CHD1 — 501 ClinVar variants
All ClinVar germline CHD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 302 flagged for review →
5 Pathogenic · 7 Likely pathogenic · 14 Conflicting · 8 Benign · 4 Benign/Likely benign · 79 Likely benign · 384 Uncertain significance
Full CHD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 302
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 8
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- CHD1 p.Ala1077Thr Conflicting Single submitter
- CHD1 p.Arg1560Gln Conflicting Single submitter
- CHD1 p.Arg281Trp Conflicting Single submitter
- CHD1 p.Asn1467Asp Conflicting Single submitter
-
CHD1 p.Glu85Gln
Conflicting
Single submitter
complex neurodevelopmental disorder
-
CHD1 p.Lys1333Arg
Conflicting
Single submitter
Pilarowski-Bjornsson syndrome
-
CHD1 p.Ser966Ala
Conflicting
Single submitter
Pilarowski-Bjornsson syndrome
- CHD1 p.Tyr225His Conflicting Single submitter
Predictors lean, ClinVar uncertain 212
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 212
- CHD1 p.Arg1378Gly Uncertain significance Multiple submitters
-
CHD1 p.Asn1518His
Uncertain significance
Multiple submitters
Pilarowski-Bjornsson syndrome
-
CHD1 p.Asn557Lys
Uncertain significance
Multiple submitters
Pilarowski-Bjornsson syndrome
- CHD1 p.Asn566Ser Uncertain significance Multiple submitters
-
CHD1 p.Asp221Val
Uncertain significance
Multiple submitters
Pilarowski-Bjornsson syndrome
- CHD1 p.Glu65Lys Uncertain significance Multiple submitters
-
CHD1 p.Pro91Ser
Uncertain significance
Multiple submitters
Pilarowski-Bjornsson syndrome
- CHD1 p.Ser1617Leu Uncertain significance Multiple submitters
- CHD1 p.Thr1394Ala Uncertain significance Multiple submitters
-
CHD1 p.Tyr1598His
Uncertain significance
Multiple submitters
Pilarowski-Bjornsson syndrome
-
CHD1 p.Ala1246Val
Uncertain significance
Single submitter
neurodevelopmental disorder
- CHD1 p.Ala435Ser Uncertain significance Single submitter
-
CHD1 p.Ala779Val
Uncertain significance
Single submitter
Pilarowski-Bjornsson syndrome
- CHD1 p.Arg1038Gly Uncertain significance Single submitter
-
CHD1 p.Arg1038Ile
Uncertain significance
Single submitter
Pilarowski-Bjornsson syndrome
- CHD1 p.Arg1089Pro Uncertain significance Single submitter
- CHD1 p.Arg1116Trp Uncertain significance Single submitter
- CHD1 p.Arg1166Lys Uncertain significance Single submitter
- CHD1 p.Arg1305Cys Uncertain significance Single submitter
-
CHD1 p.Arg141Gly
Uncertain significance
Single submitter
Pilarowski-Bjornsson syndrome
- CHD1 p.Arg1448Thr Uncertain significance Single submitter
- CHD1 p.Arg361Thr Uncertain significance Single submitter
-
CHD1 p.Arg393Cys
Uncertain significance
Single submitter
Pilarowski-Bjornsson syndrome
- CHD1 p.Arg460Thr Uncertain significance Single submitter
- CHD1 p.Arg696His Uncertain significance Single submitter
- CHD1 p.Arg715Gly Uncertain significance Single submitter
- CHD1 p.Arg827Cys Uncertain significance Single submitter
-
CHD1 p.Arg833Ser
Uncertain significance
Single submitter
CHD1-related disorder
- CHD1 p.Asn1042Ile Uncertain significance Single submitter
- CHD1 p.Asn1042Lys Uncertain significance Single submitter
- CHD1 p.Asn1122Ser Uncertain significance Single submitter
- CHD1 p.Asn1339His Uncertain significance Single submitter
- CHD1 p.Asn1339Lys Uncertain significance Single submitter
- CHD1 p.Asn569Ser Uncertain significance Single submitter
- CHD1 p.Asn961Ser Uncertain significance Single submitter
- CHD1 p.Asp1031Gly Uncertain significance Single submitter
- CHD1 p.Asp1050Tyr Uncertain significance Single submitter
- CHD1 p.Asp125Val Uncertain significance Single submitter
- CHD1 p.Asp131Gly Uncertain significance Single submitter
- CHD1 p.Asp131His Uncertain significance Single submitter
- CHD1 p.Asp133Gly Uncertain significance Single submitter
- CHD1 p.Asp134Gly Uncertain significance Single submitter
- CHD1 p.Asp1376His Uncertain significance Single submitter
- CHD1 p.Asp1388Gly Uncertain significance Single submitter
- CHD1 p.Asp1537Asn Uncertain significance Single submitter
- CHD1 p.Asp1547Glu Uncertain significance Single submitter
-
CHD1 p.Asp176Gly
Uncertain significance
Single submitter
Pilarowski-Bjornsson syndrome
-
CHD1 p.Asp219Val
Uncertain significance
Single submitter
