BMS1 — 238 ClinVar variants
All ClinVar germline BMS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 185 flagged for review →
1 Pathogenic · 3 Conflicting · 20 Benign · 1 Benign/Likely benign · 36 Likely benign · 177 Uncertain significance
Full BMS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 185
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 101
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BMS1 p.Ala156Gly Uncertain significance Single submitter
- BMS1 p.Ala318Thr Uncertain significance Single submitter
- BMS1 p.Ala479Val Uncertain significance Single submitter
- BMS1 p.Ala542Thr Uncertain significance Single submitter
- BMS1 p.Ala685Val Uncertain significance Single submitter
- BMS1 p.Arg1062Gln Uncertain significance Single submitter
- BMS1 p.Arg1076Gln Uncertain significance Single submitter
- BMS1 p.Arg1083Thr Uncertain significance Single submitter
- BMS1 p.Arg1156Ser Uncertain significance Single submitter
- BMS1 p.Arg1193Lys Uncertain significance Single submitter
- BMS1 p.Arg1194Gln Uncertain significance Single submitter
- BMS1 p.Arg24Gln Uncertain significance Single submitter
- BMS1 p.Arg949Gly Uncertain significance Single submitter
- BMS1 p.Asn234Ser Uncertain significance Single submitter
- BMS1 p.Asn273Asp Uncertain significance Single submitter
- BMS1 p.Asp148His Uncertain significance Single submitter
- BMS1 p.Asp148Tyr Uncertain significance Single submitter
- BMS1 p.Asp187Asn Uncertain significance Single submitter
- BMS1 p.Asp405Gly Uncertain significance Single submitter
- BMS1 p.Asp454Glu Uncertain significance Single submitter
- BMS1 p.Asp462Gly Uncertain significance Single submitter
- BMS1 p.Asp578Asn Uncertain significance Single submitter
- BMS1 p.Asp657Asn Uncertain significance Single submitter
- BMS1 p.Asp746Gly Uncertain significance Single submitter
- BMS1 p.Asp827Glu Uncertain significance Single submitter
- BMS1 p.Asp871Asn Uncertain significance Single submitter
- BMS1 p.Cys895Phe Uncertain significance Single submitter
- BMS1 p.Cys895Tyr Uncertain significance Single submitter
- BMS1 p.Gln684Arg Uncertain significance Single submitter
- BMS1 p.Gln684Glu Uncertain significance Single submitter
- BMS1 p.Glu1204Gly Uncertain significance Single submitter
- BMS1 p.Glu489Lys Uncertain significance Single submitter
- BMS1 p.Glu534Gln Uncertain significance Single submitter
- BMS1 p.Glu564Asp Uncertain significance Single submitter
- BMS1 p.Glu604Asp Uncertain significance Single submitter
- BMS1 p.Glu605Asp Uncertain significance Single submitter
- BMS1 p.Glu764Gln Uncertain significance Single submitter
- BMS1 p.Glu764Lys Uncertain significance Single submitter
- BMS1 p.Glu806Asp Uncertain significance Single submitter
- BMS1 p.Gly284Asp Uncertain significance Single submitter
- BMS1 p.Gly32Ala Uncertain significance Single submitter
- BMS1 p.Gly344Arg Uncertain significance Single submitter
- BMS1 p.Gly344Val Uncertain significance Single submitter
- BMS1 p.Gly434Arg Uncertain significance Single submitter
- BMS1 p.Gly516Val Uncertain significance Single submitter
- BMS1 p.Gly533Glu Uncertain significance Single submitter
- BMS1 p.Gly626Asp Uncertain significance Single submitter
- BMS1 p.Gly626Ser Uncertain significance Single submitter
