SMARCA2 — 1575 ClinVar variants
All ClinVar germline SMARCA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 477 flagged for review →
46 Pathogenic · 13 Pathogenic/Likely pathogenic · 62 Likely pathogenic · 62 Conflicting · 194 Benign · 88 Benign/Likely benign · 544 Likely benign · 566 Uncertain significance
Full SMARCA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 477
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
SMARCA2 p.Ser263Thr
Likely pathogenic
Single submitter
pituitary stalk interruption syndrome
Predictors agree, ClinVar conflicts 31
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
SMARCA2 p.Ala290Val
Conflicting
Single submitter
Inborn genetic diseases
-
SMARCA2 p.Ala294Thr
Conflicting
Single submitter
intellectual disability-sparse hair-brachydactyly syndrome
-
SMARCA2 p.Ala470Ser
Conflicting
Single submitter
Inborn genetic diseases
-
SMARCA2 p.Arg1127Gly
Conflicting
Single submitter
intellectual disability-sparse hair-brachydactyly syndrome
-
SMARCA2 p.Arg1560Gln
Conflicting
Single submitter
intellectual disability-sparse hair-brachydactyly syndrome
-
SMARCA2 p.Arg1579His
Conflicting
Single submitter
intellectual disability-sparse hair-brachydactyly syndrome
-
SMARCA2 p.Arg562Lys
Conflicting
Single submitter
Inborn genetic diseases
-
SMARCA2 p.Asn1402Ile
Conflicting
Single submitter
Inborn genetic diseases
-
SMARCA2 p.Asn787Lys
Conflicting
Single submitter
SMARCA2-related BAFopathy
- SMARCA2 p.Asp1147Asn Conflicting Single submitter
-
SMARCA2 p.Asp534Asn
Conflicting
Single submitter
blepharophimosis-impaired intellectual development syndrome
-
SMARCA2 p.Gln1581His
Conflicting
Single submitter
Inborn genetic diseases
-
SMARCA2 p.Gln296Pro
Conflicting
Single submitter
Inborn genetic diseases
-
SMARCA2 p.Glu647Asp
Conflicting
Single submitter
Inborn genetic diseases
- SMARCA2 p.Gly18Glu Conflicting Single submitter
-
SMARCA2 p.Ile1506Phe
Conflicting
Single submitter
intellectual disability-sparse hair-brachydactyly syndrome
-
SMARCA2 p.Ile438Val
Conflicting
Single submitter
Inborn genetic diseases
-
SMARCA2 p.Ile778Leu
Conflicting
Single submitter
Inborn genetic diseases
-
SMARCA2 p.Leu1092Val
Conflicting
Single submitter
Inborn genetic diseases
-
SMARCA2 p.Leu1383Met
Conflicting
Single submitter
Inborn genetic diseases
-
SMARCA2 p.Lys755Asn
Conflicting
Single submitter
intellectual disability-sparse hair-brachydactyly syndrome
-
SMARCA2 p.Pro153Leu
Conflicting
Single submitter
Inborn genetic diseases
-
SMARCA2 p.Pro161Leu
Conflicting
Single submitter
Coffin Siris/Intellectual Disability
-
SMARCA2 p.Pro292Leu
Conflicting
Single submitter
intellectual disability-sparse hair-brachydactyly syndrome
- SMARCA2 p.Ser1077Thr Conflicting Single submitter
-
SMARCA2 p.Ser1528Leu
Conflicting
Single submitter
Inborn genetic diseases
- SMARCA2 p.Ser52Gly Conflicting Single submitter
- SMARCA2 p.Thr59Met Conflicting Single submitter
-
SMARCA2 p.Thr59Ser
Conflicting
Single submitter
Inborn genetic diseases
-
SMARCA2 p.Thr880Asn
Conflicting
Single submitter
Inborn genetic diseases
-
SMARCA2 p.Tyr514Cys
Conflicting
Single submitter
blepharophimosis-impaired intellectual development syndrome
Predictors lean, ClinVar uncertain 328
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 328
- SMARCA2 p.Ala1186Val Uncertain significance Multiple submitters
-
SMARCA2 p.Ala1215Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMARCA2 p.Ala1389Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SMARCA2 p.Ala479Val Uncertain significance Multiple submitters
-
SMARCA2 p.Arg1095Cys
Uncertain significance
Multiple submitters
intellectual disability-sparse hair-brachydactyly syndrome
- SMARCA2 p.Arg1367Lys Uncertain significance Multiple submitters
-
SMARCA2 p.Arg1421Gln
Uncertain significance
Multiple submitters
intellectual disability-sparse hair-brachydactyly syndrome
-
SMARCA2 p.Arg427Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMARCA2 p.Arg515Thr
Uncertain significance
Multiple submitters
SMARCA2-related disorder
-
SMARCA2 p.Arg524Lys
Uncertain significance
Multiple submitters
SMARCA2-related disorder
-
SMARCA2 p.Asp1153Val
Uncertain significance
Multiple submitters
intellectual disability-sparse hair-brachydactyly syndrome
-
SMARCA2 p.Asp1205Glu
Uncertain significance
Multiple submitters
intellectual disability-sparse hair-brachydactyly syndrome
-
SMARCA2 p.Asp1448Glu
Uncertain significance
Multiple submitters
SMARCA2-related disorder
- SMARCA2 p.Asp1545Val Uncertain significance Multiple submitters
-
SMARCA2 p.Glu1509Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SMARCA2 p.Glu1531Lys Uncertain significance Multiple submitters
- SMARCA2 p.Gly285Cys Uncertain significance Multiple submitters
-
SMARCA2 p.Ile1456Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SMARCA2 p.Pro281Leu Uncertain significance Multiple submitters
- SMARCA2 p.Pro291Arg Uncertain significance Multiple submitters
- SMARCA2 p.Pro291Leu Uncertain significance Multiple submitters
-
SMARCA2 p.Pro291Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SMARCA2 p.Pro292Ser Uncertain significance Multiple submitters
-
SMARCA2 p.Pro297Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMARCA2 p.Pro308Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SMARCA2 p.Ser1534Thr Uncertain significance Multiple submitters
-
SMARCA2 p.Ser412Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMARCA2 p.Ser709Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SMARCA2 p.Ser798Ala Uncertain significance Multiple submitters
-
SMARCA2 p.Thr211Met
Uncertain significance
Multiple submitters
intellectual disability-sparse hair-brachydactyly syndrome
-
SMARCA2 p.Thr274Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMARCA2 p.Thr422Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SMARCA2 p.Thr5Ala Uncertain significance Multiple submitters
-
SMARCA2 p.Thr807Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMARCA2 p.Tyr978Phe
Uncertain significance
Multiple submitters
intellectual disability-sparse hair-brachydactyly syndrome
-
SMARCA2 p.Val1566Leu
Uncertain significance
Multiple submitters
intellectual disability-sparse hair-brachydactyly syndrome
- SMARCA2 p.Ala1478Thr Uncertain significance Single submitter
- SMARCA2 p.Ala1507Val Uncertain significance Single submitter
- SMARCA2 p.Ala155Ser Uncertain significance Single submitter
-
SMARCA2 p.Ala1563Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMARCA2 p.Ala1563Val
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCA2 p.Ala255Thr Uncertain significance Single submitter
- SMARCA2 p.Ala409Gly Uncertain significance Single submitter
- SMARCA2 p.Ala485Val Uncertain significance Single submitter
- SMARCA2 p.Ala538Gly Uncertain significance Single submitter
- SMARCA2 p.Ala566Ser Uncertain significance Single submitter
- SMARCA2 p.Ala576Thr Uncertain significance Single submitter
-
SMARCA2 p.Ala972Pro
Uncertain significance
Single submitter
intellectual disability-sparse hair-brachydactyly syndrome
-
SMARCA2 p.Ala9Val
Uncertain significance
Single submitter
intellectual disability-sparse hair-brachydactyly syndrome
- SMARCA2 p.Arg1047Gln Uncertain significance Single submitter
- SMARCA2 p.Arg1057Cys Uncertain significance Single submitter
- SMARCA2 p.Arg1089Gln Uncertain significance Single submitter
- SMARCA2 p.Arg1089Trp Uncertain significance Single submitter
-
SMARCA2 p.Arg1095His
Uncertain significance
Single submitter
blepharophimosis-impaired intellectual development syndrome
- SMARCA2 p.Arg1173Ser Uncertain significance Single submitter
- SMARCA2 p.Arg1260Gln Uncertain significance Single submitter
-
SMARCA2 p.Arg1270Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCA2 p.Arg1311Pro Uncertain significance Single submitter
-
SMARCA2 p.Arg1349Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCA2 p.Arg1444Lys Uncertain significance Single submitter
- SMARCA2 p.Arg1455Ser Uncertain significance Single submitter
- SMARCA2 p.Arg1455Thr Uncertain significance Single submitter
- SMARCA2 p.Arg1579Cys Uncertain significance Single submitter
- SMARCA2 p.Arg261Lys Uncertain significance Single submitter
- SMARCA2 p.Arg261Thr Uncertain significance Single submitter
- SMARCA2 p.Arg346Gln Uncertain significance Single submitter
- SMARCA2 p.Arg384Trp Uncertain significance Single submitter
- SMARCA2 p.Arg417Trp Uncertain significance Single submitter
-
SMARCA2 p.Arg420Leu
Uncertain significance
Single submitter
blepharophimosis-impaired intellectual development syndrome
- SMARCA2 p.Arg442Lys Uncertain significance Single submitter
-
SMARCA2 p.Arg811Cys
Uncertain significance
Single submitter
intellectual disability-sparse hair-brachydactyly syndrome
- SMARCA2 p.Arg812Cys Uncertain significance Single submitter
- SMARCA2 p.Arg812His Uncertain significance Single submitter
- SMARCA2 p.Arg819Trp Uncertain significance Single submitter
- SMARCA2 p.Arg876Ser Uncertain significance Single submitter
- SMARCA2 p.Arg936Gly Uncertain significance Single submitter
- SMARCA2 p.Arg948Ser Uncertain significance Single submitter
-
SMARCA2 p.Asn1041Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMARCA2 p.Asn1090Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCA2 p.Asn1517Lys Uncertain significance Single submitter
-
