SMARCC2 — 468 ClinVar variants
All ClinVar germline SMARCC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 274 flagged for review →
20 Pathogenic · 9 Pathogenic/Likely pathogenic · 34 Likely pathogenic · 11 Conflicting · 20 Benign · 1 Benign/Likely benign · 77 Likely benign · 296 Uncertain significance
Full SMARCC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 274
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 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
SMARCC2 p.Arg807Gln
Conflicting
Single submitter
Inborn genetic diseases
-
SMARCC2 p.Pro1073His
Conflicting
Single submitter
Inborn genetic diseases
-
SMARCC2 p.Pro1192Leu
Conflicting
Single submitter
Coffin-Siris syndrome 8
- SMARCC2 p.Val1071Phe Conflicting Single submitter
Predicted LoF vs a conflicting call 5
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
-
SMARCC2 c.1382+1G>A
Conflicting
Single submitter
Coffin-Siris syndrome 8
-
SMARCC2 p.Gln58Ter
Conflicting
Single submitter
intellectual disability
-
SMARCC2 p.Gly1075fs
Conflicting
Single submitter
SMARCC2-related disorder
-
SMARCC2 p.Pro1074fs
Conflicting
Single submitter
Coffin-Siris syndrome 8
-
SMARCC2 p.Tyr613Ter
Conflicting
Single submitter
Coffin-Siris syndrome 8
Predictors lean, ClinVar uncertain 191
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 191
-
SMARCC2 p.Ala1143Thr
Uncertain significance
Multiple submitters
Coffin-Siris syndrome 8
-
SMARCC2 p.Ala1198Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMARCC2 p.Asn351Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMARCC2 p.Gln1043His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMARCC2 p.Pro323Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMARCC2 p.Ser1000Phe
Uncertain significance
Multiple submitters
Coffin-Siris syndrome 8
-
SMARCC2 p.Ser1031Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMARCC2 p.Ser1090Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMARCC2 p.Ser89Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMARCC2 p.Thr214Ala
Uncertain significance
Multiple submitters
Coffin-Siris syndrome 8
- SMARCC2 p.Val201Ile Uncertain significance Multiple submitters
-
SMARCC2 p.Ala1020Pro
Uncertain significance
Single submitter
Coffin-Siris syndrome 8
-
SMARCC2 p.Ala1020Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCC2 p.Ala1095Val Uncertain significance Single submitter
-
SMARCC2 p.Ala1232Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCC2 p.Ala491Val Uncertain significance Single submitter
- SMARCC2 p.Ala745Ser Uncertain significance Single submitter
- SMARCC2 p.Ala790Val Uncertain significance Single submitter
-
SMARCC2 p.Ala817Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMARCC2 p.Ala86Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMARCC2 p.Arg107Gln
Uncertain significance
Single submitter
Coffin-Siris syndrome 8
- SMARCC2 p.Arg107Trp Uncertain significance Single submitter
-
SMARCC2 p.Arg116Cys
Uncertain significance
Single submitter
Coffin-Siris syndrome 8
- SMARCC2 p.Arg119Cys Uncertain significance Single submitter
- SMARCC2 p.Arg268His Uncertain significance Single submitter
- SMARCC2 p.Arg444Gly Uncertain significance Single submitter
-
SMARCC2 p.Arg466Pro
Uncertain significance
Single submitter
Coffin-Siris syndrome 1
-
SMARCC2 p.Arg499Lys
Uncertain significance
Single submitter
Coffin-Siris syndrome 8
- SMARCC2 p.Arg630His Uncertain significance Single submitter
- SMARCC2 p.Arg748Gln Uncertain significance Single submitter
-
SMARCC2 p.Arg882Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCC2 p.Arg978Trp Uncertain significance Single submitter
-
SMARCC2 p.Asn172Lys
Uncertain significance
Single submitter
SMARCC2-related disorder
-
SMARCC2 p.Asn173Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMARCC2 p.Asn173Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMARCC2 p.Asn264Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMARCC2 p.Asn295Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMARCC2 p.Asn351Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMARCC2 p.Asn398Thr
Uncertain significance
Single submitter
Coffin-Siris syndrome 8
- SMARCC2 p.Asn454Asp Uncertain significance Single submitter
-
SMARCC2 p.Asn46Ser
Uncertain significance
Single submitter
Coffin-Siris syndrome 8
- SMARCC2 p.Asp170Tyr Uncertain significance Single submitter
- SMARCC2 p.Asp246Asn Uncertain significance Single submitter
- SMARCC2 p.Asp338Ala Uncertain significance Single submitter
-
SMARCC2 p.Asp394Val
Uncertain significance
Single submitter
Coffin-Siris syndrome 8
- SMARCC2 p.Asp493Val Uncertain significance Single submitter
-
SMARCC2 p.Asp602Gly
Uncertain significance
Single submitter
Coffin-Siris syndrome 8
- SMARCC2 p.Asp649Gly Uncertain significance Single submitter
-
SMARCC2 p.Asp788Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMARCC2 p.Asp847Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCC2 p.Cys136Trp Uncertain significance Single submitter
-
SMARCC2 p.Cys145Ser
Uncertain significance
Single submitter
Coffin-Siris syndrome 8
- SMARCC2 p.Cys486Tyr Uncertain significance Single submitter
- SMARCC2 p.Gln383Arg Uncertain significance Single submitter
- SMARCC2 p.Gln420His Uncertain significance Single submitter
-
SMARCC2 p.Gln990Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMARCC2 p.Glu147Asp
Uncertain significance
Single submitter
SMARCC2-related neurodevelopmental disorder
- SMARCC2 p.Glu149Asp Uncertain significance Single submitter
- SMARCC2 p.Glu250Lys Uncertain significance Single submitter
- SMARCC2 p.Glu631Asp Uncertain significance Single submitter
- SMARCC2 p.Glu752Ala Uncertain significance Single submitter
-
SMARCC2 p.Glu778Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCC2 p.Glu780Asp Uncertain significance Single submitter
-
SMARCC2 p.Glu789Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCC2 p.Glu814Gln Uncertain significance Single submitter
