ARVCF — 298 ClinVar variants
All ClinVar germline ARVCF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 205 flagged for review →
1 Conflicting · 57 Benign · 2 Benign/Likely benign · 20 Likely benign · 218 Uncertain significance
Full ARVCF gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 205
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 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 163
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 163
- ARVCF p.Gly172Ser Uncertain significance Multiple submitters
- ARVCF p.Val958Ile Uncertain significance Multiple submitters
- ARVCF p.Ala235Asp Uncertain significance Single submitter
- ARVCF p.Ala29Val Uncertain significance Single submitter
- ARVCF p.Ala312Val Uncertain significance Single submitter
- ARVCF p.Ala323Val Uncertain significance Single submitter
- ARVCF p.Ala349Thr Uncertain significance Single submitter
- ARVCF p.Ala420Asp Uncertain significance Single submitter
- ARVCF p.Ala437Thr Uncertain significance Single submitter
- ARVCF p.Ala513Val Uncertain significance Single submitter
- ARVCF p.Ala603Val Uncertain significance Single submitter
- ARVCF p.Ala800Ser Uncertain significance Single submitter
- ARVCF p.Ala805Thr Uncertain significance Single submitter
- ARVCF p.Ala819Gly Uncertain significance Single submitter
- ARVCF p.Ala852Gly Uncertain significance Single submitter
- ARVCF p.Ala943Ser Uncertain significance Single submitter
- ARVCF p.Ala949Val Uncertain significance Single submitter
- ARVCF p.Arg118Gln Uncertain significance Single submitter
- ARVCF p.Arg119His Uncertain significance Single submitter
- ARVCF p.Arg165Gln Uncertain significance Single submitter
- ARVCF p.Arg180Gln Uncertain significance Single submitter
- ARVCF p.Arg196Trp Uncertain significance Single submitter
- ARVCF p.Arg211Gln Uncertain significance Single submitter
- ARVCF p.Arg211Trp Uncertain significance Single submitter
- ARVCF p.Arg214Cys Uncertain significance Single submitter
- ARVCF p.Arg214His Uncertain significance Single submitter
- ARVCF p.Arg22Cys Uncertain significance Single submitter
- ARVCF p.Arg22His Uncertain significance Single submitter
- ARVCF p.Arg233Gln Uncertain significance Single submitter
- ARVCF p.Arg248Cys Uncertain significance Single submitter
- ARVCF p.Arg253His Uncertain significance Single submitter
- ARVCF p.Arg266His Uncertain significance Single submitter
- ARVCF p.Arg294Gln Uncertain significance Single submitter
- ARVCF p.Arg342Leu Uncertain significance Single submitter
- ARVCF p.Arg350His Uncertain significance Single submitter
- ARVCF p.Arg356Trp Uncertain significance Single submitter
- ARVCF p.Arg394Gln Uncertain significance Single submitter
- ARVCF p.Arg397Trp Uncertain significance Single submitter
- ARVCF p.Arg502Cys Uncertain significance Single submitter
- ARVCF p.Arg502His Uncertain significance Single submitter
- ARVCF p.Arg537Gln Uncertain significance Single submitter
- ARVCF p.Arg541Gln Uncertain significance Single submitter
- ARVCF p.Arg608His Uncertain significance Single submitter
- ARVCF p.Arg609Trp Uncertain significance Single submitter
- ARVCF p.Arg611Gln Uncertain significance Single submitter