SMARCA2 p.Asn168Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCA2 p.Asn411Ser Uncertain significance Single submitter
-
SMARCA2 p.Asn486Lys
Uncertain significance
Single submitter
intellectual disability
- SMARCA2 p.Asn542Asp Uncertain significance Single submitter
- SMARCA2 p.Asn542Ser Uncertain significance Single submitter
- SMARCA2 p.Asn740Ser Uncertain significance Single submitter
-
SMARCA2 p.Asp1236Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMARCA2 p.Asp1236Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCA2 p.Asp1257Ala Uncertain significance Single submitter
- SMARCA2 p.Asp1470Asn Uncertain significance Single submitter
- SMARCA2 p.Asp1491His Uncertain significance Single submitter
- SMARCA2 p.Asp1491Tyr Uncertain significance Single submitter
- SMARCA2 p.Asp1514His Uncertain significance Single submitter
-
SMARCA2 p.Asp1577Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMARCA2 p.Asp1589Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMARCA2 p.Asp1589His
Uncertain significance
Single submitter
intellectual disability-sparse hair-brachydactyly syndrome
- SMARCA2 p.Asp338Glu Uncertain significance Single submitter
- SMARCA2 p.Asp523Glu Uncertain significance Single submitter
- SMARCA2 p.Asp646Val Uncertain significance Single submitter
- SMARCA2 p.Asp663Tyr Uncertain significance Single submitter
- SMARCA2 p.Asp82Glu Uncertain significance Single submitter
- SMARCA2 p.Asp836Asn Uncertain significance Single submitter
- SMARCA2 p.Asp88Gly Uncertain significance Single submitter
- SMARCA2 p.Cys1296Phe Uncertain significance Single submitter
- SMARCA2 p.Cys1475Ser Uncertain significance Single submitter
- SMARCA2 p.Gln1011Arg Uncertain significance Single submitter
- SMARCA2 p.Gln115Leu Uncertain significance Single submitter
- SMARCA2 p.Gln1422Lys Uncertain significance Single submitter
-
SMARCA2 p.Gln147Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMARCA2 p.Gln147His
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCA2 p.Gln166Arg Uncertain significance Single submitter
- SMARCA2 p.Gln166His Uncertain significance Single submitter
- SMARCA2 p.Gln237Pro Uncertain significance Single submitter
- SMARCA2 p.Gln276Pro Uncertain significance Single submitter
-
SMARCA2 p.Gln296Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCA2 p.Gln332His Uncertain significance Single submitter
- SMARCA2 p.Gln332Pro Uncertain significance Single submitter
-
SMARCA2 p.Gln335Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCA2 p.Gln344Glu Uncertain significance Single submitter
- SMARCA2 p.Gln436His Uncertain significance Single submitter
- SMARCA2 p.Gln676Leu Uncertain significance Single submitter
-
SMARCA2 p.Glu1277Lys
Uncertain significance
Single submitter
intellectual disability-sparse hair-brachydactyly syndrome
- SMARCA2 p.Glu1298Asp Uncertain significance Single submitter
- SMARCA2 p.Glu1404Asp Uncertain significance Single submitter
- SMARCA2 p.Glu1413Lys Uncertain significance Single submitter
- SMARCA2 p.Glu1415Lys Uncertain significance Single submitter
- SMARCA2 p.Glu1454Gly Uncertain significance Single submitter
-
SMARCA2 p.Glu1509Gln
Uncertain significance
Single submitter
intellectual disability-sparse hair-brachydactyly syndrome
- SMARCA2 p.Glu1510Gln Uncertain significance Single submitter
- SMARCA2 p.Glu1513Asp Uncertain significance Single submitter
-
SMARCA2 p.Glu1525Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCA2 p.Glu1529Gln Uncertain significance Single submitter
-
SMARCA2 p.Glu1574Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCA2 p.Glu1575Gln Uncertain significance Single submitter
- SMARCA2 p.Glu1590Lys Uncertain significance Single submitter
-
SMARCA2 p.Glu200Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCA2 p.Glu433Gln Uncertain significance Single submitter
- SMARCA2 p.Glu512Lys Uncertain significance Single submitter
- SMARCA2 p.Glu586Asp Uncertain significance Single submitter
- SMARCA2 p.Glu628Ala Uncertain significance Single submitter
- SMARCA2 p.Glu644Ala Uncertain significance Single submitter
- SMARCA2 p.Glu650Gly Uncertain significance Single submitter
- SMARCA2 p.Glu668Asp Uncertain significance Single submitter
-
SMARCA2 p.Glu768Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMARCA2 p.Glu922Lys
Uncertain significance
Single submitter
intellectual disability-sparse hair-brachydactyly syndrome
- SMARCA2 p.Glu960Lys Uncertain significance Single submitter
- SMARCA2 p.Gly105Ala Uncertain significance Single submitter
- SMARCA2 p.Gly1098Arg Uncertain significance Single submitter
- SMARCA2 p.Gly1129Arg Uncertain significance Single submitter
-
SMARCA2 p.Gly1130Asp
Uncertain significance
Single submitter
intellectual disability-sparse hair-brachydactyly syndrome
Predictors split 117
The independent predictors disagree with each other — read with care.
-
SMARCA2 p.Ala1064Val
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
-
SMARCA2 p.Ala414Thr
Uncertain significance
Multiple submitters
Coffin-Siris syndrome 1
-
SMARCA2 p.Arg1266Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMARCA2 p.Arg505Gln
Pathogenic/Likely pathogenic
Multiple submitters
Inborn genetic diseases
- SMARCA2 p.Glu1374Ala Uncertain significance Multiple submitters
-
SMARCA2 p.Ile843Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMARCA2 p.Lys1460Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMARCA2 p.Met590Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMARCA2 p.Pro1115Leu
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
-
SMARCA2 p.Pro33Ser
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
- SMARCA2 p.Ser1501Arg Uncertain significance Multiple submitters
-
SMARCA2 p.Ala1188Thr
Conflicting
Single submitter
intellectual disability-sparse hair-brachydactyly syndrome
-
SMARCA2 p.Ala1478Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCA2 p.Ala355Gly Conflicting Single submitter
- SMARCA2 p.Ala409Val Uncertain significance Single submitter
- SMARCA2 p.Ala630Thr Uncertain significance Single submitter
- SMARCA2 p.Ala681Pro Uncertain significance Single submitter
- SMARCA2 p.Ala809Pro Uncertain significance Single submitter
- SMARCA2 p.Arg1063Gly Uncertain significance Single submitter
- SMARCA2 p.Arg1262Thr Benign Single submitter
-
SMARCA2 p.Arg1293Ser
Uncertain significance
Single submitter
SMARCA2-related disorder
- SMARCA2 p.Arg1367Thr Uncertain significance Single submitter
- SMARCA2 p.Arg1368Lys Uncertain significance Single submitter
- SMARCA2 p.Arg1457His Uncertain significance Single submitter
- SMARCA2 p.Arg1462Gly Uncertain significance Single submitter
-
SMARCA2 p.Arg1503Gln
Conflicting
Single submitter
Inborn genetic diseases
-
SMARCA2 p.Arg1503Trp
Uncertain significance
Single submitter
blepharophimosis-impaired intellectual development syndrome
-
SMARCA2 p.Arg401Cys
Conflicting
Single submitter
Inborn genetic diseases
- SMARCA2 p.Arg504Gln Benign Single submitter
-
SMARCA2 p.Arg844Gln
Likely pathogenic
Single submitter
intellectual disability-sparse hair-brachydactyly syndrome
- SMARCA2 p.Asn1193Lys Uncertain significance Single submitter
- SMARCA2 p.Asn1379His Uncertain significance Single submitter
- SMARCA2 p.Asn824Ser Likely benign Single submitter
-
SMARCA2 p.Asp1084Glu
Uncertain significance
Single submitter
intellectual disability-sparse hair-brachydactyly syndrome
-
SMARCA2 p.Asp1195Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCA2 p.Asp1399Gly Uncertain significance Single submitter
- SMARCA2 p.Asp1399His Uncertain significance Single submitter
- SMARCA2 p.Asp403Gly Uncertain significance Single submitter
-
SMARCA2 p.Asp836Glu
Uncertain significance
Single submitter
intellectual disability-sparse hair-brachydactyly syndrome
- SMARCA2 p.Gln1152His Likely pathogenic Single submitter
- SMARCA2 p.Gln1496His Benign Single submitter
-
SMARCA2 p.Gln1496Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMARCA2 p.Gln227Arg
Likely benign
Single submitter
Inborn genetic diseases
- SMARCA2 p.Gln237Lys Uncertain significance Single submitter
- SMARCA2 p.Gln245Glu Uncertain significance Single submitter
- SMARCA2 p.Gln251Lys Uncertain significance Single submitter
- SMARCA2 p.Gln351Glu Uncertain significance Single submitter
- SMARCA2 p.Gln394Arg Uncertain significance Single submitter
-
SMARCA2 p.Gln957Arg
Likely pathogenic
Single submitter
blepharophimosis-impaired intellectual development syndrome
- SMARCA2 p.Glu1232Lys Uncertain significance Single submitter
- SMARCA2 p.Glu1330Lys Uncertain significance Single submitter
- SMARCA2 p.Glu1438Ala Uncertain significance Single submitter
- SMARCA2 p.Glu1441Gln Uncertain significance Single submitter
-
SMARCA2 p.Glu464Lys
Likely pathogenic
Single submitter
blepharophimosis-impaired intellectual development syndrome
- SMARCA2 p.Glu496Asp Uncertain significance Single submitter
- SMARCA2 p.Glu555Gly Uncertain significance Single submitter
- SMARCA2 p.Glu750Gln Uncertain significance Single submitter
- SMARCA2 p.Gly1116Ala Uncertain significance Single submitter
- SMARCA2 p.Gly141Arg Uncertain significance Single submitter
- SMARCA2 p.Gly170Arg Uncertain significance Single submitter
-
SMARCA2 p.Gly38Cys
Uncertain significance
Single submitter
intellectual disability-sparse hair-brachydactyly syndrome
- SMARCA2 p.Gly45Ala Likely benign Single submitter