- BMS1 p.Gly761Glu Uncertain significance Single submitter
- BMS1 p.Gly979Arg Uncertain significance Single submitter
- BMS1 p.His1165Arg Uncertain significance Single submitter
- BMS1 p.His1236Tyr Uncertain significance Single submitter
- BMS1 p.His204Arg Uncertain significance Single submitter
- BMS1 p.His290Asn Uncertain significance Single submitter
- BMS1 p.His792Tyr Uncertain significance Single submitter
- BMS1 p.Ile1166Val Uncertain significance Single submitter
- BMS1 p.Ile377Leu Uncertain significance Single submitter
- BMS1 p.Ile537Val Uncertain significance Single submitter
- BMS1 p.Ile805Met Uncertain significance Single submitter
- BMS1 p.Ile805Thr Uncertain significance Single submitter
- BMS1 p.Leu29Arg Uncertain significance Single submitter
- BMS1 p.Leu568Val Uncertain significance Single submitter
- BMS1 p.Leu629Pro Uncertain significance Single submitter
-
BMS1 p.Leu732Val
Uncertain significance
Single submitter
aplasia cutis congenita
- BMS1 p.Lys349Thr Uncertain significance Single submitter
- BMS1 p.Lys666Arg Uncertain significance Single submitter
- BMS1 p.Lys67Glu Uncertain significance Single submitter
- BMS1 p.Lys823Glu Uncertain significance Single submitter
- BMS1 p.Met299Ile Uncertain significance Single submitter
- BMS1 p.Met412Val Uncertain significance Single submitter
- BMS1 p.Met427Ile Uncertain significance Single submitter
- BMS1 p.Met478Thr Uncertain significance Single submitter
- BMS1 p.Phe1237Leu Uncertain significance Single submitter
- BMS1 p.Phe362Leu Uncertain significance Single submitter
- BMS1 p.Phe45Leu Uncertain significance Single submitter
- BMS1 p.Phe901Ser Uncertain significance Single submitter
- BMS1 p.Pro1196Leu Uncertain significance Single submitter
- BMS1 p.Pro631Leu Uncertain significance Single submitter
- BMS1 p.Pro721Leu Uncertain significance Single submitter
-
BMS1 p.Pro742Leu
Uncertain significance
Single submitter
aplasia cutis congenita
- BMS1 p.Pro985Thr Uncertain significance Single submitter
- BMS1 p.Ser375Asn Uncertain significance Single submitter
- BMS1 p.Thr1040Ser Uncertain significance Single submitter
- BMS1 p.Thr119Met Uncertain significance Single submitter
- BMS1 p.Thr272Arg Uncertain significance Single submitter
- BMS1 p.Thr382Ser Uncertain significance Single submitter
- BMS1 p.Thr393Met Uncertain significance Single submitter
- BMS1 p.Thr424Ala Uncertain significance Single submitter
- BMS1 p.Thr424Ser Uncertain significance Single submitter
- BMS1 p.Thr760Ile Uncertain significance Single submitter
- BMS1 p.Trp931Cys Uncertain significance Single submitter
- BMS1 p.Tyr211His Uncertain significance Single submitter
- BMS1 p.Tyr283His Uncertain significance Single submitter
- BMS1 p.Tyr336Asn Uncertain significance Single submitter
- BMS1 p.Tyr905Phe Uncertain significance Single submitter
- BMS1 p.Val1104Ala Uncertain significance Single submitter
- BMS1 p.Val146Ile Uncertain significance Single submitter
- BMS1 p.Val150Ala Uncertain significance Single submitter
- BMS1 p.Val361Ile Uncertain significance Single submitter
- BMS1 p.Val739Leu Uncertain significance Single submitter
- BMS1 p.Val919Ile Uncertain significance Single submitter
Predictors split 82
The independent predictors disagree with each other — read with care.
