PRDM16 — 1544 ClinVar variants

All ClinVar germline PRDM16 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 717 flagged for review →

10 Pathogenic · 7 Likely pathogenic · 97 Conflicting · 71 Benign · 67 Benign/Likely benign · 554 Likely benign · 738 Uncertain significance

Full PRDM16 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 717

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 agree, ClinVar conflicts 73

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

PRDM16 p.Ala1035Thr Conflicting Single submitter
Inborn genetic diseases
PRDM16 p.Ala1105Thr Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Ala1152Thr Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Ala1256Thr Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Ala165Thr Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Ala259Val Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Ala365Ser Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Ala509Thr Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Ala654Val Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Ala688Thr Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Ala689Thr Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Ala761Thr Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Ala835Thr Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Ala845Val Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Ala856Thr Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Ala916Val Conflicting Single submitter
Inborn genetic diseases
PRDM16 p.Arg26Gln Conflicting Single submitter
Inborn genetic diseases
PRDM16 p.Arg525Gln Conflicting Single submitter
Inborn genetic diseases
PRDM16 p.Arg759Gln Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Arg873Gln Conflicting Single submitter
Inborn genetic diseases
PRDM16 p.Arg888Gln Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Asn161Asp Conflicting Single submitter
Inborn genetic diseases
PRDM16 p.Asn816Ser Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Asp626Val Conflicting Single submitter
PRDM16 p.Asp628Asn Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Asp679Asn Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Gln187His Conflicting Single submitter
PRDM16 p.Gln240His Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Glu1154Ala Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Glu1207Asp Conflicting Single submitter
Inborn genetic diseases
PRDM16 p.Glu1242Lys Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Glu149Lys Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Glu271Lys Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Glu576Lys Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Glu754Lys Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Gly111Asp Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Gly1136Arg Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Gly164Arg Conflicting Single submitter
Inborn genetic diseases
PRDM16 p.Gly223Ser Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Gly278Ser Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Gly651Ser Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Gly766Ser Conflicting Single submitter
familial hypertrophic cardiomyopathy
PRDM16 p.Gly766Val Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Gly798Ser Conflicting Single submitter
Inborn genetic diseases
PRDM16 p.Gly817Ser Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Gly819Arg Conflicting Single submitter
Inborn genetic diseases
PRDM16 p.Gly836Ser Conflicting Single submitter
Inborn genetic diseases
PRDM16 p.His1179Arg Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Ile302Val Conflicting Single submitter
Inborn genetic diseases
PRDM16 p.Leu151Val Conflicting Single submitter
Inborn genetic diseases
PRDM16 p.Leu653Ser Conflicting Single submitter
Inborn genetic diseases
PRDM16 p.Lys249Arg Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Met185Val Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Met598Ile Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Met709Thr Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Met914Thr Conflicting Single submitter
Inborn genetic diseases
PRDM16 p.Phe729Leu Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Pro1036Ser Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Pro216Thr Conflicting Single submitter
Inborn genetic diseases
PRDM16 p.Pro465Ala Conflicting Single submitter
Inborn genetic diseases
PRDM16 p.Pro476Ser Conflicting Single submitter
Inborn genetic diseases
PRDM16 p.Pro519Ser Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Pro659Leu Conflicting Single submitter
Inborn genetic diseases
PRDM16 p.Pro929His Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Ser1253Pro Conflicting Single submitter
Inborn genetic diseases
PRDM16 p.Ser859Leu Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Thr686Ala Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Val1118Met Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Val1143Met Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Val214Ile Conflicting Single submitter
Inborn genetic diseases
PRDM16 p.Val764Met Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Val827Ile Conflicting Single submitter
Inborn genetic diseases
PRDM16 p.Val879Met Conflicting Single submitter
Inborn genetic diseases

Predicted LoF vs a conflicting call 4

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.

PRDM16 p.Arg1091Ter Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Arg87Ter Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Arg950Ter Conflicting Single submitter
PRDM16-related disorder
PRDM16 p.Val72fs Conflicting Single submitter
left ventricular noncompaction 8

Predictors lean, ClinVar uncertain 534

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 534

PRDM16 p.Ala1035Ser Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Ala106Thr Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Ala1096Thr Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Ala1096Val Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Ala1146Thr Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Ala175Val Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Ala34Val Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Ala481Thr Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Ala545Thr Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Ala572Asp Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Ala697Ser Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Ala746Thr Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Ala796Thr Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Arg1015His Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Arg1091Pro Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Arg1095Trp Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Arg1173Gln Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Arg118Gln Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Arg118Trp Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Arg1199Cys Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Arg231Cys Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Arg246Gln Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Arg247His Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Arg26Trp Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Arg288Gln Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Arg326Cys Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Arg326His Uncertain significance Multiple submitters
PRDM16 p.Arg336Cys Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Arg336His Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Arg354Gln Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Arg443His Uncertain significance Multiple submitters
PRDM16 p.Arg492Lys Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Arg525Trp Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Arg582His Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Arg594Gly Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Arg594Thr Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Arg743Gly Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Arg812Cys Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Arg820Trp Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Arg823Cys Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Arg831Cys Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Arg846Trp Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Arg950Gln Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Arg996Gln Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Asn1082Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Asn1274Asp Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Asn161His Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Asn161Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Asp1060Glu Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Asp1122Glu Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Asp1124Asn Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Asp1129Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Asp179Asn Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Asp597Asn Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Asp636Gly Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Cys283Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Cys445Trp Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Gln130Glu Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Gln191Glu Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Glu1119Asp Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Glu1121Asp Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Glu1127Lys Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Glu1148Lys Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Glu1154Lys Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Glu234Lys Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Glu237Lys Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Glu37Lys Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Glu39Lys Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Glu580Lys Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Glu58Lys Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Glu644Lys Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Gly1103Ser Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Gly1182Ser Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Gly263Asp Uncertain significance Multiple submitters
PRDM16 p.Gly263Ser Uncertain significance Multiple submitters
PRDM16-related disorder
PRDM16 p.Gly275Ser Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Gly380Ser Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Gly429Asp Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Gly513Ser Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Gly601Ser Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Gly690Arg Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Gly919Cys Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.His1047Asn Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.His209Tyr Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.His494Gln Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.His494Pro Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.His927Asn Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.His927Pro Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.His928Gln Uncertain significance Multiple submitters
PRDM16 p.His969Tyr Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Ile200Val Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Ile517Val Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Ile74Val Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Ile807Val Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Ile901Thr Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Leu1048Pro Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Leu1198Ile Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Leu1254Pro Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Leu132Pro Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Leu260Val Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Leu273Phe Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Leu625Pro Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Leu749Phe Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Lys1009Arg Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Lys1094Arg Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Met1098Thr Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Met289Ile Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Met289Thr Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Met300Val Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Met469Val Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Met788Leu Uncertain significance Multiple submitters
dilated cardiomyopathy
PRDM16 p.Pro1108Leu Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Pro1161Thr Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Pro1190Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Pro291Leu Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Pro459Leu Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Pro45His Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Pro493Arg Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Pro493Leu Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Pro495Leu Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Pro505Ser Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Pro51Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Pro526Leu Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Pro656Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Pro678Arg Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Pro731Ser Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Pro755Gln Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Pro779Leu Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Pro795Leu Uncertain significance Multiple submitters
PRDM16-related disorder
PRDM16 p.Pro844Thr Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Pro852Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Pro865Arg Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Pro935Leu Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Pro937Ala Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Pro937Leu Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Pro937Thr Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Ser1074Leu Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Ser1144Tyr Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Ser138Leu Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Ser138Pro Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Ser599Leu Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Ser661Gly Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Ser66Leu Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Ser793Leu Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Ser797Pro Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Ser918Leu Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Ser921Pro Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Thr1045Met Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Thr1090Ala Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Thr1090Met Uncertain significance Multiple submitters
left ventricular noncompaction 8

Predictors split 106

The independent predictors disagree with each other — read with care.

