Sugi Variant

Sugi Variant/DICER1

DICER1 — 7038 ClinVar variants

All ClinVar germline DICER1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 3594 flagged for review →

555 Pathogenic · 65 Pathogenic/Likely pathogenic · 140 Likely pathogenic · 292 Conflicting · 115 Benign · 78 Benign/Likely benign · 2050 Likely benign · 3743 Uncertain significance

Full DICER1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 3594

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 139

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predicted LoF vs a conflicting call 2

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 2199

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 2199

Predictors split 1253

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 1253

All DICER1 variants

Pathogenic 555

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1907+1G>A Expert panel DICER1-related tumor predisposition
  • c.2650+1G>T Expert panel DICER1-related tumor predisposition
  • c.2988-1G>T Expert panel DICER1-related tumor predisposition
  • c.5096-12G>A Expert panel DICER1-related tumor predisposition
  • p.Arg293fs Expert panel DICER1-related tumor predisposition
  • p.Asp1709Asn Expert panel DICER1-related tumor predisposition
  • p.Gln1007Ter Expert panel DICER1-related tumor predisposition
  • p.Gln1702Ter Expert panel DICER1-related tumor predisposition
  • p.Glu1705Lys Expert panel DICER1-related tumor predisposition
  • p.Glu470Ter Expert panel DICER1-related tumor predisposition
  • p.Gly1809Arg Expert panel DICER1-related tumor predisposition
  • p.Ile627fs Expert panel DICER1-related tumor predisposition
  • p.Leu1827fs Expert panel DICER1-related tumor predisposition
  • p.Met842fs Expert panel DICER1-related tumor predisposition
  • p.Ser1814Leu Expert panel DICER1-related tumor predisposition
  • c.1376+1G>T Multiple submitters DICER1-related tumor predisposition
  • c.1752+1del Multiple submitters DICER1-related tumor predisposition
  • c.1907+1del Multiple submitters DICER1-related tumor predisposition
  • c.2040+1G>A Multiple submitters DICER1-related tumor predisposition
  • c.2040+1G>C Multiple submitters DICER1-related tumor predisposition
  • c.2040+1G>T Multiple submitters DICER1-related tumor predisposition
  • c.2437-1G>A Multiple submitters DICER1-related tumor predisposition
  • c.2437-2A>G Multiple submitters DICER1-related tumor predisposition
  • c.2651-2A>G Multiple submitters hereditary neoplastic syndrome
  • c.5095+1G>C Multiple submitters DICER1-related tumor predisposition
  • c.5096-498_5364+356del Multiple submitters DICER1-related tumor predisposition
  • c.5365-1G>A Multiple submitters DICER1-related tumor predisposition
  • p.Ala1116fs Multiple submitters DICER1-related tumor predisposition
  • p.Ala180fs Multiple submitters DICER1-related tumor predisposition
  • p.Ala1816fs Multiple submitters goiter, multinodular 1, with or without Sertoli-Leydig cell tumors
  • p.Arg1003Ter Multiple submitters pleuropulmonary blastoma
  • p.Arg187Ter Multiple submitters DICER1-related tumor predisposition
  • p.Arg342fs Multiple submitters DICER1-related tumor predisposition
  • p.Arg509Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg544Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg624Ter Multiple submitters DICER1-related tumor predisposition
  • p.Arg656Ter Multiple submitters global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
  • p.Arg676Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg688Ter Multiple submitters global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
  • p.Arg800fs Multiple submitters DICER1-related tumor predisposition
  • p.Arg944Ter Multiple submitters DICER1-related tumor predisposition
  • p.Asp1195fs Multiple submitters hereditary neoplastic syndrome
  • p.Asp1253fs Multiple submitters hereditary neoplastic syndrome
  • p.Asp1437fs Multiple submitters hereditary neoplastic syndrome
  • p.Asp1476fs Multiple submitters DICER1-related tumor predisposition
  • p.Asp1654fs Multiple submitters DICER1-related tumor predisposition
  • p.Asp1810fs Multiple submitters rhabdomyosarcoma, embryonal, 2
  • p.Asp244fs Multiple submitters DICER1-related tumor predisposition
  • p.Cys1197fs Multiple submitters DICER1-related tumor predisposition
  • p.Cys1535fs Multiple submitters vertebral anomalies and variable endocrine and T-cell dysfunction
  • p.Cys1604Ter Multiple submitters DICER1-related tumor predisposition
  • p.Cys443fs Multiple submitters hereditary neoplastic syndrome
  • p.Cys748Ter Multiple submitters DICER1-related tumor predisposition
  • p.Gln1028Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln1031Ter Multiple submitters DICER1-related tumor predisposition
  • p.Gln108Ter Multiple submitters DICER1-related tumor predisposition
  • p.Gln109Ter Multiple submitters DICER1-related tumor predisposition
  • p.Gln1135fs Multiple submitters hereditary neoplastic syndrome
  • p.Gln1135Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln1201Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln1220Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln1230Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln1542fs Multiple submitters DICER1-related tumor predisposition
  • p.Gln1685Ter Multiple submitters rhabdomyosarcoma, embryonal, 2
  • p.Gln1774Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln301Ter Multiple submitters DICER1-related tumor predisposition
  • p.Gln330Ter Multiple submitters DICER1-related tumor predisposition
  • p.Gln34Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln393Ter Multiple submitters DICER1-related tumor predisposition
  • p.Gln501Ter Multiple submitters DICER1-related tumor predisposition
  • p.Glu1025Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu1226Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu136fs Multiple submitters DICER1-related tumor predisposition
  • p.Glu1519fs Multiple submitters DICER1-related tumor predisposition
  • p.Glu1564fs Multiple submitters DICER1-related tumor predisposition
  • p.Glu1667Ter Multiple submitters DICER1-related tumor predisposition
  • p.Glu1799fs Multiple submitters global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
  • p.Glu382Ter Multiple submitters DICER1-related tumor predisposition
  • p.Glu396fs Multiple submitters DICER1-related tumor predisposition
  • p.Glu416Ter Multiple submitters DICER1-related tumor predisposition
  • p.Glu503Ter Multiple submitters DICER1-related tumor predisposition
  • p.Glu784Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu917Ter Multiple submitters DICER1-related tumor predisposition
  • p.Glu925Ter Multiple submitters pleuropulmonary blastoma
  • p.Gly1640_Cys1641insTer Multiple submitters DICER1-related tumor predisposition
  • p.His1767fs Multiple submitters DICER1-related tumor predisposition
  • p.Ile1663fs Multiple submitters DICER1-related tumor predisposition
  • p.Ile461fs Multiple submitters DICER1-related tumor predisposition
  • p.Leu1172fs Multiple submitters DICER1-related tumor predisposition
  • p.Leu1298fs Multiple submitters DICER1-related tumor predisposition
  • p.Leu1732fs Multiple submitters DICER1-related tumor predisposition
  • p.Leu210Ter Multiple submitters DICER1-related tumor predisposition
  • p.Leu352fs Multiple submitters DICER1-related tumor predisposition
  • p.Leu840fs Multiple submitters goiter, multinodular 1, with or without Sertoli-Leydig cell tumors
  • p.Lys1100fs Multiple submitters hereditary neoplastic syndrome
  • p.Lys1363fs Multiple submitters DICER1-related tumor predisposition
  • p.Lys1541Ter Multiple submitters DICER1-related tumor predisposition
  • p.Lys1751fs Multiple submitters DICER1-related tumor predisposition
  • p.Lys231Ter Multiple submitters hereditary neoplastic syndrome
  • p.Lys429fs Multiple submitters DICER1-related tumor predisposition
  • p.Lys500Ter Multiple submitters DICER1-related tumor predisposition
  • p.Met562fs Multiple submitters DICER1-related tumor predisposition
  • p.Phe1772fs Multiple submitters DICER1-related tumor predisposition
  • p.Phe572fs Multiple submitters DICER1-related tumor predisposition
  • p.Phe836fs Multiple submitters DICER1-related tumor predisposition
  • p.Phe920fs Multiple submitters DICER1-related tumor predisposition
  • p.Pro1092_Asn1093insTer Multiple submitters DICER1-related tumor predisposition
  • p.Pro1161fs Multiple submitters DICER1-related tumor predisposition
  • p.Pro1292fs Multiple submitters DICER1-related tumor predisposition
  • p.Pro1336fs Multiple submitters DICER1-related tumor predisposition
  • p.Pro1377fs Multiple submitters hereditary neoplastic syndrome
  • p.Pro750fs Multiple submitters DICER1-related tumor predisposition
  • p.Pro956fs Multiple submitters DICER1-related tumor predisposition
  • p.Pro963fs Multiple submitters DICER1-related tumor predisposition
  • p.Ser1046fs Multiple submitters DICER1-related tumor predisposition
  • p.Ser1101fs Multiple submitters DICER1-related tumor predisposition
  • p.Ser1179fs Multiple submitters DICER1-related tumor predisposition
  • p.Ser1216Ter Multiple submitters DICER1-related tumor predisposition
  • p.Ser1307fs Multiple submitters DICER1-related tumor predisposition
  • p.Ser1468fs Multiple submitters DICER1-related tumor predisposition
  • p.Ser1470fs Multiple submitters rhabdomyosarcoma, embryonal, 2
  • p.Ser1504fs Multiple submitters DICER1-related tumor predisposition
  • p.Ser1585Ter Multiple submitters global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
  • p.Ser1762_Pro1763insTer Multiple submitters DICER1-related tumor predisposition
  • p.Thr115fs Multiple submitters hereditary neoplastic syndrome
  • p.Thr206fs Multiple submitters hereditary neoplastic syndrome
  • p.Thr566fs Multiple submitters DICER1-related tumor predisposition
  • p.Thr596fs Multiple submitters hereditary neoplastic syndrome
  • p.Thr719_Val720insTer Multiple submitters DICER1-related tumor predisposition
  • p.Thr719fs Multiple submitters DICER1-related tumor predisposition
  • p.Thr798fs Multiple submitters DICER1-related tumor predisposition
  • p.Thr955fs Multiple submitters DICER1-related tumor predisposition
  • p.Trp1397Ter Multiple submitters DICER1-related tumor predisposition
  • p.Trp1506Ter Multiple submitters DICER1-related tumor predisposition
  • p.Trp316Ter Multiple submitters DICER1-related tumor predisposition
  • p.Trp32Ter Multiple submitters DICER1-related tumor predisposition
  • p.Trp400fs Multiple submitters DICER1-related tumor predisposition
  • p.Trp400Ter Multiple submitters DICER1-related tumor predisposition
  • p.Trp412fs Multiple submitters hereditary neoplastic syndrome
  • p.Tyr1059fs Multiple submitters DICER1-related tumor predisposition
  • p.Tyr1091Ter Multiple submitters DICER1-related tumor predisposition
  • p.Tyr1180fs Multiple submitters DICER1-related tumor predisposition
