ACVR2B — 372 ClinVar variants
All ClinVar germline ACVR2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 77 flagged for review →
2 Likely pathogenic · 3 Conflicting · 85 Benign · 7 Benign/Likely benign · 61 Likely benign · 214 Uncertain significance
Full ACVR2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 77
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 42
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ACVR2B p.Arg163His
Uncertain significance
Multiple submitters
heterotaxy, visceral, 4, autosomal
-
ACVR2B p.Arg482Gln
Uncertain significance
Multiple submitters
heterotaxy, visceral, 4, autosomal
-
ACVR2B p.Gln246His
Uncertain significance
Multiple submitters
ACVR2B-related disorder
-
ACVR2B p.Leu396Val
Uncertain significance
Multiple submitters
heterotaxy, visceral, 4, autosomal
-
ACVR2B p.Met386Leu
Uncertain significance
Multiple submitters
heterotaxy, visceral, 4, autosomal
-
ACVR2B p.Thr137Met
Uncertain significance
Multiple submitters
heterotaxy, visceral, 4, autosomal
-
ACVR2B p.Val185Leu
Uncertain significance
Multiple submitters
heterotaxy, visceral, 4, autosomal
-
ACVR2B p.Val259Leu
Uncertain significance
Multiple submitters
heterotaxy, visceral, 4, autosomal
-
ACVR2B p.Val494Ile
Uncertain significance
Multiple submitters
heterotaxy, visceral, 4, autosomal
-
ACVR2B p.Ala34Thr
Uncertain significance
Single submitter
heterotaxy, visceral, 4, autosomal
- ACVR2B p.Ala34Val Uncertain significance Single submitter
-
ACVR2B p.Ala7Val
Uncertain significance
Single submitter
heterotaxy, visceral, 4, autosomal
- ACVR2B p.Arg363Trp Uncertain significance Single submitter
-
ACVR2B p.Arg399Gly
Uncertain significance
Single submitter
heterotaxy, visceral, 4, autosomal
-
ACVR2B p.Arg468Cys
Uncertain significance
Single submitter
heterotaxy, visceral, 4, autosomal
-
ACVR2B p.Arg477Gln
Uncertain significance
Single submitter
heterotaxy, visceral, 4, autosomal
-
ACVR2B p.Arg48Leu
Uncertain significance
Single submitter
heterotaxy, visceral, 4, autosomal
- ACVR2B p.Asn486Ser Uncertain significance Single submitter
- ACVR2B p.Cys16Trp Uncertain significance Single submitter
- ACVR2B p.Cys308Ser Uncertain significance Single submitter
- ACVR2B p.Glu127Lys Uncertain significance Single submitter
-
ACVR2B p.Glu50Lys
Uncertain significance
Single submitter
heterotaxy, visceral, 4, autosomal
-
ACVR2B p.Glu95Gln
Uncertain significance
Single submitter
heterotaxy, visceral, 4, autosomal
-
ACVR2B p.Gly405Arg
Uncertain significance
Single submitter
heterotaxy, visceral, 4, autosomal
-
ACVR2B p.His115Tyr
Uncertain significance
Single submitter
heterotaxy, visceral, 4, autosomal
-
ACVR2B p.Ile218Phe
Uncertain significance
Single submitter
heterotaxy, visceral, 4, autosomal
-
ACVR2B p.Ile384Thr
Uncertain significance
Single submitter
heterotaxy, visceral, 4, autosomal
- ACVR2B p.Ile418Phe Uncertain significance Single submitter
-
ACVR2B p.Ile512Val
Uncertain significance
Single submitter
heterotaxy, visceral, 4, autosomal
-
ACVR2B p.Leu136Phe
Uncertain significance
Single submitter
heterotaxy, visceral, 4, autosomal
-
ACVR2B p.Leu193Arg
Uncertain significance
Single submitter
heterotaxy, visceral, 4, autosomal
- ACVR2B p.Lys401Met Uncertain significance Single submitter
- ACVR2B p.Pro183Arg Uncertain significance Single submitter
- ACVR2B p.Pro220Ala Uncertain significance Single submitter
- ACVR2B p.Pro352Ala Uncertain significance Single submitter
- ACVR2B p.Ser14Ala Uncertain significance Single submitter
-
ACVR2B p.Ser470Phe
Uncertain significance
Single submitter
heterotaxy, visceral, 4, autosomal
-
ACVR2B p.Ser484Leu
Uncertain significance
Single submitter
heterotaxy, visceral, 4, autosomal
- ACVR2B p.Thr26Ile Uncertain significance Single submitter
- ACVR2B p.Tyr31Phe Uncertain significance Single submitter
- ACVR2B p.Val259Ala Uncertain significance Single submitter
- ACVR2B p.Val290Ile Uncertain significance Single submitter
Predictors split 34
The independent predictors disagree with each other — read with care.
