425429]|not specified [RCV000151740] | Chr10:43111202 [GRCh38] Chr10:43606650 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.2976G>A (p.Pro992=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000164076]|Hirschsprung disease, susceptibility to, 1 [RCV000330738]|Multiple endocrine neoplasia [RCV000294401]|Multiple endocrine neoplasia, type 2 [RCV000119173]|Multiple endocrine neoplasia, type 2b [RCV003315707]|Pheochromocytoma [RCV000387641]|Renal hypodysplasia/aplasia 1 [RCV000374727]|not specified [RCV000431966] | Chr10:43124919 [GRCh38] Chr10:43620367 [GRCh37] Chr10:10q11.21 |
benign|likely benign|uncertain significance |
NM_020975.6(RET):c.3057G>A (p.Ala1019=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000574003]|Multiple endocrine neoplasia, type 2 [RCV000119177]|Multiple endocrine neoplasia, type 2a [RCV000411953]|Multiple endocrine neoplasia, type 2b [RCV000410440]|RET-related condition [RCV003965001]|not specified [RCV000613685] | Chr10:43126592 [GRCh38] Chr10:43622040 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.2477A>G (p.Tyr826Cys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001047293] | Chr10:43119615 [GRCh38] Chr10:43615063 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2979C>G (p.Asp993Glu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001302924] | Chr10:43124922 [GRCh38] Chr10:43620370 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2586_2592del (p.Met862fs) | deletion | not provided [RCV000174791] | Chr10:43119722..43119728 [GRCh38] Chr10:43615170..43615176 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.2081G>A (p.Arg694Gln) | single nucleotide variant | Aganglionic megacolon [RCV000148781]|Hereditary cancer-predisposing syndrome [RCV000562835]|Hirschsprung disease, susceptibility to, 1 [RCV001102744]|Multiple endocrine neoplasia [RCV001102746]|Multiple endocrine neoplasia, type 2 [RCV000462012]|Multiple endocrine neoplasia, type 2a [RCV000409290]|Multiple endocrine neoplasia, type 2b [RCV000411751]|Pheochromocytoma [RCV001102743]|RET-related condition [RCV003935258]|Renal hypodysplasia/aplasia 1 [RCV001102745]|not provided [RCV000766923]|not specified [RCV000455880] | Chr10:43114681 [GRCh38] Chr10:43610129 [GRCh37] Chr10:10q11.21 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.3191T>C (p.Met1064Thr) | single nucleotide variant | Aganglionic megacolon [RCV000148784]|Hereditary cancer-predisposing syndrome [RCV000569531]|Hirschsprung disease, susceptibility to, 1 [RCV002505137]|Hirschsprung disease, susceptibility to, 1 [RCV003462057]|Multiple endocrine neoplasia, type 2 [RCV000557293]|not provided [RCV003480062] | Chr10:43128115 [GRCh38] Chr10:43623563 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.539G>A (p.Arg180Gln) | single nucleotide variant | Aganglionic megacolon [RCV000148786]|Familial medullary thyroid carcinoma [RCV001294034]|Hereditary cancer-predisposing syndrome [RCV001024031]|Multiple endocrine neoplasia, type 2 [RCV000197537]|Multiple endocrine neoplasia, type 2a [RCV000410075]|Multiple endocrine neoplasia, type 2b [RCV000412078]|not provided [RCV003736605] | Chr10:43102543 [GRCh38] Chr10:43597991 [GRCh37] Chr10:10q11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.483G>T (p.Lys161Asn) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003104202] | Chr10:43102487 [GRCh38] Chr10:43597935 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3142C>G (p.Leu1048Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000574881]|Multiple endocrine neoplasia, type 2 [RCV000474558]|Multiple endocrine neoplasia, type 2a [RCV000412050]|Multiple endocrine neoplasia, type 2b [RCV000410987]|not provided [RCV003235199] | Chr10:43126677 [GRCh38] Chr10:43622125 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2116G>A (p.Val706Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000565078]|Multiple endocrine neoplasia, type 2 [RCV000795272]|Multiple endocrine neoplasia, type 2a [RCV000410654]|Multiple endocrine neoplasia, type 2b [RCV000409130] | Chr10:43114716 [GRCh38] Chr10:43610164 [GRCh37] Chr10:10q11.21 |
benign|uncertain significance |
NM_020975.6(RET):c.2488G>A (p.Gly830Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002429338]|Hirschsprung disease, susceptibility to, 1 [RCV002505998]|Multiple endocrine neoplasia, type 2 [RCV000704852]|Multiple endocrine neoplasia, type 2a [RCV000410477]|Multiple endocrine neoplasia, type 2b [RCV000409178]|RET-related condition [RCV003409569] | Chr10:43119626 [GRCh38] Chr10:43615074 [GRCh37] Chr10:10q11.21 |
benign|uncertain significance |
NM_020975.6(RET):c.1263+9A>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001313178] | Chr10:43109239 [GRCh38] Chr10:43604687 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1760-3C>T | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000129928]|Multiple endocrine neoplasia, type 2 [RCV000465909]|Multiple endocrine neoplasia, type 2a [RCV000662818] | Chr10:43113553 [GRCh38] Chr10:43609001 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.405C>T (p.Gly135=) | single nucleotide variant | Hereditary cancer [RCV003492597]|Hereditary cancer-predisposing syndrome [RCV000130281]|Multiple endocrine neoplasia, type 2 [RCV000467605]|RET-related condition [RCV003422023]|not provided [RCV001565613] | Chr10:43102409 [GRCh38] Chr10:43597857 [GRCh37] Chr10:10q11.21 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.2498G>A (p.Arg833His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000132029]|Hirschsprung disease, susceptibility to, 1 [RCV003462028]|Multiple endocrine neoplasia, type 2 [RCV000474700] | Chr10:43119636 [GRCh38] Chr10:43615084 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2454G>A (p.Glu818=) | single nucleotide variant | Congenital central hypoventilation [RCV000764901]|Hereditary cancer-predisposing syndrome [RCV002255313]|Multiple endocrine neoplasia, type 2 [RCV001437744]|not provided [RCV000174792] | Chr10:43119592 [GRCh38] Chr10:43615040 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3 | copy number gain | See cases [RCV000134381] | Chr10:42884294..52265317 [GRCh38] Chr10:43379742..54025077 [GRCh37] Chr10:42699748..53695083 [NCBI36] Chr10:10q11.21-21.1 |
pathogenic |
GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3 | copy number gain | See cases [RCV000134846] | Chr10:42395201..50877059 [GRCh38] Chr10:42890649..52636819 [GRCh37] Chr10:42210655..52306825 [NCBI36] Chr10:10q11.21-11.23 |
pathogenic |
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 | copy number gain | See cases [RCV000134848] | Chr10:42685306..73715908 [GRCh38] Chr10:43180754..75475666 [GRCh37] Chr10:42500760..75145672 [NCBI36] Chr10:10q11.21-22.2 |
pathogenic |
GRCh38/hg38 10q11.21(chr10:42395216-43234240)x3 | copy number gain | See cases [RCV000137126] | Chr10:42395216..43234240 [GRCh38] Chr10:42890664..43729688 [GRCh37] Chr10:42210670..43049694 [NCBI36] Chr10:10q11.21 |
uncertain significance |
GRCh38/hg38 10q11.21(chr10:43126703-43372908)x3 | copy number gain | See cases [RCV000139028] | Chr10:43126703..43372908 [GRCh38] Chr10:43622151..43868356 [GRCh37] Chr10:42942157..43188362 [NCBI36] Chr10:10q11.21 |
uncertain significance |
GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3 | copy number gain | See cases [RCV000141497] | Chr10:4604734..48074662 [GRCh38] Chr10:4646926..47531169 [GRCh37] Chr10:4636926..47125152 [NCBI36] Chr10:10p15.1-q11.22 |
benign |
GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3 | copy number gain | See cases [RCV000142967] | Chr10:42112187..67400675 [GRCh38] Chr10:42607635..69160433 [GRCh37] Chr10:41927641..68830439 [NCBI36] Chr10:10q11.21-21.3 |
pathogenic |
NM_020975.6(RET):c.3187+47T>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001520525]|Multiple endocrine neoplasia, type 2a [RCV001795262]|Multiple endocrine neoplasia, type 2b [RCV001795263]|Pheochromocytoma [RCV001795261]|not specified [RCV000151742] | Chr10:43126769 [GRCh38] Chr10:43622217 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.135A>G (p.Ala45=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000860140]|Multiple endocrine neoplasia, type 2a [RCV001795270]|Multiple endocrine neoplasia, type 2b [RCV001795271]|Pheochromocytoma [RCV001795269]|not provided [RCV001727603]|not specified [RCV000153833] | Chr10:43100520 [GRCh38] Chr10:43595968 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.2307G>T (p.Leu769=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000860142]|Multiple endocrine neoplasia, type 2a [RCV001795273]|Multiple endocrine neoplasia, type 2b [RCV001795274]|Pheochromocytoma [RCV001795272]|not provided [RCV001727604]|not specified [RCV000153835] | Chr10:43118395 [GRCh38] Chr10:43613843 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.699G>A (p.Gln233=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000167044] | Chr10:43105025 [GRCh38] Chr10:43600473 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3253A>G (p.Thr1085Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000162457]|Hirschsprung disease, susceptibility to, 1 [RCV000343184]|Multiple endocrine neoplasia [RCV000401667]|Multiple endocrine neoplasia, type 2 [RCV000168316]|Multiple endocrine neoplasia, type 2a [RCV000411142]|Multiple endocrine neoplasia, type 2b [RCV000409584]|Pheochromocytoma [RCV000339922]|Renal hypodysplasia/aplasia 1 [RCV000304884]|not provided [RCV002460938] | Chr10:43128177 [GRCh38] Chr10:43623625 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1765A>C (p.Ser589Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000165484]|Multiple endocrine neoplasia, type 2 [RCV001041131] | Chr10:43113561 [GRCh38] Chr10:43609009 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1884A>T (p.Pro628=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000165598] | Chr10:43114484 [GRCh38] Chr10:43609932 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1051G>A (p.Val351Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000167232]|Hirschsprung disease, susceptibility to, 1 [RCV002485039]|Multiple endocrine neoplasia, type 2 [RCV000553159] | Chr10:43106559 [GRCh38] Chr10:43602007 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.957C>A (p.Leu319=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000163298]|Hirschsprung disease, susceptibility to, 1 [RCV000384830]|Multiple endocrine neoplasia [RCV000288125]|Multiple endocrine neoplasia, type 2 [RCV001084417]|Pheochromocytoma [RCV000275161]|Renal hypodysplasia/aplasia 1 [RCV000327857]|not provided [RCV000679757]|not specified [RCV001818363] | Chr10:43106465 [GRCh38] Chr10:43601913 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.2523G>T (p.Pro841=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000163299]|Hirschsprung disease, susceptibility to, 1 [RCV001105909]|Multiple endocrine neoplasia [RCV001104780]|Multiple endocrine neoplasia, type 2 [RCV001080805]|Pheochromocytoma [RCV001104779]|Renal hypodysplasia/aplasia 1 [RCV001105910]|not provided [RCV000679732]|not specified [RCV001818364] | Chr10:43119661 [GRCh38] Chr10:43615109 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1352C>T (p.Thr451Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000167414]|Multiple endocrine neoplasia, type 2 [RCV000654555]|not specified [RCV003226229] | Chr10:43111295 [GRCh38] Chr10:43606743 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2225C>T (p.Thr742Met) | single nucleotide variant | Congenital central hypoventilation [RCV000764899]|Hereditary cancer-predisposing syndrome [RCV000167451]|Multiple endocrine neoplasia, type 2 [RCV000654567]|Multiple endocrine neoplasia, type 2a [RCV000409934]|Multiple endocrine neoplasia, type 2b [RCV000409277] | Chr10:43116672 [GRCh38] Chr10:43612120 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.225G>A (p.Thr75=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000163611]|Hirschsprung disease, susceptibility to, 1 [RCV001105642]|Multiple endocrine neoplasia [RCV001105643]|Multiple endocrine neoplasia, type 2 [RCV000200674]|Multiple endocrine neoplasia, type 2a [RCV000409943]|Multiple endocrine neoplasia, type 2b [RCV000412352]|Pheochromocytoma [RCV001103697]|Renal hypodysplasia/aplasia 1 [RCV001105644]|not specified [RCV000606849] | Chr10:43100610 [GRCh38] Chr10:43596058 [GRCh37] Chr10:10q11.21 |
likely pathogenic|benign|likely benign|uncertain significance |
NM_020975.6(RET):c.604G>A (p.Val202Met) | single nucleotide variant | Familial medullary thyroid carcinoma [RCV001292848]|Hereditary cancer-predisposing syndrome [RCV000163807]|Hirschsprung disease, susceptibility to, 1 [RCV002492650]|Medulloblastoma [RCV000761173]|Multiple endocrine neoplasia, type 2 [RCV000229469]|Multiple endocrine neoplasia, type 2a [RCV000411409]|Multiple endocrine neoplasia, type 2b [RCV000409859]|RET-related condition [RCV003945280]|not provided [RCV001575603]|not specified [RCV000455164] | Chr10:43102608 [GRCh38] Chr10:43598056 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3138C>A (p.Ala1046=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000163809]|Multiple endocrine neoplasia, type 2 [RCV001085603]|RET-related condition [RCV003937498]|not provided [RCV000842686] | Chr10:43126673 [GRCh38] Chr10:43622121 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1197G>A (p.Pro399=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000163896]|Multiple endocrine neoplasia, type 2 [RCV001079831]|Multiple endocrine neoplasia, type 2a [RCV000411900]|Multiple endocrine neoplasia, type 2b [RCV000410397]|RET-related condition [RCV003891697]|not provided [RCV000679712]|not specified [RCV001731412] | Chr10:43109164 [GRCh38] Chr10:43604612 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.682G>T (p.Ala228Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000166643]|Multiple endocrine neoplasia, type 2 [RCV001850349] | Chr10:43105008 [GRCh38] Chr10:43600456 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1405G>C (p.Asp469His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000164265]|not provided [RCV003322753] | Chr10:43111348 [GRCh38] Chr10:43606796 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.548G>A (p.Gly183Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001024171]|Hirschsprung disease, susceptibility to, 1 [RCV002485042]|Hirschsprung disease, susceptibility to, 1 [RCV003468818]|Multiple endocrine neoplasia, type 2 [RCV000167887] | Chr10:43102552 [GRCh38] Chr10:43598000 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.972G>C (p.Trp324Cys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002381533]|Hirschsprung disease, susceptibility to, 1 [RCV001107613]|Multiple endocrine neoplasia [RCV001107611]|Multiple endocrine neoplasia, type 2 [RCV000167906]|Multiple endocrine neoplasia, type 2a [RCV000410975]|Multiple endocrine neoplasia, type 2b [RCV000409785]|Pheochromocytoma [RCV001107614]|Renal hypodysplasia/aplasia 1 [RCV001107612]|not provided [RCV000994377] | Chr10:43106480 [GRCh38] Chr10:43601928 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.3021G>T (p.Lys1007Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002433721]|Multiple endocrine neoplasia, type 2 [RCV000168015] | Chr10:43124964 [GRCh38] Chr10:43620412 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1118C>T (p.Ala373Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001017385]|Hirschsprung Disease, Dominant [RCV000338812]|Multiple endocrine neoplasia [RCV000393682]|Multiple endocrine neoplasia, type 2 [RCV000168246]|Multiple endocrine neoplasia, type 2a [RCV000662764]|Multiple endocrine neoplasia, type 2b [RCV003316068]|Pheochromocytoma [RCV000401362]|RET-related condition [RCV003937518]|Renal hypodysplasia/aplasia 1 [RCV000281539]|not specified [RCV000607370] | Chr10:43109085 [GRCh38] Chr10:43604533 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.262A>G (p.Ile88Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000563081]|Multiple endocrine neoplasia, type 2 [RCV000168298]|Multiple endocrine neoplasia, type 2a [RCV000410050]|Multiple endocrine neoplasia, type 2b [RCV000412432]|RET-related condition [RCV003937519]|not provided [RCV001582661]|not specified [RCV000781813] | Chr10:43100647 [GRCh38] Chr10:43596095 [GRCh37] Chr10:10q11.21 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.5(RET):c.2731-?_*(1_?)del | deletion | Multiple endocrine neoplasia, type 2 [RCV000168417] | Chr10:43121946..43128270 [GRCh38] Chr10:43617394..43623718 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.4(RET):c.1A>T (p.Met1Leu) | single nucleotide variant | not provided [RCV000182578] | Chr10:43077259 [GRCh38] Chr10:43572707 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.2542A>G (p.Met848Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001015864]|Hirschsprung disease, susceptibility to, 1 [RCV002485208]|Multiple endocrine neoplasia, type 2 [RCV001237361]|not provided [RCV000182586] | Chr10:43119680 [GRCh38] Chr10:43615128 [GRCh37] Chr10:10q11.21 |
likely pathogenic|uncertain significance |
NM_020975.6(RET):c.2831T>G (p.Ile944Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003297666] | Chr10:43123700 [GRCh38] Chr10:43619148 [GRCh37] Chr10:10q11.21 |
likely pathogenic|uncertain significance |
NM_020975.6(RET):c.2837C>T (p.Thr946Ile) | single nucleotide variant | not provided [RCV000182588] | Chr10:43123706 [GRCh38] Chr10:43619154 [GRCh37] Chr10:10q11.21 |
likely pathogenic |
NM_020975.4(RET):c.2939T>A (p.Met980Lys) | single nucleotide variant | not provided [RCV000182589] | Chr10:43123808 [GRCh38] Chr10:43619256 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.3275A>G (p.Asn1092Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003645983] | Chr10:43128199 [GRCh38] Chr10:43623647 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3314C>T (p.Ala1105Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001019923]|Hirschsprung disease, susceptibility to, 1 [RCV002478618]|Hirschsprung disease, susceptibility to, 1 [RCV003462290]|Multiple endocrine neoplasia, type 2 [RCV000463602]|Multiple endocrine neoplasia, type 2a [RCV000662469]|not specified [RCV000456051] | Chr10:43128238 [GRCh38] Chr10:43623686 [GRCh37] Chr10:10q11.21 |
likely pathogenic|likely benign|uncertain significance |
NM_020975.6(RET):c.2846del (p.Gly949fs) | deletion | not provided [RCV000182592] | Chr10:43123711 [GRCh38] Chr10:43619159 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.4(RET):c.1073T>C (p.Leu358Pro) | single nucleotide variant | not provided [RCV000182593] | Chr10:43109040 [GRCh38] Chr10:43604488 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2234A>T (p.His745Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001014896]|Hirschsprung disease, susceptibility to, 1 [RCV002485209]|Multiple endocrine neoplasia, type 2a [RCV000709120] | Chr10:43116681 [GRCh38] Chr10:43612129 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2839del (p.Thr946_Leu947insTer) | deletion | not provided [RCV000182597] | Chr10:43123706 [GRCh38] Chr10:43619154 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.1300A>G (p.Ser434Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001010856]|Hirschsprung disease, susceptibility to, 1 [RCV002503697]|Multiple endocrine neoplasia, type 2 [RCV000796293]|not provided [RCV000179967] | Chr10:43111243 [GRCh38] Chr10:43606691 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NC_000010.11:g.43077033C>T | single nucleotide variant | not provided [RCV001549542] | Chr10:43077033 [GRCh38] Chr10:43572481 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2661G>A (p.Lys887=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001016148]|Multiple endocrine neoplasia, type 2 [RCV000195455] | Chr10:43120134 [GRCh38] Chr10:43615582 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1648+5G>A | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003298264]|Hirschsprung disease, susceptibility to, 1 [RCV002485321]|Multiple endocrine neoplasia, type 2 [RCV000195571] | Chr10:43112229 [GRCh38] Chr10:43607677 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2289C>T (p.Asn763=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000572176]|Multiple endocrine neoplasia, type 2 [RCV001081346]|Multiple endocrine neoplasia, type 2a [RCV000988345]|not provided [RCV000679730] | Chr10:43118377 [GRCh38] Chr10:43613825 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3231C>G (p.Leu1077=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002444805]|Multiple endocrine neoplasia, type 2 [RCV000196017] | Chr10:43128155 [GRCh38] Chr10:43623603 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1103G>A (p.Arg368His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002453728]|Hirschsprung disease, susceptibility to, 1 [RCV002478711]|Hirschsprung disease, susceptibility to, 1 [RCV003462336]|Multiple endocrine neoplasia, type 2 [RCV000196030]|RET-related condition [RCV003407710] | Chr10:43109070 [GRCh38] Chr10:43604518 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1063+7G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001475017] | Chr10:43106578 [GRCh38] Chr10:43602026 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2776C>G (p.His926Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002433890]|Hirschsprung disease, susceptibility to, 1 [RCV002478713]|Multiple endocrine neoplasia, type 2 [RCV000196286]|not provided [RCV003441780] | Chr10:43121991 [GRCh38] Chr10:43617439 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.308A>G (p.His103Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002321798]|Multiple endocrine neoplasia, type 2 [RCV000196485]|Multiple endocrine neoplasia, type 2a [RCV000411052]|Multiple endocrine neoplasia, type 2b [RCV000409523] | Chr10:43100693 [GRCh38] Chr10:43596141 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.582G>A (p.Gln194=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001024579]|Multiple endocrine neoplasia, type 2 [RCV000196923]|Multiple endocrine neoplasia, type 2b [RCV003316111]|not provided [RCV003417724]|not specified [RCV000245877] | Chr10:43102586 [GRCh38] Chr10:43598034 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1890C>T (p.Cys630=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001013471]|Hirschsprung disease, susceptibility to, 1 [RCV001102660]|Multiple endocrine neoplasia [RCV001102657]|Multiple endocrine neoplasia, type 2 [RCV000197302]|Pheochromocytoma [RCV001102659]|Renal hypodysplasia/aplasia 1 [RCV001102658]|not provided [RCV002225500]|not specified [RCV000506065] | Chr10:43114490 [GRCh38] Chr10:43609938 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1476C>G (p.Thr492=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001011749]|Hirschsprung disease, susceptibility to, 1 [RCV002485313]|Multiple endocrine neoplasia, type 2 [RCV001082401]|not provided [RCV000679716] | Chr10:43111419 [GRCh38] Chr10:43606867 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2715C>T (p.Tyr905=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000564113]|Hirschsprung disease, susceptibility to, 1 [RCV002485314]|Multiple endocrine neoplasia, type 2 [RCV000197737]|Multiple endocrine neoplasia, type 2a [RCV000662510] | Chr10:43120188 [GRCh38] Chr10:43615636 [GRCh37] Chr10:10q11.21 |
pathogenic|benign|likely benign |
NM_020975.6(RET):c.1150C>G (p.Pro384Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000567892]|Multiple endocrine neoplasia, type 2 [RCV000197885]|Multiple endocrine neoplasia, type 2a [RCV000410243]|Multiple endocrine neoplasia, type 2b [RCV000412082] | Chr10:43109117 [GRCh38] Chr10:43604565 [GRCh37] Chr10:10q11.21 |
benign|uncertain significance |
NM_020975.6(RET):c.2601G>T (p.Glu867Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001016073]|Multiple endocrine neoplasia, type 2 [RCV000197994]|RET-related condition [RCV003927861]|not provided [RCV003225040]|not specified [RCV003987446] | Chr10:43119739 [GRCh38] Chr10:43615187 [GRCh37] Chr10:10q11.21 |
likely pathogenic|likely benign|uncertain significance |
NM_020975.6(RET):c.1688A>C (p.Lys563Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002408884]|Multiple endocrine neoplasia, type 2 [RCV000198118] | Chr10:43112892 [GRCh38] Chr10:43608340 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2931C>G (p.Ser977Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001017530]|Hirschsprung disease, susceptibility to, 1 [RCV002492921]|Hirschsprung disease, susceptibility to, 1 [RCV003462337]|Multiple endocrine neoplasia, type 2 [RCV000198200]|Multiple endocrine neoplasia, type 2a [RCV000662775]|not provided [RCV000679738] | Chr10:43123800 [GRCh38] Chr10:43619248 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1695C>T (p.Cys565=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001012677]|Multiple endocrine neoplasia, type 2 [RCV000198348]|RET-related condition [RCV003917811] | Chr10:43112899 [GRCh38] Chr10:43608347 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3182T>C (p.Leu1061Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000569228]|Hirschsprung disease, susceptibility to, 1 [RCV003462338]|Multiple endocrine neoplasia, type 2 [RCV000198421]|Multiple endocrine neoplasia, type 2a [RCV000662784]|not specified [RCV000454885] | Chr10:43126717 [GRCh38] Chr10:43622165 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2088G>A (p.Ser696=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000572256]|Hirschsprung disease, susceptibility to, 1 [RCV000342100]|Multiple endocrine neoplasia [RCV000286968]|Multiple endocrine neoplasia, type 2 [RCV000198466]|Pheochromocytoma [RCV000400174]|Renal hypodysplasia/aplasia 1 [RCV000297432]|not provided [RCV001753599]|not specified [RCV000612709] | Chr10:43114688 [GRCh38] Chr10:43610136 [GRCh37] Chr10:10q11.21 |
likely pathogenic|benign|likely benign |
NM_020975.4(RET):c.(?_-1)_(*1_?)dup | duplication | Multiple endocrine neoplasia, type 2 [RCV000198928] | Chr10:10q11.21 | uncertain significance |
NM_020975.6(RET):c.1188G>A (p.Ser396=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000573373]|Multiple endocrine neoplasia, type 2 [RCV000199148]|Multiple endocrine neoplasia, type 2a [RCV000663114]|not provided [RCV003417723] | Chr10:43109155 [GRCh38] Chr10:43604603 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.44TGC[8] (p.Leu19_Pro20insLeuLeuLeu) | microsatellite | Hereditary cancer-predisposing syndrome [RCV002257499]|Hirschsprung disease, susceptibility to, 1 [RCV002485322]|Multiple endocrine neoplasia, type 2 [RCV000199248]|Multiple endocrine neoplasia, type 2a [RCV000709099]|not provided [RCV000597959]|not specified [RCV003155120] | Chr10:43077301..43077302 [GRCh38] Chr10:43572749..43572750 [GRCh37] Chr10:10q11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.2988G>A (p.Pro996=) | single nucleotide variant | Appendicitis [RCV001289998]|Hereditary cancer-predisposing syndrome [RCV000569522]|Hirschsprung disease, susceptibility to, 1 [RCV000345815]|Multiple endocrine neoplasia [RCV000395274]|Multiple endocrine neoplasia, type 2 [RCV000199267]|Multiple endocrine neoplasia, type 2a [RCV000662488]|Pheochromocytoma [RCV000291942]|Renal hypodysplasia/aplasia 1 [RCV000288556]|not provided [RCV003326372]|not specified [RCV000253581] | Chr10:43124931 [GRCh38] Chr10:43620379 [GRCh37] Chr10:10q11.21 |
pathogenic|benign|likely benign|uncertain significance |
NM_020975.6(RET):c.2607+9A>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001482289] | Chr10:43119754 [GRCh38] Chr10:43615202 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.977A>G (p.Gln326Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000574518]|Hirschsprung disease, susceptibility to, 1 [RCV002485323]|Hirschsprung disease, susceptibility to, 1 [RCV003462340]|Multiple endocrine neoplasia, type 2 [RCV000199477]|Multiple endocrine neoplasia, type 2a [RCV000662571]|not provided [RCV002284372] | Chr10:43106485 [GRCh38] Chr10:43601933 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2607+4C>T | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001016043]|Multiple endocrine neoplasia, type 2 [RCV000199849]|Multiple endocrine neoplasia, type 2a [RCV000410597]|Multiple endocrine neoplasia, type 2b [RCV000409038]|RET-related condition [RCV003895275]|not provided [RCV003477672] | Chr10:43119749 [GRCh38] Chr10:43615197 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1737C>G (p.Asn579Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000566376]|Hirschsprung disease, susceptibility to, 1 [RCV001824681]|Hirschsprung disease, susceptibility to, 1 [RCV002492920]|Multiple endocrine neoplasia, type 2 [RCV000199970]|not provided [RCV000679723] | Chr10:43112941 [GRCh38] Chr10:43608389 [GRCh37] Chr10:10q11.21 |
uncertain significance|not provided |
NM_020975.6(RET):c.334C>T (p.Arg112Cys) | single nucleotide variant | Congenital anomaly of kidney and urinary tract [RCV002470810]|Hereditary cancer-predisposing syndrome [RCV000572326]|Hirschsprung disease, susceptibility to, 1 [RCV000374792]|Multiple endocrine neoplasia [RCV000283887]|Multiple endocrine neoplasia, type 2 [RCV000200291]|Multiple endocrine neoplasia, type 2a [RCV000663300]|Pheochromocytoma [RCV000322527]|Renal hypodysplasia/aplasia 1 [RCV000380664] | Chr10:43100719 [GRCh38] Chr10:43596167 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.468C>T (p.Ala156=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000561761]|Hirschsprung disease, susceptibility to, 1 [RCV002500618]|Multiple endocrine neoplasia, type 2 [RCV000200388]|not provided [RCV003736636]|not specified [RCV000607836] | Chr10:43102472 [GRCh38] Chr10:43597920 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.431G>A (p.Arg144His) | single nucleotide variant | Familial medullary thyroid carcinoma [RCV001294032]|Hereditary cancer-predisposing syndrome [RCV000565710]|Hirschsprung disease, susceptibility to, 1 [RCV002500624]|Multiple endocrine neoplasia, type 2 [RCV000200522]|Multiple endocrine neoplasia, type 2a [RCV000662542] | Chr10:43102435 [GRCh38] Chr10:43597883 [GRCh37] Chr10:10q11.21 |
likely pathogenic|uncertain significance |
NM_020975.6(RET):c.1782C>T (p.His594=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002399740]|Multiple endocrine neoplasia, type 2 [RCV000200557]|not provided [RCV001531683] | Chr10:43113578 [GRCh38] Chr10:43609026 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.144G>A (p.Thr48=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001011645]|Hirschsprung disease, susceptibility to, 1 [RCV002503779]|Multiple endocrine neoplasia, type 2 [RCV001086694]|RET-related condition [RCV003955208]|not provided [RCV000827021] | Chr10:43100529 [GRCh38] Chr10:43595977 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2939+6C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001087395]|Multiple endocrine neoplasia, type 2a [RCV000663279]|not provided [RCV000679739] | Chr10:43123814 [GRCh38] Chr10:43619262 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1897C>G (p.Leu633Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003165476]|Hirschsprung disease, susceptibility to, 1 [RCV002503784]|Multiple endocrine neoplasia, type 2 [RCV000196130]|Multiple endocrine neoplasia, type 2a [RCV000411153]|Multiple endocrine neoplasia, type 2b [RCV000410079]|not provided [RCV002478712] | Chr10:43114497 [GRCh38] Chr10:43609945 [GRCh37] Chr10:10q11.21 |
pathogenic|uncertain significance |
NM_020975.6(RET):c.406G>A (p.Glu136Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000571944]|Hirschsprung disease, susceptibility to, 1 [RCV002503785]|Hirschsprung disease, susceptibility to, 1 [RCV003462339]|Multiple endocrine neoplasia, type 2 [RCV000197380]|Multiple endocrine neoplasia, type 2a [RCV000662413]|Ovarian cancer [RCV003153474]|not provided [RCV000679750]|not specified [RCV000678743] | Chr10:43102410 [GRCh38] Chr10:43597858 [GRCh37] Chr10:10q11.21 |
benign|likely benign|uncertain significance |
NM_020975.6(RET):c.1678C>T (p.Pro560Ser) | single nucleotide variant | Hereditary cancer [RCV003491956]|Hereditary cancer-predisposing syndrome [RCV002399762]|Multiple endocrine neoplasia, type 2 [RCV000204252] | Chr10:43112882 [GRCh38] Chr10:43608330 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.517T>C (p.Ser173Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002336561]|Hirschsprung disease, susceptibility to, 1 [RCV002485343]|Multiple endocrine neoplasia, type 2 [RCV000204256] | Chr10:43102521 [GRCh38] Chr10:43597969 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2730+5C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000204271] | Chr10:43120208 [GRCh38] Chr10:43615656 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1943T>C (p.Val648Ala) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000204329] | Chr10:43114543 [GRCh38] Chr10:43609991 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.654G>A (p.Pro218=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000570184]|Hirschsprung disease, susceptibility to, 1 [RCV000342504]|Multiple endocrine neoplasia [RCV000303924]|Multiple endocrine neoplasia, type 2 [RCV001083416]|Pheochromocytoma [RCV000344061]|Renal hypodysplasia/aplasia 1 [RCV000398250]|not provided [RCV000679755]|not specified [RCV000595562] | Chr10:43104980 [GRCh38] Chr10:43600428 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.1404T>C (p.Asn468=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002390541]|Multiple endocrine neoplasia, type 2 [RCV001405019] | Chr10:43111347 [GRCh38] Chr10:43606795 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2137-10T>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000204531] | Chr10:43116574 [GRCh38] Chr10:43612022 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1223A>T (p.Tyr408Phe) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000204565] | Chr10:43109190 [GRCh38] Chr10:43604638 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2393-9C>T | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002256114]|Hirschsprung disease, susceptibility to, 1 [RCV002503802]|Multiple endocrine neoplasia, type 2 [RCV000204697]|Multiple endocrine neoplasia, type 2a [RCV000662436]|Multiple endocrine neoplasia, type 2b [RCV003316133] | Chr10:43119522 [GRCh38] Chr10:43614970 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.3279T>C (p.Asp1093=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001491780] | Chr10:43128203 [GRCh38] Chr10:43623651 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1253G>C (p.Arg418Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000564885]|Hirschsprung disease, susceptibility to, 1 [RCV002478724]|Multiple endocrine neoplasia, type 2 [RCV000205043] | Chr10:43109220 [GRCh38] Chr10:43604668 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1264-5C>G | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV003468947]|Multiple endocrine neoplasia, type 2 [RCV001493874] | Chr10:43111202 [GRCh38] Chr10:43606650 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.2226G>A (p.Thr742=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000575112]|Multiple endocrine neoplasia, type 2 [RCV001083002]|Multiple endocrine neoplasia, type 2a [RCV000409060]|Multiple endocrine neoplasia, type 2b [RCV000411512]|not provided [RCV000205202] | Chr10:43116673 [GRCh38] Chr10:43612121 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.1530C>T (p.Ala510=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000576018]|Hirschsprung disease, susceptibility to, 1 [RCV002494522]|Multiple endocrine neoplasia, type 2 [RCV000205208]|Multiple endocrine neoplasia, type 2a [RCV000410799]|Multiple endocrine neoplasia, type 2b [RCV000409713] | Chr10:43112106 [GRCh38] Chr10:43607554 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.1052T>A (p.Val351Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002399761]|Hirschsprung disease, susceptibility to, 1 [RCV003462370]|Multiple endocrine neoplasia, type 2 [RCV000205293]|Ovarian cancer [RCV003153481] | Chr10:43106560 [GRCh38] Chr10:43602008 [GRCh37] Chr10:10q11.21 |
benign|likely benign|uncertain significance |
NM_020975.6(RET):c.951G>A (p.Thr317=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000574221]|Multiple endocrine neoplasia, type 2 [RCV000205297]|Multiple endocrine neoplasia, type 2b [RCV003316129]|not specified [RCV000251081] | Chr10:43106459 [GRCh38] Chr10:43601907 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1124T>A (p.Leu375Gln) | single nucleotide variant | Congenital central hypoventilation [RCV001294030]|Hereditary cancer-predisposing syndrome [RCV000564599]|Multiple endocrine neoplasia, type 2 [RCV001083800]|RET-related condition [RCV003937784]|not provided [RCV000591528]|not specified [RCV001532950] | Chr10:43109091 [GRCh38] Chr10:43604539 [GRCh37] Chr10:10q11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.2477A>C (p.Tyr826Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001015653]|Hirschsprung disease, susceptibility to, 1 [RCV003462382]|Multiple endocrine neoplasia, type 2 [RCV000205464]|Multiple endocrine neoplasia, type 2a [RCV000412172]|Multiple endocrine neoplasia, type 2b [RCV000411008]|not provided [RCV000679731]|not specified [RCV003320137] | Chr10:43119615 [GRCh38] Chr10:43615063 [GRCh37] Chr10:10q11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.1904G>A (p.Arg635His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002408893]|Hirschsprung disease, susceptibility to, 1 [RCV002485344]|Multiple endocrine neoplasia, type 2 [RCV000205542] | Chr10:43114504 [GRCh38] Chr10:43609952 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2246G>C (p.Arg749Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000561271]|Multiple endocrine neoplasia, type 2 [RCV000205614] | Chr10:43116693 [GRCh38] Chr10:43612141 [GRCh37] Chr10:10q11.21 |
benign|likely benign|uncertain significance |
NM_020975.6(RET):c.819C>T (p.Pro273=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000574624]|Multiple endocrine neoplasia, type 2 [RCV000205633] | Chr10:43105145 [GRCh38] Chr10:43600593 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2547C>T (p.Gly849=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001015918]|Multiple endocrine neoplasia, type 2 [RCV000205722]|not specified [RCV000454735] | Chr10:43119685 [GRCh38] Chr10:43615133 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.2284+54C>A | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002256118]|Multiple endocrine neoplasia, type 2 [RCV000205741]|Multiple endocrine neoplasia, type 2a [RCV000663014]|not provided [RCV000727042]|not specified [RCV000597255] | Chr10:43116785 [GRCh38] Chr10:43612233 [GRCh37] Chr10:10q11.21 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.2298G>A (p.Pro766=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001015052]|Multiple endocrine neoplasia, type 2 [RCV000205891]|Multiple endocrine neoplasia, type 2a [RCV000410239]|Multiple endocrine neoplasia, type 2b [RCV000412216]|not provided [RCV002225506] | Chr10:43118386 [GRCh38] Chr10:43613834 [GRCh37] Chr10:10q11.21 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.2544G>A (p.Met848Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001015870]|Multiple endocrine neoplasia, type 2 [RCV000205988] | Chr10:43119682 [GRCh38] Chr10:43615130 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.832A>G (p.Thr278Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001017556]|Hirschsprung disease, susceptibility to, 1 [RCV002485347]|Multiple endocrine neoplasia, type 2 [RCV000205998]|Multiple endocrine neoplasia, type 2a [RCV000662513] | Chr10:43105158 [GRCh38] Chr10:43600606 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.159C>T (p.Val53=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001012368]|Multiple endocrine neoplasia, type 2 [RCV000206133] | Chr10:43100544 [GRCh38] Chr10:43595992 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1064-6C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001079999]|not provided [RCV000679708] | Chr10:43109025 [GRCh38] Chr10:43604473 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.682G>C (p.Ala228Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000571565]|Hirschsprung disease, susceptibility to, 1 [RCV002494530]|Multiple endocrine neoplasia, type 2 [RCV000206221]|RET-related condition [RCV003977568]|not provided [RCV003148679] | Chr10:43105008 [GRCh38] Chr10:43600456 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.2887C>A (p.Leu963Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001016859]|Hirschsprung disease, susceptibility to, 1 [RCV003462384]|Multiple endocrine neoplasia, type 2 [RCV000206385]|Multiple endocrine neoplasia, type 2a [RCV000662412]|not provided [RCV003441786] | Chr10:43123756 [GRCh38] Chr10:43619204 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.868-18G>A | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000210769]|Multiple endocrine neoplasia, type 2 [RCV000206444]|Multiple endocrine neoplasia, type 2a [RCV000409257]|Multiple endocrine neoplasia, type 2b [RCV000411696]|not provided [RCV001675672]|not specified [RCV000242363] | Chr10:43106358 [GRCh38] Chr10:43601806 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.3265A>C (p.Arg1089=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001481211] | Chr10:43128189 [GRCh38] Chr10:43623637 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1253G>A (p.Arg418Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000561732]|Hirschsprung disease, susceptibility to, 1 [RCV002494521]|Multiple endocrine neoplasia, type 2 [RCV000206643]|not provided [RCV002285278] | Chr10:43109220 [GRCh38] Chr10:43604668 [GRCh37] Chr10:10q11.21 |
benign|uncertain significance |
NM_020975.6(RET):c.3206G>C (p.Trp1069Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002321813]|Hirschsprung disease, susceptibility to, 1 [RCV003468952]|Multiple endocrine neoplasia, type 2 [RCV000204078]|Multiple endocrine neoplasia, type 2a [RCV000409674]|Multiple endocrine neoplasia, type 2b [RCV000411663] | Chr10:43128130 [GRCh38] Chr10:43623578 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2136+15_2136+35del | deletion | Multiple endocrine neoplasia, type 2 [RCV000204171] | Chr10:43114745..43114765 [GRCh38] Chr10:43610193..43610213 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1017G>A (p.Ser339=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000573318]|Multiple endocrine neoplasia, type 2 [RCV000204203]|Multiple endocrine neoplasia, type 2a [RCV000411051]|Multiple endocrine neoplasia, type 2b [RCV000409969]|not provided [RCV003417752] | Chr10:43106525 [GRCh38] Chr10:43601973 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.68G>A (p.Gly23Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000563458]|Multiple endocrine neoplasia, type 2 [RCV001047359] | Chr10:43077326 [GRCh38] Chr10:43572774 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.76G>T (p.Ala26Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000546416] | Chr10:43100461 [GRCh38] Chr10:43595909 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.973G>A (p.Ala325Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000566312]|Hirschsprung disease, susceptibility to, 1 [RCV003459267]|Multiple endocrine neoplasia, type 2 [RCV000528670]|Multiple endocrine neoplasia, type 2a [RCV000709105]|not provided [RCV003327423] | Chr10:43106481 [GRCh38] Chr10:43601929 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.46C>T (p.Leu16=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001022921]|Multiple endocrine neoplasia, type 2 [RCV000526087] | Chr10:43077304 [GRCh38] Chr10:43572752 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1863G>C (p.Glu621Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000562077] | Chr10:43113659 [GRCh38] Chr10:43609107 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1015T>C (p.Ser339Pro) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001064909] | Chr10:43106523 [GRCh38] Chr10:43601971 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1765A>T (p.Ser589Cys) | single nucleotide variant | not provided [RCV000756596] | Chr10:43113561 [GRCh38] Chr10:43609009 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2548G>T (p.Asp850Tyr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000217246]|Multiple endocrine neoplasia, type 2 [RCV000469457]|not provided [RCV002464149] | Chr10:43119686 [GRCh38] Chr10:43615134 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.828C>G (p.Val276=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000222079]|Multiple endocrine neoplasia, type 2 [RCV000936978] | Chr10:43105154 [GRCh38] Chr10:43600602 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2913G>A (p.Glu971=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000222154]|Multiple endocrine neoplasia, type 2 [RCV002515693] | Chr10:43123782 [GRCh38] Chr10:43619230 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2462A>G (p.Lys821Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000217517] | Chr10:43119600 [GRCh38] Chr10:43615048 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2492G>T (p.Gly831Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000220151]|Multiple endocrine neoplasia, type 2 [RCV001225645] | Chr10:43119630 [GRCh38] Chr10:43615078 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.20G>A (p.Gly7Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000567089]|Hirschsprung disease, susceptibility to, 1 [RCV002497216]|Hirschsprung disease, susceptibility to, 1 [RCV003459397]|Malignant tumor of breast [RCV001269372]|Multiple endocrine neoplasia, type 2 [RCV000688487]|not provided [RCV003314623] | Chr10:43077278 [GRCh38] Chr10:43572726 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.981G>C (p.Gln327His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000217812]|Multiple endocrine neoplasia, type 2 [RCV002518253] | Chr10:43106489 [GRCh38] Chr10:43601937 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1437C>A (p.Ala479=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000217892]|Multiple endocrine neoplasia, type 2 [RCV002057209] | Chr10:43111380 [GRCh38] Chr10:43606828 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1266C>T (p.Ile422=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000213826]|Multiple endocrine neoplasia, type 2 [RCV000654617]|RET-related condition [RCV003897499] | Chr10:43111209 [GRCh38] Chr10:43606657 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1521A>T (p.Ser507=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000220346]|not provided [RCV003417794] | Chr10:43111464 [GRCh38] Chr10:43606912 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2485A>G (p.Ser829Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000220486]|Multiple endocrine neoplasia, type 2 [RCV000560108] | Chr10:43119623 [GRCh38] Chr10:43615071 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.2461A>G (p.Lys821Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000220695]|Multiple endocrine neoplasia, type 2 [RCV000692117] | Chr10:43119599 [GRCh38] Chr10:43615047 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2719A>C (p.Lys907Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000222470]|Multiple endocrine neoplasia, type 2 [RCV001059376] | Chr10:43120192 [GRCh38] Chr10:43615640 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1523-236C>G | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000208981] | Chr10:43111863 [GRCh38] Chr10:43607311 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1341C>T (p.Ala447=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000214454] | Chr10:43111284 [GRCh38] Chr10:43606732 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.544C>T (p.Pro182Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000216372]|Multiple endocrine neoplasia, type 2 [RCV000555816] | Chr10:43102548 [GRCh38] Chr10:43597996 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1066C>T (p.Leu356=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000218715] | Chr10:43109033 [GRCh38] Chr10:43604481 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1445A>G (p.His482Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000221247]|Multiple endocrine neoplasia, type 2 [RCV001853590] | Chr10:43111388 [GRCh38] Chr10:43606836 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1649-5T>C | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000222946]|Multiple endocrine neoplasia, type 2 [RCV000533098] | Chr10:43112848 [GRCh38] Chr10:43608296 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.2607+3G>C | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000221313]|Hirschsprung disease, susceptibility to, 1 [RCV002478808]|Multiple endocrine neoplasia, type 2 [RCV001853607] | Chr10:43119748 [GRCh38] Chr10:43615196 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.-2C>A | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000572702]|Hirschsprung disease, susceptibility to, 1 [RCV002503860]|RET-related condition [RCV003919883]|not provided [RCV001580474]|not specified [RCV000221356] | Chr10:43077257 [GRCh38] Chr10:43572705 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.45G>A (p.Leu15=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000221426]|Multiple endocrine neoplasia, type 2 [RCV001456423]|not provided [RCV000679751] | Chr10:43077303 [GRCh38] Chr10:43572751 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.156C>T (p.Tyr52=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002404574]|Multiple endocrine neoplasia, type 2 [RCV000543224] | Chr10:43100541 [GRCh38] Chr10:43595989 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2548G>A (p.Asp850Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000216677]|Multiple endocrine neoplasia, type 2 [RCV001857757] | Chr10:43119686 [GRCh38] Chr10:43615134 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1998G>C (p.Lys666Asn) | single nucleotide variant | Familial medullary thyroid carcinoma [RCV001589145]|Hereditary cancer-predisposing syndrome [RCV000219014]|Hirschsprung disease, susceptibility to, 1 [RCV003462451]|Multiple endocrine neoplasia, type 2 [RCV000556223]|Multiple endocrine neoplasia, type 2a [RCV003137821]|Multiple endocrine neoplasia, type 2b [RCV002265692]|Multiple endocrine neoplasia, type 2b [RCV002463360]|RET-related condition [RCV003919888] | Chr10:43114598 [GRCh38] Chr10:43610046 [GRCh37] Chr10:10q11.21 |
pathogenic|likely pathogenic|uncertain significance|not provided |
NM_020975.6(RET):c.169C>T (p.Arg57Trp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000219195]|Multiple endocrine neoplasia, type 2 [RCV001857759] | Chr10:43100554 [GRCh38] Chr10:43596002 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3039+5G>C | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000216936] | Chr10:43124987 [GRCh38] Chr10:43620435 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2287A>G (p.Asn763Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002444920]|Multiple endocrine neoplasia, type 2 [RCV000229757] | Chr10:43118375 [GRCh38] Chr10:43613823 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1050C>T (p.Thr350=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000569281]|Hirschsprung disease, susceptibility to, 1 [RCV002500809]|Multiple endocrine neoplasia, type 2 [RCV001079493]|RET-related condition [RCV003939884]|not provided [RCV001812652] | Chr10:43106558 [GRCh38] Chr10:43602006 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.3113C>T (p.Thr1038Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000567853]|Hirschsprung disease, susceptibility to, 1 [RCV002500812]|Multiple endocrine neoplasia, type 2 [RCV000228519]|not provided [RCV001589196]|not specified [RCV001820760] | Chr10:43126648 [GRCh38] Chr10:43622096 [GRCh37] Chr10:10q11.21 |
likely pathogenic|likely benign|uncertain significance |
NM_020975.6(RET):c.139G>A (p.Gly47Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002392716]|Multiple endocrine neoplasia, type 2 [RCV000230397]|Multiple endocrine neoplasia, type 2a [RCV000662387]|not specified [RCV001820759] | Chr10:43100524 [GRCh38] Chr10:43595972 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.296G>A (p.Arg99Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001017730]|Multiple endocrine neoplasia, type 2 [RCV000230694] | Chr10:43100681 [GRCh38] Chr10:43596129 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.3201G>A (p.Pro1067=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002321885]|Multiple endocrine neoplasia, type 2 [RCV001446501] | Chr10:43128125 [GRCh38] Chr10:43623573 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1866C>G (p.Pro622=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001013449]|Multiple endocrine neoplasia, type 2 [RCV000228979]|not specified [RCV002479927] | Chr10:43113662 [GRCh38] Chr10:43609110 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.3333G>A (p.Thr1111=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001020014]|Multiple endocrine neoplasia, type 2 [RCV000229289] | Chr10:43128257 [GRCh38] Chr10:43623705 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3203del (p.Asn1068fs) | deletion | Multiple endocrine neoplasia, type 2 [RCV000231461] | Chr10:43128126 [GRCh38] Chr10:43623574 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1921G>A (p.Ala641Thr) | single nucleotide variant | Familial medullary thyroid carcinoma [RCV001292757]|Hereditary cancer-predisposing syndrome [RCV002411060]|Hirschsprung disease, susceptibility to, 1 [RCV002487084]|Hirschsprung disease, susceptibility to, 1 [RCV003463677]|Multiple endocrine neoplasia, type 2 [RCV000229577]|Multiple endocrine neoplasia, type 2a [RCV000662388]|not provided [RCV002508206] | Chr10:43114521 [GRCh38] Chr10:43609969 [GRCh37] Chr10:10q11.21 |
pathogenic|likely benign|uncertain significance |
NM_020975.6(RET):c.3142C>T (p.Leu1048Phe) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000561888]|Multiple endocrine neoplasia, type 2 [RCV001087687]|not provided [RCV000679745] | Chr10:43126677 [GRCh38] Chr10:43622125 [GRCh37] Chr10:10q11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.2052G>A (p.Pro684=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000566200]|Hirschsprung disease, susceptibility to, 1 [RCV000300341]|Multiple endocrine neoplasia [RCV000273369]|Multiple endocrine neoplasia, type 2 [RCV001082755]|Pheochromocytoma [RCV000263785]|Renal hypodysplasia/aplasia 1 [RCV000369018]|not provided [RCV000679726]|not specified [RCV000616095] | Chr10:43114652 [GRCh38] Chr10:43610100 [GRCh37] Chr10:10q11.21 |
benign|likely benign|uncertain significance |
NM_020975.6(RET):c.3149G>A (p.Arg1050Gln) | single nucleotide variant | Hereditary cancer [RCV003492013]|Hereditary cancer-predisposing syndrome [RCV000563947]|Hirschsprung disease, susceptibility to, 1 [RCV003463679]|Multiple endocrine neoplasia, type 2 [RCV000225774]|Multiple endocrine neoplasia, type 2b [RCV001196701]|not provided [RCV000679746] | Chr10:43126684 [GRCh38] Chr10:43622132 [GRCh37] Chr10:10q11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.1063+9G>A | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002256169]|Hirschsprung disease, susceptibility to, 1 [RCV001103996]|Multiple endocrine neoplasia [RCV001103999]|Multiple endocrine neoplasia, type 2 [RCV000232595]|Multiple endocrine neoplasia, type 2a [RCV000409561]|Multiple endocrine neoplasia, type 2b [RCV000412024]|Pheochromocytoma [RCV001103997]|RET-related condition [RCV003897561]|Renal hypodysplasia/aplasia 1 [RCV001103998]|not provided [RCV001567894]|not specified [RCV000454826] | Chr10:43106580 [GRCh38] Chr10:43602028 [GRCh37] Chr10:10q11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.2607+3G>A | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002429132]|Multiple endocrine neoplasia, type 2 [RCV000232760]|RET-related condition [RCV003955365] | Chr10:43119748 [GRCh38] Chr10:43615196 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1538C>T (p.Ala513Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001012091]|Multiple endocrine neoplasia, type 2 [RCV000230991]|Multiple endocrine neoplasia, type 2a [RCV000662955] | Chr10:43112114 [GRCh38] Chr10:43607562 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2554A>G (p.Ile852Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001015912]|Multiple endocrine neoplasia, type 2 [RCV001080707]|Multiple endocrine neoplasia, type 2b [RCV003316302]|not provided [RCV000679733] | Chr10:43119692 [GRCh38] Chr10:43615140 [GRCh37] Chr10:10q11.21 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.2742A>G (p.Pro914=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000571907]|Hirschsprung disease, susceptibility to, 1 [RCV002494658]|Multiple endocrine neoplasia, type 2 [RCV000231230]|RET-related condition [RCV003897562] | Chr10:43121957 [GRCh38] Chr10:43617405 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.57_65dup (p.Leu22_Gly23insProLeuLeu) | duplication | Hereditary cancer-predisposing syndrome [RCV002347912]|Multiple endocrine neoplasia, type 2 [RCV000225980] | Chr10:43077308..43077309 [GRCh38] Chr10:43572756..43572757 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2427C>T (p.Tyr809=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000573753]|Hirschsprung disease, susceptibility to, 1 [RCV002500810]|Multiple endocrine neoplasia, type 2 [RCV000233277] | Chr10:43119565 [GRCh38] Chr10:43615013 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.2538C>T (p.Leu846=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000565745]|Hirschsprung disease, susceptibility to, 1 [RCV001105911]|Multiple endocrine neoplasia [RCV001105912]|Multiple endocrine neoplasia, type 2 [RCV000227054]|Pheochromocytoma [RCV001105914]|Renal hypodysplasia/aplasia 1 [RCV001105913]|not provided [RCV003477834]|not specified [RCV002469084] | Chr10:43119676 [GRCh38] Chr10:43615124 [GRCh37] Chr10:10q11.21 |
benign|likely benign|uncertain significance |
NM_020975.6(RET):c.1777G>A (p.Gly593Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002401902]|Multiple endocrine neoplasia, type 2 [RCV000233935]|Multiple endocrine neoplasia, type 2a [RCV000662885] | Chr10:43113573 [GRCh38] Chr10:43609021 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2397G>C (p.Pro799=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002444921]|Multiple endocrine neoplasia, type 2 [RCV000227577] | Chr10:43119535 [GRCh38] Chr10:43614983 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1462A>T (p.Thr488Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001011698]|Hirschsprung disease, susceptibility to, 1 [RCV001107140]|Multiple endocrine neoplasia [RCV001107800]|Multiple endocrine neoplasia, type 2 [RCV000234316]|Multiple endocrine neoplasia, type 2a [RCV000709111]|Pheochromocytoma [RCV001107139]|Renal hypodysplasia/aplasia 1 [RCV001107138]|not provided [RCV001770206] | Chr10:43111405 [GRCh38] Chr10:43606853 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.528T>G (p.Ile176Met) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000233343] | Chr10:43102532 [GRCh38] Chr10:43597980 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.624G>T (p.Glu208Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000565461]|Multiple endocrine neoplasia, type 2 [RCV000233399]|RET-related condition [RCV003919977] | Chr10:43102628 [GRCh38] Chr10:43598076 [GRCh37] Chr10:10q11.21 |
benign|likely benign|uncertain significance |
NM_020975.6(RET):c.2802-4G>T | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000564506]|Multiple endocrine neoplasia, type 2 [RCV000234020]|Multiple endocrine neoplasia, type 2a [RCV000662545]|RET-related condition [RCV003897563] | Chr10:43123667 [GRCh38] Chr10:43619115 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.2085C>G (p.Pro695=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002418024]|Multiple endocrine neoplasia, type 2 [RCV001402288] | Chr10:43114685 [GRCh38] Chr10:43610133 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3247A>G (p.Thr1083Ala) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000226511] | Chr10:43128171 [GRCh38] Chr10:43623619 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1915G>A (p.Ala639Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001013684]|Hirschsprung disease, susceptibility to, 1 [RCV003469160]|Multiple endocrine neoplasia, type 2 [RCV000226795]|Multiple endocrine neoplasia, type 2a [RCV000410332]|Multiple endocrine neoplasia, type 2b [RCV000409197]|not provided [RCV000679725] | Chr10:43114515 [GRCh38] Chr10:43609963 [GRCh37] Chr10:10q11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.3005G>A (p.Ser1002Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001018013]|Hirschsprung disease, susceptibility to, 1 [RCV002500811]|Hirschsprung disease, susceptibility to, 1 [RCV003463678]|Multiple endocrine neoplasia, type 2 [RCV000234755]|not provided [RCV000992303] | Chr10:43124948 [GRCh38] Chr10:43620396 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.2898C>T (p.Thr966=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002436038]|Multiple endocrine neoplasia, type 2 [RCV000229060] | Chr10:43123767 [GRCh38] Chr10:43619215 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1522+35C>T | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002257596]|Multiple endocrine neoplasia, type 2 [RCV000227098]|Multiple endocrine neoplasia, type 2a [RCV000412335]|Multiple endocrine neoplasia, type 2b [RCV000410817]|RET-related condition [RCV003947794]|not provided [RCV001172033]|not specified [RCV000456055] | Chr10:43111500 [GRCh38] Chr10:43606948 [GRCh37] Chr10:10q11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.1092C>T (p.Ile364=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002444919]|Multiple endocrine neoplasia, type 2 [RCV000227493] | Chr10:43109059 [GRCh38] Chr10:43604507 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2939+7G>A | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV001102949]|Multiple endocrine neoplasia [RCV001108156]|Multiple endocrine neoplasia, type 2 [RCV000526600]|Pheochromocytoma [RCV001108157]|Renal hypodysplasia/aplasia 1 [RCV001102948] | Chr10:43123815 [GRCh38] Chr10:43619263 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1264-8C>T | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV001107718]|Multiple endocrine neoplasia [RCV001107717]|Multiple endocrine neoplasia, type 2 [RCV001079777]|Pheochromocytoma [RCV001107716]|RET-related condition [RCV003905475]|Renal hypodysplasia/aplasia 1 [RCV001107715] | Chr10:43111199 [GRCh38] Chr10:43606647 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.2418C>G (p.Tyr806Ter) | single nucleotide variant | not provided [RCV000314983] | Chr10:43119556 [GRCh38] Chr10:43615004 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.2496C>G (p.Ser832Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000562690]|Hirschsprung disease, susceptibility to, 1 [RCV003459401]|Multiple endocrine neoplasia, type 2 [RCV002528996] | Chr10:43119634 [GRCh38] Chr10:43615082 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3252C>T (p.Asn1084=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000562831]|Multiple endocrine neoplasia, type 2 [RCV001396608] | Chr10:43128176 [GRCh38] Chr10:43623624 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.322A>C (p.Lys108Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001019322]|Multiple endocrine neoplasia, type 2 [RCV000546040]|Multiple endocrine neoplasia, type 2b [RCV003316732]|RET-related condition [RCV003935556]|not provided [RCV003237925] | Chr10:43100707 [GRCh38] Chr10:43596155 [GRCh37] Chr10:10q11.21 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.718G>C (p.Val240Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000565358]|Hirschsprung disease, susceptibility to, 1 [RCV001103893]|Multiple endocrine neoplasia [RCV001103894]|Multiple endocrine neoplasia, type 2 [RCV000533533]|Pheochromocytoma [RCV001103892]|Renal hypodysplasia/aplasia 1 [RCV001103895] | Chr10:43105044 [GRCh38] Chr10:43600492 [GRCh37] Chr10:10q11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.109T>C (p.Trp37Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002448800]|Multiple endocrine neoplasia, type 2 [RCV000530645] | Chr10:43100494 [GRCh38] Chr10:43595942 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.868-6C>T | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002256185]|Hirschsprung disease, susceptibility to, 1 [RCV002487137]|Multiple endocrine neoplasia, type 2 [RCV000871257]|not specified [RCV000246361] | Chr10:43106370 [GRCh38] Chr10:43601818 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3059C>T (p.Ala1020Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001018359]|Hirschsprung disease, susceptibility to, 1 [RCV002476202]|Hirschsprung disease, susceptibility to, 1 [RCV003470794]|Multiple endocrine neoplasia, type 2 [RCV000528285]|not provided [RCV000679742] | Chr10:43126594 [GRCh38] Chr10:43622042 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1668C>G (p.Ser556=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000568831]|Hirschsprung disease, susceptibility to, 1 [RCV002487136]|Multiple endocrine neoplasia, type 2 [RCV000654609]|not specified [RCV000247325] | Chr10:43112872 [GRCh38] Chr10:43608320 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.236G>A (p.Arg79Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001015313]|Hirschsprung disease, susceptibility to, 1 [RCV002483498]|Multiple endocrine neoplasia, type 2 [RCV000528844] | Chr10:43100621 [GRCh38] Chr10:43596069 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2284+47C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2b [RCV003316445]|not provided [RCV001689905]|not specified [RCV000247832] | Chr10:43116778 [GRCh38] Chr10:43612226 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.1029C>T (p.Asn343=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002379086]|Multiple endocrine neoplasia, type 2 [RCV000654602]|not provided [RCV001531057]|not specified [RCV000250278] | Chr10:43106537 [GRCh38] Chr10:43601985 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1908G>A (p.Thr636=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000572452]|Multiple endocrine neoplasia, type 2 [RCV000654622]|Multiple endocrine neoplasia, type 2b [RCV003316444]|not specified [RCV000252880] | Chr10:43114508 [GRCh38] Chr10:43609956 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.867+48A>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001520524]|Multiple endocrine neoplasia, type 2a [RCV000662666]|Multiple endocrine neoplasia, type 2b [RCV001795464]|Pheochromocytoma [RCV001795463]|not specified [RCV000250629] | Chr10:43105241 [GRCh38] Chr10:43600689 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.199C>T (p.Arg67Cys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001013993]|Hirschsprung disease, susceptibility to, 1 [RCV002491104]|Hirschsprung disease, susceptibility to, 1 [RCV003459264]|Multiple endocrine neoplasia, type 2 [RCV000530005] | Chr10:43100584 [GRCh38] Chr10:43596032 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2607+24C>T | single nucleotide variant | not specified [RCV000248289] | Chr10:43119769 [GRCh38] Chr10:43615217 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.*1870C>T | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000271290]|Multiple endocrine neoplasia [RCV000267080]|Pheochromocytoma [RCV000376881]|Renal hypodysplasia/aplasia 1 [RCV000322214] | Chr10:43130139 [GRCh38] Chr10:43625587 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.2876G>A (p.Arg959Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000568661]|Hirschsprung disease, susceptibility to, 1 [RCV000268422]|Hirschsprung disease, susceptibility to, 1 [RCV002494937]|Multiple endocrine neoplasia [RCV000406955]|Multiple endocrine neoplasia, type 2 [RCV000654551]|Pheochromocytoma [RCV000358250]|Renal hypodysplasia/aplasia 1 [RCV000303500]|not provided [RCV003165811] | Chr10:43123745 [GRCh38] Chr10:43619193 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.*1489G>A | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000302417]|Multiple endocrine neoplasia [RCV000400648]|Pheochromocytoma [RCV000305790]|Renal hypodysplasia/aplasia 1 [RCV000360640] | Chr10:43129758 [GRCh38] Chr10:43625206 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.*368G>T | single nucleotide variant | Hirschsprung Disease, Dominant [RCV000390066]|Multiple endocrine neoplasia [RCV000269418]|Pheochromocytoma [RCV000369487]|Renal hypodysplasia/aplasia 1 [RCV000312483] | Chr10:43128637 [GRCh38] Chr10:43624085 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.*1591G>A | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000286208]|Multiple endocrine neoplasia [RCV000341099]|Pheochromocytoma [RCV000393344]|Renal hypodysplasia/aplasia 1 [RCV000393339]|not provided [RCV001778889] | Chr10:43129860 [GRCh38] Chr10:43625308 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.2070C>T (p.Ser690=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000574739]|Hirschsprung disease, susceptibility to, 1 [RCV000325905]|Multiple endocrine neoplasia [RCV000333157]|Multiple endocrine neoplasia, type 2 [RCV000542961]|Multiple endocrine neoplasia, type 2a [RCV000662709]|Pheochromocytoma [RCV000387715]|Renal hypodysplasia/aplasia 1 [RCV000270886] | Chr10:43114670 [GRCh38] Chr10:43610118 [GRCh37] Chr10:10q11.21 |
benign|likely benign|uncertain significance |
NM_020975.6(RET):c.220G>A (p.Gly74Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001014798]|Hirschsprung disease, susceptibility to, 1 [RCV000323687]|Multiple endocrine neoplasia [RCV000270926]|Multiple endocrine neoplasia, type 2 [RCV000551141]|Ovarian cancer [RCV003153553]|Pheochromocytoma [RCV000329067]|Renal hypodysplasia/aplasia 1 [RCV000363157] | Chr10:43100605 [GRCh38] Chr10:43596053 [GRCh37] Chr10:10q11.21 |
benign|likely benign|uncertain significance |
NM_020975.6(RET):c.*1506G>A | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000362237]|Multiple endocrine neoplasia [RCV000326221]|Pheochromocytoma [RCV000366478]|Renal hypodysplasia/aplasia 1 [RCV000271216]|not provided [RCV001618518] | Chr10:43129775 [GRCh38] Chr10:43625223 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.*388G>A | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000308196]|Multiple endocrine neoplasia [RCV000321083]|Pheochromocytoma [RCV000365222]|Renal hypodysplasia/aplasia 1 [RCV000272787] | Chr10:43128657 [GRCh38] Chr10:43624105 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.2467G>A (p.Gly823Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001015632]|Hirschsprung Disease, Dominant [RCV000362457]|Multiple endocrine neoplasia [RCV000393505]|Multiple endocrine neoplasia, type 2 [RCV002520586]|Pheochromocytoma [RCV000307731]|Renal hypodysplasia/aplasia 1 [RCV000272691] | Chr10:43119605 [GRCh38] Chr10:43615053 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.*1742G>A | single nucleotide variant | Hirschsprung Disease, Dominant [RCV000396957]|Multiple endocrine neoplasia [RCV000383450]|Pheochromocytoma [RCV000289145]|Renal hypodysplasia/aplasia 1 [RCV000344157] | Chr10:43130011 [GRCh38] Chr10:43625459 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.*1599G>A | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000310427]|Multiple endocrine neoplasia [RCV000307007]|Pheochromocytoma [RCV000364996]|Renal hypodysplasia/aplasia 1 [RCV000390291] | Chr10:43129868 [GRCh38] Chr10:43625316 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.*1130A>G | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000345577]|Multiple endocrine neoplasia [RCV000339613]|Pheochromocytoma [RCV000384769]|Renal hypodysplasia/aplasia 1 [RCV000290403]|not provided [RCV003311742] | Chr10:43129399 [GRCh38] Chr10:43624847 [GRCh37] Chr10:10q11.21 |
benign|likely benign|uncertain significance |
NM_020975.6(RET):c.1523-7C>T | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000407084]|Hirschsprung disease, susceptibility to, 1 [RCV002504056]|Multiple endocrine neoplasia [RCV000309086]|Multiple endocrine neoplasia, type 2 [RCV000871046]|Pheochromocytoma [RCV000362668]|RET-related condition [RCV003930264]|Renal hypodysplasia/aplasia 1 [RCV000358721] | Chr10:43112092 [GRCh38] Chr10:43607540 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.1420C>T (p.Arg474Trp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002392835]|Hirschsprung Disease, Dominant [RCV000352045]|Hirschsprung disease, susceptibility to, 1 [RCV003469251]|Multiple endocrine neoplasia [RCV000390089]|Multiple endocrine neoplasia, type 2 [RCV001239526]|Pheochromocytoma [RCV000292520]|RET-related condition [RCV003409465]|Renal hypodysplasia/aplasia 1 [RCV000402202]|not provided [RCV001840481] | Chr10:43111363 [GRCh38] Chr10:43606811 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.*1116T>C | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000284603]|Multiple endocrine neoplasia [RCV000260152]|Pheochromocytoma [RCV000324757]|Renal hypodysplasia/aplasia 1 [RCV000379318]|not provided [RCV001653477] | Chr10:43129385 [GRCh38] Chr10:43624833 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.1618A>G (p.Arg540Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000573672]|Hirschsprung disease, susceptibility to, 1 [RCV000359923]|Hirschsprung disease, susceptibility to, 1 [RCV002480091]|Microcephaly [RCV001252827]|Multiple endocrine neoplasia [RCV000263988]|Multiple endocrine neoplasia, type 2 [RCV000697839]|Ovarian cancer [RCV003153554]|Pheochromocytoma [RCV000260802]|Renal hypodysplasia/aplasia 1 [RCV000305137] | Chr10:43112194 [GRCh38] Chr10:43607642 [GRCh37] Chr10:10q11.21 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.*1644G>C | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000276517]|Multiple endocrine neoplasia [RCV000370937]|Pheochromocytoma [RCV000356657]|Renal hypodysplasia/aplasia 1 [RCV000331623] | Chr10:43129913 [GRCh38] Chr10:43625361 [GRCh37] Chr10:10q11.21 |
benign|likely benign|uncertain significance |
NM_020975.6(RET):c.*95C>T | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000368704]|Multiple endocrine neoplasia [RCV000276472]|Pheochromocytoma [RCV000311724]|Renal hypodysplasia/aplasia 1 [RCV000333449] | Chr10:43128364 [GRCh38] Chr10:43623812 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.*1558A>C | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000331932]|Multiple endocrine neoplasia [RCV000293204]|Pheochromocytoma [RCV000276991]|Renal hypodysplasia/aplasia 1 [RCV000386482] | Chr10:43129827 [GRCh38] Chr10:43625275 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.1162G>A (p.Val388Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002321978]|Hirschsprung disease, susceptibility to, 1 [RCV000312196]|Multiple endocrine neoplasia [RCV000370252]|Multiple endocrine neoplasia, type 2 [RCV000654549]|Pheochromocytoma [RCV000313283]|Renal hypodysplasia/aplasia 1 [RCV000393718]|not provided [RCV003480586] | Chr10:43109129 [GRCh38] Chr10:43604577 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.337+12G>A | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002255357]|Hirschsprung Disease, Dominant [RCV000351814]|Multiple endocrine neoplasia [RCV000346124]|Multiple endocrine neoplasia, type 2 [RCV002059550]|Multiple endocrine neoplasia, type 2a [RCV000411730]|Multiple endocrine neoplasia, type 2b [RCV000410692]|Pheochromocytoma [RCV000312273]|Renal hypodysplasia/aplasia 1 [RCV000390153]|not provided [RCV003417968]|not specified [RCV000605249] | Chr10:43100734 [GRCh38] Chr10:43596182 [GRCh37] Chr10:10q11.21 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_020975.6(RET):c.1879+14G>A | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000345576]|Multiple endocrine neoplasia [RCV000381315]|Multiple endocrine neoplasia, type 2 [RCV001850584]|Multiple endocrine neoplasia, type 2a [RCV000662734]|Pheochromocytoma [RCV000295350]|Renal hypodysplasia/aplasia 1 [RCV000389662] | Chr10:43113689 [GRCh38] Chr10:43609137 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.*84G>A | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000408384]|Multiple endocrine neoplasia [RCV000356032]|Pheochromocytoma [RCV000298834]|Renal hypodysplasia/aplasia 1 [RCV000263605] | Chr10:43128353 [GRCh38] Chr10:43623801 [GRCh37] Chr10:10q11.21 |
pathogenic|likely benign|uncertain significance |
NM_020975.6(RET):c.*1583G>A | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000320055]|Multiple endocrine neoplasia [RCV000280354]|Pheochromocytoma [RCV000374827]|Renal hypodysplasia/aplasia 1 [RCV000335170] | Chr10:43129852 [GRCh38] Chr10:43625300 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.*1212C>T | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000399183]|Multiple endocrine neoplasia [RCV000396896]|Pheochromocytoma [RCV000315236]|Renal hypodysplasia/aplasia 1 [RCV000351376] | Chr10:43129481 [GRCh38] Chr10:43624929 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.*1348G>A | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000336056]|Multiple endocrine neoplasia [RCV000395362]|Pheochromocytoma [RCV000280995]|Renal hypodysplasia/aplasia 1 [RCV000399812] | Chr10:43129617 [GRCh38] Chr10:43625065 [GRCh37] Chr10:10q11.21 |
benign|likely benign|uncertain significance |
NM_020975.6(RET):c.432C>T (p.Arg144=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000571664]|Hirschsprung disease, susceptibility to, 1 [RCV000305840]|Multiple endocrine neoplasia [RCV000318616]|Multiple endocrine neoplasia, type 2 [RCV000537322]|Pheochromocytoma [RCV000358174]|Renal hypodysplasia/aplasia 1 [RCV000265740] | Chr10:43102436 [GRCh38] Chr10:43597884 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.2050C>T (p.Pro684Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002418152]|Hirschsprung disease, susceptibility to, 1 [RCV000391239]|Multiple endocrine neoplasia [RCV000353999]|Multiple endocrine neoplasia, type 2 [RCV001069295]|Pheochromocytoma [RCV000298948]|Renal hypodysplasia/aplasia 1 [RCV000343375]|not provided [RCV003320629] | Chr10:43114650 [GRCh38] Chr10:43610098 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.*576G>A | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000346203]|Multiple endocrine neoplasia [RCV000395374]|Pheochromocytoma [RCV000340524]|Renal hypodysplasia/aplasia 1 [RCV000283152] | Chr10:43128845 [GRCh38] Chr10:43624293 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.*330A>G | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000286851]|Multiple endocrine neoplasia [RCV000378919]|Pheochromocytoma [RCV000283226]|Renal hypodysplasia/aplasia 1 [RCV000340605] | Chr10:43128599 [GRCh38] Chr10:43624047 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.*175C>G | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000381115]|Multiple endocrine neoplasia [RCV000384628]|Pheochromocytoma [RCV000270264]|Renal hypodysplasia/aplasia 1 [RCV000327627] | Chr10:43128444 [GRCh38] Chr10:43623892 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.890dup (p.Val298fs) | duplication | not provided [RCV000282821] | Chr10:43106397..43106398 [GRCh38] Chr10:43601845..43601846 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.596A>G (p.Asn199Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002356413]|Hirschsprung disease, susceptibility to, 1 [RCV000389327]|Multiple endocrine neoplasia [RCV000375547]|Multiple endocrine neoplasia, type 2 [RCV001297828]|Pheochromocytoma [RCV000260835]|Renal hypodysplasia/aplasia 1 [RCV000332410] | Chr10:43102600 [GRCh38] Chr10:43598048 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.*1659T>C | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000347551]|Multiple endocrine neoplasia [RCV000377190]|Pheochromocytoma [RCV000282802]|Renal hypodysplasia/aplasia 1 [RCV000322689] | Chr10:43129928 [GRCh38] Chr10:43625376 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.*1797T>G | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000261095]|Multiple endocrine neoplasia [RCV000361705]|Pheochromocytoma [RCV000355872]|Renal hypodysplasia/aplasia 1 [RCV000297500] | Chr10:43130066 [GRCh38] Chr10:43625514 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.276C>T (p.Thr92=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002436103]|Multiple endocrine neoplasia, type 2 [RCV001460357]|not provided [RCV000279485] | Chr10:43100661 [GRCh38] Chr10:43596109 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.*1233T>C | single nucleotide variant | Hirschsprung Disease, Dominant [RCV000298137]|Multiple endocrine neoplasia [RCV000311238]|Pheochromocytoma [RCV000261730]|Renal hypodysplasia/aplasia 1 [RCV000356720] | Chr10:43129502 [GRCh38] Chr10:43624950 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.*1646T>G | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000261803]|Multiple endocrine neoplasia [RCV000371557]|Pheochromocytoma [RCV000267584]|Renal hypodysplasia/aplasia 1 [RCV000316975] | Chr10:43129915 [GRCh38] Chr10:43625363 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.*538G>T | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000354821]|Multiple endocrine neoplasia [RCV000319656]|Pheochromocytoma [RCV000386112]|Renal hypodysplasia/aplasia 1 [RCV000262215] | Chr10:43128807 [GRCh38] Chr10:43624255 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.*749dup | duplication | Hirschsprung Disease, Dominant [RCV000299755]|Multiple endocrine neoplasia [RCV000331119]|Pheochromocytoma [RCV000273880]|Renal hypodysplasia/aplasia 1 [RCV000356820] | Chr10:43129013..43129014 [GRCh38] Chr10:43624461..43624462 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1119G>A (p.Ala373=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000566877]|Hirschsprung disease, susceptibility to, 1 [RCV001104292]|Multiple endocrine neoplasia [RCV001104290]|Multiple endocrine neoplasia, type 2 [RCV001084015]|Multiple endocrine neoplasia, type 2b [RCV003316464]|Pheochromocytoma [RCV001104293]|Renal hypodysplasia/aplasia 1 [RCV001104291]|not provided [RCV000679710]|not specified [RCV000282321] | Chr10:43109086 [GRCh38] Chr10:43604534 [GRCh37] Chr10:10q11.21 |
benign|likely benign|uncertain significance |
NM_020975.6(RET):c.*1109T>C | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000319027]|Multiple endocrine neoplasia [RCV000263902]|Pheochromocytoma [RCV000367893]|Renal hypodysplasia/aplasia 1 [RCV000373474] | Chr10:43129378 [GRCh38] Chr10:43624826 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.*1337A>T | single nucleotide variant | Hirschsprung Disease, Dominant [RCV000328952]|Multiple endocrine neoplasia [RCV000383496]|Pheochromocytoma [RCV000264397]|Renal hypodysplasia/aplasia 1 [RCV000288888] | Chr10:43129606 [GRCh38] Chr10:43625054 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.*1103C>T | single nucleotide variant | Hirschsprung Disease, Dominant [RCV000276919]|Multiple endocrine neoplasia [RCV000362150]|Pheochromocytoma [RCV000307482]|Renal hypodysplasia/aplasia 1 [RCV000313199] | Chr10:43129372 [GRCh38] Chr10:43624820 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.*763C>T | single nucleotide variant | Hirschsprung Disease, Dominant [RCV000369398]|Multiple endocrine neoplasia [RCV000325309]|Pheochromocytoma [RCV000382566]|Renal hypodysplasia/aplasia 1 [RCV000277277] | Chr10:43129032 [GRCh38] Chr10:43624480 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.*446A>G | single nucleotide variant | Hirschsprung Disease, Dominant [RCV000378016]|Multiple endocrine neoplasia [RCV000267044]|Pheochromocytoma [RCV000372391]|Renal hypodysplasia/aplasia 1 [RCV000324570] | Chr10:43128715 [GRCh38] Chr10:43624163 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.*1278del | deletion | Hirschsprung Disease, Dominant [RCV000322629]|Multiple endocrine neoplasia [RCV000377713]|Pheochromocytoma [RCV000267509]|Renal hypodysplasia/aplasia 1 [RCV000352985] | Chr10:43129543 [GRCh38] Chr10:43624991 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.*935C>A | single nucleotide variant | Hirschsprung Disease, Dominant [RCV000380262]|Multiple endocrine neoplasia [RCV000336369]|Pheochromocytoma [RCV000342111]|Renal hypodysplasia/aplasia 1 [RCV000278865] | Chr10:43129204 [GRCh38] Chr10:43624652 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2580G>A (p.Gln860=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002429252]|Hirschsprung Disease, Dominant [RCV000279714]|Multiple endocrine neoplasia [RCV000316068]|Multiple endocrine neoplasia, type 2 [RCV001428203]|Pheochromocytoma [RCV000375295]|Renal hypodysplasia/aplasia 1 [RCV000378390] | Chr10:43119718 [GRCh38] Chr10:43615166 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.*509A>G | single nucleotide variant | Hirschsprung Disease, Dominant [RCV000268470]|Multiple endocrine neoplasia [RCV000316349]|Pheochromocytoma [RCV000360823]|Renal hypodysplasia/aplasia 1 [RCV000303593] | Chr10:43128778 [GRCh38] Chr10:43624226 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.*453G>T | single nucleotide variant | Hirschsprung Disease, Dominant [RCV000280125]|Multiple endocrine neoplasia [RCV000375834]|Pheochromocytoma [RCV000293193]|Renal hypodysplasia/aplasia 1 [RCV000337622] | Chr10:43128722 [GRCh38] Chr10:43624170 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2378C>T (p.Ala793Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002456264]|Multiple endocrine neoplasia, type 2 [RCV000554041] | Chr10:43118466 [GRCh38] Chr10:43613914 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1378G>T (p.Asp460Tyr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002383940]|not provided [RCV000489253] | Chr10:43111321 [GRCh38] Chr10:43606769 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.464C>A (p.Pro155Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000568122]|Hirschsprung disease, susceptibility to, 1 [RCV003459265]|Multiple endocrine neoplasia, type 2 [RCV000547644] | Chr10:43102468 [GRCh38] Chr10:43597916 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1088C>G (p.Ser363Cys) | single nucleotide variant | not provided [RCV003239239] | Chr10:43109055 [GRCh38] Chr10:43604503 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.920C>T (p.Ser307Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000569302]|Hirschsprung disease, susceptibility to, 1 [RCV003459400]|Multiple endocrine neoplasia, type 2 [RCV001050297] | Chr10:43106428 [GRCh38] Chr10:43601876 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1566C>T (p.Ser522=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001012164]|Multiple endocrine neoplasia, type 2 [RCV000554444] | Chr10:43112142 [GRCh38] Chr10:43607590 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.440_442del (p.Phe147del) | deletion | not provided [RCV001269931] | Chr10:43102442..43102444 [GRCh38] Chr10:43597890..43597892 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.544C>A (p.Pro182Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003302930]|Multiple endocrine neoplasia, type 2 [RCV003117374]|not provided [RCV003128637]|not specified [RCV000602692] | Chr10:43102548 [GRCh38] Chr10:43597996 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.*600delinsTT | indel | Hirschsprung Disease, Dominant [RCV000305093]|Multiple endocrine neoplasia [RCV000352892]|Pheochromocytoma [RCV000398518]|Renal hypodysplasia/aplasia 1 [RCV000399835] | Chr10:43128869 [GRCh38] Chr10:43624317 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.-158G>A | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000285183]|Multiple endocrine neoplasia [RCV000342597]|Pheochromocytoma [RCV000284131]|Renal hypodysplasia/aplasia 1 [RCV000400846] | Chr10:43077101 [GRCh38] Chr10:43572549 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.*1345G>T | single nucleotide variant | Hirschsprung Disease, Dominant [RCV000348963]|Multiple endocrine neoplasia [RCV000325233]|Pheochromocytoma [RCV000294961]|Renal hypodysplasia/aplasia 1 [RCV000389194] | Chr10:43129614 [GRCh38] Chr10:43625062 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.*824G>T | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000376622]|Multiple endocrine neoplasia [RCV000290443]|Pheochromocytoma [RCV000284745]|Renal hypodysplasia/aplasia 1 [RCV000329039] | Chr10:43129093 [GRCh38] Chr10:43624541 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.*499dup | duplication | Hirschsprung Disease, Dominant [RCV000295662]|Multiple endocrine neoplasia [RCV000344726]|Pheochromocytoma [RCV000397284]|Renal hypodysplasia/aplasia 1 [RCV000350514] | Chr10:43128760..43128761 [GRCh38] Chr10:43624208..43624209 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2847A>G (p.Gly949=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002436139]|Hirschsprung Disease, Dominant [RCV000351301]|Multiple endocrine neoplasia [RCV000307108]|Multiple endocrine neoplasia, type 2 [RCV001453964]|Multiple endocrine neoplasia, type 2a [RCV000988349]|Pheochromocytoma [RCV000366161]|Renal hypodysplasia/aplasia 1 [RCV000399319] | Chr10:43123716 [GRCh38] Chr10:43619164 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.625G>A (p.Gly209Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000529908] | Chr10:43102629 [GRCh38] Chr10:43598077 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.*506G>T | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000406930]|Multiple endocrine neoplasia [RCV000400228]|Pheochromocytoma [RCV000366669]|Renal hypodysplasia/aplasia 1 [RCV000309584] | Chr10:43128775 [GRCh38] Chr10:43624223 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020630.5(RET):c.-200A>G | single nucleotide variant | Hirschsprung Disease, Dominant [RCV000281211]|Multiple endocrine neoplasia [RCV000265906]|Pheochromocytoma [RCV000375701]|Renal hypodysplasia/aplasia 1 [RCV000320981]|not provided [RCV001692084] | Chr10:43077059 [GRCh38] Chr10:43572507 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.1109T>A (p.Met370Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003298361]|Hirschsprung disease, susceptibility to, 1 [RCV000339810]|Multiple endocrine neoplasia [RCV000287203]|Multiple endocrine neoplasia, type 2 [RCV000692332]|Pheochromocytoma [RCV000327108]|Renal hypodysplasia/aplasia 1 [RCV000379414] | Chr10:43109076 [GRCh38] Chr10:43604524 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.-132G>T | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002256191]|Hirschsprung disease, susceptibility to, 1 [RCV000393831]|Multiple endocrine neoplasia [RCV000298833]|Pheochromocytoma [RCV000336868]|Renal hypodysplasia/aplasia 1 [RCV000369892] | Chr10:43077127 [GRCh38] Chr10:43572575 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.30G>A (p.Gly10=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001018644]|Multiple endocrine neoplasia, type 2 [RCV000553487] | Chr10:43077288 [GRCh38] Chr10:43572736 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3156C>T (p.Leu1052=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001018844]|Hirschsprung disease, susceptibility to, 1 [RCV002491105]|Multiple endocrine neoplasia, type 2 [RCV000553704] | Chr10:43126691 [GRCh38] Chr10:43622139 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.*553G>T | single nucleotide variant | Hirschsprung Disease, Dominant [RCV000332648]|Multiple endocrine neoplasia [RCV000294156]|Pheochromocytoma [RCV000288950]|Renal hypodysplasia/aplasia 1 [RCV000389582] | Chr10:43128822 [GRCh38] Chr10:43624270 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.*358G>T | single nucleotide variant | Hirschsprung Disease, Dominant [RCV000400079]|Multiple endocrine neoplasia [RCV000334795]|Pheochromocytoma [RCV000338153]|Renal hypodysplasia/aplasia 1 [RCV000299661] | Chr10:43128627 [GRCh38] Chr10:43624075 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.*1797T>C | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000313773]|Multiple endocrine neoplasia [RCV000349898]|Pheochromocytoma [RCV000301023]|Renal hypodysplasia/aplasia 1 [RCV000390500] | Chr10:43130066 [GRCh38] Chr10:43625514 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.*1020G>T | single nucleotide variant | Hirschsprung Disease, Dominant [RCV000349233]|Multiple endocrine neoplasia [RCV000390198]|Pheochromocytoma [RCV000390469]|Renal hypodysplasia/aplasia 1 [RCV000301310] | Chr10:43129289 [GRCh38] Chr10:43624737 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.5(RET):c.-196C>A | single nucleotide variant | Hirschsprung Disease, Dominant [RCV000317662]|Multiple endocrine neoplasia [RCV000295854]|Pheochromocytoma [RCV000372338]|Renal hypodysplasia/aplasia 1 [RCV000350719]|not provided [RCV000836537] | Chr10:43077063 [GRCh38] Chr10:43572511 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.342C>T (p.Arg114=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002341479]|Multiple endocrine neoplasia, type 2 [RCV000548604]|not specified [RCV002469200] | Chr10:43102346 [GRCh38] Chr10:43597794 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.-187C>A | single nucleotide variant | Hirschsprung Disease, Dominant [RCV000325032]|Multiple endocrine neoplasia [RCV000291019]|Pheochromocytoma [RCV000381849]|Renal hypodysplasia/aplasia 1 [RCV000383449] | Chr10:43077072 [GRCh38] Chr10:43572520 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1425dup (p.Pro476fs) | duplication | Inborn genetic diseases [RCV000622499] | Chr10:43111366..43111367 [GRCh38] Chr10:43606814..43606815 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.-37G>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000526991]|not provided [RCV002225663] | Chr10:43077222 [GRCh38] Chr10:43572670 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.741C>T (p.Ala247=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000565936]|Multiple endocrine neoplasia, type 2 [RCV001462174] | Chr10:43105067 [GRCh38] Chr10:43600515 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3126C>G (p.Asp1042Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002325101]|Multiple endocrine neoplasia, type 2 [RCV000531913] | Chr10:43126661 [GRCh38] Chr10:43622109 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3184T>A (p.Tyr1062Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000569046]|Multiple endocrine neoplasia, type 2 [RCV001361483] | Chr10:43126719 [GRCh38] Chr10:43622167 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.686T>C (p.Leu229Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003302888]|Multiple endocrine neoplasia, type 2 [RCV000555096] | Chr10:43105012 [GRCh38] Chr10:43600460 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1567A>C (p.Lys523Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001012166]|Hirschsprung disease, susceptibility to, 1 [RCV003470791]|Multiple endocrine neoplasia, type 2 [RCV000533025]|Multiple endocrine neoplasia, type 2a [RCV000709115] | Chr10:43112143 [GRCh38] Chr10:43607591 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.758T>A (p.Val253Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000567338] | Chr10:43105084 [GRCh38] Chr10:43600532 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.777G>A (p.Pro259=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000568910]|Multiple endocrine neoplasia, type 2 [RCV000654582]|not specified [RCV001584392] | Chr10:43105103 [GRCh38] Chr10:43600551 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1771G>A (p.Val591Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000573728]|Multiple endocrine neoplasia, type 2 [RCV000809432]|not provided [RCV003117341] | Chr10:43113567 [GRCh38] Chr10:43609015 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.2110G>T (p.Val704Phe) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000571517]|Hirschsprung disease, susceptibility to, 1 [RCV002480262]|Hirschsprung disease, susceptibility to, 1 [RCV003463814]|Multiple endocrine neoplasia, type 2 [RCV000690291]|Multiple endocrine neoplasia, type 2a [RCV000409974]|Multiple endocrine neoplasia, type 2b [RCV000412382] | Chr10:43114710 [GRCh38] Chr10:43610158 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2393-14C>T | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV001108068]|Multiple endocrine neoplasia [RCV001108069]|Multiple endocrine neoplasia, type 2 [RCV002058857]|Multiple endocrine neoplasia, type 2a [RCV000411041]|Multiple endocrine neoplasia, type 2b [RCV000409467]|Pheochromocytoma [RCV001102853]|Renal hypodysplasia/aplasia 1 [RCV001102854]|not specified [RCV001002253] | Chr10:43119517 [GRCh38] Chr10:43614965 [GRCh37] Chr10:10q11.21 |