  • p.Tyr1180Ter Multiple submitters DICER1-related tumor predisposition
  • p.Tyr1223_Ser1224delinsTer Multiple submitters hereditary neoplastic syndrome
  • p.Tyr1242Ter Multiple submitters DICER1-related tumor predisposition
  • p.Tyr1335Ter Multiple submitters DICER1-related tumor predisposition
  • p.Tyr1345_Arg1347delinsTer Multiple submitters DICER1-related tumor predisposition
  • p.Tyr1692Ter Multiple submitters hereditary neoplastic syndrome
  • p.Tyr1835fs Multiple submitters DICER1-related tumor predisposition
  • p.Tyr332Ter Multiple submitters hereditary neoplastic syndrome
  • p.Tyr401Ter Multiple submitters DICER1-related tumor predisposition
  • p.Tyr614fs Multiple submitters hereditary neoplastic syndrome
  • p.Tyr637Ter Multiple submitters DICER1-related tumor predisposition
  • p.Tyr749Ter Multiple submitters DICER1-related tumor predisposition
  • p.Tyr769Ter Multiple submitters DICER1-related tumor predisposition
  • p.Tyr946Ter Multiple submitters hereditary neoplastic syndrome
  • p.Val1211fs Multiple submitters hereditary neoplastic syndrome
  • p.Val1260fs Multiple submitters DICER1-related tumor predisposition
  • p.Val154fs Multiple submitters DICER1-related tumor predisposition
  • p.Val610fs Multiple submitters DICER1-related tumor predisposition
  • p.Val97fs Multiple submitters hereditary neoplastic syndrome
  • p.Val990fs Multiple submitters DICER1-related tumor predisposition
  • c.1509+1G>A Single submitter hereditary neoplastic syndrome
  • c.1867_2257-215del Single submitter DICER1-related tumor predisposition
  • c.2117-1G>A Single submitter DICER1-related tumor predisposition
  • c.2256+1G>A Single submitter hereditary neoplastic syndrome
  • c.2256+1G>C Single submitter DICER1-related tumor predisposition
  • c.2436+1G>A Single submitter DICER1-related tumor predisposition
  • c.2805-1G>T Single submitter DICER1-related tumor predisposition
  • c.2988-2_2988-1inv Single submitter DICER1-related tumor predisposition
  • c.2988-20_2988del Single submitter DICER1-related tumor predisposition
  • c.3270-12A>G Single submitter DICER1-related tumor predisposition
  • c.3270-6_4051-1280delinsG Single submitter DICER1-related tumor predisposition
  • c.4050+1del Single submitter DICER1-related tumor predisposition
  • c.4050+2T>C Single submitter DICER1-related tumor predisposition
  • c.4050+2T>G Single submitter DICER1-related tumor predisposition
  • c.4207-41_5364+1034del Single submitter DICER1-related tumor predisposition
  • c.5261_5364+79del Single submitter DICER1-related tumor predisposition
  • c.5365-1G>T Single submitter DICER1-related tumor predisposition
  • c.5527+1del Single submitter DICER1-related tumor predisposition
  • c.(734+1_735-1 Single submitter hereditary neoplastic syndrome
  • c.734+2T>C Single submitter DICER1-related tumor predisposition
  • c.904-1G>A Single submitter DICER1-related tumor predisposition
  • p.Ala1051fs Single submitter
  • p.Ala1137fs Single submitter DICER1-related tumor predisposition
  • p.Ala1560fs Single submitter DICER1-related tumor predisposition
  • p.Ala1818fs Single submitter DICER1-related tumor predisposition
  • p.Arg1060fs Single submitter DICER1-related tumor predisposition
  • p.Arg1071fs Single submitter DICER1-related tumor predisposition
  • p.Arg1090Ter Single submitter hereditary neoplastic syndrome
  • p.Arg114fs Single submitter DICER1-related tumor predisposition
  • p.Arg1358fs Single submitter DICER1-related tumor predisposition
  • p.Arg137fs Single submitter DICER1-related tumor predisposition
  • p.Arg1596delinsSerAsnTer Single submitter DICER1-related tumor predisposition
  • p.Arg1596fs Single submitter DICER1-related tumor predisposition
  • p.Arg1599fs Single submitter hereditary neoplastic syndrome
  • p.Arg1676Ter Single submitter DICER1-related tumor predisposition
  • p.Arg263fs Single submitter hereditary neoplastic syndrome
  • p.Arg263Ter Single submitter DICER1-related tumor predisposition
  • p.Arg307fs Single submitter DICER1-related tumor predisposition
  • p.Arg392delinsProIleTer Single submitter DICER1-related tumor predisposition
  • p.Arg536fs Single submitter DICER1-related tumor predisposition
  • p.Arg758fs Single submitter hereditary neoplastic syndrome
  • p.Arg821_Ser822del Single submitter DICER1-related tumor predisposition
  • p.Arg944fs Single submitter DICER1-related tumor predisposition
  • p.Arg95fs Single submitter DICER1-related tumor predisposition
  • p.Asn1029fs Single submitter
  • p.Asn1093_Leu1094insTer Single submitter DICER1-related tumor predisposition
  • p.Asn1120_Tyr1121insGlnAsnTer Single submitter hereditary neoplastic syndrome
  • p.Asn1145fs Single submitter DICER1-related tumor predisposition
  • p.Asn1193fs Single submitter hereditary neoplastic syndrome
  • p.Asn1193Ter Single submitter DICER1-related tumor predisposition
  • p.Asn1200fs Single submitter DICER1-related tumor predisposition
  • p.Asn1240fs Single submitter DICER1-related tumor predisposition
  • p.Asn1742fs Single submitter DICER1-related tumor predisposition
  • p.Asn195fs Single submitter DICER1-related tumor predisposition
  • p.Asn458fs Single submitter DICER1-related tumor predisposition
  • p.Asp1095fs Single submitter DICER1-related tumor predisposition
  • p.Asp1103fs Single submitter DICER1-related tumor predisposition
  • p.Asp1190fs Single submitter DICER1-related tumor predisposition
  • p.Asp1400fs Single submitter DICER1-related tumor predisposition
  • p.Asp1405fs Single submitter DICER1-related tumor predisposition
  • p.Asp1497_Phe1498insTer Single submitter hereditary neoplastic syndrome
  • p.Asp1709Cys Single submitter DICER1-related tumor predisposition
  • p.Asp1709Glu Single submitter DICER1-related tumor predisposition
  • p.Asp1709His Single submitter DICER1-related tumor predisposition
  • p.Asp1709Tyr Single submitter DICER1-related tumor predisposition
  • p.Asp1709Val Single submitter DICER1-related tumor predisposition
  • p.Asp1713Ala Single submitter DICER1-related tumor predisposition
  • p.Asp1713Asn Single submitter DICER1-related tumor predisposition
  • p.Asp1810Asn Single submitter DICER1-related tumor predisposition
  • p.Asp1810Gly Single submitter DICER1-related tumor predisposition
  • p.Asp1810Tyr Single submitter DICER1-related tumor predisposition
  • p.Asp1810Val Single submitter DICER1-related tumor predisposition
  • p.Asp183fs Single submitter DICER1-related tumor predisposition
  • p.Asp239fs Single submitter DICER1-related tumor predisposition
  • p.Asp283_Cys284insTer Single submitter DICER1-related tumor predisposition
  • p.Asp305fs Single submitter DICER1-related tumor predisposition
  • p.Asp565fs Single submitter DICER1-related tumor predisposition
  • p.Asp575fs Single submitter
  • p.Asp595fs Single submitter hereditary neoplastic syndrome
  • p.Asp600Ter Single submitter hereditary neoplastic syndrome
  • p.Asp602fs Single submitter DICER1-related tumor predisposition
  • p.Asp608fs Single submitter hereditary neoplastic syndrome
  • p.Asp709fs Single submitter DICER1-related tumor predisposition
  • p.Asp730delinsPheAlaTer Single submitter hereditary neoplastic syndrome
  • p.Asp730Ter Single submitter DICER1-related tumor predisposition
  • p.Asp940Ter Single submitter DICER1-related tumor predisposition
  • p.Cys1053fs Single submitter DICER1-related tumor predisposition
  • p.Cys1197Ter Single submitter DICER1-related tumor predisposition
  • p.Cys1333Ter Single submitter DICER1-related tumor predisposition
  • p.Cys1553fs Single submitter hereditary neoplastic syndrome
  • p.Cys1562fs Single submitter DICER1-related tumor predisposition
  • p.Cys1604fs Single submitter DICER1-related tumor predisposition
  • p.Cys1648fs Single submitter DICER1-related tumor predisposition
  • p.Cys196Ter Single submitter hereditary neoplastic syndrome
  • p.Cys199fs Single submitter DICER1-related tumor predisposition
  • p.Cys199Ter Single submitter DICER1-related tumor predisposition
  • p.Cys214_Asp215delinsTer Single submitter hereditary neoplastic syndrome
  • p.Cys284_Asn285delinsTer Single submitter DICER1-related tumor predisposition
  • p.Cys306fs Single submitter DICER1-related tumor predisposition
  • p.Cys531Ter Single submitter DICER1-related tumor predisposition
  • p.Cys768fs Single submitter hereditary neoplastic syndrome
  • p.Cys768Ter Single submitter hereditary neoplastic syndrome
  • p.Gln1028fs Single submitter DICER1-related tumor predisposition
  • p.Gln1212Ter Single submitter DICER1-related tumor predisposition
  • p.Gln1447Ter Single submitter DICER1-related tumor predisposition
  • p.Gln1580Ter Single submitter DICER1-related tumor predisposition
  • p.Gln1613Ter Single submitter DICER1-related tumor predisposition
  • p.Gln1726Ter Single submitter DICER1-related tumor predisposition
  • p.Gln1776Ter Single submitter rhabdomyosarcoma, embryonal, 2
  • p.Gln1783Ter Single submitter DICER1-related tumor predisposition
  • p.Gln1832Ter Single submitter DICER1-related tumor predisposition
  • p.Gln249fs Single submitter DICER1-related tumor predisposition
  • p.Gln394fs Single submitter DICER1-related tumor predisposition
  • p.Gln467fs Single submitter hereditary neoplastic syndrome
  • p.Gln488fs Single submitter hereditary neoplastic syndrome
  • p.Gln766fs Single submitter DICER1-related tumor predisposition
  • p.Gln928Ter Single submitter DICER1-related tumor predisposition
  • p.Gln985fs Single submitter DICER1-related tumor predisposition
  • p.Glu1117Ter Single submitter DICER1-related tumor predisposition
  • p.Glu1234Ter Single submitter DICER1-related tumor predisposition
  • p.Glu123fs Single submitter DICER1-related tumor predisposition
  • p.Glu1418Ter Single submitter DICER1-related tumor predisposition
  • p.Glu1422fs Single submitter hereditary neoplastic syndrome
  • p.Glu1425fs Single submitter hereditary neoplastic syndrome
  • p.Glu1434fs Single submitter hereditary neoplastic syndrome
  • p.Glu1439_Asp1440insTer Single submitter DICER1-related tumor predisposition
  • p.Glu1439Ter Single submitter hereditary neoplastic syndrome
  • p.Glu1480Ter Single submitter DICER1-related tumor predisposition
  • p.Glu1520Ter Single submitter DICER1-related tumor predisposition
  • p.Glu1551fs Single submitter DICER1-related tumor predisposition
  • p.Glu1576Ter Single submitter DICER1-related tumor predisposition
  • p.Glu1600fs Single submitter DICER1-related tumor predisposition
  • p.Glu1600Ter Single submitter hereditary neoplastic syndrome
  • p.Glu1638fs Single submitter DICER1-related tumor predisposition
  • p.Glu1705Asp Single submitter DICER1-related tumor predisposition
  • p.Glu1705Gln Single submitter DICER1-related tumor predisposition
  • p.Glu1705Val Single submitter DICER1-related tumor predisposition
  • p.Glu1722fs Single submitter hereditary neoplastic syndrome