PRDM16 p.Ala697Thr Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Arg288Gly Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Arg288Pro Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Arg2Gln Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Arg442Gln Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Arg759Trp Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Arg810Trp Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Asn965Ser Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Asp332Asn Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Asp332Tyr Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Asp77His Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Asp941Asn Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Asp985Asn Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Glu1031Lys Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Glu1033Lys Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Glu338Lys Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Glu88Asp Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Gly334Ser Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Gly612Arg Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Gly622Asp Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Lys473Asn Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Phe930Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Pro891Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Ser1054Cys Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Thr617Met Uncertain significance Multiple submitters
Inborn genetic diseases
PRDM16 p.Thr952Lys Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Thr952Met Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Val361Met Uncertain significance Multiple submitters
left ventricular noncompaction 8
PRDM16 p.Ala363Val Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Ala367Gly Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Arg1077Gly Uncertain significance Single submitter
Inborn genetic diseases
PRDM16 p.Arg288Trp Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Arg2Pro Uncertain significance Single submitter
PRDM16 p.Arg873Leu Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Arg873Trp Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Arg87Leu Uncertain significance Single submitter
PRDM16 p.Arg933Trp Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Arg945Gly Uncertain significance Single submitter
PRDM16 p.Arg945Ser Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Asn292Ile Uncertain significance Single submitter
Inborn genetic diseases
PRDM16 p.Asp1070Asn Likely benign Single submitter
PRDM16 p.Asp180Tyr Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Asp312Asn Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Asp370Asn Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Asp418Asn Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Asp603Asn Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Asp632His Uncertain significance Single submitter
Inborn genetic diseases
PRDM16 p.Asp864Asn Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Cys157Ser Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Glu1067Lys Conflicting Single submitter
Inborn genetic diseases
PRDM16 p.Glu1121Lys Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Glu308Lys Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Glu605Lys Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Glu69Lys Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Glu770Lys Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Glu871Lys Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Gly372Arg Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Gly49Arg Uncertain significance Single submitter
PRDM16 p.Gly705Arg Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Gly707Arg Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Gly93Glu Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.His450Tyr Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Ile197Ser Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Ile866Phe Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Ile866Thr Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Leu1065Ser Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Leu615Pro Uncertain significance Single submitter
PRDM16 p.Leu892Arg Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Leu939Phe Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Lys1004Asn Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Lys170Thr Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Lys211Asn Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Lys778Asn Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Met1236Ile Uncertain significance Single submitter
Inborn genetic diseases
PRDM16 p.Met904Thr Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Phe1079Cys Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Phe1206Leu Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Phe156Leu Uncertain significance Single submitter
PRDM16 p.Phe507Leu Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Phe514Ser Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Phe518Leu Uncertain significance Single submitter
Inborn genetic diseases
PRDM16 p.Phe725Leu Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Pro62Ser Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Pro71Leu Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Pro71Thr Uncertain significance Single submitter
Inborn genetic diseases
PRDM16 p.Pro731Arg Uncertain significance Single submitter
Inborn genetic diseases
PRDM16 p.Pro865Thr Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Pro896Ser Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Ser1071Phe Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Ser1071Tyr Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Ser295Asn Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Ser330Tyr Uncertain significance Single submitter
Inborn genetic diseases
PRDM16 p.Ser333Gly Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Ser358Thr Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Ser814Arg Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Ser991Ala Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Thr374Ser Uncertain significance Single submitter
Inborn genetic diseases
PRDM16 p.Thr610Ile Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Thr611Met Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Thr621Met Conflicting Single submitter
left ventricular noncompaction 8
PRDM16 p.Tyr73Asp Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Tyr867Cys Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Val870Ala Uncertain significance Single submitter
left ventricular noncompaction 8
PRDM16 p.Leu887Pro Pathogenic No assertion criteria
cardiomyopathy, dilated, 1LL
PRDM16 p.Thr347Met Uncertain significance No assertion criteria
PRDM16 p.Val72Gly Uncertain significance No assertion criteria

All PRDM16 variants

Pathogenic 10

p.Arg525fs Multiple submitters Left ventricular noncompaction cardiomyopathy
p.Glu487fs Multiple submitters left ventricular noncompaction 8
c.676+2T>C Single submitter
p.Cys178Ter Single submitter left ventricular noncompaction 8
p.Gln187Ter Single submitter
p.Gln543Ter Single submitter Left ventricular noncompaction cardiomyopathy
p.Gly276fs Single submitter
p.Ile866fs Single submitter Inborn genetic diseases
p.Lys702Ter Single submitter Left ventricular noncompaction cardiomyopathy
p.Leu887Pro No assertion criteria cardiomyopathy, dilated, 1LL ⚠

Likely pathogenic 7

c.2861+1G>T Single submitter left ventricular noncompaction 8
c.885-1G>A Single submitter
p.Ala900fs Single submitter PRDM16-related disorder
p.Arg812fs Single submitter left ventricular noncompaction 8
p.Gln712Ter Single submitter left ventricular noncompaction 8
p.Glu664fs Single submitter
p.Leu1048fs Single submitter left ventricular noncompaction 8

Conflicting classifications of pathogenicity 97

c.1187-10G>C Single submitter left ventricular noncompaction 8
c.2691+4C>T Single submitter left ventricular noncompaction 8
c.2691+5G>A Single submitter left ventricular noncompaction 8
c.38-14G>A Single submitter left ventricular noncompaction 8
c.*14C>T Single submitter
p.Ala1035Thr Single submitter Inborn genetic diseases ⚠
p.Ala1105Thr Single submitter left ventricular noncompaction 8 ⚠
p.Ala1152Thr Single submitter left ventricular noncompaction 8 ⚠
p.Ala1256Thr Single submitter left ventricular noncompaction 8 ⚠
p.Ala165Thr Single submitter left ventricular noncompaction 8 ⚠
p.Ala259Val Single submitter left ventricular noncompaction 8 ⚠
p.Ala365Ser Single submitter left ventricular noncompaction 8 ⚠
p.Ala509Thr Single submitter left ventricular noncompaction 8 ⚠
p.Ala654Val Single submitter left ventricular noncompaction 8 ⚠
p.Ala663= Single submitter left ventricular noncompaction 8
p.Ala688Thr Single submitter left ventricular noncompaction 8 ⚠
p.Ala689Thr Single submitter left ventricular noncompaction 8 ⚠
p.Ala761Thr Single submitter left ventricular noncompaction 8 ⚠
p.Ala835= Single submitter left ventricular noncompaction 8
p.Ala835Thr Single submitter left ventricular noncompaction 8 ⚠
p.Ala845Val Single submitter left ventricular noncompaction 8 ⚠
p.Ala856Thr Single submitter left ventricular noncompaction 8 ⚠
p.Ala916Val Single submitter Inborn genetic diseases ⚠
p.Arg1091Ter Single submitter left ventricular noncompaction 8 ⚠
p.Arg26Gln Single submitter Inborn genetic diseases ⚠
p.Arg525Gln Single submitter Inborn genetic diseases ⚠
p.Arg759Gln Single submitter left ventricular noncompaction 8 ⚠
p.Arg873Gln Single submitter Inborn genetic diseases ⚠
p.Arg87Ter Single submitter left ventricular noncompaction 8 ⚠
p.Arg888Gln Single submitter left ventricular noncompaction 8 ⚠
p.Arg933Trp Single submitter left ventricular noncompaction 8 ⚠
p.Arg950Ter Single submitter PRDM16-related disorder ⚠
p.Asn161Asp Single submitter Inborn genetic diseases ⚠
p.Asn816Ser Single submitter left ventricular noncompaction 8 ⚠
p.Asp312Asn Single submitter left ventricular noncompaction 8 ⚠
p.Asp603Asn Single submitter left ventricular noncompaction 8 ⚠
p.Asp626Val Single submitter ⚠
p.Asp628Asn Single submitter left ventricular noncompaction 8 ⚠
p.Asp679Asn Single submitter left ventricular noncompaction 8 ⚠
p.Gln1251= Single submitter left ventricular noncompaction 8
p.Gln187His Single submitter ⚠
p.Gln240His Single submitter left ventricular noncompaction 8 ⚠
p.Glu1067Lys Single submitter Inborn genetic diseases ⚠
p.Glu1154Ala Single submitter left ventricular noncompaction 8 ⚠
p.Glu1207Asp Single submitter Inborn genetic diseases ⚠
p.Glu1242Lys Single submitter left ventricular noncompaction 8 ⚠
p.Glu149Lys Single submitter left ventricular noncompaction 8 ⚠
p.Glu271Lys Single submitter left ventricular noncompaction 8 ⚠
p.Glu576Lys Single submitter left ventricular noncompaction 8 ⚠
p.Glu754Lys Single submitter left ventricular noncompaction 8 ⚠
p.Gly1042Arg Single submitter left ventricular noncompaction 8
p.Gly111Asp Single submitter left ventricular noncompaction 8 ⚠
p.Gly1136Arg Single submitter left ventricular noncompaction 8 ⚠
p.Gly164Arg Single submitter Inborn genetic diseases ⚠
p.Gly223Ser Single submitter left ventricular noncompaction 8 ⚠
p.Gly278Ser Single submitter left ventricular noncompaction 8 ⚠
p.Gly651Ser Single submitter left ventricular noncompaction 8 ⚠
p.Gly766Ser Single submitter familial hypertrophic cardiomyopathy ⚠
p.Gly766Val Single submitter left ventricular noncompaction 8 ⚠
p.Gly798Ser Single submitter Inborn genetic diseases ⚠
p.Gly817Ser Single submitter left ventricular noncompaction 8 ⚠
p.Gly819Arg Single submitter Inborn genetic diseases ⚠
p.Gly836Ser Single submitter Inborn genetic diseases ⚠
p.His1179Arg Single submitter left ventricular noncompaction 8 ⚠
p.Ile302Val Single submitter Inborn genetic diseases ⚠
p.Leu151Val Single submitter Inborn genetic diseases ⚠
p.Leu653Ser Single submitter Inborn genetic diseases ⚠
p.Lys249Arg Single submitter left ventricular noncompaction 8 ⚠
p.Met185Val Single submitter left ventricular noncompaction 8 ⚠
p.Met598Ile Single submitter left ventricular noncompaction 8 ⚠
p.Met709Thr Single submitter left ventricular noncompaction 8 ⚠
p.Met914Thr Single submitter Inborn genetic diseases ⚠
p.Phe729Leu Single submitter left ventricular noncompaction 8 ⚠
p.Pro1036Ser Single submitter left ventricular noncompaction 8 ⚠
p.Pro216Thr Single submitter Inborn genetic diseases ⚠
p.Pro465Ala Single submitter Inborn genetic diseases ⚠
p.Pro476Ser Single submitter Inborn genetic diseases ⚠
p.Pro519Ser Single submitter left ventricular noncompaction 8 ⚠
p.Pro659Leu Single submitter Inborn genetic diseases ⚠
p.Pro889Leu Single submitter left ventricular noncompaction 8
p.Pro929His Single submitter left ventricular noncompaction 8 ⚠
p.Ser1253Pro Single submitter Inborn genetic diseases ⚠
p.Ser13= Single submitter left ventricular noncompaction 8
p.Ser723= Single submitter left ventricular noncompaction 8
p.Ser859Leu Single submitter left ventricular noncompaction 8 ⚠
p.Thr1090= Single submitter left ventricular noncompaction 8
p.Thr621Met Single submitter left ventricular noncompaction 8 ⚠
p.Thr686Ala Single submitter left ventricular noncompaction 8 ⚠
p.Thr741= Single submitter left ventricular noncompaction 8
p.Val1118Met Single submitter left ventricular noncompaction 8 ⚠
p.Val1143Met Single submitter left ventricular noncompaction 8 ⚠
p.Val1167= Single submitter left ventricular noncompaction 8
p.Val214Ile Single submitter Inborn genetic diseases ⚠
p.Val72fs Single submitter left ventricular noncompaction 8 ⚠
p.Val764Met Single submitter left ventricular noncompaction 8 ⚠
p.Val827Ile Single submitter Inborn genetic diseases ⚠
p.Val879Met Single submitter Inborn genetic diseases ⚠

