CHD1L — 267 ClinVar variants
All ClinVar germline CHD1L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 140 flagged for review →
2 Conflicting · 81 Benign · 3 Benign/Likely benign · 33 Likely benign · 148 Uncertain significance
Full CHD1L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 140
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 108
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CHD1L p.Arg236His
Uncertain significance
Multiple submitters
congenital anomaly of kidney and urinary tract
- CHD1L p.Gln12Arg Uncertain significance Multiple submitters
- CHD1L p.Pro727Thr Uncertain significance Multiple submitters
- CHD1L p.Thr629Asn Uncertain significance Multiple submitters
- CHD1L p.Val896Met Uncertain significance Multiple submitters
- CHD1L p.Ala13Ser Uncertain significance Single submitter
- CHD1L p.Ala28Glu Uncertain significance Single submitter
- CHD1L p.Ala29Val Uncertain significance Single submitter
- CHD1L p.Ala357Val Uncertain significance Single submitter
- CHD1L p.Ala507Thr Uncertain significance Single submitter
- CHD1L p.Ala557Val Uncertain significance Single submitter
- CHD1L p.Ala58Thr Uncertain significance Single submitter
- CHD1L p.Ala675Val Uncertain significance Single submitter
- CHD1L p.Ala6Gly Uncertain significance Single submitter
-
CHD1L p.Ala760Thr
Uncertain significance
Single submitter
congenital anomaly of kidney and urinary tract
- CHD1L p.Ala799Ser Uncertain significance Single submitter
- CHD1L p.Ala818Thr Uncertain significance Single submitter
- CHD1L p.Ala818Val Uncertain significance Single submitter
- CHD1L p.Arg145Cys Uncertain significance Single submitter
- CHD1L p.Arg365Trp Uncertain significance Single submitter
- CHD1L p.Arg386Gly Uncertain significance Single submitter
- CHD1L p.Arg3Cys Uncertain significance Single submitter
- CHD1L p.Arg457Cys Uncertain significance Single submitter
- CHD1L p.Arg468Gly Uncertain significance Single submitter
- CHD1L p.Arg472Gln Uncertain significance Single submitter
- CHD1L p.Arg842Cys Uncertain significance Single submitter
- CHD1L p.Arg860Gln Uncertain significance Single submitter
- CHD1L p.Asn208Lys Uncertain significance Single submitter
- CHD1L p.Asn615Tyr Uncertain significance Single submitter
- CHD1L p.Asn680Lys Uncertain significance Single submitter
- CHD1L p.Asn792Lys Uncertain significance Single submitter
- CHD1L p.Asp547Gly Uncertain significance Single submitter
- CHD1L p.Gln12Lys Uncertain significance Single submitter
- CHD1L p.Gln34Lys Uncertain significance Single submitter
- CHD1L p.Gln38Lys Uncertain significance Single submitter
- CHD1L p.Gln412His Uncertain significance Single submitter
- CHD1L p.Gln446Arg Uncertain significance Single submitter
- CHD1L p.Gln504Arg Uncertain significance Single submitter
-
CHD1L p.Gln594His
Uncertain significance
Single submitter
CHD1L-related disorder
- CHD1L p.Gln644His Uncertain significance Single submitter
- CHD1L p.Gln886Leu Uncertain significance Single submitter
- CHD1L p.Gln886Lys Uncertain significance Single submitter
- CHD1L p.Glu229Gly Uncertain significance Single submitter
- CHD1L p.Glu391Lys Uncertain significance Single submitter
- CHD1L p.Glu609Lys Uncertain significance Single submitter
- CHD1L p.Glu659Asp Uncertain significance Single submitter
- CHD1L p.Glu691Asp Uncertain significance Single submitter
- CHD1L p.Glu693Lys Uncertain significance Single submitter
- CHD1L p.Glu706Gly Uncertain significance Single submitter
- CHD1L p.Glu732Lys Uncertain significance Single submitter
- CHD1L p.Glu756Gln Uncertain significance Single submitter
- CHD1L p.Gly10Arg Uncertain significance Single submitter
- CHD1L p.Gly11Cys Uncertain significance Single submitter
- CHD1L p.Gly203Ala Uncertain significance Single submitter
- CHD1L p.Gly496Glu Uncertain significance Single submitter
- CHD1L p.Gly568Val Uncertain significance Single submitter
- CHD1L p.Gly747Val Uncertain significance Single submitter
- CHD1L p.Gly76Trp Uncertain significance Single submitter
- CHD1L p.His726Asn Uncertain significance Single submitter
- CHD1L p.His738Asn Uncertain significance Single submitter
- CHD1L p.Ile240Thr Uncertain significance Single submitter
- CHD1L p.Ile278Met Uncertain significance Single submitter
-
CHD1L p.Ile736Val
Uncertain significance
Single submitter
congenital anomaly of kidney and urinary tract
- CHD1L p.Ile843Ser Uncertain significance Single submitter
- CHD1L p.Leu216Phe Uncertain significance Single submitter