-
ACVR2B p.Arg161Trp
Uncertain significance
Multiple submitters
heterotaxy, visceral, 4, autosomal
-
ACVR2B p.Arg21His
Uncertain significance
Multiple submitters
heterotaxy, visceral, 4, autosomal
-
ACVR2B p.Arg309His
Uncertain significance
Multiple submitters
heterotaxy, visceral, 4, autosomal
-
ACVR2B p.Arg40His
Benign/Likely benign
Multiple submitters
heterotaxy, visceral, 4, autosomal
-
ACVR2B p.Arg482Trp
Benign/Likely benign
Multiple submitters
heterotaxy, visceral, 4, autosomal
-
ACVR2B p.Leu493Phe
Likely benign
Multiple submitters
heterotaxy, visceral, 4, autosomal
-
ACVR2B p.Leu8Phe
Uncertain significance
Multiple submitters
heterotaxy, visceral, 4, autosomal
-
ACVR2B p.Pro122Leu
Uncertain significance
Multiple submitters
heterotaxy, visceral, 4, autosomal
-
ACVR2B p.Pro176Arg
Uncertain significance
Multiple submitters
heterotaxy, visceral, 4, autosomal
-
ACVR2B p.Val327Ile
Uncertain significance
Multiple submitters
heterotaxy, visceral, 4, autosomal
-
ACVR2B p.Arg161Gln
Likely benign
Single submitter
heterotaxy, visceral, 4, autosomal
-
ACVR2B p.Arg21Cys
Uncertain significance
Single submitter
ACVR2B-related disorder
-
ACVR2B p.Arg309Cys
Uncertain significance
Single submitter
heterotaxy, visceral, 4, autosomal
- ACVR2B p.Arg48His Uncertain significance Single submitter
-
ACVR2B p.Glu258Lys
Uncertain significance
Single submitter
heterotaxy, visceral, 4, autosomal
- ACVR2B p.Glu260Asp Uncertain significance Single submitter
-
ACVR2B p.Glu52Lys
Uncertain significance
Single submitter
heterotaxy, visceral, 4, autosomal
-
ACVR2B p.Ile418Leu
Uncertain significance
Single submitter
heterotaxy, visceral, 4, autosomal
- ACVR2B p.Lys55Arg Uncertain significance Single submitter
- ACVR2B p.Phe82Val Uncertain significance Single submitter
- ACVR2B p.Pro128Arg Uncertain significance Single submitter
- ACVR2B p.Pro133Ser Uncertain significance Single submitter
- ACVR2B p.Pro145Ser Uncertain significance Single submitter
-
ACVR2B p.Pro181Leu
Uncertain significance
Single submitter
heterotaxy, visceral, 4, autosomal
- ACVR2B p.Ser229Arg Uncertain significance Single submitter
- ACVR2B p.Ser490Leu Uncertain significance Single submitter
-
ACVR2B p.Ser511Asn
Uncertain significance
Single submitter
heterotaxy, visceral, 4, autosomal
- ACVR2B p.Thr114Ile Uncertain significance Single submitter
-
ACVR2B p.Tyr160Phe
Uncertain significance
Single submitter
heterotaxy, visceral, 4, autosomal
-
ACVR2B p.Val344Ile
Uncertain significance
Single submitter
heterotaxy, visceral, 4, autosomal
-
ACVR2B p.Val407Leu
Uncertain significance
Single submitter
heterotaxy, visceral, 4, autosomal
-
ACVR2B p.Val407Met
Uncertain significance
Single submitter
heterotaxy, visceral, 4, autosomal
-
ACVR2B p.Val497Met
Uncertain significance
Single submitter
heterotaxy, visceral, 4, autosomal
-
ACVR2B p.Ala451Val
Uncertain significance
No assertion criteria
ACVR2B-related disorder
All ACVR2B variants
Likely pathogenic 2
- p.Arg383Cys Multiple submitters heterotaxy, visceral, 4, autosomal
- p.Arg383His Single submitter heterotaxy, visceral, 4, autosomal
Conflicting classifications of pathogenicity 3
- c.*4565A>G Single submitter heterotaxy, visceral, 4, autosomal
- p.Cys492Ser Single submitter ⚠
- p.Ser423= Single submitter heterotaxy, visceral, 4, autosomal
Benign 85
- c.1075-194G>T Multiple submitters
- c.1344+7G>T Multiple submitters heterotaxy, visceral, 4, autosomal
- c.52+200C>T Multiple submitters
- c.666+5G>A Multiple submitters heterotaxy, visceral, 4, autosomal
- c.667-9C>T Multiple submitters heterotaxy, visceral, 4, autosomal
- c.811-13T>C Multiple submitters heterotaxy, visceral, 4, autosomal