Benign 71

c.1033-76G>A Multiple submitters
c.1187-143C>T Multiple submitters
c.1187-77T>C Multiple submitters
c.2603+20C>T Multiple submitters left ventricular noncompaction 8
c.2604-128G>A Multiple submitters
c.2939+91G>T Multiple submitters
c.2940-17G>A Multiple submitters left ventricular noncompaction 8
c.2940-36G>T Multiple submitters left ventricular noncompaction 8
c.3109+10G>A Multiple submitters left ventricular noncompaction 8
c.3109+50C>T Multiple submitters
c.3110-85G>A Multiple submitters
c.3284+15G>T Multiple submitters left ventricular noncompaction 8
c.3285-81A>G Multiple submitters
c.3697-107T>C Multiple submitters
c.3697-68T>C Multiple submitters
c.37+25C>G Multiple submitters
c.38-15C>T Multiple submitters left ventricular noncompaction 8
c.387+167G>T Multiple submitters
c.574-141T>G Multiple submitters
c.574-92C>T Multiple submitters
c.677-111G>A Multiple submitters
c.677-16G>A Multiple submitters left ventricular noncompaction 8
c.884+39_884+69del Multiple submitters left ventricular noncompaction 8
c.885-109C>T Multiple submitters
c.*34G>A Multiple submitters
c.*50A>G Multiple submitters
c.*73C>T Multiple submitters
p.Arg357= Multiple submitters left ventricular noncompaction 8
p.Asn931= Multiple submitters left ventricular noncompaction 8
p.Asp1123= Multiple submitters left ventricular noncompaction 8
p.Cys371= Multiple submitters left ventricular noncompaction 8
p.Gly834= Multiple submitters left ventricular noncompaction 8
p.His209= Multiple submitters left ventricular noncompaction 8
p.Pro891= Multiple submitters left ventricular noncompaction 8
p.Ser148= Multiple submitters left ventricular noncompaction 8
p.Ser533Pro Multiple submitters left ventricular noncompaction 8
p.Thr506= Multiple submitters left ventricular noncompaction 8
p.Tyr261= Multiple submitters left ventricular noncompaction 8
c.1032+265G>C Single submitter
c.1186+171G>A Single submitter
c.1186+218G>A Single submitter
c.2603+217G>A Single submitter
c.2604-237C>T Single submitter
c.2604-240G>A Single submitter
c.3284+145A>G Single submitter
c.3284+179G>A Single submitter
c.3521+170G>C Single submitter
c.3522-262G>C Single submitter
c.3696+126G>A Single submitter
c.3697-137_3697-107del Single submitter
c.3697-137_3697-68del Single submitter
c.3697-146_3697-139del Single submitter
c.3697-146T>C Single submitter
c.3697-276G>A Single submitter
c.387+274G>T Single submitter
c.438+19C>G Single submitter left ventricular noncompaction 8
c.438+308C>G Single submitter
c.439-12109T>C Single submitter left ventricular noncompaction 8
c.573+1410A>G Single submitter
c.676+125G>A Single submitter
c.677-294A>G Single submitter
c.884+112C>T Single submitter
c.884+119C>G Single submitter
c.884+215G>A Single submitter
c.884+245C>T Single submitter
c.884+64_884+94del Single submitter
c.884+64_884+94dup Single submitter
c.885-136C>A Single submitter
c.885-169G>A Single submitter
c.-412G>A Single submitter
p.Pro349= Single submitter left ventricular noncompaction 8

Benign/Likely benign 67

c.2603+6C>T Multiple submitters left ventricular noncompaction 8
c.2604-16C>T Multiple submitters left ventricular noncompaction 8
c.2691+12G>T Multiple submitters left ventricular noncompaction 8
c.2692-10A>G Multiple submitters left ventricular noncompaction 8
c.2940-15G>A Multiple submitters left ventricular noncompaction 8
c.2940-18C>T Multiple submitters left ventricular noncompaction 8
c.3109+12G>A Multiple submitters left ventricular noncompaction 8
c.3109+12G>C Multiple submitters left ventricular noncompaction 8
c.3109+9C>T Multiple submitters left ventricular noncompaction 8
c.3110-13C>T Multiple submitters left ventricular noncompaction 8
c.3110-4G>A Multiple submitters left ventricular noncompaction 8
c.387+6C>T Multiple submitters left ventricular noncompaction 8
c.438+19C>T Multiple submitters left ventricular noncompaction 8
c.573+17A>G Multiple submitters left ventricular noncompaction 8
c.574-20_574-17del Multiple submitters left ventricular noncompaction 8
c.677-16_677-11dup Multiple submitters left ventricular noncompaction 8
c.884+13C>G Multiple submitters left ventricular noncompaction 8
c.884+9C>A Multiple submitters left ventricular noncompaction 8
c.885-4G>A Multiple submitters left ventricular noncompaction 8
c.-14C>A Multiple submitters
c.*15G>A Multiple submitters
p.Ala1135= Multiple submitters left ventricular noncompaction 8
p.Ala1229= Multiple submitters left ventricular noncompaction 8
p.Ala175= Multiple submitters left ventricular noncompaction 8
p.Ala34= Multiple submitters left ventricular noncompaction 8
p.Ala34Thr Multiple submitters left ventricular noncompaction 8
p.Ala573= Multiple submitters left ventricular noncompaction 8
p.Ala697= Multiple submitters left ventricular noncompaction 8
p.Arg823His Multiple submitters left ventricular noncompaction 8
p.Arg823Pro Multiple submitters left ventricular noncompaction 8
p.Asn1034= Multiple submitters left ventricular noncompaction 8
p.Asn816= Multiple submitters left ventricular noncompaction 8
p.Asp1125dup Multiple submitters left ventricular noncompaction 8
p.Asp544= Multiple submitters left ventricular noncompaction 8
p.Cys143= Multiple submitters left ventricular noncompaction 8
p.Cys396= Multiple submitters left ventricular noncompaction 8
p.Cys984= Multiple submitters left ventricular noncompaction 8
p.Gly710= Multiple submitters left ventricular noncompaction 8
p.Gly798= Multiple submitters left ventricular noncompaction 8
p.Gly818Ser Multiple submitters left ventricular noncompaction 8
p.Gly836= Multiple submitters left ventricular noncompaction 8
p.Leu1044Phe Multiple submitters left ventricular noncompaction 8
p.Leu238= Multiple submitters left ventricular noncompaction 8
p.Leu522Phe Multiple submitters left ventricular noncompaction 8
p.Leu939Val Multiple submitters left ventricular noncompaction 8
p.Lys714= Multiple submitters left ventricular noncompaction 8
p.Met847Leu Multiple submitters left ventricular noncompaction 8
p.Phe1008= Multiple submitters left ventricular noncompaction 8
p.Phe84= Multiple submitters left ventricular noncompaction 8
p.Pro1190= Multiple submitters left ventricular noncompaction 8
p.Pro515= Multiple submitters left ventricular noncompaction 8
p.Pro633Leu Multiple submitters left ventricular noncompaction 8
p.Pro67= Multiple submitters left ventricular noncompaction 8
p.Pro802= Multiple submitters left ventricular noncompaction 8
p.Pro878= Multiple submitters Inborn genetic diseases
p.Ser378= Multiple submitters left ventricular noncompaction 8
p.Ser533= Multiple submitters left ventricular noncompaction 8
p.Ser57= Multiple submitters left ventricular noncompaction 8
p.Ser793= Multiple submitters left ventricular noncompaction 8
p.Ser797= Multiple submitters left ventricular noncompaction 8
p.Thr404= Multiple submitters left ventricular noncompaction 8
p.Thr570Met Multiple submitters left ventricular noncompaction 8
p.Thr686= Multiple submitters left ventricular noncompaction 8
p.Val1101Met Multiple submitters left ventricular noncompaction 8
p.Val114= Multiple submitters left ventricular noncompaction 8
p.Val562Ile Multiple submitters left ventricular noncompaction 8
p.His895= No assertion criteria

