Sugi Variant

Sugi Variant/TRPM4

TRPM4 — 2167 ClinVar variants

All ClinVar germline TRPM4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1034 flagged for review →

2 Pathogenic · 2 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 134 Conflicting · 76 Benign · 27 Benign/Likely benign · 681 Likely benign · 1242 Uncertain significance

Full TRPM4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1034

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 2

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

Predictors agree, ClinVar conflicts 69

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

Predictors lean, ClinVar uncertain 791

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 791

Predictors split 172

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 172

All TRPM4 variants

Pathogenic 2

  • p.Ile1033Met No assertion criteria erythrokeratodermia variabilis et progressiva 6
  • p.Lys914Arg No assertion criteria progressive familial heart block type IB ⚠

Pathogenic/Likely pathogenic 2

  • p.Ile1040Thr Multiple submitters progressive familial heart block type IB
  • p.Ile376Thr Multiple submitters Cardiovascular phenotype ⚠

Likely pathogenic 3

Conflicting classifications of pathogenicity 134

  • c.1150+1G>A Single submitter progressive familial heart block type IB
  • c.1873+13C>G Single submitter progressive familial heart block type IB
  • c.1873+4C>T Single submitter Cardiovascular phenotype
  • c.1874-9C>T Single submitter progressive familial heart block type IB
  • c.2020-4A>C Single submitter Cardiovascular phenotype
  • c.2020-5C>A Single submitter progressive familial heart block type IB
  • c.2132+5G>A Single submitter progressive familial heart block type IB
  • c.2133-5G>A Single submitter progressive familial heart block type IB
  • c.2133-9C>G Single submitter progressive familial heart block type IB
  • c.2211-5C>A Single submitter Cardiovascular phenotype
  • c.24+6C>G Single submitter progressive familial heart block type IB
  • c.2779-5C>T Single submitter progressive familial heart block type IB
  • c.2954-11T>C Single submitter progressive familial heart block type IB
  • c.3329-8C>G Single submitter progressive familial heart block type IB
  • c.3641-2A>T Single submitter progressive familial heart block type IB
  • c.859-4G>A Single submitter Cardiovascular phenotype
  • c.92+12G>A Single submitter progressive familial heart block type IB
  • c.*15C>G Single submitter progressive familial heart block type IB
  • p.Ala1008Val Single submitter progressive familial heart block type IB ⚠
  • p.Ala189Val Single submitter Cardiovascular phenotype ⚠
  • p.Ala432Thr Single submitter Cardiovascular phenotype ⚠
  • p.Arg1086Gly Single submitter progressive familial heart block type IB ⚠
  • p.Arg113His Single submitter Cardiovascular phenotype ⚠
  • p.Arg1150= Single submitter progressive familial heart block type IB
  • p.Arg1177Gln Single submitter progressive familial heart block type IB ⚠
  • p.Arg164Trp Single submitter Cardiovascular phenotype ⚠
  • p.Arg212Gln Single submitter Cardiovascular phenotype ⚠
  • p.Arg212Trp Single submitter progressive familial heart block type IB ⚠
  • p.Arg214His Single submitter hypertrophic cardiomyopathy ⚠
  • p.Arg248Cys Single submitter Cardiovascular phenotype ⚠
  • p.Arg248His Single submitter Cardiovascular phenotype ⚠
  • p.Arg250Cys Single submitter Cardiovascular phenotype ⚠
  • p.Arg252Cys Single submitter Cardiovascular phenotype ⚠
  • p.Arg252His Single submitter Cardiovascular phenotype ⚠
  • p.Arg287Gln Single submitter Cardiovascular phenotype ⚠
  • p.Arg332Gln Single submitter Cardiovascular phenotype ⚠
  • p.Arg337Cys Single submitter progressive familial heart block type IB ⚠
  • p.Arg357Gln Single submitter progressive familial heart block type IB ⚠
  • p.Arg442Cys Single submitter Cardiovascular phenotype ⚠
  • p.Arg459His Single submitter Cardiovascular phenotype ⚠
  • p.Arg706Cys Single submitter Cardiovascular phenotype ⚠
  • p.Arg755His Single submitter Cardiovascular phenotype ⚠
  • p.Arg767Trp Single submitter Cardiovascular phenotype ⚠
  • p.Arg892Cys Single submitter Cardiovascular phenotype ⚠
  • p.Arg955Gln Single submitter Cardiovascular phenotype ⚠
  • p.Arg96Ter Single submitter Cardiovascular phenotype
  • p.Asn290= Single submitter Cardiovascular phenotype
  • p.Asn475Ser Single submitter Cardiovascular phenotype ⚠
  • p.Asn786= Single submitter progressive familial heart block type IB
  • p.Asn992= Single submitter progressive familial heart block type IB
  • p.Asp219= Single submitter progressive familial heart block type IB
  • p.Asp279= Single submitter Cardiovascular phenotype
  • p.Asp605Glu Single submitter Cardiovascular phenotype ⚠
  • p.Asp614Glu Single submitter Cardiovascular phenotype ⚠
  • p.Asp651Asn Single submitter Cardiovascular phenotype ⚠
  • p.Asp73Asn Single submitter Cardiovascular phenotype ⚠
  • p.Gln328= Single submitter progressive familial heart block type IB
  • p.Gln669= Single submitter Cardiovascular phenotype
  • p.Gln752Ter Single submitter Cardiovascular phenotype
  • p.Gln854Arg Single submitter long QT syndrome ⚠
  • p.Glu330Lys Single submitter Cardiovascular phenotype ⚠
  • p.Glu374= Single submitter progressive familial heart block type IB
  • p.Glu497Gly Single submitter progressive familial heart block type IB ⚠
  • p.Glu629Lys Single submitter progressive familial heart block type IB ⚠
  • p.Glu743= Single submitter progressive familial heart block type IB
  • p.Glu996fs Single submitter progressive familial heart block type IB
  • p.Gly1163= Single submitter Cardiovascular phenotype
  • p.Gly161= Single submitter progressive familial heart block type IB
  • p.Gly163Ala Single submitter Cardiovascular phenotype ⚠
  • p.Gly220Arg Single submitter Cardiovascular phenotype ⚠
  • p.Gly245= Single submitter progressive familial heart block type IB
  • p.Gly523= Single submitter Cardiovascular phenotype
  • p.Gly534Arg Single submitter Cardiovascular phenotype ⚠
  • p.Gly582Ser Single submitter Cardiovascular phenotype ⚠
  • p.Gly737Arg Single submitter Cardiovascular phenotype ⚠
  • p.Gly754Arg Single submitter Cardiovascular phenotype ⚠
  • p.Gly836= Single submitter Cardiovascular phenotype
  • p.Gly844Asp Single submitter Cardiovascular phenotype ⚠
  • p.Gly84Ser Single submitter progressive familial heart block type IB ⚠
  • p.His505Gln Single submitter Cardiovascular phenotype ⚠
  • p.His774Tyr Single submitter Cardiovascular phenotype ⚠
  • p.His889fs Single submitter progressive familial heart block type IB
  • p.Ile922= Single submitter Cardiovascular phenotype
  • p.Leu1075Pro Single submitter Cardiovascular phenotype ⚠
  • p.Leu1148Pro Single submitter Cardiovascular phenotype ⚠
  • p.Leu361Arg Single submitter Cardiovascular phenotype ⚠
  • p.Leu444= Single submitter progressive familial heart block type IB
  • p.Leu460= Single submitter Cardiovascular phenotype
  • p.Leu491= Single submitter Cardiovascular phenotype
  • p.Leu564dup Single submitter progressive familial heart block type IB
  • p.Leu595Val Single submitter progressive familial heart block type IB ⚠
  • p.Leu615= Single submitter Cardiovascular phenotype
  • p.Leu695= Single submitter Cardiovascular phenotype
  • p.Leu801= Single submitter Cardiovascular phenotype
  • p.Leu91del Single submitter progressive familial heart block type IB
  • p.Lys1154Arg Single submitter progressive familial heart block type IB ⚠
  • p.Lys487_Leu498del Single submitter Cardiovascular phenotype
  • p.Lys712= Single submitter Cardiovascular phenotype
  • p.Lys744Met Single submitter Cardiovascular phenotype ⚠
  • p.Lys914Ter Single submitter progressive familial heart block type IB
  • p.Met514Thr Single submitter progressive familial heart block type IB ⚠
  • p.Phe373Leu Single submitter Cardiovascular phenotype ⚠
  • p.Phe414= Single submitter Cardiovascular phenotype
  • p.Phe935= Single submitter Cardiovascular phenotype
  • p.Pro1101Ala Single submitter Cardiovascular phenotype ⚠
  • p.Pro1204Leu Single submitter cardiac conduction defect ⚠
  • p.Pro489Leu Single submitter progressive familial heart block type IB ⚠
  • p.Pro4Ser Single submitter Cardiovascular phenotype ⚠
  • p.Pro547Ser Single submitter Cardiovascular phenotype ⚠
  • p.Pro779Thr Single submitter Cardiovascular phenotype ⚠
  • p.Ser1102Ala Single submitter progressive familial heart block type IB ⚠
  • p.Ser1102Pro Single submitter Cardiovascular phenotype ⚠
  • p.Ser1126Trp Single submitter progressive familial heart block type IB ⚠
  • p.Ser863Gly Single submitter Cardiovascular phenotype ⚠
  • p.Ser995Leu Single submitter progressive familial heart block type IB ⚠
  • p.Thr160Met Single submitter Cardiovascular phenotype ⚠
  • p.Thr181Ile Single submitter Cardiovascular phenotype ⚠
  • p.Thr286Ala Single submitter Cardiovascular phenotype ⚠
  • p.Thr718= Single submitter progressive familial heart block type IB
  • p.Thr718Arg Single submitter Cardiovascular phenotype ⚠
  • p.Thr81Met Single submitter progressive familial heart block type IB ⚠
  • p.Thr97= Single submitter progressive familial heart block type IB
  • p.Trp525Ter Single submitter Cardiovascular phenotype
  • p.Tyr103Cys Single submitter Cardiovascular phenotype ⚠
  • p.Val1012Ile Single submitter progressive familial heart block type IB ⚠
  • p.Val1025Ile Single submitter Cardiovascular phenotype ⚠
  • p.Val106= Single submitter Cardiovascular phenotype
  • p.Val129Ile Single submitter progressive familial heart block type IB ⚠
  • p.Val57Met Single submitter Cardiovascular phenotype ⚠
  • p.Val904= Single submitter Cardiovascular phenotype
  • p.Val921Ile Single submitter Cardiovascular phenotype ⚠
  • p.Val923= Single submitter Cardiovascular phenotype
  • p.Val923Met Single submitter Cardiovascular phenotype ⚠
  • p.Val930= Single submitter progressive familial heart block type IB