- SMARCC2 p.Glu814Gly Uncertain significance Single submitter
- SMARCC2 p.Glu819Asp Uncertain significance Single submitter
-
SMARCC2 p.Glu823Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCC2 p.Glu857Asp Uncertain significance Single submitter
-
SMARCC2 p.Gly1075Val
Uncertain significance
Single submitter
Coffin-Siris syndrome 8
-
SMARCC2 p.Gly1078Ser
Uncertain significance
Single submitter
Coffin-Siris syndrome 8
- SMARCC2 p.Gly1131Ala Uncertain significance Single submitter
-
SMARCC2 p.Gly1210Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCC2 p.Gly319Ser Uncertain significance Single submitter
- SMARCC2 p.Gly492Val Uncertain significance Single submitter
- SMARCC2 p.Gly607Ala Uncertain significance Single submitter
-
SMARCC2 p.Gly811Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCC2 p.Gly846Arg Uncertain significance Single submitter
-
SMARCC2 p.Gly874Arg
Uncertain significance
Single submitter
Coffin-Siris syndrome 8
- SMARCC2 p.His1175Arg Uncertain significance Single submitter
- SMARCC2 p.His163Pro Uncertain significance Single submitter
- SMARCC2 p.His331Arg Uncertain significance Single submitter
-
SMARCC2 p.His669Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMARCC2 p.His986Asn
Uncertain significance
Single submitter
SMARCC2-related disorder
-
SMARCC2 p.Ile1003Asn
Uncertain significance
Single submitter
SMARCC2-related neurodevelopmental disorder
- SMARCC2 p.Ile216Leu Uncertain significance Single submitter
-
SMARCC2 p.Ile39Val
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCC2 p.Ile470Thr Uncertain significance Single submitter
-
SMARCC2 p.Ile849Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMARCC2 p.Ile849Val
Uncertain significance
Single submitter
Coffin-Siris syndrome 8
- SMARCC2 p.Leu1188Phe Uncertain significance Single submitter
- SMARCC2 p.Leu446Val Uncertain significance Single submitter
- SMARCC2 p.Leu640Phe Uncertain significance Single submitter
-
SMARCC2 p.Leu711Pro
Uncertain significance
Single submitter
Coffin-Siris syndrome 8
-
SMARCC2 p.Leu728Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCC2 p.Leu922Pro Uncertain significance Single submitter
-
SMARCC2 p.Lys171Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCC2 p.Lys408Arg Uncertain significance Single submitter
- SMARCC2 p.Lys5Arg Uncertain significance Single submitter
-
SMARCC2 p.Lys735Arg
Uncertain significance
Single submitter
Coffin-Siris syndrome 8
-
SMARCC2 p.Lys759Arg
Uncertain significance
Single submitter
Coffin-Siris syndrome 8
-
SMARCC2 p.Lys79Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMARCC2 p.Met1092Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCC2 p.Met1170Val Uncertain significance Single submitter
-
SMARCC2 p.Met343Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMARCC2 p.Met388Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCC2 p.Met469Thr Uncertain significance Single submitter
-
SMARCC2 p.Met603Val
Uncertain significance
Single submitter
Coffin-Siris syndrome 8
- SMARCC2 p.Met646Val Uncertain significance Single submitter
-
SMARCC2 p.Met705Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCC2 p.Met927Ile Uncertain significance Single submitter
-
SMARCC2 p.Met944Val
Uncertain significance
Single submitter
SMARCC2-related disorder
-
SMARCC2 p.Met985Val
Uncertain significance
Single submitter
Coffin-Siris syndrome 8
- SMARCC2 p.Phe1130Val Uncertain significance Single submitter
- SMARCC2 p.Phe124Val Uncertain significance Single submitter
-
SMARCC2 p.Phe468Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCC2 p.Phe606Ser Uncertain significance Single submitter
- SMARCC2 p.Phe84Val Uncertain significance Single submitter
-
SMARCC2 p.Pro1005Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCC2 p.Pro1021Ala Uncertain significance Single submitter
-
SMARCC2 p.Pro1026Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMARCC2 p.Pro1034Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCC2 p.Pro1064Ser Uncertain significance Single submitter
-
SMARCC2 p.Pro1073Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMARCC2 p.Pro1074Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMARCC2 p.Pro1081Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCC2 p.Pro1093Ser Uncertain significance Single submitter
-
SMARCC2 p.Pro1117Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCC2 p.Pro1122Ser Uncertain significance Single submitter
-
SMARCC2 p.Pro1129Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMARCC2 p.Pro1155Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMARCC2 p.Pro1163Gln
Uncertain significance
Single submitter
Coffin-Siris syndrome 8
- SMARCC2 p.Pro1163Ser Uncertain significance Single submitter
-
SMARCC2 p.Pro1167Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMARCC2 p.Pro1173Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMARCC2 p.Pro1176Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMARCC2 p.Pro1185Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMARCC2 p.Pro1222Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCC2 p.Pro1230Arg Uncertain significance Single submitter
-
SMARCC2 p.Pro1230Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCC2 p.Pro231Ser Uncertain significance Single submitter
-
SMARCC2 p.Pro309Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCC2 p.Pro320Leu Uncertain significance Single submitter
- SMARCC2 p.Pro477Ser Uncertain significance Single submitter
- SMARCC2 p.Pro520Arg Uncertain significance Single submitter
-
SMARCC2 p.Pro525Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCC2 p.Pro549Leu Uncertain significance Single submitter
- SMARCC2 p.Pro619Leu Uncertain significance Single submitter
-
SMARCC2 p.Pro619Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCC2 p.Pro689His Uncertain significance Single submitter
Predictors split 74
The independent predictors disagree with each other — read with care.