- c.811-168C>T Multiple submitters
- c.811-73C>T Multiple submitters
- c.*1041A>C Multiple submitters heterotaxy, visceral, 4, autosomal
- c.*133A>T Multiple submitters heterotaxy, visceral, 4, autosomal
- c.*204C>T Multiple submitters heterotaxy, visceral, 4, autosomal
- c.*2280A>G Multiple submitters heterotaxy, visceral, 4, autosomal
- c.*2392T>C Multiple submitters heterotaxy, visceral, 4, autosomal
- c.*2900T>C Multiple submitters heterotaxy, visceral, 4, autosomal
- c.*3090C>T Multiple submitters heterotaxy, visceral, 4, autosomal
- c.*3714G>T Multiple submitters heterotaxy, visceral, 4, autosomal
- c.*4617C>G Multiple submitters heterotaxy, visceral, 4, autosomal
- c.*4995C>T Multiple submitters heterotaxy, visceral, 4, autosomal
- c.*5002C>T Multiple submitters heterotaxy, visceral, 4, autosomal
- c.*501G>C Multiple submitters heterotaxy, visceral, 4, autosomal
- c.*5256A>G Multiple submitters heterotaxy, visceral, 4, autosomal
- c.*6388T>G Multiple submitters heterotaxy, visceral, 4, autosomal
- c.*6948G>A Multiple submitters heterotaxy, visceral, 4, autosomal
- c.*744T>C Multiple submitters heterotaxy, visceral, 4, autosomal
- c.*765G>A Multiple submitters heterotaxy, visceral, 4, autosomal
- c.*7688G>A Multiple submitters heterotaxy, visceral, 4, autosomal
- c.*8512A>C Multiple submitters heterotaxy, visceral, 4, autosomal
- c.*911C>T Multiple submitters heterotaxy, visceral, 4, autosomal
- c.*9319T>A Multiple submitters heterotaxy, visceral, 4, autosomal
- p.Asn486= Multiple submitters heterotaxy, visceral, 4, autosomal
- p.Cys49= Multiple submitters heterotaxy, visceral, 4, autosomal
- p.Glu111= Multiple submitters heterotaxy, visceral, 4, autosomal
- p.Ser331= Multiple submitters heterotaxy, visceral, 4, autosomal
- c.1344+143G>C Single submitter
- c.1344+260A>G Single submitter
- c.1344+277G>C Single submitter
- c.1344+287C>G Single submitter
- c.1344+35G>A Single submitter
- c.1345-266C>T Single submitter
- c.370+14G>A Single submitter heterotaxy, visceral, 4, autosomal
- c.959+108C>T Single submitter
- c.960-72T>C Single submitter
- c.*1042G>A Single submitter heterotaxy, visceral, 4, autosomal
- c.*1375C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*1376G>A Single submitter heterotaxy, visceral, 4, autosomal
- c.*1429C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*15T>C Single submitter heterotaxy, visceral, 4, autosomal
- c.*1891G>C Single submitter heterotaxy, visceral, 4, autosomal
- c.*1957T>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*2005C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*2042C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*2425G>A Single submitter heterotaxy, visceral, 4, autosomal
- c.*3127G>A Single submitter heterotaxy, visceral, 4, autosomal
- c.*3169T>A Single submitter heterotaxy, visceral, 4, autosomal
- c.*3316G>A Single submitter heterotaxy, visceral, 4, autosomal
- c.*3334G>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*338C>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*342TTGT[1] Single submitter
- c.*3570A>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*3748G>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*394G>A Single submitter heterotaxy, visceral, 4, autosomal
- c.*3956A>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*420A>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*4218A>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*427C>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*4423A>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*476C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*483C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*4963T>A Single submitter heterotaxy, visceral, 4, autosomal