- ARVCF p.Arg638Gln Uncertain significance Single submitter
- ARVCF p.Arg740Gln Uncertain significance Single submitter
- ARVCF p.Arg766Gln Uncertain significance Single submitter
- ARVCF p.Arg766Leu Uncertain significance Single submitter
- ARVCF p.Arg801His Uncertain significance Single submitter
- ARVCF p.Arg907Thr Uncertain significance Single submitter
- ARVCF p.Arg910Lys Uncertain significance Single submitter
- ARVCF p.Arg912Gln Uncertain significance Single submitter
- ARVCF p.Asn458Ser Uncertain significance Single submitter
- ARVCF p.Asn528Ser Uncertain significance Single submitter
- ARVCF p.Asn565Lys Uncertain significance Single submitter
- ARVCF p.Asn565Ser Uncertain significance Single submitter
- ARVCF p.Asn5Ser Uncertain significance Single submitter
- ARVCF p.Asn694Ser Uncertain significance Single submitter
- ARVCF p.Asp306Val Uncertain significance Single submitter
- ARVCF p.Asp337Glu Uncertain significance Single submitter
- ARVCF p.Asp590Gly Uncertain significance Single submitter
- ARVCF p.Asp633His Uncertain significance Single submitter
- ARVCF p.Asp842Ala Uncertain significance Single submitter
- ARVCF p.Cys770Phe Uncertain significance Single submitter
- ARVCF p.Gln383Arg Uncertain significance Single submitter
- ARVCF p.Gln46Arg Uncertain significance Single submitter
- ARVCF p.Gln688His Uncertain significance Single submitter
- ARVCF p.Gln840Arg Uncertain significance Single submitter
- ARVCF p.Glu191Lys Uncertain significance Single submitter
- ARVCF p.Glu194Lys Uncertain significance Single submitter
- ARVCF p.Glu252Lys Uncertain significance Single submitter
- ARVCF p.Glu302Lys Uncertain significance Single submitter
- ARVCF p.Glu569Lys Uncertain significance Single submitter
- ARVCF p.Glu883Asp Uncertain significance Single submitter
- ARVCF p.Glu919Gly Uncertain significance Single submitter
- ARVCF p.Glu922Lys Uncertain significance Single submitter
- ARVCF p.Gly152Cys Uncertain significance Single submitter
- ARVCF p.Gly152Ser Uncertain significance Single submitter
- ARVCF p.Gly186Arg Uncertain significance Single submitter
- ARVCF p.Gly216Cys Uncertain significance Single submitter
- ARVCF p.Gly231Asp Uncertain significance Single submitter
- ARVCF p.Gly239Cys Uncertain significance Single submitter
- ARVCF p.Gly260Ala Uncertain significance Single submitter
- ARVCF p.Gly391Asp Uncertain significance Single submitter
- ARVCF p.Gly422Val Uncertain significance Single submitter
- ARVCF p.Gly867Cys Uncertain significance Single submitter
- ARVCF p.Gly882Ser Uncertain significance Single submitter
- ARVCF p.Gly886Val Uncertain significance Single submitter
- ARVCF p.Gly900Ala Uncertain significance Single submitter
- ARVCF p.Gly938Arg Uncertain significance Single submitter
- ARVCF p.Gly951Arg Uncertain significance Single submitter
- ARVCF p.Ile481Val Uncertain significance Single submitter
- ARVCF p.Leu178His Uncertain significance Single submitter
- ARVCF p.Leu178Phe Uncertain significance Single submitter
- ARVCF p.Leu250Val Uncertain significance Single submitter
- ARVCF p.Leu424Pro Uncertain significance Single submitter
- ARVCF p.Leu540Phe Uncertain significance Single submitter