-
SMARCC2 p.Ala1033Asp
Uncertain significance
Multiple submitters
Coffin-Siris syndrome 8
-
SMARCC2 p.Arg288Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMARCC2 p.Ile159Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMARCC2 p.Pro1121Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMARCC2 p.Pro305His
Uncertain significance
Multiple submitters
Coffin-Siris syndrome 8
-
SMARCC2 p.Val3Ala
Uncertain significance
Multiple submitters
Coffin-Siris syndrome 8
-
SMARCC2 p.Ala430Thr
Likely benign
Single submitter
Inborn genetic diseases
- SMARCC2 p.Ala485Val Uncertain significance Single submitter
- SMARCC2 p.Ala626Val Uncertain significance Single submitter
- SMARCC2 p.Ala898Val Uncertain significance Single submitter
- SMARCC2 p.Ala901Ser Uncertain significance Single submitter
-
SMARCC2 p.Arg329Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCC2 p.Arg329His Uncertain significance Single submitter
-
SMARCC2 p.Arg791Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMARCC2 p.Arg882Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMARCC2 p.Arg882Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMARCC2 p.Arg946Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCC2 p.Asn351Asp Uncertain significance Single submitter
- SMARCC2 p.Asn351Lys Uncertain significance Single submitter
-
SMARCC2 p.Asp19Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCC2 p.Asp213Asn Uncertain significance Single submitter
- SMARCC2 p.Cys145Trp Uncertain significance Single submitter
- SMARCC2 p.Gln987Lys Uncertain significance Single submitter
- SMARCC2 p.Glu128Asp Uncertain significance Single submitter
- SMARCC2 p.Glu333Val Uncertain significance Single submitter
-
SMARCC2 p.Glu353Val
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCC2 p.Glu382Gly Uncertain significance Single submitter
- SMARCC2 p.Glu42Asp Uncertain significance Single submitter
- SMARCC2 p.Glu736Lys Uncertain significance Single submitter
-
SMARCC2 p.Glu886Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMARCC2 p.Glu924Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCC2 p.Gly1191Arg Uncertain significance Single submitter
-
SMARCC2 p.Gly1195Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCC2 p.Gly154Glu Uncertain significance Single submitter
-
SMARCC2 p.Gly375Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCC2 p.Gly88Ser Likely pathogenic Single submitter
-
SMARCC2 p.His67Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCC2 p.Ile78Asn Uncertain significance Single submitter
- SMARCC2 p.Ile932Met Uncertain significance Single submitter
- SMARCC2 p.Leu277Pro Uncertain significance Single submitter
- SMARCC2 p.Leu339Pro Uncertain significance Single submitter
-
SMARCC2 p.Leu357Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCC2 p.Leu380Pro Uncertain significance Single submitter
- SMARCC2 p.Leu907Phe Uncertain significance Single submitter
- SMARCC2 p.Leu959Val Uncertain significance Single submitter
-
SMARCC2 p.Lys129Glu
Likely pathogenic
Single submitter
Coffin-Siris syndrome 8
- SMARCC2 p.Lys151Asn Uncertain significance Single submitter
-
SMARCC2 p.Lys236Asn
Uncertain significance
Single submitter
Coffin-Siris syndrome 8
- SMARCC2 p.Lys292Asn Uncertain significance Single submitter
- SMARCC2 p.Lys341Met Uncertain significance Single submitter
- SMARCC2 p.Lys5Gln Uncertain significance Single submitter
- SMARCC2 p.Lys653Asn Uncertain significance Single submitter
- SMARCC2 p.Lys6Asn Uncertain significance Single submitter
- SMARCC2 p.Met117Ile Uncertain significance Single submitter
-
SMARCC2 p.Met123Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCC2 p.Met377Lys Uncertain significance Single submitter
-
SMARCC2 p.Met975Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCC2 p.Phe606Leu Uncertain significance Single submitter
- SMARCC2 p.Phe731Leu Uncertain significance Single submitter
- SMARCC2 p.Phe84Leu Uncertain significance Single submitter
-
SMARCC2 p.Pro1083Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCC2 p.Pro1176Arg Uncertain significance Single submitter
- SMARCC2 p.Pro182Leu Likely benign Single submitter
-
SMARCC2 p.Pro234Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCC2 p.Pro346Ser Uncertain significance Single submitter
- SMARCC2 p.Pro348Leu Uncertain significance Single submitter