Pathogenic/Likely pathogenic 65

  • c.1376+1G>A Multiple submitters DICER1-related tumor predisposition
  • c.1907+1G>T Multiple submitters DICER1-related tumor predisposition
  • c.2650+1G>A Multiple submitters DICER1-related tumor predisposition
  • c.2650+1G>C Multiple submitters DICER1-related tumor predisposition
  • c.2651-1G>A Multiple submitters DICER1-related tumor predisposition
  • c.2988-2A>G Multiple submitters hereditary neoplastic syndrome
  • c.3269+1G>A Multiple submitters DICER1-related tumor predisposition
  • c.3270-1G>C Multiple submitters DICER1-related tumor predisposition
  • c.4050+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.4050+1G>T Multiple submitters DICER1-related tumor predisposition
  • c.4051-1G>A Multiple submitters hereditary neoplastic syndrome
  • c.4206+1G>T Multiple submitters DICER1-related tumor predisposition
  • c.5095+1G>A Multiple submitters DICER1-related tumor predisposition
  • c.735-1_741delinsA Multiple submitters DICER1-related tumor predisposition
  • c.904-1G>C Multiple submitters rhabdomyosarcoma, embryonal, 2
  • p.Ala1039fs Multiple submitters DICER1-related tumor predisposition
  • p.Arg1368fs Multiple submitters DICER1-related tumor predisposition
  • p.Arg392Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg745Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg86fs Multiple submitters hereditary neoplastic syndrome
  • p.Asn1093fs Multiple submitters DICER1-related tumor predisposition
  • p.Asn1118fs Multiple submitters DICER1-related tumor predisposition
  • p.Asp1320fs Multiple submitters DICER1-related tumor predisposition
  • p.Gln1552Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln249Ter Multiple submitters DICER1-related tumor predisposition
  • p.Gln548Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln841Ter Multiple submitters DICER1-related tumor predisposition
  • p.Gln84Ter Multiple submitters DICER1-related disorder
  • p.Gln851Ter Multiple submitters DICER1-related disorder
  • p.Gly1136fs Multiple submitters DICER1-related tumor predisposition
  • p.Gly1490_Ser1491insTer Multiple submitters hereditary neoplastic syndrome
  • p.Gly1587_Leu1588insTer Multiple submitters DICER1-related tumor predisposition
  • p.Gly1708Glu Multiple submitters DICER1-related tumor predisposition
  • p.His341fs Multiple submitters DICER1-related tumor predisposition
  • p.Ile1102fs Multiple submitters DICER1-related tumor predisposition
  • p.Ile1450fs Multiple submitters DICER1-related tumor predisposition
  • p.Ile804_Leu805insTer Multiple submitters hereditary neoplastic syndrome
  • p.Ile900fs Multiple submitters DICER1-related tumor predisposition
  • p.Leu1222fs Multiple submitters DICER1-related tumor predisposition
  • p.Leu1469fs Multiple submitters DICER1-related tumor predisposition
  • p.Leu297Ter Multiple submitters goiter, multinodular 1, with or without Sertoli-Leydig cell tumors
  • p.Leu313fs Multiple submitters DICER1-related tumor predisposition
  • p.Leu533fs Multiple submitters DICER1-related tumor predisposition
  • p.Lys1350fs Multiple submitters global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
  • p.Lys1362fs Multiple submitters hereditary neoplastic syndrome
  • p.Lys1671fs Multiple submitters hereditary neoplastic syndrome
  • p.Phe344fs Multiple submitters DICER1-related tumor predisposition
  • p.Phe89fs Multiple submitters DICER1-related tumor predisposition
  • p.Pro23fs Multiple submitters DICER1-related tumor predisposition
  • p.Ser1473fs Multiple submitters DICER1-related tumor predisposition
  • p.Ser1487fs Multiple submitters hereditary neoplastic syndrome
  • p.Ser1545fs Multiple submitters DICER1-related tumor predisposition
  • p.Ser198fs Multiple submitters DICER1-related tumor predisposition
  • p.Trp1098Ter Multiple submitters DICER1-related tumor predisposition
  • p.Trp1380Ter Multiple submitters hereditary neoplastic syndrome
  • p.Tyr1225Ter Multiple submitters DICER1-related tumor predisposition
  • p.Tyr1330Ter Multiple submitters DICER1-related tumor predisposition
  • p.Tyr1546Ter Multiple submitters DICER1-related tumor predisposition
  • p.Tyr1701Ter Multiple submitters DICER1-related tumor predisposition
  • p.Tyr614Ter Multiple submitters global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
  • p.Tyr722Ter Multiple submitters hereditary neoplastic syndrome
  • p.Tyr793Ter Multiple submitters DICER1-related tumor predisposition
  • p.Val1151fs Multiple submitters DICER1-related tumor predisposition
  • p.Val1370fs Multiple submitters DICER1-related tumor predisposition
  • p.Val1740fs Multiple submitters hereditary neoplastic syndrome

Likely pathogenic 140

  • c.1509+16A>G Expert panel DICER1-related tumor predisposition
  • c.1752+213A>G Expert panel DICER1-related tumor predisposition
  • c.1753-9A>G Expert panel DICER1-related tumor predisposition
  • c.1908-3C>G Expert panel DICER1-related tumor predisposition
  • c.2256+5G>A Expert panel DICER1-related tumor predisposition
  • c.2256+5G>C Expert panel DICER1-related tumor predisposition
  • c.2257-7A>G Expert panel DICER1-related tumor predisposition
  • c.5365-4A>G Expert panel DICER1-related tumor predisposition
  • c.5527+3A>G Expert panel DICER1-related tumor predisposition
  • c.734+3A>T Expert panel DICER1-related tumor predisposition
  • p.Asn1742del Expert panel DICER1-related tumor predisposition
  • p.Asp1713Val Expert panel DICER1-related tumor predisposition
  • p.Asp1822Gly Expert panel DICER1-related tumor predisposition
  • p.Asp1822Val Expert panel DICER1-related tumor predisposition
  • p.Gln841= Expert panel DICER1-related tumor predisposition
  • p.Glu292fs Expert panel DICER1-related tumor predisposition
  • p.Glu503Asp Expert panel DICER1-related tumor predisposition
  • p.Glu80Ter Expert panel DICER1-related tumor predisposition
  • p.Leu1583Arg Expert panel DICER1-related tumor predisposition
  • p.Leu1712fs Expert panel DICER1-related tumor predisposition
  • p.Leu881Pro Expert panel DICER1-related tumor predisposition
  • p.Phe896fs Expert panel DICER1-related tumor predisposition
  • p.Ser839Phe Expert panel DICER1-related tumor predisposition ⚠
  • c.1377-1G>T Multiple submitters hereditary neoplastic syndrome
  • c.2041-1G>A Multiple submitters DICER1-related tumor predisposition
  • c.2436+1dup Multiple submitters rhabdomyosarcoma, embryonal, 2
  • c.2436+1G>T Multiple submitters DICER1-related tumor predisposition
  • c.2651-1G>C Multiple submitters hereditary neoplastic syndrome
  • c.3093+1G>A Multiple submitters rhabdomyosarcoma, embryonal, 2
  • c.3094-1G>T Multiple submitters hereditary neoplastic syndrome
  • c.5364+1G>A Multiple submitters DICER1-related tumor predisposition
  • c.5365-19_5410del Multiple submitters DICER1-related tumor predisposition
  • p.Ser1344Leu Multiple submitters DICER1-related tumor predisposition
  • c.1377-2A>T Single submitter DICER1-related tumor predisposition
  • c.144+1G>C Single submitter DICER1-related tumor predisposition
  • c.145-2A>G Single submitter DICER1-related tumor predisposition
  • c.1510-1G>A Single submitter DICER1-related tumor predisposition
  • c.1510-2A>G Single submitter DICER1-related tumor predisposition
  • c.1752+2_1752+3del Single submitter DICER1-related tumor predisposition
  • c.1752+301T>G Single submitter hereditary neoplastic syndrome
  • c.1908-1G>A Single submitter DICER1-related tumor predisposition
  • c.1908-1G>T Single submitter
  • c.2041-1G>C Single submitter DICER1-related tumor predisposition
  • c.2041-2A>G Single submitter hereditary neoplastic syndrome
  • c.2041-5_2041-2del Single submitter hereditary neoplastic syndrome
  • c.2041-7_2041-2delinsAT Single submitter hereditary neoplastic syndrome
  • c.2256_2256+4del Single submitter hereditary neoplastic syndrome
  • c.2256+2T>C Single submitter DICER1-related tumor predisposition
  • c.2256+5G>T Single submitter hereditary neoplastic syndrome
  • c.2805-21_2805-2del Single submitter DICER1-related tumor predisposition
  • c.2805-2A>G Single submitter DICER1-related tumor predisposition
  • c.2988-3C>G Single submitter goiter, multinodular 1, with or without Sertoli-Leydig cell tumors
  • c.307+1G>A Single submitter DICER1-related tumor predisposition
  • c.307+1G>C Single submitter DICER1-related tumor predisposition
  • c.308-2A>G Single submitter DICER1-related tumor predisposition
  • c.3085_3093+8del Single submitter DICER1-related tumor predisposition
  • c.3092_3093+1delinsTGT Single submitter hereditary neoplastic syndrome
  • c.3093+2T>G Single submitter global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
  • c.3269+2T>A Single submitter hereditary neoplastic syndrome
  • c.3270-2A>G Single submitter hereditary neoplastic syndrome
  • c.3270-6_3270-5del Single submitter DICER1-related tumor predisposition
  • c.4050+1G>C Single submitter DICER1-related tumor predisposition
  • c.4051-1G>T Single submitter DICER1-related tumor predisposition
  • c.4051delG Single submitter hereditary neoplastic syndrome
  • c.4206+1G>C Single submitter
  • c.4206+2del Single submitter DICER1-related tumor predisposition
  • c.4207-1G>C Single submitter DICER1-related tumor predisposition
  • c.4207-2A>G Single submitter DICER1-related tumor predisposition
  • c.438+1G>A Single submitter
  • c.438+1G>T Single submitter DICER1-related tumor predisposition
  • c.439-1G>A Single submitter DICER1-related tumor predisposition
  • c.5095+1G>T Single submitter DICER1-related tumor predisposition
  • c.5096-2A>T Single submitter DICER1-related tumor predisposition
  • c.5364+1G>C Single submitter DICER1-related tumor predisposition
  • c.5527+1_5527+2delinsAA Single submitter DICER1-related tumor predisposition
  • c.5527+1G>T Single submitter DICER1-related tumor predisposition
  • c.5528-1G>A Single submitter DICER1-related tumor predisposition
  • c.5528-1G>T Single submitter DICER1-related tumor predisposition
  • c.5528-2del Single submitter DICER1-related tumor predisposition
  • c.5604-1G>A Single submitter
  • c.574-1G>A Single submitter DICER1-related tumor predisposition
  • c.574-2_574del Single submitter DICER1-related tumor predisposition
  • c.574-26A>G Single submitter hereditary neoplastic syndrome
  • c.734+1G>A Single submitter DICER1-related tumor predisposition
  • c.734+3A>C Single submitter hereditary neoplastic syndrome
  • c.904-2A>G Single submitter hereditary neoplastic syndrome
  • p.Arg245Lys Single submitter DICER1-related tumor predisposition ⚠
  • p.Arg385fs Single submitter global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
  • p.Arg554fs Single submitter global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
  • p.Asn1176Ter Single submitter pleuropulmonary blastoma
  • p.Asn1246fs Single submitter
  • p.Asn1311Ter Single submitter DICER1-related tumor predisposition
  • p.Asn1741_Ile1744del Single submitter DICER1-related tumor predisposition
  • p.Asn998fs Single submitter DICER1-related disorder
  • p.Asp989fs Single submitter DICER1-related tumor predisposition
  • p.Cys1574fs Single submitter
  • p.Gln1228Ter Single submitter
  • p.Gln1832fs Single submitter pleuropulmonary blastoma
  • p.Glu123Ter Single submitter Autosomal dominant DICER1-related disorders
  • p.Glu524fs Single submitter DICER1-related tumor predisposition
  • p.Gly1081fs Single submitter DICER1-related tumor predisposition
  • p.Gly1708Arg Single submitter DICER1-related tumor predisposition
  • p.Gly1809_Ser1814delinsAla Single submitter DICER1-related tumor predisposition
  • p.Gly444Ter Single submitter pleuropulmonary blastoma
  • p.Gly741fs Single submitter DICER1-related tumor predisposition
  • p.Gly803Arg Single submitter DICER1-related tumor predisposition
  • p.Gly823Val Single submitter pleuropulmonary blastoma
  • p.His1652fs Single submitter
  • p.His1661fs Single submitter global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
  • p.Ile1711fs Single submitter DICER1-related tumor predisposition
  • p.Ile1716Leu Single submitter ovarian cancer ⚠
  • p.Leu1014fs Single submitter DICER1-related tumor predisposition
  • p.Leu1014Ter Single submitter DICER1-related tumor predisposition
  • p.Leu243fs Single submitter
  • p.Leu303fs Single submitter pleuropulmonary blastoma
  • p.Leu675fs Single submitter global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
  • p.Leu805Pro Single submitter DICER1-related tumor predisposition
  • p.Lys300fs Single submitter Autosomal dominant DICER1-related disorders
  • p.Lys46Ter Single submitter hereditary neoplastic syndrome
  • p.Lys592fs Single submitter goiter, multinodular 1, with or without Sertoli-Leydig cell tumors
  • p.Lys592Ter Single submitter
  • p.Lys923Ter Single submitter
  • p.Met272fs Single submitter
  • p.Phe1610fs Single submitter
  • p.Phe372_Val373insTer Single submitter global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
  • p.Pro1377_Val1378insTer Single submitter DICER1-related tumor predisposition
  • p.Pro1605fs Single submitter global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
  • p.Pro817fs Single submitter global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
  • p.Pro869fs Single submitter
  • p.Ser1106fs Single submitter global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
  • p.Ser1637fs Single submitter DICER1-related tumor predisposition
  • p.Ser1747Ter Single submitter pleuropulmonary blastoma
  • p.Ser436fs Single submitter global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
  • p.Ser68fs Single submitter DICER1-related tumor predisposition
  • p.Ser958fs Single submitter DICER1-related tumor predisposition
  • p.Thr847delinsAsnPheLysHisSer Single submitter DICER1-related tumor predisposition
  • p.Tyr668fs Single submitter
  • p.Tyr761fs Single submitter
  • p.Tyr819Ter Single submitter DICER1-related tumor predisposition
  • p.Tyr876Ter Single submitter