- ARVCF p.Leu690Phe Uncertain significance Single submitter
- ARVCF p.Leu736Phe Uncertain significance Single submitter
- ARVCF p.Leu771Met Uncertain significance Single submitter
- ARVCF p.Leu780Pro Uncertain significance Single submitter
- ARVCF p.Leu880Phe Uncertain significance Single submitter
- ARVCF p.Lys707Glu Uncertain significance Single submitter
- ARVCF p.Lys923Thr Uncertain significance Single submitter
- ARVCF p.Lys933Glu Uncertain significance Single submitter
- ARVCF p.Pro140Ser Uncertain significance Single submitter
- ARVCF p.Pro154Arg Uncertain significance Single submitter
- ARVCF p.Pro154Gln Uncertain significance Single submitter
- ARVCF p.Pro154Ser Uncertain significance Single submitter
- ARVCF p.Pro230Arg Uncertain significance Single submitter
- ARVCF p.Pro237Thr Uncertain significance Single submitter
- ARVCF p.Pro240Leu Uncertain significance Single submitter
- ARVCF p.Pro328Ala Uncertain significance Single submitter
- ARVCF p.Pro353Ser Uncertain significance Single submitter
- ARVCF p.Pro358His Uncertain significance Single submitter
- ARVCF p.Pro412Leu Uncertain significance Single submitter
- ARVCF p.Pro599Leu Uncertain significance Single submitter
- ARVCF p.Pro661Arg Uncertain significance Single submitter
- ARVCF p.Pro712Leu Uncertain significance Single submitter
- ARVCF p.Pro859Leu Uncertain significance Single submitter
- ARVCF p.Pro892Ser Uncertain significance Single submitter
- ARVCF p.Pro898Gln Uncertain significance Single submitter
- ARVCF p.Pro935Ser Uncertain significance Single submitter
- ARVCF p.Pro936Ser Uncertain significance Single submitter
- ARVCF p.Ser105Phe Uncertain significance Single submitter
- ARVCF p.Ser51Thr Uncertain significance Single submitter
- ARVCF p.Ser669Phe Uncertain significance Single submitter
- ARVCF p.Ser691Asn Uncertain significance Single submitter
- ARVCF p.Ser76Ile Uncertain significance Single submitter
- ARVCF p.Ser823Leu Uncertain significance Single submitter
- ARVCF p.Ser879Asn Uncertain significance Single submitter
- ARVCF p.Ser887Arg Uncertain significance Single submitter
- ARVCF p.Ser8Leu Uncertain significance Single submitter
- ARVCF p.Ser8Pro Uncertain significance Single submitter
- ARVCF p.Ser902Tyr Uncertain significance Single submitter
- ARVCF p.Thr265Met Uncertain significance Single submitter
- ARVCF p.Thr284Met Uncertain significance Single submitter
- ARVCF p.Thr322Met Uncertain significance Single submitter
- ARVCF p.Thr516Ile Uncertain significance Single submitter
- ARVCF p.Thr522Met Uncertain significance Single submitter
- ARVCF p.Thr563Ala Uncertain significance Single submitter
- ARVCF p.Thr672Ala Uncertain significance Single submitter
- ARVCF p.Thr672Met Uncertain significance Single submitter
- ARVCF p.Thr838Ile Uncertain significance Single submitter
- ARVCF p.Thr872Met Uncertain significance Single submitter
- ARVCF p.Thr93Asn Uncertain significance Single submitter
- ARVCF p.Trp355Arg Uncertain significance Single submitter
- ARVCF p.Val124Ile Uncertain significance Single submitter
- ARVCF p.Val128Gly Uncertain significance Single submitter
Predictors split 41
The independent predictors disagree with each other — read with care.