- SMARCC2 p.Ser102Arg Uncertain significance Single submitter
- SMARCC2 p.Thr278Pro Uncertain significance Single submitter
- SMARCC2 p.Tyr324His Likely benign Single submitter
-
SMARCC2 p.Val1071Asp
Uncertain significance
Single submitter
Coffin-Siris syndrome 8
- SMARCC2 p.Val201Phe Uncertain significance Single submitter
-
SMARCC2 p.Val355Leu
Uncertain significance
Single submitter
SMARCC2-related disorder
-
SMARCC2 p.Val53Ala
Uncertain significance
Single submitter
Coffin-Siris syndrome 8
-
SMARCC2 p.Lys408Asn
Uncertain significance
No assertion criteria
SMARCC2-related disorder
All SMARCC2 variants
Pathogenic 20
- p.Gln1054Ter Multiple submitters Inborn genetic diseases
- c.1496+1G>T Single submitter Coffin-Siris syndrome 8
- c.2412+1G>C Single submitter
- c.956+1G>T Single submitter
- p.Ala496fs Single submitter
- p.Arg519Ter Single submitter
- p.Arg807Ter Single submitter
- p.Gln1063fs Single submitter
- p.Gln55Ter Single submitter
- p.Glu368fs Single submitter Coffin-Siris syndrome 8
- p.Ile1128fs Single submitter Coffin-Siris syndrome 8
- p.Leu640Pro Single submitter SMARCC2-related BAFopathy
- p.Leu641Pro Single submitter Coffin-Siris syndrome 8
- p.Lys364fs Single submitter Coffin-Siris syndrome 8
- p.Lys653fs Single submitter
- p.Lys929fs Single submitter
- p.Ser304fs Single submitter
- p.Thr340fs Single submitter
- p.Met927Val No assertion criteria Coffin-Siris syndrome 8
- p.Trp241Ter No assertion criteria Coffin-Siris syndrome 8
Pathogenic/Likely pathogenic 9
- c.1311-3C>G Multiple submitters Coffin-Siris syndrome 8
- c.1926+1G>A Multiple submitters SMARCC2-related disorder
- c.1926+1G>T Multiple submitters Coffin-Siris syndrome 8
- c.1926+2T>C Multiple submitters Coffin-Siris syndrome 8
- p.Arg192Ter Multiple submitters Coffin-Siris syndrome 8
- p.Arg269Ter Multiple submitters Coffin-Siris syndrome 8
- p.Arg474Ter Multiple submitters Coffin-Siris syndrome 8
- p.Lys365fs Multiple submitters Coffin-Siris syndrome 8
- p.Tyr109Ter Multiple submitters Neurodevelopmental delay
Likely pathogenic 34
- p.Arg116His Multiple submitters intellectual disability
- p.Glu924Gly Multiple submitters Coffin-Siris syndrome 8
- p.Pro77Leu Multiple submitters neurodevelopmental disorder
- c.112-1G>A Single submitter Inborn genetic diseases
- c.1310+1G>T Single submitter Coffin-Siris syndrome 8
- c.1496+2T>G Single submitter Coffin-Siris syndrome 8
- c.1497-2A>G Single submitter Coffin-Siris syndrome 8
- c.1863+2T>C Single submitter
- c.1864-1G>C Single submitter
- c.2186-3C>G Single submitter Coffin-Siris syndrome 8
- c.231+1G>T Single submitter Coffin-Siris syndrome 1
- c.2538_2548+1del Single submitter Coffin-Siris syndrome 8
- c.2549-2A>G Single submitter Coffin-Siris syndrome 1
- c.840+1G>T Single submitter
- p.Ala727Asp Single submitter SMARCC2-related disorder
- p.Arg466Ter Single submitter Coffin-Siris syndrome 8
- p.Gln133Ter Single submitter Coffin-Siris syndrome 8
- p.Glu448fs Single submitter Coffin-Siris syndrome 8
- p.Glu802Ter Single submitter Coffin-Siris syndrome 8
- p.Glu931Lys Single submitter Coffin-Siris syndrome 8
- p.Gly1070_Val1071insLys Single submitter
- p.Gly294fs Single submitter SMARCC2-related BAFopathy
- p.Gly88Ser Single submitter ⚠
- p.Leu490Pro Single submitter Inborn genetic diseases
- p.Leu641del Single submitter SMARCC2-related disorder
- p.Lys129Glu Single submitter Coffin-Siris syndrome 8 ⚠
- p.Lys916Glu Single submitter Coffin-Siris syndrome 8
- p.Thr482fs Single submitter SMARCC2-related disorder
- p.Thr797_Asp798insTer Single submitter
- p.Tyr212Ter Single submitter SMARCC2-related disorder
- p.Tyr257Ter Single submitter SMARCC2-related disorder
- p.Tyr296_Lys297delinsTer Single submitter SMARCC2-related BAFopathy
- p.Val27fs Single submitter Coffin-Siris syndrome 8
- p.Val658Leu Single submitter
Conflicting classifications of pathogenicity 11
- c.1382+1G>A Single submitter Coffin-Siris syndrome 8 ⚠
- p.Arg807Gln Single submitter Inborn genetic diseases ⚠
- p.Asn451= Single submitter
- p.Gln58Ter Single submitter intellectual disability ⚠
- p.Glu642= Single submitter Coffin-Siris syndrome 8
- p.Gly1075fs Single submitter SMARCC2-related disorder ⚠
- p.Pro1073His Single submitter Inborn genetic diseases ⚠
- p.Pro1074fs Single submitter Coffin-Siris syndrome 8 ⚠
- p.Pro1192Leu Single submitter Coffin-Siris syndrome 8 ⚠