Pilarowski-Bjornsson syndrome
- CHD1 p.Asp228His Uncertain significance Single submitter
-
CHD1 p.Asp228Tyr
Uncertain significance
Single submitter
Pilarowski-Bjornsson syndrome
- CHD1 p.Asp262Asn Uncertain significance Single submitter
-
CHD1 p.Asp356Tyr
Uncertain significance
Single submitter
Pilarowski-Bjornsson syndrome
- CHD1 p.Asp383Asn Uncertain significance Single submitter
- CHD1 p.Asp383Gly Uncertain significance Single submitter
- CHD1 p.Asp41Val Uncertain significance Single submitter
- CHD1 p.Asp564Glu Uncertain significance Single submitter
- CHD1 p.Asp632Val Uncertain significance Single submitter
- CHD1 p.Asp818His Uncertain significance Single submitter
- CHD1 p.Asp885Asn Uncertain significance Single submitter
-
CHD1 p.Asp993Glu
Uncertain significance
Single submitter
Pilarowski-Bjornsson syndrome
- CHD1 p.Cys175Tyr Uncertain significance Single submitter
- CHD1 p.Cys436Tyr Uncertain significance Single submitter
- CHD1 p.Cys502Phe Uncertain significance Single submitter
- CHD1 p.Gln108His Uncertain significance Single submitter
- CHD1 p.Gln115Arg Uncertain significance Single submitter
- CHD1 p.Gln1301Arg Uncertain significance Single submitter
- CHD1 p.Gln1470Arg Uncertain significance Single submitter
- CHD1 p.Gln1473His Uncertain significance Single submitter
- CHD1 p.Gln1513His Uncertain significance Single submitter
- CHD1 p.Gln1552His Uncertain significance Single submitter
- CHD1 p.Gln1593Pro Uncertain significance Single submitter
- CHD1 p.Gln1681Arg Uncertain significance Single submitter
-
CHD1 p.Gln389Lys
Uncertain significance
Single submitter
Pilarowski-Bjornsson syndrome
-
CHD1 p.Gln812Glu
Uncertain significance
Single submitter
Pilarowski-Bjornsson syndrome
- CHD1 p.Glu1044Asp Uncertain significance Single submitter
- CHD1 p.Glu1058Gln Uncertain significance Single submitter
-
CHD1 p.Glu1130Ala
Uncertain significance
Single submitter
Pilarowski-Bjornsson syndrome
- CHD1 p.Glu1146Gln Uncertain significance Single submitter
- CHD1 p.Glu1350Val Uncertain significance Single submitter
- CHD1 p.Glu1361Lys Uncertain significance Single submitter
- CHD1 p.Glu1408Asp Uncertain significance Single submitter
- CHD1 p.Glu1532Gly Uncertain significance Single submitter
- CHD1 p.Glu165Gln Uncertain significance Single submitter
- CHD1 p.Glu168Gly Uncertain significance Single submitter
- CHD1 p.Glu169Gln Uncertain significance Single submitter
- CHD1 p.Glu1702Gly Uncertain significance Single submitter
- CHD1 p.Glu179Gly Uncertain significance Single submitter
- CHD1 p.Glu183Lys Uncertain significance Single submitter
- CHD1 p.Glu268Ala Uncertain significance Single submitter
- CHD1 p.Glu372Lys Uncertain significance Single submitter
- CHD1 p.Glu754Gln Uncertain significance Single submitter
- CHD1 p.Gly1087Ala Uncertain significance Single submitter
- CHD1 p.Gly1186Ala Uncertain significance Single submitter
- CHD1 p.Gly121Arg Uncertain significance Single submitter
-
CHD1 p.Gly121Val
Uncertain significance
Single submitter
Pilarowski-Bjornsson syndrome
- CHD1 p.Gly1327Ala Uncertain significance Single submitter
-
CHD1 p.Gly153Glu
Uncertain significance
Single submitter
Pilarowski-Bjornsson syndrome
- CHD1 p.Gly161Asp Uncertain significance Single submitter
- CHD1 p.Gly31Ala Uncertain significance Single submitter
- CHD1 p.Gly474Ala Uncertain significance Single submitter
- CHD1 p.Gly605Asp Uncertain significance Single submitter
- CHD1 p.Gly743Cys Uncertain significance Single submitter
-
CHD1 p.His114Tyr
Uncertain significance
Single submitter
Pilarowski-Bjornsson syndrome
- CHD1 p.His1243Arg Uncertain significance Single submitter
-
CHD1 p.His1549Pro
Uncertain significance
Single submitter
Pilarowski-Bjornsson syndrome
- CHD1 p.His1554Arg Uncertain significance Single submitter
-
CHD1 p.His1585Tyr
Uncertain significance
Single submitter
Pilarowski-Bjornsson syndrome
-
CHD1 p.His1628Leu
Uncertain significance
Single submitter
Pilarowski-Bjornsson syndrome
- CHD1 p.His1661Tyr Uncertain significance Single submitter
-
CHD1 p.His476Tyr
Uncertain significance
Single submitter
CHD1-related disorder
- CHD1 p.His578Pro Uncertain significance Single submitter
- CHD1 p.His578Tyr Uncertain significance Single submitter
- CHD1 p.Ile1151Val Uncertain significance Single submitter