- ARVCF p.Arg34Trp Benign Multiple submitters
- ARVCF p.Arg539Gln Benign/Likely benign Multiple submitters
- ARVCF p.Arg608Cys Likely benign Multiple submitters
- ARVCF p.Phe677Leu Likely benign Multiple submitters
- ARVCF p.Val829Ala Likely benign Multiple submitters
- ARVCF p.Ala14Pro Uncertain significance Single submitter
- ARVCF p.Ala380Thr Uncertain significance Single submitter
- ARVCF p.Ala821Thr Uncertain significance Single submitter
- ARVCF p.Arg118Trp Uncertain significance Single submitter
- ARVCF p.Arg134Gln Uncertain significance Single submitter
- ARVCF p.Arg34Gln Uncertain significance Single submitter
- ARVCF p.Arg350Cys Uncertain significance Single submitter
- ARVCF p.Arg354Ser Uncertain significance Single submitter
- ARVCF p.Arg394Trp Uncertain significance Single submitter
- ARVCF p.Arg538Gln Uncertain significance Single submitter
- ARVCF p.Arg727His Uncertain significance Single submitter
- ARVCF p.Arg740Trp Uncertain significance Single submitter
- ARVCF p.Arg741Ser Uncertain significance Single submitter
- ARVCF p.Asn389Lys Uncertain significance Single submitter
- ARVCF p.Asp532Asn Uncertain significance Single submitter
- ARVCF p.Asp590Asn Uncertain significance Single submitter
- ARVCF p.Glu113Lys Uncertain significance Single submitter
- ARVCF p.Glu24Lys Uncertain significance Single submitter
- ARVCF p.Glu329Lys Uncertain significance Single submitter
- ARVCF p.Glu773Gln Uncertain significance Single submitter
- ARVCF p.Gly401Ala Uncertain significance Single submitter
- ARVCF p.Gly533Ser Uncertain significance Single submitter
- ARVCF p.Leu427Ile Uncertain significance Single submitter
- ARVCF p.Lys631Asn Uncertain significance Single submitter
- ARVCF p.Pro147Ser Uncertain significance Single submitter
- ARVCF p.Pro957His Uncertain significance Single submitter
- ARVCF p.Ser179Tyr Uncertain significance Single submitter
- ARVCF p.Ser796Leu Uncertain significance Single submitter
- ARVCF p.Ser812Tyr Uncertain significance Single submitter
- ARVCF p.Ser8Trp Uncertain significance Single submitter
- ARVCF p.Thr104Ile Uncertain significance Single submitter
- ARVCF p.Thr132Ile Uncertain significance Single submitter
- ARVCF p.Tyr832Cys Uncertain significance Single submitter
- ARVCF p.Val374Leu Uncertain significance Single submitter
- ARVCF p.Val663Leu Uncertain significance Single submitter
- ARVCF p.Val729Ile Uncertain significance Single submitter
All ARVCF variants
Conflicting classifications of pathogenicity 1
- p.Thr838Ser Single submitter ⚠
Benign 57
- c.1396+18A>G Multiple submitters
- c.1396+198C>T Multiple submitters
- c.1396+40G>A Multiple submitters
- c.1397-146G>A Multiple submitters
- c.1397-7C>T Multiple submitters
- c.1871-172A>C Multiple submitters
- c.1889-143G>A Multiple submitters
- c.1961-164C>T Multiple submitters
- c.1961-193T>C Multiple submitters
- c.210+118G>A Multiple submitters
- c.210+34T>A Multiple submitters
- c.210+86G>A Multiple submitters
- c.211-82G>A Multiple submitters
- c.2239+156G>A Multiple submitters
- c.2239+159C>G Multiple submitters
- c.2239+65G>A Multiple submitters