Likely benign 554

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

c.1032+14C>T Multiple submitters left ventricular noncompaction 8
c.1032+20C>T Multiple submitters left ventricular noncompaction 8
c.1032+54G>A Multiple submitters
c.1033-14A>G Multiple submitters left ventricular noncompaction 8
c.1033-17G>T Multiple submitters left ventricular noncompaction 8
c.1187-44G>A Multiple submitters
c.2604-13T>C Multiple submitters left ventricular noncompaction 8
c.2604-25C>T Multiple submitters
c.2861+37C>T Multiple submitters
c.2861+38G>A Multiple submitters
c.2862-10T>A Multiple submitters left ventricular noncompaction 8
c.2939+12G>A Multiple submitters left ventricular noncompaction 8
c.2940-16C>T Multiple submitters left ventricular noncompaction 8
c.3284+14C>T Multiple submitters left ventricular noncompaction 8
c.3521+13G>A Multiple submitters left ventricular noncompaction 8
c.3696+10C>T Multiple submitters left ventricular noncompaction 8
c.3696+111C>T Multiple submitters
c.3696+11G>A Multiple submitters left ventricular noncompaction 8
c.3697-5G>A Multiple submitters left ventricular noncompaction 8
c.3697-6C>T Multiple submitters left ventricular noncompaction 8
c.38-19G>A Multiple submitters left ventricular noncompaction 8
c.387+13G>A Multiple submitters left ventricular noncompaction 8
c.438+15C>T Multiple submitters left ventricular noncompaction 8
c.438+16C>G Multiple submitters left ventricular noncompaction 8
c.439-130G>A Multiple submitters
c.439-21G>C Multiple submitters
c.573+112C>A Multiple submitters
c.573+8C>T Multiple submitters left ventricular noncompaction 8
c.573+9G>A Multiple submitters left ventricular noncompaction 8
c.676+17A>G Multiple submitters left ventricular noncompaction 8
c.884+7C>T Multiple submitters left ventricular noncompaction 8
c.884+8_884+38del Multiple submitters left ventricular noncompaction 8
c.885-10C>T Multiple submitters left ventricular noncompaction 8
c.885-13G>A Multiple submitters left ventricular noncompaction 8
c.885-5C>T Multiple submitters left ventricular noncompaction 8
c.*2G>A Multiple submitters
p.Ala1052Thr Multiple submitters dilated cardiomyopathy
p.Ala1166= Multiple submitters left ventricular noncompaction 8
p.Ala119= Multiple submitters left ventricular noncompaction 8
p.Ala163= Multiple submitters left ventricular noncompaction 8
p.Ala163Val Multiple submitters left ventricular noncompaction 8
p.Ala259= Multiple submitters left ventricular noncompaction 8
p.Ala503= Multiple submitters left ventricular noncompaction 8
p.Ala654= Multiple submitters left ventricular noncompaction 8
p.Ala689= Multiple submitters left ventricular noncompaction 8
p.Ala7= Multiple submitters left ventricular noncompaction 8
p.Ala700= Multiple submitters left ventricular noncompaction 8
p.Ala724= Multiple submitters left ventricular noncompaction 8
p.Ala753= Multiple submitters left ventricular noncompaction 8
p.Ala761= Multiple submitters left ventricular noncompaction 8
p.Ala916= Multiple submitters left ventricular noncompaction 8
p.Arg743= Multiple submitters
p.Arg996= Multiple submitters left ventricular noncompaction 8
p.Asn25= Multiple submitters left ventricular noncompaction 8
p.Asn292= Multiple submitters left ventricular noncompaction 8
p.Asn323= Multiple submitters left ventricular noncompaction 8
p.Asp1070= Multiple submitters left ventricular noncompaction 8
p.Asp1102= Multiple submitters left ventricular noncompaction 8
p.Asp1122= Multiple submitters left ventricular noncompaction 8
p.Asp1129= Multiple submitters left ventricular noncompaction 8
p.Asp1255= Multiple submitters left ventricular noncompaction 8
p.Asp14= Multiple submitters Inborn genetic diseases
p.Asp233= Multiple submitters left ventricular noncompaction 8
p.Asp236= Multiple submitters left ventricular noncompaction 8
p.Asp236Asn Multiple submitters left ventricular noncompaction 8
p.Asp36= Multiple submitters left ventricular noncompaction 8
p.Asp600= Multiple submitters left ventricular noncompaction 8
p.Asp606= Multiple submitters left ventricular noncompaction 8
p.Asp628= Multiple submitters left ventricular noncompaction 8
p.Asp679= Multiple submitters left ventricular noncompaction 8
p.Cys157= Multiple submitters left ventricular noncompaction 8
p.Cys587= Multiple submitters left ventricular noncompaction 8
p.Glu1148= Multiple submitters left ventricular noncompaction 8
p.Glu1266= Multiple submitters left ventricular noncompaction 8
p.Glu205= Multiple submitters left ventricular noncompaction 8
p.Glu267= Multiple submitters left ventricular noncompaction 8
p.Glu577= Multiple submitters left ventricular noncompaction 8
p.Glu605= Multiple submitters left ventricular noncompaction 8
p.Gly254= Multiple submitters left ventricular noncompaction 8
p.Gly274= Multiple submitters left ventricular noncompaction 8
p.Gly372= Multiple submitters left ventricular noncompaction 8
p.Gly455Ser Multiple submitters left ventricular noncompaction 8
p.Gly651= Multiple submitters left ventricular noncompaction 8
p.Gly687= Multiple submitters left ventricular noncompaction 8
p.Gly765= Multiple submitters left ventricular noncompaction 8
p.Gly818= Multiple submitters left ventricular noncompaction 8
p.His360= Multiple submitters left ventricular noncompaction 8
p.Ile1100= Multiple submitters left ventricular noncompaction 8
p.Ile807= Multiple submitters left ventricular noncompaction 8
p.Leu1225= Multiple submitters left ventricular noncompaction 8
p.Leu556= Multiple submitters left ventricular noncompaction 8
p.Leu558= Multiple submitters left ventricular noncompaction 8
p.Leu730= Multiple submitters left ventricular noncompaction 8
p.Leu939Ile Multiple submitters left ventricular noncompaction 8
p.Lys310= Multiple submitters left ventricular noncompaction 8
p.Lys702= Multiple submitters left ventricular noncompaction 8
p.Phe1017= Multiple submitters left ventricular noncompaction 8
p.Phe1079= Multiple submitters left ventricular noncompaction 8
p.Phe579= Multiple submitters left ventricular noncompaction 8
p.Phe704= Multiple submitters left ventricular noncompaction 8
p.Pro222= Multiple submitters left ventricular noncompaction 8
p.Pro453= Multiple submitters left ventricular noncompaction 8
p.Pro459= Multiple submitters left ventricular noncompaction 8
p.Pro47= Multiple submitters left ventricular noncompaction 8
p.Pro495= Multiple submitters left ventricular noncompaction 8
p.Pro508= Multiple submitters left ventricular noncompaction 8
p.Pro512= Multiple submitters left ventricular noncompaction 8
p.Pro526= Multiple submitters left ventricular noncompaction 8
p.Pro538= Multiple submitters left ventricular noncompaction 8
p.Pro659= Multiple submitters left ventricular noncompaction 8
p.Pro678= Multiple submitters left ventricular noncompaction 8
p.Pro706= Multiple submitters left ventricular noncompaction 8
p.Pro852= Multiple submitters left ventricular noncompaction 8
p.Ser1074= Multiple submitters left ventricular noncompaction 8
p.Ser1250= Multiple submitters Inborn genetic diseases
p.Ser138= Multiple submitters left ventricular noncompaction 8
p.Ser277= Multiple submitters left ventricular noncompaction 8
p.Ser33= Multiple submitters left ventricular noncompaction 8
p.Ser402= Multiple submitters left ventricular noncompaction 8
p.Ser596= Multiple submitters left ventricular noncompaction 8
p.Ser627= Multiple submitters left ventricular noncompaction 8
p.Ser631= Multiple submitters left ventricular noncompaction 8
p.Ser642= Multiple submitters left ventricular noncompaction 8
p.Ser66= Multiple submitters left ventricular noncompaction 8
p.Ser661= Multiple submitters left ventricular noncompaction 8
p.Ser718= Multiple submitters Inborn genetic diseases
p.Ser809Thr Multiple submitters left ventricular noncompaction 8
p.Ser859= Multiple submitters left ventricular noncompaction 8
p.Ser940= Multiple submitters left ventricular noncompaction 8
p.Thr1045= Multiple submitters left ventricular noncompaction 8
p.Thr133= Multiple submitters left ventricular noncompaction 8
p.Thr219= Multiple submitters left ventricular noncompaction 8
p.Thr252= Multiple submitters left ventricular noncompaction 8
p.Thr377= Multiple submitters left ventricular noncompaction 8
p.Thr390= Multiple submitters left ventricular noncompaction 8
p.Thr452= Multiple submitters left ventricular noncompaction 8
p.Thr569= Multiple submitters left ventricular noncompaction 8
p.Thr613= Multiple submitters left ventricular noncompaction 8
p.Thr952= Multiple submitters left ventricular noncompaction 8
p.Val1043= Multiple submitters left ventricular noncompaction 8
p.Val17Ile Multiple submitters left ventricular noncompaction 8