benign|likely benign|uncertain significance |
NM_020975.6(RET):c.2136+15G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002058862]|Multiple endocrine neoplasia, type 2a [RCV000409522]|Multiple endocrine neoplasia, type 2b [RCV000411923]|not provided [RCV000679728] | Chr10:43114751 [GRCh38] Chr10:43610199 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.73+9278G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2a [RCV000410768]|Multiple endocrine neoplasia, type 2b [RCV000409618] | Chr10:43086609 [GRCh38] Chr10:43582057 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.337+29G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2a [RCV000409650]|Multiple endocrine neoplasia, type 2b [RCV000411638] | Chr10:43100751 [GRCh38] Chr10:43596199 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1879+13C>T | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV001107888]|Multiple endocrine neoplasia [RCV001107249]|Multiple endocrine neoplasia, type 2 [RCV002058859]|Multiple endocrine neoplasia, type 2a [RCV000410376]|Multiple endocrine neoplasia, type 2b [RCV000409694]|Pheochromocytoma [RCV001107887]|RET-related condition [RCV003932530]|Renal hypodysplasia/aplasia 1 [RCV001107248] | Chr10:43113688 [GRCh38] Chr10:43609136 [GRCh37] Chr10:10q11.21 |
benign|likely benign|uncertain significance |
NM_020975.6(RET):c.1879+17C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002058858]|Multiple endocrine neoplasia, type 2a [RCV000410729]|Multiple endocrine neoplasia, type 2b [RCV000409720] | Chr10:43113692 [GRCh38] Chr10:43609140 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.337+34C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2a [RCV000409765]|Multiple endocrine neoplasia, type 2b [RCV000411748] | Chr10:43100756 [GRCh38] Chr10:43596204 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1187C>T (p.Ser396Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000574133]|Hirschsprung disease, susceptibility to, 1 [RCV003463813]|Multiple endocrine neoplasia, type 2 [RCV000689688]|Multiple endocrine neoplasia, type 2a [RCV000411297]|Multiple endocrine neoplasia, type 2b [RCV000410233]|not specified [RCV000507135] | Chr10:43109154 [GRCh38] Chr10:43604602 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3040-11C>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002524632]|Multiple endocrine neoplasia, type 2a [RCV000410218]|Multiple endocrine neoplasia, type 2b [RCV000412117] | Chr10:43126564 [GRCh38] Chr10:43622012 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2648C>A (p.Ala883Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003353017]|not provided [RCV000757723] | Chr10:43120121 [GRCh38] Chr10:43615569 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3167G>A (p.Trp1056Ter) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000570468]|Multiple endocrine neoplasia, type 2 [RCV001853797] | Chr10:43126702 [GRCh38] Chr10:43622150 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.394C>A (p.Leu132Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000573093]|Multiple endocrine neoplasia, type 2 [RCV001342323] | Chr10:43102398 [GRCh38] Chr10:43597846 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.134C>A (p.Ala45Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000573335]|Multiple endocrine neoplasia, type 2 [RCV001062045] | Chr10:43100519 [GRCh38] Chr10:43595967 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1648+24G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2a [RCV000412231]|Multiple endocrine neoplasia, type 2b [RCV000411147] | Chr10:43112248 [GRCh38] Chr10:43607696 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3028G>T (p.Val1010Phe) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003159940]|Multiple endocrine neoplasia, type 2 [RCV000539495] | Chr10:43124971 [GRCh38] Chr10:43620419 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2392+6G>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000541616] | Chr10:43118486 [GRCh38] Chr10:43613934 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2268C>T (p.Ala756=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001014985]|Hirschsprung disease, susceptibility to, 1 [RCV002476200]|Multiple endocrine neoplasia, type 2 [RCV000535319]|not provided [RCV002060368] | Chr10:43116715 [GRCh38] Chr10:43612163 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.2886C>T (p.Asn962=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001016856]|Multiple endocrine neoplasia, type 2 [RCV000537835] | Chr10:43123755 [GRCh38] Chr10:43619203 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2403C>T (p.Leu801=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000572478]|Hirschsprung disease, susceptibility to, 1 [RCV001102856]|Multiple endocrine neoplasia [RCV001102857]|Multiple endocrine neoplasia, type 2 [RCV000869947]|Pheochromocytoma [RCV001102858]|Renal hypodysplasia/aplasia 1 [RCV001102855] | Chr10:43119541 [GRCh38] Chr10:43614989 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1312G>A (p.Val438Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003302887]|Hirschsprung disease, susceptibility to, 1 [RCV002483496]|Multiple endocrine neoplasia, type 2 [RCV000540480]|Multiple endocrine neoplasia, type 2a [RCV000663209]|RET-related condition [RCV003403341] | Chr10:43111255 [GRCh38] Chr10:43606703 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1295_1296inv (p.Ala432Val) | inversion | Hereditary cancer-predisposing syndrome [RCV002384265]|Multiple endocrine neoplasia, type 2 [RCV000538127]|RET-related condition [RCV003403340]|not provided [RCV003231531] | Chr10:43111238..43111239 [GRCh38] Chr10:43606686..43606687 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.2607+5G>A | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001016044]|Multiple endocrine neoplasia, type 2 [RCV001244630]|Multiple endocrine neoplasia, type 2a [RCV000663278]|not provided [RCV000413101]|not specified [RCV002469143] | Chr10:43119750 [GRCh38] Chr10:43615198 [GRCh37] Chr10:10q11.21 |
likely pathogenic|uncertain significance |
NM_020975.6(RET):c.444C>G (p.Ser148=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000572917]|Multiple endocrine neoplasia, type 2 [RCV000964772] | Chr10:43102448 [GRCh38] Chr10:43597896 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3143del (p.Leu1048fs) | deletion | Aganglionic megacolon [RCV000736280] | Chr10:43126678 [GRCh38] Chr10:43622126 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.361G>A (p.Val121Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000563413]|Multiple endocrine neoplasia, type 2 [RCV001062267]|not specified [RCV000413174] | Chr10:43102365 [GRCh38] Chr10:43597813 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.2254T>C (p.Tyr752His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000574440]|Multiple endocrine neoplasia, type 2 [RCV000815850]|not provided [RCV001755961] | Chr10:43116701 [GRCh38] Chr10:43612149 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1866C>T (p.Pro622=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000574500]|Multiple endocrine neoplasia, type 2 [RCV000654634]|Multiple endocrine neoplasia, type 2b [RCV003316746] | Chr10:43113662 [GRCh38] Chr10:43609110 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1756C>T (p.Leu586Phe) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002413647]|Hirschsprung disease, susceptibility to, 1 [RCV003470792]|Multiple endocrine neoplasia, type 2 [RCV000547048] | Chr10:43112960 [GRCh38] Chr10:43608408 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1958C>G (p.Ser653Cys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002420536]|Multiple endocrine neoplasia, type 2 [RCV000541231] | Chr10:43114558 [GRCh38] Chr10:43610006 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
GRCh37/hg19 10q11.21(chr10:43600657-43600691)x3 | copy number gain | See cases [RCV000447667] | Chr10:43600657..43600691 [GRCh37] Chr10:10q11.21 |
benign |
GRCh37/hg19 10q11.21(chr10:43600625-43600691)x3 | copy number gain | See cases [RCV000446438] | Chr10:43600625..43600691 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.2939+20G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002065064]|not specified [RCV000431301] | Chr10:43123828 [GRCh38] Chr10:43619276 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.73+9201C>T | single nucleotide variant | not specified [RCV000431506] | Chr10:43086532 [GRCh38] Chr10:43581980 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.1903C>T (p.Arg635Cys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001013629]|Hirschsprung disease, susceptibility to, 1 [RCV003459263]|Multiple endocrine neoplasia, type 2 [RCV000531061] | Chr10:43114503 [GRCh38] Chr10:43609951 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1894_1899del (p.Glu632_Leu633del) | deletion | Medullary thyroid carcinoma [RCV000438390]|Multiple endocrine neoplasia, type 2 [RCV001228445] | Chr10:43114494..43114499 [GRCh38] Chr10:43609942..43609947 [GRCh37] Chr10:10q11.21 |
likely pathogenic|uncertain significance |
NM_020975.6(RET):c.523C>T (p.Arg175Cys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001023784]|Multiple endocrine neoplasia, type 2 [RCV000461265]|not provided [RCV000425402] | Chr10:43102527 [GRCh38] Chr10:43597975 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3040-20C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002059891]|not provided [RCV000679740]|not specified [RCV000429057] | Chr10:43126555 [GRCh38] Chr10:43622003 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.937C>T (p.Arg313Trp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000572287]|Multiple endocrine neoplasia, type 2 [RCV001053927]|not provided [RCV000766922]|not specified [RCV000432509] | Chr10:43106445 [GRCh38] Chr10:43601893 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2694_2705del (p.Asp898_Glu901del) | deletion | Hereditary cancer-predisposing syndrome [RCV002429345]|Medullary thyroid carcinoma [RCV000433213] | Chr10:43120164..43120175 [GRCh38] Chr10:43615612..43615623 [GRCh37] Chr10:10q11.21 |
likely pathogenic|uncertain significance |
NM_020975.6(RET):c.2358T>C (p.His786=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002446707]|Hirschsprung disease, susceptibility to, 1 [RCV002502557]|Multiple endocrine neoplasia, type 2 [RCV000550429]|not specified [RCV000430358] | Chr10:43118446 [GRCh38] Chr10:43613894 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1834_1860del (p.Phe612_Cys620del) | deletion | Medullary thyroid carcinoma [RCV000420537] | Chr10:43113626..43113652 [GRCh38] Chr10:43609074..43609100 [GRCh37] Chr10:10q11.21 |
likely pathogenic |
NM_020975.6(RET):c.1201A>T (p.Ser401Cys) | single nucleotide variant | Congenital anomaly of kidney and urinary tract [RCV000416603]|Hereditary cancer-predisposing syndrome [RCV001010283]|Hirschsprung disease, susceptibility to, 1 [RCV003468970]|Multiple endocrine neoplasia, type 2 [RCV000560396] | Chr10:43109168 [GRCh38] Chr10:43604616 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 | copy number gain | See cases [RCV000448750] | Chr10:93297..135378918 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
NM_020975.6(RET):c.2943C>T (p.Tyr981=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000564140]|Multiple endocrine neoplasia, type 2 [RCV000459060]|RET-related condition [RCV003932724] | Chr10:43124886 [GRCh38] Chr10:43620334 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1236G>C (p.Val412=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000462830] | Chr10:43109203 [GRCh38] Chr10:43604651 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1173C>G (p.Leu391=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002329097]|Multiple endocrine neoplasia, type 2 [RCV000470158] | Chr10:43109140 [GRCh38] Chr10:43604588 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.650C>A (p.Ala217Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001025355]|Hirschsprung disease, susceptibility to, 1 [RCV002502615]|Multiple endocrine neoplasia, type 2 [RCV000470242]|RET-related condition [RCV003418158]|not provided [RCV001570499] | Chr10:43104976 [GRCh38] Chr10:43600424 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3117G>A (p.Pro1039=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001018705]|Multiple endocrine neoplasia, type 2 [RCV000470256]|not provided [RCV003478004] | Chr10:43126652 [GRCh38] Chr10:43622100 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1848G>A (p.Glu616=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002411530]|Multiple endocrine neoplasia, type 2 [RCV001459054] | Chr10:43113644 [GRCh38] Chr10:43609092 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.59_61dup (p.Pro20_Leu21insPro) | duplication | Hereditary cancer-predisposing syndrome [RCV002356788]|Multiple endocrine neoplasia, type 2 [RCV000541134]|not provided [RCV000479274] | Chr10:43077314..43077315 [GRCh38] Chr10:43572762..43572763 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1596C>T (p.Gly532=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000573968]|Hirschsprung disease, susceptibility to, 1 [RCV002475902]|Multiple endocrine neoplasia, type 2 [RCV000466732]|not provided [RCV002225623] | Chr10:43112172 [GRCh38] Chr10:43607620 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.270G>A (p.Glu90=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002429576]|Multiple endocrine neoplasia, type 2 [RCV000474188] | Chr10:43100655 [GRCh38] Chr10:43596103 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.632G>A (p.Gly211Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003352868]|Multiple endocrine neoplasia, type 2 [RCV000474197] | Chr10:43104958 [GRCh38] Chr10:43600406 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2694T>G (p.Asp898Glu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000474256] | Chr10:43120167 [GRCh38] Chr10:43615615 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1522+10T>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001406863] | Chr10:43111475 [GRCh38] Chr10:43606923 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.79T>C (p.Leu27=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000564360]|Hirschsprung disease, susceptibility to, 1 [RCV002489100]|Multiple endocrine neoplasia, type 2 [RCV000463201] | Chr10:43100464 [GRCh38] Chr10:43595912 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.921A>G (p.Ser307=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001019010]|Hirschsprung disease, susceptibility to, 1 [RCV002496799]|Multiple endocrine neoplasia, type 2 [RCV000466991] | Chr10:43106429 [GRCh38] Chr10:43601877 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1018G>T (p.Val340Phe) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002256246]|Multiple endocrine neoplasia, type 2 [RCV000470605]|Multiple endocrine neoplasia, type 2a [RCV000662822]|not provided [RCV003327399] | Chr10:43106526 [GRCh38] Chr10:43601974 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1907C>T (p.Thr636Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000570272]|Multiple endocrine neoplasia, type 2 [RCV000463920]|Multiple endocrine neoplasia, type 2a [RCV000709117]|RET-related condition [RCV003401454]|not provided [RCV001778963] | Chr10:43114507 [GRCh38] Chr10:43609955 [GRCh37] Chr10:10q11.21 |
pathogenic|uncertain significance |
NM_020975.6(RET):c.3177C>G (p.Asn1059Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002323690]|Multiple endocrine neoplasia, type 2 [RCV000467250] | Chr10:43126712 [GRCh38] Chr10:43622160 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.536A>G (p.Asn179Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000459733] | Chr10:43102540 [GRCh38] Chr10:43597988 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2393-8G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000463590] | Chr10:43119523 [GRCh38] Chr10:43614971 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1375G>A (p.Glu459Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001011224]|Hirschsprung disease, susceptibility to, 1 [RCV002481389]|Hirschsprung disease, susceptibility to, 1 [RCV003470405]|Multiple endocrine neoplasia, type 2 [RCV000474764] | Chr10:43111318 [GRCh38] Chr10:43606766 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.918A>G (p.Ala306=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002446860]|Multiple endocrine neoplasia, type 2 [RCV000474817]|not provided [RCV002227164] | Chr10:43106426 [GRCh38] Chr10:43601874 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.964G>A (p.Asp322Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000567653]|Multiple endocrine neoplasia, type 2 [RCV000474821] | Chr10:43106472 [GRCh38] Chr10:43601920 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1165C>T (p.Leu389Phe) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000566718]|Hirschsprung disease, susceptibility to, 1 [RCV001107050]|Multiple endocrine neoplasia [RCV001107714]|Multiple endocrine neoplasia, type 2 [RCV000472212]|Pheochromocytoma [RCV001107048]|Renal hypodysplasia/aplasia 1 [RCV001107049] | Chr10:43109132 [GRCh38] Chr10:43604580 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.776C>T (p.Pro259Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002411431]|Multiple endocrine neoplasia, type 2 [RCV000459798]|not provided [RCV000731879] | Chr10:43105102 [GRCh38] Chr10:43600550 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2331C>T (p.Asn777=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002451156]|Multiple endocrine neoplasia, type 2 [RCV000459804]|not provided [RCV001529312] | Chr10:43118419 [GRCh38] Chr10:43613867 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3188-4T>G | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002323771]|Multiple endocrine neoplasia, type 2 [RCV000459895]|not provided [RCV003114597] | Chr10:43128108 [GRCh38] Chr10:43623556 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1701C>T (p.Asp567=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000566653]|Multiple endocrine neoplasia, type 2 [RCV001086906]|not provided [RCV000679721]|not specified [RCV000605265] | Chr10:43112905 [GRCh38] Chr10:43608353 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2527G>A (p.Glu843Lys) | single nucleotide variant | Congenital central hypoventilation [RCV000763648]|Hereditary cancer-predisposing syndrome [RCV000562567]|Multiple endocrine neoplasia, type 2 [RCV000471342]|Multiple endocrine neoplasia, type 2a [RCV000709123]|RET-related condition [RCV003902637]|not provided [RCV000594322] | Chr10:43119665 [GRCh38] Chr10:43615113 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.73+10G>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001474565] | Chr10:43077341 [GRCh38] Chr10:43572789 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1464C>T (p.Thr488=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000563702]|Multiple endocrine neoplasia, type 2 [RCV000476164]|RET-related condition [RCV003899950]|not specified [RCV000607983] | Chr10:43111407 [GRCh38] Chr10:43606855 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2654G>A (p.Gly885Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002451079]|Multiple endocrine neoplasia, type 2 [RCV000476594]|not provided [RCV000520828] | Chr10:43120127 [GRCh38] Chr10:43615575 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3241G>A (p.Asp1081Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002323689]|Multiple endocrine neoplasia, type 2 [RCV000456480] | Chr10:43128165 [GRCh38] Chr10:43623613 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.235C>T (p.Arg79Trp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001015286]|Hirschsprung disease, susceptibility to, 1 [RCV001105647]|Multiple endocrine neoplasia [RCV001105646]|Multiple endocrine neoplasia, type 2 [RCV000463969]|Pheochromocytoma [RCV001104288]|Renal hypodysplasia/aplasia 1 [RCV001105645] | Chr10:43100620 [GRCh38] Chr10:43596068 [GRCh37] Chr10:10q11.21 |
benign|uncertain significance |
NM_020975.6(RET):c.1250G>A (p.Arg417His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000571049]|Multiple endocrine neoplasia, type 2 [RCV000456803] | Chr10:43109217 [GRCh38] Chr10:43604665 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.2932G>A (p.Glu978Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001017564]|Hirschsprung disease, susceptibility to, 1 [RCV002506101]|Hirschsprung disease, susceptibility to, 1 [RCV003463859]|Multiple endocrine neoplasia, type 2 [RCV000468043]|not provided [RCV003221984] | Chr10:43123801 [GRCh38] Chr10:43619249 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1354C>A (p.Leu452Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000561647]|Multiple endocrine neoplasia, type 2 [RCV001082963]|Multiple endocrine neoplasia, type 2a [RCV000662962]|not provided [RCV000730805] | Chr10:43111297 [GRCh38] Chr10:43606745 [GRCh37] Chr10:10q11.21 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.529C>T (p.Arg177Trp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000568353]|Multiple endocrine neoplasia, type 2 [RCV000475509] | Chr10:43102533 [GRCh38] Chr10:43597981 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2038G>A (p.Ala680Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002418359]|Hirschsprung disease, susceptibility to, 1 [RCV003463862]|Multiple endocrine neoplasia, type 2 [RCV000460597] | Chr10:43114638 [GRCh38] Chr10:43610086 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1353G>T (p.Thr451=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001011137]|Hirschsprung disease, susceptibility to, 1 [RCV001107135]|Multiple endocrine neoplasia [RCV001107136]|Multiple endocrine neoplasia, type 2 [RCV000468172]|Pheochromocytoma [RCV001107137]|Renal hypodysplasia/aplasia 1 [RCV001107134] | Chr10:43111296 [GRCh38] Chr10:43606744 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.2862G>A (p.Gly954=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002436480]|Multiple endocrine neoplasia, type 2 [RCV001426036] | Chr10:43123731 [GRCh38] Chr10:43619179 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1878G>A (p.Gln626=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001013505]|Multiple endocrine neoplasia, type 2 [RCV000468334]|Multiple endocrine neoplasia, type 2a [RCV000662530] | Chr10:43113674 [GRCh38] Chr10:43609122 [GRCh37] Chr10:10q11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.3165A>G (p.Thr1055=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002323772]|Multiple endocrine neoplasia, type 2 [RCV000468530] | Chr10:43126700 [GRCh38] Chr10:43622148 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.134C>T (p.Ala45Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000568194]|Hirschsprung disease, susceptibility to, 1 [RCV002481388]|Hirschsprung disease, susceptibility to, 1 [RCV003463861]|Multiple endocrine neoplasia, type 2a [RCV000662783]|not provided [RCV000489446]|not specified [RCV001821237] | Chr10:43100519 [GRCh38] Chr10:43595967 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2128A>G (p.Lys710Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002418358]|Hirschsprung disease, susceptibility to, 1 [RCV002480360]|Multiple endocrine neoplasia, type 2 [RCV000457350]|not provided [RCV003477946] | Chr10:43114728 [GRCh38] Chr10:43610176 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3090C>T (p.Asp1030=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002323770]|Multiple endocrine neoplasia, type 2 [RCV000464798]|not specified [RCV003321620] | Chr10:43126625 [GRCh38] Chr10:43622073 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.835G>A (p.Ala279Thr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000476149]|Multiple endocrine neoplasia, type 2a [RCV000662362] | Chr10:43105161 [GRCh38] Chr10:43600609 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3237_3238del (p.Arg1079fs) | microsatellite | not specified [RCV000455536] | Chr10:43128158..43128159 [GRCh38] Chr10:43623606..43623607 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.947G>T (p.Ser316Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002374734]|not specified [RCV000455580] | Chr10:43106455 [GRCh38] Chr10:43601903 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1264-7C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001487930] | Chr10:43111200 [GRCh38] Chr10:43606648 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2158C>T (p.Pro720Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001014621]|Multiple endocrine neoplasia, type 2 [RCV000461409] | Chr10:43116605 [GRCh38] Chr10:43612053 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.547G>A (p.Gly183Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000564807]|Multiple endocrine neoplasia, type 2 [RCV000465091] | Chr10:43102551 [GRCh38] Chr10:43597999 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2505C>T (p.Ser835=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001015782]|Multiple endocrine neoplasia, type 2 [RCV000465124] | Chr10:43119643 [GRCh38] Chr10:43615091 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2135T>C (p.Leu712Pro) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV003470404]|Multiple endocrine neoplasia, type 2 [RCV000465229] | Chr10:43114735 [GRCh38] Chr10:43610183 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.175G>A (p.Ala59Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001013005]|Multiple endocrine neoplasia, type 2 [RCV000557492]|not provided [RCV000486291] | Chr10:43100560 [GRCh38] Chr10:43596008 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.922G>A (p.Gly308Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000457916] | Chr10:43106430 [GRCh38] Chr10:43601878 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.249C>T (p.Asn83=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000461642] | Chr10:43100634 [GRCh38] Chr10:43596082 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1448A>G (p.Tyr483Cys) | single nucleotide variant | Congenital central hypoventilation [RCV000764896]|Hereditary cancer-predisposing syndrome [RCV001011633]|Multiple endocrine neoplasia, type 2 [RCV000469046]|Multiple endocrine neoplasia, type 2a [RCV000709110] | Chr10:43111391 [GRCh38] Chr10:43606839 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.906C>T (p.Asp302=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001018771]|Multiple endocrine neoplasia, type 2 [RCV000458012] | Chr10:43106414 [GRCh38] Chr10:43601862 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2689C>T (p.Arg897Ter) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000461915]|not provided [RCV002221538] | Chr10:43120162 [GRCh38] Chr10:43615610 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.626-4G>A | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000575748]|Multiple endocrine neoplasia, type 2 [RCV001085229]|RET-related condition [RCV003912825] | Chr10:43104948 [GRCh38] Chr10:43600396 [GRCh37] Chr10:10q11.21 |
benign|likely benign|uncertain significance |
NM_020975.6(RET):c.786G>A (p.Val262=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002258919]|Multiple endocrine neoplasia, type 2 [RCV001486592] | Chr10:43105112 [GRCh38] Chr10:43600560 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.178C>A (p.Pro60Thr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000458461] | Chr10:43100563 [GRCh38] Chr10:43596011 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.628G>A (p.Glu210Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001025089]|Hirschsprung disease, susceptibility to, 1 [RCV001107518]|Multiple endocrine neoplasia [RCV001107516]|Multiple endocrine neoplasia, type 2 [RCV000462331]|Pheochromocytoma [RCV001107519]|Renal hypodysplasia/aplasia 1 [RCV001107517]|not provided [RCV001310571]|not specified [RCV001797722] | Chr10:43104954 [GRCh38] Chr10:43600402 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NC_000010.11:g.(?_43100459)_(43102629_?)del | deletion | Multiple endocrine neoplasia, type 2 [RCV000466077] | Chr10:43100459..43102629 [GRCh38] Chr10:43595907..43598077 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3233C>T (p.Thr1078Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002446783]|Hirschsprung disease, susceptibility to, 1 [RCV003463863]|Multiple endocrine neoplasia, type 2 [RCV000466142]|Multiple endocrine neoplasia, type 2a [RCV002291627]|not provided [RCV001770303]|not specified [RCV001821238] | Chr10:43128157 [GRCh38] Chr10:43623605 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.157G>A (p.Val53Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001012280]|Multiple endocrine neoplasia, type 2 [RCV000466163] | Chr10:43100542 [GRCh38] Chr10:43595990 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1151C>G (p.Pro384Arg) | single nucleotide variant | Congenital central hypoventilation [RCV000764895]|Hereditary cancer-predisposing syndrome [RCV000571320]|Hirschsprung disease, susceptibility to, 1 [RCV003463860]|Multiple endocrine neoplasia, type 2 [RCV000469726]|not provided [RCV000679711] | Chr10:43109118 [GRCh38] Chr10:43604566 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.726G>A (p.Val242=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000470008] | Chr10:43105052 [GRCh38] Chr10:43600500 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.530G>A (p.Arg177Gln) | single nucleotide variant | Familial medullary thyroid carcinoma [RCV001294033]|Hereditary cancer-predisposing syndrome [RCV002348280]|Multiple endocrine neoplasia, type 2 [RCV000473800]|not provided [RCV003322771] | Chr10:43102534 [GRCh38] Chr10:43597982 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.457T>A (p.Ser153Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000568512]|Multiple endocrine neoplasia, type 2 [RCV001247153] | Chr10:43102461 [GRCh38] Chr10:43597909 [GRCh37] Chr10:10q11.21 |
uncertain significance |
GRCh37/hg19 10q11.21(chr10:42706947-44489498)x3 | copy number gain | See cases [RCV000510280] | Chr10:42706947..44489498 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1399G>C (p.Val467Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000575346]|Hirschsprung disease, susceptibility to, 1 [RCV002496914]|Hirschsprung disease, susceptibility to, 1 [RCV003470621]|Multiple endocrine neoplasia, type 2 [RCV000688581]|Multiple endocrine neoplasia, type 2a [RCV002291649]|not provided [RCV000497413] | Chr10:43111342 [GRCh38] Chr10:43606790 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1009G>A (p.Glu337Lys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000654585]|not provided [RCV000498580] | Chr10:43106517 [GRCh38] Chr10:43601965 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1196C>T (p.Pro399Leu) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000508605]|Multiple endocrine neoplasia, type 2 [RCV001855048]|not specified [RCV002469092] | Chr10:43109163 [GRCh38] Chr10:43604611 [GRCh37] Chr10:10q11.21 |
pathogenic|uncertain significance |
NM_020975.6(RET):c.3288T>G (p.Tyr1096Ter) | single nucleotide variant | not provided [RCV000494324] | Chr10:43128212 [GRCh38] Chr10:43623660 [GRCh37] Chr10:10q11.21 |
likely pathogenic |
NM_020975.6(RET):c.1055A>G (p.His352Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001856964]|not provided [RCV000494565] | Chr10:43106563 [GRCh38] Chr10:43602011 [GRCh37] Chr10:10q11.21 |
uncertain significance |
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) | copy number gain | See cases [RCV000511389] | Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic|uncertain significance |
GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3 | copy number gain | See cases [RCV000510893] | Chr10:100026..50961640 [GRCh37] Chr10:10p15.3-q11.23 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 | copy number gain | See cases [RCV000510861] | Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
NM_020975.6(RET):c.2995G>A (p.Ala999Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000572477]|Multiple endocrine neoplasia, type 2 [RCV001305918] | Chr10:43124938 [GRCh38] Chr10:43620386 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1882C>G (p.Pro628Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002413648]|Multiple endocrine neoplasia, type 2 [RCV000541929] | Chr10:43114482 [GRCh38] Chr10:43609930 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3336T>C (p.Phe1112=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001020023]|Multiple endocrine neoplasia, type 2 [RCV001086319]|not provided [RCV000827331] | Chr10:43128260 [GRCh38] Chr10:43623708 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3245G>A (p.Gly1082Asp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000560849] | Chr10:43128169 [GRCh38] Chr10:43623617 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1089C>T (p.Ser363=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003296591] | Chr10:43109056 [GRCh38] Chr10:43604504 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2572A>G (p.Ile858Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003296595] | Chr10:43119710 [GRCh38] Chr10:43615158 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1268G>A (p.Gly423Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003297653] | Chr10:43111211 [GRCh38] Chr10:43606659 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2451C>G (p.Arg817=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003297656] | Chr10:43119589 [GRCh38] Chr10:43615037 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1041G>T (p.Val347=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000572765]|Multiple endocrine neoplasia, type 2 [RCV001447045] | Chr10:43106549 [GRCh38] Chr10:43601997 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3060G>A (p.Ala1020=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001018395]|Multiple endocrine neoplasia, type 2 [RCV000538575]|RET-related condition [RCV003952895] | Chr10:43126595 [GRCh38] Chr10:43622043 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1549C>G (p.Leu517Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000575351]|Multiple endocrine neoplasia, type 2 [RCV000704501]|Multiple endocrine neoplasia, type 2a [RCV002291673] | Chr10:43112125 [GRCh38] Chr10:43607573 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.452A>G (p.Asn151Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000575489]|Hirschsprung disease, susceptibility to, 1 [RCV002483540]|Hirschsprung disease, susceptibility to, 1 [RCV003459399]|Multiple endocrine neoplasia, type 2 [RCV000812605]|Multiple endocrine neoplasia, type 2a [RCV000709102]|not provided [RCV001764690] | Chr10:43102456 [GRCh38] Chr10:43597904 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1766G>A (p.Ser589Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003297664] | Chr10:43113562 [GRCh38] Chr10:43609010 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2560T>G (p.Phe854Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003297676] | Chr10:43119698 [GRCh38] Chr10:43615146 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1772T>A (p.Val591Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003297687] | Chr10:43113568 [GRCh38] Chr10:43609016 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1934C>T (p.Ser645Phe) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003297688] | Chr10:43114534 [GRCh38] Chr10:43609982 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.31C>A (p.Leu11Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000575741]|Multiple endocrine neoplasia, type 2 [RCV000689589]|RET-related condition [RCV003925750]|not specified [RCV001821691] | Chr10:43077289 [GRCh38] Chr10:43572737 [GRCh37] Chr10:10q11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.478C>T (p.Leu160Phe) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000575783]|Multiple endocrine neoplasia, type 2 [RCV001243228]|not provided [RCV003233748]|not specified [RCV002268204] | Chr10:43102482 [GRCh38] Chr10:43597930 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2479C>T (p.Leu827=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000575854]|Multiple endocrine neoplasia, type 2 [RCV001426225] | Chr10:43119617 [GRCh38] Chr10:43615065 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.864G>A (p.Lys288=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002377188]|Multiple endocrine neoplasia, type 2 [RCV000535132] | Chr10:43105190 [GRCh38] Chr10:43600638 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1569G>A (p.Lys523=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000570660]|Multiple endocrine neoplasia, type 2 [RCV000654639] | Chr10:43112145 [GRCh38] Chr10:43607593 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2290G>A (p.Ala764Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000576114]|Hirschsprung disease, susceptibility to, 1 [RCV002476250]|Multiple endocrine neoplasia, type 2 [RCV000654575] | Chr10:43118378 [GRCh38] Chr10:43613826 [GRCh37] Chr10:10q11.21 |
benign|uncertain significance |
NM_020975.6(RET):c.1427C>G (p.Pro476Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000573686]|Multiple endocrine neoplasia, type 2 [RCV001858146] | Chr10:43111370 [GRCh38] Chr10:43606818 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3200C>T (p.Pro1067Leu) | single nucleotide variant | Familial medullary thyroid carcinoma [RCV001294031]|Hereditary cancer-predisposing syndrome [RCV002448801]|Multiple endocrine neoplasia, type 2 [RCV000535690]|not provided [RCV001811073] | Chr10:43128124 [GRCh38] Chr10:43623572 [GRCh37] Chr10:10q11.21 |
benign|likely benign|uncertain significance |
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 | copy number loss | Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] | Chr10:42347406..135534747 [GRCh37] Chr10:10q11.21-26.3 |
drug response |
NM_020975.6(RET):c.2041C>G (p.Gln681Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001014192]|Hirschsprung disease, susceptibility to, 1 [RCV003470793]|Multiple endocrine neoplasia, type 2 [RCV000558712]|not specified [RCV003330795] | Chr10:43114641 [GRCh38] Chr10:43610089 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.553T>C (p.Phe185Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000571696]|Multiple endocrine neoplasia, type 2 [RCV001858383] | Chr10:43102557 [GRCh38] Chr10:43598005 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1731C>G (p.Asp577Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002404575]|Multiple endocrine neoplasia, type 2 [RCV000536850]|not provided [RCV003480695] | Chr10:43112935 [GRCh38] Chr10:43608383 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2945G>A (p.Arg982His) | single nucleotide variant | Congenital central hypoventilation [RCV000763650]|Hereditary cancer-predisposing syndrome [RCV001017621]|Multiple endocrine neoplasia, type 2 [RCV000536923]|not provided [RCV003156261] | Chr10:43124888 [GRCh38] Chr10:43620336 [GRCh37] Chr10:10q11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.295C>T (p.Arg99Trp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000571982]|Multiple endocrine neoplasia, type 2 [RCV001212218] | Chr10:43100680 [GRCh38] Chr10:43596128 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.884C>G (p.Thr295Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000572152]|not specified [RCV000678746] | Chr10:43106392 [GRCh38] Chr10:43601840 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.740C>T (p.Ala247Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000574821]|Multiple endocrine neoplasia, type 2 [RCV001366883] | Chr10:43105066 [GRCh38] Chr10:43600514 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.2601G>A (p.Glu867=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000574891]|Multiple endocrine neoplasia, type 2 [RCV003645861] | Chr10:43119739 [GRCh38] Chr10:43615187 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.81G>A (p.Leu27=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001027268]|Hirschsprung disease, susceptibility to, 1 [RCV002491107]|Multiple endocrine neoplasia, type 2 [RCV000556693]|not provided [RCV001547541] | Chr10:43100466 [GRCh38] Chr10:43595914 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.576T>C (p.Pro192=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003283598] | Chr10:43102580 [GRCh38] Chr10:43598028 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.402G>A (p.Glu134=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003283600] | Chr10:43102406 [GRCh38] Chr10:43597854 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3189C>G (p.Gly1063=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003283610] | Chr10:43128113 [GRCh38] Chr10:43623561 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.455C>G (p.Thr152Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003283611] | Chr10:43102459 [GRCh38] Chr10:43597907 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1429A>G (p.Lys477Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003283614] | Chr10:43111372 [GRCh38] Chr10:43606820 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2405T>A (p.Leu802His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003283618] | Chr10:43119543 [GRCh38] Chr10:43614991 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1402A>G (p.Asn468Asp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000555486] | Chr10:43111345 [GRCh38] Chr10:43606793 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2683T>A (p.Leu895Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002431719]|Multiple endocrine neoplasia, type 2 [RCV000559191] | Chr10:43120156 [GRCh38] Chr10:43615604 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2815G>A (p.Val939Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000571698]|Multiple endocrine neoplasia, type 2 [RCV001858385]|RET-related condition [RCV003983130] | Chr10:43123684 [GRCh38] Chr10:43619132 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.423C>T (p.Gly141=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000574267]|Multiple endocrine neoplasia, type 2 [RCV002060528] | Chr10:43102427 [GRCh38] Chr10:43597875 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2393-5C>T | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003352939]|Hirschsprung disease, susceptibility to, 1 [RCV002476358]|Multiple endocrine neoplasia, type 2 [RCV001433390]|not specified [RCV000615821] | Chr10:43119526 [GRCh38] Chr10:43614974 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.487C>A (p.Arg163=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001023187]|Hirschsprung disease, susceptibility to, 1 [RCV001103796]|Multiple endocrine neoplasia [RCV001103795]|Multiple endocrine neoplasia, type 2 [RCV001084075]|Pheochromocytoma [RCV001103797]|Renal hypodysplasia/aplasia 1 [RCV001105727]|not provided [RCV000679752] | Chr10:43102491 [GRCh38] Chr10:43597939 [GRCh37] Chr10:10q11.21 |
benign|likely benign|uncertain significance |
NM_020975.6(RET):c.1163T>C (p.Val388Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001010068]|Multiple endocrine neoplasia, type 2 [RCV000560343] | Chr10:43109130 [GRCh38] Chr10:43604578 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NC_000010.10:g.43611191_61663279inv | inversion | Pediatric metastatic thyroid tumour [RCV000585841] | Chr10:43611191..61663279 [GRCh37] Chr10:10q11.21-21.2 |
likely pathogenic |
NM_020975.6(RET):c.603C>T (p.Ser201=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002358621]|Hirschsprung disease, susceptibility to, 1 [RCV001106848]|Multiple endocrine neoplasia [RCV001107515]|Multiple endocrine neoplasia, type 2 [RCV000555991]|Pheochromocytoma [RCV001106849]|Renal hypodysplasia/aplasia 1 [RCV001106847] | Chr10:43102607 [GRCh38] Chr10:43598055 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.3022A>T (p.Met1008Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000569684]|Hirschsprung disease, susceptibility to, 1 [RCV002483541]|Multiple endocrine neoplasia, type 2 [RCV000817531] | Chr10:43124965 [GRCh38] Chr10:43620413 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.558C>T (p.His186=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003297658] | Chr10:43102562 [GRCh38] Chr10:43598010 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.289C>G (p.Leu97Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003297659] | Chr10:43100674 [GRCh38] Chr10:43596122 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1219A>G (p.Thr407Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003297663] | Chr10:43109186 [GRCh38] Chr10:43604634 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.482A>C (p.Lys161Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003297671] | Chr10:43102486 [GRCh38] Chr10:43597934 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.511A>C (p.Arg171=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003297672] | Chr10:43102515 [GRCh38] Chr10:43597963 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.707A>C (p.Lys236Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003297673] | Chr10:43105033 [GRCh38] Chr10:43600481 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2176C>A (p.Leu726Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003297675] | Chr10:43116623 [GRCh38] Chr10:43612071 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1176C>G (p.His392Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003297686] | Chr10:43109143 [GRCh38] Chr10:43604591 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1927C>G (p.Leu643Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003297690] | Chr10:43114527 [GRCh38] Chr10:43609975 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1198G>T (p.Val400Phe) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003297691] | Chr10:43109165 [GRCh38] Chr10:43604613 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2018A>C (p.Glu673Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000569915]|Hirschsprung disease, susceptibility to, 1 [RCV002491140]|Hirschsprung disease, susceptibility to, 1 [RCV003465275]|Multiple endocrine neoplasia, type 2 [RCV001068963]|not provided [RCV002476251]|not specified [RCV001731794] | Chr10:43114618 [GRCh38] Chr10:43610066 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1221C>T (p.Thr407=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002360481]|Multiple endocrine neoplasia, type 2 [RCV000654610]|not specified [RCV000616700] | Chr10:43109188 [GRCh38] Chr10:43604636 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1189G>A (p.Val397Met) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000534092]|Ovarian cancer [RCV003153730] | Chr10:43109156 [GRCh38] Chr10:43604604 [GRCh37] Chr10:10q11.21 |
likely pathogenic|uncertain significance |
NM_020975.6(RET):c.2723G>A (p.Arg908Lys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000534223] | Chr10:43120196 [GRCh38] Chr10:43615644 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1224C>T (p.Tyr408=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001010416]|Multiple endocrine neoplasia, type 2 [RCV000534440] | Chr10:43109191 [GRCh38] Chr10:43604639 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1216A>C (p.Ser406Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003296590]|Multiple endocrine neoplasia, type 2 [RCV003533835] | Chr10:43109183 [GRCh38] Chr10:43604631 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2972A>G (p.Glu991Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003296594] | Chr10:43124915 [GRCh38] Chr10:43620363 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.731C>T (p.Thr244Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001026272]|Hirschsprung disease, susceptibility to, 1 [RCV002506371]|Multiple endocrine neoplasia, type 2 [RCV000557609] | Chr10:43105057 [GRCh38] Chr10:43600505 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2098_2115dup (p.Ser705_Val706insMetGluAsnGlnValSer) | duplication | Hereditary cancer-predisposing syndrome [RCV001014424]|Multiple endocrine neoplasia, type 2 [RCV000557794] | Chr10:43114693..43114694 [GRCh38] Chr10:43610141..43610142 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NC_000010.10:g.(?_43572701)_(43623723_?)dup | duplication | Multiple endocrine neoplasia, type 2 [RCV000539226] | Chr10:43077253..43128275 [GRCh38] Chr10:43572701..43623723 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1612A>G (p.Thr538Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003296600] | Chr10:43112188 [GRCh38] Chr10:43607636 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3091G>A (p.Asp1031Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001018560]|Multiple endocrine neoplasia, type 2 [RCV000654550]|Multiple endocrine neoplasia, type 2a [RCV000988350] | Chr10:43126626 [GRCh38] Chr10:43622074 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.577G>T (p.Val193Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001024524]|Hirschsprung disease, susceptibility to, 1 [RCV002485477]|Multiple endocrine neoplasia, type 2 [RCV000654552] | Chr10:43102581 [GRCh38] Chr10:43598029 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3281G>A (p.Ser1094Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002442367]|Multiple endocrine neoplasia, type 2 [RCV000654553] | Chr10:43128205 [GRCh38] Chr10:43623653 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1138G>A (p.Asp380Asn) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV002485478]|Multiple endocrine neoplasia, type 2 [RCV000654554] | Chr10:43109105 [GRCh38] Chr10:43604553 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1759+10G>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000654556] | Chr10:43112973 [GRCh38] Chr10:43608421 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2161C>T (p.Arg721Trp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000654557] | Chr10:43116608 [GRCh38] Chr10:43612056 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1681A>T (p.Ser561Cys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003372795]|Multiple endocrine neoplasia, type 2 [RCV000654558] | Chr10:43112885 [GRCh38] Chr10:43608333 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2234A>C (p.His745Pro) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000654559] | Chr10:43116681 [GRCh38] Chr10:43612129 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3166T>C (p.Trp1056Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001018892]|Multiple endocrine neoplasia, type 2 [RCV000654560] | Chr10:43126701 [GRCh38] Chr10:43622149 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.58C>T (p.Pro20Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001024664]|Multiple endocrine neoplasia, type 2 [RCV000654562] | Chr10:43077316 [GRCh38] Chr10:43572764 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1963T>C (p.Phe655Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001013883]|Multiple endocrine neoplasia, type 2 [RCV000654563] | Chr10:43114563 [GRCh38] Chr10:43610011 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.2870C>T (p.Pro957Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002440386]|Hirschsprung disease, susceptibility to, 1 [RCV003459552]|Multiple endocrine neoplasia, type 2 [RCV000654564] | Chr10:43123739 [GRCh38] Chr10:43619187 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.853T>C (p.Phe285Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000654565] | Chr10:43105179 [GRCh38] Chr10:43600627 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2996C>T (p.Ala999Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002440387]|Hirschsprung disease, susceptibility to, 1 [RCV002507128]|Multiple endocrine neoplasia, type 2 [RCV000654569] | Chr10:43124939 [GRCh38] Chr10:43620387 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.350C>A (p.Pro117His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001020483]|Hirschsprung disease, susceptibility to, 1 [RCV002493057]|Multiple endocrine neoplasia, type 2 [RCV000654570] | Chr10:43102354 [GRCh38] Chr10:43597802 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2486G>C (p.Ser829Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002424549]|Multiple endocrine neoplasia, type 2 [RCV000654571]|not provided [RCV002477455] | Chr10:43119624 [GRCh38] Chr10:43615072 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2735G>T (p.Arg912Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002440388]|Multiple endocrine neoplasia, type 2 [RCV000654572]|not provided [RCV003238798] | Chr10:43121950 [GRCh38] Chr10:43617398 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2897C>T (p.Thr966Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002440389]|Multiple endocrine neoplasia, type 2 [RCV000654573] | Chr10:43123766 [GRCh38] Chr10:43619214 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2428G>A (p.Gly810Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001015496]|Multiple endocrine neoplasia, type 2 [RCV000654574] | Chr10:43119566 [GRCh38] Chr10:43615014 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.744C>T (p.Gly248=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000654576] | Chr10:43105070 [GRCh38] Chr10:43600518 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3052C>T (p.Leu1018Phe) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001018329]|Hirschsprung disease, susceptibility to, 1 [RCV001106022]|Multiple endocrine neoplasia [RCV001106023]|Multiple endocrine neoplasia, type 2 [RCV000654577]|Multiple endocrine neoplasia, type 2a [RCV000709125]|Pheochromocytoma [RCV001106020]|Renal hypodysplasia/aplasia 1 [RCV001106021]|not provided [RCV003318621]|not specified [RCV003493698] | Chr10:43126587 [GRCh38] Chr10:43622035 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.3287A>G (p.Tyr1096Cys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002442368]|Multiple endocrine neoplasia, type 2 [RCV000654578] | Chr10:43128211 [GRCh38] Chr10:43623659 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1299C>G (p.Phe433Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001010584]|Multiple endocrine neoplasia, type 2 [RCV000654579]|RET-related condition [RCV003965416] | Chr10:43111242 [GRCh38] Chr10:43606690 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2420C>T (p.Ala807Val) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV003459553]|Multiple endocrine neoplasia, type 2 [RCV000654580] | Chr10:43119558 [GRCh38] Chr10:43615006 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2657G>A (p.Arg886Gln) | single nucleotide variant | Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype [RCV003313129]|Hereditary cancer-predisposing syndrome [RCV000708758]|Hirschsprung disease, susceptibility to, 1 [RCV002477456]|Hirschsprung disease, susceptibility to, 1 [RCV003459554]|Multiple endocrine neoplasia, type 2 [RCV000654581]|not provided [RCV002284418] | Chr10:43120130 [GRCh38] Chr10:43615578 [GRCh37] Chr10:10q11.21 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.2758A>G (p.Ile920Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002440390]|Multiple endocrine neoplasia, type 2 [RCV000654583] | Chr10:43121973 [GRCh38] Chr10:43617421 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1079G>A (p.Arg360Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002422430]|Hirschsprung disease, susceptibility to, 1 [RCV003465422]|Multiple endocrine neoplasia, type 2 [RCV000654586] | Chr10:43109046 [GRCh38] Chr10:43604494 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.796G>A (p.Asp266Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002422431]|Hirschsprung disease, susceptibility to, 1 [RCV003465423]|Multiple endocrine neoplasia, type 2 [RCV000654587] | Chr10:43105122 [GRCh38] Chr10:43600570 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.44TGC[4] (p.Leu19del) | microsatellite | Hereditary cancer-predisposing syndrome [RCV002343391]|Multiple endocrine neoplasia, type 2 [RCV000654588]|Multiple endocrine neoplasia, type 2a [RCV000988339] | Chr10:43077302..43077304 [GRCh38] Chr10:43572762..43572764 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1538C>G (p.Ala513Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001012090]|Multiple endocrine neoplasia, type 2 [RCV000654589]|not provided [RCV003442008] | Chr10:43112114 [GRCh38] Chr10:43607562 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1222T>A (p.Tyr408Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001010408]|Multiple endocrine neoplasia, type 2 [RCV000654590] | Chr10:43109189 [GRCh38] Chr10:43604637 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1154G>T (p.Gly385Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002360666]|Hirschsprung disease, susceptibility to, 1 [RCV002507129]|Multiple endocrine neoplasia, type 2 [RCV000654591] | Chr10:43109121 [GRCh38] Chr10:43604569 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.752AGG[1] (p.Glu252del) | microsatellite | Multiple endocrine neoplasia, type 2 [RCV000654594] | Chr10:43105077..43105079 [GRCh38] Chr10:43600525..43600527 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3131A>G (p.Asn1044Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002325323]|Multiple endocrine neoplasia, type 2 [RCV000654595] | Chr10:43126666 [GRCh38] Chr10:43622114 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.658A>T (p.Ser220Cys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002369766]|Multiple endocrine neoplasia, type 2 [RCV000654596] | Chr10:43104984 [GRCh38] Chr10:43600432 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1934_1936del (p.Ser645del) | deletion | Congenital anomaly of kidney and urinary tract [RCV001328256]|Hereditary cancer-predisposing syndrome [RCV001013641]|Multiple endocrine neoplasia, type 2 [RCV000654597]|Multiple endocrine neoplasia, type 2b [RCV001262458]|not specified [RCV001816650] | Chr10:43114532..43114534 [GRCh38] Chr10:43609980..43609982 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2546G>A (p.Gly849Asp) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV002485479]|Multiple endocrine neoplasia, type 2 [RCV000654598] | Chr10:43119684 [GRCh38] Chr10:43615132 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3068C>T (p.Pro1023Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001018435]|Multiple endocrine neoplasia, type 2 [RCV000654599]|not provided [RCV003480744] | Chr10:43126603 [GRCh38] Chr10:43622051 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1364T>C (p.Val455Ala) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000654600] | Chr10:43111307 [GRCh38] Chr10:43606755 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3199C>T (p.Pro1067Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001019124]|Hirschsprung disease, susceptibility to, 1 [RCV002507130]|Multiple endocrine neoplasia, type 2 [RCV000654601]|Multiple endocrine neoplasia, type 2a [RCV000663067]|not provided [RCV002284419] | Chr10:43128123 [GRCh38] Chr10:43623571 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1523-4G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000654603] | Chr10:43112095 [GRCh38] Chr10:43607543 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.984C>T (p.Thr328=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003163019]|Multiple endocrine neoplasia, type 2 [RCV000654604] | Chr10:43106492 [GRCh38] Chr10:43601940 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2939+10del | deletion | Multiple endocrine neoplasia, type 2 [RCV000654605] | Chr10:43123815 [GRCh38] Chr10:43619263 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.147C>G (p.Pro49=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000654606] | Chr10:43100532 [GRCh38] Chr10:43595980 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1698C>T (p.Pro566=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002397326]|Multiple endocrine neoplasia, type 2 [RCV000654607] | Chr10:43112902 [GRCh38] Chr10:43608350 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1548C>A (p.Pro516=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002397327]|Multiple endocrine neoplasia, type 2 [RCV000654608] | Chr10:43112124 [GRCh38] Chr10:43607572 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3006C>T (p.Ser1002=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002440391]|Hirschsprung disease, susceptibility to, 1 [RCV002507131]|Multiple endocrine neoplasia, type 2 [RCV000654611]|not provided [RCV003478387] | Chr10:43124949 [GRCh38] Chr10:43620397 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1686C>T (p.Thr562=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002397328]|Multiple endocrine neoplasia, type 2 [RCV000654612]|not provided [RCV003237979] | Chr10:43112890 [GRCh38] Chr10:43608338 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.237G>T (p.Arg79=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001015327]|Multiple endocrine neoplasia, type 2 [RCV001088057]|not provided [RCV000729527] | Chr10:43100622 [GRCh38] Chr10:43596070 [GRCh37] Chr10:10q11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.1677T>C (p.Ser559=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002406486]|Multiple endocrine neoplasia, type 2 [RCV000654614] | Chr10:43112881 [GRCh38] Chr10:43608329 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1833C>T (p.Cys611=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000654616] | Chr10:43113629 [GRCh38] Chr10:43609077 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.705G>A (p.Glu235=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000654618] | Chr10:43105031 [GRCh38] Chr10:43600479 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2124C>T (p.Ala708=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001014532]|Hirschsprung disease, susceptibility to, 1 [RCV002493058]|Multiple endocrine neoplasia, type 2 [RCV000654619] | Chr10:43114724 [GRCh38] Chr10:43610172 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.96G>A (p.Ser32=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001019653]|Hirschsprung disease, susceptibility to, 1 [RCV002507132]|Multiple endocrine neoplasia, type 2 [RCV000654620] | Chr10:43100481 [GRCh38] Chr10:43595929 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2502C>T (p.Asn834=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000654621] | Chr10:43119640 [GRCh38] Chr10:43615088 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3177C>T (p.Asn1059=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000654623] | Chr10:43126712 [GRCh38] Chr10:43622160 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1047G>A (p.Ala349=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002257919]|Multiple endocrine neoplasia, type 2 [RCV000654624] | Chr10:43106555 [GRCh38] Chr10:43602003 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.177C>A (p.Ala59=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002406487]|Multiple endocrine neoplasia, type 2 [RCV000654625] | Chr10:43100562 [GRCh38] Chr10:43596010 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.795G>A (p.Glu265=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003303079]|Multiple endocrine neoplasia, type 2 [RCV000654626] | Chr10:43105121 [GRCh38] Chr10:43600569 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.528T>A (p.Ile176=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000654627] | Chr10:43102532 [GRCh38] Chr10:43597980 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1617C>G (p.Gly539=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000654628] | Chr10:43112193 [GRCh38] Chr10:43607641 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.942C>T (p.Tyr314=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000654629] | Chr10:43106450 [GRCh38] Chr10:43601898 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.73+9T>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000654630] | Chr10:43077340 [GRCh38] Chr10:43572788 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1665C>T (p.Phe555=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001012620]|Multiple endocrine neoplasia, type 2 [RCV000654631] | Chr10:43112869 [GRCh38] Chr10:43608317 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2085C>T (p.Pro695=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001014376]|Multiple endocrine neoplasia, type 2 [RCV000654632] | Chr10:43114685 [GRCh38] Chr10:43610133 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1263+7C>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000654633] | Chr10:43109237 [GRCh38] Chr10:43604685 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1371A>T (p.Ser457=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001011190]|Hirschsprung disease, susceptibility to, 1 [RCV002493059]|Multiple endocrine neoplasia, type 2 [RCV000654635] | Chr10:43111314 [GRCh38] Chr10:43606762 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3303T>C (p.Leu1101=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002458161]|Multiple endocrine neoplasia, type 2 [RCV000654636] | Chr10:43128227 [GRCh38] Chr10:43623675 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2373T>C (p.Tyr791=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002458162]|Multiple endocrine neoplasia, type 2 [RCV000654637] | Chr10:43118461 [GRCh38] Chr10:43613909 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1064-3C>T | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002406488]|Multiple endocrine neoplasia, type 2 [RCV000654638] | Chr10:43109028 [GRCh38] Chr10:43604476 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3039+7G>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000654640] | Chr10:43124989 [GRCh38] Chr10:43620437 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1926C>G (p.Val642=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001013716]|Multiple endocrine neoplasia, type 2 [RCV001084579]|RET-related condition [RCV003928143]|not provided [RCV000654641] | Chr10:43114526 [GRCh38] Chr10:43609974 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.943A>C (p.Thr315Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002377189]|Hirschsprung disease, susceptibility to, 1 [RCV003459266]|Multiple endocrine neoplasia, type 2 [RCV000535337]|not provided [RCV000679756] | Chr10:43106451 [GRCh38] Chr10:43601899 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.550A>G (p.Thr184Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000573485]|Multiple endocrine neoplasia, type 2 [RCV001853798] | Chr10:43102554 [GRCh38] Chr10:43598002 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1374C>T (p.Ala458=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001011249]|Multiple endocrine neoplasia, type 2 [RCV000870402]|not provided [RCV003420069]|not specified [RCV000614272] | Chr10:43111317 [GRCh38] Chr10:43606765 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.176C>T (p.Ala59Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000535796] | Chr10:43100561 [GRCh38] Chr10:43596009 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.219C>T (p.Tyr73=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001014762]|Multiple endocrine neoplasia, type 2 [RCV000536235] | Chr10:43100604 [GRCh38] Chr10:43596052 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1353G>A (p.Thr451=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002385930]|Multiple endocrine neoplasia, type 2 [RCV000946087]|not specified [RCV000604367] | Chr10:43111296 [GRCh38] Chr10:43606744 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1523-12T>G | single nucleotide variant | not specified [RCV000605552] | Chr10:43112087 [GRCh38] Chr10:43607535 [GRCh37] Chr10:10q11.21 |
likely benign |
Single allele | duplication | not specified [RCV000597959] | Chr10:43572756..43572764 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2071G>T (p.Gly691Cys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003372819]|Multiple endocrine neoplasia, type 2 [RCV000699283] | Chr10:43114671 [GRCh38] Chr10:43610119 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.884C>T (p.Thr295Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001018407]|Multiple endocrine neoplasia, type 2 [RCV001040270]|RET-related condition [RCV003403530]|not provided [RCV001779040] | Chr10:43106392 [GRCh38] Chr10:43601840 [GRCh37] Chr10:10q11.21 |
pathogenic|uncertain significance |
NM_020975.6(RET):c.1513_1518del (p.Glu505_Gly506del) | deletion | Multiple endocrine neoplasia, type 2a [RCV000664338] | Chr10:43111455..43111460 [GRCh38] Chr10:43606903..43606908 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.1545C>G (p.Cys515Trp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000664341] | Chr10:43112121 [GRCh38] Chr10:43607569 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.1860C>T (p.Cys620=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002256461]|Multiple endocrine neoplasia, type 2 [RCV000695872] | Chr10:43113656 [GRCh38] Chr10:43609104 [GRCh37] Chr10:10q11.21 |
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.1930T>G (p.Phe644Val) | single nucleotide variant | not specified [RCV000664366] | Chr10:43114530 [GRCh38] Chr10:43609978 [GRCh37] Chr10:10q11.21 |
pathogenic|uncertain significance |
NM_020975.6(RET):c.2121T>A (p.Asp707Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002417633] | Chr10:43114721 [GRCh38] Chr10:43610169 [GRCh37] Chr10:10q11.21 |
pathogenic|uncertain significance |
NM_020975.6(RET):c.2348A>G (p.Asn783Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001015249]|Multiple endocrine neoplasia, type 2 [RCV000821548]|not provided [RCV002286772] | Chr10:43118436 [GRCh38] Chr10:43613884 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.337+11C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002060797]|Multiple endocrine neoplasia, type 2a [RCV000662936]|not provided [RCV000679748]|not specified [RCV003403527] | Chr10:43100733 [GRCh38] Chr10:43596181 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3176A>G (p.Asn1059Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002325336]|Hirschsprung disease, susceptibility to, 1 [RCV002485509]|Hirschsprung disease, susceptibility to, 1 [RCV003459563]|Multiple endocrine neoplasia, type 2 [RCV000691242]|Multiple endocrine neoplasia, type 2a [RCV000663319] | Chr10:43126711 [GRCh38] Chr10:43622159 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1890CGA[1] (p.Asp631del) | microsatellite | Multiple endocrine neoplasia, type 2 [RCV000808356] | Chr10:43114490..43114492 [GRCh38] Chr10:43609938..43609940 [GRCh37] Chr10:10q11.21 |
pathogenic|uncertain significance |
NM_020975.6(RET):c.2248G>C (p.Ala750Pro) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001985345] | Chr10:43116695 [GRCh38] Chr10:43612143 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1544G>T (p.Cys515Phe) | single nucleotide variant | not specified [RCV000664340] | Chr10:43112120 [GRCh38] Chr10:43607568 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1621T>C (p.Cys541Arg) | single nucleotide variant | not specified [RCV000664343] | Chr10:43112197 [GRCh38] Chr10:43607645 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1827C>T (p.Cys609=) | single nucleotide variant | not provided [RCV003481967] | Chr10:43113623 [GRCh38] Chr10:43609071 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1846G>C (p.Glu616Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002412940]|Multiple endocrine neoplasia, type 2 [RCV003097295] | Chr10:43113642 [GRCh38] Chr10:43609090 [GRCh37] Chr10:10q11.21 |
pathogenic|uncertain significance |
NM_020975.6(RET):c.2311G>A (p.Asp771Asn) | single nucleotide variant | not specified [RCV000664382] | Chr10:43118399 [GRCh38] Chr10:43613847 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2411T>C (p.Val804Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003167668]|Multiple endocrine neoplasia, type 2 [RCV002726228] | Chr10:43119549 [GRCh38] Chr10:43614997 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1016C>T (p.Ser339Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002343411]|Hirschsprung disease, susceptibility to, 1 [RCV002485508]|Multiple endocrine neoplasia, type 2 [RCV000818592]|Multiple endocrine neoplasia, type 2a [RCV000663096] | Chr10:43106524 [GRCh38] Chr10:43601972 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1859_1860delinsTG (p.Cys620Leu) | indel | not specified [RCV000664351] | Chr10:43113655..43113656 [GRCh38] Chr10:43609103..43609104 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1997A>C (p.Lys666Thr) | single nucleotide variant | Multiple endocrine neoplasia, type 2a [RCV000664373] | Chr10:43114597 [GRCh38] Chr10:43610045 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.3025A>G (p.Met1009Val) | single nucleotide variant | not specified [RCV000664397] | Chr10:43124968 [GRCh38] Chr10:43620416 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2392+19T>C | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002256459]|Multiple endocrine neoplasia, type 2 [RCV001455001]|Multiple endocrine neoplasia, type 2a [RCV000662501]|not provided [RCV000835063] | Chr10:43118499 [GRCh38] Chr10:43613947 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1857_1858delinsTC (p.Cys620Arg) | indel | Multiple endocrine neoplasia, type 2a [RCV000664349] | Chr10:43113653..43113654 [GRCh38] Chr10:43609101..43609102 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.1895A>G (p.Glu632Gly) | single nucleotide variant | not provided [RCV002287019] | Chr10:43114495 [GRCh38] Chr10:43609943 [GRCh37] Chr10:10q11.21 |
pathogenic|uncertain significance |
NM_020975.6(RET):c.1997A>G (p.Lys666Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001915699] | Chr10:43114597 [GRCh38] Chr10:43610045 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2364C>T (p.Ile788=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002450132] | Chr10:43118452 [GRCh38] Chr10:43613900 [GRCh37] Chr10:10q11.21 |
pathogenic|likely benign|uncertain significance |
NM_020975.6(RET):c.3049G>A (p.Asp1017Asn) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001320362] | Chr10:43126584 [GRCh38] Chr10:43622032 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1083C>A (p.Asn361Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001017228]|Multiple endocrine neoplasia, type 2 [RCV000823028]|Multiple endocrine neoplasia, type 2a [RCV000663048]|RET-related condition [RCV003403528]|not provided [RCV002469239]|not specified [RCV001816663] | Chr10:43109050 [GRCh38] Chr10:43604498 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2285-4T>G | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002442386]|Multiple endocrine neoplasia, type 2 [RCV001456357]|Multiple endocrine neoplasia, type 2a [RCV000663194] | Chr10:43118369 [GRCh38] Chr10:43613817 [GRCh37] Chr10:10q11.21 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_020975.6(RET):c.1649-4G>A | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001012564]|Hirschsprung disease, susceptibility to, 1 [RCV001104474]|Multiple endocrine neoplasia [RCV001104476]|Multiple endocrine neoplasia, type 2 [RCV000862007]|Multiple endocrine neoplasia, type 2a [RCV000663217]|Pheochromocytoma [RCV001104477]|Renal hypodysplasia/aplasia 1 [RCV001104475] | Chr10:43112849 [GRCh38] Chr10:43608297 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.2137-16del | deletion | Multiple endocrine neoplasia, type 2 [RCV002060802]|Multiple endocrine neoplasia, type 2a [RCV000663236] | Chr10:43116566 [GRCh38] Chr10:43612014 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2097C>T (p.Ser699=) | single nucleotide variant | not specified [RCV000664377] | Chr10:43114697 [GRCh38] Chr10:43610145 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3122T>G (p.Val1041Gly) | single nucleotide variant | not specified [RCV000664399] | Chr10:43126657 [GRCh38] Chr10:43622105 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1267G>A (p.Gly423Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002369789]|Multiple endocrine neoplasia, type 2 [RCV000704241]|Multiple endocrine neoplasia, type 2a [RCV000662983]|not provided [RCV002464285] | Chr10:43111210 [GRCh38] Chr10:43606658 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3188-2A>G | single nucleotide variant | Multiple endocrine neoplasia, type 2a [RCV000663308] | Chr10:43128110 [GRCh38] Chr10:43623558 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1876C>A (p.Gln626Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002406502]|Multiple endocrine neoplasia, type 2 [RCV001035381]|Multiple endocrine neoplasia, type 2a [RCV000663335] | Chr10:43113672 [GRCh38] Chr10:43609120 [GRCh37] Chr10:10q11.21 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.329G>A (p.Ser110Asn) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000685948] | Chr10:43100714 [GRCh38] Chr10:43596162 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2057G>A (p.Ser686Asn) | single nucleotide variant | not specified [RCV000664376] | Chr10:43114657 [GRCh38] Chr10:43610105 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1280_1281del (p.Val427fs) | microsatellite | Hirschsprung disease, susceptibility to, 1 [RCV000721942] | Chr10:43111219..43111220 [GRCh38] Chr10:43606667..43606668 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.397C>T (p.Arg133Cys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001021572]|Multiple endocrine neoplasia, type 2 [RCV000700090] | Chr10:43102401 [GRCh38] Chr10:43597849 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2776C>T (p.His926Tyr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002440512]|Multiple endocrine neoplasia, type 2 [RCV000701290]|not provided [RCV003322814] | Chr10:43121991 [GRCh38] Chr10:43617439 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1063+20C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002066994]|not provided [RCV000679706] | Chr10:43106591 [GRCh38] Chr10:43602039 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1416C>G (p.Ala472=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002388190]|Multiple endocrine neoplasia, type 2 [RCV002531404]|not provided [RCV000679713] | Chr10:43111359 [GRCh38] Chr10:43606807 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1522+17G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001855628]|not provided [RCV000679717] | Chr10:43111482 [GRCh38] Chr10:43606930 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1609C>T (p.Pro537Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003645867]|not provided [RCV000679720] | Chr10:43112185 [GRCh38] Chr10:43607633 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1064-18T>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002060855]|not specified [RCV000679707] | Chr10:43109013 [GRCh38] Chr10:43604461 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.1470G>A (p.Gln490=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003303101]|Multiple endocrine neoplasia, type 2 [RCV002531405]|not provided [RCV000679715] | Chr10:43111413 [GRCh38] Chr10:43606861 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2249C>G (p.Ala750Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002424576]|Hirschsprung disease, susceptibility to, 1 [RCV003459651]|Multiple endocrine neoplasia, type 2 [RCV001342896]|not provided [RCV000679729] | Chr10:43116696 [GRCh38] Chr10:43612144 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.340C>T (p.Arg114Cys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002458190]|Multiple endocrine neoplasia, type 2 [RCV001218057]|not provided [RCV000679749] | Chr10:43102344 [GRCh38] Chr10:43597792 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1078C>A (p.Arg360=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003768034]|not provided [RCV000679709] | Chr10:43109045 [GRCh38] Chr10:43604493 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.613A>G (p.Arg205Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002352101]|Multiple endocrine neoplasia, type 2 [RCV001344027]|not provided [RCV000679754] | Chr10:43102617 [GRCh38] Chr10:43598065 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2100G>A (p.Met700Ile) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003645868]|not provided [RCV000679727] | Chr10:43114700 [GRCh38] Chr10:43610148 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2716G>A (p.Val906Met) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002531406]|not provided [RCV000679736] | Chr10:43120189 [GRCh38] Chr10:43615637 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2731-8C>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001443766]|not provided [RCV000679737] | Chr10:43121938 [GRCh38] Chr10:43617386 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.602G>C (p.Ser201Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002352100]|Hirschsprung disease, susceptibility to, 1 [RCV002499197]|Hirschsprung disease, susceptibility to, 1 [RCV003459652]|Multiple endocrine neoplasia, type 2 [RCV001066218]|not provided [RCV000679753] | Chr10:43102606 [GRCh38] Chr10:43598054 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3093C>T (p.Asp1031=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002325342]|Multiple endocrine neoplasia, type 2 [RCV001078589]|not provided [RCV000679743] | Chr10:43126628 [GRCh38] Chr10:43622076 [GRCh37] Chr10:10q11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.860G>A (p.Arg287Gln) | single nucleotide variant | Aganglionic megacolon [RCV000678744] | Chr10:43105186 [GRCh38] Chr10:43600634 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.950C>T (p.Thr317Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003380690]|Hirschsprung disease, susceptibility to, 1 [RCV003460970]|Multiple endocrine neoplasia, type 2 [RCV000701617]|RET-related condition [RCV003420247] | Chr10:43106458 [GRCh38] Chr10:43601906 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2087C>T (p.Ser696Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003352996]|Multiple endocrine neoplasia, type 2 [RCV000702723] | Chr10:43114687 [GRCh38] Chr10:43610135 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.398G>A (p.Arg133His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001021592]|Hirschsprung disease, susceptibility to, 1 [RCV002485619]|Multiple endocrine neoplasia, type 2 [RCV000688498]|not specified [RCV002469258] | Chr10:43102402 [GRCh38] Chr10:43597850 [GRCh37] Chr10:10q11.21 |
benign|likely benign|uncertain significance |