- c.*5700A>C Single submitter heterotaxy, visceral, 4, autosomal
- c.*5901C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*592C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*6156C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*6173A>C Single submitter heterotaxy, visceral, 4, autosomal
- c.*6553G>A Single submitter heterotaxy, visceral, 4, autosomal
- c.*6638C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*7379G>A Single submitter heterotaxy, visceral, 4, autosomal
- c.*7413T>C Single submitter heterotaxy, visceral, 4, autosomal
- c.*7619C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*8026C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*8141C>A Single submitter heterotaxy, visceral, 4, autosomal
- c.*8187G>A Single submitter heterotaxy, visceral, 4, autosomal
- c.*87A>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*9471C>T Single submitter heterotaxy, visceral, 4, autosomal
- p.Leu257= Single submitter heterotaxy, visceral, 4, autosomal
Benign/Likely benign 7
- c.1075-5C>T Multiple submitters heterotaxy, visceral, 4, autosomal
- c.811-12G>A Multiple submitters heterotaxy, visceral, 4, autosomal
- p.Ala380= Multiple submitters heterotaxy, visceral, 4, autosomal
- p.Arg40His Multiple submitters heterotaxy, visceral, 4, autosomal ⚠
- p.Arg482Trp Multiple submitters heterotaxy, visceral, 4, autosomal ⚠
- p.Ser470= Multiple submitters heterotaxy, visceral, 4, autosomal
- p.Ser484= Multiple submitters heterotaxy, visceral, 4, autosomal
Likely benign 61
- c.960-19T>C Multiple submitters heterotaxy, visceral, 4, autosomal
- c.*1656A>T Multiple submitters heterotaxy, visceral, 4, autosomal
- p.Ile70= Multiple submitters heterotaxy, visceral, 4, autosomal
- p.Leu493Phe Multiple submitters heterotaxy, visceral, 4, autosomal ⚠
- c.1075-19C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.1345-11A>G Single submitter heterotaxy, visceral, 4, autosomal
- c.260+10G>C Single submitter heterotaxy, visceral, 4, autosomal
- c.260+12C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.260+7C>G Single submitter heterotaxy, visceral, 4, autosomal
- c.261-8G>A Single submitter heterotaxy, visceral, 4, autosomal
- c.370+16G>A Single submitter heterotaxy, visceral, 4, autosomal
- c.370+20G>T Single submitter heterotaxy, visceral, 4, autosomal
- c.371-9G>C Single submitter heterotaxy, visceral, 4, autosomal
- c.52+8C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.522+8_522+10dup Single submitter heterotaxy, visceral, 4, autosomal
- c.53-20C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.666+10T>C Single submitter
- c.667-14_667-13insT Single submitter heterotaxy, visceral, 4, autosomal
- c.811-9T>C Single submitter heterotaxy, visceral, 4, autosomal
- c.959+14C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*1613C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*1815G>A Single submitter heterotaxy, visceral, 4, autosomal
- c.*1831G>A Single submitter heterotaxy, visceral, 4, autosomal
- c.*2025G>C Single submitter heterotaxy, visceral, 4, autosomal
- c.*3758A>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*4741T>C Single submitter heterotaxy, visceral, 4, autosomal
- c.*767C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*9737C>T Single submitter heterotaxy, visceral, 4, autosomal
- p.Ala140= Single submitter heterotaxy, visceral, 4, autosomal
- p.Ala3= Single submitter heterotaxy, visceral, 4, autosomal
- p.Ala403= Single submitter heterotaxy, visceral, 4, autosomal