p.Val48Met Multiple submitters Inborn genetic diseases
c.1032+10G>A Single submitter left ventricular noncompaction 8
c.1032+12G>A Single submitter left ventricular noncompaction 8
c.1032+12G>C Single submitter left ventricular noncompaction 8
c.1032+13G>A Single submitter left ventricular noncompaction 8
c.1032+15G>A Single submitter left ventricular noncompaction 8
c.1032+21_1032+66del Single submitter left ventricular noncompaction 8
c.1032+285G>A Single submitter
c.1032+45G>A Single submitter
c.1032+46C>G Single submitter
c.1032+9C>T Single submitter left ventricular noncompaction 8
c.1033-10G>A Single submitter left ventricular noncompaction 8
c.1033-118A>G Single submitter
c.1033-11C>T Single submitter left ventricular noncompaction 8
c.1033-14A>T Single submitter left ventricular noncompaction 8
c.1033-16G>A Single submitter left ventricular noncompaction 8
c.1033-17G>A Single submitter left ventricular noncompaction 8
c.1033-18C>T Single submitter left ventricular noncompaction 8
c.1033-4C>T Single submitter
c.1033-5C>G Single submitter left ventricular noncompaction 8
c.1033-8C>T Single submitter left ventricular noncompaction 8
c.1186+10C>T Single submitter left ventricular noncompaction 8
c.1186+11G>A Single submitter left ventricular noncompaction 8
c.1187-158A>G Single submitter
c.1187-17T>C Single submitter left ventricular noncompaction 8
c.1187-8T>C Single submitter left ventricular noncompaction 8
c.2604-14G>C Single submitter left ventricular noncompaction 8
c.2604-16C>G Single submitter left ventricular noncompaction 8
c.2604-202G>A Single submitter
c.2604-20C>A Single submitter left ventricular noncompaction 8
c.2691+19T>A Single submitter left ventricular noncompaction 8
c.2691+240C>A Single submitter
c.2691+61G>A Single submitter
c.2691+7C>T Single submitter left ventricular noncompaction 8
c.2692-10A>C Single submitter left ventricular noncompaction 8
c.2692-159dup Single submitter
c.2692-19C>T Single submitter left ventricular noncompaction 8
c.2692-274G>C Single submitter
c.2692-282C>T Single submitter
c.2692-9T>C Single submitter left ventricular noncompaction 8
c.2861+11C>G Single submitter left ventricular noncompaction 8
c.2861+9C>G Single submitter left ventricular noncompaction 8
c.2862-13C>T Single submitter left ventricular noncompaction 8
c.2862-178C>G Single submitter
c.2862-17A>T Single submitter left ventricular noncompaction 8
c.2862-5C>G Single submitter left ventricular noncompaction 8
c.2862-6C>A Single submitter left ventricular noncompaction 8
c.2939+11C>T Single submitter left ventricular noncompaction 8
c.2939+14G>C Single submitter left ventricular noncompaction 8
c.2940-118G>A Single submitter
c.2940-12T>C Single submitter left ventricular noncompaction 8
c.2940-13G>C Single submitter left ventricular noncompaction 8
c.2940-16C>A Single submitter left ventricular noncompaction 8
c.2940-301A>G Single submitter
c.3109+11C>T Single submitter left ventricular noncompaction 8
c.3109+15G>A Single submitter
c.3109+15G>T Single submitter left ventricular noncompaction 8
c.3109+19G>A Single submitter left ventricular noncompaction 8
c.3109+8A>T Single submitter left ventricular noncompaction 8
c.3110-12G>A Single submitter left ventricular noncompaction 8
c.3110-19T>A Single submitter left ventricular noncompaction 8
c.3110-5C>T Single submitter left ventricular noncompaction 8
c.3110-6C>T Single submitter left ventricular noncompaction 8
c.3110-7T>C Single submitter left ventricular noncompaction 8
c.3284+13T>C Single submitter left ventricular noncompaction 8
c.3284+15G>A Single submitter left ventricular noncompaction 8
c.3284+17G>A Single submitter left ventricular noncompaction 8
c.3284+17G>C Single submitter left ventricular noncompaction 8
c.3284+46A>C Single submitter
c.3285-12G>T Single submitter left ventricular noncompaction 8
c.3285-14C>T Single submitter left ventricular noncompaction 8
c.3285-15_3285-13del Single submitter left ventricular noncompaction 8
c.3285-20C>A Single submitter left ventricular noncompaction 8
c.3285-233C>T Single submitter
c.3285-241T>C Single submitter
c.3521+12C>T Single submitter left ventricular noncompaction 8
c.3521+13G>C Single submitter
c.3521+13G>T Single submitter
c.3522-13del Single submitter left ventricular noncompaction 8
c.3522-15C>T Single submitter left ventricular noncompaction 8
c.3522-20C>G Single submitter left ventricular noncompaction 8
c.3522-227G>A Single submitter
c.3522-245del Single submitter
c.3522-5T>C Single submitter left ventricular noncompaction 8
c.3696+16A>T Single submitter left ventricular noncompaction 8
c.3696+17G>A Single submitter left ventricular noncompaction 8
c.3696+20C>G Single submitter left ventricular noncompaction 8
c.3696+20C>T Single submitter left ventricular noncompaction 8
c.3696+7A>G Single submitter left ventricular noncompaction 8
c.3697-107_3697-100del Single submitter
c.3697-12C>T Single submitter left ventricular noncompaction 8
c.3697-17C>T Single submitter left ventricular noncompaction 8
c.3697-29_3697-28insGGGATGGCCCGCCCTGCCCACGCGCTCACCTGCCTGTCCGGGATGGCCCGCCCTGCCCACGCGCTCACCTGCCTGTCC Single submitter
c.3697-5G>C Single submitter left ventricular noncompaction 8
c.37+11C>A Single submitter left ventricular noncompaction 8
c.37+23_37+55del Single submitter left ventricular noncompaction 8
c.37+256dup Single submitter
c.38-169C>A Single submitter
c.38-20C>A Single submitter left ventricular noncompaction 8
c.38-20C>T Single submitter left ventricular noncompaction 8
c.38-315C>T Single submitter
c.38-37C>T Single submitter
c.387+10C>T Single submitter left ventricular noncompaction 8
c.387+11G>A Single submitter left ventricular noncompaction 8
c.387+12C>T Single submitter left ventricular noncompaction 8
c.387+13G>C Single submitter
c.387+17G>C Single submitter left ventricular noncompaction 8
c.387+7G>A Single submitter left ventricular noncompaction 8
c.388-18C>T Single submitter left ventricular noncompaction 8
c.388-20C>T Single submitter left ventricular noncompaction 8
c.388-8T>C Single submitter left ventricular noncompaction 8
c.438+12C>G Single submitter
c.438+12C>T Single submitter left ventricular noncompaction 8
c.438+13G>A Single submitter left ventricular noncompaction 8
c.438+16C>T Single submitter left ventricular noncompaction 8
c.438+20G>A Single submitter left ventricular noncompaction 8
c.438+39G>A Single submitter
c.438+7G>T Single submitter left ventricular noncompaction 8
c.439-138G>C Single submitter
c.439-140C>G Single submitter
c.439-15C>G Single submitter left ventricular noncompaction 8
c.439-16G>A Single submitter left ventricular noncompaction 8
c.439-17C>T Single submitter left ventricular noncompaction 8
c.439-41A>G Single submitter
c.439-4G>T Single submitter left ventricular noncompaction 8
c.573+10G>A Single submitter left ventricular noncompaction 8
c.573+11G>A Single submitter left ventricular noncompaction 8
c.573+12C>G Single submitter left ventricular noncompaction 8
c.573+14C>T Single submitter left ventricular noncompaction 8
c.574-19T>G Single submitter left ventricular noncompaction 8
c.574-20C>G Single submitter left ventricular noncompaction 8
c.676+16C>A Single submitter left ventricular noncompaction 8
c.676+16C>T Single submitter left ventricular noncompaction 8
c.677-17C>T Single submitter left ventricular noncompaction 8
c.677-9C>G Single submitter left ventricular noncompaction 8
c.677-9C>T Single submitter left ventricular noncompaction 8
c.884+105G>A Single submitter
c.884+148A>G Single submitter
c.884+149C>G Single submitter
c.884+15T>C Single submitter left ventricular noncompaction 8
c.884+16_884+17del Single submitter left ventricular noncompaction 8
c.884+33_884+94del Single submitter left ventricular noncompaction 8
c.884+33_884+94dup Single submitter left ventricular noncompaction 8
c.885-13_885-11dup Single submitter left ventricular noncompaction 8
c.885-14C>G Single submitter
c.885-14C>T Single submitter left ventricular noncompaction 8
c.885-15T>C Single submitter left ventricular noncompaction 8
c.885-8C>T Single submitter left ventricular noncompaction 8
c.-13G>A Single submitter
c.-14C>T Single submitter
c.-17T>C Single submitter
c.*21C>T Single submitter
p.Ala1035= Single submitter left ventricular noncompaction 8
p.Ala1052= Single submitter left ventricular noncompaction 8
p.Ala1052Val Single submitter
p.Ala106= Single submitter left ventricular noncompaction 8
p.Ala1063= Single submitter left ventricular noncompaction 8
p.Ala1096= Single submitter left ventricular noncompaction 8
p.Ala1151= Single submitter left ventricular noncompaction 8