NM_020975.6(RET):c.999C>G (p.His333Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003372820]|Multiple endocrine neoplasia, type 2 [RCV000699370] | Chr10:43106507 [GRCh38] Chr10:43601955 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.805G>C (p.Ala269Pro) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000685667] | Chr10:43105131 [GRCh38] Chr10:43600579 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3280A>C (p.Ser1094Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002442438]|Multiple endocrine neoplasia, type 2 [RCV000689814] | Chr10:43128204 [GRCh38] Chr10:43623652 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1904G>T (p.Arg635Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000692880] | Chr10:43114504 [GRCh38] Chr10:43609952 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1573C>G (p.Arg525Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001012215]|Hirschsprung disease, susceptibility to, 1 [RCV003459690]|Multiple endocrine neoplasia, type 2 [RCV000692964]|not provided [RCV002261180] | Chr10:43112149 [GRCh38] Chr10:43607597 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1487C>T (p.Ala496Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000708752]|Multiple endocrine neoplasia, type 2 [RCV000810164] | Chr10:43111430 [GRCh38] Chr10:43606878 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.182A>C (p.Glu61Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000708753]|Multiple endocrine neoplasia, type 2 [RCV002532885] | Chr10:43100567 [GRCh38] Chr10:43596015 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2162G>A (p.Arg721Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000708757]|Hirschsprung disease, susceptibility to, 1 [RCV002485780]|Hirschsprung disease, susceptibility to, 1 [RCV003460990]|Multiple endocrine neoplasia, type 2 [RCV001205883]|not provided [RCV001545206] | Chr10:43116609 [GRCh38] Chr10:43612057 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3079C>G (p.Leu1027Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000708759]|Multiple endocrine neoplasia, type 2 [RCV001226185] | Chr10:43126614 [GRCh38] Chr10:43622062 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.428C>T (p.Ala143Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002332518]|Multiple endocrine neoplasia, type 2 [RCV002532889]|Multiple endocrine neoplasia, type 2a [RCV000709101] | Chr10:43102432 [GRCh38] Chr10:43597880 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.652C>T (p.Pro218Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002360840]|Hirschsprung disease, susceptibility to, 1 [RCV002477638]|Multiple endocrine neoplasia, type 2 [RCV001052830]|Multiple endocrine neoplasia, type 2a [RCV000709103] | Chr10:43104978 [GRCh38] Chr10:43600426 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1183G>C (p.Val395Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002332519]|Multiple endocrine neoplasia, type 2 [RCV001233523]|Multiple endocrine neoplasia, type 2a [RCV000709107]|Pheochromocytoma [RCV003403639]|not provided [RCV003235370] | Chr10:43109150 [GRCh38] Chr10:43604598 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1377G>T (p.Glu459Asp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001231838]|Multiple endocrine neoplasia, type 2a [RCV000709108] | Chr10:43111320 [GRCh38] Chr10:43606768 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2834T>C (p.Val945Ala) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001319503]|Multiple endocrine neoplasia, type 2a [RCV000709124] | Chr10:43123703 [GRCh38] Chr10:43619151 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1094C>T (p.Ser365Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001017260]|Hirschsprung disease, susceptibility to, 1 [RCV003459671]|Multiple endocrine neoplasia, type 2 [RCV000687406]|not provided [RCV003442020] | Chr10:43109061 [GRCh38] Chr10:43604509 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.433G>A (p.Val145Ile) | single nucleotide variant | Congenital central hypoventilation [RCV000764893]|Hereditary cancer-predisposing syndrome [RCV002332452]|Multiple endocrine neoplasia, type 2 [RCV000695077]|not provided [RCV001269771] | Chr10:43102437 [GRCh38] Chr10:43597885 [GRCh37] Chr10:10q11.21 |
likely pathogenic|uncertain significance |
NM_020975.6(RET):c.224C>T (p.Thr75Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001014923]|Multiple endocrine neoplasia, type 2 [RCV000690605]|Ovarian cancer [RCV003153803]|not provided [RCV001662755] | Chr10:43100609 [GRCh38] Chr10:43596057 [GRCh37] Chr10:10q11.21 |
benign|likely benign|uncertain significance |
NM_020975.6(RET):c.1423C>T (p.Arg475Trp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001011519]|Hirschsprung disease, susceptibility to, 1 [RCV002499241]|Multiple endocrine neoplasia, type 2 [RCV000693492]|Multiple endocrine neoplasia, type 2a [RCV000709109]|not provided [RCV003159152] | Chr10:43111366 [GRCh38] Chr10:43606814 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2264T>C (p.Val755Ala) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000702304] | Chr10:43116711 [GRCh38] Chr10:43612159 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3152C>T (p.Ala1051Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000688272] | Chr10:43126687 [GRCh38] Chr10:43622135 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1450A>G (p.Met484Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002388321]|Multiple endocrine neoplasia, type 2 [RCV000702631] | Chr10:43111393 [GRCh38] Chr10:43606841 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1547C>G (p.Pro516Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002397394]|Hirschsprung disease, susceptibility to, 1 [RCV002485643]|Multiple endocrine neoplasia, type 2 [RCV000691033]|not provided [RCV003148828] | Chr10:43112123 [GRCh38] Chr10:43607571 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.484C>T (p.Pro162Ser) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV001103793]|Multiple endocrine neoplasia [RCV001103794]|Multiple endocrine neoplasia, type 2 [RCV000688770]|Pheochromocytoma [RCV001103791]|Renal hypodysplasia/aplasia 1 [RCV001103792] | Chr10:43102488 [GRCh38] Chr10:43597936 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.47T>A (p.Leu16Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003163176]|Hirschsprung disease, susceptibility to, 1 [RCV003465590]|Multiple endocrine neoplasia, type 2 [RCV000694092] | Chr10:43077305 [GRCh38] Chr10:43572753 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1973A>G (p.His658Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002422542]|Multiple endocrine neoplasia, type 2 [RCV000697806] | Chr10:43114573 [GRCh38] Chr10:43610021 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.826G>T (p.Val276Phe) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001027347]|Hirschsprung disease, susceptibility to, 1 [RCV003460961]|Multiple endocrine neoplasia, type 2 [RCV000699501] | Chr10:43105152 [GRCh38] Chr10:43600600 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3154C>G (p.Leu1052Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000686589] | Chr10:43126689 [GRCh38] Chr10:43622137 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.43_51del (p.Leu17_Leu19del) | deletion | Hereditary cancer-predisposing syndrome [RCV002332497]|Multiple endocrine neoplasia, type 2 [RCV000703975] | Chr10:43077295..43077303 [GRCh38] Chr10:43572743..43572751 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1682G>C (p.Ser561Thr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000692592] | Chr10:43112886 [GRCh38] Chr10:43608334 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.754G>A (p.Glu252Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001026552]|Multiple endocrine neoplasia, type 2 [RCV000706652] | Chr10:43105080 [GRCh38] Chr10:43600528 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.765G>T (p.Met255Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000708760] | Chr10:43105091 [GRCh38] Chr10:43600539 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.7A>G (p.Lys3Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000708761]|Multiple endocrine neoplasia, type 2 [RCV001213441] | Chr10:43077265 [GRCh38] Chr10:43572713 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2129A>G (p.Lys710Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000708756]|Hirschsprung disease, susceptibility to, 1 [RCV001104668]|Hirschsprung disease, susceptibility to, 1 [RCV002499266]|Multiple endocrine neoplasia [RCV001104665]|Multiple endocrine neoplasia, type 2 [RCV000703840]|Multiple endocrine neoplasia, type 2a [RCV000709118]|Pheochromocytoma [RCV001104666]|Renal hypodysplasia/aplasia 1 [RCV001104667] | Chr10:43114729 [GRCh38] Chr10:43610177 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1466A>T (p.Asp489Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2a [RCV000709112] | Chr10:43111409 [GRCh38] Chr10:43606857 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3094G>A (p.Gly1032Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001018566]|Hirschsprung disease, susceptibility to, 1 [RCV003460986]|Multiple endocrine neoplasia, type 2 [RCV000706711]|not provided [RCV003238196] | Chr10:43126629 [GRCh38] Chr10:43622077 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3187G>C (p.Gly1063Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000692782] | Chr10:43126722 [GRCh38] Chr10:43622170 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3060_3062del (p.Ser1021del) | deletion | Multiple endocrine neoplasia, type 2 [RCV000704533] | Chr10:43126594..43126596 [GRCh38] Chr10:43622042..43622044 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3056C>T (p.Ala1019Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001018353]|Multiple endocrine neoplasia, type 2 [RCV000693322]|not provided [RCV003420231] | Chr10:43126591 [GRCh38] Chr10:43622039 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3196G>C (p.Asp1066His) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000695357] | Chr10:43128120 [GRCh38] Chr10:43623568 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1734C>G (p.Ile578Met) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000690806] | Chr10:43112938 [GRCh38] Chr10:43608386 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2931C>T (p.Ser977=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002440521]|Multiple endocrine neoplasia, type 2 [RCV000702919] | Chr10:43123800 [GRCh38] Chr10:43619248 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3157C>A (p.Pro1053Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003362895]|Multiple endocrine neoplasia, type 2 [RCV000690718] | Chr10:43126692 [GRCh38] Chr10:43622140 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1484A>G (p.Gln495Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002388340]|Multiple endocrine neoplasia, type 2 [RCV000705140] | Chr10:43111427 [GRCh38] Chr10:43606875 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3271C>A (p.Pro1091Thr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000693763] | Chr10:43128195 [GRCh38] Chr10:43623643 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2413G>C (p.Glu805Gln) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000688750] | Chr10:43119551 [GRCh38] Chr10:43614999 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2476T>C (p.Tyr826His) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000691161] | Chr10:43119614 [GRCh38] Chr10:43615062 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3256G>A (p.Gly1086Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002325368]|Multiple endocrine neoplasia, type 2 [RCV000688843] | Chr10:43128180 [GRCh38] Chr10:43623628 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.745G>A (p.Ala249Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002388231]|Multiple endocrine neoplasia, type 2 [RCV000691219] | Chr10:43105071 [GRCh38] Chr10:43600519 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3027G>A (p.Met1009Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002256469]|Hirschsprung disease, susceptibility to, 1 [RCV003459686]|Multiple endocrine neoplasia, type 2 [RCV000691243] | Chr10:43124970 [GRCh38] Chr10:43620418 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2182A>G (p.Lys728Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002424623]|Hirschsprung disease, susceptibility to, 1 [RCV002485646]|Multiple endocrine neoplasia, type 2 [RCV000691463] | Chr10:43116629 [GRCh38] Chr10:43612077 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2071G>C (p.Gly691Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002422601]|Multiple endocrine neoplasia, type 2 [RCV000705637] | Chr10:43114671 [GRCh38] Chr10:43610119 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2755G>C (p.Ala919Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002440539]|Hirschsprung disease, susceptibility to, 1 [RCV002485764]|Multiple endocrine neoplasia, type 2 [RCV000705686]|RET-related condition [RCV003403635] | Chr10:43121970 [GRCh38] Chr10:43617418 [GRCh37] Chr10:10q11.21 |
likely pathogenic|uncertain significance |
NM_020975.6(RET):c.3050A>G (p.Asp1017Gly) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000700195] | Chr10:43126585 [GRCh38] Chr10:43622033 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.638C>G (p.Pro213Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000698496] | Chr10:43104964 [GRCh38] Chr10:43600412 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.266A>G (p.Gln89Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001016258]|Multiple endocrine neoplasia, type 2 [RCV000691693] | Chr10:43100651 [GRCh38] Chr10:43596099 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1277G>A (p.Cys426Tyr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001010710]|Hirschsprung disease, susceptibility to, 1 [RCV003465581]|Multiple endocrine neoplasia, type 2 [RCV000691749]|not specified [RCV002307593] | Chr10:43111220 [GRCh38] Chr10:43606668 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2599G>A (p.Glu867Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001016056]|Multiple endocrine neoplasia, type 2 [RCV000696801] | Chr10:43119737 [GRCh38] Chr10:43615185 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1264-6C>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000703490] | Chr10:43111201 [GRCh38] Chr10:43606649 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2284+46G>C | single nucleotide variant | not provided [RCV001566392] | Chr10:43116777 [GRCh38] Chr10:43612225 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.3187+6dup | duplication | Multiple endocrine neoplasia, type 2 [RCV001412291] | Chr10:43126726..43126727 [GRCh38] Chr10:43622174..43622175 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2607+9A>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000806096] | Chr10:43119754 [GRCh38] Chr10:43615202 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.826G>A (p.Val276Ile) | single nucleotide variant | not provided [RCV001531056] | Chr10:43105152 [GRCh38] Chr10:43600600 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.111G>A (p.Trp37Ter) | single nucleotide variant | Aganglionic megacolon [RCV000736270] | Chr10:43100496 [GRCh38] Chr10:43595944 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.440T>C (p.Phe147Ser) | single nucleotide variant | Aganglionic megacolon [RCV000736272] | Chr10:43102444 [GRCh38] Chr10:43597892 [GRCh37] Chr10:10q11.21 |
likely pathogenic |
NM_020975.6(RET):c.604G>C (p.Val202Leu) | single nucleotide variant | Aganglionic megacolon [RCV000736273] | Chr10:43102608 [GRCh38] Chr10:43598056 [GRCh37] Chr10:10q11.21 |
likely pathogenic |
NM_020975.6(RET):c.2437C>T (p.Arg813Trp) | single nucleotide variant | Aganglionic megacolon [RCV000736277]|Multiple endocrine neoplasia, type 2 [RCV001855849] | Chr10:43119575 [GRCh38] Chr10:43615023 [GRCh37] Chr10:10q11.21 |
likely pathogenic|uncertain significance |
NM_020975.6(RET):c.2865dup (p.Pro956fs) | duplication | Aganglionic megacolon [RCV000736278]|Multiple endocrine neoplasia, type 2 [RCV003532254]|not provided [RCV003324791] | Chr10:43123732..43123733 [GRCh38] Chr10:43619180..43619181 [GRCh37] Chr10:10q11.21 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 | copy number gain | not provided [RCV000749465] | Chr10:98087..135477883 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10q11.21(chr10:43439353-43680587)x3 | copy number gain | not provided [RCV000749579] | Chr10:43439353..43680587 [GRCh37] Chr10:10q11.21 |
benign |
GRCh37/hg19 10q11.21(chr10:43451430-43630564)x3 | copy number gain | not provided [RCV000749580] | Chr10:43451430..43630564 [GRCh37] Chr10:10q11.21 |
benign |
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 | copy number gain | not provided [RCV000749464] | Chr10:73232..135524321 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
NM_020975.6(RET):c.957C>G (p.Leu319=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002382203]|not provided [RCV000976926] | Chr10:43106465 [GRCh38] Chr10:43601913 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.626-7T>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000871775] | Chr10:43104945 [GRCh38] Chr10:43600393 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.1413G>A (p.Lys471=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003307738]|Multiple endocrine neoplasia, type 2 [RCV001431479] | Chr10:43111356 [GRCh38] Chr10:43606804 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1064-89A>T | single nucleotide variant | not provided [RCV001690457] | Chr10:43108942 [GRCh38] Chr10:43604390 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.1656C>A (p.Thr552=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002400078]|Multiple endocrine neoplasia, type 2 [RCV000941222] | Chr10:43112860 [GRCh38] Chr10:43608308 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.73+9494A>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001515286]|not provided [RCV000860559] | Chr10:43086825 [GRCh38] Chr10:43582273 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.2285-85G>A | single nucleotide variant | not provided [RCV001612820] | Chr10:43118288 [GRCh38] Chr10:43613736 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.1648+10G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000897128]|not specified [RCV001818722] | Chr10:43112234 [GRCh38] Chr10:43607682 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.2784C>T (p.Tyr928=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002434147]|Multiple endocrine neoplasia, type 2 [RCV001470089] | Chr10:43121999 [GRCh38] Chr10:43617447 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1264-5C>A | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002414269]|Hirschsprung disease, susceptibility to, 1 [RCV002488386]|Multiple endocrine neoplasia, type 2 [RCV001866004]|not provided [RCV001566899] | Chr10:43111202 [GRCh38] Chr10:43606650 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.73+9331A>G | single nucleotide variant | not provided [RCV001612049] | Chr10:43086662 [GRCh38] Chr10:43582110 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.73+172A>C | single nucleotide variant | not provided [RCV001647973] | Chr10:43077503 [GRCh38] Chr10:43572951 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.868-265G>A | single nucleotide variant | not provided [RCV001708488] | Chr10:43106111 [GRCh38] Chr10:43601559 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.202C>T (p.Leu68=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002416192]|Multiple endocrine neoplasia, type 2 [RCV000938652] | Chr10:43100587 [GRCh38] Chr10:43596035 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1284A>G (p.Glu428=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002382149]|Multiple endocrine neoplasia, type 2 [RCV000940023] | Chr10:43111227 [GRCh38] Chr10:43606675 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1202G>A (p.Ser401Asn) | single nucleotide variant | Ependymoma [RCV000761047] | Chr10:43109169 [GRCh38] Chr10:43604617 [GRCh37] Chr10:10q11.21 |
uncertain significance |
GRCh37/hg19 10p11.21-q11.22(chr10:37149872-46169876)x3 | copy number gain | not provided [RCV000762700] | Chr10:37149872..46169876 [GRCh37] Chr10:10p11.21-q11.22 |
likely pathogenic |
NM_020975.6(RET):c.1264-3del | deletion | Hereditary cancer-predisposing syndrome [RCV002445355]|Multiple endocrine neoplasia, type 2 [RCV001068463] | Chr10:43111204 [GRCh38] Chr10:43606652 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1013C>A (p.Thr338Asn) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001065905] | Chr10:43106521 [GRCh38] Chr10:43601969 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.626-151G>A | single nucleotide variant | not provided [RCV001577305] | Chr10:43104801 [GRCh38] Chr10:43600249 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3184T>C (p.Tyr1062His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001019049]|Hirschsprung disease, susceptibility to, 1 [RCV002479216]|Multiple endocrine neoplasia, type 2 [RCV001247987]|RET-related condition [RCV003962995] | Chr10:43126719 [GRCh38] Chr10:43622167 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1249C>T (p.Arg417Cys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002400260]|Multiple endocrine neoplasia, type 2 [RCV001045751] | Chr10:43109216 [GRCh38] Chr10:43604664 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1263+57del | deletion | not provided [RCV001567094] | Chr10:43109283 [GRCh38] Chr10:43604731 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1996_2001del (p.Lys666_Pro667del) | deletion | Multiple endocrine neoplasia, type 2 [RCV001067241] | Chr10:43114596..43114601 [GRCh38] Chr10:43610044..43610049 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NC_000010.11:g.(?_43118363)_(43128277_?)dup | duplication | Multiple endocrine neoplasia, type 2 [RCV001031171] | Chr10:43613811..43623725 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.73+53G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2a [RCV002466688]|not provided [RCV001609513] | Chr10:43077384 [GRCh38] Chr10:43572832 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.1522+7G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000981623] | Chr10:43111472 [GRCh38] Chr10:43606920 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1125G>T (p.Leu375=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001469361] | Chr10:43109092 [GRCh38] Chr10:43604540 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2262G>C (p.Thr754=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002445101]|Multiple endocrine neoplasia, type 2 [RCV001436292] | Chr10:43116709 [GRCh38] Chr10:43612157 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.231C>T (p.Arg77=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003169207]|Multiple endocrine neoplasia, type 2 [RCV000877521]|RET-related condition [RCV003895388] | Chr10:43100616 [GRCh38] Chr10:43596064 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2136+9C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000876638]|RET-related condition [RCV003895378] | Chr10:43114745 [GRCh38] Chr10:43610193 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.798C>T (p.Asp266=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001470586] | Chr10:43105124 [GRCh38] Chr10:43600572 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1314C>T (p.Val438=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001456933] | Chr10:43111257 [GRCh38] Chr10:43606705 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2589G>A (p.Gln863=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001016028]|Multiple endocrine neoplasia, type 2 [RCV000867547] | Chr10:43119727 [GRCh38] Chr10:43615175 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.73+9del | deletion | Multiple endocrine neoplasia, type 2 [RCV000975473] | Chr10:43077340 [GRCh38] Chr10:43572788 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2340G>A (p.Lys780=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001416650] | Chr10:43118428 [GRCh38] Chr10:43613876 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.846G>A (p.Val282=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001017852]|Multiple endocrine neoplasia, type 2 [RCV000866907] | Chr10:43105172 [GRCh38] Chr10:43600620 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.74-7C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001474689] | Chr10:43100452 [GRCh38] Chr10:43595900 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2214G>A (p.Val738=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001014814]|Multiple endocrine neoplasia, type 2 [RCV000864947] | Chr10:43116661 [GRCh38] Chr10:43612109 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.118C>T (p.Leu40=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001010234]|Multiple endocrine neoplasia, type 2 [RCV000867859] | Chr10:43100503 [GRCh38] Chr10:43595951 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2089C>T (p.Leu697=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002416009]|Hirschsprung disease, susceptibility to, 1 [RCV002501251]|Multiple endocrine neoplasia, type 2 [RCV000865755] | Chr10:43114689 [GRCh38] Chr10:43610137 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.87C>G (p.Leu29=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001465855] | Chr10:43100472 [GRCh38] Chr10:43595920 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1359G>C (p.Gly453=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001411389] | Chr10:43111302 [GRCh38] Chr10:43606750 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1590G>A (p.Glu530=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002400132]|Multiple endocrine neoplasia, type 2 [RCV000976233] | Chr10:43112166 [GRCh38] Chr10:43607614 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.843C>G (p.Ala281=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002445027]|Multiple endocrine neoplasia, type 2 [RCV000921936] | Chr10:43105169 [GRCh38] Chr10:43600617 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1038C>T (p.Phe346=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003169211]|Multiple endocrine neoplasia, type 2 [RCV000877679] | Chr10:43106546 [GRCh38] Chr10:43601994 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.819C>G (p.Pro273=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002427232]|Multiple endocrine neoplasia, type 2 [RCV000877701] | Chr10:43105145 [GRCh38] Chr10:43600593 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.6G>A (p.Ala2=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002363466]|Multiple endocrine neoplasia, type 2 [RCV000946319] | Chr10:43077264 [GRCh38] Chr10:43572712 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1713T>C (p.Asp571=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001012818]|Multiple endocrine neoplasia, type 2 [RCV001408628] | Chr10:43112917 [GRCh38] Chr10:43608365 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.702G>A (p.Arg234=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002372669]|Multiple endocrine neoplasia, type 2 [RCV000966647] | Chr10:43105028 [GRCh38] Chr10:43600476 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1311C>T (p.Asn437=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002381949]|Hirschsprung disease, susceptibility to, 1 [RCV002495277]|Multiple endocrine neoplasia, type 2 [RCV001485557] | Chr10:43111254 [GRCh38] Chr10:43606702 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1649-7T>C | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV002495279]|Multiple endocrine neoplasia, type 2 [RCV000868071] | Chr10:43112846 [GRCh38] Chr10:43608294 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3141C>G (p.Pro1047=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001018791]|Multiple endocrine neoplasia, type 2 [RCV002068644]|RET-related condition [RCV003968254] | Chr10:43126676 [GRCh38] Chr10:43622124 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3135T>C (p.Asn1045=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002320079]|Multiple endocrine neoplasia, type 2 [RCV001406432]|RET-related condition [RCV003950640] | Chr10:43126670 [GRCh38] Chr10:43622118 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1648+7C>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000944659] | Chr10:43112231 [GRCh38] Chr10:43607679 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.44TGC[3] (p.Leu18_Leu19del) | microsatellite | Hereditary cancer-predisposing syndrome [RCV002346246]|Multiple endocrine neoplasia, type 2 [RCV001036920] | Chr10:43077302..43077307 [GRCh38] Chr10:43572750..43572755 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.770C>T (p.Pro257Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002400292]|Multiple endocrine neoplasia, type 2 [RCV001051365] | Chr10:43105096 [GRCh38] Chr10:43600544 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1588G>C (p.Glu530Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003160493]|Multiple endocrine neoplasia, type 2 [RCV001061381] | Chr10:43112164 [GRCh38] Chr10:43607612 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.817C>A (p.Pro273Thr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001070943] | Chr10:43105143 [GRCh38] Chr10:43600591 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2344G>T (p.Val782Phe) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001035023] | Chr10:43118432 [GRCh38] Chr10:43613880 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2476T>A (p.Tyr826Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002445230]|Multiple endocrine neoplasia, type 2 [RCV001041046] | Chr10:43119614 [GRCh38] Chr10:43615062 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3184T>G (p.Tyr1062Asp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001035162] | Chr10:43126719 [GRCh38] Chr10:43622167 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.829G>A (p.Asp277Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002429697]|Multiple endocrine neoplasia, type 2 [RCV001062347] | Chr10:43105155 [GRCh38] Chr10:43600603 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2143C>A (p.Pro715Thr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001062412] | Chr10:43116590 [GRCh38] Chr10:43612038 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1646A>G (p.Lys549Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001071173] | Chr10:43112222 [GRCh38] Chr10:43607670 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1631G>A (p.Arg544Lys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001041490] | Chr10:43112207 [GRCh38] Chr10:43607655 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.356T>G (p.Leu119Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001020639] | Chr10:43102360 [GRCh38] Chr10:43597808 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.209A>G (p.Gln70Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002418538]|Multiple endocrine neoplasia, type 2 [RCV001065318]|not provided [RCV003130145] | Chr10:43100594 [GRCh38] Chr10:43596042 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.443C>T (p.Ser148Phe) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002327337]|Hirschsprung disease, susceptibility to, 1 [RCV002482060]|Multiple endocrine neoplasia, type 2 [RCV001061910] | Chr10:43102447 [GRCh38] Chr10:43597895 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1264-196G>A | single nucleotide variant | not provided [RCV001581848] | Chr10:43111011 [GRCh38] Chr10:43606459 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3175A>G (p.Asn1059Asp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001053346] | Chr10:43126710 [GRCh38] Chr10:43622158 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.14C>G (p.Thr5Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001042075] | Chr10:43077272 [GRCh38] Chr10:43572720 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.183G>C (p.Glu61Asp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001059043] | Chr10:43100568 [GRCh38] Chr10:43596016 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.473G>A (p.Ser158Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002339211]|Multiple endocrine neoplasia, type 2 [RCV001042438]|Multiple endocrine neoplasia, type 2a [RCV002291711] | Chr10:43102477 [GRCh38] Chr10:43597925 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.820G>A (p.Ala274Thr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001042523] | Chr10:43105146 [GRCh38] Chr10:43600594 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1440A>T (p.Glu480Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002393238]|Hirschsprung disease, susceptibility to, 1 [RCV003462539]|Multiple endocrine neoplasia, type 2 [RCV001048411] | Chr10:43111383 [GRCh38] Chr10:43606831 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1370C>T (p.Ser457Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001059825] | Chr10:43111313 [GRCh38] Chr10:43606761 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1688A>G (p.Lys563Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001048528] | Chr10:43112892 [GRCh38] Chr10:43608340 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2629G>C (p.Ala877Pro) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV001089963] | Chr10:43120102 [GRCh38] Chr10:43615550 [GRCh37] Chr10:10q11.21 |
likely pathogenic |
NM_020975.6(RET):c.1513G>A (p.Glu505Lys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001057648] | Chr10:43111456 [GRCh38] Chr10:43606904 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.991G>T (p.Val331Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002379492]|Multiple endocrine neoplasia, type 2 [RCV001038634] | Chr10:43106499 [GRCh38] Chr10:43601947 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2014G>T (p.Ala672Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001040301] | Chr10:43114614 [GRCh38] Chr10:43610062 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1264-10G>A | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV002481879]|Multiple endocrine neoplasia, type 2 [RCV001040346] | Chr10:43111197 [GRCh38] Chr10:43606645 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1256T>A (p.Phe419Tyr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000806990] | Chr10:43109223 [GRCh38] Chr10:43604671 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1546C>A (p.Pro516Thr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000807412] | Chr10:43112122 [GRCh38] Chr10:43607570 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1139A>C (p.Asp380Ala) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000807583] | Chr10:43109106 [GRCh38] Chr10:43604554 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2198G>A (p.Gly733Asp) | single nucleotide variant | not specified [RCV000781812] | Chr10:43116645 [GRCh38] Chr10:43612093 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.792C>G (p.Asp264Glu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002298770]|not specified [RCV000781814] | Chr10:43105118 [GRCh38] Chr10:43600566 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1327C>T (p.His443Tyr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002381795]|Multiple endocrine neoplasia, type 2 [RCV000809124] | Chr10:43111270 [GRCh38] Chr10:43606718 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1406A>G (p.Asp469Gly) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000806081] | Chr10:43111349 [GRCh38] Chr10:43606797 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NC_000010.10:g.(?_43572697)_(43623727_?)dup | duplication | Multiple endocrine neoplasia, type 2 [RCV000820581] | Chr10:43077249..43128279 [GRCh38] Chr10:43572697..43623727 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.927G>A (p.Glu309=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000919767] | Chr10:43106435 [GRCh38] Chr10:43601883 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2388G>A (p.Gln796=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002454094]|Multiple endocrine neoplasia, type 2 [RCV001488900] | Chr10:43118476 [GRCh38] Chr10:43613924 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.186G>A (p.Glu62=) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV002495560]|Multiple endocrine neoplasia, type 2 [RCV001494338] | Chr10:43100571 [GRCh38] Chr10:43596019 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.952C>T (p.Leu318=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001019465]|Multiple endocrine neoplasia, type 2 [RCV000939952]|not provided [RCV002264107] | Chr10:43106460 [GRCh38] Chr10:43601908 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.825C>T (p.Gly275=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002427110]|Hirschsprung disease, susceptibility to, 1 [RCV002495241]|Multiple endocrine neoplasia, type 2 [RCV000864240]|not provided [RCV001531055] | Chr10:43105151 [GRCh38] Chr10:43600599 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.90C>T (p.Tyr30=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003372918]|Multiple endocrine neoplasia, type 2 [RCV001425694] | Chr10:43100475 [GRCh38] Chr10:43595923 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1953G>C (p.Leu651=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001406047] | Chr10:43114553 [GRCh38] Chr10:43610001 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2397G>A (p.Pro799=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001015402]|Multiple endocrine neoplasia, type 2 [RCV000878411] | Chr10:43119535 [GRCh38] Chr10:43614983 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2115C>T (p.Ser705=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002415988]|Multiple endocrine neoplasia, type 2 [RCV000863364] | Chr10:43114715 [GRCh38] Chr10:43610163 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.625+10G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000870141]|not specified [RCV002235597] | Chr10:43102639 [GRCh38] Chr10:43598087 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.2352C>T (p.His784=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002445089]|Multiple endocrine neoplasia, type 2 [RCV001475136] | Chr10:43118440 [GRCh38] Chr10:43613888 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3102A>G (p.Ser1034=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002320174]|Multiple endocrine neoplasia, type 2 [RCV000960363] | Chr10:43126637 [GRCh38] Chr10:43622085 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3321A>G (p.Lys1107=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002320040]|Multiple endocrine neoplasia, type 2 [RCV001461653] | Chr10:43128245 [GRCh38] Chr10:43623693 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.789C>T (p.Tyr263=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000943945] | Chr10:43105115 [GRCh38] Chr10:43600563 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.816C>T (p.Phe272=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002255552]|Multiple endocrine neoplasia, type 2 [RCV000865540] | Chr10:43105142 [GRCh38] Chr10:43600590 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1944C>T (p.Val648=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002409186]|Multiple endocrine neoplasia, type 2 [RCV001480064] | Chr10:43114544 [GRCh38] Chr10:43609992 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.49C>T (p.Leu17=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002336974]|Multiple endocrine neoplasia, type 2 [RCV000940811]|not provided [RCV003413741] | Chr10:43077307 [GRCh38] Chr10:43572755 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.933G>A (p.Val311=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000940863] | Chr10:43106441 [GRCh38] Chr10:43601889 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.834C>T (p.Thr278=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001017591]|Multiple endocrine neoplasia, type 2 [RCV001451106] | Chr10:43105160 [GRCh38] Chr10:43600608 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2392+10G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001498502] | Chr10:43118490 [GRCh38] Chr10:43613938 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1063+10G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001428200] | Chr10:43106581 [GRCh38] Chr10:43602029 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2801+7G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000940994] | Chr10:43122023 [GRCh38] Chr10:43617471 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1770T>C (p.Ile590=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002409264]|Multiple endocrine neoplasia, type 2 [RCV001472788] | Chr10:43113566 [GRCh38] Chr10:43609014 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1500G>T (p.Leu500=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001404250] | Chr10:43111443 [GRCh38] Chr10:43606891 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1523-5T>C | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001012003]|Multiple endocrine neoplasia, type 2 [RCV000872147]|not specified [RCV001817017] | Chr10:43112094 [GRCh38] Chr10:43607542 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.2874G>A (p.Glu958=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003169414]|Multiple endocrine neoplasia, type 2 [RCV001415355] | Chr10:43123743 [GRCh38] Chr10:43619191 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.174C>T (p.Asp58=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001012975]|Multiple endocrine neoplasia, type 2 [RCV001431798] | Chr10:43100559 [GRCh38] Chr10:43596007 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.651C>T (p.Ala217=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002363434]|Multiple endocrine neoplasia, type 2 [RCV001475126] | Chr10:43104977 [GRCh38] Chr10:43600425 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3123G>A (p.Val1041=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000875391]|RET-related condition [RCV003975476] | Chr10:43126658 [GRCh38] Chr10:43622106 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.333C>G (p.Val111=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001020032]|Multiple endocrine neoplasia, type 2 [RCV000873696] | Chr10:43100718 [GRCh38] Chr10:43596166 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.947G>A (p.Ser316Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001019396] | Chr10:43106455 [GRCh38] Chr10:43601903 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3294C>A (p.Asn1098Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001019747]|Multiple endocrine neoplasia, type 2 [RCV001873321] | Chr10:43128218 [GRCh38] Chr10:43623666 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2392+159G>A | single nucleotide variant | not provided [RCV000837285] | Chr10:43118639 [GRCh38] Chr10:43614087 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2801+243G>C | single nucleotide variant | not provided [RCV000837308] | Chr10:43122259 [GRCh38] Chr10:43617707 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3204C>G (p.Asn1068Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001019206] | Chr10:43128128 [GRCh38] Chr10:43623576 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1063A>T (p.Arg355Trp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003372863]|Multiple endocrine neoplasia, type 2 [RCV000809507] | Chr10:43106571 [GRCh38] Chr10:43602019 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2066C>T (p.Ser689Phe) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003169037]|Multiple endocrine neoplasia, type 2 [RCV000822677] | Chr10:43114666 [GRCh38] Chr10:43610114 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1282G>A (p.Glu428Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001010740]|Hirschsprung disease, susceptibility to, 1 [RCV003461279]|Multiple endocrine neoplasia, type 2 [RCV000822714] | Chr10:43111225 [GRCh38] Chr10:43606673 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1468C>A (p.Gln490Lys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000809745] | Chr10:43111411 [GRCh38] Chr10:43606859 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1749G>A (p.Gln583=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003166328]|Multiple endocrine neoplasia, type 2 [RCV000813785] | Chr10:43112953 [GRCh38] Chr10:43608401 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.2923A>T (p.Asn975Tyr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002434019]|Multiple endocrine neoplasia, type 2 [RCV000822805] | Chr10:43123792 [GRCh38] Chr10:43619240 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2243G>A (p.Gly748Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002415922]|Multiple endocrine neoplasia, type 2 [RCV000819233] | Chr10:43116690 [GRCh38] Chr10:43612138 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.907G>A (p.Val303Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003166333]|Multiple endocrine neoplasia, type 2 [RCV000814354] | Chr10:43106415 [GRCh38] Chr10:43601863 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1783G>T (p.Glu595Ter) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000814670] | Chr10:43113579 [GRCh38] Chr10:43609027 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.1295_1296delinsAG (p.Ala432Glu) | indel | Hereditary cancer-predisposing syndrome [RCV002386403]|Multiple endocrine neoplasia, type 2 [RCV000797130] | Chr10:43111238..43111239 [GRCh38] Chr10:43606686..43606687 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1580A>C (p.Glu527Ala) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000799518] | Chr10:43112156 [GRCh38] Chr10:43607604 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1343A>G (p.Asn448Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002386436]|Multiple endocrine neoplasia, type 2 [RCV000802993] | Chr10:43111286 [GRCh38] Chr10:43606734 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.388A>G (p.Thr130Ala) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000798358] | Chr10:43102392 [GRCh38] Chr10:43597840 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.714G>T (p.Glu238Asp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000798457] | Chr10:43105040 [GRCh38] Chr10:43600488 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.82G>A (p.Gly28Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002424881]|Hirschsprung disease, susceptibility to, 1 [RCV002495105]|Multiple endocrine neoplasia, type 2 [RCV000807337]|not provided [RCV003148868] | Chr10:43100467 [GRCh38] Chr10:43595915 [GRCh37] Chr10:10q11.21 |
benign|uncertain significance |
NM_020975.6(RET):c.3052C>A (p.Leu1018Ile) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000798782] | Chr10:43126587 [GRCh38] Chr10:43622035 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1985A>C (p.Lys662Thr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000799735] | Chr10:43114585 [GRCh38] Chr10:43610033 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2423A>C (p.Lys808Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002442735]|Multiple endocrine neoplasia, type 2 [RCV000816192] | Chr10:43119561 [GRCh38] Chr10:43615009 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1533G>T (p.Glu511Asp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000801428] | Chr10:43112109 [GRCh38] Chr10:43607557 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3019A>G (p.Lys1007Glu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000817849] | Chr10:43124962 [GRCh38] Chr10:43620410 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.44TGC[6] (p.Leu19_Pro20insLeu) | microsatellite | Hereditary cancer-predisposing syndrome [RCV002345796]|Multiple endocrine neoplasia, type 2 [RCV000803187] | Chr10:43077301..43077302 [GRCh38] Chr10:43572749..43572750 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.2183A>G (p.Lys728Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000799901] | Chr10:43116630 [GRCh38] Chr10:43612078 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.30G>T (p.Gly10=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000819741] | Chr10:43077288 [GRCh38] Chr10:43572736 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.867+7G>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001396584] | Chr10:43105200 [GRCh38] Chr10:43600648 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.73+104C>T | single nucleotide variant | not provided [RCV000836364] | Chr10:43077435 [GRCh38] Chr10:43572883 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3188-1G>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000824296] | Chr10:43128111 [GRCh38] Chr10:43623559 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.74-126G>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001520523]|not provided [RCV000836532] | Chr10:43100333 [GRCh38] Chr10:43595781 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.867+223A>T | single nucleotide variant | not provided [RCV000836533] | Chr10:43105416 [GRCh38] Chr10:43600864 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.1759+111G>C | single nucleotide variant | not provided [RCV000836534] | Chr10:43113074 [GRCh38] Chr10:43608522 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.2137-167T>C | single nucleotide variant | not provided [RCV000836535] | Chr10:43116417 [GRCh38] Chr10:43611865 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.701G>A (p.Arg234Gln) | single nucleotide variant | Familial medullary thyroid carcinoma [RCV001788362]|Hereditary cancer-predisposing syndrome [RCV002363147]|Hirschsprung disease, susceptibility to, 1 [RCV002495168]|Multiple endocrine neoplasia, type 2 [RCV000819920]|not provided [RCV003130074] | Chr10:43105027 [GRCh38] Chr10:43600475 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1063A>G (p.Arg355Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001009795]|Multiple endocrine neoplasia, type 2 [RCV000824530] | Chr10:43106571 [GRCh38] Chr10:43602019 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.2608-147C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002466593]|not provided [RCV000836540] | Chr10:43119934 [GRCh38] Chr10:43615382 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.2940-197C>T | single nucleotide variant | not provided [RCV000836557] | Chr10:43124686 [GRCh38] Chr10:43620134 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.1649-187C>T | single nucleotide variant | not provided [RCV000836560] | Chr10:43112666 [GRCh38] Chr10:43608114 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.2159C>T (p.Pro720Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000803670] | Chr10:43116606 [GRCh38] Chr10:43612054 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3040G>A (p.Asp1014Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002442678]|Multiple endocrine neoplasia, type 2 [RCV000803728] | Chr10:43126575 [GRCh38] Chr10:43622023 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2491G>A (p.Gly831Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001015690]|Multiple endocrine neoplasia, type 2 [RCV000800320] | Chr10:43119629 [GRCh38] Chr10:43615077 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NC_000010.11:g.43118499T>C | single nucleotide variant | not provided [RCV000835063] | Chr10:43613947 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2542A>T (p.Met848Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002427048]|Multiple endocrine neoplasia, type 2 [RCV000820257] | Chr10:43119680 [GRCh38] Chr10:43615128 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.268G>T (p.Glu90Ter) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000796315] | Chr10:43100653 [GRCh38] Chr10:43596101 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.1840G>A (p.Glu614Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002406865]|Multiple endocrine neoplasia, type 2 [RCV000816994] | Chr10:43113636 [GRCh38] Chr10:43609084 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1222T>C (p.Tyr408His) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000818596] | Chr10:43109189 [GRCh38] Chr10:43604637 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2483G>T (p.Gly828Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000818651] | Chr10:43119621 [GRCh38] Chr10:43615069 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.526A>T (p.Ile176Phe) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000805758] | Chr10:43102530 [GRCh38] Chr10:43597978 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3339T>C (p.Asp1113=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001020030]|Multiple endocrine neoplasia, type 2 [RCV001347101]|not provided [RCV000994381] | Chr10:43128263 [GRCh38] Chr10:43623711 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.625+139C>T | single nucleotide variant | not provided [RCV000839016] | Chr10:43102768 [GRCh38] Chr10:43598216 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1879+9G>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001506306] | Chr10:43113684 [GRCh38] Chr10:43609132 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1294G>A (p.Ala432Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002386382]|Multiple endocrine neoplasia, type 2 [RCV000792888] | Chr10:43111237 [GRCh38] Chr10:43606685 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1271A>G (p.Lys424Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002370104]|Multiple endocrine neoplasia, type 2 [RCV000799163] | Chr10:43111214 [GRCh38] Chr10:43606662 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1990G>T (p.Ala664Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002422793]|Multiple endocrine neoplasia, type 2 [RCV000812236] | Chr10:43114590 [GRCh38] Chr10:43610038 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1456G>T (p.Val486Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002390643]|Multiple endocrine neoplasia, type 2 [RCV000812410] | Chr10:43111399 [GRCh38] Chr10:43606847 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3076T>C (p.Ser1026Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003166320]|Multiple endocrine neoplasia, type 2 [RCV000812870] | Chr10:43126611 [GRCh38] Chr10:43622059 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2802-9T>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000793856] | Chr10:43123662 [GRCh38] Chr10:43619110 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2438G>A (p.Arg813Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002458436]|Multiple endocrine neoplasia, type 2 [RCV000796744]|RET-related condition [RCV003892713] | Chr10:43119576 [GRCh38] Chr10:43615024 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1421G>A (p.Arg474Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001011510]|Multiple endocrine neoplasia, type 2 [RCV000800480] | Chr10:43111364 [GRCh38] Chr10:43606812 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.3176A>T (p.Asn1059Ile) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000822898] | Chr10:43126711 [GRCh38] Chr10:43622159 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2090T>A (p.Leu697Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002422766]|Multiple endocrine neoplasia, type 2 [RCV000806712] | Chr10:43114690 [GRCh38] Chr10:43610138 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2063C>T (p.Ser688Phe) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002422770]|Multiple endocrine neoplasia, type 2 [RCV000807201] | Chr10:43114663 [GRCh38] Chr10:43610111 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2973G>C (p.Glu991Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002440777]|Multiple endocrine neoplasia, type 2 [RCV000813839] | Chr10:43124916 [GRCh38] Chr10:43620364 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.736C>T (p.His246Tyr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000801424] | Chr10:43105062 [GRCh38] Chr10:43600510 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.337+247C>T | single nucleotide variant | not provided [RCV000836365] | Chr10:43100969 [GRCh38] Chr10:43596417 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1273G>T (p.Val425Phe) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000818149] | Chr10:43111216 [GRCh38] Chr10:43606664 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.961G>T (p.Gly321Trp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000797916] | Chr10:43106469 [GRCh38] Chr10:43601917 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NC_000010.11:g.43077063C>A | single nucleotide variant | not provided [RCV000836537] | Chr10:43572511 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.337+137G>T | single nucleotide variant | not provided [RCV000836538] | Chr10:43100859 [GRCh38] Chr10:43596307 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.625+118A>G | single nucleotide variant | not provided [RCV000836539] | Chr10:43102747 [GRCh38] Chr10:43598195 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.391T>C (p.Ser131Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003166245]|Multiple endocrine neoplasia, type 2 [RCV000805198] | Chr10:43102395 [GRCh38] Chr10:43597843 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.850G>A (p.Glu284Lys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000794386] | Chr10:43105176 [GRCh38] Chr10:43600624 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.638C>A (p.Pro213His) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000798549] | Chr10:43104964 [GRCh38] Chr10:43600412 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1879+6T>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000824643] | Chr10:43113681 [GRCh38] Chr10:43609129 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.16T>G (p.Ser6Ala) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000811238] | Chr10:43077274 [GRCh38] Chr10:43572722 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2730+229T>C | single nucleotide variant | not provided [RCV000837313] | Chr10:43120432 [GRCh38] Chr10:43615880 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.2731-227C>G | single nucleotide variant | not provided [RCV000837314] | Chr10:43121719 [GRCh38] Chr10:43617167 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.74-158G>T | single nucleotide variant | not provided [RCV000837405] | Chr10:43100301 [GRCh38] Chr10:43595749 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2209A>C (p.Lys737Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002424906]|Hirschsprung disease, susceptibility to, 1 [RCV002487767]|Hirschsprung disease, susceptibility to, 1 [RCV003467454]|Multiple endocrine neoplasia, type 2 [RCV000811558]|RET-related condition [RCV003396421]|not provided [RCV003328632] | Chr10:43116656 [GRCh38] Chr10:43612104 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.22G>T (p.Ala8Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002429602]|Multiple endocrine neoplasia, type 2 [RCV001044660] | Chr10:43077280 [GRCh38] Chr10:43572728 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2365A>G (p.Lys789Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002453836]|Hirschsprung disease, susceptibility to, 1 [RCV002495126]|Hirschsprung disease, susceptibility to, 1 [RCV003461202]|Multiple endocrine neoplasia, type 2 [RCV000811746] | Chr10:43118453 [GRCh38] Chr10:43613901 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.423C>G (p.Gly141=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002332591]|Multiple endocrine neoplasia, type 2 [RCV000793451] | Chr10:43102427 [GRCh38] Chr10:43597875 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1234G>A (p.Val412Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002360916]|Multiple endocrine neoplasia, type 2 [RCV000793652] | Chr10:43109201 [GRCh38] Chr10:43604649 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1705C>T (p.His569Tyr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001045116] | Chr10:43112909 [GRCh38] Chr10:43608357 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1879+1G>A | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000825021]|Multiple endocrine neoplasia, type 2 [RCV003532285]|not provided [RCV003141864] | Chr10:43113676 [GRCh38] Chr10:43609124 [GRCh37] Chr10:10q11.21 |
pathogenic|likely pathogenic |
NM_020975.6(RET):c.2137-31del | deletion | Abnormal facial shape [RCV000782134] | Chr10:43116553 [GRCh38] Chr10:43612001 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2251G>A (p.Gly751Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000791895] | Chr10:43116698 [GRCh38] Chr10:43612146 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1188G>C (p.Ser396=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001010228]|Multiple endocrine neoplasia, type 2 [RCV001488596] | Chr10:43109155 [GRCh38] Chr10:43604603 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.523C>G (p.Arg175Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002334475]|Multiple endocrine neoplasia, type 2 [RCV000794783] | Chr10:43102527 [GRCh38] Chr10:43597975 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.867+171A>T | single nucleotide variant | not provided [RCV000836341] | Chr10:43105364 [GRCh38] Chr10:43600812 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1863G>A (p.Glu621=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002409110]|Multiple endocrine neoplasia, type 2 [RCV003768703] | Chr10:43113659 [GRCh38] Chr10:43609107 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1649-11G>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002067484]|not provided [RCV000828500] | Chr10:43112842 [GRCh38] Chr10:43608290 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.338-201C>G | single nucleotide variant | not provided [RCV000836379] | Chr10:43102141 [GRCh38] Chr10:43597589 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.868-86A>G | single nucleotide variant | not provided [RCV000836380] | Chr10:43106290 [GRCh38] Chr10:43601738 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.314C>T (p.Ser105Phe) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002256519]|Multiple endocrine neoplasia, type 2 [RCV000802029] | Chr10:43100699 [GRCh38] Chr10:43596147 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.113A>T (p.Glu38Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000802041] | Chr10:43100498 [GRCh38] Chr10:43595946 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.306C>T (p.Asp102=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002444958]|Multiple endocrine neoplasia, type 2 [RCV001482750]|not provided [RCV000875671] | Chr10:43100691 [GRCh38] Chr10:43596139 [GRCh37] Chr10:10q11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.2801+8_2801+9del | microsatellite | Multiple endocrine neoplasia, type 2 [RCV000982181] | Chr10:43122021..43122022 [GRCh38] Chr10:43617469..43617470 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3170T>C (p.Ile1057Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002319914]|Multiple endocrine neoplasia, type 2 [RCV000822277] | Chr10:43126705 [GRCh38] Chr10:43622153 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1662C>T (p.Asn554=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001471130] | Chr10:43112866 [GRCh38] Chr10:43608314 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3077C>A (p.Ser1026Tyr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000813028] | Chr10:43126612 [GRCh38] Chr10:43622060 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2412G>T (p.Val804=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001476045] | Chr10:43119550 [GRCh38] Chr10:43614998 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3011A>G (p.Asp1004Gly) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000808074] | Chr10:43124954 [GRCh38] Chr10:43620402 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1879+7G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001468474] | Chr10:43113682 [GRCh38] Chr10:43609130 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2362A>G (p.Ile788Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000800262] | Chr10:43118450 [GRCh38] Chr10:43613898 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.626-6G>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001437695] | Chr10:43104946 [GRCh38] Chr10:43600394 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3317C>G (p.Ala1106Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003166279]|Multiple endocrine neoplasia, type 2 [RCV000808994] | Chr10:43128241 [GRCh38] Chr10:43623689 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1918G>A (p.Ala640Thr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000820405] | Chr10:43114518 [GRCh38] Chr10:43609966 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3021G>C (p.Lys1007Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001018121]|Multiple endocrine neoplasia, type 2 [RCV000820560]|Ovarian cancer [RCV003153865]|not provided [RCV002469300] | Chr10:43124964 [GRCh38] Chr10:43620412 [GRCh37] Chr10:10q11.21 |
likely pathogenic|uncertain significance |
NM_020975.6(RET):c.3145C>T (p.Pro1049Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000814174] | Chr10:43126680 [GRCh38] Chr10:43622128 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2708A>G (p.Asp903Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002433993]|Multiple endocrine neoplasia, type 2 [RCV000817327] | Chr10:43120181 [GRCh38] Chr10:43615629 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1063+145A>G | single nucleotide variant | not provided [RCV000839169] | Chr10:43106716 [GRCh38] Chr10:43602164 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2596G>A (p.Ala866Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002434025]|Multiple endocrine neoplasia, type 2 [RCV000823545] | Chr10:43119734 [GRCh38] Chr10:43615182 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1681A>C (p.Ser561Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000823563] | Chr10:43112885 [GRCh38] Chr10:43608333 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1956G>A (p.Leu652=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002416184]|Multiple endocrine neoplasia, type 2 [RCV001490120]|RET-related condition [RCV003903121] | Chr10:43114556 [GRCh38] Chr10:43610004 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1008C>G (p.Asn336Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001009678]|Hirschsprung disease, susceptibility to, 1 [RCV003467473]|Multiple endocrine neoplasia, type 2 [RCV000814407] | Chr10:43106516 [GRCh38] Chr10:43601964 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.51G>A (p.Leu17=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002336966]|Multiple endocrine neoplasia, type 2 [RCV001404229] | Chr10:43077309 [GRCh38] Chr10:43572757 [GRCh37] Chr10:10q11.21 |
likely benign |
NC_000010.11:g.(?_43100449)_(43102639_?)del | deletion | Multiple endocrine neoplasia, type 2 [RCV000809308] | Chr10:43100449..43102639 [GRCh38] Chr10:43595897..43598087 [GRCh37] Chr10:10q11.21 |
likely pathogenic |
NM_020975.6(RET):c.1469A>G (p.Gln490Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002388457]|Multiple endocrine neoplasia, type 2 [RCV000798219] | Chr10:43111412 [GRCh38] Chr10:43606860 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.760G>A (p.Val254Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002390667]|Multiple endocrine neoplasia, type 2 [RCV000817701] | Chr10:43105086 [GRCh38] Chr10:43600534 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2571G>T (p.Gln857His) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000823912]|RET-related condition [RCV003413660] | Chr10:43119709 [GRCh38] Chr10:43615157 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2710T>G (p.Ser904Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002427074]|Hirschsprung disease, susceptibility to, 1 [RCV002478933]|Multiple endocrine neoplasia, type 2 [RCV000824078] | Chr10:43120183 [GRCh38] Chr10:43615631 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3182T>G (p.Leu1061Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002320254]|Multiple endocrine neoplasia, type 2 [RCV001043065] | Chr10:43126717 [GRCh38] Chr10:43622165 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.123T>C (p.Tyr41=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001435462] | Chr10:43100508 [GRCh38] Chr10:43595956 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2469G>A (p.Gly823=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001503288] | Chr10:43119607 [GRCh38] Chr10:43615055 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3326T>G (p.Met1109Arg) | single nucleotide variant | not provided [RCV000994380] | Chr10:43128250 [GRCh38] Chr10:43623698 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.373G>A (p.Val125Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001021014] | Chr10:43102377 [GRCh38] Chr10:43597825 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3289G>A (p.Ala1097Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001019674] | Chr10:43128213 [GRCh38] Chr10:43623661 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1305C>T (p.Gly435=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001067361] | Chr10:43111248 [GRCh38] Chr10:43606696 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.467C>T (p.Ala156Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001022883]|Multiple endocrine neoplasia, type 2 [RCV001862235] | Chr10:43102471 [GRCh38] Chr10:43597919 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.724G>A (p.Val242Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002375304]|Multiple endocrine neoplasia, type 2 [RCV001248230] | Chr10:43105050 [GRCh38] Chr10:43600498 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.280C>G (p.Leu94Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001248449] | Chr10:43100665 [GRCh38] Chr10:43596113 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2528_2530dup (p.Glu843_Arg844insGln) | duplication | Multiple endocrine neoplasia, type 2 [RCV001046564] | Chr10:43119665..43119666 [GRCh38] Chr10:43615113..43615114 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1514A>T (p.Glu505Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002393599]|Multiple endocrine neoplasia, type 2 [RCV001236477] | Chr10:43111457 [GRCh38] Chr10:43606905 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1003C>A (p.Pro335Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002393589]|Multiple endocrine neoplasia, type 2 [RCV001234203] | Chr10:43106511 [GRCh38] Chr10:43601959 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1432T>C (p.Cys478Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001205858] | Chr10:43111375 [GRCh38] Chr10:43606823 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.68G>T (p.Gly23Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002375209]|Multiple endocrine neoplasia, type 2 [RCV001222560] | Chr10:43077326 [GRCh38] Chr10:43572774 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.4(RET):c.2139_2141del | microsatellite | Multiple endocrine neoplasia, type 2 [RCV001239238] | Chr10:43116582..43116584 [GRCh38] Chr10:43612030..43612032 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2284+4C>G | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003163714]|Multiple endocrine neoplasia, type 2 [RCV001222172] | Chr10:43116735 [GRCh38] Chr10:43612183 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2409C>A (p.Ile803=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002447118]|Multiple endocrine neoplasia, type 2 [RCV001222173] | Chr10:43119547 [GRCh38] Chr10:43614995 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.2218A>G (p.Lys740Glu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001233376] | Chr10:43116665 [GRCh38] Chr10:43612113 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.637C>T (p.Pro213Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001209403] | Chr10:43104963 [GRCh38] Chr10:43600411 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1888T>G (p.Cys630Gly) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001231313] | Chr10:43114488 [GRCh38] Chr10:43609936 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1456G>A (p.Val486Met) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001222383] | Chr10:43111399 [GRCh38] Chr10:43606847 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1564A>T (p.Ser522Cys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001233606] | Chr10:43112140 [GRCh38] Chr10:43607588 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3177C>A (p.Asn1059Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002322068]|Multiple endocrine neoplasia, type 2 [RCV001220997] | Chr10:43126712 [GRCh38] Chr10:43622160 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2053G>A (p.Val685Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002418814]|Multiple endocrine neoplasia, type 2 [RCV001237204] | Chr10:43114653 [GRCh38] Chr10:43610101 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2975C>T (p.Pro992Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001237210] | Chr10:43124918 [GRCh38] Chr10:43620366 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.59C>A (p.Pro20Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002356955]|Hirschsprung disease, susceptibility to, 1 [RCV002504291]|Multiple endocrine neoplasia, type 2 [RCV001224702]|not provided [RCV003442787] | Chr10:43077317 [GRCh38] Chr10:43572765 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1477T>C (p.Ser493Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002393557]|Multiple endocrine neoplasia, type 2 [RCV001226835] | Chr10:43111420 [GRCh38] Chr10:43606868 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1480A>T (p.Arg494Trp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002393558]|Multiple endocrine neoplasia, type 2 [RCV001226836] | Chr10:43111423 [GRCh38] Chr10:43606871 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2029C>T (p.Arg677Trp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002418758]|Multiple endocrine neoplasia, type 2 [RCV001220566] | Chr10:43114629 [GRCh38] Chr10:43610077 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.980A>C (p.Gln327Pro) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001217595] | Chr10:43106488 [GRCh38] Chr10:43601936 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1796C>A (p.Pro599His) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001234772] | Chr10:43113592 [GRCh38] Chr10:43609040 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1239C>A (p.Ser413Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001237295] | Chr10:43109206 [GRCh38] Chr10:43604654 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.791A>G (p.Asp264Gly) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001209440] | Chr10:43105117 [GRCh38] Chr10:43600565 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1783G>A (p.Glu595Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002411888]|Hirschsprung disease, susceptibility to, 1 [RCV003469458]|Multiple endocrine neoplasia, type 2 [RCV001241198] | Chr10:43113579 [GRCh38] Chr10:43609027 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.626G>A (p.Gly209Asp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001206612] | Chr10:43104952 [GRCh38] Chr10:43600400 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.100G>T (p.Asp34Tyr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002436867]|Multiple endocrine neoplasia, type 2 [RCV001223565] | Chr10:43100485 [GRCh38] Chr10:43595933 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.644G>T (p.Arg215Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001235079] | Chr10:43104970 [GRCh38] Chr10:43600418 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2232C>G (p.Phe744Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002429948]|Multiple endocrine neoplasia, type 2 [RCV001223653] | Chr10:43116679 [GRCh38] Chr10:43612127 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.931G>C (p.Val311Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001210026] | Chr10:43106439 [GRCh38] Chr10:43601887 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3332C>T (p.Thr1111Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002322139]|Hirschsprung disease, susceptibility to, 1 [RCV003462806]|Multiple endocrine neoplasia, type 2 [RCV001238151]|not specified [RCV002246228] | Chr10:43128256 [GRCh38] Chr10:43623704 [GRCh37] Chr10:10q11.21 |
benign|uncertain significance |
NM_020975.6(RET):c.1111C>G (p.Gln371Glu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001214845] | Chr10:43109078 [GRCh38] Chr10:43604526 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.645C>G (p.Arg215=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001222000] | Chr10:43104971 [GRCh38] Chr10:43600419 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.614G>A (p.Arg205Lys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001241721] | Chr10:43102618 [GRCh38] Chr10:43598066 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2176C>T (p.Leu726Phe) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001225969] | Chr10:43116623 [GRCh38] Chr10:43612071 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3300G>C (p.Met1100Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003284112]|Multiple endocrine neoplasia, type 2 [RCV001242196] | Chr10:43128224 [GRCh38] Chr10:43623672 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.103G>A (p.Ala35Thr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001226598] | Chr10:43100488 [GRCh38] Chr10:43595936 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1895A>T (p.Glu632Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001211787] | Chr10:43114495 [GRCh38] Chr10:43609943 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2078G>A (p.Arg693His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002418797]|Hirschsprung disease, susceptibility to, 1 [RCV002491748]|Multiple endocrine neoplasia, type 2 [RCV001232485]|not specified [RCV003387978] | Chr10:43114678 [GRCh38] Chr10:43610126 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1658G>A (p.Arg553Lys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001235840] | Chr10:43112862 [GRCh38] Chr10:43608310 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2116G>T (p.Val706Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001241880] | Chr10:43114716 [GRCh38] Chr10:43610164 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1162G>T (p.Val388Phe) | single nucleotide variant | Multiple endocrine neoplasia, type 2b [RCV001197610] | Chr10:43109129 [GRCh38] Chr10:43604577 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2778T>G (p.His926Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003166398]|Multiple endocrine neoplasia, type 2 [RCV001229882] | Chr10:43121993 [GRCh38] Chr10:43617441 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1995C>A (p.His665Gln) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001204505]|not provided [RCV003238316] | Chr10:43114595 [GRCh38] Chr10:43610043 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.712G>T (p.Glu238Ter) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000853339] | Chr10:43105038 [GRCh38] Chr10:43600486 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.860G>T (p.Arg287Leu) | single nucleotide variant | Aganglionic megacolon [RCV000853370] | Chr10:43105186 [GRCh38] Chr10:43600634 [GRCh37] Chr10:10q11.21 |
likely pathogenic |
NM_020975.6(RET):c.2304_2307delinsCCTT (p.Glu768Asp) | indel | Multiple endocrine neoplasia, type 2a [RCV003316935] | Chr10:43118392..43118395 [GRCh38] Chr10:43613840..43613843 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.867+4C>G | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV001106953]|Multiple endocrine neoplasia [RCV001104182]|Pheochromocytoma [RCV001104181]|Renal hypodysplasia/aplasia 1 [RCV001104183] | Chr10:43105197 [GRCh38] Chr10:43600645 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2631del (p.Arg878fs) | deletion | Multiple endocrine neoplasia, type 2b [RCV001199205] | Chr10:43120103 [GRCh38] Chr10:43615551 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.398G>C (p.Arg133Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001021593]|Multiple endocrine neoplasia, type 2 [RCV001340144] | Chr10:43102402 [GRCh38] Chr10:43597850 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.*1886T>G | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV001106585]|Multiple endocrine neoplasia [RCV001106586]|Pheochromocytoma [RCV001105444]|Renal hypodysplasia/aplasia 1 [RCV001105443] | Chr10:43130155 [GRCh38] Chr10:43625603 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.430C>T (p.Arg144Cys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001022265]|Multiple endocrine neoplasia, type 2 [RCV002549550] | Chr10:43102434 [GRCh38] Chr10:43597882 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2832C>G (p.Ile944Met) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003117541]|not provided [RCV003884721] | Chr10:43123701 [GRCh38] Chr10:43619149 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1064-9T>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003118330] | Chr10:43109022 [GRCh38] Chr10:43604470 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.868-63G>C | single nucleotide variant | not provided [RCV001566249] | Chr10:43106313 [GRCh38] Chr10:43601761 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2607+136A>G | single nucleotide variant | not provided [RCV001559964] | Chr10:43119881 [GRCh38] Chr10:43615329 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.74-57dup | duplication | not provided [RCV001695506] | Chr10:43100388..43100389 [GRCh38] Chr10:43595836..43595837 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.337+196G>A | single nucleotide variant | not provided [RCV001550180] | Chr10:43100918 [GRCh38] Chr10:43596366 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1064-114G>A | single nucleotide variant | not provided [RCV001572204] | Chr10:43108917 [GRCh38] Chr10:43604365 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2730+322C>T | single nucleotide variant | not provided [RCV001689386] | Chr10:43120525 [GRCh38] Chr10:43615973 [GRCh37] Chr10:10q11.21 |
benign |
NC_000010.11:g.43076732C>A | single nucleotide variant | not provided [RCV001546105] | Chr10:43076732 [GRCh38] Chr10:43572180 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3180A>G (p.Lys1060_Leu1061=) | single nucleotide variant | not provided [RCV001531685] | Chr10:43126715 [GRCh38] Chr10:43622163 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2801+225C>T | single nucleotide variant | not provided [RCV001566270] | Chr10:43122241 [GRCh38] Chr10:43617689 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1760-140C>G | single nucleotide variant | not provided [RCV001644344] | Chr10:43113416 [GRCh38] Chr10:43608864 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.3204C>T (p.Asn1068=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002320186]|Multiple endocrine neoplasia, type 2 [RCV001467228] | Chr10:43128128 [GRCh38] Chr10:43623576 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.414G>A (p.Gln138=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001394061] | Chr10:43102418 [GRCh38] Chr10:43597866 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1008C>T (p.Asn336=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002427265]|Multiple endocrine neoplasia, type 2 [RCV000907254] | Chr10:43106516 [GRCh38] Chr10:43601964 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.57G>C (p.Leu19=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002354789]|Multiple endocrine neoplasia, type 2 [RCV000932423] | Chr10:43077315 [GRCh38] Chr10:43572763 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1753T>C (p.Cys585Arg) | single nucleotide variant | Aganglionic megacolon [RCV000857245] | Chr10:43112957 [GRCh38] Chr10:43608405 [GRCh37] Chr10:10q11.21 |
likely pathogenic |
NM_020975.6(RET):c.2880C>T (p.Leu960=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001430552] | Chr10:43123749 [GRCh38] Chr10:43619197 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2676T>C (p.Asp892=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003372902]|Multiple endocrine neoplasia, type 2 [RCV000874708] | Chr10:43120149 [GRCh38] Chr10:43615597 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1114C>T (p.Leu372=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002434213]|Multiple endocrine neoplasia, type 2 [RCV001426103] | Chr10:43109081 [GRCh38] Chr10:43604529 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1059C>T (p.Asp353=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002400058]|Multiple endocrine neoplasia, type 2 [RCV001406034] | Chr10:43106567 [GRCh38] Chr10:43602015 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2139G>A (p.Glu713=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002256573]|Multiple endocrine neoplasia, type 2 [RCV000870631]|RET-related condition [RCV003948164] | Chr10:43116586 [GRCh38] Chr10:43612034 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1269G>C (p.Gly423=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001485744] | Chr10:43111212 [GRCh38] Chr10:43606660 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.625+9C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000861452]|RET-related condition [RCV003892777] | Chr10:43102638 [GRCh38] Chr10:43598086 [GRCh37] Chr10:10q11.21 |
likely benign|conflicting interpretations of pathogenicity |
NM_020975.6(RET):c.768G>C (p.Val256=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002400133]|Multiple endocrine neoplasia, type 2 [RCV001447989] | Chr10:43105094 [GRCh38] Chr10:43600542 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1146G>A (p.Gln382=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002454051]|Multiple endocrine neoplasia, type 2 [RCV001490918]|not provided [RCV000877606]|not specified [RCV002268346] | Chr10:43109113 [GRCh38] Chr10:43604561 [GRCh37] Chr10:10q11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.1668C>T (p.Ser556=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002400110]|Multiple endocrine neoplasia, type 2 [RCV001413938] | Chr10:43112872 [GRCh38] Chr10:43608320 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1803G>A (p.Gly601=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003307713]|Multiple endocrine neoplasia, type 2 [RCV001468092] | Chr10:43113599 [GRCh38] Chr10:43609047 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.810C>G (p.Pro270=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001457842] | Chr10:43105136 [GRCh38] Chr10:43600584 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2430C>G (p.Gly810=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002454177]|Multiple endocrine neoplasia, type 2 [RCV000946396] | Chr10:43119568 [GRCh38] Chr10:43615016 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1596C>A (p.Gly532=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV000931435] | Chr10:43112172 [GRCh38] Chr10:43607620 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.543C>G (p.Pro181=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003279159]|Multiple endocrine neoplasia, type 2 [RCV001436367] | Chr10:43102547 [GRCh38] Chr10:43597995 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.723C>T (p.Ala241=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002372563]|Hirschsprung disease, susceptibility to, 1 [RCV002487995]|Multiple endocrine neoplasia, type 2 [RCV000922069] | Chr10:43105049 [GRCh38] Chr10:43600497 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2623T>C (p.Leu875=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002427297]|Multiple endocrine neoplasia, type 2 [RCV000926924] | Chr10:43120096 [GRCh38] Chr10:43615544 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.873C>T (p.Thr291=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002372481]|Multiple endocrine neoplasia, type 2 [RCV000874137] | Chr10:43106381 [GRCh38] Chr10:43601829 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1584T>C (p.Cys528=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001415405] | Chr10:43112160 [GRCh38] Chr10:43607608 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1183G>A (p.Val395Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002339346]|Multiple endocrine neoplasia, type 2 [RCV001070874] | Chr10:43109150 [GRCh38] Chr10:43604598 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.857A>C (p.Lys286Thr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001071048] | Chr10:43105183 [GRCh38] Chr10:43600631 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3285A>G (p.Val1095=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002447066]|Multiple endocrine neoplasia, type 2 [RCV001207466]|not provided [RCV003233993] | Chr10:43128209 [GRCh38] Chr10:43623657 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.2419G>T (p.Ala807Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001226178] | Chr10:43119557 [GRCh38] Chr10:43615005 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2617C>A (p.Arg873=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001212563] | Chr10:43120090 [GRCh38] Chr10:43615538 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.650C>T (p.Ala217Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001071229] | Chr10:43104976 [GRCh38] Chr10:43600424 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1511T>C (p.Val504Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002393609]|Multiple endocrine neoplasia, type 2 [RCV001239229] | Chr10:43111454 [GRCh38] Chr10:43606902 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.788A>G (p.Tyr263Cys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001226239] | Chr10:43105114 [GRCh38] Chr10:43600562 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1151del (p.Pro384fs) | deletion | Multiple endocrine neoplasia, type 2 [RCV001244607] | Chr10:43109116 [GRCh38] Chr10:43604564 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.3187+5A>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001219026] | Chr10:43126727 [GRCh38] Chr10:43622175 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.677G>C (p.Arg226Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002366071]|Hirschsprung disease, susceptibility to, 1 [RCV002480816]|Hirschsprung disease, susceptibility to, 1 [RCV003469464]|Multiple endocrine neoplasia, type 2 [RCV001243116] | Chr10:43105003 [GRCh38] Chr10:43600451 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3044A>G (p.Tyr1015Cys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002447226]|Hirschsprung disease, susceptibility to, 1 [RCV002491843]|Multiple endocrine neoplasia, type 2 [RCV001247745]|RET-related condition [RCV003405453] | Chr10:43126579 [GRCh38] Chr10:43622027 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1203C>A (p.Ser401Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002348671]|Multiple endocrine neoplasia, type 2 [RCV001205511] | Chr10:43109170 [GRCh38] Chr10:43604618 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.60_65del (p.Leu21_Leu22del) | deletion | Multiple endocrine neoplasia, type 2 [RCV001216837] | Chr10:43077318..43077323 [GRCh38] Chr10:43572766..43572771 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.59C>G (p.Pro20Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002357026]|Multiple endocrine neoplasia, type 2 [RCV001240317] | Chr10:43077317 [GRCh38] Chr10:43572765 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2867C>T (p.Pro956Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002436566]|Multiple endocrine neoplasia, type 2 [RCV001044151] | Chr10:43123736 [GRCh38] Chr10:43619184 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2392+7C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001213763] | Chr10:43118487 [GRCh38] Chr10:43613935 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3026T>A (p.Met1009Lys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001243895] | Chr10:43124969 [GRCh38] Chr10:43620417 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.*1533A>G | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV001108601]|Multiple endocrine neoplasia [RCV001103422]|Pheochromocytoma [RCV001108600]|Renal hypodysplasia/aplasia 1 [RCV001103423] | Chr10:43129802 [GRCh38] Chr10:43625250 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1711G>A (p.Asp571Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002402700]|Multiple endocrine neoplasia, type 2 [RCV001224329] | Chr10:43112915 [GRCh38] Chr10:43608363 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.484C>A (p.Pro162Thr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001044814] | Chr10:43102488 [GRCh38] Chr10:43597936 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3140C>T (p.Pro1047Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002322057]|Hirschsprung disease, susceptibility to, 1 [RCV002484179]|Multiple endocrine neoplasia, type 2 [RCV001217322] | Chr10:43126675 [GRCh38] Chr10:43622123 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.750C>T (p.Arg250=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002393470]|Hirschsprung disease, susceptibility to, 1 [RCV002480689]|Multiple endocrine neoplasia, type 2 [RCV001209376]|RET-related condition [RCV003892165] | Chr10:43105076 [GRCh38] Chr10:43600524 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.742G>A (p.Gly248Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002379894]|Multiple endocrine neoplasia, type 2 [RCV001234495]|not specified [RCV002246222] | Chr10:43105068 [GRCh38] Chr10:43600516 [GRCh37] Chr10:10q11.21 |