Benign 76

Benign/Likely benign 27

  • c.1051-9A>G Multiple submitters progressive familial heart block type IB
  • c.1150+15C>G Multiple submitters progressive familial heart block type IB
  • c.2953+15G>A Multiple submitters progressive familial heart block type IB
  • c.3641-17T>G Multiple submitters progressive familial heart block type IB
  • c.3641-19C>G Multiple submitters erythrokeratodermia variabilis et progressiva 6
  • c.448+6C>T Multiple submitters progressive familial heart block type IB
  • c.449-10G>A Multiple submitters progressive familial heart block type IB
  • c.449-14C>T Multiple submitters progressive familial heart block type IB
  • c.613-5C>T Multiple submitters Cardiovascular phenotype
  • c.93-18C>T Multiple submitters progressive familial heart block type IB
  • p.759_762CGGR[1] Multiple submitters progressive familial heart block type IB
  • p.Ala101Thr Multiple submitters Cardiovascular phenotype
  • p.Ala114= Multiple submitters Cardiovascular phenotype
  • p.Ala312= Multiple submitters progressive familial heart block type IB
  • p.Ala56= Multiple submitters Cardiovascular phenotype
  • p.Arg108Cys Multiple submitters Cardiovascular phenotype
  • p.Asp561Ala Multiple submitters Cardiovascular phenotype
  • p.Ile978= Multiple submitters progressive familial heart block type IB
  • p.Leu1028= Multiple submitters progressive familial heart block type IB
  • p.Lys261= Multiple submitters Cardiovascular phenotype
  • p.Ser1143Gly Multiple submitters Cardiovascular phenotype
  • p.Ser206= Multiple submitters Cardiovascular phenotype
  • p.Ser388= Multiple submitters Cardiovascular phenotype
  • p.Ser481Cys Multiple submitters progressive familial heart block type IB
  • p.Thr81= Multiple submitters Cardiovascular phenotype
  • p.Thr873= Multiple submitters progressive familial heart block type IB
  • p.Val102= Multiple submitters Cardiovascular phenotype