-
SMARCA2 p.Gly513Ser
Conflicting
Single submitter
blepharophimosis-impaired intellectual development syndrome
-
SMARCA2 p.Gly61Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCA2 p.His1459Gln Uncertain significance Single submitter
- SMARCA2 p.His458Leu Uncertain significance Single submitter
-
SMARCA2 p.His74Arg
Conflicting
Single submitter
Inborn genetic diseases
- SMARCA2 p.His980Arg Uncertain significance Single submitter
-
SMARCA2 p.Ile1009Thr
Uncertain significance
Single submitter
intellectual disability-sparse hair-brachydactyly syndrome
- SMARCA2 p.Ile1121Leu Uncertain significance Single submitter
- SMARCA2 p.Ile1493Met Likely benign Single submitter
- SMARCA2 p.Ile26Thr Uncertain significance Single submitter
-
SMARCA2 p.Ile328Ser
Uncertain significance
Single submitter
cleft palate
-
SMARCA2 p.Ile498Thr
Uncertain significance
Single submitter
intellectual disability-sparse hair-brachydactyly syndrome
- SMARCA2 p.Leu386Val Uncertain significance Single submitter
- SMARCA2 p.Leu410Phe Uncertain significance Single submitter
- SMARCA2 p.Leu826Val Uncertain significance Single submitter
-
SMARCA2 p.Lys1382Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCA2 p.Lys1460Asn Uncertain significance Single submitter
-
SMARCA2 p.Lys1460Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCA2 p.Lys1500Asn Likely benign Single submitter
- SMARCA2 p.Lys1536Thr Uncertain significance Single submitter
-
SMARCA2 p.Lys1562Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMARCA2 p.Lys563Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCA2 p.Lys83Thr Uncertain significance Single submitter
- SMARCA2 p.Met1021Ile Uncertain significance Single submitter
-
SMARCA2 p.Phe1304Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMARCA2 p.Phe1570Leu
Conflicting
Single submitter
blepharophimosis-impaired intellectual development syndrome
- SMARCA2 p.Phe792Leu Uncertain significance Single submitter
- SMARCA2 p.Pro1115Ala Uncertain significance Single submitter
- SMARCA2 p.Pro1378Arg Uncertain significance Single submitter
- SMARCA2 p.Pro137Arg Uncertain significance Single submitter
-
SMARCA2 p.Pro1565Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMARCA2 p.Pro21His
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCA2 p.Pro31Thr Uncertain significance Single submitter
- SMARCA2 p.Pro35Leu Conflicting Single submitter
-
SMARCA2 p.Pro46Ser
Uncertain significance
Single submitter
intellectual disability
- SMARCA2 p.Pro631Arg Uncertain significance Single submitter
-
SMARCA2 p.Ser1077Cys
Likely benign
Single submitter
intellectual disability-sparse hair-brachydactyly syndrome
-
SMARCA2 p.Ser1512Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCA2 p.Ser1530Cys Benign Single submitter
- SMARCA2 p.Ser273Cys Uncertain significance Single submitter
- SMARCA2 p.Ser412Tyr Uncertain significance Single submitter
-
SMARCA2 p.Ser690Arg
Uncertain significance
Single submitter
intellectual disability-sparse hair-brachydactyly syndrome
-
SMARCA2 p.Thr1384Ile
Conflicting
Single submitter
Inborn genetic diseases
- SMARCA2 p.Thr404Met Uncertain significance Single submitter
- SMARCA2 p.Thr602Ala Uncertain significance Single submitter
-
SMARCA2 p.Thr764Ala
Uncertain significance
Single submitter
intellectual disability-sparse hair-brachydactyly syndrome
- SMARCA2 p.Thr869Ser Uncertain significance Single submitter
-
SMARCA2 p.Thr901Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMARCA2 p.Tyr120His
Likely benign
Single submitter
Inborn genetic diseases
- SMARCA2 p.Tyr790Asn Uncertain significance Single submitter
-
SMARCA2 p.Val1567Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- SMARCA2 p.Val685Leu Uncertain significance Single submitter
- SMARCA2 p.Val800Met Uncertain significance Single submitter
-
SMARCA2 p.Ile932Thr
Uncertain significance
No assertion criteria
intellectual disability
-
SMARCA2 p.Lys1556Glu
Uncertain significance
No assertion criteria
microcephaly
All SMARCA2 variants
Pathogenic 46
- p.Ala1160Gly Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- p.Arg1105Cys Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- p.Arg1105His Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- p.Arg1159Gly Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- p.Arg525Cys Multiple submitters blepharophimosis-impaired intellectual development syndrome
- p.Arg855Gln Multiple submitters SMARCA2-related BAFopathy
- p.Glu852Lys Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- p.Gly1129Asp Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- p.Pro883Leu Multiple submitters SMARCA2-related BAFopathy
- p.Ala1128Pro Single submitter
- p.Ala1156Thr Single submitter
- p.Ala1219Pro Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- p.Arg1105Gly Single submitter
- p.Arg1162Ser Single submitter
- p.Arg937Cys Single submitter blepharophimosis-impaired intellectual development syndrome
- p.Asn1149Ser Single submitter
- p.Asp1147Ala Single submitter
- p.Gln1074Glu Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- p.Gln1155Pro Single submitter
- p.Glu852Gln Single submitter SMARCA2-related BAFopathy
- p.Gly1098Ser Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- p.Gly752Ala Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- p.Gly853Asp Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- p.Ile779Leu Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- p.Leu1217Pro Single submitter
- p.Leu529Val Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- p.Leu753His Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- p.Leu753Phe Single submitter
- p.Leu946Phe Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- p.Lys755Arg Single submitter
- p.Pro883Ala Single submitter
- p.Pro883Ser Single submitter
- p.Ser1146Arg Single submitter
- p.Thr1100Pro Single submitter
- p.Thr829Ile Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- p.Thr880Ile Single submitter
- p.Val1198Gly Single submitter Inborn genetic diseases
- p.Arg1159Leu No assertion criteria intellectual disability-sparse hair-brachydactyly syndrome
- p.Arg855Gly No assertion criteria intellectual disability-sparse hair-brachydactyly syndrome
- p.Asp1158Val No assertion criteria intellectual disability-sparse hair-brachydactyly syndrome
- p.Gly1132Asp No assertion criteria intellectual disability-sparse hair-brachydactyly syndrome
- p.Gly1202Cys No assertion criteria intellectual disability-sparse hair-brachydactyly syndrome
- p.Gly881Val No assertion criteria intellectual disability-sparse hair-brachydactyly syndrome
- p.His854Leu No assertion criteria intellectual disability-sparse hair-brachydactyly syndrome
- p.His939Tyr No assertion criteria intellectual disability-sparse hair-brachydactyly syndrome
- p.Trp795Arg No assertion criteria intellectual disability-sparse hair-brachydactyly syndrome
Pathogenic/Likely pathogenic 13
- p.Ala1138Pro Multiple submitters Inborn genetic diseases
- p.Ala1201Glu Multiple submitters neurodevelopmental disorder
- p.Ala1201Val Multiple submitters Developmental delay
- p.Arg1105Pro Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- p.Arg1159Gln Multiple submitters SMARCA2-related BAFopathy
- p.Arg1162Cys Multiple submitters SMARCA2-related disorder
- p.Arg1162His Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- p.Arg505Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg525His Multiple submitters blepharophimosis-impaired intellectual development syndrome
- p.Arg937His Multiple submitters SMARCA2-related BAFopathy
- p.Asp534Tyr Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- p.Ser783Leu Multiple submitters SMARCA2-related BAFopathy
- p.Arg937Leu No assertion criteria blepharophimosis-impaired intellectual development syndrome
Likely pathogenic 62
- p.Asp534Gly Multiple submitters blepharophimosis-impaired intellectual development syndrome
- p.Ile518Thr Multiple submitters SMARCA2-related disorder
- p.Pro883Gln Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- p.Ser783Trp Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- p.Thr1321Met Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- c.3457-2A>T Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- c.(-37+1_-36-1 Single submitter blepharophimosis-impaired intellectual development syndrome
- p.Ala1156Gly Single submitter Autosomal dominant epilepsy
- p.Ala1160Asp Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- p.Arg1068Ter Single submitter
- p.Arg1105Leu Single submitter
- p.Arg1162Gly Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- p.Arg1213Trp Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- p.Arg1342Trp Single submitter
- p.Arg420Cys Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- p.Arg811Gly Single submitter Neurodevelopmental delay
- p.Arg844Gln Single submitter intellectual disability-sparse hair-brachydactyly syndrome ⚠
- p.Asn1007Lys Single submitter
- p.Asp534His Single submitter
- p.Asp851Asn Single submitter
- p.Gln1136Arg Single submitter SMARCA2-related disorder
- p.Gln1152His Single submitter ⚠
- p.Gln1165Lys Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- p.Gln1196Pro Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- p.Gln1200Pro Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- p.Gln957Arg Single submitter blepharophimosis-impaired intellectual development syndrome ⚠