Conflicting classifications of pathogenicity 292

  • c.1377-18T>A Single submitter global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
  • c.145-10A>G Single submitter DICER1-related tumor predisposition
  • c.1509+5C>G Single submitter hereditary neoplastic syndrome
  • c.1510-7T>C Single submitter DICER1-related tumor predisposition
  • c.1907+3A>G Single submitter global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
  • c.1907+4T>C Single submitter DICER1-related tumor predisposition
  • c.1908-7T>C Single submitter DICER1-related tumor predisposition
  • c.2040+5G>A Single submitter DICER1-related tumor predisposition
  • c.2117-5G>A Single submitter hereditary neoplastic syndrome
  • c.2257-6C>T Single submitter DICER1-related tumor predisposition
  • c.2436+14_2436+23del Single submitter DICER1-related tumor predisposition
  • c.2436+4_2436+7del Single submitter DICER1-related tumor predisposition
  • c.2436+5G>T Single submitter hereditary neoplastic syndrome
  • c.2437-4T>G Single submitter DICER1-related tumor predisposition
  • c.2437-5C>G Single submitter DICER1-related tumor predisposition
  • c.2437-6G>A Single submitter DICER1-related tumor predisposition
  • c.2651-14T>G Single submitter DICER1-related tumor predisposition
  • c.2651-16G>A Single submitter DICER1-related tumor predisposition
  • c.2651-8C>G Single submitter DICER1-related tumor predisposition
  • c.2805-3T>C Single submitter hereditary neoplastic syndrome
  • c.2987+1G>A Single submitter DICER1-related tumor predisposition ⚠
  • c.307+5T>C Single submitter hereditary neoplastic syndrome
  • c.4050+8A>G Single submitter DICER1-related tumor predisposition
  • c.4051-4A>G Single submitter DICER1-related tumor predisposition
  • c.4051-6C>T Single submitter DICER1-related tumor predisposition
  • c.4206+11_4206+13del Single submitter
  • c.4206+1G>A Single submitter DICER1-related tumor predisposition ⚠
  • c.4206+3_4206+5del Single submitter DICER1-related tumor predisposition
  • c.4206+7_4206+8dup Single submitter DICER1-related tumor predisposition
  • c.4207-3C>T Single submitter DICER1-related tumor predisposition
  • c.4207-5T>G Single submitter DICER1-related tumor predisposition
  • c.438+11T>C Single submitter DICER1-related tumor predisposition
  • c.439-7A>T Single submitter DICER1-related tumor predisposition
  • c.439-9T>C Single submitter DICER1-related tumor predisposition
  • c.5095+6G>A Single submitter DICER1-related tumor predisposition
  • c.5364+1187T>G Single submitter rhabdomyosarcoma, embryonal, 2
  • c.5365-3T>C Single submitter hereditary neoplastic syndrome
  • c.5365-5A>G Single submitter DICER1-related tumor predisposition
  • c.5365-9C>T Single submitter DICER1-related tumor predisposition
  • c.5527+7T>A Single submitter cancer or benign tumor
  • c.5528-6T>C Single submitter DICER1-related tumor predisposition
  • c.5603+10A>C Single submitter DICER1-related tumor predisposition
  • c.573+4A>G Single submitter DICER1-related tumor predisposition
  • c.574-6T>C Single submitter DICER1-related tumor predisposition
  • c.574-7_574-5del Single submitter DICER1-related tumor predisposition
  • c.734+3A>G Single submitter global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
  • c.734+4T>A Single submitter DICER1-related tumor predisposition
  • c.734+4T>C Single submitter DICER1-related tumor predisposition
  • c.734+6C>T Single submitter DICER1-related tumor predisposition
  • c.904-5del Single submitter DICER1-related tumor predisposition
  • c.904-5T>C Single submitter DICER1-related tumor predisposition
  • c.904-5T>G Single submitter hereditary neoplastic syndrome
  • c.-45-4405C>T Single submitter
  • c.*1506C>T Single submitter DICER1-related tumor predisposition
  • c.*997C>G Single submitter DICER1-related tumor predisposition
  • p.Ala1051Pro Single submitter DICER1-related tumor predisposition ⚠
  • p.Ala107Val Single submitter DICER1-related tumor predisposition ⚠
  • p.Ala1087Glu Single submitter DICER1-related tumor predisposition ⚠
  • p.Ala1087Gly Single submitter global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome ⚠
  • p.Ala1087Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala1170Thr Single submitter DICER1-related tumor predisposition ⚠
  • p.Ala155Thr Single submitter DICER1-related tumor predisposition ⚠
  • p.Ala1602= Single submitter hereditary neoplastic syndrome
  • p.Ala1602Gly Single submitter DICER1-related tumor predisposition ⚠
  • p.Ala1602Thr Single submitter DICER1-related tumor predisposition ⚠
  • p.Ala1624Pro Single submitter DICER1-related tumor predisposition ⚠
  • p.Ala308Ser Single submitter DICER1-related tumor predisposition ⚠
  • p.Ala564Val Single submitter DICER1-related tumor predisposition ⚠
  • p.Ala872= Single submitter DICER1-related tumor predisposition
  • p.Arg1083Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg1090= Single submitter hereditary neoplastic syndrome
  • p.Arg1154Ser Single submitter global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome ⚠
  • p.Arg1368= Single submitter DICER1-related tumor predisposition
  • p.Arg1368Cys Single submitter global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome ⚠
  • p.Arg1451Lys Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg1599Trp Single submitter global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome ⚠
  • p.Arg1607Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg1607Trp Single submitter DICER1-related tumor predisposition ⚠
  • p.Arg1630Cys Single submitter global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome ⚠
  • p.Arg1630His Single submitter global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome ⚠
  • p.Arg187= Single submitter DICER1-related tumor predisposition
  • p.Arg245= Single submitter DICER1-related tumor predisposition
  • p.Arg307Cys Single submitter DICER1-related tumor predisposition ⚠
  • p.Arg307His Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg490Cys Single submitter global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome ⚠
  • p.Arg544Gln Single submitter global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome ⚠
  • p.Arg636= Single submitter DICER1-related tumor predisposition
  • p.Arg692= Single submitter DICER1-related tumor predisposition
  • p.Asn1112Asp Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn1118Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn1183Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn126Asp Single submitter DICER1-related tumor predisposition ⚠
  • p.Asn1529= Single submitter hereditary neoplastic syndrome
  • p.Asn157Ser Single submitter DICER1-related tumor predisposition ⚠
  • p.Asn1611Ser Single submitter DICER1-related tumor predisposition ⚠
  • p.Asn1616Ser Single submitter DICER1-related tumor predisposition ⚠
  • p.Asn161Asp Single submitter DICER1-related tumor predisposition ⚠
  • p.Asn161His Single submitter DICER1-related tumor predisposition ⚠
  • p.Asn1921Ser Single submitter DICER1-related disorder ⚠
  • p.Asn195Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn233Ser Single submitter global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome ⚠
  • p.Asn279Tyr Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn285Ser Single submitter DICER1-related tumor predisposition ⚠
  • p.Asn405Ser Single submitter DICER1-related tumor predisposition ⚠
  • p.Asn408Ser Single submitter DICER1-related tumor predisposition ⚠
  • p.Asn440Ser Single submitter DICER1-related tumor predisposition ⚠
  • p.Asn628Ser Single submitter global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome ⚠
  • p.Asn982Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp1077Asn Single submitter ovarian cancer ⚠
  • p.Asp1088Glu Single submitter DICER1-related tumor predisposition ⚠
  • p.Asp118Asn Single submitter DICER1-related tumor predisposition ⚠
  • p.Asp1266Glu Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp1266Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp1276Asn Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp1276Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp1405Glu Single submitter DICER1-related tumor predisposition ⚠
  • p.Asp1502= Single submitter DICER1-related tumor predisposition
  • p.Asp1709Gly Single submitter DICER1-related tumor predisposition ⚠
  • p.Asp305= Single submitter hereditary neoplastic syndrome
  • p.Asp575Glu Single submitter global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome ⚠
  • p.Asp606Asn Single submitter DICER1-related tumor predisposition ⚠
  • p.Asp620Asn Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp797Gly Single submitter DICER1-related tumor predisposition ⚠
  • p.Asp871Asn Single submitter DICER1-related tumor predisposition ⚠
  • p.Asp871Val Single submitter DICER1-related tumor predisposition ⚠
  • p.Asp873Glu Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp886= Single submitter DICER1-related tumor predisposition
  • p.Asp88Val Single submitter DICER1-related tumor predisposition ⚠
  • p.Cys1153= Single submitter DICER1-related tumor predisposition
  • p.Cys1569= Single submitter DICER1-related tumor predisposition
  • p.Cys1621Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln1182= Single submitter hereditary neoplastic syndrome
  • p.Gln1230= Single submitter DICER1-related tumor predisposition
  • p.Gln1269Glu Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln1279Glu Single submitter DICER1-related tumor predisposition ⚠
  • p.Gln7Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln851= Single submitter DICER1-related tumor predisposition
  • p.Glu1159Gln Single submitter global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome ⚠
  • p.Glu1226Ala Single submitter global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome ⚠
  • p.Glu1226Lys Single submitter global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome ⚠
  • p.Glu1313= Single submitter hereditary neoplastic syndrome
  • p.Glu136Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu1420del Single submitter hereditary neoplastic syndrome
  • p.Glu1422Asp Single submitter DICER1-related tumor predisposition ⚠
  • p.Glu1670= Single submitter hereditary neoplastic syndrome
  • p.Glu1803= Single submitter DICER1-related tumor predisposition
  • p.Glu1813Gln Single submitter DICER1-related tumor predisposition ⚠
  • p.Glu1813Lys Single submitter DICER1-related tumor predisposition ⚠
  • p.Glu1843= Single submitter hereditary neoplastic syndrome
  • p.Glu339Asp Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu360= Single submitter hereditary neoplastic syndrome
  • p.Glu53= Single submitter DICER1-related tumor predisposition
  • p.Glu731Lys Single submitter DICER1-related tumor predisposition ⚠
  • p.Glu966= Single submitter DICER1-related tumor predisposition
  • p.Gly1162Ser Single submitter DICER1-related tumor predisposition ⚠
  • p.Gly1187Asp Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly1319= Single submitter hereditary neoplastic syndrome
  • p.Gly1568= Single submitter hereditary neoplastic syndrome
  • p.Gly162Cys Single submitter DICER1-related tumor predisposition ⚠
  • p.Gly1824Val Single submitter DICER1-related tumor predisposition ⚠
  • p.Gly258Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly483= Single submitter DICER1-related tumor predisposition
  • p.Gly597Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly621Asp Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly908= Single submitter hereditary neoplastic syndrome
  • p.Gly93Glu Single submitter global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome ⚠
  • p.His1165Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.His711= Single submitter DICER1-related tumor predisposition
  • p.Ile1110Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile1110Val Single submitter DICER1-related tumor predisposition ⚠
  • p.Ile1127Ser Single submitter goiter, multinodular 1, with or without Sertoli-Leydig cell tumors ⚠
  • p.Ile149Val Single submitter DICER1-related tumor predisposition ⚠
  • p.Ile169Val Single submitter DICER1-related tumor predisposition ⚠
  • p.Ile229Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile569Met Single submitter DICER1-related tumor predisposition ⚠
  • p.Ile569Thr Single submitter ovarian cancer ⚠
  • p.Ile627Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile846Val Single submitter global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome ⚠
  • p.Ile85Met Single submitter DICER1-related tumor predisposition ⚠
  • p.Ile892Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile907Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile907Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile909Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Leu1037= Single submitter DICER1-related tumor predisposition
  • p.Leu1054= Single submitter hereditary neoplastic syndrome
  • p.Leu1156Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Leu1243Pro Single submitter DICER1-related tumor predisposition ⚠
  • p.Leu127Val Single submitter DICER1-related tumor predisposition ⚠
  • p.Leu1469Pro Single submitter global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome ⚠
  • p.Leu1591= Single submitter DICER1-related tumor predisposition
  • p.Leu1603Pro Single submitter DICER1-related tumor predisposition ⚠
  • p.Leu1634Ser Single submitter DICER1-related tumor predisposition ⚠
  • p.Leu1777His Single submitter DICER1-related tumor predisposition ⚠
  • p.Leu1858= Single submitter hereditary neoplastic syndrome
  • p.Leu879= Single submitter hereditary neoplastic syndrome
  • p.Leu983Val Single submitter global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome ⚠
  • p.Lys120= Single submitter DICER1-related tumor predisposition
  • p.Lys1241Arg Single submitter DICER1-related tumor predisposition ⚠
  • p.Lys1272Arg Single submitter global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome ⚠
  • p.Lys1601Met Single submitter DICER1-related tumor predisposition ⚠
  • p.Lys191= Single submitter hereditary neoplastic syndrome
  • p.Lys1913Arg Single submitter DICER1-related tumor predisposition ⚠
  • p.Lys213= Single submitter DICER1-related tumor predisposition
  • p.Lys231= Single submitter hereditary neoplastic syndrome
  • p.Lys231Arg Single submitter DICER1-related tumor predisposition ⚠
  • p.Lys291Glu Single submitter hereditary neoplastic syndrome ⚠
  • p.Lys429Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Lys46= Single submitter hereditary neoplastic syndrome
  • p.Lys652Thr Single submitter global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome ⚠
  • p.Lys832Asn Single submitter hereditary neoplastic syndrome ⚠
  • p.Lys913Glu Single submitter hereditary neoplastic syndrome ⚠
  • p.Lys913Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Lys973Asn Single submitter global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome ⚠
  • p.Met1258Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Met1275Val Single submitter DICER1-related tumor predisposition ⚠
  • p.Met1407Val Single submitter DICER1-related tumor predisposition ⚠
  • p.Met1492Val Single submitter DICER1-related tumor predisposition ⚠
  • p.Met17Leu Single submitter DICER1-related tumor predisposition ⚠
  • p.Met24Val Single submitter DICER1-related tumor predisposition ⚠
  • p.Met605Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Met837Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Phe351Leu Single submitter DICER1-related tumor predisposition ⚠
  • p.Pro1092= Single submitter DICER1-related tumor predisposition
  • p.Pro1210= Single submitter DICER1-related tumor predisposition
  • p.Pro259Leu Single submitter rhabdomyosarcoma, embryonal, 2 ⚠
  • p.Pro26Leu Single submitter DICER1-related tumor predisposition ⚠
  • p.Pro430Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro603Thr Single submitter ovarian cancer ⚠
  • p.Pro618Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser10= Single submitter DICER1-related tumor predisposition
  • p.Ser102= Single submitter DICER1-related tumor predisposition
  • p.Ser1076Asn Single submitter DICER1-related tumor predisposition ⚠
  • p.Ser1113Tyr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser1114Cys Single submitter DICER1-related tumor predisposition ⚠
  • p.Ser1141Phe Single submitter global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome ⚠
  • p.Ser1158= Single submitter DICER1-related tumor predisposition
  • p.Ser1160Tyr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser1491Asn Single submitter DICER1-related tumor predisposition ⚠
  • p.Ser1620Asn Single submitter DICER1-related tumor predisposition ⚠
  • p.Ser1625Pro Single submitter ovarian cancer ⚠
  • p.Ser1628Gly Single submitter DICER1-related tumor predisposition ⚠
  • p.Ser1632Pro Single submitter DICER1-related tumor predisposition ⚠
  • p.Ser165Ala Single submitter DICER1-related tumor predisposition ⚠
  • p.Ser165Pro Single submitter DICER1-related disorder ⚠
  • p.Ser208= Single submitter hereditary neoplastic syndrome
  • p.Ser299= Single submitter DICER1-related tumor predisposition
  • p.Ser299Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser3Asn Single submitter DICER1-related tumor predisposition ⚠
  • p.Ser571Thr Single submitter DICER1-related tumor predisposition ⚠
  • p.Ser678Phe Single submitter DICER1-related tumor predisposition ⚠
  • p.Ser888Arg Single submitter DICER1-related tumor predisposition ⚠
  • p.Ser911Gly Single submitter DICER1-related tumor predisposition ⚠
  • p.Ser958Gly Single submitter global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome ⚠
  • p.Thr1155Met Single submitter hereditary neoplastic syndrome ⚠
  • p.Thr1214Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Thr1264Met Single submitter global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome ⚠
  • p.Thr1267Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Thr1267Ile Single submitter DICER1-related tumor predisposition ⚠
  • p.Thr1394Ala Single submitter DICER1-related tumor predisposition ⚠
  • p.Thr1474Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Thr1539Met Single submitter pediatric high-grade glioma ⚠
  • p.Thr1606Ala Single submitter DICER1-related tumor predisposition ⚠
  • p.Thr261Ala Single submitter DICER1-related tumor predisposition ⚠
  • p.Thr296Ile Single submitter DICER1-related tumor predisposition ⚠
  • p.Thr348Ala Single submitter DICER1-related tumor predisposition ⚠
  • p.Thr432Ala Single submitter DICER1-related tumor predisposition ⚠
  • p.Thr599Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Thr826= Single submitter hereditary neoplastic syndrome
  • p.Thr870Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Thr918Ala Single submitter DICER1-related tumor predisposition ⚠
  • p.Thr918Ser Single submitter DICER1-related tumor predisposition ⚠
  • p.Tyr1225Cys Single submitter DICER1-related tumor predisposition ⚠
  • p.Tyr1417Phe Single submitter global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome ⚠
  • p.Tyr163His Single submitter DICER1-related tumor predisposition ⚠
  • p.Tyr1835Cys Single submitter hereditary neoplastic syndrome ⚠
  • p.Tyr47= Single submitter DICER1-related tumor predisposition
  • p.Tyr793Cys Single submitter global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome ⚠
  • p.Tyr83Cys Single submitter global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome ⚠
  • p.Tyr972= Single submitter DICER1-related tumor predisposition
  • p.Val1082Ile Single submitter DICER1-related tumor predisposition ⚠
  • p.Val1166Ile Single submitter DICER1-related tumor predisposition ⚠
  • p.Val1270Met Single submitter DICER1-related tumor predisposition ⚠
  • p.Val1626Ala Single submitter DICER1-related tumor predisposition ⚠
  • p.Val1740= Single submitter DICER1-related tumor predisposition
  • p.Val1882= Single submitter DICER1-related tumor predisposition
  • p.Val1884= Single submitter DICER1-related tumor predisposition
  • p.Val311Ala Single submitter DICER1-related tumor predisposition ⚠
  • p.Val373Leu Single submitter rhabdomyosarcoma, embryonal, 2 ⚠
  • p.Val410= Single submitter hereditary neoplastic syndrome
  • p.Val610Ile Single submitter hereditary neoplastic syndrome ⚠
  • p.Val883Ile Single submitter DICER1-related tumor predisposition ⚠
  • p.Val97Leu Single submitter DICER1-related tumor predisposition ⚠