Likely benign 681

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

  • c.1150+91C>T Multiple submitters
  • c.1608+10G>T Multiple submitters progressive familial heart block type IB
  • c.1608+25_1608+26insAGGGGGG Multiple submitters progressive familial heart block type IB
  • c.1609-10T>C Multiple submitters progressive familial heart block type IB
  • c.1609-38G>A Multiple submitters
  • c.2020-117G>T Multiple submitters
  • c.2020-18C>A Multiple submitters progressive familial heart block type IB
  • c.2020-8C>T Multiple submitters progressive familial heart block type IB
  • c.2020-9C>T Multiple submitters progressive familial heart block type IB
  • c.2132+174T>C Multiple submitters
  • c.2133-10C>T Multiple submitters progressive familial heart block type IB
  • c.2210+10G>T Multiple submitters progressive familial heart block type IB
  • c.24+7G>A Multiple submitters progressive familial heart block type IB
  • c.25-10C>T Multiple submitters progressive familial heart block type IB
  • c.2645+11C>G Multiple submitters progressive familial heart block type IB
  • c.2645+9C>A Multiple submitters progressive familial heart block type IB
  • c.2646-190A>C Multiple submitters
  • c.268-19C>T Multiple submitters progressive familial heart block type IB
  • c.2778+13C>T Multiple submitters progressive familial heart block type IB
  • c.2778+18C>G Multiple submitters progressive familial heart block type IB
  • c.2778+8del Multiple submitters progressive familial heart block type IB
  • c.2953+16G>A Multiple submitters progressive familial heart block type IB
  • c.3131+55T>G Multiple submitters
  • c.3131+72C>T Multiple submitters
  • c.3329-13C>T Multiple submitters progressive familial heart block type IB
  • c.3329-14G>C Multiple submitters progressive familial heart block type IB
  • c.3329-15C>T Multiple submitters progressive familial heart block type IB
  • c.3329-99G>A Multiple submitters
  • c.449-11C>T Multiple submitters progressive familial heart block type IB
  • c.613-39C>T Multiple submitters
  • c.796+11G>A Multiple submitters progressive familial heart block type IB
  • c.796+16C>G Multiple submitters progressive familial heart block type IB
  • c.797-4T>A Multiple submitters Cardiovascular phenotype
  • c.858+51A>G Multiple submitters
  • c.92+12G>C Multiple submitters progressive familial heart block type IB
  • c.92+17T>C Multiple submitters progressive familial heart block type IB
  • c.93-4C>A Multiple submitters Cardiovascular phenotype
  • c.*80C>T Multiple submitters
  • p.Ala1060= Multiple submitters progressive familial heart block type IB
  • p.Ala1105= Multiple submitters progressive familial heart block type IB
  • p.Ala1190= Multiple submitters Cardiovascular phenotype
  • p.Ala308= Multiple submitters Cardiovascular phenotype
  • p.Ala384= Multiple submitters Cardiovascular phenotype
  • p.Ala467= Multiple submitters progressive familial heart block type IB
  • p.Ala48= Multiple submitters Cardiovascular phenotype
  • p.Ala488= Multiple submitters Cardiovascular phenotype
  • p.Ala490= Multiple submitters Cardiovascular phenotype
  • p.Ala55= Multiple submitters Cardiovascular phenotype
  • p.Ala616= Multiple submitters progressive familial heart block type IB
  • p.Ala685= Multiple submitters progressive familial heart block type IB
  • p.Ala739= Multiple submitters progressive familial heart block type IB
  • p.Ala83= Multiple submitters progressive familial heart block type IB
  • p.Ala861= Multiple submitters progressive familial heart block type IB
  • p.Arg1184= Multiple submitters Cardiovascular phenotype
  • p.Arg214= Multiple submitters Cardiovascular phenotype
  • p.Arg405= Multiple submitters progressive familial heart block type IB
  • p.Arg518Gly Multiple submitters Cardiovascular phenotype
  • p.Arg601= Multiple submitters Cardiovascular phenotype
  • p.Arg719Gln Multiple submitters Cardiovascular phenotype
  • p.Arg965= Multiple submitters progressive familial heart block type IB
  • p.Asn202= Multiple submitters progressive familial heart block type IB
  • p.Asn404= Multiple submitters Cardiovascular phenotype
  • p.Asp1139= Multiple submitters Cardiovascular phenotype
  • p.Asp1208= Multiple submitters Cardiovascular phenotype
  • p.Asp136= Multiple submitters Cardiovascular phenotype
  • p.Asp198= Multiple submitters Cardiovascular phenotype
  • p.Asp236= Multiple submitters Cardiovascular phenotype
  • p.Asp237= Multiple submitters progressive familial heart block type IB
  • p.Asp431= Multiple submitters Cardiovascular phenotype
  • p.Asp651= Multiple submitters Cardiovascular phenotype
  • p.Asp662= Multiple submitters progressive familial heart block type IB
  • p.Asp929= Multiple submitters Cardiovascular phenotype
  • p.Cys1011= Multiple submitters Cardiovascular phenotype
  • p.Cys242= Multiple submitters Cardiovascular phenotype
  • p.Gln135= Multiple submitters Cardiovascular phenotype
  • p.Gln293Arg Multiple submitters progressive familial heart block type IB
  • p.Gln295His Multiple submitters progressive familial heart block type IB
  • p.Gln462= Multiple submitters progressive familial heart block type IB
  • p.Gln854= Multiple submitters Cardiovascular phenotype
  • p.Glu1146= Multiple submitters Cardiovascular phenotype
  • p.Glu282= Multiple submitters Cardiovascular phenotype
  • p.Glu389= Multiple submitters progressive familial heart block type IB
  • p.Gly241= Multiple submitters Cardiovascular phenotype
  • p.Gly329= Multiple submitters Cardiovascular phenotype
  • p.Gly452= Multiple submitters progressive familial heart block type IB
  • p.Gly504= Multiple submitters Cardiovascular phenotype
  • p.Gly555= Multiple submitters Cardiovascular phenotype
  • p.Gly623= Multiple submitters Cardiovascular phenotype
  • p.Gly628= Multiple submitters Cardiovascular phenotype
  • p.Gly650= Multiple submitters progressive familial heart block type IB
  • p.Gly760= Multiple submitters Cardiovascular phenotype
  • p.Gly765= Multiple submitters Cardiovascular phenotype
  • p.Gly843= Multiple submitters progressive familial heart block type IB
  • p.Gly844= Multiple submitters Cardiovascular phenotype
  • p.Gly938= Multiple submitters Cardiovascular phenotype
  • p.His240= Multiple submitters Cardiovascular phenotype
  • p.His424= Multiple submitters Cardiovascular phenotype
  • p.His66= Multiple submitters progressive familial heart block type IB
  • p.Ile162= Multiple submitters Cardiovascular phenotype
  • p.Leu1075= Multiple submitters Cardiovascular phenotype
  • p.Leu1085= Multiple submitters Cardiovascular phenotype
  • p.Leu1122= Multiple submitters Cardiovascular phenotype