- p.Glu464Lys Single submitter blepharophimosis-impaired intellectual development syndrome ⚠
- p.Glu929Val Single submitter intellectual disability
- p.Gly1130_Leu1131insGly Single submitter
- p.Gly1164Arg Single submitter
- p.Gly513Asp Single submitter intellectual disability
- p.Gly752Arg Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- p.His1151Tyr Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- p.His1161Arg Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- p.His1161Gln Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- p.Lys951Asn Single submitter
- p.Met1079Thr Single submitter
- p.Met1242Lys Single submitter SMARCA2-related disorder
- p.Phe1204Leu Single submitter
- p.Phe913Leu Single submitter Inborn genetic diseases
- p.Phe945Cys Single submitter
- p.Pro158fs Single submitter
- p.Pro625Leu Single submitter blepharophimosis-impaired intellectual development syndrome
- p.Pro781Arg Single submitter intellectual disability
- p.Pro944Gln Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- p.Ser1208Cys Single submitter intellectual disability
- p.Ser263Thr Single submitter pituitary stalk interruption syndrome ⚠
- p.Thr989Arg Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- p.Thr989Lys Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- p.Trp1283Arg Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- p.Trp1283Cys Single submitter Neurodevelopmental delay
- p.Trp912Cys Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- p.Tyr1489Cys Single submitter blepharophimosis-impaired intellectual development syndrome
- p.Tyr514His Single submitter
- p.Tyr776His Single submitter Inborn genetic diseases
- p.Val1141Met Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- p.Val1169Ala Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- p.Asp1147Glu No assertion criteria intellectual disability-sparse hair-brachydactyly syndrome
- p.Asp510Gly No assertion criteria blepharophimosis - intellectual disability syndrome
- p.Asp851Gly No assertion criteria intellectual disability-sparse hair-brachydactyly syndrome
- p.Gly1034Asp No assertion criteria SMARCA2-related disorder
- p.Gly513Val No assertion criteria intellectual disability
Conflicting classifications of pathogenicity 62
- c.1174-10T>C Single submitter
- c.2037-4C>A Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- c.2348+8A>C Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- c.4200-9C>G Single submitter
- c.4737+12C>T Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- c.4738-9T>C Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- p.Ala1188Thr Single submitter intellectual disability-sparse hair-brachydactyly syndrome ⚠
- p.Ala290Val Single submitter Inborn genetic diseases ⚠
- p.Ala294Thr Single submitter intellectual disability-sparse hair-brachydactyly syndrome ⚠
- p.Ala355Gly Single submitter ⚠
- p.Ala470Ser Single submitter Inborn genetic diseases ⚠
- p.Arg1127Gly Single submitter intellectual disability-sparse hair-brachydactyly syndrome ⚠
- p.Arg1503Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1560Gln Single submitter intellectual disability-sparse hair-brachydactyly syndrome ⚠
- p.Arg1579His Single submitter intellectual disability-sparse hair-brachydactyly syndrome ⚠
- p.Arg401Cys Single submitter Inborn genetic diseases ⚠
- p.Arg562Lys Single submitter Inborn genetic diseases ⚠
- p.Asn1388= Single submitter
- p.Asn1402Ile Single submitter Inborn genetic diseases ⚠
- p.Asn787Lys Single submitter SMARCA2-related BAFopathy ⚠
- p.Asp1147Asn Single submitter ⚠
- p.Asp534Asn Single submitter blepharophimosis-impaired intellectual development syndrome ⚠
- p.Asp618= Single submitter Inborn genetic diseases
- p.Cys1296Tyr Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- p.Gln1581His Single submitter Inborn genetic diseases ⚠
- p.Gln228_Gln229insPro Single submitter Inborn genetic diseases
- p.Gln231_Gln238del Single submitter Inborn genetic diseases
- p.Gln235_Gln238del Single submitter Inborn genetic diseases
- p.Gln238_Pro239insGlnGlnGlnGlnGlnGln Single submitter Coffin Siris/Intellectual Disability
- p.Gln296Pro Single submitter Inborn genetic diseases ⚠
- p.Glu1527del Single submitter
- p.Glu647Asp Single submitter Inborn genetic diseases ⚠
- p.Gly18Glu Single submitter ⚠
- p.Gly284_Pro291del Single submitter Inborn genetic diseases
- p.Gly513Ser Single submitter blepharophimosis-impaired intellectual development syndrome ⚠
- p.His133= Single submitter Inborn genetic diseases
- p.His74Arg Single submitter Inborn genetic diseases ⚠
- p.Ile1506Phe Single submitter intellectual disability-sparse hair-brachydactyly syndrome ⚠
- p.Ile438Val Single submitter Inborn genetic diseases ⚠
- p.Ile778Leu Single submitter Inborn genetic diseases ⚠
- p.Leu1055= Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- p.Leu1092Val Single submitter Inborn genetic diseases ⚠
- p.Leu1383Met Single submitter Inborn genetic diseases ⚠
- p.Leu818= Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- p.Lys558del Single submitter
- p.Lys755Asn Single submitter intellectual disability-sparse hair-brachydactyly syndrome ⚠
- p.Phe1570Leu Single submitter blepharophimosis-impaired intellectual development syndrome ⚠
- p.Pro108= Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- p.Pro153Leu Single submitter Inborn genetic diseases ⚠
- p.Pro161Leu Single submitter Coffin Siris/Intellectual Disability ⚠
- p.Pro292Leu Single submitter intellectual disability-sparse hair-brachydactyly syndrome ⚠
- p.Pro305= Single submitter
- p.Pro35Leu Single submitter ⚠
- p.Ser1077Thr Single submitter ⚠
- p.Ser1528Leu Single submitter Inborn genetic diseases ⚠
- p.Ser52Gly Single submitter ⚠
- p.Thr1384Ile Single submitter Inborn genetic diseases ⚠
- p.Thr59Met Single submitter ⚠
- p.Thr59Ser Single submitter Inborn genetic diseases ⚠
- p.Thr880Asn Single submitter Inborn genetic diseases ⚠
- p.Tyr514Cys Single submitter blepharophimosis-impaired intellectual development syndrome ⚠
- p.Val800= Single submitter
Benign 194
- c.1046+45C>T Multiple submitters
- c.1047-32C>T Multiple submitters
- c.1047-35C>A Multiple submitters
- c.1174-109G>A Multiple submitters
- c.1347+16_1347+17insT Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- c.1347+191A>C Multiple submitters
- c.1521+44G>A Multiple submitters
- c.1522-48T>C Multiple submitters
- c.1747-50G>C Multiple submitters
- c.1747-86C>G Multiple submitters
- c.1877+9T>A Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- c.1878-30C>T Multiple submitters
- c.1878-52A>T Multiple submitters
- c.1878-84A>G Multiple submitters
- c.1935+216C>T Multiple submitters
- c.1935+85G>T Multiple submitters
- c.1936-55A>T Multiple submitters
- c.2037-185G>T Multiple submitters
- c.2184+99T>C Multiple submitters
- c.2185-224A>T Multiple submitters
- c.225+28C>G Multiple submitters
- c.226-107G>A Multiple submitters
- c.2527-25G>A Multiple submitters
- c.2770-7C>G Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- c.2883+37T>C Multiple submitters
- c.2883+90A>C Multiple submitters
- c.2991+10G>A Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- c.2991+10G>T Multiple submitters
- c.2992-74G>A Multiple submitters
- c.2992-8G>A Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- c.3078+82A>T Multiple submitters
- c.3078+89C>A Multiple submitters
- c.3079-25T>A Multiple submitters blepharophimosis-impaired intellectual development syndrome
- c.3126-53T>C Multiple submitters
- c.3292+24C>T Multiple submitters
- c.3457-79T>C Multiple submitters
- c.355+101A>C Multiple submitters
- c.3684+104A>C Multiple submitters
- c.3762+194A>C Multiple submitters
- c.3762+73C>G Multiple submitters
- c.3763-188G>A Multiple submitters
- c.3763-196A>G Multiple submitters
- c.3763-284G>A Multiple submitters
- c.3763-34T>G Multiple submitters
- c.3763-35C>T Multiple submitters
- c.3763-58G>A Multiple submitters
- c.3763-80T>C Multiple submitters
- c.4199+46C>T Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- c.4200-134G>A Multiple submitters
- c.4200-47G>A Multiple submitters
- c.4253+40G>C Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- c.4253+53C>T Multiple submitters
- c.4254-18G>C Multiple submitters
- c.4359+98G>C Multiple submitters
- c.4360-79A>G Multiple submitters blepharophimosis-impaired intellectual development syndrome
- c.4461+48G>A Multiple submitters
- c.4462-122A>C Multiple submitters
- c.4595-20T>C Multiple submitters
- c.4595-77G>T Multiple submitters
- c.790+73C>T Multiple submitters
- c.790+83A>C Multiple submitters
- c.-36-45A>G Multiple submitters
- c.-5G>A Multiple submitters Inborn genetic diseases
- c.*181C>T Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- c.*431G>A Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- c.*698T>C Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- p.Arg504= Multiple submitters
- p.Asp1546Glu Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- p.Gln228Pro Multiple submitters Inborn genetic diseases
- p.Gln238del Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- p.Gln245Leu Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- p.Gln250= Multiple submitters Inborn genetic diseases
- p.Glu1224= Multiple submitters Inborn genetic diseases