- CHD1 p.Ile1228Val Uncertain significance Single submitter
- CHD1 p.Ile1263Thr Uncertain significance Single submitter
- CHD1 p.Ile1310Leu Uncertain significance Single submitter
-
CHD1 p.Ile1310Phe
Uncertain significance
Single submitter
Pilarowski-Bjornsson syndrome
- CHD1 p.Ile1393Val Uncertain significance Single submitter
- CHD1 p.Ile429Val Uncertain significance Single submitter
- CHD1 p.Ile473Val Uncertain significance Single submitter
- CHD1 p.Ile565Val Uncertain significance Single submitter
- CHD1 p.Ile809Phe Uncertain significance Single submitter
- CHD1 p.Leu1168Val Uncertain significance Single submitter
-
CHD1 p.Leu1462Gln
Uncertain significance
Single submitter
Pilarowski-Bjornsson syndrome
-
CHD1 p.Leu1517Phe
Uncertain significance
Single submitter
Pilarowski-Bjornsson syndrome
- CHD1 p.Leu1530Ser Uncertain significance Single submitter
- CHD1 p.Leu1607Arg Uncertain significance Single submitter
- CHD1 p.Leu562Ile Uncertain significance Single submitter
-
CHD1 p.Leu603Val
Uncertain significance
Single submitter
Pilarowski-Bjornsson syndrome
-
CHD1 p.Leu626Val
Uncertain significance
Single submitter
Pilarowski-Bjornsson syndrome
- CHD1 p.Leu657Pro Uncertain significance Single submitter
- CHD1 p.Leu834Ser Uncertain significance Single submitter
-
CHD1 p.Leu869Pro
Uncertain significance
Single submitter
Pilarowski-Bjornsson syndrome
-
CHD1 p.Leu948Val
Uncertain significance
Single submitter
Pilarowski-Bjornsson syndrome
- CHD1 p.Lys103Asn Uncertain significance Single submitter
- CHD1 p.Lys1181Glu Uncertain significance Single submitter
- CHD1 p.Lys1346Asn Uncertain significance Single submitter
- CHD1 p.Lys143Asn Uncertain significance Single submitter
- CHD1 p.Lys1653Arg Uncertain significance Single submitter
- CHD1 p.Lys1698Arg Uncertain significance Single submitter
- CHD1 p.Lys187Arg Uncertain significance Single submitter
- CHD1 p.Lys198Glu Uncertain significance Single submitter
-
CHD1 p.Lys203Gln
Uncertain significance
Single submitter
Pilarowski-Bjornsson syndrome
- CHD1 p.Lys249Arg Uncertain significance Single submitter
- CHD1 p.Lys431Arg Uncertain significance Single submitter
- CHD1 p.Lys628Thr Uncertain significance Single submitter
- CHD1 p.Lys80Asn Uncertain significance Single submitter
- CHD1 p.Lys80Glu Uncertain significance Single submitter
- CHD1 p.Lys927Ile Uncertain significance Single submitter
- CHD1 p.Lys997Arg Uncertain significance Single submitter
Predictors split 82
The independent predictors disagree with each other — read with care.
-
CHD1 p.Arg1659Thr
Uncertain significance
Multiple submitters
Pilarowski-Bjornsson syndrome
- CHD1 p.Arg1676Gly Uncertain significance Multiple submitters
- CHD1 p.Arg1708Trp Uncertain significance Multiple submitters
- CHD1 p.Glu669Val Benign/Likely benign Multiple submitters
-
CHD1 p.Gly1113Arg
Uncertain significance
Multiple submitters
Pilarowski-Bjornsson syndrome
- CHD1 p.Ile819Val Uncertain significance Multiple submitters
- CHD1 p.Ser60Gly Uncertain significance Multiple submitters
- CHD1 p.Ala1247Thr Uncertain significance Single submitter
- CHD1 p.Ala1299Thr Uncertain significance Single submitter
- CHD1 p.Ala287Val Uncertain significance Single submitter
- CHD1 p.Ala609Pro Uncertain significance Single submitter
-
CHD1 p.Arg1112Leu
Uncertain significance
Single submitter
Pilarowski-Bjornsson syndrome
-
CHD1 p.Arg1203Gln
Uncertain significance
Single submitter
Pilarowski-Bjornsson syndrome
- CHD1 p.Arg1632His Uncertain significance Single submitter
- CHD1 p.Arg1638Gln Uncertain significance Single submitter
- CHD1 p.Arg1638Trp Uncertain significance Single submitter
- CHD1 p.Arg1644Gln Uncertain significance Single submitter
- CHD1 p.Arg1644Gly Uncertain significance Single submitter
- CHD1 p.Arg191Thr Benign Single submitter
-
CHD1 p.Arg361Ile
Uncertain significance
Single submitter
Pilarowski-Bjornsson syndrome
- CHD1 p.Arg583Gln Uncertain significance Single submitter
- CHD1 p.Arg583Trp Uncertain significance Single submitter
-
CHD1 p.Arg785Cys
Uncertain significance
Single submitter
Pilarowski-Bjornsson syndrome
- CHD1 p.Arg827His Uncertain significance Single submitter
-
CHD1 p.Asp1164Ala
Uncertain significance
Single submitter
Pilarowski-Bjornsson syndrome