- p.Arg161Gln Single submitter heterotaxy, visceral, 4, autosomal ⚠
- p.Asn33= Single submitter heterotaxy, visceral, 4, autosomal
- p.Asp54= Single submitter heterotaxy, visceral, 4, autosomal
- p.Asp81= Single submitter heterotaxy, visceral, 4, autosomal
- p.Cys59= Single submitter
- p.Glu347= Single submitter heterotaxy, visceral, 4, autosomal
- p.Glu416= Single submitter heterotaxy, visceral, 4, autosomal
- p.Glu429= Single submitter heterotaxy, visceral, 4, autosomal
- p.Gly360= Single submitter heterotaxy, visceral, 4, autosomal
- p.His169= Single submitter heterotaxy, visceral, 4, autosomal
- p.His356= Single submitter
- p.Ile418= Single submitter heterotaxy, visceral, 4, autosomal
- p.Ile457= Single submitter heterotaxy, visceral, 4, autosomal
- p.Ile512= Single submitter heterotaxy, visceral, 4, autosomal
- p.Leu273= Single submitter heterotaxy, visceral, 4, autosomal
- p.Leu38= Single submitter heterotaxy, visceral, 4, autosomal
- p.Leu393= Single submitter heterotaxy, visceral, 4, autosomal
- p.Phe234= Single submitter heterotaxy, visceral, 4, autosomal
- p.Pro117= Single submitter heterotaxy, visceral, 4, autosomal
- p.Pro122= Single submitter heterotaxy, visceral, 4, autosomal
- p.Pro352= Single submitter heterotaxy, visceral, 4, autosomal
- p.Pro367= Single submitter
- p.Ser510= Single submitter heterotaxy, visceral, 4, autosomal
- p.Thr293= Single submitter
- p.Val170= Single submitter heterotaxy, visceral, 4, autosomal
- p.Val327= Single submitter heterotaxy, visceral, 4, autosomal
- p.Val397= Single submitter heterotaxy, visceral, 4, autosomal
- c.52+9_52+10del No assertion criteria ACVR2B-related disorder
- c.*9C>T No assertion criteria ACVR2B-related disorder
- p.Ala335= No assertion criteria ACVR2B-related disorder
Uncertain significance 214
- c.*4984T>C Multiple submitters heterotaxy, visceral, 4, autosomal
- c.*9473T>C Multiple submitters heterotaxy, visceral, 4, autosomal
- p.Arg161Trp Multiple submitters heterotaxy, visceral, 4, autosomal ⚠
- p.Arg163His Multiple submitters heterotaxy, visceral, 4, autosomal ⚠
- p.Arg21His Multiple submitters heterotaxy, visceral, 4, autosomal ⚠
- p.Arg309His Multiple submitters heterotaxy, visceral, 4, autosomal ⚠
- p.Arg482Gln Multiple submitters heterotaxy, visceral, 4, autosomal ⚠
- p.Gln246His Multiple submitters ACVR2B-related disorder ⚠
- p.Leu396Val Multiple submitters heterotaxy, visceral, 4, autosomal ⚠
- p.Leu8Phe Multiple submitters heterotaxy, visceral, 4, autosomal ⚠
- p.Met386Leu Multiple submitters heterotaxy, visceral, 4, autosomal ⚠
- p.Pro122Leu Multiple submitters heterotaxy, visceral, 4, autosomal ⚠
- p.Pro176Arg Multiple submitters heterotaxy, visceral, 4, autosomal ⚠
- p.Thr137Met Multiple submitters heterotaxy, visceral, 4, autosomal ⚠
- p.Val185Leu Multiple submitters heterotaxy, visceral, 4, autosomal ⚠
- p.Val259Leu Multiple submitters heterotaxy, visceral, 4, autosomal ⚠
- p.Val327Ile Multiple submitters heterotaxy, visceral, 4, autosomal ⚠
- p.Val494Ile Multiple submitters heterotaxy, visceral, 4, autosomal ⚠
- c.1213+14C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.260+1G>C Single submitter heterotaxy, visceral, 4, autosomal
- c.370+5G>A Single submitter heterotaxy, visceral, 4, autosomal
- c.371-3C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.666+2T>C Single submitter heterotaxy, visceral, 4, autosomal
- c.666+8_666+9delinsAG Single submitter heterotaxy, visceral, 4, autosomal
- c.811-13_811-12inv Single submitter heterotaxy, visceral, 4, autosomal