benign|uncertain significance |
NM_020975.6(RET):c.2236C>G (p.Leu746Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001209606] | Chr10:43116683 [GRCh38] Chr10:43612131 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NC_000010.11:g.(?_43077064)_(43077341_?)dup | duplication | Multiple endocrine neoplasia, type 2 [RCV001031196] | Chr10:43572512..43572789 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3233C>G (p.Thr1078Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001019343]|Multiple endocrine neoplasia, type 2 [RCV002549503] | Chr10:43128157 [GRCh38] Chr10:43623605 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.952C>G (p.Leu318Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001019464] | Chr10:43106460 [GRCh38] Chr10:43601908 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3304T>C (p.Ser1102Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001019824]|Multiple endocrine neoplasia, type 2 [RCV001240737] | Chr10:43128228 [GRCh38] Chr10:43623676 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.997C>T (p.His333Tyr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001019953]|Multiple endocrine neoplasia, type 2 [RCV003532350] | Chr10:43106505 [GRCh38] Chr10:43601953 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2285-10T>C | single nucleotide variant | not provided [RCV000911126] | Chr10:43118363 [GRCh38] Chr10:43613811 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.138C>T (p.Ala46=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002390899]|Hirschsprung disease, susceptibility to, 1 [RCV002479059]|Multiple endocrine neoplasia, type 2 [RCV001411320] | Chr10:43100523 [GRCh38] Chr10:43595971 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.238C>T (p.Leu80=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003532323] | Chr10:43100623 [GRCh38] Chr10:43596071 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.288C>T (p.Tyr96=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002434246]|Multiple endocrine neoplasia, type 2 [RCV001454702] | Chr10:43100673 [GRCh38] Chr10:43596121 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.626-72_626-71del | deletion | not provided [RCV001530591] | Chr10:43104877..43104878 [GRCh38] Chr10:43600325..43600326 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.2137-324A>G | single nucleotide variant | not provided [RCV001677432] | Chr10:43116260 [GRCh38] Chr10:43611708 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.2939+258G>A | single nucleotide variant | not provided [RCV001558059] | Chr10:43124066 [GRCh38] Chr10:43619514 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.74-50G>T | single nucleotide variant | Multiple endocrine neoplasia, type 2a [RCV000988340] | Chr10:43100409 [GRCh38] Chr10:43595857 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.2592T>C (p.Tyr864=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002427440]|Multiple endocrine neoplasia, type 2a [RCV000988347] | Chr10:43119730 [GRCh38] Chr10:43615178 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2608-117G>T | single nucleotide variant | not provided [RCV001558417] | Chr10:43119964 [GRCh38] Chr10:43615412 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.626-189_626-180del | deletion | not provided [RCV001586876] | Chr10:43104763..43104772 [GRCh38] Chr10:43600211..43600220 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.626-2dup | duplication | not provided [RCV000994376] | Chr10:43104949..43104950 [GRCh38] Chr10:43600397..43600398 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NC_000010.11:g.43076978C>T | single nucleotide variant | not provided [RCV001558610] | Chr10:43076978 [GRCh38] Chr10:43572426 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2437C>G (p.Arg813Gly) | single nucleotide variant | not provided [RCV003108268] | Chr10:43119575 [GRCh38] Chr10:43615023 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1759+242G>A | single nucleotide variant | not provided [RCV001641156] | Chr10:43113205 [GRCh38] Chr10:43608653 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.73+171_73+172del | deletion | not provided [RCV001717754] | Chr10:43077502..43077503 [GRCh38] Chr10:43572950..43572951 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.337+258G>T | single nucleotide variant | not provided [RCV001596535] | Chr10:43100980 [GRCh38] Chr10:43596428 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.73+9385_73+9395del | deletion | Multiple endocrine neoplasia, type 2 [RCV002072038]|RET-related condition [RCV003940994]|not provided [RCV001550439] | Chr10:43086715..43086725 [GRCh38] Chr10:43582163..43582173 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.2137-1G>A | single nucleotide variant | not provided [RCV001561289] | Chr10:43116583 [GRCh38] Chr10:43612031 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.2939+286A>G | single nucleotide variant | not provided [RCV001576981] | Chr10:43124094 [GRCh38] Chr10:43619542 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.43_51dup (p.Leu19_Pro20insLeuLeuLeu) | duplication | Hereditary cancer-predisposing syndrome [RCV001022248]|Multiple endocrine neoplasia, type 2 [RCV001062924] | Chr10:43077294..43077295 [GRCh38] Chr10:43572742..43572743 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.2482G>A (p.Gly828Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001066251] | Chr10:43119620 [GRCh38] Chr10:43615068 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.11C>T (p.Ala4Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001066496] | Chr10:43077269 [GRCh38] Chr10:43572717 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.-4G>A | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001023397] | Chr10:43077255 [GRCh38] Chr10:43572703 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1063+47G>A | single nucleotide variant | not provided [RCV001608244]|not specified [RCV002465894] | Chr10:43106618 [GRCh38] Chr10:43602066 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.2801+54A>T | single nucleotide variant | not provided [RCV001717755] | Chr10:43122070 [GRCh38] Chr10:43617518 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.343G>A (p.Gly115Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001020312]|Multiple endocrine neoplasia, type 2 [RCV002551826] | Chr10:43102347 [GRCh38] Chr10:43597795 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NC_000010.11:g.43076848G>A | single nucleotide variant | not provided [RCV001655112] | Chr10:43076848 [GRCh38] Chr10:43572296 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.868-75T>C | single nucleotide variant | not provided [RCV001595940] | Chr10:43106301 [GRCh38] Chr10:43601749 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.2940-252G>A | single nucleotide variant | not provided [RCV001637205] | Chr10:43124631 [GRCh38] Chr10:43620079 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.73+9189C>T | single nucleotide variant | not provided [RCV001653030] | Chr10:43086520 [GRCh38] Chr10:43581968 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2608-124G>A | single nucleotide variant | not provided [RCV001661121] | Chr10:43119957 [GRCh38] Chr10:43615405 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.2939+110del | deletion | not provided [RCV001590768] | Chr10:43123913 [GRCh38] Chr10:43619361 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2392+302G>A | single nucleotide variant | not provided [RCV001598263] | Chr10:43118782 [GRCh38] Chr10:43614230 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.2136+271T>C | single nucleotide variant | not provided [RCV001673937] | Chr10:43115007 [GRCh38] Chr10:43610455 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.338-106G>A | single nucleotide variant | not provided [RCV001718361] | Chr10:43102236 [GRCh38] Chr10:43597684 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.2137-253C>T | single nucleotide variant | not provided [RCV001608183] | Chr10:43116331 [GRCh38] Chr10:43611779 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.1690A>T (p.Thr564Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001012762]|Multiple endocrine neoplasia, type 2 [RCV001062237] | Chr10:43112894 [GRCh38] Chr10:43608342 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1726C>A (p.Gln576Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001012907] | Chr10:43112930 [GRCh38] Chr10:43608378 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.*1326T>C | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV001103339]|Multiple endocrine neoplasia [RCV001103338]|Pheochromocytoma [RCV001103340]|Renal hypodysplasia/aplasia 1 [RCV001103337] | Chr10:43129595 [GRCh38] Chr10:43625043 [GRCh37] Chr10:10q11.21 |
benign|likely benign|uncertain significance |
NM_020975.6(RET):c.1768A>G (p.Ile590Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001013082]|Multiple endocrine neoplasia, type 2 [RCV001206268] | Chr10:43113564 [GRCh38] Chr10:43609012 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1326G>T (p.Leu442=) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV001104386]|Multiple endocrine neoplasia [RCV001104385]|Pheochromocytoma [RCV001104387]|Renal hypodysplasia/aplasia 1 [RCV001104384] | Chr10:43111269 [GRCh38] Chr10:43606717 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1900_1901delinsCT (p.Cys634Leu) | indel | Hereditary cancer-predisposing syndrome [RCV001013613]|Multiple endocrine neoplasia, type 2 [RCV003532347] | Chr10:43114500..43114501 [GRCh38] Chr10:43609948..43609949 [GRCh37] Chr10:10q11.21 |
pathogenic|uncertain significance |
NM_020975.6(RET):c.*180G>A | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV001108333]|Multiple endocrine neoplasia [RCV001108330]|Pheochromocytoma [RCV001108331]|Renal hypodysplasia/aplasia 1 [RCV001108332] | Chr10:43128449 [GRCh38] Chr10:43623897 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.804G>A (p.Ser268=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001027107]|Multiple endocrine neoplasia, type 2 [RCV001468037] | Chr10:43105130 [GRCh38] Chr10:43600578 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1194G>A (p.Leu398=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001010174]|Multiple endocrine neoplasia, type 2 [RCV002068821] | Chr10:43109161 [GRCh38] Chr10:43604609 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.-160G>T | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV001103597]|Multiple endocrine neoplasia [RCV001103599]|Pheochromocytoma [RCV001103598]|Renal hypodysplasia/aplasia 1 [RCV001103596]|not provided [RCV003413914] | Chr10:43077099 [GRCh38] Chr10:43572547 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.*1046G>C | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV001105162]|Multiple endocrine neoplasia [RCV001105164]|Pheochromocytoma [RCV001105163]|Renal hypodysplasia/aplasia 1 [RCV001105165]|not provided [RCV002264184] | Chr10:43129315 [GRCh38] Chr10:43624763 [GRCh37] Chr10:10q11.21 |
benign|uncertain significance |
NM_020975.6(RET):c.2062T>C (p.Ser688Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001014215]|Multiple endocrine neoplasia, type 2 [RCV001043452] | Chr10:43114662 [GRCh38] Chr10:43610110 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2060A>G (p.Tyr687Cys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001014276]|Multiple endocrine neoplasia, type 2 [RCV001873254] | Chr10:43114660 [GRCh38] Chr10:43610108 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.*1430A>G | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV001105254]|Multiple endocrine neoplasia [RCV001105256]|Pheochromocytoma [RCV001105255]|Renal hypodysplasia/aplasia 1 [RCV001105257]|not provided [RCV002275285] | Chr10:43129699 [GRCh38] Chr10:43625147 [GRCh37] Chr10:10q11.21 |
benign|likely benign|uncertain significance |
NM_020975.6(RET):c.*159G>T | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV001106120]|Multiple endocrine neoplasia [RCV001106121]|Pheochromocytoma [RCV001106122]|Renal hypodysplasia/aplasia 1 [RCV001106119] | Chr10:43128428 [GRCh38] Chr10:43623876 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.129C>A (p.Asp43Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001010592]|Multiple endocrine neoplasia, type 2 [RCV003532346] | Chr10:43100514 [GRCh38] Chr10:43595962 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2254T>G (p.Tyr752Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001014949] | Chr10:43116701 [GRCh38] Chr10:43612149 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2280G>A (p.Leu760=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001015038] | Chr10:43116727 [GRCh38] Chr10:43612175 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2286G>C (p.Glu762Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001015065]|Hirschsprung disease, susceptibility to, 1 [RCV002481824]|Multiple endocrine neoplasia, type 2 [RCV001054004] | Chr10:43118374 [GRCh38] Chr10:43613822 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1661A>T (p.Asn554Ile) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001065705] | Chr10:43112865 [GRCh38] Chr10:43608313 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.229C>A (p.Arg77Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001015101] | Chr10:43100614 [GRCh38] Chr10:43596062 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2374G>C (p.Gly792Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001015341] | Chr10:43118462 [GRCh38] Chr10:43613910 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2450G>A (p.Arg817His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001015581]|Hirschsprung disease, susceptibility to, 1 [RCV002479211]|Multiple endocrine neoplasia, type 2 [RCV001360335] | Chr10:43119588 [GRCh38] Chr10:43615036 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.*1516C>T | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV001108597]|Multiple endocrine neoplasia [RCV001108598]|Pheochromocytoma [RCV001108599]|Renal hypodysplasia/aplasia 1 [RCV001108596] | Chr10:43129785 [GRCh38] Chr10:43625233 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2464G>A (p.Val822Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001015622]|Multiple endocrine neoplasia, type 2 [RCV001860801] | Chr10:43119602 [GRCh38] Chr10:43615050 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2519A>G (p.His840Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001015829] | Chr10:43119657 [GRCh38] Chr10:43615105 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2802-3C>A | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001016647]|Multiple endocrine neoplasia, type 2 [RCV003645880] | Chr10:43123668 [GRCh38] Chr10:43619116 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1363G>A (p.Val455Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001011134]|Hirschsprung disease, susceptibility to, 1 [RCV002481819]|Multiple endocrine neoplasia, type 2 [RCV001070712] | Chr10:43111306 [GRCh38] Chr10:43606754 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.607G>A (p.Ala203Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001024872]|Multiple endocrine neoplasia, type 2 [RCV001304872] | Chr10:43102611 [GRCh38] Chr10:43598059 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1440A>C (p.Glu480Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001011594]|Multiple endocrine neoplasia, type 2 [RCV002550769] | Chr10:43111383 [GRCh38] Chr10:43606831 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1039G>A (p.Val347Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001017116]|Hirschsprung disease, susceptibility to, 1 [RCV003461357]|Multiple endocrine neoplasia, type 2 [RCV001860854] | Chr10:43106547 [GRCh38] Chr10:43601995 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.*29C>A | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV001104962]|Multiple endocrine neoplasia [RCV001103049]|Pheochromocytoma [RCV001103050]|Renal hypodysplasia/aplasia 1 [RCV001104961]|not specified [RCV003321801] | Chr10:43128298 [GRCh38] Chr10:43623746 [GRCh37] Chr10:10q11.21 |
benign|likely benign|uncertain significance |
NM_020975.6(RET):c.622G>C (p.Glu208Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001025027]|Multiple endocrine neoplasia, type 2 [RCV001350994] | Chr10:43102626 [GRCh38] Chr10:43598074 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1471C>T (p.Gln491Ter) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001011763]|Multiple endocrine neoplasia, type 2 [RCV002549346] | Chr10:43111414 [GRCh38] Chr10:43606862 [GRCh37] Chr10:10q11.21 |
pathogenic|uncertain significance |
NM_020975.6(RET):c.633T>C (p.Gly211=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001025154]|Multiple endocrine neoplasia, type 2 [RCV001449205]|RET-related condition [RCV003962997] | Chr10:43104959 [GRCh38] Chr10:43600407 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1504G>A (p.Val502Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001011938]|Multiple endocrine neoplasia, type 2 [RCV001308463] | Chr10:43111447 [GRCh38] Chr10:43606895 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1504G>C (p.Val502Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001011939]|Multiple endocrine neoplasia, type 2 [RCV001860685] | Chr10:43111447 [GRCh38] Chr10:43606895 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.843C>T (p.Ala281=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001017775]|Multiple endocrine neoplasia, type 2 [RCV001493776] | Chr10:43105169 [GRCh38] Chr10:43600617 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.844G>A (p.Val282Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001017813]|Multiple endocrine neoplasia, type 2 [RCV003532348] | Chr10:43105170 [GRCh38] Chr10:43600618 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.*883G>A | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV001103247]|Multiple endocrine neoplasia [RCV001105161]|Pheochromocytoma [RCV001103246]|Renal hypodysplasia/aplasia 1 [RCV001105160] | Chr10:43129152 [GRCh38] Chr10:43624600 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.-173A>G | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV001103593]|Multiple endocrine neoplasia [RCV001103594]|Pheochromocytoma [RCV001108760]|Renal hypodysplasia/aplasia 1 [RCV001103595] | Chr10:43077086 [GRCh38] Chr10:43572534 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.660C>T (p.Ser220=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001025453]|Multiple endocrine neoplasia, type 2 [RCV001473235] | Chr10:43104986 [GRCh38] Chr10:43600434 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.15G>C (p.Thr5=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001012310]|Multiple endocrine neoplasia, type 2 [RCV001480371] | Chr10:43077273 [GRCh38] Chr10:43572721 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3026T>C (p.Met1009Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001018156]|Hirschsprung disease, susceptibility to, 1 [RCV003467645]|Multiple endocrine neoplasia, type 2 [RCV001218055]|Multiple endocrine neoplasia, type 2a [RCV003325220]|not provided [RCV002261251] | Chr10:43124969 [GRCh38] Chr10:43620417 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3069A>G (p.Pro1023=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001018437]|Multiple endocrine neoplasia, type 2 [RCV003645881] | Chr10:43126604 [GRCh38] Chr10:43622052 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1601T>C (p.Leu534Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002402498]|Hirschsprung disease, susceptibility to, 1 [RCV001102554]|Multiple endocrine neoplasia [RCV001102553]|Multiple endocrine neoplasia, type 2 [RCV003645886]|Pheochromocytoma [RCV001102555]|Renal hypodysplasia/aplasia 1 [RCV001102552] | Chr10:43112177 [GRCh38] Chr10:43607625 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3127T>G (p.Cys1043Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001018743]|Multiple endocrine neoplasia, type 2 [RCV001211781] | Chr10:43126662 [GRCh38] Chr10:43622110 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.312C>A (p.Ser104Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001018748]|Multiple endocrine neoplasia, type 2 [RCV003532349] | Chr10:43100697 [GRCh38] Chr10:43596145 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3148C>G (p.Arg1050Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001018808]|Multiple endocrine neoplasia, type 2 [RCV001040336]|RET-related condition [RCV003413807]|not specified [RCV001195396] | Chr10:43126683 [GRCh38] Chr10:43622131 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3139C>T (p.Pro1047Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002320227]|Multiple endocrine neoplasia, type 2 [RCV001035018] | Chr10:43126674 [GRCh38] Chr10:43622122 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1648+188G>A | single nucleotide variant | not provided [RCV001644372] | Chr10:43112412 [GRCh38] Chr10:43607860 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.2731-290A>G | single nucleotide variant | not provided [RCV001667052] | Chr10:43121656 [GRCh38] Chr10:43617104 [GRCh37] Chr10:10q11.21 |
benign |
NC_000010.11:g.(?_43077064)_(43128277_?)dup | duplication | Multiple endocrine neoplasia, type 2 [RCV001032986] | Chr10:43572512..43623725 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1426C>A (p.Pro476Thr) | single nucleotide variant | Appendicitis [RCV001533538] | Chr10:43111369 [GRCh38] Chr10:43606817 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1403A>G (p.Asn468Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001047723] | Chr10:43111346 [GRCh38] Chr10:43606794 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1406A>T (p.Asp469Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001047734] | Chr10:43111349 [GRCh38] Chr10:43606797 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2662A>G (p.Met888Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002451192]|Multiple endocrine neoplasia, type 2 [RCV001047838]|RET-related condition [RCV003393806]|not provided [RCV001759772] | Chr10:43120135 [GRCh38] Chr10:43615583 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1811C>T (p.Ala604Val) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV002482131]|Multiple endocrine neoplasia, type 2 [RCV001069638]|RET-related condition [RCV003396723] | Chr10:43113607 [GRCh38] Chr10:43609055 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.542C>T (p.Pro181Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001024092] | Chr10:43102546 [GRCh38] Chr10:43597994 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.892G>A (p.Val298Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003372981]|Multiple endocrine neoplasia, type 2 [RCV001069704] | Chr10:43106400 [GRCh38] Chr10:43601848 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2393-94C>A | single nucleotide variant | not provided [RCV001652544] | Chr10:43119437 [GRCh38] Chr10:43614885 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.3187+198T>A | single nucleotide variant | not provided [RCV001614710] | Chr10:43126920 [GRCh38] Chr10:43622368 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.74-58_74-57dup | duplication | not provided [RCV001539252] | Chr10:43100388..43100389 [GRCh38] Chr10:43595836..43595837 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.978G>C (p.Gln326His) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001067650] | Chr10:43106486 [GRCh38] Chr10:43601934 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.338-174_338-162del | deletion | not provided [RCV001665362] | Chr10:43102161..43102173 [GRCh38] Chr10:43597609..43597621 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1263+272A>G | single nucleotide variant | not provided [RCV001691867] | Chr10:43109502 [GRCh38] Chr10:43604950 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.2136+182G>A | single nucleotide variant | not provided [RCV001613755] | Chr10:43114918 [GRCh38] Chr10:43610366 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.824_825delinsTT (p.Gly275Val) | indel | Hereditary cancer-predisposing syndrome [RCV003365278]|Multiple endocrine neoplasia, type 2 [RCV001235594] | Chr10:43105150..43105151 [GRCh38] Chr10:43600598..43600599 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2392+6G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001060018] | Chr10:43118486 [GRCh38] Chr10:43613934 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1917A>G (p.Ala639=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001013690] | Chr10:43114517 [GRCh38] Chr10:43609965 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.812C>T (p.Thr271Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001027202]|Multiple endocrine neoplasia, type 2 [RCV001862404] | Chr10:43105138 [GRCh38] Chr10:43600586 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2313C>G (p.Asp771Glu) | single nucleotide variant | Multiple endocrine neoplasia, type 2b [RCV001196508] | Chr10:43118401 [GRCh38] Chr10:43613849 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.970T>G (p.Trp324Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002375195]|Multiple endocrine neoplasia, type 2 [RCV001218751] | Chr10:43106478 [GRCh38] Chr10:43601926 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.178C>T (p.Pro60Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002411620]|Hirschsprung disease, susceptibility to, 1 [RCV002489713]|Hirschsprung disease, susceptibility to, 1 [RCV003462620]|Multiple endocrine neoplasia, type 2 [RCV001071199] | Chr10:43100563 [GRCh38] Chr10:43596011 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2294C>T (p.Ser765Phe) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002445281]|Multiple endocrine neoplasia, type 2 [RCV001052687] | Chr10:43118382 [GRCh38] Chr10:43613830 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1648+4A>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001052691] | Chr10:43112228 [GRCh38] Chr10:43607676 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.733G>A (p.Val245Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003160453]|Multiple endocrine neoplasia, type 2 [RCV001056109]|Ovarian cancer [RCV003153912] | Chr10:43105059 [GRCh38] Chr10:43600507 [GRCh37] Chr10:10q11.21 |
benign|uncertain significance |
NM_020975.6(RET):c.2980A>G (p.Lys994Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002436971]|Multiple endocrine neoplasia, type 2 [RCV001247508] | Chr10:43124923 [GRCh38] Chr10:43620371 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.960C>A (p.Pro320=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002256697]|Hirschsprung disease, susceptibility to, 1 [RCV002484114]|Multiple endocrine neoplasia, type 2 [RCV001206433] | Chr10:43106468 [GRCh38] Chr10:43601916 [GRCh37] Chr10:10q11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.2550C>G (p.Asp850Glu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001206439] | Chr10:43119688 [GRCh38] Chr10:43615136 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1043G>A (p.Arg348Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003372984]|Multiple endocrine neoplasia, type 2 [RCV001071531] | Chr10:43106551 [GRCh38] Chr10:43601999 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1759C>G (p.Arg587Gly) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001056365] | Chr10:43112963 [GRCh38] Chr10:43608411 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3192G>A (p.Met1064Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002445297]|Hirschsprung disease, susceptibility to, 1 [RCV002482014]|Multiple endocrine neoplasia, type 2 [RCV001056445]|not provided [RCV003238833] | Chr10:43128116 [GRCh38] Chr10:43623564 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.29G>T (p.Gly10Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001205118] | Chr10:43077287 [GRCh38] Chr10:43572735 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2088G>T (p.Ser696=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001014388]|Multiple endocrine neoplasia, type 2 [RCV001487630] | Chr10:43114688 [GRCh38] Chr10:43610136 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2169C>T (p.Asn723=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001014627] | Chr10:43116616 [GRCh38] Chr10:43612064 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.516C>T (p.Pro172=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001023651]|Multiple endocrine neoplasia, type 2 [RCV002067665] | Chr10:43102520 [GRCh38] Chr10:43597968 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1450A>C (p.Met484Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001247478] | Chr10:43111393 [GRCh38] Chr10:43606841 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2309G>C (p.Arg770Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003160462]|Multiple endocrine neoplasia, type 2 [RCV001057322] | Chr10:43118397 [GRCh38] Chr10:43613845 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1522T>C (p.Tyr508His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002393301]|Multiple endocrine neoplasia, type 2 [RCV001061306]|not provided [RCV003442186] | Chr10:43111465 [GRCh38] Chr10:43606913 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1880-5C>A | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002411629]|Hirschsprung disease, susceptibility to, 1 [RCV001107889]|Multiple endocrine neoplasia [RCV001107890]|Pheochromocytoma [RCV001102656]|Renal hypodysplasia/aplasia 1 [RCV001102655] | Chr10:43114475 [GRCh38] Chr10:43609923 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2393G>A (p.Gly798Asp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001053402] | Chr10:43119531 [GRCh38] Chr10:43614979 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.*492G>C | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV001105065]|Multiple endocrine neoplasia [RCV001103155]|Pheochromocytoma [RCV001105064]|Renal hypodysplasia/aplasia 1 [RCV001103154] | Chr10:43128761 [GRCh38] Chr10:43624209 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.1220C>T (p.Thr407Ile) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001236989] | Chr10:43109187 [GRCh38] Chr10:43604635 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1062T>C (p.Tyr354=) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV001107616]|Multiple endocrine neoplasia [RCV001103995]|Multiple endocrine neoplasia, type 2 [RCV001053723]|Pheochromocytoma [RCV001107615]|Renal hypodysplasia/aplasia 1 [RCV001107617] | Chr10:43106570 [GRCh38] Chr10:43602018 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1294_1296delinsACG (p.Ala432Thr) | indel | Hereditary cancer-predisposing syndrome [RCV001010804] | Chr10:43111237..43111239 [GRCh38] Chr10:43606685..43606687 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.553T>G (p.Phe185Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001024249] | Chr10:43102557 [GRCh38] Chr10:43598005 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.*1812C>A | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV001105441]|Multiple endocrine neoplasia [RCV001105442]|Pheochromocytoma [RCV001103515]|Renal hypodysplasia/aplasia 1 [RCV001103516] | Chr10:43130081 [GRCh38] Chr10:43625529 [GRCh37] Chr10:10q11.21 |
benign|likely benign|uncertain significance |
NM_020975.6(RET):c.1963T>G (p.Phe655Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001216697] | Chr10:43114563 [GRCh38] Chr10:43610011 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1886T>C (p.Leu629Pro) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001247944] | Chr10:43114486 [GRCh38] Chr10:43609934 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.936_939del (p.Arg312fs) | deletion | Multiple endocrine neoplasia, type 2 [RCV001237306] | Chr10:43106443..43106446 [GRCh38] Chr10:43601891..43601894 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.1340C>A (p.Ala447Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001010947]|Multiple endocrine neoplasia, type 2 [RCV002549333] | Chr10:43111283 [GRCh38] Chr10:43606731 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1356A>G (p.Leu452=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001011149] | Chr10:43111299 [GRCh38] Chr10:43606747 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1118C>A (p.Ala373Glu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001205795] | Chr10:43109085 [GRCh38] Chr10:43604533 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2980A>C (p.Lys994Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002436916]|Multiple endocrine neoplasia, type 2 [RCV001234175] | Chr10:43124923 [GRCh38] Chr10:43620371 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2297C>T (p.Pro766Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002451436]|Hirschsprung disease, susceptibility to, 1 [RCV003469333]|Multiple endocrine neoplasia, type 2 [RCV001205882] | Chr10:43118385 [GRCh38] Chr10:43613833 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1345T>C (p.Cys449Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002379486]|Multiple endocrine neoplasia, type 2 [RCV001037480] | Chr10:43111288 [GRCh38] Chr10:43606736 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1453G>A (p.Val485Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002393591]|Multiple endocrine neoplasia, type 2 [RCV001234305] | Chr10:43111396 [GRCh38] Chr10:43606844 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1780C>T (p.His594Tyr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001206841] | Chr10:43113576 [GRCh38] Chr10:43609024 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2105A>G (p.Asn702Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002416344]|Multiple endocrine neoplasia, type 2 [RCV001040261] | Chr10:43114705 [GRCh38] Chr10:43610153 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3038G>C (p.Arg1013Thr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001054586] | Chr10:43124981 [GRCh38] Chr10:43620429 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.143C>T (p.Thr48Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001011585]|Multiple endocrine neoplasia, type 2 [RCV001069718]|Multiple endocrine neoplasia, type 2a [RCV003447573] | Chr10:43100528 [GRCh38] Chr10:43595976 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.618C>G (p.Leu206=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001024984] | Chr10:43102622 [GRCh38] Chr10:43598070 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.722C>T (p.Ala241Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001235262] | Chr10:43105048 [GRCh38] Chr10:43600496 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1030G>A (p.Gly344Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002379500]|Hirschsprung disease, susceptibility to, 1 [RCV003467724]|Multiple endocrine neoplasia, type 2 [RCV001040633] | Chr10:43106538 [GRCh38] Chr10:43601986 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.666G>A (p.Glu222=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001025514]|Multiple endocrine neoplasia, type 2 [RCV001496170] | Chr10:43104992 [GRCh38] Chr10:43600440 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1619G>A (p.Arg540Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001012453] | Chr10:43112195 [GRCh38] Chr10:43607643 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3315G>A (p.Ala1105=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002451459]|Multiple endocrine neoplasia, type 2 [RCV001211085] | Chr10:43128239 [GRCh38] Chr10:43623687 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1064-6C>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001041016] | Chr10:43109025 [GRCh38] Chr10:43604473 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.-51C>T | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV001106683]|Multiple endocrine neoplasia [RCV001105541]|Pheochromocytoma [RCV001106682]|Renal hypodysplasia/aplasia 1 [RCV001106684] | Chr10:43077208 [GRCh38] Chr10:43572656 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1843G>A (p.Glu615Lys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001207229] | Chr10:43113639 [GRCh38] Chr10:43609087 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2200G>A (p.Glu734Lys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001219611] | Chr10:43116647 [GRCh38] Chr10:43612095 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.748C>T (p.Arg250Cys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001026492]|Multiple endocrine neoplasia, type 2 [RCV003532351] | Chr10:43105074 [GRCh38] Chr10:43600522 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1761G>T (p.Arg587=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001013071] | Chr10:43113557 [GRCh38] Chr10:43609005 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1385C>T (p.Ser462Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002393566]|Hirschsprung disease, susceptibility to, 1 [RCV002497777]|Multiple endocrine neoplasia, type 2 [RCV001228900]|Ovarian cancer [RCV003153952] | Chr10:43111328 [GRCh38] Chr10:43606776 [GRCh37] Chr10:10q11.21 |
benign|uncertain significance |
NM_020975.6(RET):c.739G>A (p.Ala247Thr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001064034] | Chr10:43105065 [GRCh38] Chr10:43600513 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.931G>A (p.Val311Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001019168]|Multiple endocrine neoplasia, type 2 [RCV002549499] | Chr10:43106439 [GRCh38] Chr10:43601887 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1914C>T (p.Ile638=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001013679]|Multiple endocrine neoplasia, type 2 [RCV001493439]|RET-related condition [RCV003962991] | Chr10:43114514 [GRCh38] Chr10:43609962 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1285A>T (p.Asn429Tyr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001039854] | Chr10:43111228 [GRCh38] Chr10:43606676 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1407C>G (p.Asp469Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002393314]|Multiple endocrine neoplasia, type 2 [RCV001064160] | Chr10:43111350 [GRCh38] Chr10:43606798 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2003C>T (p.Pro668Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001014060]|Hirschsprung disease, susceptibility to, 1 [RCV003461336]|Multiple endocrine neoplasia, type 2 [RCV002549401] | Chr10:43114603 [GRCh38] Chr10:43610051 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.817C>G (p.Pro273Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001027250] | Chr10:43105143 [GRCh38] Chr10:43600591 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.*1112A>G | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV001106290]|Multiple endocrine neoplasia [RCV001106292]|Pheochromocytoma [RCV001106293]|Renal hypodysplasia/aplasia 1 [RCV001106291] | Chr10:43129381 [GRCh38] Chr10:43624829 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.307C>T (p.His103Tyr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002319675]|Multiple endocrine neoplasia, type 2 [RCV001211530] | Chr10:43100692 [GRCh38] Chr10:43596140 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.204G>A (p.Leu68=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001014197]|Multiple endocrine neoplasia, type 2 [RCV002549403] | Chr10:43100589 [GRCh38] Chr10:43596037 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2051C>T (p.Pro684Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001014208]|Multiple endocrine neoplasia, type 2 [RCV001362263] | Chr10:43114651 [GRCh38] Chr10:43610099 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.*1900C>A | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV001106590]|Multiple endocrine neoplasia [RCV001106588]|Pheochromocytoma [RCV001106587]|Renal hypodysplasia/aplasia 1 [RCV001106589] | Chr10:43130169 [GRCh38] Chr10:43625617 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1057G>T (p.Asp353Tyr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001040385] | Chr10:43106565 [GRCh38] Chr10:43602013 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.551C>T (p.Thr184Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002348771]|Multiple endocrine neoplasia, type 2 [RCV001229092] | Chr10:43102555 [GRCh38] Chr10:43598003 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2234A>G (p.His745Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001014895]|Multiple endocrine neoplasia, type 2 [RCV001053447] | Chr10:43116681 [GRCh38] Chr10:43612129 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.2343G>A (p.Gln781=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001015239]|Multiple endocrine neoplasia, type 2 [RCV002068902] | Chr10:43118431 [GRCh38] Chr10:43613879 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.938G>T (p.Arg313Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001055064]|not specified [RCV002249661] | Chr10:43106446 [GRCh38] Chr10:43601894 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2365A>C (p.Lys789Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001015295] | Chr10:43118453 [GRCh38] Chr10:43613901 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2451C>T (p.Arg817=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001015586]|Multiple endocrine neoplasia, type 2 [RCV001069907] | Chr10:43119589 [GRCh38] Chr10:43615037 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.2478C>T (p.Tyr826=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001015659]|Multiple endocrine neoplasia, type 2 [RCV001418969] | Chr10:43119616 [GRCh38] Chr10:43615064 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2561T>C (p.Phe854Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002429903]|Multiple endocrine neoplasia, type 2 [RCV001212918]|Multiple endocrine neoplasia, type 2b [RCV003315447] | Chr10:43119699 [GRCh38] Chr10:43615147 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2188C>G (p.Leu730Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001213228] | Chr10:43116635 [GRCh38] Chr10:43612083 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1249C>G (p.Arg417Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001010560]|Multiple endocrine neoplasia, type 2 [RCV001040897] | Chr10:43109216 [GRCh38] Chr10:43604664 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2551C>T (p.Leu851Phe) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001015907]|Multiple endocrine neoplasia, type 2 [RCV001071392] | Chr10:43119689 [GRCh38] Chr10:43615137 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2638A>G (p.Ile880Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001016157] | Chr10:43120111 [GRCh38] Chr10:43615559 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3031A>G (p.Lys1011Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002436972]|Hirschsprung disease, susceptibility to, 1 [RCV002491845]|Multiple endocrine neoplasia, type 2 [RCV001247959] | Chr10:43124974 [GRCh38] Chr10:43620422 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.273C>T (p.Asp91=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001016454]|Multiple endocrine neoplasia, type 2 [RCV001447171] | Chr10:43100658 [GRCh38] Chr10:43596106 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1562T>C (p.Val521Ala) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001205005] | Chr10:43112138 [GRCh38] Chr10:43607586 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1427C>T (p.Pro476Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001205035] | Chr10:43111370 [GRCh38] Chr10:43606818 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2284+3A>G | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003373026]|Multiple endocrine neoplasia, type 2 [RCV001205038] | Chr10:43116734 [GRCh38] Chr10:43612182 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1021C>G (p.Gln341Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001017030]|Multiple endocrine neoplasia, type 2 [RCV001051706] | Chr10:43106529 [GRCh38] Chr10:43601977 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1039G>C (p.Val347Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001017119]|not provided [RCV003238828] | Chr10:43106547 [GRCh38] Chr10:43601995 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1519T>A (p.Ser507Thr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001216176] | Chr10:43111462 [GRCh38] Chr10:43606910 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.842C>G (p.Ala281Gly) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001216177] | Chr10:43105168 [GRCh38] Chr10:43600616 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1984A>G (p.Lys662Glu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001204011] | Chr10:43114584 [GRCh38] Chr10:43610032 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.136G>T (p.Ala46Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001011183] | Chr10:43100521 [GRCh38] Chr10:43595969 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1372G>T (p.Ala458Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001011241] | Chr10:43111315 [GRCh38] Chr10:43606763 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1130A>G (p.Asn377Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001017398]|Multiple endocrine neoplasia, type 2 [RCV002549453] | Chr10:43109097 [GRCh38] Chr10:43604545 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1141T>C (p.Phe381Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001017444]|Multiple endocrine neoplasia, type 2 [RCV001062743]|Multiple endocrine neoplasia, type 2a [RCV003328101]|not provided [RCV003132142] | Chr10:43109108 [GRCh38] Chr10:43604556 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.294C>T (p.Asn98=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001017629]|Multiple endocrine neoplasia, type 2 [RCV002068953] | Chr10:43100679 [GRCh38] Chr10:43596127 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1460C>G (p.Ala487Gly) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001211017] | Chr10:43111403 [GRCh38] Chr10:43606851 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1407C>T (p.Asp469=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001011415]|Multiple endocrine neoplasia, type 2 [RCV001467677] | Chr10:43111350 [GRCh38] Chr10:43606798 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2987C>T (p.Pro996Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001017799]|Multiple endocrine neoplasia, type 2 [RCV001299872] | Chr10:43124930 [GRCh38] Chr10:43620378 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.849G>A (p.Val283=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001017914]|Multiple endocrine neoplasia, type 2 [RCV002550834] | Chr10:43105175 [GRCh38] Chr10:43600623 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.300C>T (p.Ser100=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001018022]|Multiple endocrine neoplasia, type 2 [RCV002068960] | Chr10:43100685 [GRCh38] Chr10:43596133 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2393-5C>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001047950] | Chr10:43119526 [GRCh38] Chr10:43614974 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.40_41insGGTTGC (p.Leu13_Leu14insArgLeu) | insertion | Multiple endocrine neoplasia, type 2 [RCV001214248] | Chr10:43077295..43077296 [GRCh38] Chr10:43572743..43572744 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3033GAG[1] (p.Arg1013del) | microsatellite | Hereditary cancer-predisposing syndrome [RCV002436826]|Multiple endocrine neoplasia, type 2 [RCV001215707] | Chr10:43124976..43124978 [GRCh38] Chr10:43620424..43620426 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2524G>A (p.Asp842Asn) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001215753] | Chr10:43119662 [GRCh38] Chr10:43615110 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.644G>A (p.Arg215His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001025279]|Multiple endocrine neoplasia, type 2 [RCV002552395] | Chr10:43104970 [GRCh38] Chr10:43600418 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.885G>A (p.Thr295=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001018418]|Multiple endocrine neoplasia, type 2 [RCV001436543] | Chr10:43106393 [GRCh38] Chr10:43601841 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3078C>T (p.Ser1026=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001018498]|Multiple endocrine neoplasia, type 2 [RCV001395252] | Chr10:43126613 [GRCh38] Chr10:43622061 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.890G>A (p.Arg297His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001018506]|Hirschsprung disease, susceptibility to, 1 [RCV002489523]|Multiple endocrine neoplasia, type 2 [RCV001344857] | Chr10:43106398 [GRCh38] Chr10:43601846 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3188-3del | deletion | Multiple endocrine neoplasia, type 2 [RCV001211952] | Chr10:43128105 [GRCh38] Chr10:43623553 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2771T>A (p.Phe924Tyr) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV003462594]|Multiple endocrine neoplasia, type 2 [RCV001063040] | Chr10:43121986 [GRCh38] Chr10:43617434 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1568A>G (p.Lys523Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001012171]|Multiple endocrine neoplasia, type 2 [RCV002549359] | Chr10:43112144 [GRCh38] Chr10:43607592 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3141C>A (p.Pro1047=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001018790]|Multiple endocrine neoplasia, type 2 [RCV002549485] | Chr10:43126676 [GRCh38] Chr10:43622124 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1661A>G (p.Asn554Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001012562] | Chr10:43112865 [GRCh38] Chr10:43608313 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1684A>C (p.Thr562Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001012719]|Multiple endocrine neoplasia, type 2 [RCV001862791] | Chr10:43112888 [GRCh38] Chr10:43608336 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2443T>C (p.Phe815Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001215544] | Chr10:43119581 [GRCh38] Chr10:43615029 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.646T>C (p.Cys216Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001063578] | Chr10:43104972 [GRCh38] Chr10:43600420 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1717G>A (p.Val573Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001012856]|Multiple endocrine neoplasia, type 2 [RCV001071883]|not provided [RCV003480903] | Chr10:43112921 [GRCh38] Chr10:43608369 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1725C>G (p.Thr575=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001012904]|Multiple endocrine neoplasia, type 2 [RCV003106094] | Chr10:43112929 [GRCh38] Chr10:43608377 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1759C>T (p.Arg587Trp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001013052]|Multiple endocrine neoplasia, type 2 [RCV001321545] | Chr10:43112963 [GRCh38] Chr10:43608411 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1773T>C (p.Val591=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001013066]|Multiple endocrine neoplasia, type 2 [RCV001476090] | Chr10:43113569 [GRCh38] Chr10:43609017 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.*500C>G | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV001105069]|Multiple endocrine neoplasia [RCV001105068]|Pheochromocytoma [RCV001105066]|Renal hypodysplasia/aplasia 1 [RCV001105067] | Chr10:43128769 [GRCh38] Chr10:43624217 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1409C>T (p.Thr470Ile) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001053492] | Chr10:43111352 [GRCh38] Chr10:43606800 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1893_1898del (p.Asp631_Leu633delinsGlu) | deletion | Multiple endocrine neoplasia, type 2b [RCV001267832] | Chr10:43114493..43114498 [GRCh38] Chr10:43609941..43609946 [GRCh37] Chr10:10q11.21 |
likely pathogenic |
NM_020975.6(RET):c.2481G>A (p.Leu827=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001304557] | Chr10:43119619 [GRCh38] Chr10:43615067 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3173A>G (p.Glu1058Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002322295]|Multiple endocrine neoplasia, type 2 [RCV001348294] | Chr10:43126708 [GRCh38] Chr10:43622156 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.824G>C (p.Gly275Ala) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001303022] | Chr10:43105150 [GRCh38] Chr10:43600598 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.324G>C (p.Lys108Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003166716]|Multiple endocrine neoplasia, type 2 [RCV001303789] | Chr10:43100709 [GRCh38] Chr10:43596157 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.870C>G (p.Asp290Glu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001889117] | Chr10:43106378 [GRCh38] Chr10:43601826 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.199C>G (p.Arg67Gly) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV001292753] | Chr10:43100584 [GRCh38] Chr10:43596032 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2164A>G (p.Lys722Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002431987]|Hirschsprung disease, susceptibility to, 1 [RCV003469583]|Multiple endocrine neoplasia, type 2 [RCV001349402] | Chr10:43116611 [GRCh38] Chr10:43612059 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1996A>C (p.Lys666Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002420753]|Multiple endocrine neoplasia, type 2 [RCV001349419] | Chr10:43114596 [GRCh38] Chr10:43610044 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3222dup (p.Val1075fs) | duplication | Multiple endocrine neoplasia, type 2 [RCV001879982]|Multiple endocrine neoplasia, type 2b [RCV001258057] | Chr10:43128145..43128146 [GRCh38] Chr10:43623593..43623594 [GRCh37] Chr10:10q11.21 |
likely pathogenic|uncertain significance |
NM_020975.6(RET):c.565C>T (p.Arg189Cys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002350650]|Hirschsprung disease, susceptibility to, 1 [RCV002493796]|Multiple endocrine neoplasia, type 2 [RCV001349277] | Chr10:43102569 [GRCh38] Chr10:43598017 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3342T>G (p.Ser1114Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001889485] | Chr10:43128266 [GRCh38] Chr10:43623714 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1287C>A (p.Asn429Lys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001341632] | Chr10:43111230 [GRCh38] Chr10:43606678 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3311C>T (p.Ser1104Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001326837] | Chr10:43128235 [GRCh38] Chr10:43623683 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NC_000010.10:g.(?_43572512)_(43623725_?)dup | duplication | Multiple endocrine neoplasia, type 2 [RCV001316560] | Chr10:43572512..43623725 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3337G>A (p.Asp1113Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002322237]|Multiple endocrine neoplasia, type 2 [RCV001319033] | Chr10:43128261 [GRCh38] Chr10:43623709 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.422G>C (p.Gly141Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002327641]|Multiple endocrine neoplasia, type 2 [RCV001298652] | Chr10:43102426 [GRCh38] Chr10:43597874 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1639G>A (p.Asp547Asn) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001298666] | Chr10:43112215 [GRCh38] Chr10:43607663 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1046C>G (p.Ala349Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002402888]|Multiple endocrine neoplasia, type 2 [RCV001319210] | Chr10:43106554 [GRCh38] Chr10:43602002 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3148C>T (p.Arg1050Ter) | single nucleotide variant | Appendicitis [RCV001289999]|not provided [RCV001819981] | Chr10:43126683 [GRCh38] Chr10:43622131 [GRCh37] Chr10:10q11.21 |
likely pathogenic|uncertain significance |
NM_020975.6(RET):c.2604G>A (p.Met868Ile) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001299149] | Chr10:43119742 [GRCh38] Chr10:43615190 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3277G>A (p.Asp1093Asn) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001295799] | Chr10:43128201 [GRCh38] Chr10:43623649 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1828A>C (p.Asn610His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002411977]|Hirschsprung disease, susceptibility to, 1 [RCV001535690]|Hirschsprung disease, susceptibility to, 1 [RCV001824949]|Multiple endocrine neoplasia, type 2 [RCV001305413] | Chr10:43113624 [GRCh38] Chr10:43609072 [GRCh37] Chr10:10q11.21 |
uncertain significance|not provided |
NM_020975.6(RET):c.1310A>G (p.Asn437Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001341732] | Chr10:43111253 [GRCh38] Chr10:43606701 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.29G>A (p.Gly10Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002438769]|Multiple endocrine neoplasia, type 2 [RCV001338708] | Chr10:43077287 [GRCh38] Chr10:43572735 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1942G>T (p.Val648Phe) | single nucleotide variant | Familial medullary thyroid carcinoma [RCV001292634]|Multiple endocrine neoplasia, type 2 [RCV001863171]|not provided [RCV003223715] | Chr10:43114542 [GRCh38] Chr10:43609990 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3305C>T (p.Ser1102Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001301643] | Chr10:43128229 [GRCh38] Chr10:43623677 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3196G>A (p.Asp1066Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002322285]|Multiple endocrine neoplasia, type 2 [RCV001343022] | Chr10:43128120 [GRCh38] Chr10:43623568 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1594G>A (p.Gly532Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001343208] | Chr10:43112170 [GRCh38] Chr10:43607618 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2728C>G (p.Gln910Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002430115]|Multiple endocrine neoplasia, type 2 [RCV001306513] | Chr10:43120201 [GRCh38] Chr10:43615649 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1865_1866delinsTT (p.Pro622Leu) | indel | Multiple endocrine neoplasia, type 2 [RCV001313360] | Chr10:43113661..43113662 [GRCh38] Chr10:43609109..43609110 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1467C>G (p.Asp489Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002393699]|Multiple endocrine neoplasia, type 2 [RCV001297345] | Chr10:43111410 [GRCh38] Chr10:43606858 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.99_100del (p.Asp34fs) | deletion | Colorectal cancer [RCV001293844] | Chr10:43100483..43100484 [GRCh38] Chr10:43595931..43595932 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.1821C>T (p.Gly607=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002412070]|Multiple endocrine neoplasia, type 2 [RCV001340820]|RET-related condition [RCV003898325] | Chr10:43113617 [GRCh38] Chr10:43609065 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.349C>T (p.Pro117Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001306090] | Chr10:43102353 [GRCh38] Chr10:43597801 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1348A>G (p.Ser450Gly) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001343600] | Chr10:43111291 [GRCh38] Chr10:43606739 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1910T>G (p.Val637Gly) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001321771] | Chr10:43114510 [GRCh38] Chr10:43609958 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1727A>G (p.Gln576Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001295568] | Chr10:43112931 [GRCh38] Chr10:43608379 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.212A>G (p.His71Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001299944] | Chr10:43100597 [GRCh38] Chr10:43596045 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.936G>A (p.Arg312=) | single nucleotide variant | not provided [RCV001310572] | Chr10:43106444 [GRCh38] Chr10:43601892 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.455C>T (p.Thr152Ile) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001322029] | Chr10:43102459 [GRCh38] Chr10:43597907 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1882C>T (p.Pro628Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001313212] | Chr10:43114482 [GRCh38] Chr10:43609930 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1614A>G (p.Thr538=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001422949] | Chr10:43112190 [GRCh38] Chr10:43607638 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.855C>G (p.Phe285Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002447271]|Multiple endocrine neoplasia, type 2 [RCV001297059] | Chr10:43105181 [GRCh38] Chr10:43600629 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.387C>T (p.Pro129=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002368297]|Multiple endocrine neoplasia, type 2 [RCV001415011] | Chr10:43102391 [GRCh38] Chr10:43597839 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1479T>C (p.Ser493=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001397375] | Chr10:43111422 [GRCh38] Chr10:43606870 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1764C>A (p.Gly588=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002404920]|Multiple endocrine neoplasia, type 2 [RCV001396934] | Chr10:43113560 [GRCh38] Chr10:43609008 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3280A>G (p.Ser1094Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002447337]|Multiple endocrine neoplasia, type 2 [RCV001315998] | Chr10:43128204 [GRCh38] Chr10:43623652 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2789C>T (p.Thr930Met) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001338176] | Chr10:43122004 [GRCh38] Chr10:43617452 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.475T>A (p.Ser159Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002341761]|Multiple endocrine neoplasia, type 2 [RCV001361533] | Chr10:43102479 [GRCh38] Chr10:43597927 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2229C>T (p.Ala743=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002432203]|Multiple endocrine neoplasia, type 2 [RCV001433121] | Chr10:43116676 [GRCh38] Chr10:43612124 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2871T>C (p.Pro957=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002438895]|Multiple endocrine neoplasia, type 2 [RCV001391918] | Chr10:43123740 [GRCh38] Chr10:43619188 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2137-13A>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002070089]|not provided [RCV001289029] | Chr10:43116571 [GRCh38] Chr10:43612019 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.2112C>G (p.Val704=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001396785] | Chr10:43114712 [GRCh38] Chr10:43610160 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.675G>C (p.Thr225=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001433421] | Chr10:43105001 [GRCh38] Chr10:43600449 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2954T>G (p.Leu985Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003169740]|Multiple endocrine neoplasia, type 2 [RCV001351105] | Chr10:43124897 [GRCh38] Chr10:43620345 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3187+7T>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001422719] | Chr10:43126729 [GRCh38] Chr10:43622177 [GRCh37] Chr10:10q11.21 |
likely benign |
NC_000010.10:g.(?_43617300)_(43623793_?)dup | duplication | Multiple endocrine neoplasia, type 2 [RCV001316561] | Chr10:43617300..43623793 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1326G>A (p.Leu442=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002384556]|Multiple endocrine neoplasia, type 2 [RCV001392203] | Chr10:43111269 [GRCh38] Chr10:43606717 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2297C>G (p.Pro766Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001359730] | Chr10:43118385 [GRCh38] Chr10:43613833 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1710C>T (p.Cys570=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002259120]|Multiple endocrine neoplasia, type 2 [RCV001422454] | Chr10:43112914 [GRCh38] Chr10:43608362 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2655G>A (p.Gly885=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002456718]|Multiple endocrine neoplasia, type 2 [RCV001433889] | Chr10:43120128 [GRCh38] Chr10:43615576 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.636G>C (p.Leu212=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002368237]|Multiple endocrine neoplasia, type 2 [RCV001392606] | Chr10:43104962 [GRCh38] Chr10:43600410 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1617C>A (p.Gly539=) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV002493973]|Multiple endocrine neoplasia, type 2 [RCV001413705] | Chr10:43112193 [GRCh38] Chr10:43607641 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.363C>T (p.Val121=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002350854]|Multiple endocrine neoplasia, type 2 [RCV001433471] | Chr10:43102367 [GRCh38] Chr10:43597815 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2765C>T (p.Ser922Phe) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001312406] | Chr10:43121980 [GRCh38] Chr10:43617428 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2284+6_2284+7del | deletion | Multiple endocrine neoplasia, type 2 [RCV001371069] | Chr10:43116737..43116738 [GRCh38] Chr10:43612185..43612186 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.555C>T (p.Phe185=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002350741]|Multiple endocrine neoplasia, type 2 [RCV001392655] | Chr10:43102559 [GRCh38] Chr10:43598007 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3112A>T (p.Thr1038Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001360302] | Chr10:43126647 [GRCh38] Chr10:43622095 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1203C>T (p.Ser401=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002350742]|Multiple endocrine neoplasia, type 2 [RCV001392680]|not provided [RCV002476736] | Chr10:43109170 [GRCh38] Chr10:43604618 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.2068T>G (p.Ser690Ala) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001351508] | Chr10:43114668 [GRCh38] Chr10:43610116 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1450A>T (p.Met484Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002395852]|Multiple endocrine neoplasia, type 2 [RCV001373575] | Chr10:43111393 [GRCh38] Chr10:43606841 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.738C>T (p.His246=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002384625]|Multiple endocrine neoplasia, type 2 [RCV001422481] | Chr10:43105064 [GRCh38] Chr10:43600512 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.445TTC[1] (p.Phe150del) | microsatellite | Hereditary cancer-predisposing syndrome [RCV002329267]|Hirschsprung disease, susceptibility to, 1 [RCV002476466]|Multiple endocrine neoplasia, type 2 [RCV001315295] | Chr10:43102448..43102450 [GRCh38] Chr10:43597896..43597898 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1289G>A (p.Cys430Tyr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001371900] | Chr10:43111232 [GRCh38] Chr10:43606680 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NC_000010.10:g.(?_43572512)_(43596180_?)dup | duplication | Multiple endocrine neoplasia, type 2 [RCV001362984] | Chr10:43572512..43596180 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2222C>G (p.Ala741Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003169685]|Multiple endocrine neoplasia, type 2 [RCV001346340] | Chr10:43116669 [GRCh38] Chr10:43612117 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.319G>A (p.Glu107Lys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001373522]|not provided [RCV003227033] | Chr10:43100704 [GRCh38] Chr10:43596152 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2557T>C (p.Ser853Pro) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001364112] | Chr10:43119695 [GRCh38] Chr10:43615143 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2945G>T (p.Arg982Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002437045]|Multiple endocrine neoplasia, type 2 [RCV001306371] | Chr10:43124888 [GRCh38] Chr10:43620336 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.865G>C (p.Glu289Gln) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001343531] | Chr10:43105191 [GRCh38] Chr10:43600639 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.760G>C (p.Val254Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003355409]|Multiple endocrine neoplasia, type 2 [RCV001343573] | Chr10:43105086 [GRCh38] Chr10:43600534 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1994A>G (p.His665Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002419019]|Multiple endocrine neoplasia, type 2 [RCV001344753] | Chr10:43114594 [GRCh38] Chr10:43610042 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.385C>G (p.Pro129Ala) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001364945] | Chr10:43102389 [GRCh38] Chr10:43597837 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2412G>A (p.Val804=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002255182]|Multiple endocrine neoplasia, type 2 [RCV001337765] | Chr10:43119550 [GRCh38] Chr10:43614998 [GRCh37] Chr10:10q11.21 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.2267C>G (p.Ala756Gly) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001327281] | Chr10:43116714 [GRCh38] Chr10:43612162 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3163A>C (p.Thr1055Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002322273]|Multiple endocrine neoplasia, type 2 [RCV001338647] | Chr10:43126698 [GRCh38] Chr10:43622146 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3316G>A (p.Ala1106Thr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001342127] | Chr10:43128240 [GRCh38] Chr10:43623688 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2108A>G (p.Gln703Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001320143] | Chr10:43114708 [GRCh38] Chr10:43610156 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1683C>A (p.Ser561Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001301596] | Chr10:43112887 [GRCh38] Chr10:43608335 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.10G>A (p.Ala4Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003382525]|Multiple endocrine neoplasia, type 2 [RCV001323974] | Chr10:43077268 [GRCh38] Chr10:43572716 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.35_55dup (p.Leu18_Leu19insArgLeuLeuLeuLeuLeuLeu) | duplication | Hereditary cancer-predisposing syndrome [RCV002456583]|Multiple endocrine neoplasia, type 2 [RCV001371496] | Chr10:43077287..43077288 [GRCh38] Chr10:43572735..43572736 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1460C>T (p.Ala487Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001369803] | Chr10:43111403 [GRCh38] Chr10:43606851 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1042C>T (p.Arg348Trp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002393740]|Multiple endocrine neoplasia, type 2 [RCV001309730] | Chr10:43106550 [GRCh38] Chr10:43601998 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.193A>G (p.Ser65Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002413150] | Chr10:43100578 [GRCh38] Chr10:43596026 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1537G>A (p.Ala513Thr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001315791] | Chr10:43112113 [GRCh38] Chr10:43607561 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2039C>T (p.Ala680Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001318861] | Chr10:43114639 [GRCh38] Chr10:43610087 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.566G>T (p.Arg189Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002350583]|Multiple endocrine neoplasia, type 2 [RCV001318862] | Chr10:43102570 [GRCh38] Chr10:43598018 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1697C>T (p.Pro566Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001320361] | Chr10:43112901 [GRCh38] Chr10:43608349 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.5_28dup (p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla) | duplication | Hereditary cancer-predisposing syndrome [RCV002350589]|Multiple endocrine neoplasia, type 2 [RCV001320496]|not specified [RCV003321826] | Chr10:43077260..43077261 [GRCh38] Chr10:43572708..43572709 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1046C>T (p.Ala349Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001368398] | Chr10:43106554 [GRCh38] Chr10:43602002 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.242A>G (p.His81Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003375272]|Multiple endocrine neoplasia, type 2 [RCV001374121] | Chr10:43100627 [GRCh38] Chr10:43596075 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3137C>A (p.Ala1046Asp) | single nucleotide variant | Familial medullary thyroid carcinoma [RCV001292752]|Hirschsprung disease, susceptibility to, 1 [RCV003469509]|Multiple endocrine neoplasia, type 2 [RCV002538416] | Chr10:43126672 [GRCh38] Chr10:43622120 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1579G>A (p.Glu527Lys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001320756] | Chr10:43112155 [GRCh38] Chr10:43607603 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2779A>C (p.Ile927Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001320770] | Chr10:43121994 [GRCh38] Chr10:43617442 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.959C>T (p.Pro320Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002384426]|Multiple endocrine neoplasia, type 2 [RCV001323360]|Ovarian cancer [RCV003153993] | Chr10:43106467 [GRCh38] Chr10:43601915 [GRCh37] Chr10:10q11.21 |
benign|uncertain significance |
NM_020975.6(RET):c.202C>A (p.Leu68Met) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001369848] | Chr10:43100587 [GRCh38] Chr10:43596035 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.712G>A (p.Glu238Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002377452]|Multiple endocrine neoplasia, type 2 [RCV001342764] | Chr10:43105038 [GRCh38] Chr10:43600486 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1108A>G (p.Met370Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002456489]|Multiple endocrine neoplasia, type 2 [RCV001344262] | Chr10:43109075 [GRCh38] Chr10:43604523 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1804A>T (p.Ile602Phe) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002412084]|Multiple endocrine neoplasia, type 2 [RCV001345270] | Chr10:43113600 [GRCh38] Chr10:43609048 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3056C>G (p.Ala1019Gly) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001363474] | Chr10:43126591 [GRCh38] Chr10:43622039 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.743G>C (p.Gly248Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002384466]|Multiple endocrine neoplasia, type 2 [RCV001342912] | Chr10:43105069 [GRCh38] Chr10:43600517 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3180A>T (p.Lys1060Asn) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001345317] | Chr10:43126715 [GRCh38] Chr10:43622163 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3106G>A (p.Glu1036Lys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001345327] | Chr10:43126641 [GRCh38] Chr10:43622089 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2734C>T (p.Arg912Trp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001363564] | Chr10:43121949 [GRCh38] Chr10:43617397 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.751G>A (p.Glu251Lys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001340115]|not provided [RCV003442860] | Chr10:43105077 [GRCh38] Chr10:43600525 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1076A>T (p.Asn359Ile) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001309049] | Chr10:43109043 [GRCh38] Chr10:43604491 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.394C>G (p.Leu132Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003169784]|Multiple endocrine neoplasia, type 2 [RCV001359793] | Chr10:43102398 [GRCh38] Chr10:43597846 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3187G>A (p.Gly1063Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001308240] | Chr10:43126722 [GRCh38] Chr10:43622170 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.50T>C (p.Leu17Pro) | single nucleotide variant | Breast carcinoma [RCV002245970]|Multiple endocrine neoplasia, type 2 [RCV001343082] | Chr10:43077308 [GRCh38] Chr10:43572756 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2890C>G (p.Leu964Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001373146] | Chr10:43123759 [GRCh38] Chr10:43619207 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1842G>A (p.Glu614=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002413881]|Multiple endocrine neoplasia, type 2 [RCV001368213] | Chr10:43113638 [GRCh38] Chr10:43609086 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.2245A>G (p.Arg749Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002419017]|Multiple endocrine neoplasia, type 2 [RCV001344497] | Chr10:43116692 [GRCh38] Chr10:43612140 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.35_52dup (p.Leu17_Leu18insArgLeuLeuLeuLeuLeu) | duplication | Hereditary cancer-predisposing syndrome [RCV002456553]|Multiple endocrine neoplasia, type 2 [RCV001362298] | Chr10:43077287..43077288 [GRCh38] Chr10:43572735..43572736 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2464G>T (p.Val822Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002447268]|Multiple endocrine neoplasia, type 2 [RCV001296673] | Chr10:43119602 [GRCh38] Chr10:43615050 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.137C>T (p.Ala46Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001318344] | Chr10:43100522 [GRCh38] Chr10:43595970 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.916G>T (p.Ala306Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001321383] | Chr10:43106424 [GRCh38] Chr10:43601872 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2900G>A (p.Gly967Asp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001345629] | Chr10:43123769 [GRCh38] Chr10:43619217 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1058A>C (p.Asp353Ala) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001306400] | Chr10:43106566 [GRCh38] Chr10:43602014 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3089ACG[1] (p.Asp1031del) | microsatellite | Multiple endocrine neoplasia, type 2 [RCV001338079] | Chr10:43126623..43126625 [GRCh38] Chr10:43622071..43622073 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.664G>A (p.Glu222Lys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001308859]|not provided [RCV003229888] | Chr10:43104990 [GRCh38] Chr10:43600438 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3057G>T (p.Ala1019=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001395647] | Chr10:43126592 [GRCh38] Chr10:43622040 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2936A>G (p.Glu979Gly) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001313973] | Chr10:43123805 [GRCh38] Chr10:43619253 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NC_000010.10:g.(?_43613811)_(43623725_?)dup | duplication | Multiple endocrine neoplasia, type 2 [RCV001305484] | Chr10:43613811..43623725 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1971C>G (p.Ile657Met) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001371373] | Chr10:43114571 [GRCh38] Chr10:43610019 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.16T>C (p.Ser6Pro) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001309613] | Chr10:43077274 [GRCh38] Chr10:43572722 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1098G>C (p.Glu366Asp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001880196]|not provided [RCV001269685] | Chr10:43109065 [GRCh38] Chr10:43604513 [GRCh37] Chr10:10q11.21 |
pathogenic|uncertain significance |
NM_020975.6(RET):c.3095G>A (p.Gly1032Asp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001306015] | Chr10:43126630 [GRCh38] Chr10:43622078 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.452A>T (p.Asn151Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002341583]|Hirschsprung disease, susceptibility to, 1 [RCV002476383]|Multiple endocrine neoplasia, type 2 [RCV001297473] | Chr10:43102456 [GRCh38] Chr10:43597904 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.19G>A (p.Gly7Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003373102]|Multiple endocrine neoplasia, type 2 [RCV001297483] | Chr10:43077277 [GRCh38] Chr10:43572725 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2416T>C (p.Tyr806His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002447379]|Multiple endocrine neoplasia, type 2 [RCV001327277] | Chr10:43119554 [GRCh38] Chr10:43615002 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3124G>A (p.Asp1042Asn) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV002493565]|Hirschsprung disease, susceptibility to, 1 [RCV003462858]|Multiple endocrine neoplasia, type 2 [RCV001297527] | Chr10:43126659 [GRCh38] Chr10:43622107 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1017G>T (p.Ser339=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001396373] | Chr10:43106525 [GRCh38] Chr10:43601973 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3051C>G (p.Asp1017Glu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001367397] | Chr10:43126586 [GRCh38] Chr10:43622034 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.172G>A (p.Asp58Asn) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001369346] | Chr10:43100557 [GRCh38] Chr10:43596005 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3020A>C (p.Lys1007Thr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001307727] | Chr10:43124963 [GRCh38] Chr10:43620411 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3151G>A (p.Ala1051Thr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001360911] | Chr10:43126686 [GRCh38] Chr10:43622134 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3162C>G (p.Ser1054=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001394769] | Chr10:43126697 [GRCh38] Chr10:43622145 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2054T>C (p.Val685Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002420826]|Multiple endocrine neoplasia, type 2 [RCV001369956] | Chr10:43114654 [GRCh38] Chr10:43610102 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3138_3139delinsTT (p.Pro1047Ser) | indel | Hereditary cancer-predisposing syndrome [RCV002322227]|Multiple endocrine neoplasia, type 2 [RCV001316238] | Chr10:43126673..43126674 [GRCh38] Chr10:43622121..43622122 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3247_3254del (p.Thr1083fs) | deletion | Multiple endocrine neoplasia, type 2 [RCV001316280] | Chr10:43128170..43128177 [GRCh38] Chr10:43623618..43623625 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2583G>T (p.Gly861=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002430120]|Multiple endocrine neoplasia, type 2 [RCV001307974] | Chr10:43119721 [GRCh38] Chr10:43615169 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1358G>C (p.Gly453Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002384381]|Multiple endocrine neoplasia, type 2 [RCV001308114] | Chr10:43111301 [GRCh38] Chr10:43606749 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.160C>T (p.His54Tyr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001365644] | Chr10:43100545 [GRCh38] Chr10:43595993 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2574C>T (p.Ile858=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001494874] | Chr10:43119712 [GRCh38] Chr10:43615160 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1509A>T (p.Thr503=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002395965]|Multiple endocrine neoplasia, type 2 [RCV001421701] | Chr10:43111452 [GRCh38] Chr10:43606900 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1985A>G (p.Lys662Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001339448] | Chr10:43114585 [GRCh38] Chr10:43610033 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2257A>G (p.Thr753Ala) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001317383] | Chr10:43116704 [GRCh38] Chr10:43612152 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.357C>T (p.Leu119=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002456658]|Multiple endocrine neoplasia, type 2 [RCV001413106] | Chr10:43102361 [GRCh38] Chr10:43597809 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2507G>A (p.Ser836Asn) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001365983] | Chr10:43119645 [GRCh38] Chr10:43615093 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.96G>T (p.Ser32=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001490144] | Chr10:43100481 [GRCh38] Chr10:43595929 [GRCh37] Chr10:10q11.21 |
likely benign |
NC_000010.10:g.(?_43595901)_(43598083_?)del | deletion | Multiple endocrine neoplasia, type 2 [RCV001377670] | Chr10:43595901..43598083 [GRCh37] Chr10:10q11.21 |
likely pathogenic |