- p.Tyr613Ter Single submitter Coffin-Siris syndrome 8 ⚠
- p.Val1071Phe Single submitter ⚠
Benign 20
- c.1311-77C>G Multiple submitters
- c.2185+123A>G Multiple submitters
- c.2185+71A>C Multiple submitters
- c.3662-39C>T Multiple submitters
- c.708+46A>C Multiple submitters Coffin-Siris syndrome 8
- c.956+78C>T Multiple submitters
- p.Ala894= Multiple submitters
- p.Pro146= Multiple submitters
- c.1082-14C>G Single submitter
- c.2348-68_2348-65del Single submitter
- c.2850+149GT[14] Single submitter
- c.2850+149GT[17] Single submitter
- c.2850+149GT[19] Single submitter
- c.2850+61GT[21] Single submitter
- c.2850+61GT[22] Single submitter
- c.2850+61GT[23] Single submitter
- c.2850+61GT[25] Single submitter
- c.2850+61GT[26] Single submitter
- c.2850+61GT[27] Single submitter
- p.Ser785Cys Single submitter Coffin-Siris syndrome 8
Benign/Likely benign 1
- p.Glu386= Multiple submitters
Likely benign 77
- c.1082-4G>A Multiple submitters
- c.2716-4C>G Multiple submitters
- p.Ala1197= Multiple submitters
- p.Ala960= Multiple submitters
- p.Ala973= Multiple submitters
- p.Glu819Gly Multiple submitters Inborn genetic diseases
- p.Leu1133Val Multiple submitters Inborn genetic diseases
- p.Pro1074Thr Multiple submitters Inborn genetic diseases
- p.Pro1089Ser Multiple submitters Inborn genetic diseases
- p.Pro1144Ala Multiple submitters Inborn genetic diseases
- p.Pro1233= Multiple submitters
- c.1081+5A>C Single submitter
- c.1310+18T>G Single submitter
- c.1311-11T>G Single submitter
- c.1383-12C>G Single submitter
- c.1863+16C>T Single submitter
- c.2413-9G>C Single submitter
- c.3233-3C>T Single submitter
- c.400-17A>G Single submitter
- c.492+7G>T Single submitter
- p.Ala1061Val Single submitter
- p.Ala1134Val Single submitter
- p.Ala1171= Single submitter
- p.Ala316Thr Single submitter Inborn genetic diseases
- p.Ala430Thr Single submitter Inborn genetic diseases ⚠
- p.Ala760Val Single submitter
- p.Ala892= Single submitter
- p.Ala97= Single submitter
- p.Arg235= Single submitter
- p.Arg487= Single submitter
- p.Asn264Ser Single submitter
- p.Asn476= Single submitter
- p.Asp344= Single submitter
- p.Asp664= Single submitter
- p.Asp836Asn Single submitter
- p.Gly404= Single submitter
- p.Gly999= Single submitter
- p.Ile461= Single submitter Inborn genetic diseases
- p.Ile78Met Single submitter Inborn genetic diseases
- p.Leu144= Single submitter
- p.Leu339Val Single submitter
- p.Leu504= Single submitter
- p.Lys292= Single submitter
- p.Met1091Val Single submitter Inborn genetic diseases
- p.Phe1156= Single submitter
- p.Pro1073= Single submitter Inborn genetic diseases
- p.Pro1073Leu Single submitter Inborn genetic diseases
- p.Pro1074= Single submitter
- p.Pro1076Ser Single submitter Inborn genetic diseases
- p.Pro1117= Single submitter
- p.Pro1118= Single submitter
- p.Pro1189= Single submitter
- p.Pro1225= Single submitter
- p.Pro182Leu Single submitter ⚠
- p.Pro447= Single submitter
- p.Pro674= Single submitter
- p.Pro997Leu Single submitter Inborn genetic diseases
- p.Ser115= Single submitter
- p.Ser483= Single submitter
- p.Ser776Phe Single submitter
- p.Ser841= Single submitter
- p.Thr1237= Single submitter
- p.Thr276= Single submitter
- p.Thr400Met Single submitter Inborn genetic diseases
- p.Tyr109= Single submitter
- p.Tyr324His Single submitter ⚠
- p.Val1019Met Single submitter Inborn genetic diseases
- p.Val181= Single submitter
- p.Val542= Single submitter
- p.Val719= Single submitter
- c.1650+9A>T No assertion criteria SMARCC2-related disorder
- c.492+5A>G No assertion criteria SMARCC2-related disorder
- p.Arg289= No assertion criteria SMARCC2-related disorder
- p.Gly835= No assertion criteria SMARCC2-related disorder
- p.Pro1163Ala No assertion criteria SMARCC2-related disorder
- p.Pro858= No assertion criteria SMARCC2-related disorder
- p.Ser321Leu No assertion criteria SMARCC2-related disorder
Uncertain significance 296
- p.Ala1033Asp Multiple submitters Coffin-Siris syndrome 8 ⚠
- p.Ala1143Thr Multiple submitters Coffin-Siris syndrome 8 ⚠
- p.Ala1198Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg288Gln Multiple submitters Inborn genetic diseases ⚠
- p.Asn351Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gln1043His Multiple submitters Inborn genetic diseases ⚠