  • p.Leu1186= Multiple submitters Cardiovascular phenotype
  • p.Leu1209= Multiple submitters Cardiovascular phenotype
  • p.Leu122= Multiple submitters progressive familial heart block type IB
  • p.Leu200= Multiple submitters progressive familial heart block type IB
  • p.Leu243= Multiple submitters Cardiovascular phenotype
  • p.Leu300= Multiple submitters Cardiovascular phenotype
  • p.Leu319_Ala320delinsPro Multiple submitters Cardiovascular phenotype
  • p.Leu34= Multiple submitters Cardiovascular phenotype
  • p.Leu425= Multiple submitters progressive familial heart block type IB
  • p.Leu434= Multiple submitters progressive familial heart block type IB
  • p.Leu451= Multiple submitters Cardiovascular phenotype
  • p.Leu498= Multiple submitters Cardiovascular phenotype
  • p.Leu540= Multiple submitters Cardiovascular phenotype
  • p.Leu792= Multiple submitters progressive familial heart block type IB
  • p.Leu816= Multiple submitters progressive familial heart block type IB
  • p.Leu824= Multiple submitters Cardiovascular phenotype
  • p.Leu840= Multiple submitters Cardiovascular phenotype
  • p.Leu869= Multiple submitters Cardiovascular phenotype
  • p.Leu877= Multiple submitters progressive familial heart block type IB
  • p.Leu937= Multiple submitters Cardiovascular phenotype
  • p.Leu951= Multiple submitters Cardiovascular phenotype
  • p.Leu963= Multiple submitters Cardiovascular phenotype
  • p.Leu972= Multiple submitters Cardiovascular phenotype
  • p.Lys6= Multiple submitters Cardiovascular phenotype
  • p.Lys919= Multiple submitters progressive familial heart block type IB
  • p.Phe440= Multiple submitters progressive familial heart block type IB
  • p.Phe53= Multiple submitters Cardiovascular phenotype
  • p.Phe627= Multiple submitters Cardiovascular phenotype
  • p.Phe773= Multiple submitters Cardiovascular phenotype
  • p.Phe80= Multiple submitters progressive familial heart block type IB
  • p.Phe902= Multiple submitters progressive familial heart block type IB
  • p.Pro1004= Multiple submitters Cardiovascular phenotype
  • p.Pro1096= Multiple submitters progressive familial heart block type IB
  • p.Pro115= Multiple submitters progressive familial heart block type IB
  • p.Pro1210= Multiple submitters Cardiovascular phenotype
  • p.Pro128= Multiple submitters progressive familial heart block type IB
  • p.Pro217= Multiple submitters Cardiovascular phenotype
  • p.Pro500= Multiple submitters Cardiovascular phenotype
  • p.Pro547= Multiple submitters Cardiovascular phenotype
  • p.Pro700Thr Multiple submitters Cardiovascular phenotype ⚠
  • p.Pro735= Multiple submitters erythrokeratodermia variabilis et progressiva 6
  • p.Pro750= Multiple submitters progressive familial heart block type IB
  • p.Pro750Leu Multiple submitters Cardiovascular phenotype
  • p.Pro756= Multiple submitters Cardiovascular phenotype
  • p.Pro779= Multiple submitters Cardiovascular phenotype
  • p.Pro807= Multiple submitters Cardiovascular phenotype
  • p.Pro845Leu Multiple submitters Cardiovascular phenotype
  • p.Pro885= Multiple submitters Cardiovascular phenotype
  • p.Pro918= Multiple submitters Cardiovascular phenotype
  • p.Pro979= Multiple submitters progressive familial heart block type IB
  • p.Pro997= Multiple submitters Cardiovascular phenotype
  • p.Ser1013= Multiple submitters progressive familial heart block type IB
  • p.Ser1098= Multiple submitters progressive familial heart block type IB
  • p.Ser125= Multiple submitters progressive familial heart block type IB
  • p.Ser230= Multiple submitters Cardiovascular phenotype
  • p.Ser27= Multiple submitters Cardiovascular phenotype
  • p.Ser546= Multiple submitters progressive familial heart block type IB
  • p.Ser63= Multiple submitters progressive familial heart block type IB
  • p.Ser812= Multiple submitters Cardiovascular phenotype
  • p.Ser834Arg Multiple submitters progressive familial heart block type IB
  • p.Ser995= Multiple submitters progressive familial heart block type IB
  • p.Ter1215= Multiple submitters progressive familial heart block type IB
  • p.Thr1151= Multiple submitters progressive familial heart block type IB
  • p.Thr160= Multiple submitters Cardiovascular phenotype
  • p.Thr178= Multiple submitters progressive familial heart block type IB
  • p.Thr199= Multiple submitters progressive familial heart block type IB
  • p.Thr262= Multiple submitters Cardiovascular phenotype
  • p.Thr33= Multiple submitters Cardiovascular phenotype
  • p.Thr362= Multiple submitters progressive familial heart block type IB
  • p.Thr456= Multiple submitters progressive familial heart block type IB
  • p.Thr72= Multiple submitters Cardiovascular phenotype
  • p.Thr738= Multiple submitters Cardiovascular phenotype
  • p.Thr911= Multiple submitters Cardiovascular phenotype
  • p.Thr948= Multiple submitters progressive familial heart block type IB
  • p.Tyr1057= Multiple submitters Cardiovascular phenotype
  • p.Tyr229= Multiple submitters progressive familial heart block type IB
  • p.Tyr631= Multiple submitters erythrokeratodermia variabilis et progressiva 6
  • p.Tyr704= Multiple submitters Cardiovascular phenotype
  • p.Val1081= Multiple submitters Cardiovascular phenotype
  • p.Val1155= Multiple submitters Cardiovascular phenotype
  • p.Val119= Multiple submitters Cardiovascular phenotype
  • p.Val166= Multiple submitters Cardiovascular phenotype
  • p.Val194= Multiple submitters progressive familial heart block type IB
  • p.Val264= Multiple submitters Cardiovascular phenotype
  • p.Val441= Multiple submitters Cardiovascular phenotype
  • p.Val586= Multiple submitters Cardiovascular phenotype
  • p.Val787= Multiple submitters progressive familial heart block type IB
  • p.Val946= Multiple submitters Cardiovascular phenotype
  • p.Val966= Multiple submitters Cardiovascular phenotype
  • c.1050+10T>A Single submitter progressive familial heart block type IB
  • c.1050+11G>C Single submitter progressive familial heart block type IB
  • c.1050+15G>C Single submitter progressive familial heart block type IB
  • c.1050+15G>T Single submitter progressive familial heart block type IB
  • c.1050+16_1050+17insTGGC Single submitter progressive familial heart block type IB
  • c.1050+18C>T Single submitter progressive familial heart block type IB
  • c.1050+7C>A Single submitter progressive familial heart block type IB
  • c.1051-11C>G Single submitter progressive familial heart block type IB
  • c.1051-12G>A Single submitter progressive familial heart block type IB
  • c.1051-14del Single submitter progressive familial heart block type IB