- CHD1 p.Asp1432His Uncertain significance Single submitter
- CHD1 p.Asp1489Asn Uncertain significance Single submitter
- CHD1 p.Asp1663Gly Uncertain significance Single submitter
- CHD1 p.Asp251Glu Uncertain significance Single submitter
- CHD1 p.Cys1076Tyr Uncertain significance Single submitter
- CHD1 p.Gln1430Arg Uncertain significance Single submitter
- CHD1 p.Gln445Pro Uncertain significance Single submitter
- CHD1 p.Gln712Arg Uncertain significance Single submitter
- CHD1 p.Glu1014Lys Uncertain significance Single submitter
- CHD1 p.Glu1066Lys Uncertain significance Single submitter
- CHD1 p.Glu1442Asp Uncertain significance Single submitter
-
CHD1 p.Glu663Gly
Uncertain significance
Single submitter
Pilarowski-Bjornsson syndrome
- CHD1 p.Glu669Lys Uncertain significance Single submitter
- CHD1 p.Gly1097Glu Uncertain significance Single submitter
- CHD1 p.Gly676Cys Uncertain significance Single submitter
-
CHD1 p.Gly854Val
Uncertain significance
Single submitter
Pilarowski-Bjornsson syndrome
- CHD1 p.Gly951Arg Uncertain significance Single submitter
- CHD1 p.His1457Arg Uncertain significance Single submitter
- CHD1 p.His1499Leu Uncertain significance Single submitter
- CHD1 p.His525Arg Uncertain significance Single submitter
-
CHD1 p.Ile660Val
Likely pathogenic
Single submitter
Pilarowski-Bjornsson syndrome
- CHD1 p.Ile93Ser Uncertain significance Single submitter
- CHD1 p.Leu1444Val Uncertain significance Single submitter
- CHD1 p.Leu834Phe Uncertain significance Single submitter
- CHD1 p.Lys1709Thr Uncertain significance Single submitter
- CHD1 p.Lys243Asn Uncertain significance Single submitter
- CHD1 p.Lys243Glu Uncertain significance Single submitter
- CHD1 p.Lys447Asn Uncertain significance Single submitter
-
CHD1 p.Lys664Asn
Likely benign
Single submitter
Pilarowski-Bjornsson syndrome
- CHD1 p.Lys88Ile Uncertain significance Single submitter
- CHD1 p.Met1278Ile Uncertain significance Single submitter
- CHD1 p.Phe633Leu Uncertain significance Single submitter
- CHD1 p.Phe86Val Uncertain significance Single submitter
-
CHD1 p.Pro1232Thr
Uncertain significance
Single submitter
Pilarowski-Bjornsson syndrome
- CHD1 p.Pro1423Ser Uncertain significance Single submitter
-
CHD1 p.Ser154Leu
Uncertain significance
Single submitter
Pilarowski-Bjornsson syndrome
-
CHD1 p.Ser1571Cys
Uncertain significance
Single submitter
Pilarowski-Bjornsson syndrome
- CHD1 p.Ser158Phe Uncertain significance Single submitter
-
CHD1 p.Ser1629Cys
Conflicting
Single submitter
Pilarowski-Bjornsson syndrome
- CHD1 p.Ser216Cys Uncertain significance Single submitter
- CHD1 p.Ser216Phe Uncertain significance Single submitter
- CHD1 p.Ser241Arg Uncertain significance Single submitter
- CHD1 p.Ser30Phe Uncertain significance Single submitter
- CHD1 p.Ser30Thr Uncertain significance Single submitter
- CHD1 p.Ser34Leu Uncertain significance Single submitter
- CHD1 p.Ser398Cys Uncertain significance Single submitter
- CHD1 p.Ser501Gly Uncertain significance Single submitter
- CHD1 p.Ser54Ala Uncertain significance Single submitter
- CHD1 p.Ser64Cys Uncertain significance Single submitter
- CHD1 p.Thr1201Arg Uncertain significance Single submitter
- CHD1 p.Thr292Ala Uncertain significance Single submitter
- CHD1 p.Tyr1660Cys Uncertain significance Single submitter
- CHD1 p.Val464Glu Uncertain significance Single submitter
-
CHD1 p.Arg1541Ser
Uncertain significance
No assertion criteria
CHD1-related disorder
-
CHD1 p.Arg1632Gly
Uncertain significance
No assertion criteria
Pilarowski-Bjornsson syndrome
-
CHD1 p.Arg460Lys
Pathogenic
No assertion criteria
Pilarowski-Bjornsson syndrome
-
CHD1 p.Pro768Ser
Uncertain significance
No assertion criteria
CHD1-related disorder
All CHD1 variants
Pathogenic 5
- p.Glu65Ter Single submitter developmental and epileptic encephalopathy
- p.His1499fs Single submitter Pilarowski-Bjornsson syndrome
- p.Pro1297fs Single submitter
- p.Arg460Lys No assertion criteria Pilarowski-Bjornsson syndrome ⚠
- p.Arg618Gln No assertion criteria Pilarowski-Bjornsson syndrome
Likely pathogenic 7
- p.Gln378fs Single submitter
- p.Glu1045Lys Single submitter Pilarowski-Bjornsson syndrome
- p.Ile660Val Single submitter Pilarowski-Bjornsson syndrome ⚠
- p.Pro368fs Single submitter Pilarowski-Bjornsson syndrome