- p.Gly154= Multiple submitters Inborn genetic diseases
- p.Leu977= Multiple submitters
- p.Pro239= Multiple submitters Inborn genetic diseases
- p.Pro58= Multiple submitters Inborn genetic diseases
- p.Pro609= Multiple submitters Inborn genetic diseases
- p.Ser1530= Multiple submitters Inborn genetic diseases
- p.Thr59= Multiple submitters Inborn genetic diseases
- p.Val396= Multiple submitters
- c.1046+275G>C Single submitter
- c.1047-188C>T Single submitter
- c.1047-217C>T Single submitter
- c.1348-158T>C Single submitter
- c.1521+21G>A Single submitter
- c.1522-231G>A Single submitter
- c.1692+12_1692+13delinsGT Single submitter
- c.1692+4C>T Single submitter
- c.1746+4del Single submitter
- c.1747-48G>C Single submitter
- c.1935+35T>G Single submitter
- c.2036+17del Single submitter
- c.2184+112A>G Single submitter
- c.2185-44C>G Single submitter
- c.225+207C>A Single submitter
- c.2348+311_2348+312dup Single submitter
- c.2348+312GT[21] Single submitter
- c.2348+31G>A Single submitter
- c.2349-10del Single submitter
- c.2349-10dup Single submitter
- c.2349-22G>T Single submitter
- c.2416-331A>G Single submitter
- c.2526+16del Single submitter
- c.2526+175TG[17] Single submitter
- c.2526+175TG[18] Single submitter
- c.2526+175TG[21] Single submitter
- c.2526+175TG[22] Single submitter
- c.2526+175TG[24] Single submitter
- c.2526+175TG[25] Single submitter
- c.2770-109A>C Single submitter
- c.2883+269_2883+281dup Single submitter
- c.2883+270_2883+281dup Single submitter
- c.2883+274_2883+281dup Single submitter
- c.2883+275_2883+281dup Single submitter
- c.2883+46A>G Single submitter
- c.3078+114C>T Single submitter
- c.3078+65del Single submitter
- c.3078+88del Single submitter
- c.3078+88dup Single submitter
- c.3079-136G>A Single submitter
- c.3079-248G>A Single submitter
- c.3125+43G>T Single submitter
- c.3125+47T>A Single submitter
- c.3126-225A>C Single submitter
- c.3292+15C>T Single submitter
- c.3292+256T>G Single submitter
- c.3292+25G>A Single submitter
- c.3293-45T>C Single submitter
- c.3456+164A>G Single submitter
- c.355+49A>C Single submitter
- c.356-220del Single submitter
- c.356-253A>G Single submitter
- c.3684+341G>A Single submitter
- c.3762+47C>T Single submitter
- c.3763-47C>A Single submitter
- c.3763-48C>A Single submitter
- c.3981+203C>T Single submitter
- c.3981+22C>T Single submitter
- c.3982-2697T>G Single submitter
- c.3982-40C>T Single submitter
- c.4199+183T>C Single submitter
- c.4199+41G>C Single submitter
- c.4199+47G>C Single submitter
- c.4253+6G>A Single submitter
- c.4359+178C>T Single submitter
- c.4359+46G>A Single submitter
- c.4461+195T>C Single submitter
- c.4462-14del Single submitter
- c.4594+102_4594+103insT Single submitter
- c.4594+232T>C Single submitter
- c.4594+80_4594+98del Single submitter
- c.4595-22A>G Single submitter
- c.4595-285T>G Single submitter
- c.4595-33C>T Single submitter
- c.4595-41T>A Single submitter
- c.4737+317C>T Single submitter
- c.4738-28C>G Single submitter
- c.4738-299A>G Single submitter
- c.4738-316dup Single submitter
- c.790+45G>A Single submitter
- c.791-133del Single submitter
- c.791-133dup Single submitter
- c.-36-230T>G Single submitter
- c.*138C>T Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- c.*324G>C Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- c.*620T>C Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- c.*716A>G Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- c.*726T>C Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- p.Ala294= Single submitter
- p.Arg1262Thr Single submitter ⚠
- p.Arg1349Gly Single submitter
- p.Arg1549Trp Single submitter
- p.Arg390His Single submitter
- p.Arg467Trp Single submitter
- p.Arg504Gln Single submitter ⚠
- p.Asn387Ser Single submitter
- p.Asn411= Single submitter
- p.Asp851= Single submitter
- p.Asp969= Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- p.Gln1496His Single submitter ⚠
- p.Glu1522Gln Single submitter
- p.Glu268Asp Single submitter
- p.Leu938= Single submitter
- p.Met44Val Single submitter
- p.Pro173Ser Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- p.Pro292Arg Single submitter
- p.Pro369Leu Single submitter
- p.Ser1530Cys Single submitter ⚠
- p.Ser273Asn Single submitter
- p.Thr600Ser Single submitter
- p.Tyr1046Phe Single submitter
- p.Tyr189= Single submitter
- p.Val1535Ile Single submitter
Benign/Likely benign 88
- c.1347+19T>G Multiple submitters
- c.1522-19G>A Multiple submitters
- c.1746+10C>T Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- c.1877+19G>A Multiple submitters
- c.226-20A>G Multiple submitters
- c.2348+3A>G Multiple submitters Inborn genetic diseases
- c.2349-15T>A Multiple submitters
- c.2349-3T>C Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- c.2526+13A>G Multiple submitters
- c.3125+21del Multiple submitters
- c.3125+5A>G Multiple submitters
- c.3126-17C>T Multiple submitters
- c.3126-9dup Multiple submitters
- c.3685-6C>A Multiple submitters Inborn genetic diseases
- c.4200-4G>A Multiple submitters Inborn genetic diseases
- c.4200-5C>T Multiple submitters Inborn genetic diseases
- c.4360-14A>T Multiple submitters
- c.4360-16C>G Multiple submitters
- c.4594+16C>T Multiple submitters
- c.4595-7G>C Multiple submitters blepharophimosis-impaired intellectual development syndrome
- c.4737+13G>A Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- c.4737+18G>A Multiple submitters
- c.791-7C>T Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- p.Ala1064Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala282Thr Multiple submitters Inborn genetic diseases
- p.Ala630= Multiple submitters Inborn genetic diseases
- p.Arg1170= Multiple submitters
- p.Arg1246Gln Multiple submitters Inborn genetic diseases
- p.Arg1549Gln Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- p.Arg559= Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- p.Asp1313= Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- p.Asp1360Glu Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- p.Asp1573Asn Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- p.Asp1577= Multiple submitters Inborn genetic diseases
- p.Asp1588Glu Multiple submitters Inborn genetic diseases
- p.Asp82= Multiple submitters blepharophimosis-impaired intellectual development syndrome
- p.Gln222= Multiple submitters Inborn genetic diseases
- p.Gln223= Multiple submitters Inborn genetic diseases
- p.Gln226Pro Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- p.Gln227Pro Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- p.Gln230Pro Multiple submitters Inborn genetic diseases
- p.Gln232Pro Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- p.Gln234_Gln238del Multiple submitters Inborn genetic diseases
- p.Gln236= Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- p.Gln236_Gln238del Multiple submitters Inborn genetic diseases
- p.Gln237_Gln238del Multiple submitters Inborn genetic diseases
- p.Gln474= Multiple submitters Inborn genetic diseases
- p.Gln654= Multiple submitters Inborn genetic diseases
- p.Gln911= Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- p.Glu1053= Multiple submitters Inborn genetic diseases
- p.Glu360= Multiple submitters Inborn genetic diseases
- p.Gly1416Ala Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- p.His1032Tyr Multiple submitters Inborn genetic diseases
- p.His1459= Multiple submitters
- p.Ile1493= Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- p.Ile77= Multiple submitters Inborn genetic diseases
- p.Leu1094= Multiple submitters Inborn genetic diseases
- p.Leu1185= Multiple submitters Inborn genetic diseases
- p.Leu215= Multiple submitters
- p.Leu319= Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- p.Leu476= Multiple submitters
- p.Leu661= Multiple submitters
- p.Met70Ile Multiple submitters Inborn genetic diseases
- p.Pro1115Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro11Ser Multiple submitters Inborn genetic diseases
- p.Pro1281= Multiple submitters Inborn genetic diseases
- p.Pro153= Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- p.Pro161= Multiple submitters
- p.Pro17= Multiple submitters Inborn genetic diseases
- p.Pro171= Multiple submitters Inborn genetic diseases
- p.Pro199= Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- p.Pro239Leu Multiple submitters Inborn genetic diseases
- p.Pro33Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro579= Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- p.Ser1146= Multiple submitters Inborn genetic diseases
- p.Ser1419= Multiple submitters Inborn genetic diseases
- p.Ser1528= Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- p.Thr1480= Multiple submitters Inborn genetic diseases
- p.Thr1587= Multiple submitters Inborn genetic diseases
- p.Thr374= Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- p.Thr422= Multiple submitters Inborn genetic diseases
- p.Thr602= Multiple submitters Inborn genetic diseases
- p.Tyr693Cys Multiple submitters
- p.Val1403Met Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- p.Val1406= Multiple submitters
- p.Val1567Leu Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- p.Val712= Multiple submitters Inborn genetic diseases
- p.Val924= Multiple submitters
Likely benign 544
Showing the top 300 by review status; the full set is in the sitemap.