- c.811-3C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.960-3C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.-21C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*1020G>C Single submitter heterotaxy, visceral, 4, autosomal
- c.*106G>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*1210T>C Single submitter heterotaxy, visceral, 4, autosomal
- c.*1251C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*1265G>A Single submitter heterotaxy, visceral, 4, autosomal
- c.*146T>C Single submitter heterotaxy, visceral, 4, autosomal
- c.*147A>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*14G>A Single submitter heterotaxy, visceral, 4, autosomal
- c.*1544C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*159T>A Single submitter heterotaxy, visceral, 4, autosomal
- c.*1633C>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*166A>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*1785C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*1792C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*1892G>A Single submitter heterotaxy, visceral, 4, autosomal
- c.*1969A>C Single submitter heterotaxy, visceral, 4, autosomal
- c.*1988C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*2002C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*2036G>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*2071G>A Single submitter heterotaxy, visceral, 4, autosomal
- c.*2154A>C Single submitter heterotaxy, visceral, 4, autosomal
- c.*2318C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*2359_*2361del Single submitter
- c.*2360_*2361dup Single submitter
- c.*2361dup Single submitter
- c.*2392T>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*2619C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*2758C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*2791C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*2829C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*2833C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*3078C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*3140C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*3180T>C Single submitter heterotaxy, visceral, 4, autosomal
- c.*3300C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*3345A>C Single submitter heterotaxy, visceral, 4, autosomal
- c.*3345A>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*3401C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*3530C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*3712G>C Single submitter heterotaxy, visceral, 4, autosomal
- c.*3895T>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*4026C>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*4085A>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*4333T>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*4366G>A Single submitter heterotaxy, visceral, 4, autosomal
- c.*4418A>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*4486C>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*4608A>C Single submitter heterotaxy, visceral, 4, autosomal
- c.*4610A>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*4650A>C Single submitter heterotaxy, visceral, 4, autosomal
- c.*4699C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*4726G>A Single submitter heterotaxy, visceral, 4, autosomal
- c.*4793A>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*488G>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*4890T>C Single submitter heterotaxy, visceral, 4, autosomal