Uncertain significance 738

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

c.388-2A>G Multiple submitters Syncope
p.634DK[1] Multiple submitters left ventricular noncompaction 8
p.Ala1035Ser Multiple submitters left ventricular noncompaction 8 ⚠
p.Ala106Thr Multiple submitters left ventricular noncompaction 8 ⚠
p.Ala1096Thr Multiple submitters left ventricular noncompaction 8 ⚠
p.Ala1096Val Multiple submitters left ventricular noncompaction 8 ⚠
p.Ala1146Thr Multiple submitters left ventricular noncompaction 8 ⚠
p.Ala175Val Multiple submitters Inborn genetic diseases ⚠
p.Ala34Val Multiple submitters left ventricular noncompaction 8 ⚠
p.Ala481Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala545Thr Multiple submitters left ventricular noncompaction 8 ⚠
p.Ala572Asp Multiple submitters Inborn genetic diseases ⚠
p.Ala697Ser Multiple submitters left ventricular noncompaction 8 ⚠
p.Ala697Thr Multiple submitters left ventricular noncompaction 8 ⚠
p.Ala746Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala796Thr Multiple submitters left ventricular noncompaction 8 ⚠
p.Arg1015His Multiple submitters left ventricular noncompaction 8 ⚠
p.Arg1091Pro Multiple submitters left ventricular noncompaction 8 ⚠
p.Arg1095Trp Multiple submitters left ventricular noncompaction 8 ⚠
p.Arg1173Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg118Gln Multiple submitters left ventricular noncompaction 8 ⚠
p.Arg118Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg1199Cys Multiple submitters left ventricular noncompaction 8 ⚠
p.Arg231Cys Multiple submitters left ventricular noncompaction 8 ⚠
p.Arg246Gln Multiple submitters left ventricular noncompaction 8 ⚠
p.Arg247His Multiple submitters Inborn genetic diseases ⚠
p.Arg26Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg288Gln Multiple submitters left ventricular noncompaction 8 ⚠
p.Arg288Gly Multiple submitters left ventricular noncompaction 8 ⚠
p.Arg288Pro Multiple submitters left ventricular noncompaction 8 ⚠
p.Arg2Gln Multiple submitters left ventricular noncompaction 8 ⚠
p.Arg326Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg326His Multiple submitters ⚠
p.Arg336Cys Multiple submitters left ventricular noncompaction 8 ⚠
p.Arg336His Multiple submitters left ventricular noncompaction 8 ⚠
p.Arg354Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg442Gln Multiple submitters left ventricular noncompaction 8 ⚠
p.Arg443His Multiple submitters ⚠
p.Arg492Lys Multiple submitters left ventricular noncompaction 8 ⚠
p.Arg525Trp Multiple submitters left ventricular noncompaction 8 ⚠
p.Arg582His Multiple submitters Inborn genetic diseases ⚠
p.Arg594Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg594Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg743Gly Multiple submitters left ventricular noncompaction 8 ⚠
p.Arg743Leu Multiple submitters left ventricular noncompaction 8
p.Arg759Trp Multiple submitters left ventricular noncompaction 8 ⚠
p.Arg810Trp Multiple submitters left ventricular noncompaction 8 ⚠
p.Arg812Cys Multiple submitters left ventricular noncompaction 8 ⚠
p.Arg820Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg823Cys Multiple submitters left ventricular noncompaction 8 ⚠
p.Arg831Cys Multiple submitters left ventricular noncompaction 8 ⚠
p.Arg846Trp Multiple submitters left ventricular noncompaction 8 ⚠
p.Arg950Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg996Gln Multiple submitters left ventricular noncompaction 8 ⚠
p.Asn1082Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn1274Asp Multiple submitters left ventricular noncompaction 8 ⚠
p.Asn161His Multiple submitters Inborn genetic diseases ⚠
p.Asn161Tyr Multiple submitters Inborn genetic diseases ⚠
p.Asn965Ser Multiple submitters left ventricular noncompaction 8 ⚠
p.Asp1060Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp1122Glu Multiple submitters left ventricular noncompaction 8 ⚠
p.Asp1124Asn Multiple submitters left ventricular noncompaction 8 ⚠
p.Asp1129Tyr Multiple submitters Inborn genetic diseases ⚠
p.Asp179Asn Multiple submitters left ventricular noncompaction 8 ⚠
p.Asp225= Multiple submitters left ventricular noncompaction 8
p.Asp332Asn Multiple submitters left ventricular noncompaction 8 ⚠
p.Asp332Tyr Multiple submitters left ventricular noncompaction 8 ⚠
p.Asp597Asn Multiple submitters left ventricular noncompaction 8 ⚠
p.Asp636Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp77His Multiple submitters left ventricular noncompaction 8 ⚠
p.Asp941Asn Multiple submitters left ventricular noncompaction 8 ⚠
p.Asp985Asn Multiple submitters left ventricular noncompaction 8 ⚠
p.Cys283Tyr Multiple submitters Inborn genetic diseases ⚠
p.Cys445Trp Multiple submitters Inborn genetic diseases ⚠
p.Gln130Glu Multiple submitters left ventricular noncompaction 8 ⚠
p.Gln191Glu Multiple submitters Inborn genetic diseases ⚠
p.Gln841_Val842dup Multiple submitters left ventricular noncompaction 8
p.Glu1031Lys Multiple submitters left ventricular noncompaction 8 ⚠
p.Glu1033Lys Multiple submitters left ventricular noncompaction 8 ⚠
p.Glu1119Asp Multiple submitters left ventricular noncompaction 8 ⚠
p.Glu1121Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu1127Lys Multiple submitters left ventricular noncompaction 8 ⚠
p.Glu1148Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu1154Lys Multiple submitters left ventricular noncompaction 8 ⚠
p.Glu234Lys Multiple submitters left ventricular noncompaction 8 ⚠
p.Glu237Lys Multiple submitters left ventricular noncompaction 8 ⚠
p.Glu338Lys Multiple submitters left ventricular noncompaction 8 ⚠
p.Glu37Lys Multiple submitters left ventricular noncompaction 8 ⚠
p.Glu39Lys Multiple submitters left ventricular noncompaction 8 ⚠
p.Glu580Lys Multiple submitters left ventricular noncompaction 8 ⚠
p.Glu58Lys Multiple submitters left ventricular noncompaction 8 ⚠
p.Glu644Lys Multiple submitters left ventricular noncompaction 8 ⚠
p.Glu88Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly1103Ser Multiple submitters left ventricular noncompaction 8 ⚠
p.Gly1182Ser Multiple submitters left ventricular noncompaction 8 ⚠
p.Gly263Asp Multiple submitters ⚠
p.Gly263Ser Multiple submitters PRDM16-related disorder ⚠
p.Gly275Ser Multiple submitters left ventricular noncompaction 8 ⚠