Benign 115

Benign/Likely benign 78

  • c.1377-4T>G Multiple submitters global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
  • c.145-22dup Multiple submitters DICER1-related tumor predisposition
  • c.1509+8A>T Multiple submitters pleuropulmonary blastoma
  • c.1510-4del Multiple submitters global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
  • c.1510-4dup Multiple submitters goiter, multinodular 1, with or without Sertoli-Leydig cell tumors
  • c.1510-5_1510-4dup Multiple submitters DICER1-related tumor predisposition
  • c.1753-43G>A Multiple submitters
  • c.1908-4A>G Multiple submitters DICER1-related tumor predisposition
  • c.2040+54dup Multiple submitters
  • c.2650+13del Multiple submitters DICER1-related tumor predisposition
  • c.2805-16del Multiple submitters DICER1-related tumor predisposition
  • c.2805-3del Multiple submitters DICER1-related tumor predisposition
  • c.307+11del Multiple submitters DICER1-related tumor predisposition
  • c.307+17T>G Multiple submitters DICER1-related tumor predisposition
  • c.3094-8_3094-5del Multiple submitters hereditary neoplastic syndrome
  • c.3269+16C>G Multiple submitters DICER1-related tumor predisposition
  • c.4050+12dup Multiple submitters DICER1-related tumor predisposition
  • c.4206+11G>T Multiple submitters DICER1-related tumor predisposition
  • c.4206+13del Multiple submitters DICER1-related tumor predisposition
  • c.4206+21del Multiple submitters DICER1-related tumor predisposition
  • c.4206+8_4206+9insTTTGTG Multiple submitters DICER1-related tumor predisposition
  • c.4206+9_4206+11del Multiple submitters DICER1-related tumor predisposition
  • c.4206+9_4206+13del Multiple submitters DICER1-related tumor predisposition
  • c.4206+9_4206+15del Multiple submitters DICER1-related tumor predisposition
  • c.4206+9_4206+17del Multiple submitters DICER1-related tumor predisposition
  • c.4206+9_4206+19del Multiple submitters DICER1-related tumor predisposition
  • c.4206+9_4206+21del Multiple submitters DICER1-related tumor predisposition
  • c.4206+9_4206+23del Multiple submitters DICER1-related tumor predisposition
  • c.4206+9_4206+27del Multiple submitters DICER1-related tumor predisposition
  • c.4206+9del Multiple submitters DICER1-related tumor predisposition
  • c.4206+9G>T Multiple submitters goiter, multinodular 1, with or without Sertoli-Leydig cell tumors
  • c.4206+9GT[13] Multiple submitters
  • c.4206+9GT[15] Multiple submitters DICER1-related tumor predisposition
  • c.4206+9GT[19] Multiple submitters
  • c.4206+9GT[21] Multiple submitters
  • c.5095+13C>T Multiple submitters DICER1-related tumor predisposition
  • c.5096-5del Multiple submitters hereditary neoplastic syndrome
  • c.5364+20A>T Multiple submitters DICER1-related tumor predisposition
  • c.5604-12G>A Multiple submitters DICER1-related tumor predisposition
  • c.5604-5dup Multiple submitters DICER1-related tumor predisposition
  • c.904-19del Multiple submitters DICER1-related tumor predisposition
  • c.-164C>T Multiple submitters DICER1-related tumor predisposition
  • c.*166A>G Multiple submitters DICER1-related tumor predisposition
  • p.Ala1087= Multiple submitters DICER1-related tumor predisposition
  • p.Ala1338= Multiple submitters DICER1-related tumor predisposition
  • p.Ala1409= Multiple submitters DICER1-related tumor predisposition
  • p.Ala564= Multiple submitters DICER1-related tumor predisposition
  • p.Arg1071= Multiple submitters hereditary neoplastic syndrome
  • p.Arg1274= Multiple submitters hereditary neoplastic syndrome
  • p.Asn1131Ser Multiple submitters DICER1-related tumor predisposition
  • p.Asp118= Multiple submitters hereditary neoplastic syndrome
  • p.Asp609= Multiple submitters hereditary neoplastic syndrome
  • p.Asp619= Multiple submitters hereditary neoplastic syndrome
  • p.Cys443= Multiple submitters DICER1-related tumor predisposition
  • p.Gly122= Multiple submitters DICER1-related tumor predisposition
  • p.Gly162Asp Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ile561Val Multiple submitters DICER1-related tumor predisposition
  • p.Ile705= Multiple submitters DICER1-related tumor predisposition
  • p.Ile853Val Multiple submitters DICER1-related tumor predisposition
  • p.Leu1469= Multiple submitters hereditary neoplastic syndrome
  • p.Leu1715= Multiple submitters DICER1-related tumor predisposition
  • p.Leu381= Multiple submitters DICER1-related tumor predisposition
  • p.Leu999= Multiple submitters DICER1-related tumor predisposition
  • p.Lys1324= Multiple submitters global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
  • p.Lys1779= Multiple submitters DICER1-related tumor predisposition
  • p.Phe787= Multiple submitters DICER1-related tumor predisposition
  • p.Ser1076= Multiple submitters hereditary neoplastic syndrome
  • p.Ser1505= Multiple submitters pleuropulmonary blastoma
  • p.Ser1631Ala Multiple submitters global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
  • p.Ser411= Multiple submitters hereditary neoplastic syndrome
  • p.Thr1264= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr1225= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr1417= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr1546= Multiple submitters DICER1-related tumor predisposition
  • p.Tyr267= Multiple submitters DICER1-related tumor predisposition
  • p.Tyr332= Multiple submitters hereditary neoplastic syndrome
  • p.Val1518= Multiple submitters DICER1-related tumor predisposition
  • p.Val680Ile Multiple submitters ovarian cancer