- c.*5022C>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*5086C>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*5096A>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*5161A>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*5264C>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*5285A>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*5469A>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*5569C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*5587T>A Single submitter heterotaxy, visceral, 4, autosomal
- c.*5767T>C Single submitter heterotaxy, visceral, 4, autosomal
- c.*5841C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*5888A>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*6043C>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*6071G>A Single submitter heterotaxy, visceral, 4, autosomal
- c.*6157G>A Single submitter heterotaxy, visceral, 4, autosomal
- c.*6206T>C Single submitter heterotaxy, visceral, 4, autosomal
- c.*630T>C Single submitter heterotaxy, visceral, 4, autosomal
- c.*6372A>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*6389A>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*6465A>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*6522T>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*6534C>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*665G>A Single submitter heterotaxy, visceral, 4, autosomal
- c.*668C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*6847C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*696G>A Single submitter heterotaxy, visceral, 4, autosomal
- c.*7110T>C Single submitter heterotaxy, visceral, 4, autosomal
- c.*7179G>A Single submitter heterotaxy, visceral, 4, autosomal
- c.*7227C>A Single submitter heterotaxy, visceral, 4, autosomal
- c.*7292T>C Single submitter heterotaxy, visceral, 4, autosomal
- c.*7341A>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*7424A>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*7620G>A Single submitter heterotaxy, visceral, 4, autosomal
- c.*7643G>A Single submitter heterotaxy, visceral, 4, autosomal
- c.*788G>A Single submitter heterotaxy, visceral, 4, autosomal
- c.*7915A>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*7959G>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*8037G>A Single submitter heterotaxy, visceral, 4, autosomal
- c.*8294A>C Single submitter heterotaxy, visceral, 4, autosomal
- c.*8308C>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*8427T>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*8439T>C Single submitter heterotaxy, visceral, 4, autosomal
- c.*8492G>C Single submitter heterotaxy, visceral, 4, autosomal
- c.*8561A>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*8696G>A Single submitter heterotaxy, visceral, 4, autosomal
- c.*8714G>A Single submitter heterotaxy, visceral, 4, autosomal
- c.*8714G>C Single submitter heterotaxy, visceral, 4, autosomal
- c.*8812C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*8845T>C Single submitter heterotaxy, visceral, 4, autosomal
- c.*8980T>C Single submitter heterotaxy, visceral, 4, autosomal
- c.*9038G>A Single submitter heterotaxy, visceral, 4, autosomal
- c.*9041T>C Single submitter heterotaxy, visceral, 4, autosomal
- c.*9084T>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*9150C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*9272C>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*9286A>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*9317_*9318dup Single submitter
- c.*9317_*9318insT Single submitter
- c.*9317A>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*9399T>C Single submitter heterotaxy, visceral, 4, autosomal
- c.*9469C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*9476A>C Single submitter heterotaxy, visceral, 4, autosomal