p.Gly334Ser Multiple submitters left ventricular noncompaction 8 ⚠
p.Gly380Ser Multiple submitters left ventricular noncompaction 8 ⚠
p.Gly429Asp Multiple submitters left ventricular noncompaction 8 ⚠
p.Gly49Glu Multiple submitters left ventricular noncompaction 8
p.Gly513Ser Multiple submitters left ventricular noncompaction 8 ⚠
p.Gly601Ser Multiple submitters left ventricular noncompaction 8 ⚠
p.Gly612Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly622Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly690Arg Multiple submitters left ventricular noncompaction 8 ⚠
p.Gly919Cys Multiple submitters Inborn genetic diseases ⚠
p.His1047Asn Multiple submitters left ventricular noncompaction 8 ⚠
p.His209Tyr Multiple submitters left ventricular noncompaction 8 ⚠
p.His494Gln Multiple submitters left ventricular noncompaction 8 ⚠
p.His494Pro Multiple submitters left ventricular noncompaction 8 ⚠
p.His927Asn Multiple submitters left ventricular noncompaction 8 ⚠
p.His927Pro Multiple submitters left ventricular noncompaction 8 ⚠
p.His928Gln Multiple submitters ⚠
p.His969Tyr Multiple submitters left ventricular noncompaction 8 ⚠
p.Ile200Val Multiple submitters Inborn genetic diseases ⚠
p.Ile517Val Multiple submitters left ventricular noncompaction 8 ⚠
p.Ile74Val Multiple submitters left ventricular noncompaction 8 ⚠
p.Ile807Val Multiple submitters Inborn genetic diseases ⚠
p.Ile901Thr Multiple submitters left ventricular noncompaction 8 ⚠
p.Leu1048Pro Multiple submitters left ventricular noncompaction 8 ⚠
p.Leu1198Ile Multiple submitters left ventricular noncompaction 8 ⚠
p.Leu1254Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu132Pro Multiple submitters left ventricular noncompaction 8 ⚠
p.Leu260Val Multiple submitters left ventricular noncompaction 8 ⚠
p.Leu273Phe Multiple submitters left ventricular noncompaction 8 ⚠
p.Leu625Pro Multiple submitters left ventricular noncompaction 8 ⚠
p.Leu749Phe Multiple submitters left ventricular noncompaction 8 ⚠
p.Lys1009Arg Multiple submitters left ventricular noncompaction 8 ⚠
p.Lys1094Arg Multiple submitters left ventricular noncompaction 8 ⚠
p.Lys473Asn Multiple submitters Inborn genetic diseases ⚠
p.Lys578del Multiple submitters left ventricular noncompaction 8
p.Met1098Thr Multiple submitters Inborn genetic diseases ⚠
p.Met289Ile Multiple submitters Inborn genetic diseases ⚠
p.Met289Thr Multiple submitters Inborn genetic diseases ⚠
p.Met300Val Multiple submitters left ventricular noncompaction 8 ⚠
p.Met469Val Multiple submitters left ventricular noncompaction 8 ⚠
p.Met788Leu Multiple submitters dilated cardiomyopathy ⚠
p.Phe930Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro1108Leu Multiple submitters left ventricular noncompaction 8 ⚠
p.Pro1161Thr Multiple submitters left ventricular noncompaction 8 ⚠
p.Pro1190Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro291Leu Multiple submitters left ventricular noncompaction 8 ⚠
p.Pro459Leu Multiple submitters left ventricular noncompaction 8 ⚠
p.Pro45His Multiple submitters left ventricular noncompaction 8 ⚠
p.Pro493Arg Multiple submitters left ventricular noncompaction 8 ⚠
p.Pro493Leu Multiple submitters left ventricular noncompaction 8 ⚠
p.Pro495Leu Multiple submitters left ventricular noncompaction 8 ⚠
p.Pro505Ser Multiple submitters left ventricular noncompaction 8 ⚠
p.Pro51Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro526Leu Multiple submitters left ventricular noncompaction 8 ⚠
p.Pro656Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro678Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro731Ser Multiple submitters left ventricular noncompaction 8 ⚠
p.Pro755Gln Multiple submitters Inborn genetic diseases ⚠
p.Pro779Leu Multiple submitters left ventricular noncompaction 8 ⚠
p.Pro795Leu Multiple submitters PRDM16-related disorder ⚠
p.Pro844Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro852Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro865Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro891Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro935Leu Multiple submitters left ventricular noncompaction 8 ⚠
p.Pro937Ala Multiple submitters left ventricular noncompaction 8 ⚠
p.Pro937Leu Multiple submitters left ventricular noncompaction 8 ⚠
p.Pro937Thr Multiple submitters left ventricular noncompaction 8 ⚠
p.Ser1054Cys Multiple submitters Inborn genetic diseases ⚠
p.Ser1074Leu Multiple submitters left ventricular noncompaction 8 ⚠
p.Ser1144Tyr Multiple submitters left ventricular noncompaction 8 ⚠
p.Ser138Leu Multiple submitters left ventricular noncompaction 8 ⚠
p.Ser138Pro Multiple submitters left ventricular noncompaction 8 ⚠
p.Ser599Leu Multiple submitters left ventricular noncompaction 8 ⚠
p.Ser661Gly Multiple submitters Inborn genetic diseases ⚠
p.Ser66Leu Multiple submitters left ventricular noncompaction 8 ⚠
p.Ser793Leu Multiple submitters left ventricular noncompaction 8 ⚠
p.Ser797Pro Multiple submitters Inborn genetic diseases ⚠
p.Ser918Leu Multiple submitters left ventricular noncompaction 8 ⚠
p.Ser921Pro Multiple submitters left ventricular noncompaction 8 ⚠
p.Thr1045Met Multiple submitters left ventricular noncompaction 8 ⚠
p.Thr1090Ala Multiple submitters left ventricular noncompaction 8 ⚠
p.Thr1090Met Multiple submitters left ventricular noncompaction 8 ⚠
p.Thr1215Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr133Met Multiple submitters left ventricular noncompaction 8 ⚠
p.Thr304Met Multiple submitters left ventricular noncompaction 8 ⚠
p.Thr452Met Multiple submitters Inborn genetic diseases ⚠
p.Thr502Met Multiple submitters Inborn genetic diseases ⚠
p.Thr506Met Multiple submitters left ventricular noncompaction 8 ⚠
p.Thr569Met Multiple submitters left ventricular noncompaction 8 ⚠
p.Thr609Ile Multiple submitters ⚠
p.Thr617Met Multiple submitters Inborn genetic diseases ⚠
p.Thr938Met Multiple submitters left ventricular noncompaction 8 ⚠
p.Thr952Lys Multiple submitters left ventricular noncompaction 8 ⚠
p.Thr952Met Multiple submitters left ventricular noncompaction 8 ⚠
p.Tyr294His Multiple submitters left ventricular noncompaction 8 ⚠
p.Tyr451His Multiple submitters Inborn genetic diseases ⚠
p.Val114Met Multiple submitters left ventricular noncompaction 8 ⚠
p.Val1167Met Multiple submitters left ventricular noncompaction 8 ⚠