  • c.1051-15C>A Single submitter progressive familial heart block type IB
  • c.1051-15C>T Single submitter progressive familial heart block type IB
  • c.1051-18G>A Single submitter progressive familial heart block type IB
  • c.1051-18G>C Single submitter progressive familial heart block type IB
  • c.1051-6C>T Single submitter progressive familial heart block type IB
  • c.1051-8T>C Single submitter progressive familial heart block type IB
  • c.1150+13C>A Single submitter progressive familial heart block type IB
  • c.1150+15C>T Single submitter progressive familial heart block type IB
  • c.1150+7G>C Single submitter progressive familial heart block type IB
  • c.1150+9T>A Single submitter progressive familial heart block type IB
  • c.1150+9T>G Single submitter progressive familial heart block type IB
  • c.1151-13C>T Single submitter progressive familial heart block type IB
  • c.1151-338A>G Single submitter
  • c.1263+17T>C Single submitter progressive familial heart block type IB
  • c.1263+19G>T Single submitter progressive familial heart block type IB
  • c.1263+20G>T Single submitter progressive familial heart block type IB
  • c.1263+216G>A Single submitter
  • c.1263+86_1263+90dup Single submitter
  • c.1263+87_1263+90dup Single submitter
  • c.1263+90dup Single submitter
  • c.1264-126CCAT[10] Single submitter
  • c.1264-126CCAT[13] Single submitter
  • c.1264-126CCAT[14] Single submitter
  • c.1264-126CCAT[9] Single submitter
  • c.1264-141CATC[2] Single submitter
  • c.1264-141CATC[4] Single submitter
  • c.1264-19A>C Single submitter progressive familial heart block type IB
  • c.1264-19A>G Single submitter progressive familial heart block type IB
  • c.1264-20T>C Single submitter progressive familial heart block type IB
  • c.1264-223TCCA[11] Single submitter
  • c.1264-323TCCA[5] Single submitter
  • c.1264-330_1264-329insTGTCCATC Single submitter
  • c.1608+10G>A Single submitter progressive familial heart block type IB
  • c.1608+11G>A Single submitter progressive familial heart block type IB
  • c.1608+12G>A Single submitter progressive familial heart block type IB
  • c.1609-12T>G Single submitter progressive familial heart block type IB
  • c.1609-13C>G Single submitter progressive familial heart block type IB
  • c.1609-14C>A Single submitter progressive familial heart block type IB
  • c.1609-14C>T Single submitter progressive familial heart block type IB
  • c.1609-15dup Single submitter progressive familial heart block type IB
  • c.1609-16C>T Single submitter progressive familial heart block type IB
  • c.1609-18C>T Single submitter progressive familial heart block type IB
  • c.1609-20A>T Single submitter progressive familial heart block type IB
  • c.1743+13T>G Single submitter progressive familial heart block type IB
  • c.1743+17C>T Single submitter progressive familial heart block type IB
  • c.1743+19C>G Single submitter progressive familial heart block type IB
  • c.1743+19C>T Single submitter progressive familial heart block type IB
  • c.1743+20T>C Single submitter progressive familial heart block type IB
  • c.1743+224G>A Single submitter
  • c.1743+246G>T Single submitter
  • c.1744-14C>G Single submitter progressive familial heart block type IB
  • c.1744-14C>T Single submitter progressive familial heart block type IB
  • c.1873+10G>T Single submitter progressive familial heart block type IB
  • c.1873+14G>A Single submitter progressive familial heart block type IB
  • c.1873+17G>A Single submitter progressive familial heart block type IB
  • c.1873+17G>T Single submitter progressive familial heart block type IB
  • c.1873+18C>T Single submitter progressive familial heart block type IB
  • c.1874-10T>C Single submitter progressive familial heart block type IB
  • c.1874-11C>A Single submitter progressive familial heart block type IB
  • c.1874-14C>T Single submitter
  • c.1874-20A>G Single submitter progressive familial heart block type IB
  • c.1874-6C>T Single submitter progressive familial heart block type IB
  • c.1874-7G>A Single submitter progressive familial heart block type IB
  • c.1874-9C>A Single submitter progressive familial heart block type IB
  • c.2019+11G>C Single submitter progressive familial heart block type IB
  • c.2019+12C>T Single submitter progressive familial heart block type IB
  • c.2019+19A>G Single submitter progressive familial heart block type IB
  • c.2019+20A>G Single submitter progressive familial heart block type IB
  • c.2020-10C>T Single submitter progressive familial heart block type IB
  • c.2020-13C>T Single submitter progressive familial heart block type IB
  • c.2020-14C>T Single submitter progressive familial heart block type IB
  • c.2020-18C>T Single submitter progressive familial heart block type IB
  • c.2020-5C>G Single submitter progressive familial heart block type IB
  • c.2020-7C>A Single submitter progressive familial heart block type IB
  • c.2132+10C>G Single submitter
  • c.2132+17G>A Single submitter progressive familial heart block type IB
  • c.2132+19G>T Single submitter progressive familial heart block type IB
  • c.2132+9C>A Single submitter progressive familial heart block type IB
  • c.2133-11C>G Single submitter progressive familial heart block type IB
  • c.2133-19G>A Single submitter progressive familial heart block type IB
  • c.2133-5G>T Single submitter progressive familial heart block type IB
  • c.2133-8C>A Single submitter progressive familial heart block type IB
  • c.2133-8C>T Single submitter progressive familial heart block type IB
  • c.2210+13T>C Single submitter progressive familial heart block type IB
  • c.2210+16A>T Single submitter progressive familial heart block type IB
  • c.2210+9A>C Single submitter
  • c.2211-11T>C Single submitter progressive familial heart block type IB
  • c.2211-11T>G Single submitter progressive familial heart block type IB
  • c.2211-14C>G Single submitter progressive familial heart block type IB
  • c.2211-19C>G Single submitter progressive familial heart block type IB
  • c.2211-6C>T Single submitter progressive familial heart block type IB
  • c.2211-8C>T Single submitter progressive familial heart block type IB
  • c.24+10G>A Single submitter progressive familial heart block type IB
  • c.24+10G>C Single submitter progressive familial heart block type IB
  • c.24+15A>G Single submitter progressive familial heart block type IB
  • c.24+16G>A Single submitter progressive familial heart block type IB
  • c.24+17G>C Single submitter progressive familial heart block type IB
  • c.25-13T>C Single submitter progressive familial heart block type IB
  • c.25-14G>T Single submitter progressive familial heart block type IB