- p.Ile159Val Multiple submitters Inborn genetic diseases ⚠
- p.Pro1121Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro305His Multiple submitters Coffin-Siris syndrome 8 ⚠
- p.Pro323Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ser1000Phe Multiple submitters Coffin-Siris syndrome 8 ⚠
- p.Ser1031Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser1090Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser89Cys Multiple submitters Inborn genetic diseases ⚠
- p.Thr214Ala Multiple submitters Coffin-Siris syndrome 8 ⚠
- p.Val201Ile Multiple submitters ⚠
- p.Val3Ala Multiple submitters Coffin-Siris syndrome 8 ⚠
- c.1081+70A>G Single submitter Coffin-Siris syndrome 8
- c.1142-1G>C Single submitter Coffin-Siris syndrome 8
- c.1179+21C>T Single submitter Coffin-Siris syndrome 8
- c.1651-2A>G Single submitter Coffin-Siris syndrome 8
- c.1744-2A>G Single submitter Coffin-Siris syndrome 8
- c.2348-15_2348-11del Single submitter
- c.2716-3del Single submitter Coffin-Siris syndrome 8
- c.2850+4A>G Single submitter
- c.3232+3A>G Single submitter
- c.633-14A>G Single submitter Inborn genetic diseases
- c.955_956+6dup Single submitter
- c.-3A>G Single submitter
- p.Ala1020Pro Single submitter Coffin-Siris syndrome 8 ⚠
- p.Ala1020Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1095_Val1096insMetProGlyAla Single submitter
- p.Ala1095Val Single submitter ⚠
- p.Ala1124= Single submitter
- p.Ala1232Thr Single submitter Inborn genetic diseases ⚠
- p.Ala485Val Single submitter ⚠
- p.Ala491Val Single submitter ⚠
- p.Ala626Val Single submitter ⚠
- p.Ala745Ser Single submitter ⚠
- p.Ala790Val Single submitter ⚠
- p.Ala817Pro Single submitter Inborn genetic diseases ⚠
- p.Ala86Val Single submitter Inborn genetic diseases ⚠
- p.Ala898Val Single submitter ⚠
- p.Ala901_Val902insLeuAlaAlaAlaAla Single submitter
- p.Ala901Ser Single submitter ⚠
- p.Arg107Gln Single submitter Coffin-Siris syndrome 8 ⚠
- p.Arg107Trp Single submitter ⚠
- p.Arg116Cys Single submitter Coffin-Siris syndrome 8 ⚠
- p.Arg119Cys Single submitter ⚠
- p.Arg268His Single submitter ⚠
- p.Arg329Cys Single submitter Inborn genetic diseases ⚠
- p.Arg329His Single submitter ⚠
- p.Arg444Gly Single submitter ⚠
- p.Arg466Pro Single submitter Coffin-Siris syndrome 1 ⚠
- p.Arg488Ter Single submitter Coffin-Siris syndrome 8
- p.Arg499Lys Single submitter Coffin-Siris syndrome 8 ⚠
- p.Arg552Cys Single submitter
- p.Arg630His Single submitter ⚠
- p.Arg748Gln Single submitter ⚠
- p.Arg791Trp Single submitter Inborn genetic diseases ⚠
- p.Arg882Gln Single submitter Inborn genetic diseases ⚠
- p.Arg882Gly Single submitter Inborn genetic diseases ⚠
- p.Arg882Trp Single submitter Inborn genetic diseases ⚠
- p.Arg946Gln Single submitter Inborn genetic diseases ⚠
- p.Arg978Trp Single submitter ⚠
- p.Asn172Lys Single submitter SMARCC2-related disorder ⚠
- p.Asn173Asp Single submitter Inborn genetic diseases ⚠
- p.Asn173Ser Single submitter Inborn genetic diseases ⚠
- p.Asn264Thr Single submitter Inborn genetic diseases ⚠
- p.Asn295Ser Single submitter Inborn genetic diseases ⚠
- p.Asn351Asp Single submitter ⚠
- p.Asn351Lys Single submitter ⚠
- p.Asn351Thr Single submitter Inborn genetic diseases ⚠
- p.Asn398del Single submitter
- p.Asn398Thr Single submitter Coffin-Siris syndrome 8 ⚠
- p.Asn454Asp Single submitter ⚠
- p.Asn46del Single submitter
- p.Asn46Ser Single submitter Coffin-Siris syndrome 8 ⚠
- p.Asp170Tyr Single submitter ⚠
- p.Asp19Ala Single submitter Inborn genetic diseases ⚠
- p.Asp213Asn Single submitter ⚠
- p.Asp246Asn Single submitter ⚠
- p.Asp338Ala Single submitter ⚠
- p.Asp394Val Single submitter Coffin-Siris syndrome 8 ⚠
- p.Asp493Val Single submitter ⚠
- p.Asp602Gly Single submitter Coffin-Siris syndrome 8 ⚠
- p.Asp649Gly Single submitter ⚠
- p.Asp788Glu Single submitter Inborn genetic diseases ⚠
- p.Asp847Asn Single submitter Inborn genetic diseases ⚠
- p.Cys136Trp Single submitter ⚠
- p.Cys145Ser Single submitter Coffin-Siris syndrome 8 ⚠
- p.Cys145Trp Single submitter ⚠
- p.Cys486Tyr Single submitter ⚠
- p.Cys80Ser Single submitter
- p.Gln1057_Pro1058insGln Single submitter
- p.Gln133= Single submitter
- p.Gln383Arg Single submitter ⚠
- p.Gln420His Single submitter ⚠
- p.Gln506Ter Single submitter neurodevelopmental disorder
- p.Gln553fs Single submitter
- p.Gln604Lys Single submitter