- BMS1 p.Arg38Trp Benign/Likely benign Multiple submitters
- BMS1 p.Tyr283Cys Likely benign Multiple submitters
- BMS1 p.Ala1138Thr Uncertain significance Single submitter
- BMS1 p.Ala1169Asp Uncertain significance Single submitter
- BMS1 p.Ala1173Gly Uncertain significance Single submitter
- BMS1 p.Ala980Thr Uncertain significance Single submitter
- BMS1 p.Arg1007Gln Uncertain significance Single submitter
- BMS1 p.Arg1068Lys Uncertain significance Single submitter
- BMS1 p.Arg108Gln Uncertain significance Single submitter
- BMS1 p.Arg108Trp Uncertain significance Single submitter
- BMS1 p.Arg1130Trp Benign Single submitter
- BMS1 p.Arg115Gly Uncertain significance Single submitter
- BMS1 p.Arg1194Trp Uncertain significance Single submitter
- BMS1 p.Arg1200His Uncertain significance Single submitter
- BMS1 p.Arg126Cys Uncertain significance Single submitter
- BMS1 p.Arg126His Uncertain significance Single submitter
- BMS1 p.Arg271Gln Uncertain significance Single submitter
- BMS1 p.Arg278Gln Uncertain significance Single submitter
- BMS1 p.Arg391Gln Uncertain significance Single submitter
- BMS1 p.Arg428Cys Uncertain significance Single submitter
- BMS1 p.Arg428His Uncertain significance Single submitter
- BMS1 p.Arg429Gln Uncertain significance Single submitter
- BMS1 p.Arg486Trp Uncertain significance Single submitter
- BMS1 p.Arg52Gln Uncertain significance Single submitter
- BMS1 p.Arg52Trp Uncertain significance Single submitter
- BMS1 p.Arg55Gly Uncertain significance Single submitter
- BMS1 p.Arg755Gly Uncertain significance Single submitter
- BMS1 p.Arg863Cys Uncertain significance Single submitter
- BMS1 p.Arg863His Uncertain significance Single submitter
- BMS1 p.Arg887His Uncertain significance Single submitter
- BMS1 p.Asn329Ser Uncertain significance Single submitter
- BMS1 p.Asn918Asp Uncertain significance Single submitter
- BMS1 p.Asp309Gly Uncertain significance Single submitter
- BMS1 p.Asp700Asn Uncertain significance Single submitter
- BMS1 p.Asp756Gly Uncertain significance Single submitter
- BMS1 p.Asp776Gly Uncertain significance Single submitter
- BMS1 p.Asp816Asn Likely benign Single submitter
- BMS1 p.Asp850Tyr Uncertain significance Single submitter
- BMS1 p.Asp870Tyr Uncertain significance Single submitter
- BMS1 p.Cys276Arg Uncertain significance Single submitter
- BMS1 p.Gln172His Uncertain significance Single submitter
- BMS1 p.Gln61Glu Uncertain significance Single submitter
- BMS1 p.Gln989Arg Uncertain significance Single submitter
- BMS1 p.Gln997Lys Uncertain significance Single submitter
- BMS1 p.Glu1201Gln Uncertain significance Single submitter
- BMS1 p.Glu452Lys Uncertain significance Single submitter
- BMS1 p.Glu463Gly Uncertain significance Single submitter
- BMS1 p.Glu468Lys Uncertain significance Single submitter
- BMS1 p.Glu491Gln Uncertain significance Single submitter
- BMS1 p.Glu495Gln Uncertain significance Single submitter
- BMS1 p.Glu515Val Uncertain significance Single submitter
- BMS1 p.Glu610Val Uncertain significance Single submitter
- BMS1 p.Glu854Ala Uncertain significance Single submitter
- BMS1 p.Gly1140Asp Uncertain significance Single submitter
- BMS1 p.Gly1263Ala Uncertain significance Single submitter
- BMS1 p.Gly344Ala Uncertain significance Single submitter