- c.2438+36C>G Multiple submitters
- c.2551-44C>T Multiple submitters
- c.2641+62C>G Multiple submitters
- c.2641+72A>G Multiple submitters
- c.2641+76G>C Multiple submitters
- c.2642-21T>C Multiple submitters
- c.2695+135G>A Multiple submitters
- c.2781+43C>T Multiple submitters
- c.369+56C>T Multiple submitters
- c.896+137G>A Multiple submitters
- c.896+180G>A Multiple submitters
- c.897-215G>A Multiple submitters
- c.897-43C>A Multiple submitters
- c.-18-45C>G Multiple submitters
- c.*12+70C>T Multiple submitters
- p.Ala365= Multiple submitters
- p.Arg196Gln Multiple submitters
- p.Arg34Trp Multiple submitters ⚠
- p.Arg394= Multiple submitters
- p.Arg906Gln Multiple submitters
- p.Arg909Gln Multiple submitters
- p.Arg912Trp Multiple submitters
- p.Lys833= Multiple submitters
- p.Pro220Leu Multiple submitters
- p.Pro373= Multiple submitters
- p.Pro937= Multiple submitters
- p.Val110= Multiple submitters
- p.Val175Ala Multiple submitters
- p.Val480Ile Multiple submitters
- c.1580+100A>G Single submitter
- c.211-111C>T Single submitter
- c.2239+150dup Single submitter
- c.2641+120C>T Single submitter
- c.2781+182C>T Single submitter
- c.2782-153C>T Single submitter
- c.2782-175C>T Single submitter
- c.-18-223A>G Single submitter
- c.*12+69_*12+70del Single submitter
- p.Ala805Val Single submitter
- p.Ile786= Single submitter
- p.Pro661= Single submitter
Benign/Likely benign 2
- p.Arg539Gln Multiple submitters ⚠
- p.Pro258= Multiple submitters
Likely benign 20
- p.Arg608Cys Multiple submitters ⚠
- p.Asp150Asn Multiple submitters
- p.Phe677Leu Multiple submitters ⚠
- p.Val829Ala Multiple submitters ⚠
- c.1870+10G>A Single submitter
- p.Ala513= Single submitter
- p.Ala652= Single submitter
- p.Ala943Thr Single submitter
- p.Arg354= Single submitter
- p.Asn528= Single submitter
- p.Asp899= Single submitter
- p.Gly444= Single submitter
- p.Gly466= Single submitter
- p.Gly882= Single submitter
- p.Pro190= Single submitter
- p.Ser112= Single submitter
- p.Ser343= Single submitter
- p.Ser567= Single submitter
- p.Val141Leu Single submitter
- p.Gly598Arg No assertion criteria long QT syndrome
Uncertain significance 218
- p.Gly172Ser Multiple submitters ⚠
- p.Val958Ile Multiple submitters ⚠
- c.2439-2A>C Single submitter
- p.Ala14Pro Single submitter ⚠
- p.Ala235Asp Single submitter ⚠
- p.Ala29Val Single submitter ⚠
- p.Ala312Val Single submitter ⚠
- p.Ala323Val Single submitter ⚠
- p.Ala349Thr Single submitter ⚠
- p.Ala380Thr Single submitter ⚠
- p.Ala420Asp Single submitter ⚠
- p.Ala437Thr Single submitter ⚠
- p.Ala513Val Single submitter ⚠
- p.Ala603Val Single submitter ⚠
- p.Ala684Thr Single submitter
- p.Ala800Ser Single submitter ⚠
- p.Ala805Thr Single submitter ⚠
- p.Ala819Gly Single submitter ⚠
- p.Ala821Thr Single submitter ⚠
- p.Ala852Gly Single submitter ⚠
- p.Ala943Ser Single submitter ⚠
- p.Ala949Val Single submitter ⚠
- p.Arg118Gln Single submitter ⚠
- p.Arg118Trp Single submitter ⚠
- p.Arg119His Single submitter ⚠
- p.Arg134Gln Single submitter ⚠
- p.Arg165Gln Single submitter ⚠
- p.Arg180Gln Single submitter ⚠
- p.Arg196Trp Single submitter ⚠