NM_020975.6(RET):c.3081G>A (p.Leu1027=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001494544] | Chr10:43126616 [GRCh38] Chr10:43622064 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1458G>A (p.Val486=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002396096]|Multiple endocrine neoplasia, type 2 [RCV001464293] | Chr10:43111401 [GRCh38] Chr10:43606849 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.957C>T (p.Leu319=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001499462] | Chr10:43106465 [GRCh38] Chr10:43601913 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1264-4dup | duplication | Multiple endocrine neoplasia, type 2 [RCV001515665] | Chr10:43111197..43111198 [GRCh38] Chr10:43606645..43606646 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.2073T>C (p.Gly691=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002421035]|Multiple endocrine neoplasia, type 2 [RCV001457944] | Chr10:43114673 [GRCh38] Chr10:43610121 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.867+10C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001470189] | Chr10:43105203 [GRCh38] Chr10:43600651 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.73+10G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001478650] | Chr10:43077341 [GRCh38] Chr10:43572789 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2393-4C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001487707] | Chr10:43119527 [GRCh38] Chr10:43614975 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2238G>A (p.Leu746=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002432213]|Multiple endocrine neoplasia, type 2 [RCV001436244] | Chr10:43116685 [GRCh38] Chr10:43612133 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.337+12_337+14del | microsatellite | Multiple endocrine neoplasia, type 2 [RCV001441671] | Chr10:43100731..43100733 [GRCh38] Chr10:43596179..43596181 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2319G>A (p.Leu773=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002449234]|Multiple endocrine neoplasia, type 2 [RCV001461636] | Chr10:43118407 [GRCh38] Chr10:43613855 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1264-9C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001436386] | Chr10:43111198 [GRCh38] Chr10:43606646 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1648+7C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001470975] | Chr10:43112231 [GRCh38] Chr10:43607679 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2742A>C (p.Pro914=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001428427] | Chr10:43121957 [GRCh38] Chr10:43617405 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.960C>T (p.Pro320=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002384644]|Hirschsprung disease, susceptibility to, 1 [RCV002504708]|Multiple endocrine neoplasia, type 2 [RCV001430908]|not specified [RCV001732182] | Chr10:43106468 [GRCh38] Chr10:43601916 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.2112C>T (p.Val704=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001405400] | Chr10:43114712 [GRCh38] Chr10:43610160 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.657C>T (p.Asp219=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001431139] | Chr10:43104983 [GRCh38] Chr10:43600431 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2457C>T (p.Ser819=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002432120]|Multiple endocrine neoplasia, type 2 [RCV001405618] | Chr10:43119595 [GRCh38] Chr10:43615043 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1064-10C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001491497] | Chr10:43109021 [GRCh38] Chr10:43604469 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2238G>T (p.Leu746=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002420993]|Multiple endocrine neoplasia, type 2 [RCV001439604] | Chr10:43116685 [GRCh38] Chr10:43612133 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3234G>A (p.Thr1078=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002324065]|Multiple endocrine neoplasia, type 2 [RCV001479514] | Chr10:43128158 [GRCh38] Chr10:43623606 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2607+10T>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001455649] | Chr10:43119755 [GRCh38] Chr10:43615203 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1170G>A (p.Leu390=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001492883] | Chr10:43109137 [GRCh38] Chr10:43604585 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2757A>G (p.Ala919=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002439032]|Multiple endocrine neoplasia, type 2 [RCV001439665] | Chr10:43121972 [GRCh38] Chr10:43617420 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1879+8G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001442323] | Chr10:43113683 [GRCh38] Chr10:43609131 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2487T>C (p.Ser829=) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV002476781]|Multiple endocrine neoplasia, type 2 [RCV001471905] | Chr10:43119625 [GRCh38] Chr10:43615073 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3198C>T (p.Asp1066=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002322462]|Multiple endocrine neoplasia, type 2 [RCV001439759] | Chr10:43128122 [GRCh38] Chr10:43623570 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2583G>A (p.Gly861=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003160976]|Multiple endocrine neoplasia, type 2 [RCV001489384] | Chr10:43119721 [GRCh38] Chr10:43615169 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1215C>T (p.Pro405=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002358954]|Multiple endocrine neoplasia, type 2 [RCV001426659]|not provided [RCV001531682] | Chr10:43109182 [GRCh38] Chr10:43604630 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.963G>A (p.Gly321=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001442723] | Chr10:43106471 [GRCh38] Chr10:43601919 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1107C>T (p.Thr369=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002432122]|Multiple endocrine neoplasia, type 2 [RCV001406182] | Chr10:43109074 [GRCh38] Chr10:43604522 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.162T>C (p.His54=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001485924] | Chr10:43100547 [GRCh38] Chr10:43595995 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.966C>T (p.Asp322=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001501489] | Chr10:43106474 [GRCh38] Chr10:43601922 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1245G>A (p.Arg415=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002395900]|Multiple endocrine neoplasia, type 2 [RCV001398354] | Chr10:43109212 [GRCh38] Chr10:43604660 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2634A>G (p.Arg878=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001463648] | Chr10:43120107 [GRCh38] Chr10:43615555 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.990G>C (p.Arg330=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001463649] | Chr10:43106498 [GRCh38] Chr10:43601946 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.63G>A (p.Leu21=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003375312]|Multiple endocrine neoplasia, type 2 [RCV001468919] | Chr10:43077321 [GRCh38] Chr10:43572769 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.996A>G (p.Glu332=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003298870]|Multiple endocrine neoplasia, type 2 [RCV001491989] | Chr10:43106504 [GRCh38] Chr10:43601952 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2730+12del | deletion | Multiple endocrine neoplasia, type 2 [RCV001493535] | Chr10:43120213 [GRCh38] Chr10:43615661 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.153G>A (p.Leu51=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002405151]|Multiple endocrine neoplasia, type 2 [RCV001490066]|RET-related condition [RCV003900692] | Chr10:43100538 [GRCh38] Chr10:43595986 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.338-6C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001493646] | Chr10:43102336 [GRCh38] Chr10:43597784 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.180T>G (p.Pro60=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001424401] | Chr10:43100565 [GRCh38] Chr10:43596013 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2393-8G>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001409269] | Chr10:43119523 [GRCh38] Chr10:43614971 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.678C>T (p.Arg226=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002368358]|Multiple endocrine neoplasia, type 2 [RCV001440935] | Chr10:43105004 [GRCh38] Chr10:43600452 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.561G>A (p.Gln187=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002350810]|Multiple endocrine neoplasia, type 2 [RCV001418407] | Chr10:43102565 [GRCh38] Chr10:43598013 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.661C>T (p.Leu221=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001437102] | Chr10:43104987 [GRCh38] Chr10:43600435 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2448C>T (p.Leu816=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002258255]|Multiple endocrine neoplasia, type 2 [RCV001437183] | Chr10:43119586 [GRCh38] Chr10:43615034 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.723C>A (p.Ala241=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002377662]|Multiple endocrine neoplasia, type 2 [RCV001419910]|not provided [RCV003456494] | Chr10:43105049 [GRCh38] Chr10:43600497 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2393-8G>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001428046] | Chr10:43119523 [GRCh38] Chr10:43614971 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1263+9A>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001446313] | Chr10:43109239 [GRCh38] Chr10:43604687 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.229C>T (p.Arg77Cys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001381227] | Chr10:43100614 [GRCh38] Chr10:43596062 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.61C>T (p.Leu21=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002357336]|Multiple endocrine neoplasia, type 2 [RCV001403324] | Chr10:43077319 [GRCh38] Chr10:43572767 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2939+10G>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001448995] | Chr10:43123818 [GRCh38] Chr10:43619266 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.621G>A (p.Leu207=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002368370]|Multiple endocrine neoplasia, type 2 [RCV001444048] | Chr10:43102625 [GRCh38] Chr10:43598073 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.900T>C (p.Asp300=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001446759] | Chr10:43106408 [GRCh38] Chr10:43601856 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.450C>T (p.Phe150=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001446773] | Chr10:43102454 [GRCh38] Chr10:43597902 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.43T>C (p.Leu15=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002329490]|Multiple endocrine neoplasia, type 2 [RCV001439108] | Chr10:43077301 [GRCh38] Chr10:43572749 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.318G>A (p.Trp106Ter) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001381565] | Chr10:43100703 [GRCh38] Chr10:43596151 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.2406C>T (p.Leu802=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001393185] | Chr10:43119544 [GRCh38] Chr10:43614992 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1164C>T (p.Val388=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003298736]|Multiple endocrine neoplasia, type 2 [RCV001431360] | Chr10:43109131 [GRCh38] Chr10:43604579 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2649T>A (p.Ala883=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003298666]|Multiple endocrine neoplasia, type 2 [RCV001405793] | Chr10:43120122 [GRCh38] Chr10:43615570 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.73+8C>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001434624] | Chr10:43077339 [GRCh38] Chr10:43572787 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2985G>A (p.Arg995=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003355457]|Hirschsprung disease, susceptibility to, 1 [RCV002499850]|Multiple endocrine neoplasia, type 2 [RCV001401269] | Chr10:43124928 [GRCh38] Chr10:43620376 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.396T>C (p.Leu132=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001445121] | Chr10:43102400 [GRCh38] Chr10:43597848 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2049C>T (p.Phe683=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003169957]|Multiple endocrine neoplasia, type 2 [RCV001393676]|RET-related condition [RCV003963256] | Chr10:43114649 [GRCh38] Chr10:43610097 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.898G>A (p.Asp300Asn) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV001376021] | Chr10:43106406 [GRCh38] Chr10:43601854 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3051C>T (p.Asp1017=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002449164]|Multiple endocrine neoplasia, type 2 [RCV001429732] | Chr10:43126586 [GRCh38] Chr10:43622034 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1522+7G>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001448217] | Chr10:43111472 [GRCh38] Chr10:43606920 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1962C>A (p.Ala654=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002421012]|Multiple endocrine neoplasia, type 2 [RCV001448319] | Chr10:43114562 [GRCh38] Chr10:43610010 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.462T>C (p.Phe154=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001416642] | Chr10:43102466 [GRCh38] Chr10:43597914 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1880-8dup | duplication | Multiple endocrine neoplasia, type 2 [RCV001440771] | Chr10:43114471..43114472 [GRCh38] Chr10:43609919..43609920 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.52C>T (p.Leu18=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001409358] | Chr10:43077310 [GRCh38] Chr10:43572758 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1347C>T (p.Cys449=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001501987] | Chr10:43111290 [GRCh38] Chr10:43606738 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.73+9189C>A | single nucleotide variant | not provided [RCV001715166] | Chr10:43086520 [GRCh38] Chr10:43581968 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.2643G>A (p.Leu881=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002424945]|Multiple endocrine neoplasia, type 2 [RCV001506279] | Chr10:43120116 [GRCh38] Chr10:43615564 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2976G>C (p.Pro992=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002439178]|Multiple endocrine neoplasia, type 2 [RCV001490400] | Chr10:43124919 [GRCh38] Chr10:43620367 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2598C>G (p.Ala866=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002432251]|Multiple endocrine neoplasia, type 2 [RCV001450494] | Chr10:43119736 [GRCh38] Chr10:43615184 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3040-311A>G | single nucleotide variant | not provided [RCV001679655] | Chr10:43126264 [GRCh38] Chr10:43621712 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.135A>T (p.Ala45=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001495944] | Chr10:43100520 [GRCh38] Chr10:43595968 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.279C>A (p.Gly93=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003298886]|Multiple endocrine neoplasia, type 2 [RCV001495876] | Chr10:43100664 [GRCh38] Chr10:43596112 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.114G>A (p.Glu38=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002458480]|Multiple endocrine neoplasia, type 2 [RCV001502993] | Chr10:43100499 [GRCh38] Chr10:43595947 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.74-57del | deletion | not provided [RCV001671067] | Chr10:43100389 [GRCh38] Chr10:43595837 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.1522+308C>G | single nucleotide variant | not provided [RCV001674152] | Chr10:43111773 [GRCh38] Chr10:43607221 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.868-4G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001451796] | Chr10:43106372 [GRCh38] Chr10:43601820 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.-68C>T | single nucleotide variant | not provided [RCV001611274] | Chr10:43077191 [GRCh38] Chr10:43572639 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.73+188G>A | single nucleotide variant | not provided [RCV001587090] | Chr10:43077519 [GRCh38] Chr10:43572967 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.867+166G>A | single nucleotide variant | not provided [RCV001586863] | Chr10:43105359 [GRCh38] Chr10:43600807 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2133C>T (p.Ile711=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001476987] | Chr10:43114733 [GRCh38] Chr10:43610181 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1425G>A (p.Arg475=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001453135] | Chr10:43111368 [GRCh38] Chr10:43606816 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1551G>A (p.Leu517=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001459858] | Chr10:43112127 [GRCh38] Chr10:43607575 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.337+10C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001460537] | Chr10:43100732 [GRCh38] Chr10:43596180 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.69C>G (p.Gly23=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002368463]|Multiple endocrine neoplasia, type 2 [RCV001477925] | Chr10:43077327 [GRCh38] Chr10:43572775 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.783C>T (p.Thr261=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002414100]|Multiple endocrine neoplasia, type 2 [RCV001460303] | Chr10:43105109 [GRCh38] Chr10:43600557 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1760-57G>T | single nucleotide variant | not provided [RCV001678631] | Chr10:43113499 [GRCh38] Chr10:43608947 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.2730+257C>T | single nucleotide variant | not provided [RCV001654933] | Chr10:43120460 [GRCh38] Chr10:43615908 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.2801+72G>A | single nucleotide variant | not provided [RCV001716727] | Chr10:43122088 [GRCh38] Chr10:43617536 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.3039+9del | deletion | Multiple endocrine neoplasia, type 2 [RCV001481154] | Chr10:43124990 [GRCh38] Chr10:43620438 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1176C>T (p.His392=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003160832]|Multiple endocrine neoplasia, type 2 [RCV001453585] | Chr10:43109143 [GRCh38] Chr10:43604591 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.73+173_73+174insCGGGCGGCG | microsatellite | not provided [RCV001710329] | Chr10:43077503..43077504 [GRCh38] Chr10:43572951..43572952 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.2172G>A (p.Leu724=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001461078] | Chr10:43116619 [GRCh38] Chr10:43612067 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2839C>T (p.Leu947=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002439110]|Multiple endocrine neoplasia, type 2 [RCV001467389] | Chr10:43123708 [GRCh38] Chr10:43619156 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3249T>C (p.Thr1083=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001505401] | Chr10:43128173 [GRCh38] Chr10:43623621 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.981G>A (p.Gln327=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003160959]|Multiple endocrine neoplasia, type 2 [RCV001485254] | Chr10:43106489 [GRCh38] Chr10:43601937 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2511C>T (p.Ser837=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001478367] | Chr10:43119649 [GRCh38] Chr10:43615097 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2064C>T (p.Ser688=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001472685] | Chr10:43114664 [GRCh38] Chr10:43610112 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2553C>T (p.Leu851=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003298706]|Multiple endocrine neoplasia, type 2 [RCV001419034] | Chr10:43119691 [GRCh38] Chr10:43615139 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2991G>A (p.Val997=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003160675]|Multiple endocrine neoplasia, type 2 [RCV001417391] | Chr10:43124934 [GRCh38] Chr10:43620382 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2787C>A (p.Thr929=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002439081]|Multiple endocrine neoplasia, type 2 [RCV001457439] | Chr10:43122002 [GRCh38] Chr10:43617450 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2940-4C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001427118] | Chr10:43124879 [GRCh38] Chr10:43620327 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1884A>G (p.Pro628=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001477808] | Chr10:43114484 [GRCh38] Chr10:43609932 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1233C>T (p.Ser411=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002377756]|Multiple endocrine neoplasia, type 2 [RCV001455460] | Chr10:43109200 [GRCh38] Chr10:43604648 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2061C>T (p.Tyr687=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001451339] | Chr10:43114661 [GRCh38] Chr10:43610109 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.276C>G (p.Thr92=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003298836]|Multiple endocrine neoplasia, type 2 [RCV001477153]|not specified [RCV001820174] | Chr10:43100661 [GRCh38] Chr10:43596109 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.483G>A (p.Lys161=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001440055] | Chr10:43102487 [GRCh38] Chr10:43597935 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1731C>T (p.Asp577=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001440190] | Chr10:43112935 [GRCh38] Chr10:43608383 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2394C>G (p.Gly798=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001406235] | Chr10:43119532 [GRCh38] Chr10:43614980 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2940-8C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001468851] | Chr10:43124875 [GRCh38] Chr10:43620323 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1149C>A (p.Gly383=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001476258] | Chr10:43109116 [GRCh38] Chr10:43604564 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1417C>T (p.Leu473=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001505135] | Chr10:43111360 [GRCh38] Chr10:43606808 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2619G>A (p.Arg873=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002456680]|Multiple endocrine neoplasia, type 2 [RCV001419588] | Chr10:43120092 [GRCh38] Chr10:43615540 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3201G>C (p.Pro1067=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002322506]|Multiple endocrine neoplasia, type 2 [RCV001461698] | Chr10:43128125 [GRCh38] Chr10:43623573 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1880-9C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001423255] | Chr10:43114471 [GRCh38] Chr10:43609919 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3075C>T (p.Asp1025=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001483527] | Chr10:43126610 [GRCh38] Chr10:43622058 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3069A>T (p.Pro1023=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001438499] | Chr10:43126604 [GRCh38] Chr10:43622052 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2700T>C (p.Tyr900=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002432185]|Hirschsprung disease, susceptibility to, 1 [RCV002504705]|Multiple endocrine neoplasia, type 2 [RCV001427792] | Chr10:43120173 [GRCh38] Chr10:43615621 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.846G>C (p.Val282=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002449171]|Multiple endocrine neoplasia, type 2 [RCV001432581] | Chr10:43105172 [GRCh38] Chr10:43600620 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1522+2T>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001376832] | Chr10:43111467 [GRCh38] Chr10:43606915 [GRCh37] Chr10:10q11.21 |
likely pathogenic |
NM_020975.6(RET):c.2349C>T (p.Asn783=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002449136]|Multiple endocrine neoplasia, type 2 [RCV001417946] | Chr10:43118437 [GRCh38] Chr10:43613885 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.626-9G>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001400416] | Chr10:43104943 [GRCh38] Chr10:43600391 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.586T>C (p.Leu196=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003160786]|Multiple endocrine neoplasia, type 2 [RCV001443693] | Chr10:43102590 [GRCh38] Chr10:43598038 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1911G>T (p.Val637=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002414030]|Multiple endocrine neoplasia, type 2 [RCV001434610] | Chr10:43114511 [GRCh38] Chr10:43609959 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2385C>T (p.Ser795=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002456855]|Multiple endocrine neoplasia, type 2 [RCV001485359] | Chr10:43118473 [GRCh38] Chr10:43613921 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2376G>A (p.Gly792=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001418584] | Chr10:43118464 [GRCh38] Chr10:43613912 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.438C>T (p.Tyr146=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003160702]|Multiple endocrine neoplasia, type 2 [RCV001424390] | Chr10:43102442 [GRCh38] Chr10:43597890 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.147C>T (p.Pro49=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002395998]|Multiple endocrine neoplasia, type 2 [RCV001435404] | Chr10:43100532 [GRCh38] Chr10:43595980 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1329T>C (p.His443=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001427071] | Chr10:43111272 [GRCh38] Chr10:43606720 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2136+7G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003108397] | Chr10:43114743 [GRCh38] Chr10:43610191 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2029C>A (p.Arg677=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002256977]|Multiple endocrine neoplasia, type 2 [RCV003101403] | Chr10:43114629 [GRCh38] Chr10:43610077 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1468C>G (p.Gln490Glu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003094041]|not specified [RCV002246798] | Chr10:43111411 [GRCh38] Chr10:43606859 [GRCh37] Chr10:10q11.21 |
benign|uncertain significance |
NM_020975.6(RET):c.1264-6C>T | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002259176]|Multiple endocrine neoplasia, type 2 [RCV003101401] | Chr10:43111201 [GRCh38] Chr10:43606649 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.2801+17C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002074052]|not provided [RCV003237663] | Chr10:43122033 [GRCh38] Chr10:43617481 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1349G>T (p.Ser450Ile) | single nucleotide variant | not provided [RCV003237665] | Chr10:43111292 [GRCh38] Chr10:43606740 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1232C>G (p.Ser411Cys) | single nucleotide variant | Familial medullary thyroid carcinoma [RCV001788940]|Hereditary cancer-predisposing syndrome [RCV002370319]|Multiple endocrine neoplasia, type 2 [RCV003533030] | Chr10:43109199 [GRCh38] Chr10:43604647 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.867+9C>T | single nucleotide variant | not provided [RCV003237662] | Chr10:43105202 [GRCh38] Chr10:43600650 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.-6C>T | single nucleotide variant | not provided [RCV001779783] | Chr10:43077253 [GRCh38] Chr10:43572701 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1633C>A (p.Gln545Lys) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV003464130]|Multiple endocrine neoplasia, type 2 [RCV003645899]|not provided [RCV001763677] | Chr10:43112209 [GRCh38] Chr10:43607657 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2781C>G (p.Ile927Met) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003772304]|not specified [RCV001819606] | Chr10:43121996 [GRCh38] Chr10:43617444 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1902_1903delinsTT (p.Arg635Cys) | indel | not specified [RCV001817765] | Chr10:43114502..43114503 [GRCh38] Chr10:43609950..43609951 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2802-11A>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002077297]|not specified [RCV001819662] | Chr10:43123660 [GRCh38] Chr10:43619108 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2935G>A (p.Glu979Lys) | single nucleotide variant | not specified [RCV001820549] | Chr10:43123804 [GRCh38] Chr10:43619252 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2915G>A (p.Arg972Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002440893]|Multiple endocrine neoplasia, type 2 [RCV001869748]|not specified [RCV001822369] | Chr10:43123784 [GRCh38] Chr10:43619232 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2332G>T (p.Val778Phe) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002045273] | Chr10:43118420 [GRCh38] Chr10:43613868 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1977C>G (p.Cys659Trp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001893394] | Chr10:43114577 [GRCh38] Chr10:43610025 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1706A>G (p.His569Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002397970]|Multiple endocrine neoplasia, type 2 [RCV001948777] | Chr10:43112910 [GRCh38] Chr10:43608358 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1238G>A (p.Ser413Asn) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001930088] | Chr10:43109205 [GRCh38] Chr10:43604653 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1279G>T (p.Val427Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001912202] | Chr10:43111222 [GRCh38] Chr10:43606670 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NC_000010.10:g.(?_43595897)_(43623725_?)dup | duplication | Multiple endocrine neoplasia, type 2 [RCV001969856] | Chr10:43595897..43623725 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.29G>C (p.Gly10Ala) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001949764] | Chr10:43077287 [GRCh38] Chr10:43572735 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1462A>G (p.Thr488Ala) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002021978] | Chr10:43111405 [GRCh38] Chr10:43606853 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2489G>A (p.Gly830Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003355727]|Multiple endocrine neoplasia, type 2 [RCV002021983] | Chr10:43119627 [GRCh38] Chr10:43615075 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3179A>G (p.Lys1060Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002324280]|Hirschsprung disease, susceptibility to, 1 [RCV002503483]|Multiple endocrine neoplasia, type 2 [RCV001871332] | Chr10:43126714 [GRCh38] Chr10:43622162 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2457C>G (p.Ser819Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002442988]|Multiple endocrine neoplasia, type 2 [RCV002025033] | Chr10:43119595 [GRCh38] Chr10:43615043 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2045C>T (p.Ala682Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001896894] | Chr10:43114645 [GRCh38] Chr10:43610093 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1577T>A (p.Leu526Gln) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002025433] | Chr10:43112153 [GRCh38] Chr10:43607601 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.133G>A (p.Ala45Thr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001950668] | Chr10:43100518 [GRCh38] Chr10:43595966 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1902_1903inv (p.Cys634_Arg635delinsTrpGly) | inversion | Multiple endocrine neoplasia, type 2 [RCV001949601] | Chr10:43114502..43114503 [GRCh38] Chr10:43609950..43609951 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.1064G>A (p.Arg355Lys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001970642] | Chr10:43109031 [GRCh38] Chr10:43604479 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1367C>G (p.Thr456Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001864585] | Chr10:43111310 [GRCh38] Chr10:43606758 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2255A>G (p.Tyr752Cys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001896932] | Chr10:43116702 [GRCh38] Chr10:43612150 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1414G>A (p.Ala472Thr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001896925] | Chr10:43111357 [GRCh38] Chr10:43606805 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.671G>C (p.Ser224Thr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002025286] | Chr10:43104997 [GRCh38] Chr10:43600445 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3266G>T (p.Arg1089Ile) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002024022] | Chr10:43128190 [GRCh38] Chr10:43623638 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3115C>A (p.Pro1039Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002324350]|Multiple endocrine neoplasia, type 2 [RCV001964655] | Chr10:43126650 [GRCh38] Chr10:43622098 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.738C>A (p.His246Gln) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001927375] | Chr10:43105064 [GRCh38] Chr10:43600512 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.485C>A (p.Pro162His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003303561]|Multiple endocrine neoplasia, type 2 [RCV001988177] | Chr10:43102489 [GRCh38] Chr10:43597937 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2026T>C (p.Phe676Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002423205]|Multiple endocrine neoplasia, type 2 [RCV001986158] | Chr10:43114626 [GRCh38] Chr10:43610074 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.838A>G (p.Ser280Gly) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001970939] | Chr10:43105164 [GRCh38] Chr10:43600612 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3007A>G (p.Lys1003Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002441132]|Multiple endocrine neoplasia, type 2 [RCV001971130] | Chr10:43124950 [GRCh38] Chr10:43620398 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.124G>T (p.Val42Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001891915] | Chr10:43100509 [GRCh38] Chr10:43595957 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3174A>C (p.Glu1058Asp) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV002492018]|Multiple endocrine neoplasia, type 2 [RCV001987400] | Chr10:43126709 [GRCh38] Chr10:43622157 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.89A>G (p.Tyr30Cys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001914533] | Chr10:43100474 [GRCh38] Chr10:43595922 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.53T>C (p.Leu18Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002344161]|Multiple endocrine neoplasia, type 2 [RCV001988207] | Chr10:43077311 [GRCh38] Chr10:43572759 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1553C>A (p.Ser518Tyr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001949138] | Chr10:43112129 [GRCh38] Chr10:43607577 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1367C>T (p.Thr456Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002386737]|Multiple endocrine neoplasia, type 2 [RCV001910673] | Chr10:43111310 [GRCh38] Chr10:43606758 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1816T>C (p.Tyr606His) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001872471] | Chr10:43113612 [GRCh38] Chr10:43609060 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.101A>G (p.Asp34Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002361178]|Multiple endocrine neoplasia, type 2 [RCV001896131] | Chr10:43100486 [GRCh38] Chr10:43595934 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1405G>A (p.Asp469Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002388977]|Multiple endocrine neoplasia, type 2 [RCV001988226] | Chr10:43111348 [GRCh38] Chr10:43606796 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3038G>A (p.Arg1013Lys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001874619] | Chr10:43124981 [GRCh38] Chr10:43620429 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.895T>G (p.Phe299Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001930060] | Chr10:43106403 [GRCh38] Chr10:43601851 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3115C>G (p.Pro1039Ala) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002005362] | Chr10:43126650 [GRCh38] Chr10:43622098 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1009G>C (p.Glu337Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002441019]|Multiple endocrine neoplasia, type 2 [RCV001909737] | Chr10:43106517 [GRCh38] Chr10:43601965 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1730A>T (p.Asp577Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001967935] | Chr10:43112934 [GRCh38] Chr10:43608382 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1412A>C (p.Lys471Thr) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV003471200]|Multiple endocrine neoplasia, type 2 [RCV001983311] | Chr10:43111355 [GRCh38] Chr10:43606803 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2939+3G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002040541] | Chr10:43123811 [GRCh38] Chr10:43619259 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1879G>A (p.Asp627Asn) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002039842] | Chr10:43113675 [GRCh38] Chr10:43609123 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2401C>G (p.Leu801Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001893120] | Chr10:43119539 [GRCh38] Chr10:43614987 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1463C>T (p.Thr488Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002388985]|Multiple endocrine neoplasia, type 2 [RCV002005689] | Chr10:43111406 [GRCh38] Chr10:43606854 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1840GAG[4] (p.Glu616_Lys617insGlu) | microsatellite | Hereditary cancer-predisposing syndrome [RCV002407152]|Multiple endocrine neoplasia, type 2 [RCV001985125] | Chr10:43113635..43113636 [GRCh38] Chr10:43609083..43609084 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.657C>G (p.Asp219Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003303490]|Hirschsprung disease, susceptibility to, 1 [RCV003471114]|Multiple endocrine neoplasia, type 2 [RCV002004945] | Chr10:43104983 [GRCh38] Chr10:43600431 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2644G>A (p.Val882Ile) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001966786] | Chr10:43120117 [GRCh38] Chr10:43615565 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1064-10_1064-9insG | insertion | Multiple endocrine neoplasia, type 2 [RCV001966899] | Chr10:43109021..43109022 [GRCh38] Chr10:43604469..43604470 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1259C>G (p.Ala420Gly) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001984113] | Chr10:43109226 [GRCh38] Chr10:43604674 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.346T>A (p.Phe116Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002458712]|Multiple endocrine neoplasia, type 2 [RCV001892171] | Chr10:43102350 [GRCh38] Chr10:43597798 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1252C>T (p.Arg418Ter) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001908987]|RET-related condition [RCV003984140] | Chr10:43109219 [GRCh38] Chr10:43604667 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.2623T>G (p.Leu875Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002258350]|Hirschsprung disease, susceptibility to, 1 [RCV003464359]|Multiple endocrine neoplasia, type 2 [RCV002003308] | Chr10:43120096 [GRCh38] Chr10:43615544 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2754G>A (p.Met918Ile) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001967515] | Chr10:43121969 [GRCh38] Chr10:43617417 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2237T>C (p.Leu746Pro) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001892821]|not provided [RCV002267128] | Chr10:43116684 [GRCh38] Chr10:43612132 [GRCh37] Chr10:10q11.21 |
uncertain significance |
GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4 | copy number gain | Mosaic supernumerary isodicentric chromosome 10 [RCV001825164] | Chr10:135655..47688677 [GRCh37] Chr10:10p15.3-q11.22 |
not provided |
NM_020975.6(RET):c.3007A>C (p.Lys1003Gln) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002023613] | Chr10:43124950 [GRCh38] Chr10:43620398 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1732A>G (p.Ile578Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001894965] | Chr10:43112936 [GRCh38] Chr10:43608384 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.524G>A (p.Arg175His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002343890]|Multiple endocrine neoplasia, type 2 [RCV002044526] | Chr10:43102528 [GRCh38] Chr10:43597976 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1132G>A (p.Asp378Asn) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002003646] | Chr10:43109099 [GRCh38] Chr10:43604547 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1315C>T (p.Gln439Ter) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002007525] | Chr10:43111258 [GRCh38] Chr10:43606706 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.1037T>G (p.Phe346Cys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001913975] | Chr10:43106545 [GRCh38] Chr10:43601993 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.964G>T (p.Asp322Tyr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002024092] | Chr10:43106472 [GRCh38] Chr10:43601920 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.274A>G (p.Thr92Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003303592]|Multiple endocrine neoplasia, type 2 [RCV001984283]|not provided [RCV003107936] | Chr10:43100659 [GRCh38] Chr10:43596107 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.125T>C (p.Val42Ala) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002022401] | Chr10:43100510 [GRCh38] Chr10:43595958 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3278A>G (p.Asp1093Gly) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV003471051]|Multiple endocrine neoplasia, type 2 [RCV001948016] | Chr10:43128202 [GRCh38] Chr10:43623650 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.43_44insGGC (p.Leu14_Leu15insTrp) | insertion | Multiple endocrine neoplasia, type 2 [RCV001908345] | Chr10:43077301..43077302 [GRCh38] Chr10:43572749..43572750 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.582G>C (p.Gln194His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003161167]|Multiple endocrine neoplasia, type 2 [RCV002004299] | Chr10:43102586 [GRCh38] Chr10:43598034 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NC_000010.10:g.(?_43600390)_(43623725_?)dup | duplication | Multiple endocrine neoplasia, type 2 [RCV001912948] | Chr10:43600390..43623725 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1905C>T (p.Arg635=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001910662] | Chr10:43114505 [GRCh38] Chr10:43609953 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2344G>A (p.Val782Ile) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001928330] | Chr10:43118432 [GRCh38] Chr10:43613880 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NC_000010.11:g.43126578_43126586del | deletion | Multiple endocrine neoplasia, type 2 [RCV001964913] | Chr10:43126574..43126582 [GRCh38] Chr10:43622022..43622030 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1577T>C (p.Leu526Pro) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001872800] | Chr10:43112153 [GRCh38] Chr10:43607601 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.206G>A (p.Gly69Asp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001968569] | Chr10:43100591 [GRCh38] Chr10:43596039 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.371A>G (p.Lys124Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001894895] | Chr10:43102375 [GRCh38] Chr10:43597823 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3122T>C (p.Val1041Ala) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001928395] | Chr10:43126657 [GRCh38] Chr10:43622105 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1978T>C (p.Tyr660His) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001893754] | Chr10:43114578 [GRCh38] Chr10:43610026 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.14C>T (p.Thr5Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002388990]|Multiple endocrine neoplasia, type 2 [RCV002003551] | Chr10:43077272 [GRCh38] Chr10:43572720 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2263G>A (p.Val755Met) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001870792] | Chr10:43116710 [GRCh38] Chr10:43612158 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1433G>A (p.Cys478Tyr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002389005]|Multiple endocrine neoplasia, type 2 [RCV001986833] | Chr10:43111376 [GRCh38] Chr10:43606824 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1757T>A (p.Leu586His) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001927795] | Chr10:43112961 [GRCh38] Chr10:43608409 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1275C>G (p.Val425=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002449595]|Multiple endocrine neoplasia, type 2 [RCV001964555] | Chr10:43111218 [GRCh38] Chr10:43606666 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.867+3G>A | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002370352]|Multiple endocrine neoplasia, type 2 [RCV002041494] | Chr10:43105196 [GRCh38] Chr10:43600644 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1420C>G (p.Arg474Gly) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002023472] | Chr10:43111363 [GRCh38] Chr10:43606811 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1405G>T (p.Asp469Tyr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002039809] | Chr10:43111348 [GRCh38] Chr10:43606796 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3298A>G (p.Met1100Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002324512]|Multiple endocrine neoplasia, type 2 [RCV002036996] | Chr10:43128222 [GRCh38] Chr10:43623670 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.699G>T (p.Gln233His) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001887499] | Chr10:43105025 [GRCh38] Chr10:43600473 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2464G>C (p.Val822Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002449475]|Multiple endocrine neoplasia, type 2 [RCV001867194] | Chr10:43119602 [GRCh38] Chr10:43615050 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.34C>G (p.Arg12Gly) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002049372] | Chr10:43077292 [GRCh38] Chr10:43572740 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.372G>C (p.Lys124Asn) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001955747] | Chr10:43102376 [GRCh38] Chr10:43597824 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1928T>C (p.Leu643Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003355701]|Multiple endocrine neoplasia, type 2 [RCV001980044] | Chr10:43114528 [GRCh38] Chr10:43609976 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1339G>A (p.Ala447Thr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002038939] | Chr10:43111282 [GRCh38] Chr10:43606730 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1993C>T (p.His665Tyr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001944610] | Chr10:43114593 [GRCh38] Chr10:43610041 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3040-2A>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001961621] | Chr10:43126573 [GRCh38] Chr10:43622021 [GRCh37] Chr10:10q11.21 |
likely pathogenic |
NM_020975.6(RET):c.2967G>T (p.Lys989Asn) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001978431] | Chr10:43124910 [GRCh38] Chr10:43620358 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1493C>G (p.Ala498Gly) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002020176] | Chr10:43111436 [GRCh38] Chr10:43606884 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1879+3G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002001277] | Chr10:43113678 [GRCh38] Chr10:43609126 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2070C>A (p.Ser690=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002016370] | Chr10:43114670 [GRCh38] Chr10:43610118 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.959C>G (p.Pro320Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001944076] | Chr10:43106467 [GRCh38] Chr10:43601915 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3217_3218dup (p.Ser1073fs) | microsatellite | Hereditary cancer-predisposing syndrome [RCV002324360]|Multiple endocrine neoplasia, type 2 [RCV001944372] | Chr10:43128135..43128136 [GRCh38] Chr10:43623583..43623584 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1066C>A (p.Leu356Met) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001974412] | Chr10:43109033 [GRCh38] Chr10:43604481 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2608-16C>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001962570] | Chr10:43120065 [GRCh38] Chr10:43615513 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.2939+3G>C | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002441195]|Multiple endocrine neoplasia, type 2 [RCV002025999] | Chr10:43123811 [GRCh38] Chr10:43619259 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2802-7T>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001919671] | Chr10:43123664 [GRCh38] Chr10:43619112 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2705A>C (p.Glu902Ala) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001937357] | Chr10:43120178 [GRCh38] Chr10:43615626 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1264-3T>C | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003167360]|Multiple endocrine neoplasia, type 2 [RCV001941152] | Chr10:43111204 [GRCh38] Chr10:43606652 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3265A>G (p.Arg1089Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002449446]|Multiple endocrine neoplasia, type 2 [RCV002037362] | Chr10:43128189 [GRCh38] Chr10:43623637 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1000T>C (p.Trp334Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003289381]|Multiple endocrine neoplasia, type 2 [RCV002035857] | Chr10:43106508 [GRCh38] Chr10:43601956 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3188-3T>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001885488] | Chr10:43128109 [GRCh38] Chr10:43623557 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.451A>G (p.Asn151Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002331604]|Hirschsprung disease, susceptibility to, 1 [RCV003464379]|Multiple endocrine neoplasia, type 2 [RCV002020140]|not provided [RCV003313260] | Chr10:43102455 [GRCh38] Chr10:43597903 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3219T>A (p.Ser1073Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001886982] | Chr10:43128143 [GRCh38] Chr10:43623591 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3094G>T (p.Gly1032Cys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002036208] | Chr10:43126629 [GRCh38] Chr10:43622077 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1464C>A (p.Thr488=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003303300]|Multiple endocrine neoplasia, type 2 [RCV001887049] | Chr10:43111407 [GRCh38] Chr10:43606855 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1915G>T (p.Ala639Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001979626] | Chr10:43114515 [GRCh38] Chr10:43609963 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.44TGC[7] (p.Leu19_Pro20insLeuLeu) | microsatellite | Hereditary cancer-predisposing syndrome [RCV002343924]|Multiple endocrine neoplasia, type 2 [RCV001962282] | Chr10:43077301..43077302 [GRCh38] Chr10:43572749..43572750 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.569TGC[1] (p.Leu191del) | microsatellite | Multiple endocrine neoplasia, type 2 [RCV001918926] | Chr10:43102572..43102574 [GRCh38] Chr10:43598020..43598022 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.613A>T (p.Arg205Trp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001943042] | Chr10:43102617 [GRCh38] Chr10:43598065 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.683C>A (p.Ala228Asp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001924109] | Chr10:43105009 [GRCh38] Chr10:43600457 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.100G>A (p.Asp34Asn) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001934739] | Chr10:43100485 [GRCh38] Chr10:43595933 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1624G>A (p.Glu542Lys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001916480] | Chr10:43112200 [GRCh38] Chr10:43607648 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.400G>A (p.Glu134Lys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002028280] | Chr10:43102404 [GRCh38] Chr10:43597852 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.179C>T (p.Pro60Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002407167]|Multiple endocrine neoplasia, type 2 [RCV002014565] | Chr10:43100564 [GRCh38] Chr10:43596012 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2480T>C (p.Leu827Pro) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV002486763]|Hirschsprung disease, susceptibility to, 1 [RCV003464399]|Multiple endocrine neoplasia, type 2 [RCV002031063] | Chr10:43119618 [GRCh38] Chr10:43615066 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1655C>T (p.Thr552Ile) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001878881] | Chr10:43112859 [GRCh38] Chr10:43608307 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2372A>G (p.Tyr791Cys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002458927]|Multiple endocrine neoplasia, type 2 [RCV001976647] | Chr10:43118460 [GRCh38] Chr10:43613908 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2444T>G (p.Phe815Cys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001881713] | Chr10:43119582 [GRCh38] Chr10:43615030 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2519A>C (p.His840Pro) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001866298] | Chr10:43119657 [GRCh38] Chr10:43615105 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.41T>C (p.Leu14Pro) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001975787] | Chr10:43077299 [GRCh38] Chr10:43572747 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.394C>T (p.Leu132Phe) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003161290]|Multiple endocrine neoplasia, type 2 [RCV002031113] | Chr10:43102398 [GRCh38] Chr10:43597846 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.350C>G (p.Pro117Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001991319] | Chr10:43102354 [GRCh38] Chr10:43597802 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3175A>C (p.Asn1059His) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001975712] | Chr10:43126710 [GRCh38] Chr10:43622158 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2221G>A (p.Ala741Thr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001930271] | Chr10:43116668 [GRCh38] Chr10:43612116 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1175A>G (p.His392Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002028832] | Chr10:43109142 [GRCh38] Chr10:43604590 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.700C>T (p.Arg234Trp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002031720] | Chr10:43105026 [GRCh38] Chr10:43600474 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1207C>T (p.His403Tyr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002346332]|Multiple endocrine neoplasia, type 2 [RCV002032304] | Chr10:43109174 [GRCh38] Chr10:43604622 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.59C>T (p.Pro20Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002012141] | Chr10:43077317 [GRCh38] Chr10:43572765 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3146C>T (p.Pro1049Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001918339] | Chr10:43126681 [GRCh38] Chr10:43622129 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1521A>G (p.Ser507=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002388928]|Multiple endocrine neoplasia, type 2 [RCV002014761] | Chr10:43111464 [GRCh38] Chr10:43606912 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.320A>G (p.Glu107Gly) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001974620] | Chr10:43100705 [GRCh38] Chr10:43596153 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.614G>T (p.Arg205Met) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001934310] | Chr10:43102618 [GRCh38] Chr10:43598066 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3155T>C (p.Leu1052Pro) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002030352] | Chr10:43126690 [GRCh38] Chr10:43622138 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3226C>T (p.Pro1076Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001881327] | Chr10:43128150 [GRCh38] Chr10:43623598 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2686T>A (p.Ser896Thr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001995315] | Chr10:43120159 [GRCh38] Chr10:43615607 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1982A>G (p.His661Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001869938] | Chr10:43114582 [GRCh38] Chr10:43610030 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.20G>T (p.Gly7Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001916021] | Chr10:43077278 [GRCh38] Chr10:43572726 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2076C>G (p.Ala692=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001880840] | Chr10:43114676 [GRCh38] Chr10:43610124 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.592C>T (p.Pro198Ser) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV002484925]|Multiple endocrine neoplasia, type 2 [RCV001994251] | Chr10:43102596 [GRCh38] Chr10:43598044 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1846G>A (p.Glu616Lys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001877157] | Chr10:43113642 [GRCh38] Chr10:43609090 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1878G>C (p.Gln626His) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001901332] | Chr10:43113674 [GRCh38] Chr10:43609122 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.795G>C (p.Glu265Asp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002016680] | Chr10:43105121 [GRCh38] Chr10:43600569 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.232A>C (p.Thr78Pro) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001974930] | Chr10:43100617 [GRCh38] Chr10:43596065 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3166T>A (p.Trp1056Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001990871] | Chr10:43126701 [GRCh38] Chr10:43622149 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1991C>T (p.Ala664Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001992110] | Chr10:43114591 [GRCh38] Chr10:43610039 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2802A>T (p.Val934=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001882088] | Chr10:43123671 [GRCh38] Chr10:43619119 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.588G>C (p.Leu196Phe) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002256884]|Multiple endocrine neoplasia, type 2 [RCV002010146] | Chr10:43102592 [GRCh38] Chr10:43598040 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1486G>A (p.Ala496Thr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001900203] | Chr10:43111429 [GRCh38] Chr10:43606877 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3180A>C (p.Lys1060Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002324313]|Multiple endocrine neoplasia, type 2 [RCV001937768] | Chr10:43126715 [GRCh38] Chr10:43622163 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.925G>A (p.Glu309Lys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002014243] | Chr10:43106433 [GRCh38] Chr10:43601881 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2653G>T (p.Gly885Trp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001883793] | Chr10:43120126 [GRCh38] Chr10:43615574 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1649-17C>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002018817] | Chr10:43112836 [GRCh38] Chr10:43608284 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2427C>A (p.Tyr809Ter) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001906929] | Chr10:43119565 [GRCh38] Chr10:43615013 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.1038C>G (p.Phe346Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002026964] | Chr10:43106546 [GRCh38] Chr10:43601994 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.44T>C (p.Leu15Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001933804] | Chr10:43077302 [GRCh38] Chr10:43572750 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2267C>A (p.Ala756Asp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001937906] | Chr10:43116714 [GRCh38] Chr10:43612162 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2503T>G (p.Ser835Ala) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001972885] | Chr10:43119641 [GRCh38] Chr10:43615089 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3046T>A (p.Leu1016Met) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001991219] | Chr10:43126581 [GRCh38] Chr10:43622029 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1638A>T (p.Gly546=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002017719] | Chr10:43112214 [GRCh38] Chr10:43607662 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2501A>G (p.Asn834Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001867426] | Chr10:43119639 [GRCh38] Chr10:43615087 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2136+18G>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001919388] | Chr10:43114754 [GRCh38] Chr10:43610202 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1528G>A (p.Ala510Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002398110]|Multiple endocrine neoplasia, type 2 [RCV002048384] | Chr10:43112104 [GRCh38] Chr10:43607552 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2958A>G (p.Gln986=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002441167]|Multiple endocrine neoplasia, type 2 [RCV001977032] | Chr10:43124901 [GRCh38] Chr10:43620349 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.3211G>A (p.Gly1071Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002449503]|Multiple endocrine neoplasia, type 2 [RCV001867626] | Chr10:43128135 [GRCh38] Chr10:43623583 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2692G>C (p.Asp898His) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001881677] | Chr10:43120165 [GRCh38] Chr10:43615613 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2107C>G (p.Gln703Glu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002017312] | Chr10:43114707 [GRCh38] Chr10:43610155 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2286G>T (p.Glu762Asp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002017866] | Chr10:43118374 [GRCh38] Chr10:43613822 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2998G>A (p.Asp1000Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003161285]|Multiple endocrine neoplasia, type 2 [RCV002046075] | Chr10:43124941 [GRCh38] Chr10:43620389 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1660A>G (p.Asn554Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003365520]|Multiple endocrine neoplasia, type 2 [RCV001919770] | Chr10:43112864 [GRCh38] Chr10:43608312 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1553C>T (p.Ser518Phe) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002028830] | Chr10:43112129 [GRCh38] Chr10:43607577 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2801+3A>G | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002440989]|Multiple endocrine neoplasia, type 2 [RCV001919849] | Chr10:43122019 [GRCh38] Chr10:43617467 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1829A>G (p.Asn610Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002407107]|Hirschsprung disease, susceptibility to, 1 [RCV002503651]|Multiple endocrine neoplasia, type 2 [RCV001952515] | Chr10:43113625 [GRCh38] Chr10:43609073 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2090T>C (p.Leu697Pro) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002009728]|not specified [RCV002246636] | Chr10:43114690 [GRCh38] Chr10:43610138 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2479C>G (p.Leu827Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001994353] | Chr10:43119617 [GRCh38] Chr10:43615065 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1228C>T (p.Leu410Phe) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002361122]|Multiple endocrine neoplasia, type 2 [RCV001937590] | Chr10:43109195 [GRCh38] Chr10:43604643 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.659G>T (p.Ser220Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002361155]|Multiple endocrine neoplasia, type 2 [RCV001897414] | Chr10:43104985 [GRCh38] Chr10:43600433 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1785G>T (p.Glu595Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002407039]|Multiple endocrine neoplasia, type 2 [RCV001901361] | Chr10:43113581 [GRCh38] Chr10:43609029 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.649G>A (p.Ala217Thr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001879701] | Chr10:43104975 [GRCh38] Chr10:43600423 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2468G>A (p.Gly823Glu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001906762] | Chr10:43119606 [GRCh38] Chr10:43615054 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1328A>T (p.His443Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001904418] | Chr10:43111271 [GRCh38] Chr10:43606719 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1581G>C (p.Glu527Asp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002019236] | Chr10:43112157 [GRCh38] Chr10:43607605 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3121G>T (p.Val1041Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002017528] | Chr10:43126656 [GRCh38] Chr10:43622104 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1295_1296delinsGG (p.Ala432Gly) | indel | Multiple endocrine neoplasia, type 2 [RCV001980489] | Chr10:43111238..43111239 [GRCh38] Chr10:43606686..43606687 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2141A>C (p.Asp714Ala) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002047894] | Chr10:43116588 [GRCh38] Chr10:43612036 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.35G>A (p.Arg12His) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002014081] | Chr10:43077293 [GRCh38] Chr10:43572741 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2096C>T (p.Ser699Phe) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001880920] | Chr10:43114696 [GRCh38] Chr10:43610144 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2210A>G (p.Lys737Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002016975] | Chr10:43116657 [GRCh38] Chr10:43612105 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2566T>G (p.Trp856Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002425257]|Hirschsprung disease, susceptibility to, 1 [RCV003464245]|Multiple endocrine neoplasia, type 2 [RCV001923834] | Chr10:43119704 [GRCh38] Chr10:43615152 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1684A>T (p.Thr562Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001997182] | Chr10:43112888 [GRCh38] Chr10:43608336 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.682G>A (p.Ala228Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003164157]|Multiple endocrine neoplasia, type 2 [RCV001905352] | Chr10:43105008 [GRCh38] Chr10:43600456 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3169A>G (p.Ile1057Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001996692] | Chr10:43126704 [GRCh38] Chr10:43622152 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.815T>C (p.Phe272Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002423021]|Multiple endocrine neoplasia, type 2 [RCV001938125] | Chr10:43105141 [GRCh38] Chr10:43600589 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1444C>T (p.His482Tyr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002388764]|Multiple endocrine neoplasia, type 2 [RCV001924742] | Chr10:43111387 [GRCh38] Chr10:43606835 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.161A>G (p.His54Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002388812]|Multiple endocrine neoplasia, type 2 [RCV001906895]|not provided [RCV003442949] | Chr10:43100546 [GRCh38] Chr10:43595994 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.565C>G (p.Arg189Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002343970]|Multiple endocrine neoplasia, type 2 [RCV001884046] | Chr10:43102569 [GRCh38] Chr10:43598017 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.623A>C (p.Glu208Ala) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001979796] | Chr10:43102627 [GRCh38] Chr10:43598075 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2419G>A (p.Ala807Thr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001924192] | Chr10:43119557 [GRCh38] Chr10:43615005 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2186C>T (p.Thr729Ile) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002036538] | Chr10:43116633 [GRCh38] Chr10:43612081 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.317G>A (p.Trp106Ter) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001906653] | Chr10:43100702 [GRCh38] Chr10:43596150 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.265C>A (p.Gln89Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002458735]|Multiple endocrine neoplasia, type 2 [RCV001878115]|not provided [RCV003442941] | Chr10:43100650 [GRCh38] Chr10:43596098 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3183C>G (p.Leu1061=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002031447] | Chr10:43126718 [GRCh38] Chr10:43622166 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.948C>T (p.Ser316=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002036082] | Chr10:43106456 [GRCh38] Chr10:43601904 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1769T>C (p.Ile590Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002407296]|Multiple endocrine neoplasia, type 2 [RCV002011543] | Chr10:43113565 [GRCh38] Chr10:43609013 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1758C>T (p.Leu586=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001991690] | Chr10:43112962 [GRCh38] Chr10:43608410 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.535A>G (p.Asn179Asp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001990108] | Chr10:43102539 [GRCh38] Chr10:43597987 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.376T>C (p.Phe126Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002047968]|Ovarian cancer [RCV003154058] | Chr10:43102380 [GRCh38] Chr10:43597828 [GRCh37] Chr10:10q11.21 |
benign|uncertain significance |
NM_020975.6(RET):c.1792G>A (p.Glu598Lys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001954697] | Chr10:43113588 [GRCh38] Chr10:43609036 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.132G>C (p.Gln44His) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002031622] | Chr10:43100517 [GRCh38] Chr10:43595965 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.561G>C (p.Gln187His) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002011475] | Chr10:43102565 [GRCh38] Chr10:43598013 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2558C>T (p.Ser853Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002441063]|Multiple endocrine neoplasia, type 2 [RCV001931529] | Chr10:43119696 [GRCh38] Chr10:43615144 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1277G>T (p.Cys426Phe) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001904196] | Chr10:43111220 [GRCh38] Chr10:43606668 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.74-2A>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002010657] | Chr10:43100457 [GRCh38] Chr10:43595905 [GRCh37] Chr10:10q11.21 |
likely pathogenic |
NM_020975.6(RET):c.715C>G (p.Leu239Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003170257]|Multiple endocrine neoplasia, type 2 [RCV001973321] | Chr10:43105041 [GRCh38] Chr10:43600489 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3077C>T (p.Ser1026Phe) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001899293] | Chr10:43126612 [GRCh38] Chr10:43622060 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.69C>T (p.Gly23=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001881409] | Chr10:43077327 [GRCh38] Chr10:43572775 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3172G>A (p.Glu1058Lys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001867472] | Chr10:43126707 [GRCh38] Chr10:43622155 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2992T>G (p.Phe998Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001921752] | Chr10:43124935 [GRCh38] Chr10:43620383 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1283A>G (p.Glu428Gly) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001979250] | Chr10:43111226 [GRCh38] Chr10:43606674 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1613C>G (p.Thr538Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002388888]|Multiple endocrine neoplasia, type 2 [RCV001955201] | Chr10:43112189 [GRCh38] Chr10:43607637 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1783G>C (p.Glu595Gln) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV001935367] | Chr10:43113579 [GRCh38] Chr10:43609027 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.205G>A (p.Gly69Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002010267] | Chr10:43100590 [GRCh38] Chr10:43596038 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1516G>A (p.Gly506Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002049381] | Chr10:43111459 [GRCh38] Chr10:43606907 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2850C>T (p.Asn950=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003307954]|Multiple endocrine neoplasia, type 2 [RCV002108093] | Chr10:43123719 [GRCh38] Chr10:43619167 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.868-19C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002168230] | Chr10:43106357 [GRCh38] Chr10:43601805 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.859C>A (p.Arg287=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002145004] | Chr10:43105185 [GRCh38] Chr10:43600633 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2832C>T (p.Ile944=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002434500]|Multiple endocrine neoplasia, type 2 [RCV002109879]|not provided [RCV003418381] | Chr10:43123701 [GRCh38] Chr10:43619149 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3188-6T>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002076427] | Chr10:43128106 [GRCh38] Chr10:43623554 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.868-18G>T | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV002500395]|Multiple endocrine neoplasia, type 2 [RCV002185972] | Chr10:43106358 [GRCh38] Chr10:43601806 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2877G>T (p.Arg959=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002166244] | Chr10:43123746 [GRCh38] Chr10:43619194 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1416C>T (p.Ala472=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002391308]|Multiple endocrine neoplasia, type 2 [RCV002124297] | Chr10:43111359 [GRCh38] Chr10:43606807 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2445C>T (p.Phe815=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002443183]|Multiple endocrine neoplasia, type 2 [RCV002126838] | Chr10:43119583 [GRCh38] Chr10:43615031 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1879+18G>A | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV002486996]|Multiple endocrine neoplasia, type 2 [RCV002188903] | Chr10:43113693 [GRCh38] Chr10:43609141 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.735G>A (p.Val245=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002206096] | Chr10:43105061 [GRCh38] Chr10:43600509 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2137-19T>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002074569] | Chr10:43116565 [GRCh38] Chr10:43612013 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2284+7G>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002104534] | Chr10:43116738 [GRCh38] Chr10:43612186 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.975C>G (p.Ala325=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002166680] | Chr10:43106483 [GRCh38] Chr10:43601931 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2393-6C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002166882] | Chr10:43119525 [GRCh38] Chr10:43614973 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2393-19C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002107414] | Chr10:43119512 [GRCh38] Chr10:43614960 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.537C>T (p.Asn179=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002126153] | Chr10:43102541 [GRCh38] Chr10:43597989 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1230C>G (p.Leu410=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002361428]|Hirschsprung disease, susceptibility to, 1 [RCV002494029]|Multiple endocrine neoplasia, type 2 [RCV002169435]|not provided [RCV003738129] | Chr10:43109197 [GRCh38] Chr10:43604645 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.73+8C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002169023] | Chr10:43077339 [GRCh38] Chr10:43572787 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2137-794T>C | single nucleotide variant | not provided [RCV002211145] | Chr10:43115790 [GRCh38] Chr10:43611238 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.2137-396G>A | single nucleotide variant | not provided [RCV002211146] | Chr10:43116188 [GRCh38] Chr10:43611636 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.2641C>T (p.Leu881=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002185373] | Chr10:43120114 [GRCh38] Chr10:43615562 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1488C>T (p.Ala496=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002125213] | Chr10:43111431 [GRCh38] Chr10:43606879 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2334C>G (p.Val778=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002454454]|Multiple endocrine neoplasia, type 2 [RCV002109407] | Chr10:43118422 [GRCh38] Chr10:43613870 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.102T>C (p.Asp34=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002091376] | Chr10:43100487 [GRCh38] Chr10:43595935 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2939+13T>C | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV002500007]|Multiple endocrine neoplasia, type 2 [RCV002129466] | Chr10:43123821 [GRCh38] Chr10:43619269 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2901C>T (p.Gly967=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002434559]|Multiple endocrine neoplasia, type 2 [RCV002126204] | Chr10:43123770 [GRCh38] Chr10:43619218 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3162C>T (p.Ser1054=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003161506]|Multiple endocrine neoplasia, type 2 [RCV002107947] | Chr10:43126697 [GRCh38] Chr10:43622145 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2844G>A (p.Gly948=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003161521]|Multiple endocrine neoplasia, type 2 [RCV002127719] | Chr10:43123713 [GRCh38] Chr10:43619161 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1649-11G>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002207980] | Chr10:43112842 [GRCh38] Chr10:43608290 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1880-15C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002192925] | Chr10:43114465 [GRCh38] Chr10:43609913 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1648+15C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002107843] | Chr10:43112239 [GRCh38] Chr10:43607687 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2802-20_2802-19delinsTT | indel | Multiple endocrine neoplasia, type 2 [RCV002192996] | Chr10:43123651..43123652 [GRCh38] Chr10:43619099..43619100 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1880-12C>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002128478] | Chr10:43114468 [GRCh38] Chr10:43609916 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2137-13A>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002148201] | Chr10:43116571 [GRCh38] Chr10:43612019 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1760-20T>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002148242] | Chr10:43113536 [GRCh38] Chr10:43608984 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2940-5A>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002086499] | Chr10:43124878 [GRCh38] Chr10:43620326 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.868-11G>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002146776] | Chr10:43106365 [GRCh38] Chr10:43601813 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2922C>T (p.Asp974=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002091823] | Chr10:43123791 [GRCh38] Chr10:43619239 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1880-16C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002209035] | Chr10:43114464 [GRCh38] Chr10:43609912 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.2393-12C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002192696] | Chr10:43119519 [GRCh38] Chr10:43614967 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.338-25_338-17del | deletion | Multiple endocrine neoplasia, type 2 [RCV002185002] | Chr10:43102315..43102323 [GRCh38] Chr10:43597763..43597771 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.807G>A (p.Ala269=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002104938] | Chr10:43105133 [GRCh38] Chr10:43600581 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1264-15C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002104445] | Chr10:43111192 [GRCh38] Chr10:43606640 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.74-12_74-5del | deletion | Multiple endocrine neoplasia, type 2 [RCV002110456] | Chr10:43100440..43100447 [GRCh38] Chr10:43595888..43595895 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1851G>A (p.Lys617=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002409517]|Multiple endocrine neoplasia, type 2 [RCV002127181] | Chr10:43113647 [GRCh38] Chr10:43609095 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1522+14C>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002109145] | Chr10:43111479 [GRCh38] Chr10:43606927 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2608-19G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002167055] | Chr10:43120062 [GRCh38] Chr10:43615510 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1879+15G>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002168803] | Chr10:43113690 [GRCh38] Chr10:43609138 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3188-19G>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002089649] | Chr10:43128093 [GRCh38] Chr10:43623541 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2111T>C (p.Val704Ala) | single nucleotide variant | not provided [RCV002223636] | Chr10:43114711 [GRCh38] Chr10:43610159 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2433C>T (p.Ser811=) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV002496125]|Multiple endocrine neoplasia, type 2 [RCV002191954] | Chr10:43119571 [GRCh38] Chr10:43615019 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1879+10T>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002145071] | Chr10:43113685 [GRCh38] Chr10:43609133 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2136+400T>C | single nucleotide variant | not provided [RCV002223358] | Chr10:43115136 [GRCh38] Chr10:43610584 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1880-18C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002208038] | Chr10:43114462 [GRCh38] Chr10:43609910 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2393-17C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002087373] | Chr10:43119514 [GRCh38] Chr10:43614962 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1263+19C>T | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV002500351]|Multiple endocrine neoplasia, type 2 [RCV002166335] | Chr10:43109249 [GRCh38] Chr10:43604697 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2731-13A>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002088703] | Chr10:43121933 [GRCh38] Chr10:43617381 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3040-4C>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002147967] | Chr10:43126571 [GRCh38] Chr10:43622019 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2136+14C>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002167497] | Chr10:43114750 [GRCh38] Chr10:43610198 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2137-7A>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002210380] | Chr10:43116577 [GRCh38] Chr10:43612025 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.921A>T (p.Ser307=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002145423] | Chr10:43106429 [GRCh38] Chr10:43601877 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3187+12C>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002144808] | Chr10:43126734 [GRCh38] Chr10:43622182 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1086C>G (p.Leu362=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002208315] | Chr10:43109053 [GRCh38] Chr10:43604501 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2392+17G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002104853] | Chr10:43118497 [GRCh38] Chr10:43613945 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1522+20A>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002105781]|not specified [RCV002268616] | Chr10:43111485 [GRCh38] Chr10:43606933 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3040-19G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002075248] | Chr10:43126556 [GRCh38] Chr10:43622004 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1422G>T (p.Arg474=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002088652] | Chr10:43111365 [GRCh38] Chr10:43606813 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.639C>T (p.Pro213=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003161444]|Multiple endocrine neoplasia, type 2 [RCV002085362] | Chr10:43104965 [GRCh38] Chr10:43600413 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.828C>T (p.Val276=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002427550]|Multiple endocrine neoplasia, type 2 [RCV002170086] | Chr10:43105154 [GRCh38] Chr10:43600602 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1522+18G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002091627] | Chr10:43111483 [GRCh38] Chr10:43606931 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2284+7G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002196112] | Chr10:43116738 [GRCh38] Chr10:43612186 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2608-19G>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002173685] | Chr10:43120062 [GRCh38] Chr10:43615510 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1879+17del | deletion | Multiple endocrine neoplasia, type 2 [RCV002078409] | Chr10:43113691 [GRCh38] Chr10:43609139 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1522+13T>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002145863] | Chr10:43111478 [GRCh38] Chr10:43606926 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2731-18A>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002213467] | Chr10:43121928 [GRCh38] Chr10:43617376 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.868-4del | deletion | Multiple endocrine neoplasia, type 2 [RCV002080751] | Chr10:43106372 [GRCh38] Chr10:43601820 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.338-10C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002106355] | Chr10:43102332 [GRCh38] Chr10:43597780 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1880-13C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002094377] | Chr10:43114467 [GRCh38] Chr10:43609915 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1879+18G>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002211592] | Chr10:43113693 [GRCh38] Chr10:43609141 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2802-17C>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002147889] | Chr10:43123654 [GRCh38] Chr10:43619102 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.567C>T (p.Arg189=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002153184] | Chr10:43102571 [GRCh38] Chr10:43598019 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3040-17C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002076067] | Chr10:43126558 [GRCh38] Chr10:43622006 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.625+7G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002131227] | Chr10:43102636 [GRCh38] Chr10:43598084 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3138C>G (p.Ala1046=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002172995] | Chr10:43126673 [GRCh38] Chr10:43622121 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1759+10G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002212049] | Chr10:43112973 [GRCh38] Chr10:43608421 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2137-16C>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002112830] | Chr10:43116568 [GRCh38] Chr10:43612016 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2137-18C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002128032] | Chr10:43116566 [GRCh38] Chr10:43612014 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2730+12C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002133021]|not specified [RCV002268623] | Chr10:43120215 [GRCh38] Chr10:43615663 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.626-19C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002132822] | Chr10:43104933 [GRCh38] Chr10:43600381 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2608-5C>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002150147] | Chr10:43120076 [GRCh38] Chr10:43615524 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3040-8T>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002116183] | Chr10:43126567 [GRCh38] Chr10:43622015 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2393-7C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002094473] | Chr10:43119524 [GRCh38] Chr10:43614972 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1123C>T (p.Leu375=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002434526]|Multiple endocrine neoplasia, type 2 [RCV002152714] | Chr10:43109090 [GRCh38] Chr10:43604538 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1648+16G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002112098] | Chr10:43112240 [GRCh38] Chr10:43607688 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1380C>T (p.Asp460=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002382335]|Multiple endocrine neoplasia, type 2 [RCV002097424] | Chr10:43111323 [GRCh38] Chr10:43606771 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.480C>G (p.Leu160=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002337254]|Multiple endocrine neoplasia, type 2 [RCV002081060] | Chr10:43102484 [GRCh38] Chr10:43597932 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3040-13C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002085398] | Chr10:43126562 [GRCh38] Chr10:43622010 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2393-14C>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002071772] | Chr10:43119517 [GRCh38] Chr10:43614965 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1338T>C (p.Gly446=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002213224] | Chr10:43111281 [GRCh38] Chr10:43606729 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2136+11C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002079074] | Chr10:43114747 [GRCh38] Chr10:43610195 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.73+17G>T | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV002486878]|Multiple endocrine neoplasia, type 2 [RCV002096641] | Chr10:43077348 [GRCh38] Chr10:43572796 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1879+14G>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002189415] | Chr10:43113689 [GRCh38] Chr10:43609137 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.78A>T (p.Ala26=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002112981] | Chr10:43100463 [GRCh38] Chr10:43595911 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2718G>T (p.Val906=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002151581] | Chr10:43120191 [GRCh38] Chr10:43615639 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.626-17G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002212542] | Chr10:43104935 [GRCh38] Chr10:43600383 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.822G>T (p.Ala274=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002094579] | Chr10:43105148 [GRCh38] Chr10:43600596 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1707C>T (p.His569=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002398246]|Multiple endocrine neoplasia, type 2 [RCV002152207] | Chr10:43112911 [GRCh38] Chr10:43608359 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3270T>C (p.Tyr1090=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002167193] | Chr10:43128194 [GRCh38] Chr10:43623642 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.885G>T (p.Thr295=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002152755] | Chr10:43106393 [GRCh38] Chr10:43601841 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2136+437T>C | single nucleotide variant | not provided [RCV002211144] | Chr10:43115173 [GRCh38] Chr10:43610621 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.1760-18G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002115313] | Chr10:43113538 [GRCh38] Chr10:43608986 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3188-15T>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002089765] | Chr10:43128097 [GRCh38] Chr10:43623545 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1880-13C>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002089902] | Chr10:43114467 [GRCh38] Chr10:43609915 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1986G>A (p.Lys662=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002092803] | Chr10:43114586 [GRCh38] Chr10:43610034 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.618C>T (p.Leu206=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002352803]|Multiple endocrine neoplasia, type 2 [RCV002211860] | Chr10:43102622 [GRCh38] Chr10:43598070 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3187+20T>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002193539] | Chr10:43126742 [GRCh38] Chr10:43622190 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1523-12T>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002149858] | Chr10:43112087 [GRCh38] Chr10:43607535 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1064-14G>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002095861] | Chr10:43109017 [GRCh38] Chr10:43604465 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2550C>T (p.Asp850=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002454332]|Multiple endocrine neoplasia, type 2 [RCV002106943] | Chr10:43119688 [GRCh38] Chr10:43615136 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1221C>G (p.Thr407=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002196137] | Chr10:43109188 [GRCh38] Chr10:43604636 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1308C>T (p.Ile436=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003161494]|Multiple endocrine neoplasia, type 2 [RCV002111498] | Chr10:43111251 [GRCh38] Chr10:43606699 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.625+19G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002079619] | Chr10:43102648 [GRCh38] Chr10:43598096 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1879+20G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002114305] | Chr10:43113695 [GRCh38] Chr10:43609143 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1759+9G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002134407] | Chr10:43112972 [GRCh38] Chr10:43608420 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.73+12C>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002193210] | Chr10:43077343 [GRCh38] Chr10:43572791 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.868-11G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002113568] | Chr10:43106365 [GRCh38] Chr10:43601813 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3040-11C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002215572] | Chr10:43126564 [GRCh38] Chr10:43622012 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.867+15G>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002113035] | Chr10:43105208 [GRCh38] Chr10:43600656 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1239C>T (p.Ser413=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002094933] | Chr10:43109206 [GRCh38] Chr10:43604654 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2790G>C (p.Thr930=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002441254]|Multiple endocrine neoplasia, type 2 [RCV002171995] | Chr10:43122005 [GRCh38] Chr10:43617453 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1760-20T>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002195086] | Chr10:43113536 [GRCh38] Chr10:43608984 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2415G>A (p.Glu805=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003375585]|Multiple endocrine neoplasia, type 2 [RCV002149859] | Chr10:43119553 [GRCh38] Chr10:43615001 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2193A>G (p.Gly731=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002131385] | Chr10:43116640 [GRCh38] Chr10:43612088 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2608-20C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002212123] | Chr10:43120061 [GRCh38] Chr10:43615509 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2137-11T>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002174537] | Chr10:43116573 [GRCh38] Chr10:43612021 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1410C>G (p.Thr470=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002193860] | Chr10:43111353 [GRCh38] Chr10:43606801 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.381G>C (p.Leu127=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002150224] | Chr10:43102385 [GRCh38] Chr10:43597833 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.447C>T (p.Phe149=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003161539]|Multiple endocrine neoplasia, type 2 [RCV002150272] | Chr10:43102451 [GRCh38] Chr10:43597899 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.810C>A (p.Pro270=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002416455]|Hirschsprung disease, susceptibility to, 1 [RCV002486918]|Multiple endocrine neoplasia, type 2 [RCV002171137] | Chr10:43105136 [GRCh38] Chr10:43600584 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3187+14T>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002101520] | Chr10:43126736 [GRCh38] Chr10:43622184 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3000C>T (p.Asp1000=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002434587]|Multiple endocrine neoplasia, type 2 [RCV002203128] | Chr10:43124943 [GRCh38] Chr10:43620391 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2801+8T>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002178924] | Chr10:43122024 [GRCh38] Chr10:43617472 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2787C>T (p.Thr929=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002136968] | Chr10:43122002 [GRCh38] Chr10:43617450 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1760-13C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002117523] | Chr10:43113543 [GRCh38] Chr10:43608991 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2308C>T (p.Arg770Ter) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002197776] | Chr10:43118396 [GRCh38] Chr10:43613844 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2284+15C>T | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV002486910]|Multiple endocrine neoplasia, type 2 [RCV002137253] | Chr10:43116746 [GRCh38] Chr10:43612194 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1649-17C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002220312] | Chr10:43112836 [GRCh38] Chr10:43608284 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.810C>T (p.Pro270=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002423340]|Multiple endocrine neoplasia, type 2 [RCV002081192]|not provided [RCV003418369] | Chr10:43105136 [GRCh38] Chr10:43600584 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3187+15G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002083182] | Chr10:43126737 [GRCh38] Chr10:43622185 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2565C>T (p.Ala855=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002427558]|Multiple endocrine neoplasia, type 2 [RCV002177700] | Chr10:43119703 [GRCh38] Chr10:43615151 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1210C>T (p.Leu404=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002352919]|Multiple endocrine neoplasia, type 2 [RCV002141419] | Chr10:43109177 [GRCh38] Chr10:43604625 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2823G>A (p.Leu941=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002198455] | Chr10:43123692 [GRCh38] Chr10:43619140 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2688C>A (p.Ser896=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002204287] | Chr10:43120161 [GRCh38] Chr10:43615609 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1879+17C>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002120375] | Chr10:43113692 [GRCh38] Chr10:43609140 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1557T>C (p.Cys519=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002219602] | Chr10:43112133 [GRCh38] Chr10:43607581 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2731-8_2731-6del | deletion | Multiple endocrine neoplasia, type 2 [RCV002182135] | Chr10:43121938..43121940 [GRCh38] Chr10:43617386..43617388 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1648+20A>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002217764] | Chr10:43112244 [GRCh38] Chr10:43607692 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1264-17C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002155394] | Chr10:43111190 [GRCh38] Chr10:43606638 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2802-19G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002122996] | Chr10:43123652 [GRCh38] Chr10:43619100 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.1760-17G>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002142652] | Chr10:43113539 [GRCh38] Chr10:43608987 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2025C>T (p.Thr675=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002164784] | Chr10:43114625 [GRCh38] Chr10:43610073 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1515G>A (p.Glu505=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003161410]|Multiple endocrine neoplasia, type 2 [RCV002220329] | Chr10:43111458 [GRCh38] Chr10:43606906 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.625+11A>G | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV002498200]|Multiple endocrine neoplasia, type 2 [RCV002197754] | Chr10:43102640 [GRCh38] Chr10:43598088 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2268C>A (p.Ala756=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002216503] | Chr10:43116715 [GRCh38] Chr10:43612163 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2814T>C (p.Gly938=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002434570]|Multiple endocrine neoplasia, type 2 [RCV002154034] | Chr10:43123683 [GRCh38] Chr10:43619131 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2325G>A (p.Glu775=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002443145]|Multiple endocrine neoplasia, type 2 [RCV002220658] | Chr10:43118413 [GRCh38] Chr10:43613861 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1879+12del | deletion | Multiple endocrine neoplasia, type 2 [RCV002220679] | Chr10:43113686 [GRCh38] Chr10:43609134 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2285-16C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002218943] | Chr10:43118357 [GRCh38] Chr10:43613805 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2712C>A (p.Ser904=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002441284]|Multiple endocrine neoplasia, type 2 [RCV002200219] | Chr10:43120185 [GRCh38] Chr10:43615633 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1064-16G>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002179495] | Chr10:43109015 [GRCh38] Chr10:43604463 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3003C>T (p.Ile1001=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002434470]|Multiple endocrine neoplasia, type 2 [RCV002102521] | Chr10:43124946 [GRCh38] Chr10:43620394 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2817C>T (p.Val939=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002102566] | Chr10:43123686 [GRCh38] Chr10:43619134 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2940-13C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002160553] | Chr10:43124870 [GRCh38] Chr10:43620318 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1362G>T (p.Val454=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002202691] | Chr10:43111305 [GRCh38] Chr10:43606753 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2640C>T (p.Ile880=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002142288] | Chr10:43120113 [GRCh38] Chr10:43615561 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.921A>C (p.Ser307=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002099235] | Chr10:43106429 [GRCh38] Chr10:43601877 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2731-14C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002120765] | Chr10:43121932 [GRCh38] Chr10:43617380 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.201C>T (p.Arg67=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002160628] | Chr10:43100586 [GRCh38] Chr10:43596034 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.144G>T (p.Thr48=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002391273]|Multiple endocrine neoplasia, type 2 [RCV002162502] | Chr10:43100529 [GRCh38] Chr10:43595977 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.625+13C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002204634] | Chr10:43102642 [GRCh38] Chr10:43598090 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.330T>C (p.Ser110=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002177012] | Chr10:43100715 [GRCh38] Chr10:43596163 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.74-11_74-10dup | duplication | Multiple endocrine neoplasia, type 2 [RCV002161011] | Chr10:43100447..43100448 [GRCh38] Chr10:43595895..43595896 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.60G>A (p.Pro20=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002162957] | Chr10:43077318 [GRCh38] Chr10:43572766 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1759+19G>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002175462] | Chr10:43112982 [GRCh38] Chr10:43608430 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1620G>A (p.Arg540=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002158010] | Chr10:43112196 [GRCh38] Chr10:43607644 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2802-8C>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002220654] | Chr10:43123663 [GRCh38] Chr10:43619111 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1648+14A>G | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV002494187]|Multiple endocrine neoplasia, type 2 [RCV002100345] | Chr10:43112238 [GRCh38] Chr10:43607686 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2731-11C>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002137978] | Chr10:43121935 [GRCh38] Chr10:43617383 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2939+16C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002141225] | Chr10:43123824 [GRCh38] Chr10:43619272 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2058C>T (p.Ser686=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002181280] | Chr10:43114658 [GRCh38] Chr10:43610106 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3039+19T>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002084287] | Chr10:43125001 [GRCh38] Chr10:43620449 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.60G>C (p.Pro20=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002179932] | Chr10:43077318 [GRCh38] Chr10:43572766 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2802-17C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002200826] | Chr10:43123654 [GRCh38] Chr10:43619102 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3153C>A (p.Ala1051=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002162236] | Chr10:43126688 [GRCh38] Chr10:43622136 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2136+18G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002180080] | Chr10:43114754 [GRCh38] Chr10:43610202 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.951G>T (p.Thr317=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002372957]|Multiple endocrine neoplasia, type 2 [RCV002155444] | Chr10:43106459 [GRCh38] Chr10:43601907 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3187+9T>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002103208] | Chr10:43126731 [GRCh38] Chr10:43622179 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2040C>G (p.Ala680=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002216581] | Chr10:43114640 [GRCh38] Chr10:43610088 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2136+14C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002202979] | Chr10:43114750 [GRCh38] Chr10:43610198 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2607+19G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002159511] | Chr10:43119764 [GRCh38] Chr10:43615212 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1197G>T (p.Pro399=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003161626]|Multiple endocrine neoplasia, type 2 [RCV002143245] | Chr10:43109164 [GRCh38] Chr10:43604612 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2914A>C (p.Arg972=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002158072] | Chr10:43123783 [GRCh38] Chr10:43619231 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2393-18C>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002218935] | Chr10:43119513 [GRCh38] Chr10:43614961 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1264-12G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002220994] | Chr10:43111195 [GRCh38] Chr10:43606643 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3039+18A>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002183365] | Chr10:43125000 [GRCh38] Chr10:43620448 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.165C>G (p.Ala55=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002081842] | Chr10:43100550 [GRCh38] Chr10:43595998 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2730+13G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002219070] | Chr10:43120216 [GRCh38] Chr10:43615664 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2801+11del | deletion | Multiple endocrine neoplasia, type 2 [RCV002156519] | Chr10:43122025 [GRCh38] Chr10:43617473 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3187+12C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002200386] | Chr10:43126734 [GRCh38] Chr10:43622182 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1649-13G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002158634] | Chr10:43112840 [GRCh38] Chr10:43608288 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2034G>A (p.Arg678=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002160448] | Chr10:43114634 [GRCh38] Chr10:43610082 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1410C>T (p.Thr470=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002118556] | Chr10:43111353 [GRCh38] Chr10:43606801 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1035C>T (p.Ser345=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002120492] | Chr10:43106543 [GRCh38] Chr10:43601991 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2137-14C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002181592] | Chr10:43116570 [GRCh38] Chr10:43612018 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2137-17C>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002123868] | Chr10:43116567 [GRCh38] Chr10:43612015 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2637C>T (p.Asn879=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002454523]|Multiple endocrine neoplasia, type 2 [RCV002123894] | Chr10:43120110 [GRCh38] Chr10:43615558 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1880-8A>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002198882] | Chr10:43114472 [GRCh38] Chr10:43609920 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2802-4G>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002219679] | Chr10:43123667 [GRCh38] Chr10:43619115 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.337+17_337+28dup | duplication | Multiple endocrine neoplasia, type 2 [RCV002182100] | Chr10:43100734..43100735 [GRCh38] Chr10:43596182..43596183 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.619C>T (p.Leu207=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002158653] | Chr10:43102623 [GRCh38] Chr10:43598071 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1064-4G>T | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003161398]|Multiple endocrine neoplasia, type 2 [RCV002202866]|not specified [RCV002246670] | Chr10:43109027 [GRCh38] Chr10:43604475 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1674C>T (p.Cys558=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003365682]|Multiple endocrine neoplasia, type 2 [RCV002218105] | Chr10:43112878 [GRCh38] Chr10:43608326 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.2801+13G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002218106] | Chr10:43122029 [GRCh38] Chr10:43617477 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.337+11C>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002180040] | Chr10:43100733 [GRCh38] Chr10:43596181 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2731-20T>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002103022] | Chr10:43121926 [GRCh38] Chr10:43617374 [GRCh37] Chr10:10q11.21 |
likely benign |
NC_000010.10:g.(?_43620311)_(43623717_?)dup | duplication | Multiple endocrine neoplasia, type 2 [RCV003109789] | Chr10:43620311..43623717 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1301G>A (p.Ser434Asn) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003112980] | Chr10:43111244 [GRCh38] Chr10:43606692 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1789G>C (p.Gly597Arg) | single nucleotide variant | not provided [RCV003123186] | Chr10:43113585 [GRCh38] Chr10:43609033 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1068G>T (p.Leu356=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003121507] | Chr10:43109035 [GRCh38] Chr10:43604483 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1921G>C (p.Ala641Pro) | single nucleotide variant | Familial medullary thyroid carcinoma [RCV002272791]|not provided [RCV003481269] | Chr10:43114521 [GRCh38] Chr10:43609969 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1573C>A (p.Arg525=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002255794] | Chr10:43112149 [GRCh38] Chr10:43607597 [GRCh37] Chr10:10q11.21 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_020975.6(RET):c.1687A>G (p.Lys563Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002255795]|Multiple endocrine neoplasia, type 2 [RCV003101402] | Chr10:43112891 [GRCh38] Chr10:43608339 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.909G>A (p.Val303=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002256979] | Chr10:43106417 [GRCh38] Chr10:43601865 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3036G>A (p.Arg1012=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002256978] | Chr10:43124979 [GRCh38] Chr10:43620427 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1069G>A (p.Val357Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003296596] | Chr10:43109036 [GRCh38] Chr10:43604484 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2996C>G (p.Ala999Gly) | single nucleotide variant | Multiple endocrine neoplasia, type 2a [RCV003230330]|RET-related condition [RCV003396960] | Chr10:43124939 [GRCh38] Chr10:43620387 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2994T>C (p.Phe998=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002435532]|Multiple endocrine neoplasia, type 2 [RCV003533272] | Chr10:43124937 [GRCh38] Chr10:43620385 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.282C>T (p.Leu94=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002435098] | Chr10:43100667 [GRCh38] Chr10:43596115 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1140C>A (p.Asp380Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002452091] | Chr10:43109107 [GRCh38] Chr10:43604555 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2136+2T>G | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002416555]|Hirschsprung disease, susceptibility to, 1 [RCV002289007]|Multiple endocrine neoplasia, type 2 [RCV003645908] | Chr10:43114738 [GRCh38] Chr10:43610186 [GRCh37] Chr10:10q11.21 |
likely pathogenic|uncertain significance |
NM_020975.6(RET):c.626-49C>T | single nucleotide variant | not specified [RCV002268741] | Chr10:43104903 [GRCh38] Chr10:43600351 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2137-744A>G | single nucleotide variant | not provided [RCV002262281] | Chr10:43115840 [GRCh38] Chr10:43611288 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.337+24A>C | single nucleotide variant | not specified [RCV002268740] | Chr10:43100746 [GRCh38] Chr10:43596194 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1438G>T (p.Glu480Ter) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV002289465] | Chr10:43111381 [GRCh38] Chr10:43606829 [GRCh37] Chr10:10q11.21 |
likely pathogenic |
NM_020975.6(RET):c.1010_1017del (p.Glu337fs) | deletion | Hereditary cancer-predisposing syndrome [RCV002435695] | Chr10:43106516..43106523 [GRCh38] Chr10:43601964..43601971 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.2833G>T (p.Val945Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002435149] | Chr10:43123702 [GRCh38] Chr10:43619150 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.158T>C (p.Val53Ala) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV002288352] | Chr10:43100543 [GRCh38] Chr10:43595991 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2136+272G>A | single nucleotide variant | not provided [RCV002262280] | Chr10:43115008 [GRCh38] Chr10:43610456 [GRCh37] Chr10:10q11.21 |
benign|likely benign |
NM_020975.6(RET):c.2940-45C>T | single nucleotide variant | not specified [RCV002268743] | Chr10:43124838 [GRCh38] Chr10:43620286 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.625+143C>T | single nucleotide variant | not provided [RCV002292772] | Chr10:43102772 [GRCh38] Chr10:43598220 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.1149C>T (p.Gly383=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002452300]|Multiple endocrine neoplasia, type 2 [RCV003645912] | Chr10:43109116 [GRCh38] Chr10:43604564 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1376A>T (p.Glu459Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002383818] | Chr10:43111319 [GRCh38] Chr10:43606767 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1897_1899del (p.Leu633del) | deletion | Multiple endocrine neoplasia, type 2a [RCV002289481] | Chr10:43114496..43114498 [GRCh38] Chr10:43609944..43609946 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.663G>A (p.Leu221=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002366796]|Multiple endocrine neoplasia, type 2 [RCV003645916] | Chr10:43104989 [GRCh38] Chr10:43600437 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.541C>G (p.Pro181Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002349477] | Chr10:43102545 [GRCh38] Chr10:43597993 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.203T>A (p.Leu68Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002419914] | Chr10:43100588 [GRCh38] Chr10:43596036 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.507G>A (p.Glu169=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002351459]|Multiple endocrine neoplasia, type 2 [RCV003096605] | Chr10:43102511 [GRCh38] Chr10:43597959 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1542C>T (p.Gly514=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003297679] | Chr10:43112118 [GRCh38] Chr10:43607566 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3205T>C (p.Trp1069Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003297685] | Chr10:43128129 [GRCh38] Chr10:43623577 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1279G>A (p.Val427Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002385198] | Chr10:43111222 [GRCh38] Chr10:43606670 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.813C>A (p.Thr271=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002421355] | Chr10:43105139 [GRCh38] Chr10:43600587 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3015G>T (p.Leu1005=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002435819]|Multiple endocrine neoplasia, type 2 [RCV003102977] | Chr10:43124958 [GRCh38] Chr10:43620406 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2692G>A (p.Asp898Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002453201] | Chr10:43120165 [GRCh38] Chr10:43615613 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3031A>T (p.Lys1011Ter) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002438113] | Chr10:43124974 [GRCh38] Chr10:43620422 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.3033G>C (p.Lys1011Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002438132] | Chr10:43124976 [GRCh38] Chr10:43620424 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3035G>A (p.Arg1012Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002438148] | Chr10:43124978 [GRCh38] Chr10:43620426 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2049C>G (p.Phe683Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002420044] | Chr10:43114649 [GRCh38] Chr10:43610097 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2898C>A (p.Thr966=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002437993]|Multiple endocrine neoplasia, type 2 [RCV003108114] | Chr10:43123767 [GRCh38] Chr10:43619215 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.741C>A (p.Ala247=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002384963] | Chr10:43105067 [GRCh38] Chr10:43600515 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.626-41G>A | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV002496208]|not specified [RCV002268742] | Chr10:43104911 [GRCh38] Chr10:43600359 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3026T>G (p.Met1009Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002435939]|not provided [RCV003318726] | Chr10:43124969 [GRCh38] Chr10:43620417 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.814T>A (p.Phe272Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002421397] | Chr10:43105140 [GRCh38] Chr10:43600588 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.676C>A (p.Arg226Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002369300] | Chr10:43105002 [GRCh38] Chr10:43600450 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.708G>A (p.Lys236=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002367275] | Chr10:43105034 [GRCh38] Chr10:43600482 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.715C>T (p.Leu239=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002367574] | Chr10:43105041 [GRCh38] Chr10:43600489 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2628A>G (p.Ala876=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002437252]|Multiple endocrine neoplasia, type 2 [RCV003533262] | Chr10:43120101 [GRCh38] Chr10:43615549 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1153G>A (p.Gly385Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002351052] | Chr10:43109120 [GRCh38] Chr10:43604568 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2617C>T (p.Arg873Trp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003274351]|Hirschsprung disease, susceptibility to, 1 [RCV003150912] | Chr10:43120090 [GRCh38] Chr10:43615538 [GRCh37] Chr10:10q11.21 |
likely pathogenic |
NM_020975.6(RET):c.2026T>A (p.Phe676Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002419690] | Chr10:43114626 [GRCh38] Chr10:43610074 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2682C>T (p.Gly894=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002437328]|Multiple endocrine neoplasia, type 2 [RCV003645932] | Chr10:43120155 [GRCh38] Chr10:43615603 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2688C>T (p.Ser896=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002437345]|Multiple endocrine neoplasia, type 2 [RCV003111545] | Chr10:43120161 [GRCh38] Chr10:43615609 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2694T>C (p.Asp898=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002437367] | Chr10:43120167 [GRCh38] Chr10:43615615 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2025C>G (p.Thr675=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002419663] | Chr10:43114625 [GRCh38] Chr10:43610073 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.626-5C>T | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002368628] | Chr10:43104947 [GRCh38] Chr10:43600395 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2881T>C (p.Phe961Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002437809] | Chr10:43123750 [GRCh38] Chr10:43619198 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.675G>A (p.Thr225=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002369267]|Multiple endocrine neoplasia, type 2 [RCV003098367] | Chr10:43105001 [GRCh38] Chr10:43600449 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1221C>A (p.Thr407=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002369105] | Chr10:43109188 [GRCh38] Chr10:43604636 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1229T>A (p.Leu410His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002367214]|Multiple endocrine neoplasia, type 2 [RCV003098341] | Chr10:43109196 [GRCh38] Chr10:43604644 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.54G>A (p.Leu18=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002351648] | Chr10:43077312 [GRCh38] Chr10:43572760 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2549A>T (p.Asp850Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002434946]|Multiple endocrine neoplasia, type 2 [RCV003101955] | Chr10:43119687 [GRCh38] Chr10:43615135 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1314C>G (p.Val438=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002385523]|Multiple endocrine neoplasia, type 2 [RCV003645922] | Chr10:43111257 [GRCh38] Chr10:43606705 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2734C>A (p.Arg912=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002437504] | Chr10:43121949 [GRCh38] Chr10:43617397 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2835G>C (p.Val945=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002435167] | Chr10:43123704 [GRCh38] Chr10:43619152 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.195C>T (p.Ser65=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002421703] | Chr10:43100580 [GRCh38] Chr10:43596028 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.575C>G (p.Pro192Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002349960] | Chr10:43102579 [GRCh38] Chr10:43598027 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2736G>T (p.Arg912=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002437537]|Multiple endocrine neoplasia, type 2 [RCV003645933] | Chr10:43121951 [GRCh38] Chr10:43617399 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.355C>T (p.Leu119Phe) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002454924] | Chr10:43102359 [GRCh38] Chr10:43597807 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3297G>A (p.Trp1099Ter) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002454655] | Chr10:43128221 [GRCh38] Chr10:43623669 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3297G>T (p.Trp1099Cys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002454657] | Chr10:43128221 [GRCh38] Chr10:43623669 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.626-3C>T | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002366730] | Chr10:43104949 [GRCh38] Chr10:43600397 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.804G>T (p.Ser268=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002419327] | Chr10:43105130 [GRCh38] Chr10:43600578 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1510G>A (p.Val504Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003297654] | Chr10:43111453 [GRCh38] Chr10:43606901 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3105G>A (p.Glu1035=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003297660] | Chr10:43126640 [GRCh38] Chr10:43622088 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1956G>C (p.Leu652=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003297669] | Chr10:43114556 [GRCh38] Chr10:43610004 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1461C>T (p.Ala487=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003297670]|Multiple endocrine neoplasia, type 2 [RCV003777264] | Chr10:43111404 [GRCh38] Chr10:43606852 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.70A>G (p.Lys24Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002367339] | Chr10:43077328 [GRCh38] Chr10:43572776 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.975C>T (p.Ala325=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002387115] | Chr10:43106483 [GRCh38] Chr10:43601931 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.122A>T (p.Tyr41Phe) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002369155] | Chr10:43100507 [GRCh38] Chr10:43595955 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1240A>G (p.Arg414Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003283601] | Chr10:43109207 [GRCh38] Chr10:43604655 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2366A>G (p.Lys789Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003283602] | Chr10:43118454 [GRCh38] Chr10:43613902 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.802T>G (p.Ser268Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003283603] | Chr10:43105128 [GRCh38] Chr10:43600576 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.792C>T (p.Asp264=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003283613] | Chr10:43105118 [GRCh38] Chr10:43600566 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1681A>G (p.Ser561Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003283619]|Multiple endocrine neoplasia, type 2 [RCV003645954] | Chr10:43112885 [GRCh38] Chr10:43608333 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.171G>A (p.Arg57=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002414771] | Chr10:43100556 [GRCh38] Chr10:43596004 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1864C>T (p.Pro622Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002414974] | Chr10:43113660 [GRCh38] Chr10:43609108 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.924G>A (p.Gly308=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002750066] | Chr10:43106432 [GRCh38] Chr10:43601880 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1014C>T (p.Thr338=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002331951]|Multiple endocrine neoplasia, type 2 [RCV003533174] | Chr10:43106522 [GRCh38] Chr10:43601970 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1885C>G (p.Leu629Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002415381] | Chr10:43114485 [GRCh38] Chr10:43609933 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.498C>T (p.Cys166=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002342934] | Chr10:43102502 [GRCh38] Chr10:43597950 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.49C>A (p.Leu17Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002343011] | Chr10:43077307 [GRCh38] Chr10:43572755 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.-1G>A | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002417147] | Chr10:43077258 [GRCh38] Chr10:43572706 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.626-21C>T | single nucleotide variant | not specified [RCV002466053] | Chr10:43104931 [GRCh38] Chr10:43600379 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1522+1G>A | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV002472204] | Chr10:43111466 [GRCh38] Chr10:43606914 [GRCh37] Chr10:10q11.21 |
likely pathogenic |
NM_020975.6(RET):c.1845G>A (p.Glu615=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002412920]|Multiple endocrine neoplasia, type 2 [RCV003533239] | Chr10:43113641 [GRCh38] Chr10:43609089 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1759+1G>A | single nucleotide variant | RET-related condition [RCV003395704]|RET-related disease [RCV003458911] | Chr10:43112964 [GRCh38] Chr10:43608412 [GRCh37] Chr10:10q11.21 |
pathogenic|likely pathogenic |
NM_020975.6(RET):c.1855T>G (p.Phe619Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002413085] | Chr10:43113651 [GRCh38] Chr10:43609099 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.564C>T (p.Phe188=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002345176]|Multiple endocrine neoplasia, type 2 [RCV003645914] | Chr10:43102568 [GRCh38] Chr10:43598016 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2119G>C (p.Asp707His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002417584]|Multiple endocrine neoplasia, type 2 [RCV003098632] | Chr10:43114719 [GRCh38] Chr10:43610167 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3120G>A (p.Leu1040=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002320495] | Chr10:43126655 [GRCh38] Chr10:43622103 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.675G>T (p.Thr225=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002377976] | Chr10:43105001 [GRCh38] Chr10:43600449 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1339G>C (p.Ala447Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002387657] | Chr10:43111282 [GRCh38] Chr10:43606730 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1099A>G (p.Asn367Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002455429] | Chr10:43109066 [GRCh38] Chr10:43604514 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3137C>T (p.Ala1046Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002320657]|Multiple endocrine neoplasia, type 2 [RCV003099227] | Chr10:43126672 [GRCh38] Chr10:43622120 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1080G>A (p.Arg360=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002417770] | Chr10:43109047 [GRCh38] Chr10:43604495 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2067T>G (p.Ser689=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002422060] | Chr10:43114667 [GRCh38] Chr10:43610115 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1522+3G>A | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002392449] | Chr10:43111468 [GRCh38] Chr10:43606916 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1547C>T (p.Pro516Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002403283] | Chr10:43112123 [GRCh38] Chr10:43607571 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.711C>T (p.Tyr237=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002378321]|Multiple endocrine neoplasia, type 2 [RCV003103363] | Chr10:43105037 [GRCh38] Chr10:43600485 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2759T>C (p.Ile920Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002439457] | Chr10:43121974 [GRCh38] Chr10:43617422 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2629G>T (p.Ala877Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002426456]|Multiple endocrine neoplasia, type 2 [RCV003102045] | Chr10:43120102 [GRCh38] Chr10:43615550 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3204C>A (p.Asn1068Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002443367]|Multiple endocrine neoplasia, type 2 [RCV003775074] | Chr10:43128128 [GRCh38] Chr10:43623576 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1401G>A (p.Val467=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002389294] | Chr10:43111344 [GRCh38] Chr10:43606792 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.615G>C (p.Arg205Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002353650]|Multiple endocrine neoplasia, type 2 [RCV003103272] | Chr10:43102619 [GRCh38] Chr10:43598067 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.39G>A (p.Leu13=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002357800]|Multiple endocrine neoplasia, type 2 [RCV003775787] | Chr10:43077297 [GRCh38] Chr10:43572745 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2553C>A (p.Leu851=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002433316] | Chr10:43119691 [GRCh38] Chr10:43615139 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1656C>T (p.Thr552=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002403737] | Chr10:43112860 [GRCh38] Chr10:43608308 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3274A>C (p.Asn1092His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002325020] | Chr10:43128198 [GRCh38] Chr10:43623646 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1936T>G (p.Phe646Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002304500] | Chr10:43114536 [GRCh38] Chr10:43609984 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.818C>A (p.Pro273His) | single nucleotide variant | Ovarian cancer [RCV003154779] | Chr10:43105144 [GRCh38] Chr10:43600592 [GRCh37] Chr10:10q11.21 |
likely pathogenic |
NM_020975.6(RET):c.1980C>T (p.Tyr660=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002423674] | Chr10:43114580 [GRCh38] Chr10:43610028 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2486G>A (p.Ser829Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002430859]|Multiple endocrine neoplasia, type 2 [RCV003101873] | Chr10:43119624 [GRCh38] Chr10:43615072 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1223A>G (p.Tyr408Cys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002361840] | Chr10:43109190 [GRCh38] Chr10:43604638 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1488C>G (p.Ala496=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002389629] | Chr10:43111431 [GRCh38] Chr10:43606879 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.822G>C (p.Ala274=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002428014]|Multiple endocrine neoplasia, type 2 [RCV003099875] | Chr10:43105148 [GRCh38] Chr10:43600596 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1495C>T (p.Gln499Ter) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002389791]|Multiple endocrine neoplasia, type 2 [RCV003095239] | Chr10:43111438 [GRCh38] Chr10:43606886 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.935G>A (p.Arg312Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002371708] | Chr10:43106443 [GRCh38] Chr10:43601891 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2092G>A (p.Asp698Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002424064]|Multiple endocrine neoplasia, type 2 [RCV003101050] | Chr10:43114692 [GRCh38] Chr10:43610140 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1100A>G (p.Asn367Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002431112] | Chr10:43109067 [GRCh38] Chr10:43604515 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1782C>G (p.His594Gln) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002304782] | Chr10:43113578 [GRCh38] Chr10:43609026 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2367A>G (p.Lys789=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002457732] | Chr10:43118455 [GRCh38] Chr10:43613903 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3100_3101del (p.Ser1034fs) | microsatellite | Hereditary cancer-predisposing syndrome [RCV002325980] | Chr10:43126632..43126633 [GRCh38] Chr10:43622080..43622081 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.572T>C (p.Leu191Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002347728]|Multiple endocrine neoplasia, type 2 [RCV003096856] | Chr10:43102576 [GRCh38] Chr10:43598024 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2125T>C (p.Phe709Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002303553] | Chr10:43114725 [GRCh38] Chr10:43610173 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2999A>G (p.Asp1000Gly) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002304947] | Chr10:43124942 [GRCh38] Chr10:43620390 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2790G>T (p.Thr930=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002441421] | Chr10:43122005 [GRCh38] Chr10:43617453 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1788T>G (p.Pro596=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002407743] | Chr10:43113584 [GRCh38] Chr10:43609032 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.322A>G (p.Lys108Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002445537] | Chr10:43100707 [GRCh38] Chr10:43596155 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3231C>A (p.Leu1077=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002445543]|Multiple endocrine neoplasia, type 2 [RCV003102331] | Chr10:43128155 [GRCh38] Chr10:43623603 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3308C>T (p.Pro1103Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002326265] | Chr10:43128232 [GRCh38] Chr10:43623680 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1888T>A (p.Cys630Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002407971] | Chr10:43114488 [GRCh38] Chr10:43609936 [GRCh37] Chr10:10q11.21 |
likely pathogenic |
NM_020975.6(RET):c.1995C>T (p.His665=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002416979] | Chr10:43114595 [GRCh38] Chr10:43610043 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1666T>G (p.Ser556Ala) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002305176] | Chr10:43112870 [GRCh38] Chr10:43608318 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3207G>T (p.Trp1069Cys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002323022] | Chr10:43128131 [GRCh38] Chr10:43623579 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.332T>G (p.Val111Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002326483] | Chr10:43100717 [GRCh38] Chr10:43596165 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1899_1900delinsAA (p.Cys634Ser) | indel | Hereditary cancer-predisposing syndrome [RCV002408164] | Chr10:43114499..43114500 [GRCh38] Chr10:43609947..43609948 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.1899G>A (p.Leu633=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002408178]|Multiple endocrine neoplasia, type 2 [RCV003645926] | Chr10:43114499 [GRCh38] Chr10:43609947 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.902C>A (p.Ala301Glu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002305287] | Chr10:43106410 [GRCh38] Chr10:43601858 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.328A>C (p.Ser110Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002445810] | Chr10:43100713 [GRCh38] Chr10:43596161 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1295C>T (p.Ala432Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002380630]|Multiple endocrine neoplasia, type 2a [RCV003444270] | Chr10:43111238 [GRCh38] Chr10:43606686 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.187G>T (p.Val63Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002415289] | Chr10:43100572 [GRCh38] Chr10:43596020 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2005A>T (p.Ile669Phe) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002417244] | Chr10:43114605 [GRCh38] Chr10:43610053 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2269G>A (p.Val757Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002443847] | Chr10:43116716 [GRCh38] Chr10:43612164 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1973A>T (p.His658Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002423531] | Chr10:43114573 [GRCh38] Chr10:43610021 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1155A>G (p.Gly385=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002363968] | Chr10:43109122 [GRCh38] Chr10:43604570 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1580A>T (p.Glu527Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002405798]|Multiple endocrine neoplasia, type 2 [RCV003096967] | Chr10:43112156 [GRCh38] Chr10:43607604 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.72A>G (p.Lys24=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002382751] | Chr10:43077330 [GRCh38] Chr10:43572778 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3274A>T (p.Asn1092Tyr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002445721] | Chr10:43128198 [GRCh38] Chr10:43623646 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1470G>T (p.Gln490His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002396930] | Chr10:43111413 [GRCh38] Chr10:43606861 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2425T>C (p.Tyr809His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002450426] | Chr10:43119563 [GRCh38] Chr10:43615011 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2940-5A>C | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002440159] | Chr10:43124878 [GRCh38] Chr10:43620326 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.256A>T (p.Ile86Phe) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002425993] | Chr10:43100641 [GRCh38] Chr10:43596089 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2220G>A (p.Lys740=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002428076] | Chr10:43116667 [GRCh38] Chr10:43612115 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.889C>T (p.Arg297Cys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002376027]|Hirschsprung disease, susceptibility to, 1 [RCV003464498]|Multiple endocrine neoplasia, type 2 [RCV003100050] | Chr10:43106397 [GRCh38] Chr10:43601845 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2228C>T (p.Ala743Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002428168] | Chr10:43116675 [GRCh38] Chr10:43612123 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2300G>A (p.Ser767Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002446328] | Chr10:43118388 [GRCh38] Chr10:43613836 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.24C>T (p.Ala8=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002431079] | Chr10:43077282 [GRCh38] Chr10:43572730 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.13A>G (p.Thr5Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002389230]|Multiple endocrine neoplasia, type 2 [RCV003095091] | Chr10:43077271 [GRCh38] Chr10:43572719 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.597C>A (p.Asn199Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002356118] | Chr10:43102601 [GRCh38] Chr10:43598049 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3040-3del | deletion | Hereditary cancer-predisposing syndrome [RCV002444004] | Chr10:43126571 [GRCh38] Chr10:43622019 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3043T>C (p.Tyr1015His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002444026]|Multiple endocrine neoplasia, type 2 [RCV003775449] | Chr10:43126578 [GRCh38] Chr10:43622026 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3043T>G (p.Tyr1015Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002444027]|Multiple endocrine neoplasia, type 2 [RCV003102998] | Chr10:43126578 [GRCh38] Chr10:43622026 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3283G>A (p.Val1095Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002445784]|Multiple endocrine neoplasia, type 2 [RCV003645910] | Chr10:43128207 [GRCh38] Chr10:43623655 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.166C>T (p.Leu56=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002395119] | Chr10:43100551 [GRCh38] Chr10:43595999 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1569G>T (p.Lys523Asn) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002296664]|RET-related condition [RCV003395450] | Chr10:43112145 [GRCh38] Chr10:43607593 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.639C>G (p.Pro213=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002354113] | Chr10:43104965 [GRCh38] Chr10:43600413 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.346T>C (p.Phe116Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002457283]|Multiple endocrine neoplasia, type 2 [RCV003645911] | Chr10:43102350 [GRCh38] Chr10:43597798 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1402A>T (p.Asn468Tyr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002389310] | Chr10:43111345 [GRCh38] Chr10:43606793 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1965C>T (p.Phe655=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002423383] | Chr10:43114565 [GRCh38] Chr10:43610013 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.861G>A (p.Arg287=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002371150] | Chr10:43105187 [GRCh38] Chr10:43600635 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1214C>T (p.Pro405Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002358175] | Chr10:43109181 [GRCh38] Chr10:43604629 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.41_43delinsGGTTGCTGC (p.Leu13_Leu14insArgLeu) | indel | Hereditary cancer-predisposing syndrome [RCV002323341] | Chr10:43077299..43077301 [GRCh38] Chr10:43572747..43572749 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1498C>A (p.Leu500Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002389836] | Chr10:43111441 [GRCh38] Chr10:43606889 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1795C>T (p.Pro599Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002404243] | Chr10:43113591 [GRCh38] Chr10:43609039 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.884C>A (p.Thr295Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002373818] | Chr10:43106392 [GRCh38] Chr10:43601840 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.851A>T (p.Glu284Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002447764] | Chr10:43105177 [GRCh38] Chr10:43600625 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.768G>T (p.Val256=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002400525]|Multiple endocrine neoplasia, type 2 [RCV003103430] | Chr10:43105094 [GRCh38] Chr10:43600542 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.769C>A (p.Pro257Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002400552]|Multiple endocrine neoplasia, type 2 [RCV003103433] | Chr10:43105095 [GRCh38] Chr10:43600543 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1349G>A (p.Ser450Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002387898]|Multiple endocrine neoplasia, type 2 [RCV003774280] | Chr10:43111292 [GRCh38] Chr10:43606740 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1763G>T (p.Gly588Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002407624]|Multiple endocrine neoplasia, type 2 [RCV003645925] | Chr10:43113559 [GRCh38] Chr10:43609007 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.852G>A (p.Glu284=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002447804]|Multiple endocrine neoplasia, type 2 [RCV003645920] | Chr10:43105178 [GRCh38] Chr10:43600626 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1670C>T (p.Thr557Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002405846] | Chr10:43112874 [GRCh38] Chr10:43608322 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1317G>C (p.Gln439His) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002298037] | Chr10:43111260 [GRCh38] Chr10:43606708 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2328C>T (p.Phe776=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002457614]|Multiple endocrine neoplasia, type 2 [RCV003645930] | Chr10:43118416 [GRCh38] Chr10:43613864 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.154T>C (p.Tyr52His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002403357] | Chr10:43100539 [GRCh38] Chr10:43595987 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.652_653dup (p.Asp219fs) | duplication | Hereditary cancer-predisposing syndrome [RCV002364235] | Chr10:43104975..43104976 [GRCh38] Chr10:43600423..43600424 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.1101C>T (p.Asn367=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002433039] | Chr10:43109068 [GRCh38] Chr10:43604516 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2930G>C (p.Ser977Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002440063] | Chr10:43123799 [GRCh38] Chr10:43619247 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2930G>T (p.Ser977Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002440065] | Chr10:43123799 [GRCh38] Chr10:43619247 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2569C>G (p.Gln857Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002425982] | Chr10:43119707 [GRCh38] Chr10:43615155 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2301T>C (p.Ser767=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002446342] | Chr10:43118389 [GRCh38] Chr10:43613837 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.993G>A (p.Val331=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002382893]|Multiple endocrine neoplasia, type 2 [RCV003094902] | Chr10:43106501 [GRCh38] Chr10:43601949 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1385C>G (p.Ser462Trp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002396510] | Chr10:43111328 [GRCh38] Chr10:43606776 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1268G>T (p.Gly423Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002449768] | Chr10:43111211 [GRCh38] Chr10:43606659 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.359C>T (p.Thr120Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002339859] | Chr10:43102363 [GRCh38] Chr10:43597811 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2799T>C (p.Asp933=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002441490] | Chr10:43122014 [GRCh38] Chr10:43617462 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.27G>A (p.Ala9=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002441568] | Chr10:43077285 [GRCh38] Chr10:43572733 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2439G>A (p.Arg813=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002459983]|Multiple endocrine neoplasia, type 2 [RCV003101820] | Chr10:43119577 [GRCh38] Chr10:43615025 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1639G>T (p.Asp547Tyr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002403515] | Chr10:43112215 [GRCh38] Chr10:43607663 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3295T>C (p.Trp1099Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002326179] | Chr10:43128219 [GRCh38] Chr10:43623667 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.732C>T (p.Thr244=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002380153] | Chr10:43105058 [GRCh38] Chr10:43600506 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2721G>A (p.Lys907=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002431298]|Multiple endocrine neoplasia, type 2 [RCV003102147] | Chr10:43120194 [GRCh38] Chr10:43615642 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2515G>A (p.Asp839Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002432989]|Hirschsprung disease, susceptibility to, 1 [RCV003464555]|Multiple endocrine neoplasia, type 2 [RCV003111542] | Chr10:43119653 [GRCh38] Chr10:43615101 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1408A>G (p.Thr470Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002389427]|Multiple endocrine neoplasia, type 2 [RCV003774311] | Chr10:43111351 [GRCh38] Chr10:43606799 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.335G>T (p.Arg112Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002321070]|Multiple endocrine neoplasia, type 2 [RCV003775599] | Chr10:43100720 [GRCh38] Chr10:43596168 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.556C>T (p.His186Tyr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002352044] | Chr10:43102560 [GRCh38] Chr10:43598008 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2055C>T (p.Val685=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002421873] | Chr10:43114655 [GRCh38] Chr10:43610103 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.67G>C (p.Gly23Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002369484] | Chr10:43077325 [GRCh38] Chr10:43572773 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2400C>T (p.Leu800=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002459656] | Chr10:43119538 [GRCh38] Chr10:43614986 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3172G>C (p.Glu1058Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002322655] | Chr10:43126707 [GRCh38] Chr10:43622155 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.698A>T (p.Gln233Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002378190]|Multiple endocrine neoplasia, type 2 [RCV003645918] | Chr10:43105024 [GRCh38] Chr10:43600472 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.-7_-4del | deletion | Hereditary cancer-predisposing syndrome [RCV002378242] | Chr10:43077252..43077255 [GRCh38] Chr10:43572700..43572703 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1382C>T (p.Thr461Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002381199] | Chr10:43111325 [GRCh38] Chr10:43606773 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1610C>T (p.Pro537Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002400899]|Multiple endocrine neoplasia, type 2 [RCV003100749] | Chr10:43112186 [GRCh38] Chr10:43607634 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.399T>C (p.Arg133=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002321157] | Chr10:43102403 [GRCh38] Chr10:43597851 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.-3G>A | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002321170] | Chr10:43077256 [GRCh38] Chr10:43572704 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3226C>A (p.Pro1076Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002445514] | Chr10:43128150 [GRCh38] Chr10:43623598 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1587G>A (p.Glu529=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002398351] | Chr10:43112163 [GRCh38] Chr10:43607611 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2467G>T (p.Gly823Trp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002455519] | Chr10:43119605 [GRCh38] Chr10:43615053 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1503T>C (p.Leu501=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002389971] | Chr10:43111446 [GRCh38] Chr10:43606894 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3184_3186inv (p.Tyr1062Ile) | inversion | Hereditary cancer-predisposing syndrome [RCV002322771] | Chr10:43126719..43126721 [GRCh38] Chr10:43622167..43622169 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2335C>G (p.Leu779Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002448226] | Chr10:43118423 [GRCh38] Chr10:43613871 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1983C>G (p.His661Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002423713] | Chr10:43114583 [GRCh38] Chr10:43610031 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2952G>A (p.Met984Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002441887]|Multiple endocrine neoplasia, type 2 [RCV003533270] | Chr10:43124895 [GRCh38] Chr10:43620343 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2953C>T (p.Leu985=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002441898] | Chr10:43124896 [GRCh38] Chr10:43620344 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3335T>C (p.Phe1112Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002326529] | Chr10:43128259 [GRCh38] Chr10:43623707 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2396C>T (p.Pro799Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002450208]|Multiple endocrine neoplasia, type 2 [RCV003098847] | Chr10:43119534 [GRCh38] Chr10:43614982 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.18C>G (p.Ser6=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002408222] | Chr10:43077276 [GRCh38] Chr10:43572724 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.241C>T (p.His81Tyr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002459781] | Chr10:43100626 [GRCh38] Chr10:43596074 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.670A>T (p.Ser224Cys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002299452] | Chr10:43104996 [GRCh38] Chr10:43600444 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3189C>T (p.Gly1063=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002322815] | Chr10:43128113 [GRCh38] Chr10:43623561 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1340C>T (p.Ala447Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002387702] | Chr10:43111283 [GRCh38] Chr10:43606731 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2961C>T (p.Cys987=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002441988] | Chr10:43124904 [GRCh38] Chr10:43620352 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3342T>C (p.Ser1114=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002326613] | Chr10:43128266 [GRCh38] Chr10:43623714 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.697C>G (p.Gln233Glu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002299474] | Chr10:43105023 [GRCh38] Chr10:43600471 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1759C>A (p.Arg587=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002401635] | Chr10:43112963 [GRCh38] Chr10:43608411 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1972C>T (p.His658Tyr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002295664] | Chr10:43114572 [GRCh38] Chr10:43610020 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2532G>C (p.Arg844=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002433176] | Chr10:43119670 [GRCh38] Chr10:43615118 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1885C>T (p.Leu629=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002407924] | Chr10:43114485 [GRCh38] Chr10:43609933 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.-5G>C | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002358002] | Chr10:43077254 [GRCh38] Chr10:43572702 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.408G>A (p.Glu136=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002323213]|Multiple endocrine neoplasia, type 2 [RCV003775812] | Chr10:43102412 [GRCh38] Chr10:43597860 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.846G>T (p.Val282=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002447596] | Chr10:43105172 [GRCh38] Chr10:43600620 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1296_1297delinsGC (p.Phe433Leu) | indel | Hereditary cancer-predisposing syndrome [RCV002380639] | Chr10:43111239..43111240 [GRCh38] Chr10:43606687..43606688 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.15G>T (p.Thr5=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002398678] | Chr10:43077273 [GRCh38] Chr10:43572721 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.190C>T (p.Pro64Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002408435] | Chr10:43100575 [GRCh38] Chr10:43596023 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2077C>T (p.Arg693Cys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002422226]|Hirschsprung disease, susceptibility to, 1 [RCV003464546]|Multiple endocrine neoplasia, type 2 [RCV003098601] | Chr10:43114677 [GRCh38] Chr10:43610125 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2437C>A (p.Arg813=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002459950]|Multiple endocrine neoplasia, type 2 [RCV003775248] | Chr10:43119575 [GRCh38] Chr10:43615023 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.243T>A (p.His81Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002460023] | Chr10:43100628 [GRCh38] Chr10:43596076 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1762G>A (p.Gly588Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002401684] | Chr10:43113558 [GRCh38] Chr10:43609006 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2656C>G (p.Arg886Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002428704]|Multiple endocrine neoplasia, type 2 [RCV003102079] | Chr10:43120129 [GRCh38] Chr10:43615577 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1016C>G (p.Ser339Trp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002335623] | Chr10:43106524 [GRCh38] Chr10:43601972 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3240T>A (p.Ala1080=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002324793] | Chr10:43128164 [GRCh38] Chr10:43623612 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1297T>C (p.Phe433Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002380691] | Chr10:43111240 [GRCh38] Chr10:43606688 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2664G>T (p.Met888Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002428766] | Chr10:43120137 [GRCh38] Chr10:43615585 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1644C>G (p.Gly548=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002403595]|Multiple endocrine neoplasia, type 2 [RCV003097049] | Chr10:43112220 [GRCh38] Chr10:43607668 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2393-4C>A | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002430650] | Chr10:43119527 [GRCh38] Chr10:43614975 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1592G>A (p.Cys531Tyr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002398461]|Hirschsprung disease, susceptibility to, 1 [RCV003464527] | Chr10:43112168 [GRCh38] Chr10:43607616 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.18C>A (p.Ser6=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002408217] | Chr10:43077276 [GRCh38] Chr10:43572724 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1905C>G (p.Arg635=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002408326] | Chr10:43114505 [GRCh38] Chr10:43609953 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.718G>A (p.Val240Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002370780] | Chr10:43105044 [GRCh38] Chr10:43600492 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1398T>G (p.Phe466Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002389163] | Chr10:43111341 [GRCh38] Chr10:43606789 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3051C>A (p.Asp1017Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002444118]|Multiple endocrine neoplasia, type 2 [RCV003775451] | Chr10:43126586 [GRCh38] Chr10:43622034 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3054T>C (p.Leu1018=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002444141] | Chr10:43126589 [GRCh38] Chr10:43622037 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1605C>T (p.Gly535=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002398778] | Chr10:43112181 [GRCh38] Chr10:43607629 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.591C>T (p.Cys197=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002355798] | Chr10:43102595 [GRCh38] Chr10:43598043 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2256C>T (p.Tyr752=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002443640] | Chr10:43116703 [GRCh38] Chr10:43612151 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1185G>A (p.Val395=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002337964] | Chr10:43109152 [GRCh38] Chr10:43604600 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.592C>G (p.Pro198Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002355848] | Chr10:43102596 [GRCh38] Chr10:43598044 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1615G>A (p.Gly539Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002400967]|Multiple endocrine neoplasia, type 2 [RCV003097008] | Chr10:43112191 [GRCh38] Chr10:43607639 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.855C>A (p.Phe285Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002414479] | Chr10:43105181 [GRCh38] Chr10:43600629 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.532dup (p.Glu178fs) | duplication | Hereditary cancer-predisposing syndrome [RCV002346831] | Chr10:43102533..43102534 [GRCh38] Chr10:43597981..43597982 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.2916G>A (p.Arg972=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002439881] | Chr10:43123785 [GRCh38] Chr10:43619233 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2922C>G (p.Asp974Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002439975] | Chr10:43123791 [GRCh38] Chr10:43619239 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.847G>C (p.Val283Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002447633]|Hirschsprung disease, susceptibility to, 1 [RCV003464495] | Chr10:43105173 [GRCh38] Chr10:43600621 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1968C>T (p.Cys656=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002423428]|Multiple endocrine neoplasia, type 2 [RCV003645927]|not provided [RCV002481085] | Chr10:43114568 [GRCh38] Chr10:43610016 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.724G>C (p.Val242Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002371108]|Multiple endocrine neoplasia, type 2 [RCV003533198] | Chr10:43105050 [GRCh38] Chr10:43600498 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.225G>T (p.Thr75=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002443715] | Chr10:43100610 [GRCh38] Chr10:43596058 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.642C>T (p.Phe214=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002361720] | Chr10:43104968 [GRCh38] Chr10:43600416 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1383C>T (p.Thr461=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002381215]|Multiple endocrine neoplasia, type 2 [RCV003095066] | Chr10:43111326 [GRCh38] Chr10:43606774 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1817A>T (p.Tyr606Phe) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002410280] | Chr10:43113613 [GRCh38] Chr10:43609061 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.783C>A (p.Thr261=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002412150] | Chr10:43105109 [GRCh38] Chr10:43600557 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2937G>A (p.Glu979=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002440121] | Chr10:43123806 [GRCh38] Chr10:43619254 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1476C>T (p.Thr492=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002397040] | Chr10:43111419 [GRCh38] Chr10:43606867 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1934C>G (p.Ser645Cys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002410963] | Chr10:43114534 [GRCh38] Chr10:43609982 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1974C>T (p.His658=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002423546] | Chr10:43114574 [GRCh38] Chr10:43610022 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2928C>T (p.Cys976=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002440015]|Multiple endocrine neoplasia, type 2 [RCV003102886] | Chr10:43123797 [GRCh38] Chr10:43619245 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2929A>G (p.Ser977Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002440022] | Chr10:43123798 [GRCh38] Chr10:43619246 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1126G>A (p.Val376Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002444049] | Chr10:43109093 [GRCh38] Chr10:43604541 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3274A>G (p.Asn1092Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002325021] | Chr10:43128198 [GRCh38] Chr10:43623646 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.653C>G (p.Pro218Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002364311]|Multiple endocrine neoplasia, type 2 [RCV003103307] | Chr10:43104979 [GRCh38] Chr10:43600427 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.783C>G (p.Thr261=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002412156]|Multiple endocrine neoplasia, type 2 [RCV003645919] | Chr10:43105109 [GRCh38] Chr10:43600557 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1872C>T (p.Asp624=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002415126] | Chr10:43113668 [GRCh38] Chr10:43609116 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.887T>A (p.Leu296Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002375979] | Chr10:43106395 [GRCh38] Chr10:43601843 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2062T>G (p.Ser688Ala) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002299846] | Chr10:43114662 [GRCh38] Chr10:43610110 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2493C>T (p.Gly831=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002430974]|Multiple endocrine neoplasia, type 2 [RCV003533261] | Chr10:43119631 [GRCh38] Chr10:43615079 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1776G>C (p.Gly592=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002403992] | Chr10:43113572 [GRCh38] Chr10:43609020 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1245G>C (p.Arg415Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002393937] | Chr10:43109212 [GRCh38] Chr10:43604660 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1258G>A (p.Ala420Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002427887]|Multiple endocrine neoplasia, type 2 [RCV003103483] | Chr10:43109225 [GRCh38] Chr10:43604673 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1664T>G (p.Phe555Cys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002403881]|Hirschsprung disease, susceptibility to, 1 [RCV003492764] | Chr10:43112868 [GRCh38] Chr10:43608316 [GRCh37] Chr10:10q11.21 |
likely pathogenic |