- c.*9484T>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*9584C>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*9711T>C Single submitter heterotaxy, visceral, 4, autosomal
- c.*9731C>T Single submitter heterotaxy, visceral, 4, autosomal
- c.*9763T>G Single submitter heterotaxy, visceral, 4, autosomal
- c.*9783A>T Single submitter heterotaxy, visceral, 4, autosomal
- p.Ala34Thr Single submitter heterotaxy, visceral, 4, autosomal ⚠
- p.Ala34Val Single submitter ⚠
- p.Ala7Val Single submitter heterotaxy, visceral, 4, autosomal ⚠
- p.Arg21Cys Single submitter ACVR2B-related disorder ⚠
- p.Arg309Cys Single submitter heterotaxy, visceral, 4, autosomal ⚠
- p.Arg363Trp Single submitter ⚠
- p.Arg399Gly Single submitter heterotaxy, visceral, 4, autosomal ⚠
- p.Arg468Cys Single submitter heterotaxy, visceral, 4, autosomal ⚠
- p.Arg477Gln Single submitter heterotaxy, visceral, 4, autosomal ⚠
- p.Arg48His Single submitter ⚠
- p.Arg48Leu Single submitter heterotaxy, visceral, 4, autosomal ⚠
- p.Asn486Ser Single submitter ⚠
- p.Cys16Trp Single submitter ⚠
- p.Cys308Ser Single submitter ⚠
- p.Glu127Lys Single submitter ⚠
- p.Glu258Lys Single submitter heterotaxy, visceral, 4, autosomal ⚠
- p.Glu260Asp Single submitter ⚠
- p.Glu426fs Single submitter heterotaxy, visceral, 4, autosomal
- p.Glu50Lys Single submitter heterotaxy, visceral, 4, autosomal ⚠
- p.Glu52Lys Single submitter heterotaxy, visceral, 4, autosomal ⚠
- p.Glu95Gln Single submitter heterotaxy, visceral, 4, autosomal ⚠
- p.Gly310= Single submitter heterotaxy, visceral, 4, autosomal
- p.Gly405Arg Single submitter heterotaxy, visceral, 4, autosomal ⚠
- p.His115Tyr Single submitter heterotaxy, visceral, 4, autosomal ⚠
- p.Ile218Phe Single submitter heterotaxy, visceral, 4, autosomal ⚠
- p.Ile384Thr Single submitter heterotaxy, visceral, 4, autosomal ⚠
- p.Ile418Leu Single submitter heterotaxy, visceral, 4, autosomal ⚠
- p.Ile418Phe Single submitter ⚠
- p.Ile512Val Single submitter heterotaxy, visceral, 4, autosomal ⚠
- p.Leu136Phe Single submitter heterotaxy, visceral, 4, autosomal ⚠
- p.Leu15= Single submitter heterotaxy, visceral, 4, autosomal
- p.Leu193Arg Single submitter heterotaxy, visceral, 4, autosomal ⚠
- p.Lys401Met Single submitter ⚠
- p.Lys55Arg Single submitter ⚠
- p.Met1Val Single submitter heterotaxy, visceral, 4, autosomal
- p.Phe82Val Single submitter ⚠
- p.Pro128Arg Single submitter ⚠
- p.Pro133Ser Single submitter ⚠
- p.Pro145Ser Single submitter ⚠
- p.Pro181Leu Single submitter heterotaxy, visceral, 4, autosomal ⚠
- p.Pro183Arg Single submitter ⚠
- p.Pro220Ala Single submitter ⚠
- p.Pro352Ala Single submitter ⚠
- p.Ser14Ala Single submitter ⚠
- p.Ser182= Single submitter heterotaxy, visceral, 4, autosomal
- p.Ser229Arg Single submitter ⚠
- p.Ser470Phe Single submitter heterotaxy, visceral, 4, autosomal ⚠
- p.Ser484Leu Single submitter heterotaxy, visceral, 4, autosomal ⚠
- p.Ser490Leu Single submitter ⚠
- p.Ser511Asn Single submitter heterotaxy, visceral, 4, autosomal ⚠
- p.Thr114Ile Single submitter ⚠
- p.Thr26Ile Single submitter ⚠
- p.Thr283= Single submitter heterotaxy, visceral, 4, autosomal
- p.Trp205Ter Single submitter heterotaxy, visceral, 4, autosomal
- p.Tyr160Phe Single submitter heterotaxy, visceral, 4, autosomal ⚠
- p.Tyr31Phe Single submitter ⚠
- p.Val259Ala Single submitter ⚠
- p.Val290Ile Single submitter ⚠
- p.Val344Ile Single submitter heterotaxy, visceral, 4, autosomal ⚠
- p.Val407Leu Single submitter heterotaxy, visceral, 4, autosomal ⚠
- p.Val407Met Single submitter heterotaxy, visceral, 4, autosomal ⚠
- p.Val497Met Single submitter heterotaxy, visceral, 4, autosomal ⚠
- p.Ala451Val No assertion criteria ACVR2B-related disorder ⚠