Likely benign 2050

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1753-7T>C Expert panel DICER1-related tumor predisposition
  • c.1907+3A>T Expert panel DICER1-related tumor predisposition
  • c.2651-4T>G Expert panel DICER1-related tumor predisposition
  • c.3269+14G>A Expert panel DICER1-related tumor predisposition
  • c.*5G>A Expert panel DICER1-related tumor predisposition
  • p.Arg1083= Expert panel DICER1-related tumor predisposition
  • p.Arg1839Gln Expert panel DICER1-related tumor predisposition
  • p.Asn1393dup Expert panel DICER1-related tumor predisposition
  • p.Asn477Ser Expert panel DICER1-related tumor predisposition
  • p.Asn984Ser Expert panel DICER1-related tumor predisposition
  • p.Asp1276Glu Expert panel DICER1-related tumor predisposition
  • p.Asp1400Gly Expert panel DICER1-related tumor predisposition
  • p.Asp1875Asn Expert panel DICER1-related tumor predisposition ⚠
  • p.Glu338Ala Expert panel DICER1-related tumor predisposition ⚠
  • p.Glu470Asp Expert panel DICER1-related tumor predisposition
  • p.Gly1459Glu Expert panel DICER1-related tumor predisposition ⚠
  • p.His1549= Expert panel DICER1-related tumor predisposition
  • p.Ile528Thr Expert panel DICER1-related tumor predisposition
  • p.Ile601Thr Expert panel DICER1-related tumor predisposition
  • p.Ile601Val Expert panel DICER1-related tumor predisposition
  • p.Leu1271Phe Expert panel DICER1-related tumor predisposition ⚠
  • p.Leu1684= Expert panel DICER1-related tumor predisposition
  • p.Leu64Phe Expert panel DICER1-related tumor predisposition
  • p.Lys386Arg Expert panel DICER1-related tumor predisposition
  • p.Met1428Lys Expert panel DICER1-related tumor predisposition
  • p.Met1483Ile Expert panel DICER1-related tumor predisposition
  • p.Met1492Thr Expert panel DICER1-related tumor predisposition
  • p.Met1649Val Expert panel DICER1-related tumor predisposition
  • p.Met605Val Expert panel DICER1-related tumor predisposition
  • p.Phe363= Expert panel DICER1-related tumor predisposition
  • p.Pro1471Leu Expert panel DICER1-related tumor predisposition
  • p.Ser1625Tyr Expert panel DICER1-related tumor predisposition ⚠
  • p.Ser248Thr Expert panel DICER1-related tumor predisposition
  • p.Thr43Met Expert panel DICER1-related tumor predisposition
  • p.Thr60Ile Expert panel DICER1-related tumor predisposition ⚠
  • p.Trp1397Arg Expert panel DICER1-related tumor predisposition
  • p.Tyr390His Expert panel DICER1-related tumor predisposition
  • p.Tyr936= Expert panel DICER1-related tumor predisposition
  • p.Val309Ile Expert panel DICER1-related tumor predisposition ⚠
  • p.Val62Ile Expert panel DICER1-related tumor predisposition
  • c.144+10C>T Multiple submitters DICER1-related tumor predisposition
  • c.145-6T>C Multiple submitters DICER1-related tumor predisposition
  • c.145-9T>C Multiple submitters DICER1-related tumor predisposition
  • c.1752+20A>G Multiple submitters DICER1-related tumor predisposition
  • c.1753-4T>C Multiple submitters hereditary neoplastic syndrome
  • c.1753-6G>A Multiple submitters DICER1-related tumor predisposition
  • c.2040+16G>T Multiple submitters DICER1-related tumor predisposition
  • c.2040+29T>C Multiple submitters
  • c.2116+65A>T Multiple submitters
  • c.2116+6G>A Multiple submitters DICER1-related tumor predisposition
  • c.2116+7A>G Multiple submitters DICER1-related tumor predisposition
  • c.2257-13T>A Multiple submitters DICER1-related tumor predisposition
  • c.2257-155G>A Multiple submitters
  • c.2436+3A>G Multiple submitters DICER1-related tumor predisposition
  • c.2437-4T>A Multiple submitters DICER1-related tumor predisposition
  • c.2437-4T>C Multiple submitters hereditary neoplastic syndrome
  • c.2651-17C>T Multiple submitters DICER1-related tumor predisposition
  • c.2651-4T>C Multiple submitters DICER1-related tumor predisposition
  • c.2804+3_2804+4insACC Multiple submitters hereditary neoplastic syndrome
  • c.2805-12T>C Multiple submitters DICER1-related tumor predisposition
  • c.2805-3dup Multiple submitters hereditary neoplastic syndrome
  • c.2805-5T>A Multiple submitters DICER1-related tumor predisposition
  • c.2987+13A>G Multiple submitters DICER1-related tumor predisposition
  • c.2988-4A>C Multiple submitters hereditary neoplastic syndrome
  • c.307+16_307+20del Multiple submitters DICER1-related tumor predisposition
  • c.307+81A>C Multiple submitters
  • c.3094-4G>C Multiple submitters DICER1-related tumor predisposition
  • c.3269+12C>T Multiple submitters DICER1-related tumor predisposition
  • c.4050+8A>T Multiple submitters DICER1-related tumor predisposition
  • c.4206+9_4206+31del Multiple submitters DICER1-related tumor predisposition
  • c.4206+9GT[12] Multiple submitters
  • c.4206+9GT[18] Multiple submitters
  • c.4207-11C>T Multiple submitters DICER1-related tumor predisposition
  • c.4207-13C>G Multiple submitters DICER1-related tumor predisposition
  • c.4207-8C>T Multiple submitters DICER1-related tumor predisposition
  • c.5096-13C>T Multiple submitters DICER1-related tumor predisposition
  • c.5096-5C>T Multiple submitters DICER1-related tumor predisposition
  • c.5364+144G>T Multiple submitters
  • c.5364+19G>A Multiple submitters DICER1-related tumor predisposition
  • c.5365-7_5365-6del Multiple submitters DICER1-related tumor predisposition
  • c.5527+10G>T Multiple submitters DICER1-related tumor predisposition
  • c.5527+7T>C Multiple submitters DICER1-related tumor predisposition
  • c.5603+87T>C Multiple submitters
  • c.5604-4A>G Multiple submitters DICER1-related tumor predisposition
  • c.573+15T>C Multiple submitters DICER1-related tumor predisposition
  • c.573+5G>A Multiple submitters DICER1-related tumor predisposition
  • c.574-19G>A Multiple submitters DICER1-related tumor predisposition
  • c.574-19G>T Multiple submitters DICER1-related tumor predisposition
  • c.574-5G>A Multiple submitters DICER1-related tumor predisposition
  • c.734+146A>G Multiple submitters
  • c.735-16G>A Multiple submitters DICER1-related tumor predisposition
  • c.735-7G>T Multiple submitters DICER1-related tumor predisposition
  • c.-20A>G Multiple submitters
  • c.*20A>G Multiple submitters
  • p.Ala1022= Multiple submitters hereditary neoplastic syndrome
  • p.Ala1067= Multiple submitters DICER1-related tumor predisposition
  • p.Ala107= Multiple submitters hereditary neoplastic syndrome
  • p.Ala1078= Multiple submitters DICER1-related tumor predisposition
  • p.Ala1132= Multiple submitters hereditary neoplastic syndrome
  • p.Ala1174= Multiple submitters DICER1-related tumor predisposition
  • p.Ala1185= Multiple submitters hereditary neoplastic syndrome
  • p.Ala1192= Multiple submitters hereditary neoplastic syndrome
  • p.Ala12= Multiple submitters hereditary neoplastic syndrome
  • p.Ala1247= Multiple submitters hereditary neoplastic syndrome
  • p.Ala131= Multiple submitters DICER1-related tumor predisposition
  • p.Ala1431= Multiple submitters DICER1-related tumor predisposition
  • p.Ala1436= Multiple submitters DICER1-related tumor predisposition
  • p.Ala1462= Multiple submitters DICER1-related tumor predisposition
  • p.Ala1478= Multiple submitters hereditary neoplastic syndrome
  • p.Ala1508= Multiple submitters DICER1-related tumor predisposition
  • p.Ala1555= Multiple submitters DICER1-related tumor predisposition
  • p.Ala1579= Multiple submitters DICER1-related tumor predisposition
  • p.Ala1622= Multiple submitters hereditary neoplastic syndrome
  • p.Ala1655= Multiple submitters hereditary neoplastic syndrome
  • p.Ala1681= Multiple submitters hereditary neoplastic syndrome
  • p.Ala1686= Multiple submitters hereditary neoplastic syndrome
  • p.Ala1738= Multiple submitters hereditary neoplastic syndrome
  • p.Ala1746= Multiple submitters DICER1-related tumor predisposition
  • p.Ala1818= Multiple submitters DICER1-related tumor predisposition
  • p.Ala1865= Multiple submitters hereditary neoplastic syndrome
  • p.Ala1904= Multiple submitters DICER1-related tumor predisposition
  • p.Ala234= Multiple submitters hereditary neoplastic syndrome
  • p.Ala277= Multiple submitters hereditary neoplastic syndrome
  • p.Ala308= Multiple submitters hereditary neoplastic syndrome
  • p.Ala318= Multiple submitters DICER1-related tumor predisposition
  • p.Ala357= Multiple submitters hereditary neoplastic syndrome
  • p.Ala366= Multiple submitters DICER1-related tumor predisposition
  • p.Ala454= Multiple submitters DICER1-related tumor predisposition
  • p.Ala472= Multiple submitters hereditary neoplastic syndrome
  • p.Ala5= Multiple submitters hereditary neoplastic syndrome
  • p.Ala510= Multiple submitters hereditary neoplastic syndrome
  • p.Ala54= Multiple submitters DICER1-related tumor predisposition
  • p.Ala55= Multiple submitters hereditary neoplastic syndrome
  • p.Ala555= Multiple submitters hereditary neoplastic syndrome
  • p.Ala630= Multiple submitters hereditary neoplastic syndrome
  • p.Ala677= Multiple submitters DICER1-related tumor predisposition
  • p.Ala690= Multiple submitters hereditary neoplastic syndrome
  • p.Ala74= Multiple submitters DICER1-related tumor predisposition
  • p.Ala864= Multiple submitters DICER1-related tumor predisposition
  • p.Ala905= Multiple submitters DICER1-related tumor predisposition
  • p.Arg1020= Multiple submitters DICER1-related tumor predisposition
  • p.Arg1060= Multiple submitters DICER1-related tumor predisposition
  • p.Arg1139= Multiple submitters DICER1-related tumor predisposition
  • p.Arg114= Multiple submitters hereditary neoplastic syndrome
  • p.Arg1358= Multiple submitters DICER1-related tumor predisposition
  • p.Arg137= Multiple submitters DICER1-related tumor predisposition
  • p.Arg1599= Multiple submitters DICER1-related tumor predisposition
  • p.Arg1599Gln Multiple submitters hereditary neoplastic syndrome
  • p.Arg1647= Multiple submitters DICER1-related tumor predisposition
  • p.Arg1703= Multiple submitters hereditary neoplastic syndrome
  • p.Arg1725= Multiple submitters hereditary neoplastic syndrome
  • p.Arg1791= Multiple submitters DICER1-related tumor predisposition