- p.Ser164fs Single submitter Pilarowski-Bjornsson syndrome
- p.Ser215fs Single submitter Pilarowski-Bjornsson syndrome
- p.Ser705fs Single submitter Pilarowski-Bjornsson syndrome
Conflicting classifications of pathogenicity 14
- c.2569-11A>G Single submitter Pilarowski-Bjornsson syndrome
- c.2964+3A>G Single submitter Pilarowski-Bjornsson syndrome
- c.4577-6T>C Single submitter
- p.Ala1077Thr Single submitter ⚠
- p.Arg1560Gln Single submitter ⚠
- p.Arg281Trp Single submitter ⚠
- p.Asn1467Asp Single submitter ⚠
- p.Glu223del Single submitter
- p.Glu85Gln Single submitter complex neurodevelopmental disorder ⚠
- p.Lys1333Arg Single submitter Pilarowski-Bjornsson syndrome ⚠
- p.Lys1653Thr Single submitter
- p.Ser1629Cys Single submitter Pilarowski-Bjornsson syndrome ⚠
- p.Ser966Ala Single submitter Pilarowski-Bjornsson syndrome ⚠
- p.Tyr225His Single submitter ⚠
Benign 8
- c.1991+16A>G Single submitter
- c.2497-31_2497-30insA Single submitter
- p.Arg191Thr Single submitter ⚠
- p.Ile995Val Single submitter
- p.Leu1619= Single submitter
- p.Pro1684del Single submitter
- p.Thr1650Met Single submitter
- p.Val96Ile Single submitter
Benign/Likely benign 4
- p.Glu669Val Multiple submitters ⚠
- p.Ile1345Val Multiple submitters Pilarowski-Bjornsson syndrome
- p.Leu457= Multiple submitters Pilarowski-Bjornsson syndrome
- p.Thr745= Multiple submitters
Likely benign 79
- c.3441-19T>C Multiple submitters
- p.Asp219Glu Multiple submitters
- p.Glu986= Multiple submitters
- p.His1561Tyr Multiple submitters complex neurodevelopmental disorder
- c.1365+10G>A Single submitter
- c.1365+19T>C Single submitter
- c.1365+7A>G Single submitter
- c.2180+18C>T Single submitter
- c.256-4A>G Single submitter
- c.2867+8del Single submitter
- c.2964+20_2964+26del Single submitter
- c.4427+14T>C Single submitter
- c.4524+12A>G Single submitter
- c.4525-18C>T Single submitter
- c.4787+20T>C Single submitter
- c.4788-15A>G Single submitter
- p.Ala1500= Single submitter
- p.Ala299Thr Single submitter
- p.Arg1167= Single submitter
- p.Arg11Gly Single submitter
- p.Arg1331= Single submitter
- p.Arg1504= Single submitter
- p.Arg1659= Single submitter
- p.Asn1618= Single submitter
- p.Asn227Asp Single submitter Pilarowski-Bjornsson syndrome
- p.Asn399= Single submitter
- p.Asn444= Single submitter
- p.Asp1307= Single submitter
- p.Gln106= Single submitter
- p.Gln110= Single submitter
- p.Gln112= Single submitter
- p.Gln1593= Single submitter
- p.Gln828= Single submitter
- p.Glu1398= Single submitter
- p.Glu244= Single submitter
- p.Glu575= Single submitter
- p.Glu65= Single submitter
- p.Gly1169= Single submitter
- p.Gly426= Single submitter
- p.Gly478= Single submitter
- p.His327= Single submitter
- p.His476= Single submitter
- p.Ile1310= Single submitter
- p.Ile819= Single submitter
- p.Leu1194= Single submitter
- p.Leu1221= Single submitter
- p.Leu255= Single submitter
- p.Leu428= Single submitter
- p.Lys1429= Single submitter
- p.Lys210Arg Single submitter
- p.Lys323= Single submitter
- p.Lys664Asn Single submitter Pilarowski-Bjornsson syndrome ⚠
- p.Phe1082= Single submitter
- p.Phe1691fs Single submitter Pilarowski-Bjornsson syndrome
- p.Phe971= Single submitter
- p.Pro1200= Single submitter
- p.Pro1241= Single submitter
- p.Pro1357del Single submitter
- p.Pro954= Single submitter
- p.Ser1127Asn Single submitter
- p.Ser120= Single submitter
- p.Ser132= Single submitter
- p.Ser152= Single submitter
- p.Ser164= Single submitter
- p.Ser174= Single submitter
- p.Ser471= Single submitter
- p.Thr1394= Single submitter
- p.Thr577Met Single submitter
- p.Thr68= Single submitter
- p.Tyr774Phe Single submitter
- p.Val1172= Single submitter
- p.Val1347= Single submitter
- p.Ala1336= No assertion criteria CHD1-related disorder
- p.Arg276= No assertion criteria CHD1-related disorder
- p.Asp1512Gly No assertion criteria CHD1-related disorder
- p.Gln1562Ter No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
- p.Glu1407= No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
- p.Glu177Gly No assertion criteria Neurodevelopmental abnormality
- p.Tyr593= No assertion criteria CHD1-related disorder
Uncertain significance 384
Showing the top 300 by review status; the full set is in the sitemap.