- BMS1 p.Gly455Arg Likely benign Single submitter
- BMS1 p.His1218Leu Uncertain significance Single submitter
- BMS1 p.His1218Tyr Uncertain significance Single submitter
- BMS1 p.His975Tyr Uncertain significance Single submitter
- BMS1 p.Ile943Val Uncertain significance Single submitter
- BMS1 p.Leu1075Phe Uncertain significance Single submitter
- BMS1 p.Leu356Phe Uncertain significance Single submitter
- BMS1 p.Leu617Pro Uncertain significance Single submitter
- BMS1 p.Lys1242Glu Uncertain significance Single submitter
- BMS1 p.Lys20Asn Uncertain significance Single submitter
- BMS1 p.Lys275Arg Uncertain significance Single submitter
- BMS1 p.Lys386Arg Uncertain significance Single submitter
- BMS1 p.Met139Ile Uncertain significance Single submitter
- BMS1 p.Phe106Leu Conflicting Single submitter
- BMS1 p.Pro1103Ser Uncertain significance Single submitter
- BMS1 p.Pro314Gln Uncertain significance Single submitter
- BMS1 p.Pro882Ser Uncertain significance Single submitter
- BMS1 p.Pro955Leu Uncertain significance Single submitter
- BMS1 p.Thr164Ala Uncertain significance Single submitter
- BMS1 p.Thr198Ile Uncertain significance Single submitter
- BMS1 p.Thr661Met Uncertain significance Single submitter
- BMS1 p.Thr788Ala Uncertain significance Single submitter
- BMS1 p.Tyr255Cys Uncertain significance Single submitter
- BMS1 p.Val51Gly Uncertain significance Single submitter
- BMS1 p.Val84Ala Uncertain significance Single submitter
-
BMS1 p.Ala864Thr
Benign
No assertion criteria
BMS1-related disorder
All BMS1 variants
Pathogenic 1
- p.Arg930His No assertion criteria aplasia cutis congenita
Conflicting classifications of pathogenicity 3
- p.Asn799Ser Single submitter ⚠
- p.Ile942Val Single submitter ⚠
- p.Phe106Leu Single submitter ⚠
Benign 20
- p.Ala214Val Multiple submitters
- p.Ala500= Multiple submitters
- p.Arg237His Multiple submitters
- p.Arg863= Multiple submitters
- p.Asp768Asn Multiple submitters
- p.Ile942= Multiple submitters
- p.Ser552Pro Multiple submitters
- p.Thr661= Multiple submitters
- p.Ala1108= Single submitter
- p.Arg1130Trp Single submitter ⚠
- p.Arg560His Single submitter
- p.Gly440= Single submitter
- p.Ser558= Single submitter
- p.Val587Leu Single submitter
- p.Ala549Thr No assertion criteria BMS1-related disorder
- p.Ala864Thr No assertion criteria BMS1-related disorder ⚠
- p.Gln419Glu No assertion criteria BMS1-related disorder
- p.Lys399= No assertion criteria BMS1-related disorder
- p.Phe1047Leu No assertion criteria BMS1-related disorder
- p.Thr583= No assertion criteria BMS1-related disorder
Benign/Likely benign 1
- p.Arg38Trp Multiple submitters ⚠
Likely benign 36
- p.Glu1278= Multiple submitters
- p.Tyr283Cys Multiple submitters ⚠
- c.3132+9A>G Single submitter
- c.636+10G>T Single submitter
- c.779+9T>C Single submitter
- c.902-4C>T Single submitter
- p.Ala289= Single submitter
- p.Ala337= Single submitter
- p.Ala518= Single submitter
- p.Ala602Thr Single submitter
- p.Arg38= Single submitter
- p.Arg59= Single submitter
- p.Asn458= Single submitter
- p.Asp816Asn Single submitter ⚠
- p.Gln48= Single submitter
- p.Gly455Arg Single submitter ⚠
- p.His360= Single submitter
- p.Leu1254= Single submitter
- p.Leu257= Single submitter
- p.Lys1223= Single submitter
- p.Lys21= Single submitter
- p.Lys535= Single submitter