Uncertain significance 1242

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

  • c.1050+1G>A Multiple submitters Cardiovascular phenotype
  • c.1150+5A>T Multiple submitters Cardiovascular phenotype
  • c.1150+6A>G Multiple submitters progressive familial heart block type IB
  • c.1263+1G>A Multiple submitters progressive familial heart block type IB
  • c.1263+2T>G Multiple submitters erythrokeratodermia variabilis et progressiva 6
  • c.1606_1608+1dup Multiple submitters progressive familial heart block type IB
  • c.1608+1G>C Multiple submitters progressive familial heart block type IB
  • c.1873+3G>T Multiple submitters progressive familial heart block type IB
  • c.2019+5G>A Multiple submitters Cardiovascular phenotype
  • c.2132+5G>T Multiple submitters progressive familial heart block type IB
  • c.2645+1G>A Multiple submitters Cardiovascular phenotype
  • c.2646-2A>T Multiple submitters progressive familial heart block type IB
  • c.268-1G>A Multiple submitters progressive familial heart block type IB
  • c.2778+1G>A Multiple submitters progressive familial heart block type IB
  • c.2953+1G>A Multiple submitters Cardiovascular phenotype
  • c.2953+5G>A Multiple submitters Cardiovascular phenotype
  • c.2953+5G>C Multiple submitters progressive familial heart block type IB
  • c.3132-1G>A Multiple submitters
  • c.3328+2T>C Multiple submitters progressive familial heart block type IB
  • c.3329-2A>G Multiple submitters progressive familial heart block type IB
  • c.612+1G>A Multiple submitters progressive familial heart block type IB
  • c.*119C>T Multiple submitters progressive familial heart block type IB
  • c.*316G>A Multiple submitters progressive familial heart block type IB
  • p.Ala1001Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala1006fs Multiple submitters Cardiovascular phenotype
  • p.Ala1008Glu Multiple submitters progressive familial heart block type IB ⚠
  • p.Ala100Asp Multiple submitters progressive familial heart block type IB ⚠
  • p.Ala100Ser Multiple submitters progressive familial heart block type IB ⚠
  • p.Ala1074fs Multiple submitters Cardiovascular phenotype
  • p.Ala1074Val Multiple submitters progressive familial heart block type IB ⚠
  • p.Ala1076Thr Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala1105Val Multiple submitters progressive familial heart block type IB ⚠
  • p.Ala1135Pro Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala1137Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala1158Val Multiple submitters progressive familial heart block type IB ⚠
  • p.Ala1190Thr Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala1192Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala145Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala145Val Multiple submitters progressive familial heart block type IB ⚠
  • p.Ala169Thr Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala209Val Multiple submitters progressive familial heart block type IB ⚠
  • p.Ala291Thr Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala307Val Multiple submitters progressive familial heart block type IB ⚠
  • p.Ala308Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala312Val Multiple submitters progressive familial heart block type IB ⚠
  • p.Ala380Thr Multiple submitters Cardiovascular phenotype
  • p.Ala380Val Multiple submitters erythrokeratodermia variabilis et progressiva 6 ⚠
  • p.Ala390Gly Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala43Thr Multiple submitters progressive familial heart block type IB ⚠
  • p.Ala466Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala467Gly Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala46Thr Multiple submitters progressive familial heart block type IB ⚠
  • p.Ala496Gly Multiple submitters progressive familial heart block type IB ⚠
  • p.Ala524Pro Multiple submitters progressive familial heart block type IB ⚠
  • p.Ala52Gly Multiple submitters progressive familial heart block type IB ⚠
  • p.Ala544Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala552Gly Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala552Thr Multiple submitters progressive familial heart block type IB ⚠
  • p.Ala566Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala572Glu Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala592Thr Multiple submitters progressive familial heart block type IB ⚠
  • p.Ala592Val Multiple submitters Cardiovascular phenotype
  • p.Ala606Gly Multiple submitters erythrokeratodermia variabilis et progressiva 6 ⚠
  • p.Ala609Gly Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala652Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala663Thr Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala665fs Multiple submitters Cardiovascular phenotype
  • p.Ala685Thr Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala696Thr Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala739Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala778Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala778Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala83fs Multiple submitters Cardiovascular phenotype
  • p.Ala83Gly Multiple submitters progressive familial heart block type IB ⚠
  • p.Ala83Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala943Thr Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala947Asp Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala986Thr Multiple submitters progressive familial heart block type IB ⚠
  • p.Arg1062Gly Multiple submitters erythrokeratodermia variabilis et progressiva 6 ⚠
  • p.Arg1062Ser Multiple submitters progressive familial heart block type IB ⚠
  • p.Arg1064Gly Multiple submitters progressive familial heart block type IB ⚠
  • p.Arg1064His Multiple submitters progressive familial heart block type IB ⚠
  • p.Arg1067Leu Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg1067Trp Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg1072Gln Multiple submitters progressive familial heart block type IB
  • p.Arg108His Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg113Cys Multiple submitters progressive familial heart block type IB ⚠
  • p.Arg1141Gln Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg1147His Multiple submitters progressive familial heart block type IB ⚠
  • p.Arg1150Leu Multiple submitters progressive familial heart block type IB ⚠
  • p.Arg1171Cys Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg1171His Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg1171Leu Multiple submitters progressive familial heart block type IB ⚠
  • p.Arg1171Pro Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg1184Cys Multiple submitters progressive familial heart block type IB ⚠
  • p.Arg1184Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg1195Cys Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg139Cys Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg139His Multiple submitters erythrokeratodermia variabilis et progressiva 6 ⚠