- p.Gln987Lys Single submitter ⚠
- p.Gln990Pro Single submitter Inborn genetic diseases ⚠
- p.Glu128Asp Single submitter ⚠
- p.Glu147Asp Single submitter SMARCC2-related neurodevelopmental disorder ⚠
- p.Glu149Asp Single submitter ⚠
- p.Glu250Lys Single submitter ⚠
- p.Glu333Val Single submitter ⚠
- p.Glu353Val Single submitter Inborn genetic diseases ⚠
- p.Glu382Gly Single submitter ⚠
- p.Glu42Asp Single submitter ⚠
- p.Glu631Asp Single submitter ⚠
- p.Glu736Lys Single submitter ⚠
- p.Glu752Ala Single submitter ⚠
- p.Glu778Lys Single submitter Inborn genetic diseases ⚠
- p.Glu780Asp Single submitter ⚠
- p.Glu789Lys Single submitter Inborn genetic diseases ⚠
- p.Glu814Gln Single submitter ⚠
- p.Glu814Gly Single submitter ⚠
- p.Glu819Asp Single submitter ⚠
- p.Glu823Lys Single submitter Inborn genetic diseases ⚠
- p.Glu855del Single submitter
- p.Glu857Asp Single submitter ⚠
- p.Glu871del Single submitter
- p.Glu886Val Single submitter Inborn genetic diseases ⚠
- p.Glu924Asp Single submitter Inborn genetic diseases ⚠
- p.Gly1075Val Single submitter Coffin-Siris syndrome 8 ⚠
- p.Gly1078= Single submitter
- p.Gly1078Ser Single submitter Coffin-Siris syndrome 8 ⚠
- p.Gly1131Ala Single submitter ⚠
- p.Gly1191Arg Single submitter ⚠
- p.Gly1195Arg Single submitter Inborn genetic diseases ⚠
- p.Gly1210Asp Single submitter Inborn genetic diseases ⚠
- p.Gly154Glu Single submitter ⚠
- p.Gly319Ser Single submitter ⚠
- p.Gly375Ser Single submitter Inborn genetic diseases ⚠
- p.Gly492Val Single submitter ⚠
- p.Gly551Asp Single submitter Coffin-Siris syndrome 8
- p.Gly564Val Single submitter
- p.Gly607Ala Single submitter ⚠
- p.Gly811Ser Single submitter Inborn genetic diseases ⚠
- p.Gly846Arg Single submitter ⚠
- p.Gly874Arg Single submitter Coffin-Siris syndrome 8 ⚠
- p.His1175Arg Single submitter ⚠
- p.His163Pro Single submitter ⚠
- p.His331Arg Single submitter ⚠
- p.His669Pro Single submitter Inborn genetic diseases ⚠
- p.His67Asp Single submitter Inborn genetic diseases ⚠
- p.His986Asn Single submitter SMARCC2-related disorder ⚠
- p.Ile1003Asn Single submitter SMARCC2-related neurodevelopmental disorder ⚠
- p.Ile216Leu Single submitter ⚠
- p.Ile39Val Single submitter Inborn genetic diseases ⚠
- p.Ile470Thr Single submitter ⚠
- p.Ile78Asn Single submitter ⚠
- p.Ile849Thr Single submitter Inborn genetic diseases ⚠
- p.Ile849Val Single submitter Coffin-Siris syndrome 8 ⚠
- p.Ile932Met Single submitter ⚠
- p.Leu1188Phe Single submitter ⚠
- p.Leu1226fs Single submitter
- p.Leu277Pro Single submitter ⚠
- p.Leu339Pro Single submitter ⚠
- p.Leu357Pro Single submitter Inborn genetic diseases ⚠
- p.Leu380Pro Single submitter ⚠
- p.Leu446Val Single submitter ⚠
- p.Leu640Phe Single submitter ⚠
- p.Leu711Pro Single submitter Coffin-Siris syndrome 8 ⚠
- p.Leu728Pro Single submitter Inborn genetic diseases ⚠
- p.Leu897_Ala900del Single submitter
- p.Leu907Phe Single submitter ⚠
- p.Leu922Pro Single submitter ⚠
- p.Leu959Val Single submitter ⚠
- p.Lys151Asn Single submitter ⚠
- p.Lys171Arg Single submitter Inborn genetic diseases ⚠
- p.Lys236Asn Single submitter Coffin-Siris syndrome 8 ⚠
- p.Lys292Asn Single submitter ⚠
- p.Lys341Met Single submitter ⚠
- p.Lys408Arg Single submitter ⚠
- p.Lys5Arg Single submitter ⚠
- p.Lys5Gln Single submitter ⚠
- p.Lys653Asn Single submitter ⚠
- p.Lys6Asn Single submitter ⚠
- p.Lys735Arg Single submitter Coffin-Siris syndrome 8 ⚠
- p.Lys759Arg Single submitter Coffin-Siris syndrome 8 ⚠
- p.Lys79Arg Single submitter Inborn genetic diseases ⚠
- p.Met1092Leu Single submitter Inborn genetic diseases ⚠
- p.Met1170Val Single submitter ⚠
- p.Met117Ile Single submitter ⚠
- p.Met123Leu Single submitter Inborn genetic diseases ⚠
- p.Met343Val Single submitter Inborn genetic diseases ⚠
- p.Met377Lys Single submitter ⚠
- p.Met388Ile Single submitter Inborn genetic diseases ⚠
- p.Met469Thr Single submitter ⚠
- p.Met603Val Single submitter Coffin-Siris syndrome 8 ⚠
- p.Met646Val Single submitter ⚠
- p.Met705Thr Single submitter Inborn genetic diseases ⚠
- p.Met927Ile Single submitter ⚠
- p.Met944Val Single submitter SMARCC2-related disorder ⚠
- p.Met975Ile Single submitter Inborn genetic diseases ⚠
- p.Met985Val Single submitter Coffin-Siris syndrome 8 ⚠
- p.Phe1130Val Single submitter ⚠
- p.Phe124Val Single submitter ⚠