- c.1046+7C>T Multiple submitters
- c.1047-129G>A Multiple submitters
- c.1174-122T>C Multiple submitters
- c.1348-113C>G Multiple submitters
- c.1521+48G>A Multiple submitters
- c.1521+55A>G Multiple submitters
- c.1522-15T>C Multiple submitters
- c.1522-16C>T Multiple submitters
- c.1692+10C>G Multiple submitters
- c.1747-11C>A Multiple submitters
- c.1878-19C>T Multiple submitters
- c.1936-13G>T Multiple submitters
- c.2036+64T>C Multiple submitters
- c.2037-9C>T Multiple submitters
- c.2185-93A>G Multiple submitters
- c.225+11del Multiple submitters
- c.225+145G>A Multiple submitters
- c.226-123T>C Multiple submitters
- c.2883+107G>C Multiple submitters
- c.2991+19T>C Multiple submitters
- c.2992-13C>T Multiple submitters
- c.2992-19C>A Multiple submitters
- c.3125+13T>C Multiple submitters
- c.3292+35C>G Multiple submitters
- c.3292+99T>C Multiple submitters
- c.356-55T>C Multiple submitters
- c.3762+182G>A Multiple submitters
- c.3762+250A>G Multiple submitters
- c.3982-1814C>G Multiple submitters
- c.3982-24G>A Multiple submitters
- c.4200-57G>A Multiple submitters
- c.4253+135G>A Multiple submitters
- c.4253+18A>G Multiple submitters
- c.4253+9C>T Multiple submitters
- c.4254-20T>C Multiple submitters
- c.4461+13_4461+17del Multiple submitters
- c.4461+17del Multiple submitters
- c.*9G>C Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- p.Ala1064= Multiple submitters
- p.Ala576= Multiple submitters
- p.Ala717= Multiple submitters
- p.Ala748= Multiple submitters Inborn genetic diseases
- p.Arg1089= Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- p.Arg1095= Multiple submitters
- p.Arg1260= Multiple submitters Inborn genetic diseases
- p.Arg1306= Multiple submitters
- p.Arg1503= Multiple submitters
- p.Arg327= Multiple submitters Inborn genetic diseases
- p.Arg844= Multiple submitters
- p.Arg943= Multiple submitters
- p.Asn1193= Multiple submitters
- p.Asn1402= Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- p.Asn744= Multiple submitters
- p.Asn868= Multiple submitters
- p.Asp1353= Multiple submitters Inborn genetic diseases
- p.Asp673= Multiple submitters
- p.Asp684= Multiple submitters
- p.Cys1475= Multiple submitters
- p.Gln223fs Multiple submitters blepharophimosis-impaired intellectual development syndrome
- p.Gln225Pro Multiple submitters Inborn genetic diseases
- p.Gln227= Multiple submitters Inborn genetic diseases
- p.Gln235Pro Multiple submitters Inborn genetic diseases
- p.Gln238_Pro239insGlnGlnGlnGlnGln Multiple submitters Inborn genetic diseases
- p.Gln250His Multiple submitters Inborn genetic diseases
- p.Gln865= Multiple submitters
- p.Glu1575= Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- p.Glu1578Asp Multiple submitters Inborn genetic diseases
- p.Gly1164= Multiple submitters Inborn genetic diseases
- p.Gly881= Multiple submitters
- p.Leu1062= Multiple submitters Inborn genetic diseases
- p.Leu1078= Multiple submitters
- p.Leu1294= Multiple submitters Inborn genetic diseases
- p.Leu1343= Multiple submitters Inborn genetic diseases
- p.Leu606= Multiple submitters
- p.Leu718= Multiple submitters
- p.Leu891= Multiple submitters
- p.Phe1216= Multiple submitters
- p.Pro149= Multiple submitters Inborn genetic diseases
- p.Pro17Leu Multiple submitters Inborn genetic diseases
- p.Pro197= Multiple submitters
- p.Pro244Leu Multiple submitters Inborn genetic diseases
- p.Pro272= Multiple submitters
- p.Pro281= Multiple submitters Inborn genetic diseases
- p.Pro303= Multiple submitters Inborn genetic diseases
- p.Pro48Ser Multiple submitters Inborn genetic diseases
- p.Pro58Leu Multiple submitters
- p.Pro883= Multiple submitters Inborn genetic diseases
- p.Pro959= Multiple submitters
- p.Ser1572= Multiple submitters Inborn genetic diseases
- p.Ser39= Multiple submitters Inborn genetic diseases
- p.Ser737= Multiple submitters
- p.Thr1321= Multiple submitters Inborn genetic diseases
- p.Thr3= Multiple submitters
- p.Thr377= Multiple submitters
- p.Thr63Ser Multiple submitters Inborn genetic diseases
- p.Thr656= Multiple submitters
- p.Thr703= Multiple submitters
- p.Val134Ile Multiple submitters Inborn genetic diseases
- p.Val1498= Multiple submitters
- p.Val40Ile Multiple submitters Inborn genetic diseases
- p.Val850= Multiple submitters
- c.1046+11C>T Single submitter
- c.1047-13T>C Single submitter
- c.1047-17T>C Single submitter
- c.1173+10T>A Single submitter
- c.1173+130G>C Single submitter
- c.1173+13C>A Single submitter
- c.1173+13C>T Single submitter
- c.1173+15C>T Single submitter
- c.1173+274T>C Single submitter
- c.1173+299G>T Single submitter
- c.1173+8A>G Single submitter
- c.1174-7T>C Single submitter
- c.1174-8C>T Single submitter
- c.1347+12C>T Single submitter
- c.1347+206dup Single submitter
- c.1347+20T>C Single submitter
- c.1347+45G>T Single submitter
- c.1347+9A>C Single submitter
- c.1348-10G>A Single submitter
- c.1348-150G>C Single submitter
- c.1348-4C>G Single submitter
- c.1348-9A>G Single submitter
- c.1521+15G>T Single submitter
- c.1521+16C>T Single submitter
- c.1521+8A>G Single submitter
- c.1521+8del Single submitter
- c.1521+9C>G Single submitter
- c.1522-17T>C Single submitter
- c.1522-182G>A Single submitter
- c.1692+13G>C Single submitter
- c.1692+20T>C Single submitter
- c.1692+8T>C Single submitter
- c.1693-15A>G Single submitter
- c.1693-18G>A Single submitter
- c.1693-19C>G Single submitter
- c.1693-19C>T Single submitter
- c.1746+11G>A Single submitter
- c.1746+20T>G Single submitter
- c.1746+8A>G Single submitter
- c.1746+8A>T Single submitter
- c.1747-14T>G Single submitter
- c.1747-9C>T Single submitter
- c.1877+13A>G Single submitter
- c.1878-16C>T Single submitter
- c.1878-17dup Single submitter
- c.1878-17T>C Single submitter
- c.1878-27C>T Single submitter
- c.1878-4T>A Single submitter
- c.1878-7T>G Single submitter
- c.1878-8T>C Single submitter
- c.1935+10T>C Single submitter
- c.1935+11A>G Single submitter
- c.1935+13C>T Single submitter
- c.1935+17G>C Single submitter
- c.1935+17G>T Single submitter
- c.1935+23G>T Single submitter
- c.1936-10C>T Single submitter
- c.1936-19A>G Single submitter
- c.2036+19C>G Single submitter
- c.2036+217T>C Single submitter
- c.2184+45A>G Single submitter
- c.2184+5T>C Single submitter intellectual disability
- c.2185-234C>G Single submitter
- c.2185-271C>T Single submitter
- c.2185-45C>T Single submitter
- c.2185-8C>T Single submitter
- c.225+12T>C Single submitter
- c.225+7G>A Single submitter
- c.226-234AAAC[7] Single submitter
- c.226-234AAAC[8] Single submitter
- c.2348+12C>T Single submitter
- c.2348+14T>C Single submitter
- c.2348+312GT[19] Single submitter
- c.2348+312GT[20] Single submitter
- c.2348+312GT[23] Single submitter
- c.2348+9A>C Single submitter
- c.2349-14T>A Single submitter
- c.2349-16T>A Single submitter
- c.2349-19T>G Single submitter
- c.2415+11C>T Single submitter
- c.2415+18T>G Single submitter
- c.2416-143C>G Single submitter
- c.2416-5T>C Single submitter
- c.2526+11A>G Single submitter
- c.2526+17T>A Single submitter
- c.2526+19A>G Single submitter
- c.2526+214_2526+215insGGTGTG Single submitter
- c.2526+52T>G Single submitter
- c.2527-12C>T Single submitter
- c.2527-18C>T Single submitter
- c.2769+13G>A Single submitter
- c.2769+18G>A Single submitter
- c.2770-13G>A Single submitter
- c.2770-15A>G Single submitter
- c.2770-17A>G Single submitter
- c.2770-4dup Single submitter
- c.2883+14C>G Single submitter
- c.2883+203G>A Single submitter
- c.2883+271_2883+281dup Single submitter
- c.2883+27G>T Single submitter
- c.2883+37dup Single submitter
- c.2884-4G>A Single submitter
- c.2991+14G>C Single submitter
- c.2991+2T>C Single submitter
- c.2991+40A>G Single submitter
- c.2991+9C>G Single submitter
- c.2991+9C>T Single submitter
- c.2992-18C>G Single submitter
- c.2992-20C>T Single submitter
- c.2992-4T>G Single submitter
- c.3078+65dup Single submitter
- c.3078+9G>A Single submitter
- c.3079-139C>T Single submitter
- c.3079-17A>G Single submitter
- c.3079-18T>C Single submitter
- c.3125+16T>A Single submitter
- c.3125+21dup Single submitter