  • p.Arg1839= Multiple submitters DICER1-related tumor predisposition
  • p.Arg1851= Multiple submitters hereditary neoplastic syndrome
  • p.Arg1855= Multiple submitters DICER1-related tumor predisposition
  • p.Arg201= Multiple submitters hereditary neoplastic syndrome
  • p.Arg263= Multiple submitters DICER1-related tumor predisposition
  • p.Arg307= Multiple submitters hereditary neoplastic syndrome
  • p.Arg327= Multiple submitters hereditary neoplastic syndrome
  • p.Arg490= Multiple submitters DICER1-related tumor predisposition
  • p.Arg506= Multiple submitters DICER1-related tumor predisposition
  • p.Arg544= Multiple submitters DICER1-related tumor predisposition
  • p.Arg552= Multiple submitters DICER1-related tumor predisposition
  • p.Arg554= Multiple submitters DICER1-related tumor predisposition
  • p.Arg587= Multiple submitters DICER1-related tumor predisposition
  • p.Arg746= Multiple submitters DICER1-related tumor predisposition
  • p.Arg789= Multiple submitters hereditary neoplastic syndrome
  • p.Arg86= Multiple submitters DICER1-related tumor predisposition
  • p.Arg935= Multiple submitters hereditary neoplastic syndrome
  • p.Arg944= Multiple submitters DICER1-related tumor predisposition
  • p.Asn1093= Multiple submitters DICER1-related tumor predisposition
  • p.Asn1112= Multiple submitters hereditary neoplastic syndrome
  • p.Asn1120= Multiple submitters DICER1-related tumor predisposition
  • p.Asn1138= Multiple submitters hereditary neoplastic syndrome
  • p.Asn1152= Multiple submitters hereditary neoplastic syndrome
  • p.Asn1186= Multiple submitters DICER1-related tumor predisposition
  • p.Asn1227= Multiple submitters DICER1-related tumor predisposition
  • p.Asn126= Multiple submitters hereditary neoplastic syndrome
  • p.Asn130= Multiple submitters DICER1-related tumor predisposition
  • p.Asn1305= Multiple submitters DICER1-related tumor predisposition
  • p.Asn1379= Multiple submitters hereditary neoplastic syndrome
  • p.Asn139= Multiple submitters DICER1-related tumor predisposition
  • p.Asn1410= Multiple submitters hereditary neoplastic syndrome
  • p.Asn1534= Multiple submitters DICER1-related tumor predisposition
  • p.Asn157= Multiple submitters hereditary neoplastic syndrome
  • p.Asn1674= Multiple submitters hereditary neoplastic syndrome
  • p.Asn170= Multiple submitters DICER1-related tumor predisposition
  • p.Asn1848= Multiple submitters DICER1-related tumor predisposition
  • p.Asn1921= Multiple submitters DICER1-related tumor predisposition
  • p.Asn195= Multiple submitters DICER1-related tumor predisposition
  • p.Asn282= Multiple submitters hereditary neoplastic syndrome
  • p.Asn40= Multiple submitters DICER1-related tumor predisposition
  • p.Asn402= Multiple submitters DICER1-related tumor predisposition
  • p.Asn433= Multiple submitters DICER1-related tumor predisposition
  • p.Asn59= Multiple submitters hereditary neoplastic syndrome
  • p.Asn672= Multiple submitters DICER1-related tumor predisposition
  • p.Asn786= Multiple submitters DICER1-related tumor predisposition
  • p.Asn882= Multiple submitters DICER1-related tumor predisposition
  • p.Asn92= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1095= Multiple submitters DICER1-related tumor predisposition
  • p.Asp1103= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1147= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1195= Multiple submitters DICER1-related tumor predisposition
  • p.Asp1244= Multiple submitters DICER1-related tumor predisposition
  • p.Asp1253= Multiple submitters DICER1-related tumor predisposition
  • p.Asp1266= Multiple submitters DICER1-related tumor predisposition
  • p.Asp1395= Multiple submitters DICER1-related tumor predisposition
  • p.Asp1416= Multiple submitters DICER1-related tumor predisposition
  • p.Asp1437= Multiple submitters DICER1-related tumor predisposition
  • p.Asp1476= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1521= Multiple submitters DICER1-related tumor predisposition
  • p.Asp1538= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1547= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1561= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1636= Multiple submitters DICER1-related tumor predisposition
  • p.Asp1699= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1709= Multiple submitters DICER1-related tumor predisposition
  • p.Asp1713= Multiple submitters DICER1-related tumor predisposition
  • p.Asp1753= Multiple submitters DICER1-related tumor predisposition
  • p.Asp1770= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1771= Multiple submitters DICER1-related tumor predisposition
  • p.Asp1822= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1875= Multiple submitters hereditary neoplastic syndrome
  • p.Asp215= Multiple submitters DICER1-related tumor predisposition
  • p.Asp262= Multiple submitters hereditary neoplastic syndrome
  • p.Asp319= Multiple submitters hereditary neoplastic syndrome
  • p.Asp349= Multiple submitters hereditary neoplastic syndrome
  • p.Asp369= Multiple submitters hereditary neoplastic syndrome
  • p.Asp407= Multiple submitters DICER1-related tumor predisposition
  • p.Asp414= Multiple submitters DICER1-related tumor predisposition
  • p.Asp417= Multiple submitters DICER1-related tumor predisposition
  • p.Asp418= Multiple submitters DICER1-related tumor predisposition
  • p.Asp421= Multiple submitters hereditary neoplastic syndrome
  • p.Asp595= Multiple submitters hereditary neoplastic syndrome
  • p.Asp600= Multiple submitters DICER1-related tumor predisposition
  • p.Asp644= Multiple submitters DICER1-related tumor predisposition
  • p.Asp710= Multiple submitters DICER1-related tumor predisposition
  • p.Asp727= Multiple submitters hereditary neoplastic syndrome
  • p.Asp765= Multiple submitters DICER1-related tumor predisposition
  • p.Asp783= Multiple submitters DICER1-related tumor predisposition
  • p.Asp871= Multiple submitters DICER1-related tumor predisposition
  • p.Asp873= Multiple submitters hereditary neoplastic syndrome
  • p.Asp873His Multiple submitters DICER1-related tumor predisposition
  • p.Asp88= Multiple submitters hereditary neoplastic syndrome
  • p.Asp899= Multiple submitters DICER1-related tumor predisposition
  • p.Asp979= Multiple submitters DICER1-related tumor predisposition
  • p.Cys1038= Multiple submitters DICER1-related tumor predisposition
  • p.Cys1063= Multiple submitters DICER1-related tumor predisposition
  • p.Cys1197= Multiple submitters DICER1-related tumor predisposition
  • p.Cys1510= Multiple submitters DICER1-related tumor predisposition
  • p.Cys1604= Multiple submitters DICER1-related tumor predisposition
  • p.Cys177= Multiple submitters DICER1-related tumor predisposition
  • p.Cys306= Multiple submitters hereditary neoplastic syndrome
  • p.Cys590= Multiple submitters rhabdomyosarcoma, embryonal, 2
  • p.Cys63= Multiple submitters DICER1-related tumor predisposition
  • p.Cys699= Multiple submitters DICER1-related tumor predisposition
  • p.Gln1028= Multiple submitters DICER1-related tumor predisposition
  • p.Gln108= Multiple submitters DICER1-related tumor predisposition
  • p.Gln1135= Multiple submitters DICER1-related tumor predisposition
  • p.Gln1198= Multiple submitters DICER1-related tumor predisposition
  • p.Gln1212= Multiple submitters DICER1-related tumor predisposition
  • p.Gln1220= Multiple submitters hereditary neoplastic syndrome
  • p.Gln1447= Multiple submitters DICER1-related tumor predisposition
  • p.Gln1580= Multiple submitters hereditary neoplastic syndrome
  • p.Gln1613= Multiple submitters DICER1-related tumor predisposition
  • p.Gln1614= Multiple submitters hereditary neoplastic syndrome
  • p.Gln1726= Multiple submitters DICER1-related tumor predisposition
  • p.Gln1774= Multiple submitters hereditary neoplastic syndrome
  • p.Gln1916= Multiple submitters hereditary neoplastic syndrome
  • p.Gln249= Multiple submitters hereditary neoplastic syndrome
  • p.Gln33= Multiple submitters DICER1-related tumor predisposition
  • p.Gln394= Multiple submitters DICER1-related tumor predisposition
  • p.Gln467= Multiple submitters DICER1-related tumor predisposition
  • p.Gln548= Multiple submitters DICER1-related tumor predisposition
  • p.Gln7= Multiple submitters DICER1-related tumor predisposition
  • p.Gln747= Multiple submitters DICER1-related tumor predisposition
  • p.Gln766= Multiple submitters DICER1-related tumor predisposition
  • p.Glu1018= Multiple submitters DICER1-related tumor predisposition
  • p.Glu1025= Multiple submitters hereditary neoplastic syndrome
  • p.Glu1068= Multiple submitters DICER1-related tumor predisposition
  • p.Glu1167= Multiple submitters hereditary neoplastic syndrome
  • p.Glu1208= Multiple submitters hereditary neoplastic syndrome
  • p.Glu123= Multiple submitters DICER1-related tumor predisposition
  • p.Glu1234= Multiple submitters hereditary neoplastic syndrome
  • p.Glu1278= Multiple submitters hereditary neoplastic syndrome
  • p.Glu1415= Multiple submitters hereditary neoplastic syndrome
  • p.Glu1419= Multiple submitters hereditary neoplastic syndrome
  • p.Glu1420= Multiple submitters DICER1-related tumor predisposition
  • p.Glu1423= Multiple submitters DICER1-related tumor predisposition
  • p.Glu1424= Multiple submitters DICER1-related tumor predisposition
  • p.Glu1434= Multiple submitters DICER1-related tumor predisposition
  • p.Glu1576= Multiple submitters DICER1-related tumor predisposition
  • p.Glu1705= Multiple submitters hereditary neoplastic syndrome
  • p.Glu176= Multiple submitters DICER1-related tumor predisposition
  • p.Glu1764= Multiple submitters DICER1-related tumor predisposition
  • p.Glu1781= Multiple submitters DICER1-related tumor predisposition
  • p.Glu1796= Multiple submitters DICER1-related tumor predisposition
  • p.Glu1797= Multiple submitters hereditary neoplastic syndrome
  • p.Glu1856= Multiple submitters DICER1-related tumor predisposition
  • p.Glu1861= Multiple submitters hereditary neoplastic syndrome

Uncertain significance 3743

Showing the top 300 by review status; the full set is in the sitemap.