- p.Arg211Gln Single submitter ⚠
- p.Arg211Trp Single submitter ⚠
- p.Arg214Cys Single submitter ⚠
- p.Arg214His Single submitter ⚠
- p.Arg22Cys Single submitter ⚠
- p.Arg22His Single submitter ⚠
- p.Arg233Gln Single submitter ⚠
- p.Arg248Cys Single submitter ⚠
- p.Arg253His Single submitter ⚠
- p.Arg266His Single submitter ⚠
- p.Arg294Gln Single submitter ⚠
- p.Arg342Leu Single submitter ⚠
- p.Arg34Gln Single submitter ⚠
- p.Arg350Cys Single submitter ⚠
- p.Arg350His Single submitter ⚠
- p.Arg354Ser Single submitter ⚠
- p.Arg356Trp Single submitter ⚠
- p.Arg394Gln Single submitter ⚠
- p.Arg394Trp Single submitter ⚠
- p.Arg397Gln Single submitter
- p.Arg397Trp Single submitter ⚠
- p.Arg413Trp Single submitter
- p.Arg417Trp Single submitter
- p.Arg440Trp Single submitter
- p.Arg502Cys Single submitter ⚠
- p.Arg502His Single submitter ⚠
- p.Arg511Trp Single submitter
- p.Arg537Gln Single submitter ⚠
- p.Arg538Gln Single submitter ⚠
- p.Arg541Gln Single submitter ⚠
- p.Arg608His Single submitter ⚠
- p.Arg609Trp Single submitter ⚠
- p.Arg611Gln Single submitter ⚠
- p.Arg638Gln Single submitter ⚠
- p.Arg665Cys Single submitter
- p.Arg727His Single submitter ⚠
- p.Arg740Gln Single submitter ⚠
- p.Arg740Trp Single submitter ⚠
- p.Arg741Ser Single submitter ⚠
- p.Arg766Gln Single submitter ⚠
- p.Arg766Leu Single submitter ⚠
- p.Arg801His Single submitter ⚠
- p.Arg907Thr Single submitter ⚠
- p.Arg910Lys Single submitter ⚠
- p.Arg912Gln Single submitter ⚠
- p.Asn389Lys Single submitter ⚠
- p.Asn458Ser Single submitter ⚠
- p.Asn528Ser Single submitter ⚠
- p.Asn565Asp Single submitter
- p.Asn565Lys Single submitter ⚠
- p.Asn565Ser Single submitter ⚠
- p.Asn5Ser Single submitter ⚠
- p.Asn694Ser Single submitter ⚠
- p.Asp306Val Single submitter ⚠
- p.Asp337Glu Single submitter ⚠
- p.Asp532Asn Single submitter ⚠
- p.Asp562Asn Single submitter
- p.Asp590Asn Single submitter ⚠
- p.Asp590Gly Single submitter ⚠
- p.Asp633His Single submitter ⚠
- p.Asp842Ala Single submitter ⚠
- p.Asp869His Single submitter
- p.Cys770Phe Single submitter ⚠
- p.Gln383Arg Single submitter ⚠
- p.Gln46Arg Single submitter ⚠
- p.Gln688His Single submitter ⚠
- p.Gln840Arg Single submitter ⚠
- p.Glu113Lys Single submitter ⚠
- p.Glu191Lys Single submitter ⚠
- p.Glu194Lys Single submitter ⚠
- p.Glu24Lys Single submitter ⚠
- p.Glu252Lys Single submitter ⚠
- p.Glu302Lys Single submitter ⚠
- p.Glu329Lys Single submitter ⚠
- p.Glu569Lys Single submitter ⚠
- p.Glu773Gln Single submitter ⚠
- p.Glu883Asp Single submitter ⚠
- p.Glu919Gly Single submitter ⚠
- p.Glu922Lys Single submitter ⚠
- p.Gly152Cys Single submitter ⚠
- p.Gly152Ser Single submitter ⚠
- p.Gly186Arg Single submitter ⚠
- p.Gly216Cys Single submitter ⚠
- p.Gly231Asp Single submitter ⚠
- p.Gly239Cys Single submitter ⚠
- p.Gly243fs Single submitter
- p.Gly260Ala Single submitter ⚠
- p.Gly391Asp Single submitter ⚠
- p.Gly401Ala Single submitter ⚠
- p.Gly422Val Single submitter ⚠
- p.Gly533Ser Single submitter ⚠
- p.Gly619Asp Single submitter
- p.Gly867Cys Single submitter ⚠
- p.Gly882Ser Single submitter ⚠
- p.Gly886Val Single submitter ⚠