- c.3126-285T>C Single submitter
- c.3293-11G>C Single submitter
- c.3293-13del Single submitter
- c.3456+11C>G Single submitter
- c.3457-12C>T Single submitter
- c.3457-16T>C Single submitter
- c.3457-19A>G Single submitter
- c.3457-19A>T Single submitter
- c.3457-319T>C Single submitter
- c.3457-6A>G Single submitter
- c.3457-7C>G Single submitter
- c.355+10C>T Single submitter
- c.355+11G>A Single submitter
- c.355+18A>G Single submitter
- c.355+937G>A Single submitter
- c.355+9C>T Single submitter
- c.356-20C>T Single submitter
- c.356-220dup Single submitter
- c.3684+10A>T Single submitter
- c.3684+20G>C Single submitter
- c.3684+24A>T Single submitter
- c.3685-20C>G Single submitter
- c.3685-9T>C Single submitter
- c.3762+19A>T Single submitter
- c.3763-11_3763-10dup Single submitter
- c.3763-17C>T Single submitter
- c.3981+11C>A Single submitter
- c.3981+17T>C Single submitter
- c.3981+235G>A Single submitter
- c.3982-1108A>G Single submitter
- c.3982-11C>A Single submitter
- c.3982-11C>T Single submitter
- c.3982-13T>G Single submitter
- c.3982-1882dup Single submitter
- c.3982-20C>G Single submitter
- c.3982-2730A>G Single submitter
- c.3982-3819C>T Single submitter
- c.3982-6G>A Single submitter
- c.3982-7C>T Single submitter
- c.4199+11G>T Single submitter
- c.4200-12A>G Single submitter
- c.4200-131_4200-130insCTT Single submitter
- c.4200-14C>G Single submitter
- c.4253+12T>C Single submitter
- c.4253+16G>A Single submitter
- c.4254-10C>T Single submitter
- c.4254-15T>G Single submitter
- c.4254-319_4254-317dup Single submitter
- c.4254-4A>G Single submitter
- c.4359+12_4359+15dup Single submitter
- c.4359+126G>A Single submitter
- c.4359+17C>G Single submitter
- c.4359+7A>G Single submitter
- c.4360-10T>C Single submitter
- c.4360-16C>T Single submitter
- c.4360-9T>A Single submitter
- c.4461+10_4461+11del Single submitter
- c.4461+204G>A Single submitter
- c.4461+3C>G Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- c.4462-17C>A Single submitter
- c.4462-312A>G Single submitter
- c.4594+10G>C Single submitter
- c.4594+152G>T Single submitter
- c.4594+165C>T Single submitter
- c.4594+17G>A Single submitter
- c.4594+95C>A Single submitter
- c.4595-182C>G Single submitter
- c.4595-1G>C Single submitter
- c.4595-261_4595-254del Single submitter
- c.4595-48C>T Single submitter
- c.4737+11C>G Single submitter
- c.4737+17G>C Single submitter
- c.4737+18G>T Single submitter
- c.4737+20A>G Single submitter
- c.4737+3_4737+6dup Single submitter
- c.4738-12T>C Single submitter
- c.4738-14_4738-11dup Single submitter
- c.4738-15T>C Single submitter
- c.4738-17_4738-14del Single submitter
- c.4738-17_4738-15del Single submitter
- c.4738-271T>G Single submitter
- c.4738-281del Single submitter
Uncertain significance 566
Showing the top 300 by review status; the full set is in the sitemap.
- c.1692+3G>C Multiple submitters
- c.2527-3T>C Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- c.2991+4C>T Multiple submitters
- c.4200-2A>G Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- p.Ala1186Val Multiple submitters ⚠
- p.Ala1215Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala1389Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala414Thr Multiple submitters Coffin-Siris syndrome 1 ⚠
- p.Ala479Val Multiple submitters ⚠
- p.Arg1095Cys Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome ⚠
- p.Arg1266Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg1367Lys Multiple submitters ⚠
- p.Arg1421Gln Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome ⚠
- p.Arg427Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg515Thr Multiple submitters SMARCA2-related disorder ⚠
- p.Arg524Lys Multiple submitters SMARCA2-related disorder ⚠
- p.Asn1517_Glu1519del Multiple submitters
- p.Asp1153Val Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome ⚠
- p.Asp1205Glu Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome ⚠
- p.Asp1448Glu Multiple submitters SMARCA2-related disorder ⚠
- p.Asp1524_Glu1525del Multiple submitters
- p.Asp1545Val Multiple submitters ⚠
- p.Gln1411Ter Multiple submitters
- p.Gln231= Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome
- p.Glu1374Ala Multiple submitters ⚠
- p.Glu1509Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu1522_Glu1523del Multiple submitters
- p.Glu1531Lys Multiple submitters ⚠
- p.Gly285Cys Multiple submitters ⚠
- p.Gly304Trp Multiple submitters Inborn genetic diseases
- p.Ile1428fs Multiple submitters
- p.Ile1456Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile843Phe Multiple submitters Inborn genetic diseases ⚠
- p.Lys1460Gln Multiple submitters Inborn genetic diseases ⚠
- p.Met590Ile Multiple submitters Inborn genetic diseases ⚠
- p.Pro281Leu Multiple submitters ⚠
- p.Pro291Arg Multiple submitters ⚠
- p.Pro291Leu Multiple submitters ⚠
- p.Pro291Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro292Ser Multiple submitters ⚠
- p.Pro297Gln Multiple submitters Inborn genetic diseases ⚠
- p.Pro308Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ser1210Asn Multiple submitters
- p.Ser1501Arg Multiple submitters ⚠
- p.Ser1534Thr Multiple submitters ⚠
- p.Ser412Cys Multiple submitters Inborn genetic diseases ⚠
- p.Ser709Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser798Ala Multiple submitters ⚠
- p.Thr211Met Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome ⚠
- p.Thr274Pro Multiple submitters Inborn genetic diseases ⚠
- p.Thr422Ser Multiple submitters Inborn genetic diseases ⚠
- p.Thr5Ala Multiple submitters ⚠
- p.Thr807Ile Multiple submitters Inborn genetic diseases ⚠
- p.Tyr978Phe Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome ⚠
- p.Val1566Leu Multiple submitters intellectual disability-sparse hair-brachydactyly syndrome ⚠
- c.1046+5C>A Single submitter
- c.1173+3A>G Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- c.1347+16dup Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- c.1347+1G>A Single submitter
- c.1347+4C>T Single submitter
- c.1521+5G>A Single submitter
- c.1692+4C>G Single submitter
- c.1692+7A>C Single submitter
- c.1877+6G>A Single submitter
- c.1877+7C>T Single submitter
- c.1935+5G>A Single submitter
- c.1936-12T>A Single submitter
- c.2035_2036+2del Single submitter
- c.2185-8C>G Single submitter
- c.2415+3T>C Single submitter
- c.2416-4T>C Single submitter
- c.2526+1G>A Single submitter
- c.2770-3C>T Single submitter
- c.2883+3A>G Single submitter
- c.2991+5G>A Single submitter
- c.3079-11C>G Single submitter
- c.3079-1G>T Single submitter
- c.3456+22G>T Single submitter SMARCA2-related disorder
- c.355+918C>T Single submitter
- c.356-1G>C Single submitter
- c.3684+3A>G Single submitter
- c.3763-1230G>C Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- c.3981+11C>G Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- c.3982-1823C>T Single submitter
- c.3982-3795G>A Single submitter SMARCA2-related disorder
- c.3982-3799G>A Single submitter
- c.3982-4A>T Single submitter
- c.4199+3G>C Single submitter
- c.4199+8_4199+9delinsAG Single submitter
- c.4253+3C>T Single submitter
- c.4254-3C>T Single submitter
- c.4359+4G>A Single submitter
- c.4359+5A>G Single submitter
- c.4359+6T>C Single submitter
- c.4360-8T>A Single submitter
- c.4462-4T>A Single submitter
- c.4595-11T>A Single submitter
- c.4595-8_4595-4del Single submitter
- c.4738-7C>T Single submitter
- c.-37+1G>T Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- c.-56G>A Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- c.*101A>C Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- c.*16T>C Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- c.*192G>C Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- c.*197A>G Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- c.*204G>A Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- c.*230T>C Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- c.*307C>T Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- c.*489A>G Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- c.*537T>C Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- c.*587T>C Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- c.*5T>C Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- c.*670A>G Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- c.*694T>G Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- c.*765T>G Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- c.*782G>A Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- c.*80T>C Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- c.*876G>C Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- p.Ala1478Ser Single submitter Inborn genetic diseases ⚠