  • c.145-4C>T Expert panel DICER1-related tumor predisposition
  • c.2040+6T>A Expert panel DICER1-related tumor predisposition
  • c.2256+6T>A Expert panel DICER1-related tumor predisposition
  • c.2257-2A>G Expert panel DICER1-related tumor predisposition
  • c.2437-3A>G Expert panel DICER1-related tumor predisposition
  • c.2650+5_2650+7del Expert panel DICER1-related tumor predisposition
  • c.2650+5G>A Expert panel DICER1-related tumor predisposition
  • p.Ala1818Thr Expert panel DICER1-related tumor predisposition ⚠
  • p.Arg1060His Expert panel DICER1-related tumor predisposition ⚠
  • p.Arg1342Cys Expert panel DICER1-related tumor predisposition ⚠
  • p.Arg1630Leu Expert panel DICER1-related tumor predisposition ⚠
  • p.Arg1703Cys Expert panel DICER1-related tumor predisposition ⚠
  • p.Arg1725Trp Expert panel DICER1-related tumor predisposition ⚠
  • p.Arg1839Trp Expert panel DICER1-related tumor predisposition ⚠
  • p.Arg1851Cys Expert panel DICER1-related tumor predisposition ⚠
  • p.Arg1851His Expert panel DICER1-related tumor predisposition ⚠
  • p.Arg1855Ter Expert panel DICER1-related tumor predisposition
  • p.Arg1910Gln Expert panel DICER1-related tumor predisposition ⚠
  • p.Arg536Cys Expert panel DICER1-related tumor predisposition ⚠
  • p.Arg746Gly Expert panel DICER1-related tumor predisposition ⚠
  • p.Arg821Cys Expert panel DICER1-related tumor predisposition ⚠
  • p.Asn1915Ser Expert panel DICER1-related tumor predisposition ⚠
  • p.Asn1921His Expert panel DICER1-related tumor predisposition ⚠
  • p.Asn491Ser Expert panel DICER1-related tumor predisposition ⚠
  • p.Asn635Ser Expert panel DICER1-related tumor predisposition ⚠
  • p.Asp1454Gly Expert panel DICER1-related tumor predisposition ⚠
  • p.Asp1753Asn Expert panel DICER1-related tumor predisposition ⚠
  • p.Asp1753Glu Expert panel DICER1-related tumor predisposition ⚠
  • p.Asp1770His Expert panel DICER1-related tumor predisposition ⚠
  • p.Asp1810His Expert panel DICER1-related tumor predisposition ⚠
  • p.Asp421Asn Expert panel DICER1-related tumor predisposition ⚠
  • p.Asp730His Expert panel DICER1-related tumor predisposition ⚠
  • p.Cys1562Tyr Expert panel DICER1-related tumor predisposition ⚠
  • p.Gln337His Expert panel DICER1-related tumor predisposition ⚠
  • p.Glu1520del Expert panel DICER1-related tumor predisposition
  • p.Glu1564Gly Expert panel DICER1-related tumor predisposition ⚠
  • p.Glu176Val Expert panel DICER1-related tumor predisposition ⚠
  • p.Glu1813Ala Expert panel DICER1-related tumor predisposition ⚠
  • p.Glu1813Gly Expert panel DICER1-related tumor predisposition ⚠
  • p.Glu273Ala Expert panel DICER1-related tumor predisposition ⚠
  • p.Glu428Lys Expert panel DICER1-related tumor predisposition ⚠
  • p.Glu574del Expert panel DICER1-related tumor predisposition
  • p.Glu598Lys Expert panel DICER1-related tumor predisposition ⚠
  • p.Glu925Gly Expert panel DICER1-related tumor predisposition ⚠
  • p.Gly1876Arg Expert panel DICER1-related tumor predisposition ⚠
  • p.Gly485Arg Expert panel DICER1-related tumor predisposition ⚠
  • p.His1693Asn Expert panel DICER1-related tumor predisposition ⚠
  • p.Ile1453Val Expert panel DICER1-related tumor predisposition ⚠
  • p.Ile1802Val Expert panel DICER1-related tumor predisposition ⚠
  • p.Ile1842Val Expert panel DICER1-related tumor predisposition ⚠
  • p.Ile461Leu Expert panel DICER1-related tumor predisposition ⚠
  • p.Ile582Thr Expert panel DICER1-related tumor predisposition ⚠
  • p.Leu1054Pro Expert panel DICER1-related tumor predisposition ⚠
  • p.Leu1566Pro Expert panel DICER1-related tumor predisposition ⚠
  • p.Leu278Phe Expert panel DICER1-related tumor predisposition ⚠
  • p.Leu346Val Expert panel DICER1-related tumor predisposition ⚠
  • p.Lys1680Glu Expert panel DICER1-related tumor predisposition ⚠
  • p.Met1808Val Expert panel DICER1-related tumor predisposition ⚠
  • p.Met1821Val Expert panel DICER1-related tumor predisposition ⚠
  • p.Met1837Val Expert panel DICER1-related tumor predisposition ⚠
  • p.Met1838Ile Expert panel DICER1-related tumor predisposition ⚠
  • p.Met1Thr Expert panel DICER1-related tumor predisposition
  • p.Met684Thr Expert panel DICER1-related tumor predisposition ⚠
  • p.Phe1669Leu Expert panel DICER1-related tumor predisposition ⚠
  • p.Pro1493Leu Expert panel DICER1-related tumor predisposition ⚠
  • p.Pro1592Leu Expert panel DICER1-related tumor predisposition ⚠
  • p.Pro1724Leu Expert panel DICER1-related tumor predisposition ⚠
  • p.Pro216Thr Expert panel DICER1-related tumor predisposition ⚠
  • p.Ser1160Cys Expert panel DICER1-related tumor predisposition ⚠
  • p.Ser1625Phe Expert panel DICER1-related tumor predisposition ⚠
  • p.Ser1792Cys Expert panel DICER1-related tumor predisposition ⚠
  • p.Ser475Cys Expert panel DICER1-related tumor predisposition ⚠
  • p.Thr1475Ala Expert panel DICER1-related tumor predisposition ⚠
  • p.Thr1829Arg Expert panel DICER1-related tumor predisposition ⚠
  • p.Thr1881Ala Expert panel DICER1-related tumor predisposition ⚠
  • p.Thr806Met Expert panel DICER1-related tumor predisposition ⚠
  • p.Trp1831fs Expert panel DICER1-related tumor predisposition
  • p.Tyr1438Cys Expert panel DICER1-related tumor predisposition ⚠
  • p.Tyr1835Ser Expert panel DICER1-related tumor predisposition ⚠
  • p.Tyr819His Expert panel DICER1-related tumor predisposition ⚠
  • p.Val1750Ile Expert panel DICER1-related tumor predisposition ⚠
  • p.Val1761Ala Expert panel DICER1-related tumor predisposition ⚠
  • p.Val1893Ala Expert panel DICER1-related tumor predisposition ⚠
  • c.1377-3T>C Multiple submitters hereditary neoplastic syndrome
  • c.144+3A>G Multiple submitters DICER1-related tumor predisposition
  • c.1510-3C>T Multiple submitters DICER1-related tumor predisposition
  • c.1908-3C>T Multiple submitters DICER1-related tumor predisposition
  • c.2040+4A>G Multiple submitters hereditary neoplastic syndrome
  • c.2041-3C>T Multiple submitters DICER1-related tumor predisposition
  • c.2257-3T>G Multiple submitters hereditary neoplastic syndrome
  • c.2436+3A>T Multiple submitters hereditary neoplastic syndrome
  • c.2650+42_2650+43del Multiple submitters global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
  • c.2651-3A>T Multiple submitters DICER1-related tumor predisposition
  • c.2804+4G>A Multiple submitters DICER1-related tumor predisposition
  • c.2804+5G>A Multiple submitters DICER1-related tumor predisposition
  • c.2987+4A>C Multiple submitters hereditary neoplastic syndrome
  • c.2987+5G>C Multiple submitters DICER1-related tumor predisposition
  • c.3093+3A>G Multiple submitters DICER1-related tumor predisposition
  • c.3269+4T>C Multiple submitters DICER1-related tumor predisposition
  • c.4206+5_4206+6insA Multiple submitters hereditary neoplastic syndrome
  • c.4207-8C>A Multiple submitters
  • c.5365-3T>A Multiple submitters DICER1-related tumor predisposition
  • c.5604-3C>T Multiple submitters DICER1-related tumor predisposition
  • c.734+4T>G Multiple submitters hereditary neoplastic syndrome
  • c.903+4A>G Multiple submitters DICER1-related tumor predisposition
  • c.903+5G>A Multiple submitters hereditary neoplastic syndrome
  • c.-3T>C Multiple submitters hereditary neoplastic syndrome
  • c.-5G>A Multiple submitters pleuropulmonary blastoma
  • p.Ala1011Glu Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala1011Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1011Val Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala1039Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1039Val Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala103Thr Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala103Val Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala1045Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1067Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1067Val Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala1075Val Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala1078Thr Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala1078Val Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala1087Ser Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala1132Val Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala1133Ser Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala1133Thr Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala1133Val Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala1137Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1137Thr Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala1174Ser Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala1185Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1192Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1247Val Multiple submitters pleuropulmonary blastoma ⚠
  • p.Ala1259Ser Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala1259Val Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala12Ser Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala12Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala131Val Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala1326Thr Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala1338Gly Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala1338Thr Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala1338Val Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala1409Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1409Gly Multiple submitters global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome ⚠
  • p.Ala1409Thr Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala1409Val Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala1431Ser Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala1431Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1436Asp Multiple submitters global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome ⚠
  • p.Ala1478Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1517Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala155Val Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala1560Val Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala1565Ser Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala1578Thr Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala1578Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1579Ser Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala1622Thr Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala1623Gly Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala1623Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1623Thr Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala1623Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1624Val Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala1627Val Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala1681Ser Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala1690Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1710Val Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala1746Ser Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala180Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1870Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1914Thr Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala1914Val Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala20Thr Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala234Val Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala277Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala277Thr Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala277Val Multiple submitters global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome ⚠
  • p.Ala308Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala322Thr Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala357Glu Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala357Gly Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala357Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala357Val Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala36Thr Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala464Gly Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala496Thr Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala518Ser Multiple submitters global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome ⚠
  • p.Ala54Val Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala555Ser Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala555Thr Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala555Val Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala564Gly Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala564Thr Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala5Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala650Thr Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala677Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala74Leu Multiple submitters rhabdomyosarcoma, embryonal, 2
  • p.Ala74Ser Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala74Val Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala752= Multiple submitters DICER1-related tumor predisposition
  • p.Ala864Val Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala875Ser Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala930Asp Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala969Gly Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Ala969Val Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg1003Gln Multiple submitters ⚠
  • p.Arg1060Cys Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg1083Gly Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg1083Ser Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg1090Lys Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg1139del Multiple submitters hereditary neoplastic syndrome
  • p.Arg1139Lys Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg1139Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg1154Gly Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg1194Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg1274Ser Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg1314Gln Multiple submitters global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome ⚠
  • p.Arg1342His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg1358Cys Multiple submitters global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome ⚠
  • p.Arg1358His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg1368His Multiple submitters global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome ⚠
  • p.Arg1368Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg1430Gly Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg1430Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg1430Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg1451Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg1451Thr Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg1599Gly Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg1599Leu Multiple submitters global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome ⚠
  • p.Arg1607Gly Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg1676Lys Multiple submitters global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome ⚠
  • p.Arg1676Ser Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg1676Thr Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg1725Gln Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg1855Gln Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg187Gln Multiple submitters global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome ⚠
  • p.Arg187Gly Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg1895Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg1910Ter Multiple submitters DICER1-related tumor predisposition
  • p.Arg201Cys Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg201His Multiple submitters global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome ⚠
  • p.Arg201Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg201Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg245Ser Multiple submitters global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome ⚠
  • p.Arg293Gly Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg307Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg327Gly Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg342Gly Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg385Cys Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg385Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg385His Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg385Ser Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg392Gln Multiple submitters global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome ⚠
  • p.Arg490His Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg490Pro Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg490Ser Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg506Lys Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg506Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg509Gln Multiple submitters goiter, multinodular 1, with or without Sertoli-Leydig cell tumors ⚠
  • p.Arg536His Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg536Ser Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg552Gly Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg552Lys Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg554Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg587Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg624Gln Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg624Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg636Gly Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg654Gly Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg656Gln Multiple submitters rhabdomyosarcoma, embryonal, 2 ⚠
  • p.Arg656Gly Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg676Gln Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg676Gly Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg676Pro Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg688Gln Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg688Leu Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg692Lys Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg745Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg763Thr Multiple submitters global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome ⚠
  • p.Arg789Lys Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg859Trp Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg86Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg906Cys Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg906His Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg906Leu Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg91Lys Multiple submitters global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome ⚠
  • p.Arg935Gly Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg935Lys Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg937Cys Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg937His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg937Leu Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Arg95Lys Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Asn101His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn1120Ile Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Asn1145Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn1152Lys Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Asn1176Ser Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Asn1181Asp Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Asn1186Asp Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Asn1186Ile Multiple submitters DICER1-related tumor predisposition ⚠
  • p.Asn1186Ser Multiple submitters DICER1-related tumor predisposition ⚠