NM_020975.6(RET):c.1225T>A (p.Ser409Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002364397] | Chr10:43109192 [GRCh38] Chr10:43604640 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.45dup (p.Leu16fs) | duplication | Hereditary cancer-predisposing syndrome [RCV002342361] | Chr10:43077302..43077303 [GRCh38] Chr10:43572750..43572751 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.1509A>C (p.Thr503=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002390046]|Multiple endocrine neoplasia, type 2 [RCV003095260] | Chr10:43111452 [GRCh38] Chr10:43606900 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2247A>G (p.Arg749=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002428414] | Chr10:43116694 [GRCh38] Chr10:43612142 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.*6C>G | single nucleotide variant | RET-related condition [RCV003943352]|not provided [RCV003443028]|not specified [RCV002308640] | Chr10:43128275 [GRCh38] Chr10:43623723 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1079_1080delinsAA (p.Arg360Gln) | indel | Hereditary cancer-predisposing syndrome [RCV002423881] | Chr10:43109046..43109047 [GRCh38] Chr10:43604494..43604495 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1440A>G (p.Glu480=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002394347] | Chr10:43111383 [GRCh38] Chr10:43606831 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2718G>A (p.Val906=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002431241] | Chr10:43120191 [GRCh38] Chr10:43615639 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2084C>G (p.Pro695Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002423923] | Chr10:43114684 [GRCh38] Chr10:43610132 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2085C>A (p.Pro695=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002423938] | Chr10:43114685 [GRCh38] Chr10:43610133 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.821C>T (p.Ala274Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002427984] | Chr10:43105147 [GRCh38] Chr10:43600595 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1779A>C (p.Gly593=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002404026] | Chr10:43113575 [GRCh38] Chr10:43609023 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.177C>G (p.Ala59=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002404049] | Chr10:43100562 [GRCh38] Chr10:43596010 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1829A>C (p.Asn610Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002410487] | Chr10:43113625 [GRCh38] Chr10:43609073 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.512G>A (p.Arg171Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002344216] | Chr10:43102516 [GRCh38] Chr10:43597964 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2106C>T (p.Asn702=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002424305]|Multiple endocrine neoplasia, type 2 [RCV003645929] | Chr10:43114706 [GRCh38] Chr10:43610154 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2370G>A (p.Leu790=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002457774]|Multiple endocrine neoplasia, type 2 [RCV003111534] | Chr10:43118458 [GRCh38] Chr10:43613906 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1451T>C (p.Met484Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002394623]|Multiple endocrine neoplasia, type 2 [RCV003533227] | Chr10:43111394 [GRCh38] Chr10:43606842 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1611A>G (p.Pro537=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002400904] | Chr10:43112187 [GRCh38] Chr10:43607635 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.784G>A (p.Val262Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002412199] | Chr10:43105110 [GRCh38] Chr10:43600558 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2094C>G (p.Asp698Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002424081] | Chr10:43114694 [GRCh38] Chr10:43610142 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3187+3A>G | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002322804]|Multiple endocrine neoplasia, type 2 [RCV003533162] | Chr10:43126725 [GRCh38] Chr10:43622173 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2322A>G (p.Ser774=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002457572]|Multiple endocrine neoplasia, type 2 [RCV003098803] | Chr10:43118410 [GRCh38] Chr10:43613858 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2099T>C (p.Met700Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002424159]|Multiple endocrine neoplasia, type 2 [RCV003645928] | Chr10:43114699 [GRCh38] Chr10:43610147 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2363T>A (p.Ile788Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002450126] | Chr10:43118451 [GRCh38] Chr10:43613899 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1375G>C (p.Glu459Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002383804]|Multiple endocrine neoplasia, type 2 [RCV003645923] | Chr10:43111318 [GRCh38] Chr10:43606766 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.27G>C (p.Ala9=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002441573] | Chr10:43077285 [GRCh38] Chr10:43572733 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3220C>G (p.Pro1074Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002445482] | Chr10:43128144 [GRCh38] Chr10:43623592 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3171T>C (p.Ile1057=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002322642]|not provided [RCV003232609] | Chr10:43126706 [GRCh38] Chr10:43622154 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.1746T>G (p.Pro582=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002401509] | Chr10:43112950 [GRCh38] Chr10:43608398 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2397G>T (p.Pro799=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002450214] | Chr10:43119535 [GRCh38] Chr10:43614983 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.23C>T (p.Ala8Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002450247] | Chr10:43077281 [GRCh38] Chr10:43572729 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1914C>G (p.Ile638Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002410585] | Chr10:43114514 [GRCh38] Chr10:43609962 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.485C>T (p.Pro162Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002340333] | Chr10:43102489 [GRCh38] Chr10:43597937 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.235C>A (p.Arg79=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002448514] | Chr10:43100620 [GRCh38] Chr10:43596068 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2818C>T (p.Leu940=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002441770] | Chr10:43123687 [GRCh38] Chr10:43619135 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.421G>A (p.Gly141Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002328032]|Multiple endocrine neoplasia, type 2 [RCV003094587] | Chr10:43102425 [GRCh38] Chr10:43597873 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.522C>T (p.Phe174=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002340844]|Multiple endocrine neoplasia, type 2 [RCV003102708] | Chr10:43102526 [GRCh38] Chr10:43597974 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2187T>C (p.Thr729=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002425509] | Chr10:43116634 [GRCh38] Chr10:43612082 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.738C>G (p.His246Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002380435]|Multiple endocrine neoplasia, type 2 [RCV003776381] | Chr10:43105064 [GRCh38] Chr10:43600512 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1599C>A (p.Gly533=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002398571] | Chr10:43112175 [GRCh38] Chr10:43607623 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.333C>T (p.Val111=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002326570] | Chr10:43100718 [GRCh38] Chr10:43596166 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.183G>A (p.Glu61=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002412819] | Chr10:43100568 [GRCh38] Chr10:43596016 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1034G>A (p.Ser345Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002391685]|Multiple endocrine neoplasia, type 2 [RCV003645924] | Chr10:43106542 [GRCh38] Chr10:43601990 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3253A>T (p.Thr1085Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002445626] | Chr10:43128177 [GRCh38] Chr10:43623625 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.868-4G>T | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002373374]|Multiple endocrine neoplasia, type 2 [RCV003776528] | Chr10:43106372 [GRCh38] Chr10:43601820 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3217A>C (p.Ser1073Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002445443] | Chr10:43128141 [GRCh38] Chr10:43623589 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1760-2_1760-1del | deletion | Hereditary cancer-predisposing syndrome [RCV002401656]|not provided [RCV003134433] | Chr10:43113554..43113555 [GRCh38] Chr10:43609002..43609003 [GRCh37] Chr10:10q11.21 |
likely pathogenic |
NM_020975.6(RET):c.3223G>A (p.Val1075Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002445504]|Multiple endocrine neoplasia, type 2 [RCV003775081] | Chr10:43128147 [GRCh38] Chr10:43623595 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.735G>T (p.Val245=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002380304] | Chr10:43105061 [GRCh38] Chr10:43600509 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2421C>G (p.Ala807=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002450406] | Chr10:43119559 [GRCh38] Chr10:43615007 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1920C>A (p.Ala640=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002410699] | Chr10:43114520 [GRCh38] Chr10:43609968 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2199C>A (p.Gly733=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002425633] | Chr10:43116646 [GRCh38] Chr10:43612094 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2979C>A (p.Asp993Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002442173] | Chr10:43124922 [GRCh38] Chr10:43620370 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1296A>C (p.Ala432=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002380644] | Chr10:43111239 [GRCh38] Chr10:43606687 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.48G>A (p.Leu16=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002340636]|Multiple endocrine neoplasia, type 2 [RCV003096518] | Chr10:43077306 [GRCh38] Chr10:43572754 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.564C>A (p.Phe188Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002345166]|Hirschsprung disease, susceptibility to, 1 [RCV003471346]|Multiple endocrine neoplasia, type 2 [RCV003533185] | Chr10:43102568 [GRCh38] Chr10:43598016 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2695G>A (p.Val899Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002428964]|Multiple endocrine neoplasia, type 2 [RCV003533264] | Chr10:43120168 [GRCh38] Chr10:43615616 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1003C>T (p.Pro335Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002405591] | Chr10:43106511 [GRCh38] Chr10:43601959 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.874G>T (p.Val292Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002373552]|Multiple endocrine neoplasia, type 2 [RCV003645921] | Chr10:43106382 [GRCh38] Chr10:43601830 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1769T>G (p.Ile590Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002401785] | Chr10:43113565 [GRCh38] Chr10:43609013 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1109T>C (p.Met370Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002428857] | Chr10:43109076 [GRCh38] Chr10:43604524 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1715T>C (p.Val572Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002414751] | Chr10:43112919 [GRCh38] Chr10:43608367 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1575G>T (p.Arg525=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002405710] | Chr10:43112151 [GRCh38] Chr10:43607599 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.193A>T (p.Ser65Cys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002413153] | Chr10:43100578 [GRCh38] Chr10:43596026 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1947G>C (p.Ser649=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002413280] | Chr10:43114547 [GRCh38] Chr10:43609995 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1600C>G (p.Leu534Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002398687]|Multiple endocrine neoplasia, type 2 [RCV003096989] | Chr10:43112176 [GRCh38] Chr10:43607624 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2471C>A (p.Pro824His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002450612] | Chr10:43119609 [GRCh38] Chr10:43615057 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.55C>A (p.Leu19Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002344878] | Chr10:43077313 [GRCh38] Chr10:43572761 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1056T>C (p.His352=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002414780] | Chr10:43106564 [GRCh38] Chr10:43602012 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1511T>G (p.Val504Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002392226] | Chr10:43111454 [GRCh38] Chr10:43606902 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.674C>T (p.Thr225Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002377957]|Multiple endocrine neoplasia, type 2 [RCV003533193] | Chr10:43105000 [GRCh38] Chr10:43600448 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1536G>A (p.Glu512=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002403046]|Multiple endocrine neoplasia, type 2 [RCV003100708] | Chr10:43112112 [GRCh38] Chr10:43607560 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2288A>G (p.Asn763Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002446186] | Chr10:43118376 [GRCh38] Chr10:43613824 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.866A>C (p.Glu289Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002449664] | Chr10:43105192 [GRCh38] Chr10:43600640 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.192C>T (p.Pro64=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002410876] | Chr10:43100577 [GRCh38] Chr10:43596025 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1518G>T (p.Gly506=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002392365] | Chr10:43111461 [GRCh38] Chr10:43606909 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3138C>T (p.Ala1046=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002320664] | Chr10:43126673 [GRCh38] Chr10:43622121 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1725C>A (p.Thr575=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002399108] | Chr10:43112929 [GRCh38] Chr10:43608377 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3126C>A (p.Asp1042Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002320529]|Multiple endocrine neoplasia, type 2 [RCV003645909] | Chr10:43126661 [GRCh38] Chr10:43622109 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.760G>T (p.Val254Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002396209]|Multiple endocrine neoplasia, type 2 [RCV003099699] | Chr10:43105086 [GRCh38] Chr10:43600534 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1247C>T (p.Ala416Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002396233] | Chr10:43109214 [GRCh38] Chr10:43604662 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1540G>A (p.Gly514Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002403170]|Multiple endocrine neoplasia, type 2 [RCV003100710] | Chr10:43112116 [GRCh38] Chr10:43607564 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1230C>T (p.Leu410=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002369412]|Multiple endocrine neoplasia, type 2 [RCV003645917] | Chr10:43109197 [GRCh38] Chr10:43604645 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2441G>A (p.Gly814Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002455352]|Multiple endocrine neoplasia, type 2 [RCV003645931] | Chr10:43119579 [GRCh38] Chr10:43615027 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.477C>T (p.Ser159=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002330681] | Chr10:43102481 [GRCh38] Chr10:43597929 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1549C>A (p.Leu517Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002403317] | Chr10:43112125 [GRCh38] Chr10:43607573 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.246G>A (p.Glu82=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002455537] | Chr10:43100631 [GRCh38] Chr10:43596079 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2072G>T (p.Gly691Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002422164] | Chr10:43114672 [GRCh38] Chr10:43610120 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.824G>A (p.Gly275Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002430152]|Multiple endocrine neoplasia, type 2 [RCV003099884] | Chr10:43105150 [GRCh38] Chr10:43600598 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1671C>T (p.Thr557=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002405866] | Chr10:43112875 [GRCh38] Chr10:43608323 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1026C>G (p.Ala342=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002381017] | Chr10:43106534 [GRCh38] Chr10:43601982 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.315C>T (p.Ser105=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002320913] | Chr10:43100700 [GRCh38] Chr10:43596148 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.903A>G (p.Ala301=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002378452] | Chr10:43106411 [GRCh38] Chr10:43601859 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2545G>A (p.Gly849Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002455807] | Chr10:43119683 [GRCh38] Chr10:43615131 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3158C>T (p.Pro1053Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002320884]|Multiple endocrine neoplasia, type 2 [RCV003102315] | Chr10:43126693 [GRCh38] Chr10:43622141 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3160T>C (p.Ser1054Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002320940] | Chr10:43126695 [GRCh38] Chr10:43622143 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1550T>G (p.Leu517Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002403378]|Multiple endocrine neoplasia, type 2 [RCV003100719] | Chr10:43112126 [GRCh38] Chr10:43607574 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1554C>G (p.Ser518=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002403423] | Chr10:43112130 [GRCh38] Chr10:43607578 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2075C>A (p.Ala692Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002422199]|Multiple endocrine neoplasia, type 2 [RCV003098599] | Chr10:43114675 [GRCh38] Chr10:43610123 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.384A>T (p.Ser128=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002364109] | Chr10:43102388 [GRCh38] Chr10:43597836 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1877A>T (p.Gln626Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002302011] | Chr10:43113673 [GRCh38] Chr10:43609121 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1641T>C (p.Asp547=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002403566] | Chr10:43112217 [GRCh38] Chr10:43607665 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2393-4C>G | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002430651] | Chr10:43119527 [GRCh38] Chr10:43614975 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.947G>C (p.Ser316Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002443514] | Chr10:43106455 [GRCh38] Chr10:43601903 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2252G>A (p.Gly751Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002443568]|Multiple endocrine neoplasia, type 2 [RCV003098749] | Chr10:43116699 [GRCh38] Chr10:43612147 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2258C>A (p.Thr753Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002443654] | Chr10:43116705 [GRCh38] Chr10:43612153 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3243T>A (p.Asp1081Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002324810] | Chr10:43128167 [GRCh38] Chr10:43623615 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2846G>T (p.Gly949Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002298166] | Chr10:43123715 [GRCh38] Chr10:43619163 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2622C>T (p.Asp874=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002426413] | Chr10:43120095 [GRCh38] Chr10:43615543 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1158G>C (p.Ala386=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002357424]|Multiple endocrine neoplasia, type 2 [RCV003120914] | Chr10:43109125 [GRCh38] Chr10:43604573 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2512C>T (p.Leu838=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002432949] | Chr10:43119650 [GRCh38] Chr10:43615098 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1380C>G (p.Asp460Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002381155] | Chr10:43111323 [GRCh38] Chr10:43606771 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1528G>T (p.Ala510Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002400821] | Chr10:43112104 [GRCh38] Chr10:43607552 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1801G>A (p.Gly601Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002410009] | Chr10:43113597 [GRCh38] Chr10:43609045 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.139G>C (p.Gly47Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002389218] | Chr10:43100524 [GRCh38] Chr10:43595972 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3232A>G (p.Thr1078Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002324750] | Chr10:43128156 [GRCh38] Chr10:43623604 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1381A>T (p.Thr461Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002381170] | Chr10:43111324 [GRCh38] Chr10:43606772 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2975C>A (p.Pro992Gln) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002839562] | Chr10:43124918 [GRCh38] Chr10:43620366 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2883C>T (p.Phe961=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002880502] | Chr10:43123752 [GRCh38] Chr10:43619200 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1001G>A (p.Trp334Ter) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002863139] | Chr10:43106509 [GRCh38] Chr10:43601957 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.2905C>T (p.Arg969Trp) | single nucleotide variant | not provided [RCV002462599] | Chr10:43123774 [GRCh38] Chr10:43619222 [GRCh37] Chr10:10q11.21 |
likely pathogenic |
NM_020975.6(RET):c.2136+10C>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002731237] | Chr10:43114746 [GRCh38] Chr10:43610194 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2038G>T (p.Ala680Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002775459] | Chr10:43114638 [GRCh38] Chr10:43610086 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1453G>T (p.Val485Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003073857] | Chr10:43111396 [GRCh38] Chr10:43606844 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1317G>A (p.Gln439=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002685849] | Chr10:43111260 [GRCh38] Chr10:43606708 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1215C>G (p.Pro405=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002616420] | Chr10:43109182 [GRCh38] Chr10:43604630 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2567G>C (p.Trp856Ser) | single nucleotide variant | not provided [RCV002461782] | Chr10:43119705 [GRCh38] Chr10:43615153 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1883C>T (p.Pro628Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002972341] | Chr10:43114483 [GRCh38] Chr10:43609931 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2566T>C (p.Trp856Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002774833] | Chr10:43119704 [GRCh38] Chr10:43615152 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2989G>T (p.Val997Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003034177] | Chr10:43124932 [GRCh38] Chr10:43620380 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2608-14A>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003095390] | Chr10:43120067 [GRCh38] Chr10:43615515 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3188-16C>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003099015] | Chr10:43128096 [GRCh38] Chr10:43623544 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1682G>A (p.Ser561Asn) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002975642] | Chr10:43112886 [GRCh38] Chr10:43608334 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3209C>G (p.Pro1070Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002756511] | Chr10:43128133 [GRCh38] Chr10:43623581 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1932C>T (p.Phe644=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003034336] | Chr10:43114532 [GRCh38] Chr10:43609980 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3322T>G (p.Leu1108Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002756520] | Chr10:43128246 [GRCh38] Chr10:43623694 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3048G>C (p.Leu1016Phe) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003017578] | Chr10:43126583 [GRCh38] Chr10:43622031 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.968C>A (p.Thr323Asn) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002843831] | Chr10:43106476 [GRCh38] Chr10:43601924 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1648G>T (p.Gly550Trp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002903725] | Chr10:43112224 [GRCh38] Chr10:43607672 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2631C>T (p.Ala877=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002880414] | Chr10:43120104 [GRCh38] Chr10:43615552 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1523-14T>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002731144] | Chr10:43112085 [GRCh38] Chr10:43607533 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.868-17C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003076219] | Chr10:43106359 [GRCh38] Chr10:43601807 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1822A>G (p.Thr608Ala) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002731511] | Chr10:43113618 [GRCh38] Chr10:43609066 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.338-14A>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003013877] | Chr10:43102328 [GRCh38] Chr10:43597776 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1486G>T (p.Ala496Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002838868] | Chr10:43111429 [GRCh38] Chr10:43606877 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2458C>T (p.Arg820Cys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002726686] | Chr10:43119596 [GRCh38] Chr10:43615044 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2940-12T>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002771375] | Chr10:43124871 [GRCh38] Chr10:43620319 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2731-11C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003016481] | Chr10:43121935 [GRCh38] Chr10:43617383 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.187G>A (p.Val63Met) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002861993] | Chr10:43100572 [GRCh38] Chr10:43596020 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.56T>C (p.Leu19Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003170897]|Multiple endocrine neoplasia, type 2 [RCV003033756] | Chr10:43077314 [GRCh38] Chr10:43572762 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.351C>G (p.Pro117=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002995782] | Chr10:43102355 [GRCh38] Chr10:43597803 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1082A>T (p.Asn361Ile) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003074418] | Chr10:43109049 [GRCh38] Chr10:43604497 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1122G>A (p.Val374=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002771023] | Chr10:43109089 [GRCh38] Chr10:43604537 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.129C>G (p.Asp43Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003375669]|Multiple endocrine neoplasia, type 2 [RCV002686228] | Chr10:43100514 [GRCh38] Chr10:43595962 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1154G>A (p.Gly385Glu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002967552] | Chr10:43109121 [GRCh38] Chr10:43604569 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.73+18C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002972116] | Chr10:43077349 [GRCh38] Chr10:43572797 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1649-4G>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002816181] | Chr10:43112849 [GRCh38] Chr10:43608297 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1956_1965delinsACCACTCTACCACAAGTT (p.Ser653fs) | indel | Multiple endocrine neoplasia, type 2 [RCV002903757] | Chr10:43114556..43114565 [GRCh38] Chr10:43610004..43610013 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.3187+9T>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003015033] | Chr10:43126731 [GRCh38] Chr10:43622179 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.135_136delinsGT (p.Ala46Ser) | indel | Multiple endocrine neoplasia, type 2 [RCV002755660] | Chr10:43100520..43100521 [GRCh38] Chr10:43595968..43595969 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.73+11C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002996553] | Chr10:43077342 [GRCh38] Chr10:43572790 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1363G>T (p.Val455Phe) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003076811]|not specified [RCV003321972] | Chr10:43111306 [GRCh38] Chr10:43606754 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2137-384C>T | single nucleotide variant | not provided [RCV002511629] | Chr10:43116200 [GRCh38] Chr10:43611648 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.379C>T (p.Leu127=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002863609] | Chr10:43102383 [GRCh38] Chr10:43597831 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2284+18G>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003015748] | Chr10:43116749 [GRCh38] Chr10:43612197 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.733G>T (p.Val245Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002756985] | Chr10:43105059 [GRCh38] Chr10:43600507 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.396T>A (p.Leu132=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002662336] | Chr10:43102400 [GRCh38] Chr10:43597848 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1481G>A (p.Arg494Lys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003039455] | Chr10:43111424 [GRCh38] Chr10:43606872 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2392+11C>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002761669] | Chr10:43118491 [GRCh38] Chr10:43613939 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3030T>C (p.Val1010=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003039666] | Chr10:43124973 [GRCh38] Chr10:43620421 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1063+12T>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002914441] | Chr10:43106583 [GRCh38] Chr10:43602031 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.731C>A (p.Thr244Asn) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002740524] | Chr10:43105057 [GRCh38] Chr10:43600505 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.76G>A (p.Ala26Thr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002740314] | Chr10:43100461 [GRCh38] Chr10:43595909 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.815T>G (p.Phe272Cys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003357990]|Multiple endocrine neoplasia, type 2 [RCV002735400] | Chr10:43105141 [GRCh38] Chr10:43600589 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1131T>C (p.Asn377=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002889223] | Chr10:43109098 [GRCh38] Chr10:43604546 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.889C>A (p.Arg297Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003294398]|Multiple endocrine neoplasia, type 2 [RCV003055540] | Chr10:43106397 [GRCh38] Chr10:43601845 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2802-4G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003021605] | Chr10:43123667 [GRCh38] Chr10:43619115 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2607+15C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002740360] | Chr10:43119760 [GRCh38] Chr10:43615208 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2514G>C (p.Leu838=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003021658] | Chr10:43119652 [GRCh38] Chr10:43615100 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1065G>T (p.Arg355Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003078570] | Chr10:43109032 [GRCh38] Chr10:43604480 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.867+8T>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003039161] | Chr10:43105201 [GRCh38] Chr10:43600649 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1196C>G (p.Pro399Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002953486] | Chr10:43109163 [GRCh38] Chr10:43604611 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1824C>T (p.Thr608=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002706337] | Chr10:43113620 [GRCh38] Chr10:43609068 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1880-17A>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003079607] | Chr10:43114463 [GRCh38] Chr10:43609911 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.297G>A (p.Arg99=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003021996] | Chr10:43100682 [GRCh38] Chr10:43596130 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2731-15C>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002847793] | Chr10:43121931 [GRCh38] Chr10:43617379 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1044_1051dup (p.Val351fs) | duplication | Multiple endocrine neoplasia, type 2 [RCV003054991] | Chr10:43106549..43106550 [GRCh38] Chr10:43601997..43601998 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.3040-9G>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002975931] | Chr10:43126566 [GRCh38] Chr10:43622014 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2532G>A (p.Arg844=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003021984] | Chr10:43119670 [GRCh38] Chr10:43615118 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.930G>C (p.Leu310=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003167853]|Multiple endocrine neoplasia, type 2 [RCV002885004] | Chr10:43106438 [GRCh38] Chr10:43601886 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.369C>A (p.Leu123=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002868046] | Chr10:43102373 [GRCh38] Chr10:43597821 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1264-4del | deletion | Hereditary cancer-predisposing syndrome [RCV003308367]|Multiple endocrine neoplasia, type 2 [RCV002948872] | Chr10:43111198 [GRCh38] Chr10:43606646 [GRCh37] Chr10:10q11.21 |
benign|uncertain significance |
NM_020975.6(RET):c.337A>G (p.Asn113Asp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002909429] | Chr10:43100722 [GRCh38] Chr10:43596170 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.15G>A (p.Thr5=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002735243] | Chr10:43077273 [GRCh38] Chr10:43572721 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1360G>C (p.Val454Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002949006] | Chr10:43111303 [GRCh38] Chr10:43606751 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.868-15C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002637859] | Chr10:43106361 [GRCh38] Chr10:43601809 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.258C>A (p.Ile86=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002867316] | Chr10:43100643 [GRCh38] Chr10:43596091 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1880-3C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002866529] | Chr10:43114477 [GRCh38] Chr10:43609925 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2241A>G (p.Lys747=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002923680] | Chr10:43116688 [GRCh38] Chr10:43612136 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.117G>A (p.Lys39=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003018246] | Chr10:43100502 [GRCh38] Chr10:43595950 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1880-5C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003002689] | Chr10:43114475 [GRCh38] Chr10:43609923 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1063+17G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002662586] | Chr10:43106588 [GRCh38] Chr10:43602036 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2906G>A (p.Arg969Gln) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002761246] | Chr10:43123775 [GRCh38] Chr10:43619223 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1760-11T>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003019684] | Chr10:43113545 [GRCh38] Chr10:43608993 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2590T>C (p.Tyr864His) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002761641] | Chr10:43119728 [GRCh38] Chr10:43615176 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3302T>C (p.Leu1101Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003273988]|Multiple endocrine neoplasia, type 2 [RCV002691191] | Chr10:43128226 [GRCh38] Chr10:43623674 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.338-13C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003053134] | Chr10:43102329 [GRCh38] Chr10:43597777 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.716T>C (p.Leu239Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003167652]|Multiple endocrine neoplasia, type 2 [RCV002690928] | Chr10:43105042 [GRCh38] Chr10:43600490 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.436T>C (p.Tyr146His) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002867178] | Chr10:43102440 [GRCh38] Chr10:43597888 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3116C>G (p.Pro1039Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002591722] | Chr10:43126651 [GRCh38] Chr10:43622099 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.962G>A (p.Gly321Glu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002913291] | Chr10:43106470 [GRCh38] Chr10:43601918 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1759+10G>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002949726] | Chr10:43112973 [GRCh38] Chr10:43608421 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.830A>G (p.Asp277Gly) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002953008] | Chr10:43105156 [GRCh38] Chr10:43600604 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1901_1902delinsTT (p.Cys634Phe) | indel | Multiple endocrine neoplasia, type 2 [RCV002848185] | Chr10:43114501..43114502 [GRCh38] Chr10:43609949..43609950 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.2393-16del | deletion | Multiple endocrine neoplasia, type 2 [RCV002619239] | Chr10:43119511 [GRCh38] Chr10:43614959 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.1879+8G>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002736762] | Chr10:43113683 [GRCh38] Chr10:43609131 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2731-7T>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003038155] | Chr10:43121939 [GRCh38] Chr10:43617387 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2801+19C>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003077708] | Chr10:43122035 [GRCh38] Chr10:43617483 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1571G>A (p.Arg524Lys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002847726] | Chr10:43112147 [GRCh38] Chr10:43607595 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2801+19C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002820731] | Chr10:43122035 [GRCh38] Chr10:43617483 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1389G>A (p.Gly463=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002927447] | Chr10:43111332 [GRCh38] Chr10:43606780 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2436G>A (p.Leu812=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002979403] | Chr10:43119574 [GRCh38] Chr10:43615022 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2872G>C (p.Glu958Gln) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003054579] | Chr10:43123741 [GRCh38] Chr10:43619189 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2608-3C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002706731] | Chr10:43120078 [GRCh38] Chr10:43615526 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.337+8_337+9delinsTA | indel | Multiple endocrine neoplasia, type 2 [RCV002952968] | Chr10:43100730..43100731 [GRCh38] Chr10:43596178..43596179 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1626G>A (p.Glu542=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002620766] | Chr10:43112202 [GRCh38] Chr10:43607650 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2297C>A (p.Pro766Gln) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002999546] | Chr10:43118385 [GRCh38] Chr10:43613833 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1965C>G (p.Phe655Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002619118] | Chr10:43114565 [GRCh38] Chr10:43610013 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.395T>G (p.Leu132Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003040902] | Chr10:43102399 [GRCh38] Chr10:43597847 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2843G>C (p.Gly948Ala) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003005310] | Chr10:43123712 [GRCh38] Chr10:43619160 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3141C>T (p.Pro1047=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003167875]|Multiple endocrine neoplasia, type 2 [RCV002894998] | Chr10:43126676 [GRCh38] Chr10:43622124 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.204G>C (p.Leu68=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002575932] | Chr10:43100589 [GRCh38] Chr10:43596037 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.822G>A (p.Ala274=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002853199] | Chr10:43105148 [GRCh38] Chr10:43600596 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2730+16G>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003025162] | Chr10:43120219 [GRCh38] Chr10:43615667 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2689C>G (p.Arg897Gly) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002627200] | Chr10:43120162 [GRCh38] Chr10:43615610 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1027A>C (p.Asn343His) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003042817] | Chr10:43106535 [GRCh38] Chr10:43601983 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2136+6G>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002626602] | Chr10:43114742 [GRCh38] Chr10:43610190 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.910G>A (p.Val304Ile) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003085212] | Chr10:43106418 [GRCh38] Chr10:43601866 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1622G>A (p.Cys541Tyr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003041045] | Chr10:43112198 [GRCh38] Chr10:43607646 [GRCh37] Chr10:10q11.21 |
likely pathogenic |
NM_020975.6(RET):c.2534C>T (p.Ala845Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003274180]|Multiple endocrine neoplasia, type 2 [RCV003056542] | Chr10:43119672 [GRCh38] Chr10:43615120 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.546A>G (p.Pro182=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003056446] | Chr10:43102550 [GRCh38] Chr10:43597998 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3078C>A (p.Ser1026=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002642913] | Chr10:43126613 [GRCh38] Chr10:43622061 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.73+13G>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002663450] | Chr10:43077344 [GRCh38] Chr10:43572792 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.626-18T>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002890084] | Chr10:43104934 [GRCh38] Chr10:43600382 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.555C>A (p.Phe185Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003083502] | Chr10:43102559 [GRCh38] Chr10:43598007 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.73+14G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002802060] | Chr10:43077345 [GRCh38] Chr10:43572793 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1148G>A (p.Gly383Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003170855]|Multiple endocrine neoplasia, type 2 [RCV003005532] | Chr10:43109115 [GRCh38] Chr10:43604563 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.659G>C (p.Ser220Thr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002711527] | Chr10:43104985 [GRCh38] Chr10:43600433 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3325A>G (p.Met1109Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002624474] | Chr10:43128249 [GRCh38] Chr10:43623697 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.252C>T (p.Asn84=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003057216] | Chr10:43100637 [GRCh38] Chr10:43596085 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1969A>T (p.Ile657Phe) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002825782] | Chr10:43114569 [GRCh38] Chr10:43610017 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2451C>A (p.Arg817=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002786795] | Chr10:43119589 [GRCh38] Chr10:43615037 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1366A>G (p.Thr456Ala) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002890347] | Chr10:43111309 [GRCh38] Chr10:43606757 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.723C>G (p.Ala241=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002623976] | Chr10:43105049 [GRCh38] Chr10:43600497 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2318T>G (p.Leu773Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003059101] | Chr10:43118406 [GRCh38] Chr10:43613854 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3187+4G>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003007585] | Chr10:43126726 [GRCh38] Chr10:43622174 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1330T>C (p.Ser444Pro) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002700147] | Chr10:43111273 [GRCh38] Chr10:43606721 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1159G>A (p.Gly387Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002576137] | Chr10:43109126 [GRCh38] Chr10:43604574 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2253G>A (p.Gly751=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002918274] | Chr10:43116700 [GRCh38] Chr10:43612148 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3146C>G (p.Pro1049Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002701288] | Chr10:43126681 [GRCh38] Chr10:43622129 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3215A>G (p.Glu1072Gly) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002786729] | Chr10:43128139 [GRCh38] Chr10:43623587 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.375C>T (p.Val125=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002644129] | Chr10:43102379 [GRCh38] Chr10:43597827 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3076T>G (p.Ser1026Ala) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002828711] | Chr10:43126611 [GRCh38] Chr10:43622059 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.793G>A (p.Glu265Lys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003057496]|not provided [RCV003236947] | Chr10:43105119 [GRCh38] Chr10:43600567 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.471C>T (p.Cys157=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002958582] | Chr10:43102475 [GRCh38] Chr10:43597923 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2802-13del | deletion | Multiple endocrine neoplasia, type 2 [RCV003040867] | Chr10:43123656 [GRCh38] Chr10:43619104 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2130G>A (p.Lys710=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003023938] | Chr10:43114730 [GRCh38] Chr10:43610178 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.549C>T (p.Gly183=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002875577] | Chr10:43102553 [GRCh38] Chr10:43598001 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1064-17_1064-15del | microsatellite | Multiple endocrine neoplasia, type 2 [RCV002917677] | Chr10:43109010..43109012 [GRCh38] Chr10:43604458..43604460 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1463C>A (p.Thr488Asn) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003056183] | Chr10:43111406 [GRCh38] Chr10:43606854 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1452G>C (p.Met484Ile) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002643131] | Chr10:43111395 [GRCh38] Chr10:43606843 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2118G>A (p.Val706=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002890886] | Chr10:43114718 [GRCh38] Chr10:43610166 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1512G>A (p.Val504=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003041701] | Chr10:43111455 [GRCh38] Chr10:43606903 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1522+17G>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002711066] | Chr10:43111482 [GRCh38] Chr10:43606930 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1014C>G (p.Thr338=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003061865] | Chr10:43106522 [GRCh38] Chr10:43601970 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.73+13G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002962769] | Chr10:43077344 [GRCh38] Chr10:43572792 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3053T>G (p.Leu1018Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003308209]|Multiple endocrine neoplasia, type 2 [RCV002646991] | Chr10:43126588 [GRCh38] Chr10:43622036 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2392+11C>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002900155] | Chr10:43118491 [GRCh38] Chr10:43613939 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1880-14A>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002627632] | Chr10:43114466 [GRCh38] Chr10:43609914 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1491G>C (p.Gln497His) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003048783] | Chr10:43111434 [GRCh38] Chr10:43606882 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2262G>T (p.Thr754=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002675618] | Chr10:43116709 [GRCh38] Chr10:43612157 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1927_1929del (p.Leu643del) | deletion | Multiple endocrine neoplasia, type 2 [RCV003049336] | Chr10:43114525..43114527 [GRCh38] Chr10:43609973..43609975 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1116G>C (p.Leu372=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003048241] | Chr10:43109083 [GRCh38] Chr10:43604531 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1834T>C (p.Phe612Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003294495]|Multiple endocrine neoplasia, type 2 [RCV003090274] | Chr10:43113630 [GRCh38] Chr10:43609078 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2136+14C>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003091189] | Chr10:43114750 [GRCh38] Chr10:43610198 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.360C>T (p.Thr120=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003062254] | Chr10:43102364 [GRCh38] Chr10:43597812 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.726G>T (p.Val242=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002671459] | Chr10:43105052 [GRCh38] Chr10:43600500 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1075A>C (p.Asn359His) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002988518] | Chr10:43109042 [GRCh38] Chr10:43604490 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1285A>G (p.Asn429Asp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003086499] | Chr10:43111228 [GRCh38] Chr10:43606676 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3121G>A (p.Val1041Met) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002962526] | Chr10:43126656 [GRCh38] Chr10:43622104 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3187+16C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003087682] | Chr10:43126738 [GRCh38] Chr10:43622186 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.974C>T (p.Ala325Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003046872] | Chr10:43106482 [GRCh38] Chr10:43601930 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.625+16G>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003010048] | Chr10:43102645 [GRCh38] Chr10:43598093 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1760-19G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003060617] | Chr10:43113537 [GRCh38] Chr10:43608985 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2940-9T>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003062068] | Chr10:43124874 [GRCh38] Chr10:43620322 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.676C>G (p.Arg226Gly) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002833983] | Chr10:43105002 [GRCh38] Chr10:43600450 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.502C>G (p.Pro168Ala) | single nucleotide variant | Inborn genetic diseases [RCV002896040] | Chr10:43102506 [GRCh38] Chr10:43597954 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2536C>T (p.Leu846Phe) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003009455] | Chr10:43119674 [GRCh38] Chr10:43615122 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1003C>G (p.Pro335Ala) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002937435] | Chr10:43106511 [GRCh38] Chr10:43601959 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1078C>T (p.Arg360Trp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003062255] | Chr10:43109045 [GRCh38] Chr10:43604493 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1759+17C>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002856613] | Chr10:43112980 [GRCh38] Chr10:43608428 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3040-10T>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002629096] | Chr10:43126565 [GRCh38] Chr10:43622013 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2396C>A (p.Pro799Gln) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003028175] | Chr10:43119534 [GRCh38] Chr10:43614982 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2848A>C (p.Asn950His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003167949]|Multiple endocrine neoplasia, type 2 [RCV002937569] | Chr10:43123717 [GRCh38] Chr10:43619165 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2401C>T (p.Leu801Phe) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003048395] | Chr10:43119539 [GRCh38] Chr10:43614987 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1522+14C>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002856655] | Chr10:43111479 [GRCh38] Chr10:43606927 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.915T>A (p.Pro305=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003048398] | Chr10:43106423 [GRCh38] Chr10:43601871 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2802-10CT[2] | microsatellite | Multiple endocrine neoplasia, type 2 [RCV002939036] | Chr10:43123661..43123662 [GRCh38] Chr10:43619109..43619110 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2519A>T (p.His840Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003029168] | Chr10:43119657 [GRCh38] Chr10:43615105 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1129A>G (p.Asn377Asp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003089650] | Chr10:43109096 [GRCh38] Chr10:43604544 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2554A>T (p.Ile852Phe) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002963236] | Chr10:43119692 [GRCh38] Chr10:43615140 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1106C>A (p.Thr369Asn) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003031111] | Chr10:43109073 [GRCh38] Chr10:43604521 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.407A>G (p.Glu136Gly) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003010036] | Chr10:43102411 [GRCh38] Chr10:43597859 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2136+11C>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002877097] | Chr10:43114747 [GRCh38] Chr10:43610195 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1924G>A (p.Val642Ile) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002922930] | Chr10:43114524 [GRCh38] Chr10:43609972 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.278G>A (p.Gly93Asp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003047985] | Chr10:43100663 [GRCh38] Chr10:43596111 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2109G>C (p.Gln703His) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002770592] | Chr10:43114709 [GRCh38] Chr10:43610157 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3170T>A (p.Ile1057Asn) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002900435] | Chr10:43126705 [GRCh38] Chr10:43622153 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2327T>A (p.Phe776Tyr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002810652] | Chr10:43118415 [GRCh38] Chr10:43613863 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3190A>C (p.Met1064Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002900453] | Chr10:43128114 [GRCh38] Chr10:43623562 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1998G>A (p.Lys666=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003088375] | Chr10:43114598 [GRCh38] Chr10:43610046 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1264-13T>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002627595] | Chr10:43111194 [GRCh38] Chr10:43606642 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.153G>C (p.Leu51=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003061344] | Chr10:43100538 [GRCh38] Chr10:43595986 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.626-19_626-18del | deletion | Multiple endocrine neoplasia, type 2 [RCV002632361] | Chr10:43104933..43104934 [GRCh38] Chr10:43600381..43600382 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3149_3150delinsCT (p.Arg1050Pro) | indel | Multiple endocrine neoplasia, type 2 [RCV002812164] | Chr10:43126684..43126685 [GRCh38] Chr10:43622132..43622133 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.74-20C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002810482] | Chr10:43100439 [GRCh38] Chr10:43595887 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1518G>C (p.Gly506=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002933775] | Chr10:43111461 [GRCh38] Chr10:43606909 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.626-15C>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002937697] | Chr10:43104937 [GRCh38] Chr10:43600385 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1264-11T>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002631153] | Chr10:43111196 [GRCh38] Chr10:43606644 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.616C>T (p.Leu206Phe) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003086365] | Chr10:43102620 [GRCh38] Chr10:43598068 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.524G>T (p.Arg175Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003029649] | Chr10:43102528 [GRCh38] Chr10:43597976 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.626-8G>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002600696] | Chr10:43104944 [GRCh38] Chr10:43600392 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2975C>G (p.Pro992Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002899825] | Chr10:43124918 [GRCh38] Chr10:43620366 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1076A>G (p.Asn359Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003086962]|RET-related condition [RCV003943805] | Chr10:43109043 [GRCh38] Chr10:43604491 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1632G>A (p.Arg544=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003061156] | Chr10:43112208 [GRCh38] Chr10:43607656 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1893C>G (p.Asp631Glu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003047173] | Chr10:43114493 [GRCh38] Chr10:43609941 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2940-6C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002599147] | Chr10:43124877 [GRCh38] Chr10:43620325 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2802-10C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002601995] | Chr10:43123661 [GRCh38] Chr10:43619109 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3312A>G (p.Ser1104=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002629611] | Chr10:43128236 [GRCh38] Chr10:43623684 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2866C>T (p.Pro956Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003088760] | Chr10:43123735 [GRCh38] Chr10:43619183 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1861G>A (p.Glu621Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003377870]|Multiple endocrine neoplasia, type 2 [RCV003086137] | Chr10:43113657 [GRCh38] Chr10:43609105 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1523-6C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003087055] | Chr10:43112093 [GRCh38] Chr10:43607541 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.626-18T>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002647338] | Chr10:43104934 [GRCh38] Chr10:43600382 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.63_64delinsCT (p.Leu21_Leu22=) | indel | Multiple endocrine neoplasia, type 2 [RCV003011014] | Chr10:43077321..43077322 [GRCh38] Chr10:43572769..43572770 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2971_2972delinsAG (p.Glu991Arg) | indel | Multiple endocrine neoplasia, type 2 [RCV002770605] | Chr10:43124914..43124915 [GRCh38] Chr10:43620362..43620363 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1263+18G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002578619] | Chr10:43109248 [GRCh38] Chr10:43604696 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1522+16A>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002944187] | Chr10:43111481 [GRCh38] Chr10:43606929 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3071C>G (p.Ser1024Cys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002583483] | Chr10:43126606 [GRCh38] Chr10:43622054 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.366C>T (p.Tyr122=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002658048] | Chr10:43102370 [GRCh38] Chr10:43597818 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.337+6G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003093069] | Chr10:43100728 [GRCh38] Chr10:43596176 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.338-4G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003070145] | Chr10:43102338 [GRCh38] Chr10:43597786 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1147G>A (p.Gly383Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003052480] | Chr10:43109114 [GRCh38] Chr10:43604562 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.867+20G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002584802] | Chr10:43105213 [GRCh38] Chr10:43600661 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2533G>T (p.Ala845Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003294484]|Multiple endocrine neoplasia, type 2 [RCV003070233] | Chr10:43119671 [GRCh38] Chr10:43615119 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.271G>T (p.Asp91Tyr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002587610] | Chr10:43100656 [GRCh38] Chr10:43596104 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2731-5T>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002944263] | Chr10:43121941 [GRCh38] Chr10:43617389 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2136+17G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003070367] | Chr10:43114753 [GRCh38] Chr10:43610201 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.868-20A>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002633537] | Chr10:43106356 [GRCh38] Chr10:43601804 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1263+20C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002586917] | Chr10:43109250 [GRCh38] Chr10:43604698 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2940-11C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002943721] | Chr10:43124872 [GRCh38] Chr10:43620320 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.890G>C (p.Arg297Pro) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003052553] | Chr10:43106398 [GRCh38] Chr10:43601846 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.486C>G (p.Pro162=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002605942] | Chr10:43102490 [GRCh38] Chr10:43597938 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1263+15A>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002608799] | Chr10:43109245 [GRCh38] Chr10:43604693 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2284+4C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002589952] | Chr10:43116735 [GRCh38] Chr10:43612183 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2394C>T (p.Gly798=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003167535]|Multiple endocrine neoplasia, type 2 [RCV002635734] | Chr10:43119532 [GRCh38] Chr10:43614980 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2111T>A (p.Val704Asp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002590047] | Chr10:43114711 [GRCh38] Chr10:43610159 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.485C>G (p.Pro162Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003050708] | Chr10:43102489 [GRCh38] Chr10:43597937 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3040-3C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003050908] | Chr10:43126572 [GRCh38] Chr10:43622020 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1760_1761delinsAA (p.Arg587Gln) | indel | Multiple endocrine neoplasia, type 2 [RCV002603333] | Chr10:43113556..43113557 [GRCh38] Chr10:43609004..43609005 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.279C>T (p.Gly93=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003071441] | Chr10:43100664 [GRCh38] Chr10:43596112 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.39G>C (p.Leu13=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002605791] | Chr10:43077297 [GRCh38] Chr10:43572745 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2075_2076delinsAA (p.Ala692Glu) | indel | Multiple endocrine neoplasia, type 2 [RCV002589031] | Chr10:43114675..43114676 [GRCh38] Chr10:43610123..43610124 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3118C>T (p.Leu1040=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003067023] | Chr10:43126653 [GRCh38] Chr10:43622101 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1733T>C (p.Ile578Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003377899]|Multiple endocrine neoplasia, type 2 [RCV002611993] | Chr10:43112937 [GRCh38] Chr10:43608385 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1685C>T (p.Thr562Ile) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002635500] | Chr10:43112889 [GRCh38] Chr10:43608337 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1879+1del | deletion | Inborn genetic diseases [RCV002722656] | Chr10:43113674 [GRCh38] Chr10:43609122 [GRCh37] Chr10:10q11.21 |
likely pathogenic |
NM_020975.6(RET):c.1142T>G (p.Phe381Cys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002610618] | Chr10:43109109 [GRCh38] Chr10:43604557 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2424A>C (p.Lys808Asn) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV002814259] | Chr10:43119562 [GRCh38] Chr10:43615010 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2420C>G (p.Ala807Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003368065]|Multiple endocrine neoplasia, type 2a [RCV003154603] | Chr10:43119558 [GRCh38] Chr10:43615006 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2971G>A (p.Glu991Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003296593] | Chr10:43124914 [GRCh38] Chr10:43620362 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2899G>A (p.Gly967Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003296598] | Chr10:43123768 [GRCh38] Chr10:43619216 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2515G>C (p.Asp839His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003296599]|Multiple endocrine neoplasia, type 2 [RCV003533836] | Chr10:43119653 [GRCh38] Chr10:43615101 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2007C>A (p.Ile669=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003297657] | Chr10:43114607 [GRCh38] Chr10:43610055 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1055A>T (p.His352Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003297661] | Chr10:43106563 [GRCh38] Chr10:43602011 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1504G>T (p.Val502Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003297665] | Chr10:43111447 [GRCh38] Chr10:43606895 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3187+3A>T | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003297667] | Chr10:43126725 [GRCh38] Chr10:43622173 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.845T>G (p.Val282Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003297674] | Chr10:43105171 [GRCh38] Chr10:43600619 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3040G>T (p.Asp1014Tyr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003297677] | Chr10:43126575 [GRCh38] Chr10:43622023 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2010C>T (p.Ser670=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003297680] | Chr10:43114610 [GRCh38] Chr10:43610058 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3143T>C (p.Leu1048Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003297681] | Chr10:43126678 [GRCh38] Chr10:43622126 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.973G>C (p.Ala325Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003297682] | Chr10:43106481 [GRCh38] Chr10:43601929 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.853T>G (p.Phe285Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003297684] | Chr10:43105179 [GRCh38] Chr10:43600627 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1263+3G>A | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003172652]|Multiple endocrine neoplasia, type 2 [RCV003779596] | Chr10:43109233 [GRCh38] Chr10:43604681 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1063A>C (p.Arg355=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003172653] | Chr10:43106571 [GRCh38] Chr10:43602019 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1250G>C (p.Arg417Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003172654] | Chr10:43109217 [GRCh38] Chr10:43604665 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1032C>G (p.Gly344=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003172655]|Multiple endocrine neoplasia, type 2 [RCV003645941] | Chr10:43106540 [GRCh38] Chr10:43601988 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1365C>T (p.Val455=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003172656] | Chr10:43111308 [GRCh38] Chr10:43606756 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1368C>T (p.Thr456=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003172657] | Chr10:43111311 [GRCh38] Chr10:43606759 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.510A>G (p.Thr170=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003172658] | Chr10:43102514 [GRCh38] Chr10:43597962 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1334C>G (p.Ser445Cys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003172659]|Multiple endocrine neoplasia, type 2 [RCV003779597] | Chr10:43111277 [GRCh38] Chr10:43606725 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2529G>A (p.Glu843=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003172660]|Multiple endocrine neoplasia, type 2 [RCV003645942] | Chr10:43119667 [GRCh38] Chr10:43615115 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.264C>T (p.Ile88=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003172662] | Chr10:43100649 [GRCh38] Chr10:43596097 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2007C>T (p.Ile669=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003172663] | Chr10:43114607 [GRCh38] Chr10:43610055 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1874T>C (p.Ile625Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003172664]|Multiple endocrine neoplasia, type 2 [RCV003645943] | Chr10:43113670 [GRCh38] Chr10:43609118 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1269G>A (p.Gly423=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003172665]|Multiple endocrine neoplasia, type 2 [RCV003645944] | Chr10:43111212 [GRCh38] Chr10:43606660 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.44TGC[2] (p.Leu17_Leu19del) | microsatellite | Hereditary cancer-predisposing syndrome [RCV003172666] | Chr10:43077302..43077310 [GRCh38] Chr10:43572750..43572758 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3096C>T (p.Gly1032=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003172667]|Multiple endocrine neoplasia, type 2 [RCV003779598] | Chr10:43126631 [GRCh38] Chr10:43622079 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2047T>G (p.Phe683Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003172668] | Chr10:43114647 [GRCh38] Chr10:43610095 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1371A>G (p.Ser457=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003172675] | Chr10:43111314 [GRCh38] Chr10:43606762 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.704A>C (p.Glu235Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003172676] | Chr10:43105030 [GRCh38] Chr10:43600478 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2781C>T (p.Ile927=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003172677]|Multiple endocrine neoplasia, type 2 [RCV003779600] | Chr10:43121996 [GRCh38] Chr10:43617444 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1477T>G (p.Ser493Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003172678]|Multiple endocrine neoplasia, type 2 [RCV003779601] | Chr10:43111420 [GRCh38] Chr10:43606868 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1393C>T (p.Leu465=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003172679] | Chr10:43111336 [GRCh38] Chr10:43606784 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.717G>A (p.Leu239=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003172683]|Multiple endocrine neoplasia, type 2 [RCV003645945] | Chr10:43105043 [GRCh38] Chr10:43600491 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1336G>A (p.Gly446Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003176491] | Chr10:43111279 [GRCh38] Chr10:43606727 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.229C>G (p.Arg77Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003176492] | Chr10:43100614 [GRCh38] Chr10:43596062 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.923G>T (p.Gly308Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003216327] | Chr10:43106431 [GRCh38] Chr10:43601879 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1251C>G (p.Arg417=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003216328] | Chr10:43109218 [GRCh38] Chr10:43604666 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1467C>T (p.Asp489=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003216325]|Multiple endocrine neoplasia, type 2 [RCV003533824] | Chr10:43111410 [GRCh38] Chr10:43606858 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3288T>C (p.Tyr1096=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003216321]|Multiple endocrine neoplasia, type 2 [RCV003645947] | Chr10:43128212 [GRCh38] Chr10:43623660 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.999C>T (p.His333=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003216320] | Chr10:43106507 [GRCh38] Chr10:43601955 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3163A>T (p.Thr1055Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003216319] | Chr10:43126698 [GRCh38] Chr10:43622146 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1894G>C (p.Glu632Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003216318] | Chr10:43114494 [GRCh38] Chr10:43609942 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2263G>T (p.Val755Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003165293] | Chr10:43116710 [GRCh38] Chr10:43612158 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2304G>A (p.Glu768=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003172684] | Chr10:43118392 [GRCh38] Chr10:43613840 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2841A>C (p.Leu947=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003172687] | Chr10:43123710 [GRCh38] Chr10:43619158 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2_7dup (p.Ala2_Lys3insMetAla) | duplication | Hereditary cancer-predisposing syndrome [RCV003176489] | Chr10:43077254..43077255 [GRCh38] Chr10:43572702..43572703 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1182C>G (p.Asn394Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003165292] | Chr10:43109149 [GRCh38] Chr10:43604597 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.585C>T (p.Phe195=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003216324] | Chr10:43102589 [GRCh38] Chr10:43598037 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3128G>A (p.Cys1043Tyr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003216322] | Chr10:43126663 [GRCh38] Chr10:43622111 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2137-166G>A | single nucleotide variant | not provided [RCV003222670] | Chr10:43116418 [GRCh38] Chr10:43611866 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.499T>G (p.Phe167Val) | single nucleotide variant | not provided [RCV003214167] | Chr10:43102503 [GRCh38] Chr10:43597951 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2611G>C (p.Val871Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003172651] | Chr10:43120084 [GRCh38] Chr10:43615532 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.525_530dup (p.Arg177_Glu178insIleArg) | duplication | Hereditary cancer-predisposing syndrome [RCV003172671]|Multiple endocrine neoplasia, type 2 [RCV003779599] | Chr10:43102526..43102527 [GRCh38] Chr10:43597974..43597975 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1195C>T (p.Pro399Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003172672] | Chr10:43109162 [GRCh38] Chr10:43604610 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2414A>G (p.Glu805Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003172673] | Chr10:43119552 [GRCh38] Chr10:43615000 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1212G>A (p.Leu404=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003172674] | Chr10:43109179 [GRCh38] Chr10:43604627 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2414A>C (p.Glu805Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003172680]|Multiple endocrine neoplasia, type 2 [RCV003533821] | Chr10:43119552 [GRCh38] Chr10:43615000 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2853C>G (p.Pro951=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003172681] | Chr10:43123722 [GRCh38] Chr10:43619170 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1518G>A (p.Gly506=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003172685] | Chr10:43111461 [GRCh38] Chr10:43606909 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2052G>T (p.Pro684=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003172686] | Chr10:43114652 [GRCh38] Chr10:43610100 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.454A>G (p.Thr152Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003172688]|Multiple endocrine neoplasia, type 2 [RCV003779602] | Chr10:43102458 [GRCh38] Chr10:43597906 [GRCh37] Chr10:10q11.21 |
likely benign|uncertain significance |
NM_020975.6(RET):c.545C>T (p.Pro182Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003283599] | Chr10:43102549 [GRCh38] Chr10:43597997 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.562T>G (p.Phe188Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003283604] | Chr10:43102566 [GRCh38] Chr10:43598014 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.640T>G (p.Phe214Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003283605] | Chr10:43104966 [GRCh38] Chr10:43600414 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1104C>T (p.Arg368=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003283609] | Chr10:43109071 [GRCh38] Chr10:43604519 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1760G>A (p.Arg587Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003283612] | Chr10:43113556 [GRCh38] Chr10:43609004 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1456G>C (p.Val486Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003283620] | Chr10:43111399 [GRCh38] Chr10:43606847 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2730+4C>T | single nucleotide variant | not provided [RCV003227404] | Chr10:43120207 [GRCh38] Chr10:43615655 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2137-251A>G | single nucleotide variant | not provided [RCV003222669] | Chr10:43116333 [GRCh38] Chr10:43611781 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2002C>T (p.Pro668Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003216326] | Chr10:43114602 [GRCh38] Chr10:43610050 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2456G>A (p.Ser819Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003216323]|Multiple endocrine neoplasia, type 2 [RCV003645948] | Chr10:43119594 [GRCh38] Chr10:43615042 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1759+6C>T | single nucleotide variant | not provided [RCV003218899] | Chr10:43112969 [GRCh38] Chr10:43608417 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.214C>T (p.Leu72Phe) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003176493] | Chr10:43100599 [GRCh38] Chr10:43596047 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3190A>T (p.Met1064Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003172650] | Chr10:43128114 [GRCh38] Chr10:43623562 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2895G>T (p.Lys965Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003172669] | Chr10:43123764 [GRCh38] Chr10:43619212 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3312A>C (p.Ser1104=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003172670] | Chr10:43128236 [GRCh38] Chr10:43623684 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1971C>T (p.Ile657=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003172682] | Chr10:43114571 [GRCh38] Chr10:43610019 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.698A>G (p.Gln233Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003165291] | Chr10:43105024 [GRCh38] Chr10:43600472 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.488G>T (p.Arg163Leu) | single nucleotide variant | not provided [RCV003319646] | Chr10:43102492 [GRCh38] Chr10:43597940 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2940-26A>C | single nucleotide variant | not provided [RCV003322169] | Chr10:43124857 [GRCh38] Chr10:43620305 [GRCh37] Chr10:10q11.21 |
uncertain significance |
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) | copy number gain | Distal trisomy 10q [RCV003319593] | Chr10:11138692..135427143 [GRCh37] Chr10:10p14-q26.3 |
pathogenic |
NM_020975.6(RET):c.2393-29C>T | single nucleotide variant | not specified [RCV003322567] | Chr10:43119502 [GRCh38] Chr10:43614950 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.337+20A>C | single nucleotide variant | not specified [RCV003322564] | Chr10:43100742 [GRCh38] Chr10:43596190 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2260A>C (p.Thr754Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003283607] | Chr10:43116707 [GRCh38] Chr10:43612155 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2597C>G (p.Ala866Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003283608] | Chr10:43119735 [GRCh38] Chr10:43615183 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2832C>A (p.Ile944=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003283615] | Chr10:43123701 [GRCh38] Chr10:43619149 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.21T>C (p.Gly7=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003283617] | Chr10:43077279 [GRCh38] Chr10:43572727 [GRCh37] Chr10:10q11.21 |
likely benign |
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) | copy number loss | Distal 10q deletion syndrome [RCV003319583] | Chr10:12829206..135427143 [GRCh37] Chr10:10p13-q26.3 |
pathogenic |
NM_020975.6(RET):c.2776C>A (p.His926Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003305358] | Chr10:43121991 [GRCh38] Chr10:43617439 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.104C>G (p.Ala35Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003305361] | Chr10:43100489 [GRCh38] Chr10:43595937 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1824C>A (p.Thr608=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003305365]|Multiple endocrine neoplasia, type 2 [RCV003645952] | Chr10:43113620 [GRCh38] Chr10:43609068 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2895G>A (p.Lys965=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003305366]|Multiple endocrine neoplasia, type 2 [RCV003645953] | Chr10:43123764 [GRCh38] Chr10:43619212 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2765C>G (p.Ser922Cys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003305369] | Chr10:43121980 [GRCh38] Chr10:43617428 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1264-43C>T | single nucleotide variant | not specified [RCV003322565] | Chr10:43111164 [GRCh38] Chr10:43606612 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1522+20A>T | single nucleotide variant | not specified [RCV003322566] | Chr10:43111485 [GRCh38] Chr10:43606933 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1267G>T (p.Gly423Trp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003358163]|Multiple endocrine neoplasia, type 2a [RCV003325287] | Chr10:43111210 [GRCh38] Chr10:43606658 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.971G>A (p.Trp324Ter) | single nucleotide variant | RET-related disorders [RCV003335957] | Chr10:43106479 [GRCh38] Chr10:43601927 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.1031G>A (p.Gly344Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003361048] | Chr10:43106539 [GRCh38] Chr10:43601987 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1426C>T (p.Pro476Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003361050] | Chr10:43111369 [GRCh38] Chr10:43606817 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2125T>A (p.Phe709Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003361051]|Multiple endocrine neoplasia, type 2 [RCV003533851] | Chr10:43114725 [GRCh38] Chr10:43610173 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1533G>A (p.Glu511=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003361052] | Chr10:43112109 [GRCh38] Chr10:43607557 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2041C>T (p.Gln681Ter) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003361060] | Chr10:43114641 [GRCh38] Chr10:43610089 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.260G>A (p.Cys87Tyr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003361061] | Chr10:43100645 [GRCh38] Chr10:43596093 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.824G>T (p.Gly275Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003381018] | Chr10:43105150 [GRCh38] Chr10:43600598 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2115C>A (p.Ser705=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003361054] | Chr10:43114715 [GRCh38] Chr10:43610163 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2388G>T (p.Gln796His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003361049]|Multiple endocrine neoplasia, type 2 [RCV003533850] | Chr10:43118476 [GRCh38] Chr10:43613924 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2974C>G (p.Pro992Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003361053] | Chr10:43124917 [GRCh38] Chr10:43620365 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.241C>G (p.His81Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003361056] | Chr10:43100626 [GRCh38] Chr10:43596074 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2981A>G (p.Lys994Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003361057] | Chr10:43124924 [GRCh38] Chr10:43620372 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.977A>C (p.Gln326Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003361058] | Chr10:43106485 [GRCh38] Chr10:43601933 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1083C>T (p.Asn361=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003361059] | Chr10:43109050 [GRCh38] Chr10:43604498 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1718T>C (p.Val573Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003376779] | Chr10:43112922 [GRCh38] Chr10:43608370 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1886T>G (p.Leu629Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003376858]|Multiple endocrine neoplasia, type 2 [RCV003533853] | Chr10:43114486 [GRCh38] Chr10:43609934 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3299T>C (p.Met1100Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003376906]|Multiple endocrine neoplasia, type 2 [RCV003645957] | Chr10:43128223 [GRCh38] Chr10:43623671 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1258G>T (p.Ala420Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003376975] | Chr10:43109225 [GRCh38] Chr10:43604673 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.397C>G (p.Arg133Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003350827] | Chr10:43102401 [GRCh38] Chr10:43597849 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.208C>A (p.Gln70Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003350828] | Chr10:43100593 [GRCh38] Chr10:43596041 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1287C>T (p.Asn429=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003350821] | Chr10:43111230 [GRCh38] Chr10:43606678 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.652C>G (p.Pro218Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003350822]|Multiple endocrine neoplasia, type 2 [RCV003533849] | Chr10:43104978 [GRCh38] Chr10:43600426 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.510A>T (p.Thr170=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003350823] | Chr10:43102514 [GRCh38] Chr10:43597962 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.503C>A (p.Pro168Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003350824] | Chr10:43102507 [GRCh38] Chr10:43597955 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3309C>T (p.Pro1103=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003350825] | Chr10:43128233 [GRCh38] Chr10:43623681 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1550T>C (p.Leu517Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003350826] | Chr10:43112126 [GRCh38] Chr10:43607574 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3257G>C (p.Gly1086Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003350829] | Chr10:43128181 [GRCh38] Chr10:43623629 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1363G>C (p.Val455Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003350830] | Chr10:43111306 [GRCh38] Chr10:43606754 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.764T>C (p.Met255Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003386323]|Multiple endocrine neoplasia, type 2 [RCV003778068] | Chr10:43105090 [GRCh38] Chr10:43600538 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3020A>T (p.Lys1007Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003377693] | Chr10:43124963 [GRCh38] Chr10:43620411 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2331C>A (p.Asn777Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003377694] | Chr10:43118419 [GRCh38] Chr10:43613867 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1214C>G (p.Pro405Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003377695] | Chr10:43109181 [GRCh38] Chr10:43604629 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1291C>G (p.Gln431Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003377696] | Chr10:43111234 [GRCh38] Chr10:43606682 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.379C>A (p.Leu127Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003377697]|Multiple endocrine neoplasia, type 2 [RCV003533854] | Chr10:43102383 [GRCh38] Chr10:43597831 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3047T>C (p.Leu1016Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003377698] | Chr10:43126582 [GRCh38] Chr10:43622030 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.349C>G (p.Pro117Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003377977]|Multiple endocrine neoplasia, type 2 [RCV003533848] | Chr10:43102353 [GRCh38] Chr10:43597801 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.958C>A (p.Pro320Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003376938] | Chr10:43106466 [GRCh38] Chr10:43601914 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2120A>G (p.Asp707Gly) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003873115] | Chr10:43114720 [GRCh38] Chr10:43610168 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1303G>A (p.Gly435Ser) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV003463507]|Multiple endocrine neoplasia, type 2 [RCV003645964] | Chr10:43111246 [GRCh38] Chr10:43606694 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1289G>T (p.Cys430Phe) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003875136] | Chr10:43111232 [GRCh38] Chr10:43606680 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.341G>T (p.Arg114Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003875481] | Chr10:43102345 [GRCh38] Chr10:43597793 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.338-7T>G | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV003494519] | Chr10:43102335 [GRCh38] Chr10:43597783 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2853del (p.Tyr952fs) | deletion | RET-related condition [RCV003391420] | Chr10:43123719 [GRCh38] Chr10:43619167 [GRCh37] Chr10:10q11.21 |