p.Val1211Met Multiple submitters Inborn genetic diseases ⚠
p.Val135Met Multiple submitters left ventricular noncompaction 8 ⚠
p.Val137Ala Multiple submitters left ventricular noncompaction 8 ⚠
p.Val158Met Multiple submitters left ventricular noncompaction 8 ⚠
p.Val210Met Multiple submitters left ventricular noncompaction 8 ⚠
p.Val220Leu Multiple submitters left ventricular noncompaction 8 ⚠
p.Val343Met Multiple submitters left ventricular noncompaction 8 ⚠
p.Val361Met Multiple submitters left ventricular noncompaction 8 ⚠
p.Val998Ile Multiple submitters left ventricular noncompaction 8 ⚠
c.1032+5C>T Single submitter left ventricular noncompaction 8
c.1032+6C>A Single submitter left ventricular noncompaction 8
c.1032+6C>T Single submitter left ventricular noncompaction 8
c.1033-7T>A Single submitter
c.2414_2603+44del Single submitter left ventricular noncompaction 8
c.2604-1G>T Single submitter left ventricular noncompaction 8
c.2692-3C>T Single submitter left ventricular noncompaction 8
c.2862-3C>T Single submitter left ventricular noncompaction 8
c.2940-3C>T Single submitter left ventricular noncompaction 8
c.2940-5T>G Single submitter left ventricular noncompaction 8
c.2940-845G>A Single submitter left ventricular noncompaction 8
c.3109+1G>C Single submitter left ventricular noncompaction 8
c.3283_3284+4del Single submitter
c.3522-14G>A Single submitter left ventricular noncompaction 8
c.3696+3A>G Single submitter left ventricular noncompaction 8
c.3697-2A>G Single submitter left ventricular noncompaction 8
c.387+2T>C Single submitter left ventricular noncompaction 8
c.387+3G>A Single submitter left ventricular noncompaction 8
c.387+6C>A Single submitter left ventricular noncompaction 8
c.439-11715_439-4716del Single submitter cerebellar dysfunction with variable cognitive and behavioral abnormalities
c.439-1G>C Single submitter left ventricular noncompaction 8
c.574-10T>G Single submitter
c.884+3G>T Single submitter
c.884+4C>T Single submitter left ventricular noncompaction 8
c.884+8_884+38dup Single submitter left ventricular noncompaction 8
p.638GK[1] Single submitter left ventricular noncompaction 8
p.Ala1063Thr Single submitter ⚠
p.Ala1151Thr Single submitter Inborn genetic diseases ⚠
p.Ala1162Val Single submitter left ventricular noncompaction 8 ⚠
p.Ala1163Thr Single submitter left ventricular noncompaction 8 ⚠
p.Ala120Val Single submitter left ventricular noncompaction 8 ⚠
p.Ala1220Gly Single submitter left ventricular noncompaction 8 ⚠
p.Ala1220Thr Single submitter left ventricular noncompaction 8 ⚠
p.Ala1233Pro Single submitter left ventricular noncompaction 8 ⚠
p.Ala1235Thr Single submitter left ventricular noncompaction 8 ⚠
p.Ala1256Ser Single submitter left ventricular noncompaction 8 ⚠
p.Ala1269Thr Single submitter left ventricular noncompaction 8 ⚠
p.Ala160Thr Single submitter ⚠
p.Ala160Val Single submitter ⚠
p.Ala165Ser Single submitter left ventricular noncompaction 8 ⚠
p.Ala175Thr Single submitter left ventricular noncompaction 8
p.Ala259Glu Single submitter left ventricular noncompaction 8 ⚠
p.Ala265Ser Single submitter left ventricular noncompaction 8 ⚠
p.Ala265Val Single submitter left ventricular noncompaction 8 ⚠
p.Ala363Val Single submitter left ventricular noncompaction 8 ⚠
p.Ala367Gly Single submitter left ventricular noncompaction 8 ⚠
p.Ala458Pro Single submitter left ventricular noncompaction 8 ⚠
p.Ala503Glu Single submitter left ventricular noncompaction 8 ⚠
p.Ala503Val Single submitter left ventricular noncompaction 8 ⚠
p.Ala545Ser Single submitter Inborn genetic diseases ⚠
p.Ala545Val Single submitter left ventricular noncompaction 8 ⚠
p.Ala561Thr Single submitter left ventricular noncompaction 8 ⚠
p.Ala573Val Single submitter left ventricular noncompaction 8 ⚠
p.Ala643Thr Single submitter left ventricular noncompaction 8 ⚠
p.Ala654fs Single submitter left ventricular noncompaction 8
p.Ala658Pro Single submitter left ventricular noncompaction 8 ⚠
p.Ala663Val Single submitter left ventricular noncompaction 8 ⚠
p.Ala689Gly Single submitter left ventricular noncompaction 8 ⚠
p.Ala724Pro Single submitter left ventricular noncompaction 8 ⚠
p.Ala724Val Single submitter left ventricular noncompaction 8 ⚠
p.Ala746Ser Single submitter left ventricular noncompaction 8 ⚠
p.Ala753Ser Single submitter Inborn genetic diseases ⚠
p.Arg1077Gly Single submitter Inborn genetic diseases ⚠
p.Arg1091Gln Single submitter left ventricular noncompaction 8 ⚠
p.Arg1174= Single submitter left ventricular noncompaction 8
p.Arg1199His Single submitter left ventricular noncompaction 8 ⚠
p.Arg1200Lys Single submitter Inborn genetic diseases ⚠
p.Arg1227Lys Single submitter left ventricular noncompaction 8 ⚠
p.Arg173His Single submitter left ventricular noncompaction 8 ⚠
p.Arg231His Single submitter left ventricular noncompaction 8 ⚠
p.Arg288Trp Single submitter left ventricular noncompaction 8 ⚠
p.Arg2Pro Single submitter ⚠
p.Arg307Cys Single submitter left ventricular noncompaction 8 ⚠
p.Arg307His Single submitter left ventricular noncompaction 8 ⚠
p.Arg357Cys Single submitter left ventricular noncompaction 8 ⚠
p.Arg357His Single submitter left ventricular noncompaction 8 ⚠
p.Arg364Pro Single submitter left ventricular noncompaction 8 ⚠
p.Arg364Trp Single submitter ⚠
p.Arg411Gln Single submitter left ventricular noncompaction 8 ⚠
p.Arg414Gln Single submitter left ventricular noncompaction 8 ⚠
p.Arg442Trp Single submitter Inborn genetic diseases ⚠
p.Arg443Cys Single submitter left ventricular noncompaction 8 ⚠
p.Arg594Lys Single submitter left ventricular noncompaction 8 ⚠
p.Arg743Gln Single submitter left ventricular noncompaction 8 ⚠
p.Arg743Ter Single submitter left ventricular noncompaction 8
p.Arg810fs Single submitter left ventricular noncompaction 8
p.Arg810Gln Single submitter left ventricular noncompaction 8 ⚠
p.Arg812His Single submitter left ventricular noncompaction 8 ⚠
p.Arg820Gln Single submitter left ventricular noncompaction 8 ⚠
p.Arg846Gln Single submitter left ventricular noncompaction 8 ⚠
p.Arg873Leu Single submitter left ventricular noncompaction 8 ⚠
p.Arg873Trp Single submitter left ventricular noncompaction 8 ⚠
p.Arg87Gln Single submitter left ventricular noncompaction 8 ⚠
p.Arg87Leu Single submitter ⚠