- p.Lys619Glu Single submitter
- p.Met412Leu Single submitter
- p.Met427Val Single submitter
- p.Thr1182= Single submitter
- p.Val1060Met Single submitter
- p.Val87Ala Single submitter
- c.3281-10C>T No assertion criteria BMS1-related disorder
- c.3457-14_3457-11del No assertion criteria BMS1-related disorder
- c.779+7T>A No assertion criteria BMS1-related disorder
- c.779+8A>G No assertion criteria BMS1-related disorder
- p.Ala980= No assertion criteria BMS1-related disorder
- p.Asp505= No assertion criteria BMS1-related disorder
- p.Gly781Cys No assertion criteria BMS1-related disorder
- p.Pro246Leu No assertion criteria BMS1-related disorder
Uncertain significance 177
- p.Ala1138Thr Single submitter ⚠
- p.Ala1169Asp Single submitter ⚠
- p.Ala1173Gly Single submitter ⚠
- p.Ala156Gly Single submitter ⚠
- p.Ala318Thr Single submitter ⚠
- p.Ala479Val Single submitter ⚠
- p.Ala542Thr Single submitter ⚠
- p.Ala685Val Single submitter ⚠
- p.Ala980Thr Single submitter ⚠
- p.Arg1007Gln Single submitter ⚠
- p.Arg1062Gln Single submitter ⚠
- p.Arg1068Lys Single submitter ⚠
- p.Arg1076Gln Single submitter ⚠
- p.Arg1083Thr Single submitter ⚠
- p.Arg108Gln Single submitter ⚠
- p.Arg108Trp Single submitter ⚠
- p.Arg1156Ser Single submitter ⚠
- p.Arg115Gly Single submitter ⚠
- p.Arg1193Lys Single submitter ⚠
- p.Arg1194Gln Single submitter ⚠
- p.Arg1194Trp Single submitter ⚠
- p.Arg1200His Single submitter ⚠
- p.Arg126Cys Single submitter ⚠
- p.Arg126His Single submitter ⚠
- p.Arg24Gln Single submitter ⚠
- p.Arg271Gln Single submitter ⚠
- p.Arg278Gln Single submitter ⚠
- p.Arg391Gln Single submitter ⚠
- p.Arg428Cys Single submitter ⚠
- p.Arg428His Single submitter ⚠
- p.Arg429Gln Single submitter ⚠
- p.Arg486Trp Single submitter ⚠
- p.Arg52Gln Single submitter ⚠
- p.Arg52Trp Single submitter ⚠
- p.Arg55Gly Single submitter ⚠
- p.Arg755Gly Single submitter ⚠
- p.Arg863Cys Single submitter ⚠
- p.Arg863His Single submitter ⚠
- p.Arg887His Single submitter ⚠
- p.Arg949Gly Single submitter ⚠
- p.Asn234Ser Single submitter ⚠
- p.Asn273Asp Single submitter ⚠
- p.Asn329Ser Single submitter ⚠
- p.Asn918Asp Single submitter ⚠
- p.Asp148His Single submitter ⚠
- p.Asp148Tyr Single submitter ⚠
- p.Asp187Asn Single submitter ⚠
- p.Asp309Gly Single submitter ⚠
- p.Asp405Gly Single submitter ⚠
- p.Asp454Glu Single submitter ⚠
- p.Asp462Gly Single submitter ⚠
- p.Asp578Asn Single submitter ⚠
- p.Asp657Asn Single submitter ⚠
- p.Asp700Asn Single submitter ⚠
- p.Asp746Gly Single submitter ⚠
- p.Asp756Gly Single submitter ⚠
- p.Asp776Gly Single submitter ⚠
- p.Asp827Glu Single submitter ⚠
- p.Asp850Tyr Single submitter ⚠
- p.Asp870Tyr Single submitter ⚠
- p.Asp871Asn Single submitter ⚠
- p.Cys276Arg Single submitter ⚠
- p.Cys895Phe Single submitter ⚠
- p.Cys895Tyr Single submitter ⚠
- p.Gln172His Single submitter ⚠
- p.Gln61Glu Single submitter ⚠
- p.Gln684Arg Single submitter ⚠
- p.Gln684Glu Single submitter ⚠
- p.Gln989Arg Single submitter ⚠
- p.Gln997Lys Single submitter ⚠
- p.Glu1201Gln Single submitter ⚠
- p.Glu1204Gly Single submitter ⚠
- p.Glu452Lys Single submitter ⚠
- p.Glu463Gly Single submitter ⚠
- p.Glu468Lys Single submitter ⚠
- p.Glu489Lys Single submitter ⚠
- p.Glu491Gln Single submitter ⚠
- p.Glu495Gln Single submitter ⚠
- p.Glu515Val Single submitter ⚠