  • p.Arg140Cys Multiple submitters progressive familial heart block type IB ⚠
  • p.Arg140His Multiple submitters progressive familial heart block type IB ⚠
  • p.Arg144Gln Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg144Trp Multiple submitters progressive familial heart block type IB ⚠
  • p.Arg164Gln Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg171Gln Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg195Gln Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg214Cys Multiple submitters progressive familial heart block type IB ⚠
  • p.Arg250His Multiple submitters progressive familial heart block type IB ⚠
  • p.Arg287Leu Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg287Ter Multiple submitters Cardiovascular phenotype
  • p.Arg332Ter Multiple submitters erythrokeratodermia variabilis et progressiva 6
  • p.Arg334Ter Multiple submitters progressive familial heart block type IB
  • p.Arg336Gly Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg337His Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg337Ser Multiple submitters progressive familial heart block type IB ⚠
  • p.Arg357Trp Multiple submitters progressive familial heart block type IB ⚠
  • p.Arg398Cys Multiple submitters progressive familial heart block type IB ⚠
  • p.Arg405His Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg405Pro Multiple submitters progressive familial heart block type IB ⚠
  • p.Arg415Gln Multiple submitters progressive familial heart block type IB ⚠
  • p.Arg415Trp Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg41Trp Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg421Trp Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg437Trp Multiple submitters progressive familial heart block type IB ⚠
  • p.Arg442His Multiple submitters progressive familial heart block type IB ⚠
  • p.Arg474His Multiple submitters progressive familial heart block type IB ⚠
  • p.Arg499_Asp502del Multiple submitters erythrokeratodermia variabilis et progressiva 6
  • p.Arg499Trp Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg597Trp Multiple submitters progressive familial heart block type IB
  • p.Arg601His Multiple submitters progressive familial heart block type IB ⚠
  • p.Arg601Leu Multiple submitters progressive familial heart block type IB ⚠
  • p.Arg611Trp Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg632Cys Multiple submitters progressive familial heart block type IB ⚠
  • p.Arg632Gly Multiple submitters progressive familial heart block type IB ⚠
  • p.Arg640Cys Multiple submitters progressive familial heart block type IB ⚠
  • p.Arg640His Multiple submitters progressive familial heart block type IB ⚠
  • p.Arg644His Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg645Cys Multiple submitters progressive familial heart block type IB ⚠
  • p.Arg645His Multiple submitters progressive familial heart block type IB ⚠
  • p.Arg664His Multiple submitters progressive familial heart block type IB ⚠
  • p.Arg664Leu Multiple submitters Cardiovascular phenotype
  • p.Arg706His Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg719Trp Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg755Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg766fs Multiple submitters Cardiovascular phenotype
  • p.Arg767Gln Multiple submitters progressive familial heart block type IB ⚠
  • p.Arg770Leu Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg771Cys Multiple submitters progressive familial heart block type IB ⚠
  • p.Arg855Cys Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg855Leu Multiple submitters progressive familial heart block type IB ⚠
  • p.Arg892His Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg905Gln Multiple submitters progressive familial heart block type IB ⚠
  • p.Arg905Trp Multiple submitters progressive familial heart block type IB ⚠
  • p.Arg92Trp Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg953Lys Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg955Trp Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg964His Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg964Ser Multiple submitters progressive familial heart block type IB ⚠
  • p.Arg965His Multiple submitters progressive familial heart block type IB ⚠
  • p.Arg969His Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg96Gln Multiple submitters Cardiovascular phenotype ⚠
  • p.Asn1017Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Asn1131Lys Multiple submitters Cardiovascular phenotype ⚠
  • p.Asn196Lys Multiple submitters progressive familial heart block type IB ⚠
  • p.Asn404Lys Multiple submitters progressive familial heart block type IB ⚠
  • p.Asn470Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Asn584Ser Multiple submitters progressive familial heart block type IB ⚠
  • p.Asn913Ser Multiple submitters progressive familial heart block type IB ⚠
  • p.Asp226Glu Multiple submitters progressive familial heart block type IB ⚠
  • p.Asp236Gly Multiple submitters progressive familial heart block type IB ⚠
  • p.Asp317Gly Multiple submitters Cardiovascular phenotype ⚠
  • p.Asp333Tyr Multiple submitters progressive familial heart block type IB ⚠
  • p.Asp368Gly Multiple submitters progressive familial heart block type IB ⚠
  • p.Asp417Asn Multiple submitters progressive familial heart block type IB ⚠
  • p.Asp417fs Multiple submitters Cardiovascular phenotype
  • p.Asp436Glu Multiple submitters progressive familial heart block type IB ⚠
  • p.Asp561Glu Multiple submitters Cardiovascular phenotype ⚠
  • p.Asp614Tyr Multiple submitters Cardiovascular phenotype ⚠
  • p.Asp62Asn Multiple submitters Cardiovascular phenotype ⚠
  • p.Asp79Gly Multiple submitters progressive familial heart block type IB ⚠
  • p.Asp929Asn Multiple submitters erythrokeratodermia variabilis et progressiva 6 ⚠
  • p.Asp982Asn Multiple submitters Cardiovascular phenotype ⚠
  • p.Asp98Glu Multiple submitters Cardiovascular phenotype ⚠
  • p.Cys1011fs Multiple submitters progressive familial heart block type IB
  • p.Cys1182Tyr Multiple submitters Cardiovascular phenotype ⚠
  • p.Cys20Ser Multiple submitters progressive familial heart block type IB ⚠
  • p.Cys298Tyr Multiple submitters progressive familial heart block type IB ⚠
  • p.Cys758Trp Multiple submitters progressive familial heart block type IB ⚠
  • p.Cys759Gly Multiple submitters Cardiovascular phenotype ⚠
  • p.Cys763Trp Multiple submitters long QT syndrome ⚠
  • p.Cys826Ter Multiple submitters progressive familial heart block type IB
  • p.Cys993Phe Multiple submitters Cardiovascular phenotype ⚠
  • p.Gln147Glu Multiple submitters Cardiovascular phenotype ⚠
  • p.Gln259Arg Multiple submitters progressive familial heart block type IB ⚠
  • p.Gln350= Multiple submitters erythrokeratodermia variabilis et progressiva 6
  • p.Gln8= Multiple submitters erythrokeratodermia variabilis et progressiva 6
  • p.Gln8Leu Multiple submitters progressive familial heart block type IB ⚠