- p.Phe468Leu Single submitter Inborn genetic diseases ⚠
- p.Phe606Leu Single submitter ⚠
- p.Phe606Ser Single submitter ⚠
- p.Phe731Leu Single submitter ⚠
- p.Phe84Leu Single submitter ⚠
- p.Phe84Val Single submitter ⚠
- p.Pro1005Gln Single submitter Inborn genetic diseases ⚠
- p.Pro1021Ala Single submitter ⚠
- p.Pro1026Leu Single submitter Inborn genetic diseases ⚠
- p.Pro1034Leu Single submitter Inborn genetic diseases ⚠
- p.Pro1064Ser Single submitter ⚠
- p.Pro1073Ser Single submitter Inborn genetic diseases ⚠
- p.Pro1074Arg Single submitter Inborn genetic diseases ⚠
- p.Pro1081Leu Single submitter Inborn genetic diseases ⚠
- p.Pro1083Arg Single submitter Inborn genetic diseases ⚠
- p.Pro1093Ser Single submitter ⚠
- p.Pro1117Leu Single submitter Inborn genetic diseases ⚠
- p.Pro1122Ser Single submitter ⚠
- p.Pro1123_Pro1125dup Single submitter Coffin-Siris syndrome 8
- p.Pro1129Ser Single submitter Inborn genetic diseases ⚠
- p.Pro1155Leu Single submitter Inborn genetic diseases ⚠
- p.Pro1163Gln Single submitter Coffin-Siris syndrome 8 ⚠
- p.Pro1163Ser Single submitter ⚠
- p.Pro1167Leu Single submitter Inborn genetic diseases ⚠
- p.Pro1173Leu Single submitter Inborn genetic diseases ⚠
- p.Pro1176Arg Single submitter ⚠
- p.Pro1176Thr Single submitter Inborn genetic diseases ⚠
- p.Pro1185Leu Single submitter Inborn genetic diseases ⚠
- p.Pro1222Leu Single submitter Inborn genetic diseases ⚠
- p.Pro1230Arg Single submitter ⚠
- p.Pro1230Ser Single submitter Inborn genetic diseases ⚠
- p.Pro231Ser Single submitter ⚠
- p.Pro234Ser Single submitter Inborn genetic diseases ⚠
- p.Pro309Ser Single submitter Inborn genetic diseases ⚠
- p.Pro320Leu Single submitter ⚠
- p.Pro346Ser Single submitter ⚠
- p.Pro348Leu Single submitter ⚠
- p.Pro477Ser Single submitter ⚠
- p.Pro520Arg Single submitter ⚠
- p.Pro525Leu Single submitter Inborn genetic diseases ⚠
- p.Pro549Leu Single submitter ⚠
- p.Pro619Leu Single submitter ⚠
- p.Pro619Ser Single submitter Inborn genetic diseases ⚠
- p.Pro689His Single submitter ⚠
- p.Pro689Leu Single submitter Coffin-Siris syndrome 8 ⚠
- p.Pro689Ser Single submitter ⚠
- p.Pro696Arg Single submitter ⚠
- p.Pro779Leu Single submitter Inborn genetic diseases ⚠
- p.Pro803Ser Single submitter ⚠
- p.Pro993Gln Single submitter ⚠
- p.Ser102Arg Single submitter ⚠
- p.Ser1126Thr Single submitter ⚠
- p.Ser1201Asn Single submitter ⚠
- p.Ser286Thr Single submitter ⚠
- p.Ser706Arg Single submitter ⚠
- p.Ser713Phe Single submitter ⚠
- p.Ser822Gly Single submitter ⚠
- p.Ser872Pro Single submitter Inborn genetic diseases ⚠
- p.Thr126= Single submitter
- p.Thr166Ile Single submitter ⚠
- p.Thr214Met Single submitter Inborn genetic diseases ⚠
- p.Thr278Pro Single submitter ⚠
- p.Thr308Ile Single submitter Inborn genetic diseases ⚠
- p.Thr325Ile Single submitter ⚠
- p.Thr390Met Single submitter Inborn genetic diseases ⚠
- p.Thr391Met Single submitter Coffin-Siris syndrome 8 ⚠
- p.Thr633Ile Single submitter ⚠
- p.Thr74Ala Single submitter ⚠
- p.Thr878Ala Single submitter ⚠
- p.Tyr109His Single submitter
- p.Tyr296Cys Single submitter ⚠
- p.Tyr435His Single submitter Coffin-Siris syndrome 8 ⚠
- p.Tyr465Cys Single submitter Coffin-Siris syndrome 8 ⚠
- p.Tyr465His Single submitter Inborn genetic diseases ⚠
- p.Tyr953Asp Single submitter ⚠
- p.Val1071Asp Single submitter Coffin-Siris syndrome 8 ⚠
- p.Val1096Met Single submitter ⚠
- p.Val1104Met Single submitter Inborn genetic diseases ⚠
- p.Val1241fs Single submitter
- p.Val178Ala Single submitter ⚠
- p.Val201Phe Single submitter ⚠
- p.Val266Ile Single submitter ⚠
- p.Val355Leu Single submitter SMARCC2-related disorder ⚠
- p.Val53Ala Single submitter Coffin-Siris syndrome 8 ⚠
- p.Val715Asp Single submitter ⚠
- p.Val865Ala Single submitter ⚠
- p.Val865Met Single submitter Inborn genetic diseases ⚠
- p.Arg487Cys No assertion criteria SMARCC2-related disorder ⚠
- p.Glu816Val No assertion criteria SMARCC2-related disorder ⚠
- p.Gly809Glu No assertion criteria SMARCC2-related disorder ⚠
- p.Ile510Val No assertion criteria SMARCC2-related disorder ⚠
- p.Lys408Asn No assertion criteria SMARCC2-related disorder ⚠
- p.Ser822Ile No assertion criteria SMARCC2-related disorder ⚠
- p.Thr1224Pro No assertion criteria prostate cancer ⚠
- p.Tyr257Cys No assertion criteria Coffin-Siris syndrome 8 ⚠