likely pathogenic |
NM_020975.6(RET):c.2693A>T (p.Asp898Val) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV003463508] | Chr10:43120166 [GRCh38] Chr10:43615614 [GRCh37] Chr10:10q11.21 |
uncertain significance |
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 | copy number gain | not provided [RCV003484798] | Chr10:42709645..100834951 [GRCh37] Chr10:10q11.21-24.2 |
pathogenic |
NM_020975.6(RET):c.2870C>G (p.Pro957Arg) | single nucleotide variant | RET-related condition [RCV003400443] | Chr10:43123739 [GRCh38] Chr10:43619187 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2578_2579del (p.Gln860fs) | microsatellite | RET-related condition [RCV003402277] | Chr10:43119714..43119715 [GRCh38] Chr10:43615162..43615163 [GRCh37] Chr10:10q11.21 |
likely pathogenic |
NM_020975.6(RET):c.712G>C (p.Glu238Gln) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV003463505] | Chr10:43105038 [GRCh38] Chr10:43600486 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.737A>T (p.His246Leu) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV003463506] | Chr10:43105063 [GRCh38] Chr10:43600511 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2939+5G>A | single nucleotide variant | RET-related condition [RCV003406039] | Chr10:43123813 [GRCh38] Chr10:43619261 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.463C>T (p.Pro155Ser) | single nucleotide variant | RET-related condition [RCV003404331] | Chr10:43102467 [GRCh38] Chr10:43597915 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.208C>T (p.Gln70Ter) | single nucleotide variant | RET-related condition [RCV003412252] | Chr10:43100593 [GRCh38] Chr10:43596041 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.903_905dup (p.Ala301_Asp302insGlu) | duplication | RET-related condition [RCV003412332] | Chr10:43106410..43106411 [GRCh38] Chr10:43601858..43601859 [GRCh37] Chr10:10q11.21 |
likely pathogenic |
NM_020975.6(RET):c.983C>T (p.Thr328Ile) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV003463504] | Chr10:43106491 [GRCh38] Chr10:43601939 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3004A>G (p.Ser1002Gly) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV003463509] | Chr10:43124947 [GRCh38] Chr10:43620395 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2731-2A>G | single nucleotide variant | RET-related condition [RCV003402754] | Chr10:43121944 [GRCh38] Chr10:43617392 [GRCh37] Chr10:10q11.21 |
likely pathogenic |
NM_020975.6(RET):c.2140G>A (p.Asp714Asn) | single nucleotide variant | RET-related condition [RCV003410479] | Chr10:43116587 [GRCh38] Chr10:43612035 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2994T>G (p.Phe998Leu) | single nucleotide variant | RET-related condition [RCV003402538] | Chr10:43124937 [GRCh38] Chr10:43620385 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.664G>T (p.Glu222Ter) | single nucleotide variant | RET-related condition [RCV003400283] | Chr10:43104990 [GRCh38] Chr10:43600438 [GRCh37] Chr10:10q11.21 |
likely pathogenic |
NM_020975.6(RET):c.1879+355G>A | single nucleotide variant | not provided [RCV003417328] | Chr10:43114030 [GRCh38] Chr10:43609478 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2136+151G>A | single nucleotide variant | not provided [RCV003417329] | Chr10:43114887 [GRCh38] Chr10:43610335 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2136+509G>T | single nucleotide variant | not provided [RCV003417330] | Chr10:43115245 [GRCh38] Chr10:43610693 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2136+763G>A | single nucleotide variant | not provided [RCV003417331] | Chr10:43115499 [GRCh38] Chr10:43610947 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2450G>T (p.Arg817Leu) | single nucleotide variant | not provided [RCV003417332] | Chr10:43119588 [GRCh38] Chr10:43615036 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.*500C>T | single nucleotide variant | not provided [RCV003417333] | Chr10:43128769 [GRCh38] Chr10:43624217 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.169C>G (p.Arg57Gly) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646271] | Chr10:43100554 [GRCh38] Chr10:43596002 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1347C>A (p.Cys449Ter) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646334] | Chr10:43111290 [GRCh38] Chr10:43606738 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.1064-12C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646717] | Chr10:43109019 [GRCh38] Chr10:43604467 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2801+12T>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646769] | Chr10:43122028 [GRCh38] Chr10:43617476 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1263+12C>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003647008] | Chr10:43109242 [GRCh38] Chr10:43604690 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.339C>A (p.Asn113Lys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646951] | Chr10:43102343 [GRCh38] Chr10:43597791 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1879+7G>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003647069] | Chr10:43113682 [GRCh38] Chr10:43609130 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1880-11C>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003647138] | Chr10:43114469 [GRCh38] Chr10:43609917 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.834C>A (p.Thr278=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003647162] | Chr10:43105160 [GRCh38] Chr10:43600608 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.189G>A (p.Val63=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003647179] | Chr10:43100574 [GRCh38] Chr10:43596022 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1507A>G (p.Thr503Ala) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003647186] | Chr10:43111450 [GRCh38] Chr10:43606898 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2522C>A (p.Pro841Gln) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003647206] | Chr10:43119660 [GRCh38] Chr10:43615108 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1206G>A (p.Leu402=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003645995] | Chr10:43109173 [GRCh38] Chr10:43604621 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.73+16C>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003647051] | Chr10:43077347 [GRCh38] Chr10:43572795 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.73+16C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003647192] | Chr10:43077347 [GRCh38] Chr10:43572795 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.867+18C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646150] | Chr10:43105211 [GRCh38] Chr10:43600659 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.181G>A (p.Glu61Lys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003647194] | Chr10:43100566 [GRCh38] Chr10:43596014 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1482G>A (p.Arg494=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646164] | Chr10:43111425 [GRCh38] Chr10:43606873 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3157C>T (p.Pro1053Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646207] | Chr10:43126692 [GRCh38] Chr10:43622140 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.958C>G (p.Pro320Ala) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646156] | Chr10:43106466 [GRCh38] Chr10:43601914 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3188-19G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646695] | Chr10:43128093 [GRCh38] Chr10:43623541 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1264-20G>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646693] | Chr10:43111187 [GRCh38] Chr10:43606635 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1759+17C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646086] | Chr10:43112980 [GRCh38] Chr10:43608428 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2509T>G (p.Ser837Ala) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646768] | Chr10:43119647 [GRCh38] Chr10:43615095 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1875C>G (p.Ile625Met) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003881784] | Chr10:43113671 [GRCh38] Chr10:43609119 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1948G>A (p.Val650Met) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646222] | Chr10:43114548 [GRCh38] Chr10:43609996 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2788A>G (p.Thr930Ala) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646257] | Chr10:43122003 [GRCh38] Chr10:43617451 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.769C>T (p.Pro257Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646274] | Chr10:43105095 [GRCh38] Chr10:43600543 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2392+20G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646834] | Chr10:43118500 [GRCh38] Chr10:43613948 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.74-17T>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646850] | Chr10:43100442 [GRCh38] Chr10:43595890 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3303T>G (p.Leu1101=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003876981] | Chr10:43128227 [GRCh38] Chr10:43623675 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1755C>T (p.Cys585=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646247] | Chr10:43112959 [GRCh38] Chr10:43608407 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2875C>G (p.Arg959Gly) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646892] | Chr10:43123744 [GRCh38] Chr10:43619192 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2578C>G (p.Gln860Glu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646897] | Chr10:43119716 [GRCh38] Chr10:43615164 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1430A>C (p.Lys477Thr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646331] | Chr10:43111373 [GRCh38] Chr10:43606821 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2517C>G (p.Asp839Glu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646337] | Chr10:43119655 [GRCh38] Chr10:43615103 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3132T>G (p.Asn1044Lys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646936] | Chr10:43126667 [GRCh38] Chr10:43622115 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2898C>G (p.Thr966=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646994] | Chr10:43123767 [GRCh38] Chr10:43619215 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.902C>T (p.Ala301Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646388] | Chr10:43106410 [GRCh38] Chr10:43601858 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1097A>T (p.Glu366Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646416] | Chr10:43109064 [GRCh38] Chr10:43604512 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3173A>C (p.Glu1058Ala) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646961] | Chr10:43126708 [GRCh38] Chr10:43622156 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2648C>T (p.Ala883Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646957] | Chr10:43120121 [GRCh38] Chr10:43615569 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2859T>G (p.Pro953=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646527] | Chr10:43123728 [GRCh38] Chr10:43619176 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.350C>T (p.Pro117Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646571] | Chr10:43102354 [GRCh38] Chr10:43597802 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.5C>A (p.Ala2Glu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003647159] | Chr10:43077263 [GRCh38] Chr10:43572711 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2608-9del | deletion | Multiple endocrine neoplasia, type 2 [RCV003647165] | Chr10:43120068 [GRCh38] Chr10:43615516 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1649-14T>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646591] | Chr10:43112839 [GRCh38] Chr10:43608287 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1011G>A (p.Glu337=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003647178] | Chr10:43106519 [GRCh38] Chr10:43601967 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2496C>T (p.Ser832=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003645987] | Chr10:43119634 [GRCh38] Chr10:43615082 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1899_1900delinsTC (p.Cys634Arg) | indel | Multiple endocrine neoplasia, type 2 [RCV003645988] | Chr10:43114499..43114500 [GRCh38] Chr10:43609947..43609948 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.734T>G (p.Val245Gly) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003645989] | Chr10:43105060 [GRCh38] Chr10:43600508 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3223G>C (p.Val1075Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646002] | Chr10:43128147 [GRCh38] Chr10:43623595 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1523-19G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646660] | Chr10:43112080 [GRCh38] Chr10:43607528 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1280T>C (p.Val427Ala) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646719] | Chr10:43111223 [GRCh38] Chr10:43606671 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2932G>C (p.Glu978Gln) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646129] | Chr10:43123801 [GRCh38] Chr10:43619249 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.77C>T (p.Ala26Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003876184] | Chr10:43100462 [GRCh38] Chr10:43595910 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.261C>T (p.Cys87=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003647149] | Chr10:43100646 [GRCh38] Chr10:43596094 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2239A>C (p.Lys747Gln) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646574] | Chr10:43116686 [GRCh38] Chr10:43612134 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1759+16T>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646578] | Chr10:43112979 [GRCh38] Chr10:43608427 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1933T>C (p.Ser645Pro) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646579] | Chr10:43114533 [GRCh38] Chr10:43609981 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3183C>T (p.Leu1061=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646584] | Chr10:43126718 [GRCh38] Chr10:43622166 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.443_445del (p.Ser148del) | deletion | Multiple endocrine neoplasia, type 2 [RCV003647182]|RET-related condition [RCV003929340] | Chr10:43102445..43102447 [GRCh38] Chr10:43597893..43597895 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3039+11_3039+12delinsTC | indel | Multiple endocrine neoplasia, type 2 [RCV003646597] | Chr10:43124993..43124994 [GRCh38] Chr10:43620441..43620442 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.336C>A (p.Arg112=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646602] | Chr10:43100721 [GRCh38] Chr10:43596169 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3018G>C (p.Glu1006Asp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646623] | Chr10:43124961 [GRCh38] Chr10:43620409 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.73+9dup | duplication | Multiple endocrine neoplasia, type 2 [RCV003647216] | Chr10:43077339..43077340 [GRCh38] Chr10:43572787..43572788 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1064-9delinsGG | indel | Multiple endocrine neoplasia, type 2 [RCV003645968] | Chr10:43109022 [GRCh38] Chr10:43604470 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2137-8C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003645978] | Chr10:43116576 [GRCh38] Chr10:43612024 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.749G>T (p.Arg250Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003645980] | Chr10:43105075 [GRCh38] Chr10:43600523 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3187+1G>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003645985] | Chr10:43126723 [GRCh38] Chr10:43622171 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2940-20C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003645986] | Chr10:43124863 [GRCh38] Chr10:43620311 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3214G>C (p.Glu1072Gln) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646003] | Chr10:43128138 [GRCh38] Chr10:43623586 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2608-10T>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646010] | Chr10:43120071 [GRCh38] Chr10:43615519 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.34C>T (p.Arg12Cys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646040] | Chr10:43077292 [GRCh38] Chr10:43572740 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1361T>C (p.Val454Ala) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646672] | Chr10:43111304 [GRCh38] Chr10:43606752 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.593C>T (p.Pro198Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646114] | Chr10:43102597 [GRCh38] Chr10:43598045 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3058G>C (p.Ala1020Pro) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646746] | Chr10:43126593 [GRCh38] Chr10:43622041 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2313C>T (p.Asp771=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646696] | Chr10:43118401 [GRCh38] Chr10:43613849 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1649-20C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646691] | Chr10:43112833 [GRCh38] Chr10:43608281 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1091_1104del (p.Ile364fs) | deletion | Multiple endocrine neoplasia, type 2 [RCV003646748] | Chr10:43109058..43109071 [GRCh38] Chr10:43604506..43604519 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.43_48dup (p.Leu19_Pro20insLeuLeu) | duplication | Multiple endocrine neoplasia, type 2 [RCV003882073] | Chr10:43077295..43077296 [GRCh38] Chr10:43572743..43572744 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1064-13C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646154] | Chr10:43109018 [GRCh38] Chr10:43604466 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1483C>A (p.Gln495Lys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646215] | Chr10:43111426 [GRCh38] Chr10:43606874 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.269A>G (p.Glu90Gly) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646221] | Chr10:43100654 [GRCh38] Chr10:43596102 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1323G>A (p.Lys441=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646226] | Chr10:43111266 [GRCh38] Chr10:43606714 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2939+4_2939+5del | deletion | Multiple endocrine neoplasia, type 2 [RCV003646232] | Chr10:43123811..43123812 [GRCh38] Chr10:43619259..43619260 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.262A>C (p.Ile88Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646258] | Chr10:43100647 [GRCh38] Chr10:43596095 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2607+20C>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646263] | Chr10:43119765 [GRCh38] Chr10:43615213 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1517G>A (p.Gly506Glu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646268] | Chr10:43111460 [GRCh38] Chr10:43606908 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2392+13G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646844] | Chr10:43118493 [GRCh38] Chr10:43613941 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.505G>C (p.Glu169Gln) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646303] | Chr10:43102509 [GRCh38] Chr10:43597957 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1160del (p.Gly387fs) | deletion | Multiple endocrine neoplasia, type 2 [RCV003646305] | Chr10:43109125 [GRCh38] Chr10:43604573 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.2801+15T>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646318] | Chr10:43122031 [GRCh38] Chr10:43617479 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2730+7A>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646857] | Chr10:43120210 [GRCh38] Chr10:43615658 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1738A>C (p.Ile580Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646243] | Chr10:43112942 [GRCh38] Chr10:43608390 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2393-20C>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646327] | Chr10:43119511 [GRCh38] Chr10:43614959 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1170G>C (p.Leu390Phe) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646867] | Chr10:43109137 [GRCh38] Chr10:43604585 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1879+17C>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646405] | Chr10:43113692 [GRCh38] Chr10:43609140 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1961C>T (p.Ala654Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003647012] | Chr10:43114561 [GRCh38] Chr10:43610009 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2211A>C (p.Lys737Asn) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003828067] | Chr10:43116658 [GRCh38] Chr10:43612106 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2194G>A (p.Glu732Lys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646420] | Chr10:43116641 [GRCh38] Chr10:43612089 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.549C>G (p.Gly183=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646297] | Chr10:43102553 [GRCh38] Chr10:43598001 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2284+17G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646963] | Chr10:43116748 [GRCh38] Chr10:43612196 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2393-12C>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646962] | Chr10:43119519 [GRCh38] Chr10:43614967 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1063+6del | deletion | Multiple endocrine neoplasia, type 2 [RCV003646238] | Chr10:43106577 [GRCh38] Chr10:43602025 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2822T>C (p.Leu941Pro) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646351] | Chr10:43123691 [GRCh38] Chr10:43619139 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.635T>C (p.Leu212Pro) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646615] | Chr10:43104961 [GRCh38] Chr10:43600409 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1522+16A>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646461] | Chr10:43111481 [GRCh38] Chr10:43606929 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2472T>C (p.Pro824=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003647031] | Chr10:43119610 [GRCh38] Chr10:43615058 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1226C>G (p.Ser409Cys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646393] | Chr10:43109193 [GRCh38] Chr10:43604641 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2955G>A (p.Leu985=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646455] | Chr10:43124898 [GRCh38] Chr10:43620346 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1007A>G (p.Asn336Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646663] | Chr10:43106515 [GRCh38] Chr10:43601963 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1527G>T (p.Val509=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646674] | Chr10:43112103 [GRCh38] Chr10:43607551 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.429C>T (p.Ala143=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003647095] | Chr10:43102433 [GRCh38] Chr10:43597881 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3182T>A (p.Leu1061His) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003647116] | Chr10:43126717 [GRCh38] Chr10:43622165 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2143C>G (p.Pro715Ala) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646442] | Chr10:43116590 [GRCh38] Chr10:43612038 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.702G>T (p.Arg234=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646724] | Chr10:43105028 [GRCh38] Chr10:43600476 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2285-14G>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003647119] | Chr10:43118359 [GRCh38] Chr10:43613807 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2369T>C (p.Leu790Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646532] | Chr10:43118457 [GRCh38] Chr10:43613905 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3185A>C (p.Tyr1062Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003878481] | Chr10:43126720 [GRCh38] Chr10:43622168 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2607+12T>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646698] | Chr10:43119757 [GRCh38] Chr10:43615205 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2573T>C (p.Ile858Thr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646756] | Chr10:43119711 [GRCh38] Chr10:43615159 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1028A>G (p.Asn343Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003647061] | Chr10:43106536 [GRCh38] Chr10:43601984 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.675_676delinsTT (p.Arg226Cys) | indel | Multiple endocrine neoplasia, type 2 [RCV003646462] | Chr10:43105001..43105002 [GRCh38] Chr10:43600449..43600450 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.749G>A (p.Arg250His) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646774] | Chr10:43105075 [GRCh38] Chr10:43600523 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3133A>T (p.Asn1045Tyr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646783] | Chr10:43126668 [GRCh38] Chr10:43622116 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3322T>C (p.Leu1108=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003647198] | Chr10:43128246 [GRCh38] Chr10:43623694 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.867+17G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646798] | Chr10:43105210 [GRCh38] Chr10:43600658 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1578G>A (p.Leu526=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003645981] | Chr10:43112154 [GRCh38] Chr10:43607602 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1733T>A (p.Ile578Asn) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646022] | Chr10:43112937 [GRCh38] Chr10:43608385 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.867+19T>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646024] | Chr10:43105212 [GRCh38] Chr10:43600660 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3187+13A>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646037] | Chr10:43126735 [GRCh38] Chr10:43622183 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.74-18C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646039] | Chr10:43100441 [GRCh38] Chr10:43595889 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.338-10C>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646072] | Chr10:43102332 [GRCh38] Chr10:43597780 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3033G>A (p.Lys1011=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646065] | Chr10:43124976 [GRCh38] Chr10:43620424 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.336C>T (p.Arg112=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646906] | Chr10:43100721 [GRCh38] Chr10:43596169 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.867+6T>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003877334] | Chr10:43105199 [GRCh38] Chr10:43600647 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.773T>A (p.Phe258Tyr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646153] | Chr10:43105099 [GRCh38] Chr10:43600547 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3266G>A (p.Arg1089Lys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646097] | Chr10:43128190 [GRCh38] Chr10:43623638 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3282T>C (p.Ser1094=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646925] | Chr10:43128206 [GRCh38] Chr10:43623654 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2392+17G>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646091] | Chr10:43118497 [GRCh38] Chr10:43613945 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1064-8A>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646080] | Chr10:43109023 [GRCh38] Chr10:43604471 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.73+15C>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646304] | Chr10:43077346 [GRCh38] Chr10:43572794 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.759G>A (p.Val253=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646239] | Chr10:43105085 [GRCh38] Chr10:43600533 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1880-13C>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646869] | Chr10:43114467 [GRCh38] Chr10:43609915 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.868-9A>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646866] | Chr10:43106367 [GRCh38] Chr10:43601815 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.505G>A (p.Glu169Lys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646201] | Chr10:43102509 [GRCh38] Chr10:43597957 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.73+3G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646231] | Chr10:43077334 [GRCh38] Chr10:43572782 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2393-6C>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003646345] | Chr10:43119525 [GRCh38] Chr10:43614973 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.907G>C (p.Val303Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003532377] | Chr10:43106415 [GRCh38] Chr10:43601863 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.108C>T (p.Tyr36=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003533999] | Chr10:43100493 [GRCh38] Chr10:43595941 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2392+14C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003534019] | Chr10:43118494 [GRCh38] Chr10:43613942 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1063+6_1063+7del | microsatellite | Multiple endocrine neoplasia, type 2 [RCV003534059] | Chr10:43106575..43106576 [GRCh38] Chr10:43602023..43602024 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1264-9C>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003534077] | Chr10:43111198 [GRCh38] Chr10:43606646 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1218T>C (p.Ser406=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003532418] | Chr10:43109185 [GRCh38] Chr10:43604633 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1240_1251del (p.Arg415_Arg418del) | deletion | Multiple endocrine neoplasia, type 2 [RCV003534053] | Chr10:43109205..43109216 [GRCh38] Chr10:43604653..43604664 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.503C>T (p.Pro168Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003534139] | Chr10:43102507 [GRCh38] Chr10:43597955 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1052T>C (p.Val351Ala) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003532395] | Chr10:43106560 [GRCh38] Chr10:43602008 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2019G>A (p.Glu673=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003534081] | Chr10:43114619 [GRCh38] Chr10:43610067 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1606_1617del (p.Ser536_Gly539del) | deletion | Multiple endocrine neoplasia, type 2 [RCV003532463] | Chr10:43112179..43112190 [GRCh38] Chr10:43607627..43607638 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1747C>A (p.Gln583Lys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003532542] | Chr10:43112951 [GRCh38] Chr10:43608399 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1698del (p.Asp567fs) | deletion | Multiple endocrine neoplasia, type 2 [RCV003532511] | Chr10:43112899 [GRCh38] Chr10:43608347 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.868-13C>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003534158] | Chr10:43106363 [GRCh38] Chr10:43601811 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2056A>G (p.Ser686Gly) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003532494] | Chr10:43114656 [GRCh38] Chr10:43610104 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.541C>T (p.Pro181Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003532513] | Chr10:43102545 [GRCh38] Chr10:43597993 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1063+6A>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003532537] | Chr10:43106577 [GRCh38] Chr10:43602025 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.435A>G (p.Val145=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003534194] | Chr10:43102439 [GRCh38] Chr10:43597887 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2791C>A (p.Gln931Lys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003534244] | Chr10:43122006 [GRCh38] Chr10:43617454 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2426A>C (p.Tyr809Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003532472] | Chr10:43119564 [GRCh38] Chr10:43615012 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.833C>G (p.Thr278Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003534196] | Chr10:43105159 [GRCh38] Chr10:43600607 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.647G>A (p.Cys216Tyr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003833216] | Chr10:43104973 [GRCh38] Chr10:43600421 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2607+11A>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531446] | Chr10:43119756 [GRCh38] Chr10:43615204 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.867+14C>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531472] | Chr10:43105207 [GRCh38] Chr10:43600655 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.6G>T (p.Ala2=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531524] | Chr10:43077264 [GRCh38] Chr10:43572712 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.572T>A (p.Leu191Gln) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531496] | Chr10:43102576 [GRCh38] Chr10:43598024 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2133C>A (p.Ile711=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531533] | Chr10:43114733 [GRCh38] Chr10:43610181 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1806T>G (p.Ile602Met) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531697] | Chr10:43113602 [GRCh38] Chr10:43609050 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1791G>A (p.Gly597=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531710] | Chr10:43113587 [GRCh38] Chr10:43609035 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.337+19C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531765] | Chr10:43100741 [GRCh38] Chr10:43596189 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2257A>C (p.Thr753Pro) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531771] | Chr10:43116704 [GRCh38] Chr10:43612152 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2838C>G (p.Thr946=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003533869] | Chr10:43123707 [GRCh38] Chr10:43619155 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3144C>G (p.Leu1048=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003533882] | Chr10:43126679 [GRCh38] Chr10:43622127 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1880-12C>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003835821] | Chr10:43114468 [GRCh38] Chr10:43609916 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1649-20C>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531855] | Chr10:43112833 [GRCh38] Chr10:43608281 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1113G>A (p.Gln371=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003533884] | Chr10:43109080 [GRCh38] Chr10:43604528 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.685C>T (p.Leu229=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531898] | Chr10:43105011 [GRCh38] Chr10:43600459 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1264-6C>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003533932] | Chr10:43111201 [GRCh38] Chr10:43606649 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1063+20del | deletion | Multiple endocrine neoplasia, type 2 [RCV003533951] | Chr10:43106591 [GRCh38] Chr10:43602039 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.507G>C (p.Glu169Asp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003533972] | Chr10:43102511 [GRCh38] Chr10:43597959 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2647G>C (p.Ala883Pro) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003533955] | Chr10:43120120 [GRCh38] Chr10:43615568 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2137-6A>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003533981] | Chr10:43116578 [GRCh38] Chr10:43612026 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.610T>A (p.Tyr204Asn) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003533991] | Chr10:43102614 [GRCh38] Chr10:43598062 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1879+11G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003532447] | Chr10:43113686 [GRCh38] Chr10:43609134 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1263+8C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003532466] | Chr10:43109238 [GRCh38] Chr10:43604686 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3187+15_3187+16delinsTT | indel | Multiple endocrine neoplasia, type 2 [RCV003532467] | Chr10:43126737..43126738 [GRCh38] Chr10:43622185..43622186 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.771C>T (p.Pro257=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003534155] | Chr10:43105097 [GRCh38] Chr10:43600545 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.634C>G (p.Leu212Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003534176] | Chr10:43104960 [GRCh38] Chr10:43600408 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1076A>C (p.Asn359Thr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531527] | Chr10:43109043 [GRCh38] Chr10:43604491 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1647A>C (p.Lys549Asn) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531528] | Chr10:43112223 [GRCh38] Chr10:43607671 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2801+7G>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531529] | Chr10:43122023 [GRCh38] Chr10:43617471 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3310T>C (p.Ser1104Pro) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531534] | Chr10:43128234 [GRCh38] Chr10:43623682 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1447T>C (p.Tyr483His) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531536] | Chr10:43111390 [GRCh38] Chr10:43606838 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2285-20T>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003832407] | Chr10:43118353 [GRCh38] Chr10:43613801 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2939+10dup | duplication | Multiple endocrine neoplasia, type 2 [RCV003534125] | Chr10:43123814..43123815 [GRCh38] Chr10:43619262..43619263 [GRCh37] Chr10:10q11.21 |
benign |
NM_020975.6(RET):c.817C>T (p.Pro273Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003534195] | Chr10:43105143 [GRCh38] Chr10:43600591 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1763G>A (p.Gly588Asp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531556] | Chr10:43113559 [GRCh38] Chr10:43609007 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1760-6C>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531561] | Chr10:43113550 [GRCh38] Chr10:43608998 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2136+13G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531575] | Chr10:43114749 [GRCh38] Chr10:43610197 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1671C>A (p.Thr557=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003532490] | Chr10:43112875 [GRCh38] Chr10:43608323 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.73+15C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003534119] | Chr10:43077346 [GRCh38] Chr10:43572794 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2231T>C (p.Phe744Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003534234] | Chr10:43116678 [GRCh38] Chr10:43612126 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2285-16C>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003534114] | Chr10:43118357 [GRCh38] Chr10:43613805 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.73+19C>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003534252] | Chr10:43077350 [GRCh38] Chr10:43572798 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.28G>A (p.Gly10Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003534112] | Chr10:43077286 [GRCh38] Chr10:43572734 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3281G>T (p.Ser1094Ile) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531698] | Chr10:43128205 [GRCh38] Chr10:43623653 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.841G>A (p.Ala281Thr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003850519] | Chr10:43105167 [GRCh38] Chr10:43600615 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1030G>C (p.Gly344Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531769] | Chr10:43106538 [GRCh38] Chr10:43601986 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2616T>C (p.His872=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531788] | Chr10:43120089 [GRCh38] Chr10:43615537 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2756C>A (p.Ala919Glu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531798] | Chr10:43121971 [GRCh38] Chr10:43617419 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.867+17_867+18del | deletion | Multiple endocrine neoplasia, type 2 [RCV003854862] | Chr10:43105210..43105211 [GRCh38] Chr10:43600658..43600659 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3118C>G (p.Leu1040Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531843] | Chr10:43126653 [GRCh38] Chr10:43622101 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2802-19_2802-18insC | insertion | Multiple endocrine neoplasia, type 2 [RCV003531844] | Chr10:43123652..43123653 [GRCh38] Chr10:43619100..43619101 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.609C>A (p.Ala203=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003533909] | Chr10:43102613 [GRCh38] Chr10:43598061 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.367C>A (p.Leu123Ile) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531876] | Chr10:43102371 [GRCh38] Chr10:43597819 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.255G>A (p.Trp85Ter) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003533956] | Chr10:43100640 [GRCh38] Chr10:43596088 [GRCh37] Chr10:10q11.21 |
pathogenic |
NM_020975.6(RET):c.1879+11_1879+12dup | duplication | Multiple endocrine neoplasia, type 2 [RCV003533960] | Chr10:43113685..43113686 [GRCh38] Chr10:43609133..43609134 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1648+19C>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003839315] | Chr10:43112243 [GRCh38] Chr10:43607691 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.867+10C>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003533982] | Chr10:43105203 [GRCh38] Chr10:43600651 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.186G>C (p.Glu62Asp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003533984] | Chr10:43100571 [GRCh38] Chr10:43596019 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3106G>C (p.Glu1036Gln) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003533994] | Chr10:43126641 [GRCh38] Chr10:43622089 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.444C>T (p.Ser148=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003534004] | Chr10:43102448 [GRCh38] Chr10:43597896 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2982A>G (p.Lys994=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003534029] | Chr10:43124925 [GRCh38] Chr10:43620373 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2722A>C (p.Arg908=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003532392] | Chr10:43120195 [GRCh38] Chr10:43615643 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1335T>A (p.Ser445=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003534068] | Chr10:43111278 [GRCh38] Chr10:43606726 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1759+12T>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003532397] | Chr10:43112975 [GRCh38] Chr10:43608423 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.882C>T (p.Ala294=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003532431] | Chr10:43106390 [GRCh38] Chr10:43601838 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1678C>G (p.Pro560Ala) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003534087] | Chr10:43112882 [GRCh38] Chr10:43608330 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2802-17C>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003534088] | Chr10:43123654 [GRCh38] Chr10:43619102 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3133A>G (p.Asn1045Asp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003534143] | Chr10:43126668 [GRCh38] Chr10:43622116 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1524T>C (p.Tyr508=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531467] | Chr10:43112100 [GRCh38] Chr10:43607548 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.398G>T (p.Arg133Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531519] | Chr10:43102402 [GRCh38] Chr10:43597850 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2284+18G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531665] | Chr10:43116749 [GRCh38] Chr10:43612197 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.338-17C>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531728] | Chr10:43102325 [GRCh38] Chr10:43597773 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.944C>T (p.Thr315Ile) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531803] | Chr10:43106452 [GRCh38] Chr10:43601900 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1759+7A>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003533883] | Chr10:43112970 [GRCh38] Chr10:43608418 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1738A>G (p.Ile580Val) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003532409] | Chr10:43112942 [GRCh38] Chr10:43608390 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2377G>A (p.Ala793Thr) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003534094] | Chr10:43118465 [GRCh38] Chr10:43613913 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3097C>T (p.Leu1033Phe) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003532433] | Chr10:43126632 [GRCh38] Chr10:43622080 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.624G>C (p.Glu208Asp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003534177] | Chr10:43102628 [GRCh38] Chr10:43598076 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3040-13C>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531452] | Chr10:43126562 [GRCh38] Chr10:43622010 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.338-9T>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003532435] | Chr10:43102333 [GRCh38] Chr10:43597781 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.19G>C (p.Gly7Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003534166] | Chr10:43077277 [GRCh38] Chr10:43572725 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2940-9T>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531523] | Chr10:43124874 [GRCh38] Chr10:43620322 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2940G>A (p.Met980Ile) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531526] | Chr10:43124883 [GRCh38] Chr10:43620331 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.625+14T>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003532459] | Chr10:43102643 [GRCh38] Chr10:43598091 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1087T>C (p.Ser363Pro) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003532502] | Chr10:43109054 [GRCh38] Chr10:43604502 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.958C>T (p.Pro320Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003532541] | Chr10:43106466 [GRCh38] Chr10:43601914 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1882_1890dup (p.Cys630_Asp631insProLeuCys) | duplication | Multiple endocrine neoplasia, type 2 [RCV003534126] | Chr10:43114481..43114482 [GRCh38] Chr10:43609929..43609930 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2137-18C>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003534226] | Chr10:43116566 [GRCh38] Chr10:43612014 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.844G>T (p.Val282Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531554] | Chr10:43105170 [GRCh38] Chr10:43600618 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1737C>T (p.Asn579=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531646] | Chr10:43112941 [GRCh38] Chr10:43608389 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2940-18G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003850460] | Chr10:43124865 [GRCh38] Chr10:43620313 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3187+17A>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531745] | Chr10:43126739 [GRCh38] Chr10:43622187 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1616G>A (p.Gly539Asp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531831] | Chr10:43112192 [GRCh38] Chr10:43607640 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2136+10C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003533913] | Chr10:43114746 [GRCh38] Chr10:43610194 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.561G>T (p.Gln187His) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003533958] | Chr10:43102565 [GRCh38] Chr10:43598013 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.645C>A (p.Arg215=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003533965] | Chr10:43104971 [GRCh38] Chr10:43600419 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3284T>A (p.Val1095Glu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003533996] | Chr10:43128208 [GRCh38] Chr10:43623656 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2731-6C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003534044] | Chr10:43121940 [GRCh38] Chr10:43617388 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2940-3C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003534091] | Chr10:43124880 [GRCh38] Chr10:43620328 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1061A>G (p.Tyr354Cys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003532451] | Chr10:43106569 [GRCh38] Chr10:43602017 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1565G>A (p.Ser522Asn) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003532462] | Chr10:43112141 [GRCh38] Chr10:43607589 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2043G>T (p.Gln681His) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003532470] | Chr10:43114643 [GRCh38] Chr10:43610091 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2392+18G>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003814772] | Chr10:43118498 [GRCh38] Chr10:43613946 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2007CTC[1] (p.Ser671del) | microsatellite | Multiple endocrine neoplasia, type 2 [RCV003531553] | Chr10:43114607..43114609 [GRCh38] Chr10:43610055..43610057 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1193T>C (p.Leu398Pro) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531555] | Chr10:43109160 [GRCh38] Chr10:43604608 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2385C>A (p.Ser795Arg) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531557] | Chr10:43118473 [GRCh38] Chr10:43613921 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.803C>G (p.Ser268Trp) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531581] | Chr10:43105129 [GRCh38] Chr10:43600577 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.757G>C (p.Val253Leu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003532487] | Chr10:43105083 [GRCh38] Chr10:43600531 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2607+20C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003534297] | Chr10:43119765 [GRCh38] Chr10:43615213 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3169A>T (p.Ile1057Phe) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003852402] | Chr10:43126704 [GRCh38] Chr10:43622152 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2801+19C>A | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531651] | Chr10:43122035 [GRCh38] Chr10:43617483 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.252C>G (p.Asn84Lys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531688] | Chr10:43100637 [GRCh38] Chr10:43596085 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.354G>C (p.Leu118=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531708] | Chr10:43102358 [GRCh38] Chr10:43597806 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.651C>G (p.Ala217=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531713] | Chr10:43104977 [GRCh38] Chr10:43600425 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3187+6A>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003532545] | Chr10:43126728 [GRCh38] Chr10:43622176 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3168G>C (p.Trp1056Cys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531795] | Chr10:43126703 [GRCh38] Chr10:43622151 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.159C>G (p.Val53=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003533877] | Chr10:43100544 [GRCh38] Chr10:43595992 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.919T>C (p.Ser307Pro) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003531896] | Chr10:43106427 [GRCh38] Chr10:43601875 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1294G>T (p.Ala432Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003533990] | Chr10:43111237 [GRCh38] Chr10:43606685 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2040C>T (p.Ala680=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003845241] | Chr10:43114640 [GRCh38] Chr10:43610088 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1923T>C (p.Ala641=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003865189] | Chr10:43114523 [GRCh38] Chr10:43609971 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.840C>T (p.Ser280=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003823588] | Chr10:43105166 [GRCh38] Chr10:43600614 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2699A>C (p.Tyr900Ser) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003862094] | Chr10:43120172 [GRCh38] Chr10:43615620 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1689G>C (p.Lys563Asn) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003869916] | Chr10:43112893 [GRCh38] Chr10:43608341 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1063+19A>G | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003863871] | Chr10:43106590 [GRCh38] Chr10:43602038 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.714G>A (p.Glu238=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003862627] | Chr10:43105040 [GRCh38] Chr10:43600488 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2705A>G (p.Glu902Gly) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003859173] | Chr10:43120178 [GRCh38] Chr10:43615626 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1063+10G>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003864128] | Chr10:43106581 [GRCh38] Chr10:43602029 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2608-16C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003861144] | Chr10:43120065 [GRCh38] Chr10:43615513 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1523A>T (p.Tyr508Phe) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003821871] | Chr10:43112099 [GRCh38] Chr10:43607547 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.3340A>T (p.Ser1114Cys) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003858135] | Chr10:43128264 [GRCh38] Chr10:43623712 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.338-8C>T | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003864370] | Chr10:43102334 [GRCh38] Chr10:43597782 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.559C>G (p.Gln187Glu) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003863384] | Chr10:43102563 [GRCh38] Chr10:43598011 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1105A>G (p.Thr369Ala) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003863403] | Chr10:43109072 [GRCh38] Chr10:43604520 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.2608-6T>C | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003854001] | Chr10:43120075 [GRCh38] Chr10:43615523 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2298G>T (p.Pro766=) | single nucleotide variant | Multiple endocrine neoplasia, type 2 [RCV003859194] | Chr10:43118386 [GRCh38] Chr10:43613834 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.73+9390C>T | single nucleotide variant | RET-related condition [RCV003899030] | Chr10:43086721 [GRCh38] Chr10:43582169 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2284+54C>T | single nucleotide variant | RET-related condition [RCV003914043] | Chr10:43116785 [GRCh38] Chr10:43612233 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2284+26C>T | single nucleotide variant | RET-related condition [RCV003962043] | Chr10:43116757 [GRCh38] Chr10:43612205 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.3187+37G>C | single nucleotide variant | RET-related condition [RCV003909789] | Chr10:43126759 [GRCh38] Chr10:43622207 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.73+9398G>A | single nucleotide variant | RET-related condition [RCV003966758] | Chr10:43086729 [GRCh38] Chr10:43582177 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.73+9408A>G | single nucleotide variant | RET-related condition [RCV003904753] | Chr10:43086739 [GRCh38] Chr10:43582187 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.73+9405G>A | single nucleotide variant | RET-related condition [RCV003952059] | Chr10:43086736 [GRCh38] Chr10:43582184 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1971_1978del (p.His658fs) | deletion | RET-related condition [RCV003982715] | Chr10:43114570..43114577 [GRCh38] Chr10:43610018..43610025 [GRCh37] Chr10:10q11.21 |
likely pathogenic |
NM_020975.6(RET):c.-23C>T | single nucleotide variant | RET-related condition [RCV003969775] | Chr10:43077236 [GRCh38] Chr10:43572684 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.2800G>A (p.Val934Ile) | single nucleotide variant | not provided [RCV003887050] | Chr10:43122015 [GRCh38] Chr10:43617463 [GRCh37] Chr10:10q11.21 |
uncertain significance |
NM_020975.6(RET):c.1522+30G>A | single nucleotide variant | RET-related condition [RCV003949247] | Chr10:43111495 [GRCh38] Chr10:43606943 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1522+42dup | duplication | RET-related condition [RCV003897033] | Chr10:43111502..43111503 [GRCh38] Chr10:43606950..43606951 [GRCh37] Chr10:10q11.21 |
likely benign |
NM_020975.6(RET):c.1522+41G>T | single nucleotide variant | RET-related condition [RCV003897280] | Chr10:43111506 [GRCh38] Chr10:43606954 [GRCh37] Chr10:10q11.21 |
likely benign |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
G59921 |
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GDB:193843 |
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GDB:281473 |
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GDB:342173 |
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GDB:342177 |
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GDB:579598 |
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GDB:580702 |
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GDB:592843 |
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SHGC-105605 |
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STS-T15350 |
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PMC23476P2 |
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RH66458 |
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D10S1566 |
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GDB:574049 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | ||||||||||||||||||
Medium | 46 | 94 | 1 | 15 | 72 | 8 | 158 | 18 | 44 | 42 | 9 | 1 | ||||||
Low | 2082 | 450 | 1146 | 323 | 275 | 206 | 2162 | 1313 | 2575 | 165 | 1196 | 911 | 126 | 1 | 936 | 1116 | 2 | 1 |
Below cutoff | 251 | 2511 | 442 | 267 | 1318 | 224 | 2077 | 861 | 974 | 211 | 183 | 605 | 48 | 259 | 1660 | 1 |
RefSeq Transcripts | NG_007489 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001355216 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001406743 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001406744 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001406759 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001406760 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001406761 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001406762 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001406763 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001406764 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001406765 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001406766 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001406767 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001406768 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001406769 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001406770 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001406771 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001406772 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001406773 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001406774 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001406775 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001406776 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001406777 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001406778 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001406779 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001406780 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001406781 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001406782 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001406783 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001406784 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001406785 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001406786 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001406787 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001406788 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001406789 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001406790 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001406791 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001406792 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001406793 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001406794 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_020630 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_020975 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC010864 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF032124 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF520975 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF520979 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF520983 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AH006616 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AI472270 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ243297 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ844649 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK291807 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK294827 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AW297789 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY615726 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC003072 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC004257 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BE261914 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BM661773 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BM703293 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BQ070075 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BX332519 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BX376396 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471160 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068268 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CS542500 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA100452 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA235889 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA911581 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DC351179 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
H24956 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JF273638 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JF276429 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JF742661 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KC507554 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF421948 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KT584823 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KU954552 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
S80097 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
S80552 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
S82976 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
S83049 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X15262 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
Y12528 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
Y15743 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000340058 ⟹ ENSP00000344798 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000355710 ⟹ ENSP00000347942 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000479913 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000498820 ⟹ ENSP00000419080 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000615310 ⟹ ENSP00000480088 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000638465 ⟹ ENSP00000491505 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000640619 ⟹ ENSP00000492728 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000671844 ⟹ ENSP00000500541 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000672389 ⟹ ENSP00000500252 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000683007 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000683278 ⟹ ENSP00000507117 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000683872 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000684216 ⟹ ENSP00000508223 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001355216 ⟹ NP_001342145 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001406743 ⟹ NP_001393672 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001406744 ⟹ NP_001393673 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001406759 ⟹ NP_001393688 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001406760 ⟹ NP_001393689 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001406761 ⟹ NP_001393690 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001406762 ⟹ NP_001393691 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001406763 ⟹ NP_001393692 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001406764 ⟹ NP_001393693 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001406765 ⟹ NP_001393694 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001406766 ⟹ NP_001393695 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001406767 ⟹ NP_001393696 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001406768 ⟹ NP_001393697 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001406769 ⟹ NP_001393698 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001406770 ⟹ NP_001393699 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001406771 ⟹ NP_001393700 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001406772 ⟹ NP_001393701 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001406773 ⟹ NP_001393702 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001406774 ⟹ NP_001393703 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001406775 ⟹ NP_001393704 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001406776 ⟹ NP_001393705 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001406777 ⟹ NP_001393706 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001406778 ⟹ NP_001393707 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001406779 ⟹ NP_001393708 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001406780 ⟹ NP_001393709 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001406781 ⟹ NP_001393710 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001406782 ⟹ NP_001393711 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001406783 ⟹ NP_001393712 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001406784 ⟹ NP_001393713 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001406785 ⟹ NP_001393714 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001406786 ⟹ NP_001393715 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001406787 ⟹ NP_001393716 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001406788 ⟹ NP_001393717 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001406789 ⟹ NP_001393718 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001406790 ⟹ NP_001393719 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001406791 ⟹ NP_001393720 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001406792 ⟹ NP_001393721 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001406793 ⟹ NP_001393722 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001406794 ⟹ NP_001393723 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_020630 ⟹ NP_065681 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_020975 ⟹ NP_066124 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
Protein RefSeqs | NP_001342145 | (Get FASTA) | NCBI Sequence Viewer |
NP_001393672 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001393673 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001393688 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001393689 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001393690 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001393691 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001393692 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001393693 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001393694 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001393695 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001393696 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001393697 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001393698 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001393699 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001393700 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001393701 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001393702 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001393703 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001393704 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001393705 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001393706 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001393707 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001393708 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001393709 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001393710 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001393711 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001393712 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001393713 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001393714 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001393715 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001393716 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001393717 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001393718 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001393719 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001393720 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001393721 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001393722 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001393723 | (Get FASTA) | NCBI Sequence Viewer | |
NP_065681 | (Get FASTA) | NCBI Sequence Viewer | |
NP_066124 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAB47046 | (Get FASTA) | NCBI Sequence Viewer |
AAB47047 | (Get FASTA) | NCBI Sequence Viewer | |
AAB50647 | (Get FASTA) | NCBI Sequence Viewer | |
AAB97168 | (Get FASTA) | NCBI Sequence Viewer | |
AAD14422 | (Get FASTA) | NCBI Sequence Viewer | |
AAD14423 | (Get FASTA) | NCBI Sequence Viewer | |
AAH03072 | (Get FASTA) | NCBI Sequence Viewer | |
AAH04257 | (Get FASTA) | NCBI Sequence Viewer | |
AAM77275 | (Get FASTA) | NCBI Sequence Viewer | |
AAM77279 | (Get FASTA) | NCBI Sequence Viewer | |
AAM77283 | (Get FASTA) | NCBI Sequence Viewer | |
AEA76514 | (Get FASTA) | NCBI Sequence Viewer | |
AEH95840 | (Get FASTA) | NCBI Sequence Viewer | |
AEH95841 | (Get FASTA) | NCBI Sequence Viewer | |
AGK27784 | (Get FASTA) | NCBI Sequence Viewer | |
AGT37291 | (Get FASTA) | NCBI Sequence Viewer | |
BAF84496 | (Get FASTA) | NCBI Sequence Viewer | |
BAG57939 | (Get FASTA) | NCBI Sequence Viewer | |
CAA33333 | (Get FASTA) | NCBI Sequence Viewer | |
CAA73131 | (Get FASTA) | NCBI Sequence Viewer | |
CAA75753 | (Get FASTA) | NCBI Sequence Viewer | |
CAB46483 | (Get FASTA) | NCBI Sequence Viewer | |
CAM91187 | (Get FASTA) | NCBI Sequence Viewer | |
EAW86576 | (Get FASTA) | NCBI Sequence Viewer | |
EAW86577 | (Get FASTA) | NCBI Sequence Viewer | |
EAW86578 | (Get FASTA) | NCBI Sequence Viewer | |
EAW86579 | (Get FASTA) | NCBI Sequence Viewer | |
EAW86580 | (Get FASTA) | NCBI Sequence Viewer | |
EAW86581 | (Get FASTA) | NCBI Sequence Viewer | |
EAW86582 | (Get FASTA) | NCBI Sequence Viewer | |
EAW86583 | (Get FASTA) | NCBI Sequence Viewer | |
EAW86584 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000344798 | ||
ENSP00000344798.4 | |||
ENSP00000347942 | |||
ENSP00000347942.3 | |||
ENSP00000419080.1 | |||
ENSP00000480088 | |||
ENSP00000480088.2 | |||
ENSP00000491505.1 | |||
ENSP00000492728.1 | |||
ENSP00000500252.1 | |||
ENSP00000500541.1 | |||
ENSP00000507117.1 | |||
ENSP00000508223.1 | |||
GenBank Protein | P07949 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_066124 ⟸ NM_020975 |
- Peptide Label: | isoform a precursor |
- UniProtKB: | Q9BTB0 (UniProtKB/Swiss-Prot), A8K6Z2 (UniProtKB/Swiss-Prot), P07949 (UniProtKB/Swiss-Prot), F8TLW0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_065681 ⟸ NM_020630 |
- Peptide Label: | isoform c precursor |
- UniProtKB: | F8TLW0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001342145 ⟸ NM_001355216 |
- Peptide Label: | isoform d |
- UniProtKB: | B4DGX8 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000491505 ⟸ ENST00000638465 |
RefSeq Acc Id: | ENSP00000480088 ⟸ ENST00000615310 |
RefSeq Acc Id: | ENSP00000492728 ⟸ ENST00000640619 |
RefSeq Acc Id: | ENSP00000419080 ⟸ ENST00000498820 |
RefSeq Acc Id: | ENSP00000344798 ⟸ ENST00000340058 |
RefSeq Acc Id: | ENSP00000347942 ⟸ ENST00000355710 |
RefSeq Acc Id: | ENSP00000500541 ⟸ ENST00000671844 |
RefSeq Acc Id: | ENSP00000500252 ⟸ ENST00000672389 |
RefSeq Acc Id: | ENSP00000507117 ⟸ ENST00000683278 |
RefSeq Acc Id: | ENSP00000508223 ⟸ ENST00000684216 |
RefSeq Acc Id: | NP_001393672 ⟸ NM_001406743 |
- Peptide Label: | isoform a precursor |
- UniProtKB: | Q9BTB0 (UniProtKB/Swiss-Prot), P07949 (UniProtKB/Swiss-Prot), A8K6Z2 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | NP_001393673 ⟸ NM_001406744 |
- Peptide Label: | isoform b precursor |
RefSeq Acc Id: | NP_001393688 ⟸ NM_001406759 |
- Peptide Label: | isoform e precursor |
RefSeq Acc Id: | NP_001393689 ⟸ NM_001406760 |
- Peptide Label: | isoform e precursor |
RefSeq Acc Id: | NP_001393694 ⟸ NM_001406765 |
- Peptide Label: | isoform i precursor |
RefSeq Acc Id: | NP_001393692 ⟸ NM_001406763 |
- Peptide Label: | isoform g precursor |
RefSeq Acc Id: | NP_001393701 ⟸ NM_001406772 |
- Peptide Label: | isoform o precursor |
- UniProtKB: | A0A087WWB1 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001393698 ⟸ NM_001406769 |
- Peptide Label: | isoform l precursor |
RefSeq Acc Id: | NP_001393702 ⟸ NM_001406773 |
- Peptide Label: | isoform p precursor |
RefSeq Acc Id: | NP_001393700 ⟸ NM_001406771 |
- Peptide Label: | isoform n precursor |
RefSeq Acc Id: | NP_001393711 ⟸ NM_001406782 |
- Peptide Label: | isoform x precursor |
RefSeq Acc Id: | NP_001393709 ⟸ NM_001406780 |
- Peptide Label: | isoform v precursor |
RefSeq Acc Id: | NP_001393708 ⟸ NM_001406779 |
- Peptide Label: | isoform v precursor |
RefSeq Acc Id: | NP_001393710 ⟸ NM_001406781 |
- Peptide Label: | isoform w precursor |
RefSeq Acc Id: | NP_001393716 ⟸ NM_001406787 |
- Peptide Label: | isoform cc precursor |
RefSeq Acc Id: | NP_001393714 ⟸ NM_001406785 |
- Peptide Label: | isoform aa precursor |
RefSeq Acc Id: | NP_001393693 ⟸ NM_001406764 |
- Peptide Label: | isoform h precursor |
RefSeq Acc Id: | NP_001393691 ⟸ NM_001406762 |
- Peptide Label: | isoform f precursor |
RefSeq Acc Id: | NP_001393690 ⟸ NM_001406761 |
- Peptide Label: | isoform f precursor |
RefSeq Acc Id: | NP_001393697 ⟸ NM_001406768 |
- Peptide Label: | isoform k precursor |
RefSeq Acc Id: | NP_001393703 ⟸ NM_001406774 |
- Peptide Label: | isoform q precursor |
RefSeq Acc Id: | NP_001393715 ⟸ NM_001406786 |
- Peptide Label: | isoform bb precursor |
RefSeq Acc Id: | NP_001393712 ⟸ NM_001406783 |
- Peptide Label: | isoform y precursor |
RefSeq Acc Id: | NP_001393699 ⟸ NM_001406770 |
- Peptide Label: | isoform m precursor |
RefSeq Acc Id: | NP_001393695 ⟸ NM_001406766 |
- Peptide Label: | isoform j precursor |
RefSeq Acc Id: | NP_001393696 ⟸ NM_001406767 |
- Peptide Label: | isoform j precursor |
RefSeq Acc Id: | NP_001393707 ⟸ NM_001406778 |
- Peptide Label: | isoform u precursor |
RefSeq Acc Id: | NP_001393704 ⟸ NM_001406775 |
- Peptide Label: | isoform r precursor |
RefSeq Acc Id: | NP_001393705 ⟸ NM_001406776 |
- Peptide Label: | isoform s precursor |
RefSeq Acc Id: | NP_001393706 ⟸ NM_001406777 |
- Peptide Label: | isoform t precursor |
RefSeq Acc Id: | NP_001393719 ⟸ NM_001406790 |
- Peptide Label: | isoform ff precursor |
RefSeq Acc Id: | NP_001393717 ⟸ NM_001406788 |
- Peptide Label: | isoform dd precursor |
RefSeq Acc Id: | NP_001393718 ⟸ NM_001406789 |
- Peptide Label: | isoform dd precursor |
RefSeq Acc Id: | NP_001393720 ⟸ NM_001406791 |
- Peptide Label: | isoform gg precursor |
RefSeq Acc Id: | NP_001393713 ⟸ NM_001406784 |
- Peptide Label: | isoform z precursor |
RefSeq Acc Id: | NP_001393723 ⟸ NM_001406794 |
- Peptide Label: | isoform jj precursor |
RefSeq Acc Id: | NP_001393721 ⟸ NM_001406792 |
- Peptide Label: | isoform hh precursor |
RefSeq Acc Id: | NP_001393722 ⟸ NM_001406793 |
- Peptide Label: | isoform ii precursor |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P07949-F1-model_v2 | AlphaFold | P07949 | 1-1114 | view protein structure |
RGD ID: | 6788046 | ||||||||
Promoter ID: | HG_KWN:9235 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | NB4 | ||||||||
Transcripts: | ENST00000355710, NM_020630, NM_020975 | ||||||||
Position: |
|
RGD ID: | 6814928 | ||||||||
Promoter ID: | HG_MRA:1850 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | NB4 | ||||||||
Transcripts: | AK294827 | ||||||||
Position: |
|
RGD ID: | 7217385 | ||||||||
Promoter ID: | EPDNEW_H14438 | ||||||||
Type: | initiation region | ||||||||
Name: | RET_1 | ||||||||
Description: | ret proto-oncogene | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:9967 | AgrOrtholog |
COSMIC | RET | COSMIC |
Ensembl Genes | ENSG00000165731 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000340058 | ENTREZGENE |
ENST00000340058.6 | UniProtKB/Swiss-Prot | |
ENST00000355710 | ENTREZGENE | |
ENST00000355710.8 | UniProtKB/Swiss-Prot | |
ENST00000498820.5 | UniProtKB/TrEMBL | |
ENST00000615310 | ENTREZGENE | |
ENST00000615310.5 | UniProtKB/TrEMBL | |
ENST00000638465.1 | UniProtKB/TrEMBL | |
ENST00000640619.1 | UniProtKB/TrEMBL | |
ENST00000671844.1 | UniProtKB/TrEMBL | |
ENST00000672389.1 | UniProtKB/TrEMBL | |
ENST00000683007 | ENTREZGENE | |
ENST00000683278.1 | UniProtKB/TrEMBL | |
ENST00000684216.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | Cadherins | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Transferase(Phosphotransferase) domain 1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GTEx | ENSG00000165731 | GTEx |
HGNC ID | HGNC:9967 | ENTREZGENE |
Human Proteome Map | RET | Human Proteome Map |
InterPro | Cadherin-like_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Cadherin-like_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Kinase-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Prot_kinase_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Protein_kinase_ATP_BS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ret_CLD1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ret_CLD3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RET_CLD4 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ser-Thr/Tyr_kinase_cat_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Tyr_kinase_AS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Tyr_kinase_cat_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Tyr_kinase_Ret_rcpt | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:5979 | UniProtKB/Swiss-Prot |
NCBI Gene | 5979 | ENTREZGENE |
OMIM | 164761 | OMIM |
PANTHER | PROTO-ONCOGENE TYROSINE-PROTEIN KINASE RECEPTOR RET | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
TYROSINE-PROTEIN KINASE RECEPTOR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Cadherin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Pkinase_Tyr | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RET_CLD1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RET_CLD3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RET_CLD4 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA34335 | PharmGKB |
PIRSF | TyrPK_receptor_Ret | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PRINTS | TYRKINASE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROSITE | CADHERIN_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROTEIN_KINASE_ATP | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PROTEIN_KINASE_DOM | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PROTEIN_KINASE_TYR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | TyrKc | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF49313 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF56112 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A087WWB1 | ENTREZGENE, UniProtKB/TrEMBL |
A0A1W2PPN7_HUMAN | UniProtKB/TrEMBL | |
A0A1W2PSA1_HUMAN | UniProtKB/TrEMBL | |
A0A5F9ZHB7_HUMAN | UniProtKB/TrEMBL | |
A0A5F9ZHR6_HUMAN | UniProtKB/TrEMBL | |
A0A804HIK7_HUMAN | UniProtKB/TrEMBL | |
A0A804HL71_HUMAN | UniProtKB/TrEMBL | |
A8K6Z2 | ENTREZGENE | |
B4DGX8 | ENTREZGENE, UniProtKB/TrEMBL | |
C9JYL6_HUMAN | UniProtKB/TrEMBL | |
F8TLS5_HUMAN | UniProtKB/TrEMBL | |
F8TLW0 | ENTREZGENE, UniProtKB/TrEMBL | |
L8EA94_HUMAN | UniProtKB/TrEMBL | |
M9Z0T2_HUMAN | UniProtKB/TrEMBL | |
O43519_HUMAN | UniProtKB/TrEMBL | |
P07949 | ENTREZGENE | |
Q8IZR8_HUMAN | UniProtKB/TrEMBL | |
Q8NFE8_HUMAN | UniProtKB/TrEMBL | |
Q99886_HUMAN | UniProtKB/TrEMBL | |
Q9BTB0 | ENTREZGENE | |
Q9BTX6_HUMAN | UniProtKB/TrEMBL | |
Q9UM90_HUMAN | UniProtKB/TrEMBL | |
Q9UMQ4_HUMAN | UniProtKB/TrEMBL | |
Q9UQV8_HUMAN | UniProtKB/TrEMBL | |
RET_HUMAN | UniProtKB/Swiss-Prot | |
UniProt Secondary | A8K6Z2 | UniProtKB/Swiss-Prot |
Q15250 | UniProtKB/Swiss-Prot | |
Q9BTB0 | UniProtKB/Swiss-Prot | |
Q9H4A2 | UniProtKB/Swiss-Prot |