- p.Arg1378Gly Multiple submitters ⚠
- p.Arg1659Thr Multiple submitters Pilarowski-Bjornsson syndrome ⚠
- p.Arg1676Gly Multiple submitters ⚠
- p.Arg1708Gln Multiple submitters Pilarowski-Bjornsson syndrome
- p.Arg1708Trp Multiple submitters ⚠
- p.Arg233His Multiple submitters Pilarowski-Bjornsson syndrome
- p.Arg70Ter Multiple submitters
- p.Asn1518His Multiple submitters Pilarowski-Bjornsson syndrome ⚠
- p.Asn557Lys Multiple submitters Pilarowski-Bjornsson syndrome ⚠
- p.Asn566Ser Multiple submitters ⚠
- p.Asp221Val Multiple submitters Pilarowski-Bjornsson syndrome ⚠
- p.Glu65Lys Multiple submitters ⚠
- p.Gly1113Arg Multiple submitters Pilarowski-Bjornsson syndrome ⚠
- p.Ile819Val Multiple submitters ⚠
- p.Pro91Ser Multiple submitters Pilarowski-Bjornsson syndrome ⚠
- p.Ser1617Leu Multiple submitters ⚠
- p.Ser60Gly Multiple submitters ⚠
- p.Thr1394Ala Multiple submitters ⚠
- p.Tyr1598His Multiple submitters Pilarowski-Bjornsson syndrome ⚠
- p.Val263Ala Multiple submitters Pilarowski-Bjornsson syndrome
- c.1085+2T>G Single submitter
- c.1710+3_1710+4delinsC Single submitter
- c.1801-7T>C Single submitter
- c.2805_2867+17del Single submitter
- c.2867+3G>T Single submitter
- c.2868-4_2869del Single submitter
- c.3060+5A>T Single submitter
- c.3237+1G>A Single submitter Pilarowski-Bjornsson syndrome
- c.3571+1G>A Single submitter
- c.3571+5C>T Single submitter Pilarowski-Bjornsson syndrome
- c.3572-4C>A Single submitter
- c.3711-9T>C Single submitter Pilarowski-Bjornsson syndrome
- c.3978+3_3978+6del Single submitter
- c.4107+2T>G Single submitter
- c.4108-554dup Single submitter Pilarowski-Bjornsson syndrome
- c.4248+1G>T Single submitter Pilarowski-Bjornsson syndrome
- c.4250_4251dup Single submitter
- c.4427+17T>G Single submitter Pilarowski-Bjornsson syndrome
- c.4576+5G>A Single submitter
- c.4577-7C>A Single submitter CHD1-related disorder
- c.54-7A>G Single submitter
- c.587+1G>T Single submitter
- c.587+5_587+6del Single submitter
- c.860-5T>C Single submitter
- c.-11AAT[1] Single submitter
- c.*8T>C Single submitter
- p.Ala1246Val Single submitter neurodevelopmental disorder ⚠
- p.Ala1247Thr Single submitter ⚠
- p.Ala1299Thr Single submitter ⚠
- p.Ala1306Gly Single submitter
- p.Ala287Val Single submitter ⚠
- p.Ala427Pro Single submitter
- p.Ala435Ser Single submitter ⚠
- p.Ala609Pro Single submitter ⚠
- p.Ala779Val Single submitter Pilarowski-Bjornsson syndrome ⚠
- p.Arg1038Gly Single submitter ⚠
- p.Arg1038Ile Single submitter Pilarowski-Bjornsson syndrome ⚠
- p.Arg1089Pro Single submitter ⚠
- p.Arg1091Gly Single submitter Pilarowski-Bjornsson syndrome
- p.Arg1112Leu Single submitter Pilarowski-Bjornsson syndrome ⚠
- p.Arg1116Trp Single submitter ⚠
- p.Arg1166Lys Single submitter ⚠
- p.Arg1167Ter Single submitter
- p.Arg1203Gln Single submitter Pilarowski-Bjornsson syndrome ⚠
- p.Arg1305Cys Single submitter ⚠
- p.Arg1331Ser Single submitter
- p.Arg141Gly Single submitter Pilarowski-Bjornsson syndrome ⚠
- p.Arg1433Lys Single submitter
- p.Arg1448Thr Single submitter ⚠
- p.Arg1632His Single submitter ⚠
- p.Arg1638Gln Single submitter ⚠
- p.Arg1638Trp Single submitter ⚠
- p.Arg1644Gln Single submitter ⚠
- p.Arg1644Gly Single submitter ⚠
- p.Arg1682fs Single submitter
- p.Arg196Thr Single submitter
- p.Arg361Ile Single submitter Pilarowski-Bjornsson syndrome ⚠
- p.Arg361Thr Single submitter ⚠
- p.Arg393Cys Single submitter Pilarowski-Bjornsson syndrome ⚠
- p.Arg460Thr Single submitter ⚠
- p.Arg583Gln Single submitter ⚠
- p.Arg583Trp Single submitter ⚠
- p.Arg618Ter Single submitter
- p.Arg696His Single submitter ⚠
- p.Arg715Gly Single submitter ⚠
- p.Arg785Cys Single submitter Pilarowski-Bjornsson syndrome ⚠
- p.Arg827Cys Single submitter ⚠
- p.Arg827His Single submitter ⚠
- p.Arg833Ser Single submitter CHD1-related disorder ⚠
- p.Asn1004fs Single submitter
- p.Asn1042Ile Single submitter ⚠
- p.Asn1042Lys Single submitter ⚠
- p.Asn1122Ser Single submitter ⚠