- p.Glu534Gln Single submitter ⚠
- p.Glu564Asp Single submitter ⚠
- p.Glu604Asp Single submitter ⚠
- p.Glu605Asp Single submitter ⚠
- p.Glu610Val Single submitter ⚠
- p.Glu764Gln Single submitter ⚠
- p.Glu764Lys Single submitter ⚠
- p.Glu806Asp Single submitter ⚠
- p.Glu854Ala Single submitter ⚠
- p.Gly1140Asp Single submitter ⚠
- p.Gly1263Ala Single submitter ⚠
- p.Gly284Asp Single submitter ⚠
- p.Gly32Ala Single submitter ⚠
- p.Gly344Ala Single submitter ⚠
- p.Gly344Arg Single submitter ⚠
- p.Gly344Val Single submitter ⚠
- p.Gly434Arg Single submitter ⚠
- p.Gly516Val Single submitter ⚠
- p.Gly533Glu Single submitter ⚠
- p.Gly626Asp Single submitter ⚠
- p.Gly626Ser Single submitter ⚠
- p.Gly761Glu Single submitter ⚠
- p.Gly979Arg Single submitter ⚠
- p.His1165Arg Single submitter ⚠
- p.His1218Leu Single submitter ⚠
- p.His1218Tyr Single submitter ⚠
- p.His1236Tyr Single submitter ⚠
- p.His204Arg Single submitter ⚠
- p.His290Asn Single submitter ⚠
- p.His792Tyr Single submitter ⚠
- p.His975Tyr Single submitter ⚠
- p.Ile1166Val Single submitter ⚠
- p.Ile377Leu Single submitter ⚠
- p.Ile537Val Single submitter ⚠
- p.Ile805Met Single submitter ⚠
- p.Ile805Thr Single submitter ⚠
- p.Ile943Val Single submitter ⚠
- p.Leu1075Phe Single submitter ⚠
- p.Leu29Arg Single submitter ⚠
- p.Leu356Phe Single submitter ⚠
- p.Leu568Val Single submitter ⚠
- p.Leu617Pro Single submitter ⚠
- p.Leu629Pro Single submitter ⚠
- p.Leu732Val Single submitter aplasia cutis congenita ⚠
- p.Lys1242Glu Single submitter ⚠
- p.Lys20Asn Single submitter ⚠
- p.Lys275Arg Single submitter ⚠
- p.Lys349Thr Single submitter ⚠
- p.Lys386Arg Single submitter ⚠
- p.Lys666Arg Single submitter ⚠
- p.Lys67Glu Single submitter ⚠
- p.Lys823Glu Single submitter ⚠
- p.Met139Ile Single submitter ⚠
- p.Met299Ile Single submitter ⚠
- p.Met412Val Single submitter ⚠
- p.Met427Ile Single submitter ⚠
- p.Met478Thr Single submitter ⚠
- p.Phe1237Leu Single submitter ⚠
- p.Phe362Leu Single submitter ⚠
- p.Phe45Leu Single submitter ⚠
- p.Phe901Ser Single submitter ⚠
- p.Pro1103Ser Single submitter ⚠
- p.Pro1196Leu Single submitter ⚠
- p.Pro314Gln Single submitter ⚠
- p.Pro631Leu Single submitter ⚠
- p.Pro721Leu Single submitter ⚠
- p.Pro742Leu Single submitter aplasia cutis congenita ⚠
- p.Pro882Ser Single submitter ⚠
- p.Pro955Leu Single submitter ⚠
- p.Pro985Thr Single submitter ⚠
- p.Ser295fs Single submitter aplasia cutis congenita
- p.Ser375Asn Single submitter ⚠
- p.Thr1040Ser Single submitter ⚠
- p.Thr119Met Single submitter ⚠
- p.Thr164Ala Single submitter ⚠
- p.Thr198Ile Single submitter ⚠
- p.Thr272Arg Single submitter ⚠
- p.Thr382Ser Single submitter ⚠
- p.Thr393Met Single submitter ⚠
- p.Thr424Ala Single submitter ⚠
- p.Thr424Ser Single submitter ⚠
- p.Thr661Met Single submitter ⚠
- p.Thr760Ile Single submitter ⚠
- p.Thr788Ala Single submitter ⚠
- p.Trp931Cys Single submitter ⚠
- p.Tyr211His Single submitter ⚠
- p.Tyr255Cys Single submitter ⚠
- p.Tyr283His Single submitter ⚠
- p.Tyr336Asn Single submitter ⚠
- p.Tyr905Phe Single submitter ⚠
- p.Val1104Ala Single submitter ⚠
- p.Val146Ile Single submitter ⚠
- p.Val150Ala Single submitter ⚠
- p.Val361Ile Single submitter ⚠
- p.Val51Gly Single submitter ⚠
- p.Val739Leu Single submitter ⚠
- p.Val84Ala Single submitter ⚠
- p.Val919Ile Single submitter ⚠