- p.Ala1478Thr Single submitter ⚠
- p.Ala1507Val Single submitter ⚠
- p.Ala155Ser Single submitter ⚠
- p.Ala1563Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1563Val Single submitter Inborn genetic diseases ⚠
- p.Ala255Thr Single submitter ⚠
- p.Ala290_Pro317del Single submitter
- p.Ala409Gly Single submitter ⚠
- p.Ala409Val Single submitter ⚠
- p.Ala485Val Single submitter ⚠
- p.Ala538Gly Single submitter ⚠
- p.Ala566Ser Single submitter ⚠
- p.Ala576Thr Single submitter ⚠
- p.Ala630Thr Single submitter ⚠
- p.Ala681Pro Single submitter ⚠
- p.Ala809Pro Single submitter ⚠
- p.Ala972Pro Single submitter intellectual disability-sparse hair-brachydactyly syndrome ⚠
- p.Ala9Val Single submitter intellectual disability-sparse hair-brachydactyly syndrome ⚠
- p.Arg1047Gln Single submitter ⚠
- p.Arg1057Cys Single submitter ⚠
- p.Arg1063Gly Single submitter ⚠
- p.Arg1089Gln Single submitter ⚠
- p.Arg1089Trp Single submitter ⚠
- p.Arg1095His Single submitter blepharophimosis-impaired intellectual development syndrome ⚠
- p.Arg1173Ser Single submitter ⚠
- p.Arg1245Ter Single submitter
- p.Arg1260Gln Single submitter ⚠
- p.Arg1270Trp Single submitter Inborn genetic diseases ⚠
- p.Arg1293Ser Single submitter SMARCA2-related disorder ⚠
- p.Arg1311Pro Single submitter ⚠
- p.Arg1342= Single submitter
- p.Arg1346Ter Single submitter
- p.Arg1349Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1349Ter Single submitter autism spectrum disorder
- p.Arg1367Thr Single submitter ⚠
- p.Arg1368Lys Single submitter ⚠
- p.Arg1433fs Single submitter
- p.Arg1444delinsIleLysGluArgIleThrArgIleLeuTer Single submitter
- p.Arg1444Lys Single submitter ⚠
- p.Arg1455Ser Single submitter ⚠
- p.Arg1455Thr Single submitter ⚠
- p.Arg1457His Single submitter ⚠
- p.Arg1462Gly Single submitter ⚠
- p.Arg1503Trp Single submitter blepharophimosis-impaired intellectual development syndrome ⚠
- p.Arg1549_Gly1552del Single submitter
- p.Arg1579Cys Single submitter ⚠
- p.Arg261Lys Single submitter ⚠
- p.Arg261Thr Single submitter ⚠
- p.Arg286Leu Single submitter
- p.Arg346Gln Single submitter ⚠
- p.Arg384Trp Single submitter ⚠
- p.Arg417Trp Single submitter ⚠
- p.Arg420Leu Single submitter blepharophimosis-impaired intellectual development syndrome ⚠
- p.Arg442Lys Single submitter ⚠
- p.Arg497= Single submitter
- p.Arg561_Arg562del Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- p.Arg562_Lys563insArg Single submitter
- p.Arg811Cys Single submitter intellectual disability-sparse hair-brachydactyly syndrome ⚠
- p.Arg812Cys Single submitter ⚠
- p.Arg812His Single submitter ⚠
- p.Arg819Trp Single submitter ⚠
- p.Arg876Ser Single submitter ⚠
- p.Arg936Gly Single submitter ⚠
- p.Arg948Ser Single submitter ⚠
- p.Asn1041Ser Single submitter Inborn genetic diseases ⚠
- p.Asn1090Ser Single submitter Inborn genetic diseases ⚠
- p.Asn1193Lys Single submitter ⚠
- p.Asn1379His Single submitter ⚠
- p.Asn1517Lys Single submitter ⚠
- p.Asn168Asp Single submitter Inborn genetic diseases ⚠
- p.Asn411Ser Single submitter ⚠
- p.Asn486Lys Single submitter intellectual disability ⚠
- p.Asn542Asp Single submitter ⚠
- p.Asn542Ser Single submitter ⚠
- p.Asn740Ser Single submitter ⚠
- p.Asp1084Glu Single submitter intellectual disability-sparse hair-brachydactyly syndrome ⚠
- p.Asp1195Gly Single submitter Inborn genetic diseases ⚠
- p.Asp1236Asn Single submitter Inborn genetic diseases ⚠
- p.Asp1236Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp1257Ala Single submitter ⚠
- p.Asp1313Glu Single submitter Inborn genetic diseases
- p.Asp1399Gly Single submitter ⚠
- p.Asp1399His Single submitter ⚠
- p.Asp1470Asn Single submitter ⚠
- p.Asp1491His Single submitter ⚠
- p.Asp1491Tyr Single submitter ⚠
- p.Asp1514His Single submitter ⚠
- p.Asp1571Gly Single submitter
- p.Asp1577Gly Single submitter Inborn genetic diseases ⚠
- p.Asp1589Glu Single submitter Inborn genetic diseases ⚠
- p.Asp1589His Single submitter intellectual disability-sparse hair-brachydactyly syndrome ⚠
- p.Asp338Glu Single submitter ⚠
- p.Asp403Gly Single submitter ⚠
- p.Asp523Glu Single submitter ⚠
- p.Asp646Val Single submitter ⚠
- p.Asp663Tyr Single submitter ⚠
- p.Asp82Glu Single submitter ⚠
- p.Asp836Asn Single submitter ⚠
- p.Asp836Glu Single submitter intellectual disability-sparse hair-brachydactyly syndrome ⚠
- p.Asp88Gly Single submitter ⚠
- p.Cys1296Phe Single submitter ⚠
- p.Cys1475Ser Single submitter ⚠
- p.Gln1011Arg Single submitter ⚠
- p.Gln115Leu Single submitter ⚠
- p.Gln1196Ter Single submitter
- p.Gln1386fs Single submitter
- p.Gln1422Lys Single submitter ⚠
- p.Gln1429Arg Single submitter
- p.Gln147Arg Single submitter Inborn genetic diseases ⚠
- p.Gln147His Single submitter Inborn genetic diseases ⚠
- p.Gln1496Lys Single submitter Inborn genetic diseases ⚠
- p.Gln166Arg Single submitter ⚠
- p.Gln166His Single submitter ⚠
- p.Gln219Ter Single submitter
- p.Gln230_Gln231insPro Single submitter
- p.Gln231_Gln242del Single submitter
- p.Gln231Ter Single submitter
- p.Gln233= Single submitter intellectual disability-sparse hair-brachydactyly syndrome
- p.Gln237Lys Single submitter ⚠
- p.Gln237Pro Single submitter ⚠
- p.Gln238_Pro239insGlnGlnGlnGln Single submitter
- p.Gln245_Pro246insGlnProProGln Single submitter
- p.Gln245del Single submitter
- p.Gln245Glu Single submitter ⚠
- p.Gln251Lys Single submitter ⚠
- p.Gln253del Single submitter
- p.Gln276Pro Single submitter ⚠
- p.Gln296_Ala301del Single submitter
- p.Gln296Arg Single submitter Inborn genetic diseases ⚠
- p.Gln332His Single submitter ⚠
- p.Gln332Pro Single submitter ⚠
- p.Gln332Ter Single submitter
- p.Gln335Arg Single submitter Inborn genetic diseases ⚠
- p.Gln344Glu Single submitter ⚠
- p.Gln351Glu Single submitter ⚠
- p.Gln394Arg Single submitter ⚠
- p.Gln436His Single submitter ⚠
- p.Gln616Ter Single submitter
- p.Gln676Leu Single submitter ⚠
- p.Gln730His Single submitter
- p.Glu1232Lys Single submitter ⚠
- p.Glu1277Lys Single submitter intellectual disability-sparse hair-brachydactyly syndrome ⚠
- p.Glu1298Asp Single submitter ⚠
- p.Glu1330Lys Single submitter ⚠
- p.Glu1362Ter Single submitter
- p.Glu1404Asp Single submitter ⚠
- p.Glu1413Lys Single submitter ⚠
- p.Glu1415Lys Single submitter ⚠
- p.Glu1425= Single submitter
- p.Glu1425Ala Single submitter
- p.Glu1438Ala Single submitter ⚠
- p.Glu1441Gln Single submitter ⚠
- p.Glu1454Gly Single submitter ⚠
- p.Glu1509Gln Single submitter intellectual disability-sparse hair-brachydactyly syndrome ⚠
- p.Glu1510Gln Single submitter ⚠
- p.Glu1513Asp Single submitter ⚠
- p.Glu1518_Glu1519insAspAsnGlu Single submitter
- p.Glu1523_Asp1524insGluGlu Single submitter
- p.Glu1525Lys Single submitter Inborn genetic diseases ⚠
- p.Glu1529Gln Single submitter ⚠
- p.Glu1574Asp Single submitter Inborn genetic diseases ⚠
- p.Glu1575Gln Single submitter ⚠
- p.Glu1590Lys Single submitter ⚠
- p.Glu200Lys Single submitter Inborn genetic diseases ⚠
- p.Glu433Gln Single submitter ⚠
- p.Glu496Asp Single submitter ⚠
- p.Glu512Lys Single submitter ⚠
- p.Glu555Gly Single submitter ⚠
- p.Glu586Asp Single submitter ⚠
- p.Glu622Ter Single submitter
- p.Glu628Ala Single submitter ⚠
- p.Glu644Ala Single submitter ⚠
- p.Glu650Gly Single submitter ⚠
- p.Glu668Asp Single submitter ⚠
- p.Glu750Gln Single submitter ⚠
- p.Glu768Val Single submitter Inborn genetic diseases ⚠
- p.Glu922Lys Single submitter intellectual disability-sparse hair-brachydactyly syndrome ⚠
- p.Glu960Lys Single submitter ⚠
- p.Gly105Ala Single submitter ⚠
- p.Gly1098Arg Single submitter ⚠
- p.Gly1116Ala Single submitter ⚠