- p.Asn1339His Single submitter ⚠
- p.Asn1339Lys Single submitter ⚠
- p.Asn1581Asp Single submitter
- p.Asn569Ser Single submitter ⚠
- p.Asn587fs Single submitter
- p.Asn961Ser Single submitter ⚠
- p.Asp1031Gly Single submitter ⚠
- p.Asp1050Tyr Single submitter ⚠
- p.Asp1164Ala Single submitter Pilarowski-Bjornsson syndrome ⚠
- p.Asp1182Tyr Single submitter
- p.Asp125Val Single submitter ⚠
- p.Asp131Gly Single submitter ⚠
- p.Asp131His Single submitter ⚠
- p.Asp133Gly Single submitter ⚠
- p.Asp134Gly Single submitter ⚠
- p.Asp1376His Single submitter ⚠
- p.Asp1388Gly Single submitter ⚠
- p.Asp1432His Single submitter ⚠
- p.Asp1489Asn Single submitter ⚠
- p.Asp1537Asn Single submitter ⚠
- p.Asp1547Glu Single submitter ⚠
- p.Asp1587Gly Single submitter Pilarowski-Bjornsson syndrome
- p.Asp1663Gly Single submitter ⚠
- p.Asp176Gly Single submitter Pilarowski-Bjornsson syndrome ⚠
- p.Asp219Val Single submitter Pilarowski-Bjornsson syndrome ⚠
- p.Asp228His Single submitter ⚠
- p.Asp228Tyr Single submitter Pilarowski-Bjornsson syndrome ⚠
- p.Asp245_Glu246delinsGluAsp Single submitter Pilarowski-Bjornsson syndrome
- p.Asp251Glu Single submitter ⚠
- p.Asp262Asn Single submitter ⚠
- p.Asp356Tyr Single submitter Pilarowski-Bjornsson syndrome ⚠
- p.Asp383Asn Single submitter ⚠
- p.Asp383Gly Single submitter ⚠
- p.Asp41Val Single submitter ⚠
- p.Asp564Glu Single submitter ⚠
- p.Asp632Val Single submitter ⚠
- p.Asp818His Single submitter ⚠
- p.Asp885Asn Single submitter ⚠
- p.Asp993Glu Single submitter Pilarowski-Bjornsson syndrome ⚠
- p.Cys1076Tyr Single submitter ⚠
- p.Cys175Tyr Single submitter ⚠
- p.Cys436Tyr Single submitter ⚠
- p.Cys502Phe Single submitter ⚠
- p.Gln108His Single submitter ⚠
- p.Gln111Ter Single submitter
- p.Gln115Arg Single submitter ⚠
- p.Gln1208Pro Single submitter
- p.Gln1301Arg Single submitter ⚠
- p.Gln1303Ter Single submitter
- p.Gln1430Arg Single submitter ⚠
- p.Gln1470Arg Single submitter ⚠
- p.Gln1473His Single submitter ⚠
- p.Gln1513His Single submitter ⚠
- p.Gln1552His Single submitter ⚠
- p.Gln1593Pro Single submitter ⚠
- p.Gln1681Arg Single submitter ⚠
- p.Gln389Lys Single submitter Pilarowski-Bjornsson syndrome ⚠
- p.Gln445Pro Single submitter ⚠
- p.Gln712Arg Single submitter ⚠
- p.Gln722fs Single submitter
- p.Gln812Glu Single submitter Pilarowski-Bjornsson syndrome ⚠
- p.Glu1014Lys Single submitter ⚠
- p.Glu1029Lys Single submitter
- p.Glu1044Asp Single submitter ⚠
- p.Glu1058Gln Single submitter ⚠
- p.Glu1066Lys Single submitter ⚠
- p.Glu1121Asp Single submitter
- p.Glu1130Ala Single submitter Pilarowski-Bjornsson syndrome ⚠
- p.Glu1146Gln Single submitter ⚠
- p.Glu1170Ter Single submitter
- p.Glu1321fs Single submitter
- p.Glu1350Val Single submitter ⚠
- p.Glu1361Lys Single submitter ⚠
- p.Glu1398Lys Single submitter
- p.Glu1408Asp Single submitter ⚠
- p.Glu1442Asp Single submitter ⚠
- p.Glu1442Ter Single submitter Pilarowski-Bjornsson syndrome
- p.Glu1532Gly Single submitter ⚠
- p.Glu1532Lys Single submitter
- p.Glu1602fs Single submitter Pilarowski-Bjornsson syndrome
- p.Glu165Gln Single submitter ⚠
- p.Glu168Gly Single submitter ⚠
- p.Glu169Gln Single submitter ⚠
- p.Glu1702Gly Single submitter ⚠
- p.Glu179Gly Single submitter ⚠
- p.Glu183Lys Single submitter ⚠
- p.Glu268Ala Single submitter ⚠
- p.Glu372Lys Single submitter ⚠
- p.Glu526Lys Single submitter
- p.Glu663Gly Single submitter Pilarowski-Bjornsson syndrome ⚠
- p.Glu669Lys Single submitter ⚠
- p.Glu754Gln Single submitter ⚠
- p.Glu963Ter Single submitter
- p.Glu981Gly Single submitter
- p.Gly1087Ala Single submitter ⚠
- p.Gly1087Arg Single submitter
- p.Gly1097Glu Single submitter ⚠
- p.Gly1097Val Single submitter
- p.Gly1186Ala Single submitter ⚠
- p.Gly1192Asp Single submitter
- p.Gly121Arg Single submitter ⚠
- p.Gly121Val Single submitter Pilarowski-Bjornsson syndrome ⚠
- p.Gly1327Ala Single submitter ⚠
- p.Gly153Glu Single submitter Pilarowski-Bjornsson syndrome ⚠