  • p.Glu1118Ter Multiple submitters Cardiovascular phenotype
  • p.Glu1130Gly Multiple submitters Cardiovascular phenotype ⚠
  • p.Glu1169Ala Multiple submitters progressive familial heart block type IB ⚠
  • p.Glu218Gln Multiple submitters Cardiovascular phenotype ⚠
  • p.Glu246Lys Multiple submitters Cardiovascular phenotype ⚠
  • p.Glu289Lys Multiple submitters progressive familial heart block type IB ⚠
  • p.Glu345Asp Multiple submitters Cardiovascular phenotype ⚠
  • p.Glu374Lys Multiple submitters Cardiovascular phenotype ⚠
  • p.Glu535Lys Multiple submitters progressive familial heart block type IB ⚠
  • p.Glu535Ter Multiple submitters progressive familial heart block type IB
  • p.Glu5Gln Multiple submitters progressive familial heart block type IB ⚠
  • p.Glu5Lys Multiple submitters progressive familial heart block type IB ⚠
  • p.Glu608Lys Multiple submitters Cardiovascular phenotype ⚠
  • p.Glu69Gly Multiple submitters Inborn genetic diseases
  • p.Glu716Asp Multiple submitters Cardiovascular phenotype ⚠
  • p.Glu723Gln Multiple submitters progressive familial heart block type IB ⚠
  • p.Glu733Gly Multiple submitters Cardiovascular phenotype ⚠
  • p.Glu743Gln Multiple submitters Cardiovascular phenotype ⚠
  • p.Glu827Lys Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly1009Asp Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly1203Arg Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly124Ala Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly126Ala Multiple submitters progressive familial heart block type IB ⚠
  • p.Gly127fs Multiple submitters progressive familial heart block type IB
  • p.Gly141Trp Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly163Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly167Val Multiple submitters progressive familial heart block type IB ⚠
  • p.Gly192Asp Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly215Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly238Ser Multiple submitters Cardiovascular phenotype
  • p.Gly241Ser Multiple submitters progressive familial heart block type IB ⚠
  • p.Gly241Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly244Arg Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly245Asp Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly306Arg Multiple submitters progressive familial heart block type IB
  • p.Gly322Glu Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly324Trp Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly485Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly493Arg Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly494Arg Multiple submitters progressive familial heart block type IB ⚠
  • p.Gly591Arg Multiple submitters progressive familial heart block type IB ⚠
  • p.Gly732Arg Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly777Asp Multiple submitters progressive familial heart block type IB ⚠
  • p.Gly811Ala Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly832Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly837Ala Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly838Asp Multiple submitters progressive familial heart block type IB ⚠
  • p.Gly838fs Multiple submitters Cardiovascular phenotype
  • p.Gly838Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly838Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly844Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly846Trp Multiple submitters progressive familial heart block type IB ⚠
  • p.Gly848Arg Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly880Ser Multiple submitters progressive familial heart block type IB ⚠
  • p.Gly917Arg Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly950Arg Multiple submitters progressive familial heart block type IB ⚠
  • p.Gly976Arg Multiple submitters progressive familial heart block type IB ⚠
  • p.Gly998Ser Multiple submitters erythrokeratodermia variabilis et progressiva 6 ⚠
  • p.His1002Tyr Multiple submitters Cardiovascular phenotype ⚠
  • p.His1084Gln Multiple submitters progressive familial heart block type IB ⚠
  • p.His1128Arg Multiple submitters progressive familial heart block type IB ⚠
  • p.His1128Pro Multiple submitters Cardiovascular phenotype ⚠
  • p.His159Tyr Multiple submitters Cardiovascular phenotype ⚠
  • p.His505Arg Multiple submitters Cardiovascular phenotype ⚠
  • p.His849Arg Multiple submitters progressive familial heart block type IB ⚠
  • p.His849Pro Multiple submitters progressive familial heart block type IB ⚠
  • p.Ile1026Leu Multiple submitters progressive familial heart block type IB ⚠
  • p.Ile1082Met Multiple submitters Cardiovascular phenotype ⚠
  • p.Ile11Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Ile335Val Multiple submitters erythrokeratodermia variabilis et progressiva 6 ⚠
  • p.Ile418Met Multiple submitters Cardiovascular phenotype ⚠
  • p.Ile473Thr Multiple submitters Cardiovascular phenotype ⚠
  • p.Ile708Thr Multiple submitters Cardiovascular phenotype ⚠
  • p.Ile897Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Ile922Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Ile978Val Multiple submitters progressive familial heart block type IB ⚠
  • p.Leu1022Pro Multiple submitters progressive familial heart block type IB ⚠
  • p.Leu1028Pro Multiple submitters Cardiovascular phenotype ⚠
  • p.Leu1075Arg Multiple submitters Cardiovascular phenotype ⚠
  • p.Leu1087Pro Multiple submitters Cardiovascular phenotype ⚠
  • p.Leu1092Phe Multiple submitters progressive familial heart block type IB ⚠
  • p.Leu1113Val Multiple submitters long QT syndrome ⚠
  • p.Leu1121Arg Multiple submitters Cardiovascular phenotype ⚠
  • p.Leu1186Gln Multiple submitters Cardiovascular phenotype
  • p.Leu1199Pro Multiple submitters Cardiovascular phenotype ⚠
  • p.Leu1209Ter Multiple submitters progressive familial heart block type IB
  • p.Leu275Phe Multiple submitters Cardiovascular phenotype ⚠
  • p.Leu381Phe Multiple submitters Cardiovascular phenotype ⚠
  • p.Leu381Pro Multiple submitters Cardiovascular phenotype ⚠
  • p.Leu394Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Leu399fs Multiple submitters progressive familial heart block type IB
  • p.Leu433Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Leu444Pro Multiple submitters progressive familial heart block type IB ⚠
  • p.Leu511Gln Multiple submitters progressive familial heart block type IB ⚠
  • p.Leu564Phe Multiple submitters Cardiovascular phenotype ⚠
  • p.Leu596Pro Multiple submitters hypertrophic cardiomyopathy ⚠
  • p.Leu626Phe Multiple submitters progressive familial heart block type IB
  • p.Leu657Met Multiple submitters Cardiovascular phenotype ⚠
  • p.Leu792Gln Multiple submitters progressive familial heart block type IB ⚠
  • p.Leu792Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Leu796Pro Multiple submitters progressive familial heart block type IB ⚠
  • p.Leu802Phe Multiple submitters progressive familial heart block type IB
  • p.Leu816Met Multiple submitters Cardiovascular phenotype ⚠