- p.Gly900Ala Single submitter ⚠
- p.Gly938Arg Single submitter ⚠
- p.Gly951Arg Single submitter ⚠
- p.Ile481Val Single submitter ⚠
- p.Leu178His Single submitter ⚠
- p.Leu178Phe Single submitter ⚠
- p.Leu250Val Single submitter ⚠
- p.Leu385Val Single submitter
- p.Leu424Pro Single submitter ⚠
- p.Leu427Ile Single submitter ⚠
- p.Leu540Phe Single submitter ⚠
- p.Leu690Phe Single submitter ⚠
- p.Leu736Phe Single submitter ⚠
- p.Leu771Met Single submitter ⚠
- p.Leu780Pro Single submitter ⚠
- p.Leu809fs Single submitter
- p.Leu826Val Single submitter
- p.Leu880Phe Single submitter ⚠
- p.Lys631Asn Single submitter ⚠
- p.Lys707Glu Single submitter ⚠
- p.Lys923Thr Single submitter ⚠
- p.Lys933Glu Single submitter ⚠
- p.Pro140Ser Single submitter ⚠
- p.Pro147Ser Single submitter ⚠
- p.Pro154Arg Single submitter ⚠
- p.Pro154Gln Single submitter ⚠
- p.Pro154Ser Single submitter ⚠
- p.Pro230Arg Single submitter ⚠
- p.Pro237Thr Single submitter ⚠
- p.Pro240Leu Single submitter ⚠
- p.Pro328Ala Single submitter ⚠
- p.Pro353Ser Single submitter ⚠
- p.Pro358His Single submitter ⚠
- p.Pro412Leu Single submitter ⚠
- p.Pro599Leu Single submitter ⚠
- p.Pro661Arg Single submitter ⚠
- p.Pro712Leu Single submitter ⚠
- p.Pro859Leu Single submitter ⚠
- p.Pro892Ser Single submitter ⚠
- p.Pro898Gln Single submitter ⚠
- p.Pro935Ser Single submitter ⚠
- p.Pro936Ser Single submitter ⚠
- p.Pro957His Single submitter ⚠
- p.Ser105Phe Single submitter ⚠
- p.Ser179Tyr Single submitter ⚠
- p.Ser51Thr Single submitter ⚠
- p.Ser669Phe Single submitter ⚠
- p.Ser691Asn Single submitter ⚠
- p.Ser76Ile Single submitter ⚠
- p.Ser796Leu Single submitter ⚠
- p.Ser812Tyr Single submitter ⚠
- p.Ser823Leu Single submitter ⚠
- p.Ser879Asn Single submitter ⚠
- p.Ser887Arg Single submitter ⚠
- p.Ser8Leu Single submitter ⚠
- p.Ser8Pro Single submitter ⚠
- p.Ser8Trp Single submitter ⚠
- p.Ser902Tyr Single submitter ⚠
- p.Thr104Ile Single submitter ⚠
- p.Thr132Ile Single submitter ⚠
- p.Thr265Met Single submitter ⚠
- p.Thr284Met Single submitter ⚠
- p.Thr322Met Single submitter ⚠
- p.Thr516Ile Single submitter ⚠
- p.Thr522Met Single submitter ⚠
- p.Thr563Ala Single submitter ⚠
- p.Thr672Ala Single submitter ⚠
- p.Thr672Met Single submitter ⚠
- p.Thr838Ile Single submitter ⚠
- p.Thr872Met Single submitter ⚠
- p.Thr93Asn Single submitter ⚠
- p.Trp355Arg Single submitter ⚠
- p.Tyr832Cys Single submitter ⚠
- p.Tyr901His Single submitter
- p.Val124Ile Single submitter ⚠
- p.Val128Gly Single submitter ⚠
- p.Val128Ile Single submitter ⚠
- p.Val139Leu Single submitter ⚠
- p.Val141Met Single submitter ⚠
- p.Val371Met Single submitter ⚠
- p.Val374Leu Single submitter ⚠
- p.Val374Met Single submitter ⚠
- p.Val558Met Single submitter ⚠
- p.Val568fs Single submitter
- p.Val572Leu Single submitter ⚠
- p.Val663Leu Single submitter ⚠
- p.Val729Ile Single submitter ⚠
- p.Val776Gly Single submitter
- p.Val810Leu Single submitter ⚠
- p.Val810Met Single submitter ⚠
- p.Val947Ala Single submitter ⚠
- p.Val94Leu Single submitter ⚠
- p.Val950Ile Single submitter ⚠
- p.Asp613Asn No assertion criteria microcephaly ⚠