- p.Gly161Asp Single submitter ⚠
- p.Gly31Ala Single submitter ⚠
- p.Gly426fs Single submitter
- p.Gly474Ala Single submitter ⚠
- p.Gly475_His476insGly Single submitter
- p.Gly605Asp Single submitter ⚠
- p.Gly676Cys Single submitter ⚠
- p.Gly743Cys Single submitter ⚠
- p.Gly854Val Single submitter Pilarowski-Bjornsson syndrome ⚠
- p.Gly951Arg Single submitter ⚠
- p.His114Tyr Single submitter Pilarowski-Bjornsson syndrome ⚠
- p.His1243Arg Single submitter ⚠
- p.His1457Arg Single submitter ⚠
- p.His1499Leu Single submitter ⚠
- p.His1549Pro Single submitter Pilarowski-Bjornsson syndrome ⚠
- p.His1554Arg Single submitter ⚠
- p.His1585Tyr Single submitter Pilarowski-Bjornsson syndrome ⚠
- p.His1628Leu Single submitter Pilarowski-Bjornsson syndrome ⚠
- p.His1661Tyr Single submitter ⚠
- p.His476Tyr Single submitter CHD1-related disorder ⚠
- p.His525Arg Single submitter ⚠
- p.His578Pro Single submitter ⚠
- p.His578Tyr Single submitter ⚠
- p.Ile1118fs Single submitter
- p.Ile1151Val Single submitter ⚠
- p.Ile1228Val Single submitter ⚠
- p.Ile1263Thr Single submitter ⚠
- p.Ile1310Leu Single submitter ⚠
- p.Ile1310Phe Single submitter Pilarowski-Bjornsson syndrome ⚠
- p.Ile1393Val Single submitter ⚠
- p.Ile429Val Single submitter ⚠
- p.Ile473Val Single submitter ⚠
- p.Ile565Val Single submitter ⚠
- p.Ile809Phe Single submitter ⚠
- p.Ile871_Asn872insTer Single submitter
- p.Ile93Ser Single submitter ⚠
- p.Leu1168Val Single submitter ⚠
- p.Leu1444Val Single submitter ⚠
- p.Leu1462Gln Single submitter Pilarowski-Bjornsson syndrome ⚠
- p.Leu1517Phe Single submitter Pilarowski-Bjornsson syndrome ⚠
- p.Leu1530Ser Single submitter ⚠
- p.Leu1607Arg Single submitter ⚠
- p.Leu562Ile Single submitter ⚠
- p.Leu603fs Single submitter
- p.Leu603Val Single submitter Pilarowski-Bjornsson syndrome ⚠
- p.Leu626Val Single submitter Pilarowski-Bjornsson syndrome ⚠
- p.Leu657Pro Single submitter ⚠
- p.Leu834Phe Single submitter ⚠
- p.Leu834Ser Single submitter ⚠
- p.Leu869Pro Single submitter Pilarowski-Bjornsson syndrome ⚠
- p.Leu948Val Single submitter Pilarowski-Bjornsson syndrome ⚠
- p.Lys103Asn Single submitter ⚠
- p.Lys1110_Pro1115del Single submitter Pilarowski-Bjornsson syndrome
- p.Lys1181Glu Single submitter ⚠
- p.Lys1338del Single submitter
- p.Lys1346Asn Single submitter ⚠
- p.Lys1352fs Single submitter
- p.Lys143Asn Single submitter ⚠
- p.Lys1463fs Single submitter
- p.Lys1653Arg Single submitter ⚠
- p.Lys1653Glu Single submitter
- p.Lys1698Arg Single submitter ⚠
- p.Lys1709Thr Single submitter ⚠
- p.Lys187Arg Single submitter ⚠
- p.Lys198Glu Single submitter ⚠
- p.Lys203Gln Single submitter Pilarowski-Bjornsson syndrome ⚠
- p.Lys204del Single submitter Pilarowski-Bjornsson syndrome
- p.Lys243Asn Single submitter ⚠
- p.Lys243Glu Single submitter ⚠
- p.Lys249Arg Single submitter ⚠
- p.Lys355Ter Single submitter
- p.Lys431= Single submitter
- p.Lys431Arg Single submitter ⚠
- p.Lys447Asn Single submitter ⚠
- p.Lys585Ter Single submitter
- p.Lys600= Single submitter Hypotonia
- p.Lys628Thr Single submitter ⚠
- p.Lys80Asn Single submitter ⚠
- p.Lys80Glu Single submitter ⚠
- p.Lys88Ile Single submitter ⚠
- p.Lys927Ile Single submitter ⚠
- p.Lys997Arg Single submitter ⚠
- p.Met1275Leu Single submitter ⚠
- p.Met1278Ile Single submitter ⚠
- p.Met278Ile Single submitter ⚠
- p.Met570Ile Single submitter ⚠
- p.Phe271Tyr Single submitter ⚠
- p.Phe277Cys Single submitter ⚠
- p.Phe441Tyr Single submitter ⚠
- p.Phe633Leu Single submitter ⚠
- p.Phe671Leu Single submitter ⚠
- p.Phe86Val Single submitter ⚠
- p.Pro1119Ala Single submitter ⚠
- p.Pro1119Ser Single submitter
- p.Pro1223Thr Single submitter
- p.Pro1232Thr Single submitter Pilarowski-Bjornsson syndrome ⚠
- p.Pro1357Arg Single submitter ⚠
- p.Pro1423Ser Single submitter ⚠
- p.Pro1434fs Single submitter
- p.Pro1468Thr Single submitter ⚠
- p.Pro1525Leu Single submitter ⚠
- p.Pro1675Ser Single submitter ⚠
- p.Pro1684Leu Single submitter ⚠