- CHD1L p.Leu254Phe Uncertain significance Single submitter
- CHD1L p.Leu311Val Uncertain significance Single submitter
-
CHD1L p.Leu419Pro
Uncertain significance
Single submitter
hereditary breast ovarian cancer syndrome
- CHD1L p.Leu522Phe Uncertain significance Single submitter
- CHD1L p.Leu840Phe Uncertain significance Single submitter
- CHD1L p.Leu883Phe Uncertain significance Single submitter
- CHD1L p.Lys111Glu Uncertain significance Single submitter
- CHD1L p.Lys486Asn Uncertain significance Single submitter
- CHD1L p.Lys569Arg Uncertain significance Single submitter
- CHD1L p.Lys582Glu Uncertain significance Single submitter
- CHD1L p.Lys630Glu Uncertain significance Single submitter
- CHD1L p.Lys662Arg Uncertain significance Single submitter
- CHD1L p.Lys826Arg Uncertain significance Single submitter
- CHD1L p.Lys833Glu Uncertain significance Single submitter
- CHD1L p.Met533Val Uncertain significance Single submitter
- CHD1L p.Phe16Tyr Uncertain significance Single submitter
- CHD1L p.Phe328Cys Uncertain significance Single submitter
- CHD1L p.Phe409Val Uncertain significance Single submitter
- CHD1L p.Phe575Leu Uncertain significance Single submitter
- CHD1L p.Pro103Ser Uncertain significance Single submitter
- CHD1L p.Pro271Leu Uncertain significance Single submitter
- CHD1L p.Pro333Thr Uncertain significance Single submitter
- CHD1L p.Pro762Ala Uncertain significance Single submitter
- CHD1L p.Pro869Gln Uncertain significance Single submitter
- CHD1L p.Pro897Ser Uncertain significance Single submitter
- CHD1L p.Ser485Thr Uncertain significance Single submitter
- CHD1L p.Ser692Gly Uncertain significance Single submitter
- CHD1L p.Thr202Ile Uncertain significance Single submitter
- CHD1L p.Thr490Ile Uncertain significance Single submitter
- CHD1L p.Thr532Ile Uncertain significance Single submitter
- CHD1L p.Thr629Ala Uncertain significance Single submitter
- CHD1L p.Thr7Ile Uncertain significance Single submitter
- CHD1L p.Trp677Cys Uncertain significance Single submitter
- CHD1L p.Tyr153Cys Uncertain significance Single submitter
- CHD1L p.Tyr214Cys Uncertain significance Single submitter
- CHD1L p.Tyr290Cys Uncertain significance Single submitter
- CHD1L p.Tyr382Cys Uncertain significance Single submitter
- CHD1L p.Tyr766Asn Uncertain significance Single submitter
- CHD1L p.Val196Ala Uncertain significance Single submitter
- CHD1L p.Val366Ala Uncertain significance Single submitter
- CHD1L p.Val366Phe Uncertain significance Single submitter
- CHD1L p.Val740Ile Uncertain significance Single submitter
-
CHD1L p.Ser420Asn
Uncertain significance
No assertion criteria
CHD1L-related disorder
Predictors split 30
The independent predictors disagree with each other — read with care.
- CHD1L p.Ile517Met Benign Multiple submitters
- CHD1L p.Ser743Cys Benign/Likely benign Multiple submitters
- CHD1L p.Arg468Gln Uncertain significance Single submitter
- CHD1L p.Arg47Cys Uncertain significance Single submitter
- CHD1L p.Arg611Gln Uncertain significance Single submitter
- CHD1L p.Arg763Thr Uncertain significance Single submitter
- CHD1L p.Arg806His Uncertain significance Single submitter
- CHD1L p.Arg860Gly Uncertain significance Single submitter
- CHD1L p.Asp588Gly Uncertain significance Single submitter
- CHD1L p.Asp796Tyr Uncertain significance Single submitter
- CHD1L p.Cys79Phe Uncertain significance Single submitter
- CHD1L p.Gln138Pro Uncertain significance Single submitter
- CHD1L p.Glu576Gly Uncertain significance Single submitter
- CHD1L p.Glu821Lys Uncertain significance Single submitter
- CHD1L p.Gly128Ser Uncertain significance Single submitter
- CHD1L p.Ile155Phe Uncertain significance Single submitter
- CHD1L p.Lys632Asn Uncertain significance Single submitter
- CHD1L p.Phe166Leu Uncertain significance Single submitter
- CHD1L p.Pro222Leu Uncertain significance Single submitter
- CHD1L p.Pro727Arg Uncertain significance Single submitter
- CHD1L p.Ser361Pro Uncertain significance Single submitter
- CHD1L p.Ser515Ile Uncertain significance Single submitter
- CHD1L p.Thr725Ile Uncertain significance Single submitter
- CHD1L p.Trp39Cys Uncertain significance Single submitter
- CHD1L p.Tyr153Phe Uncertain significance Single submitter
- CHD1L p.Tyr279His Uncertain significance Single submitter
- CHD1L p.Tyr853Cys Uncertain significance Single submitter
- CHD1L p.Val262Met Uncertain significance Single submitter
- CHD1L p.Val277Met Uncertain significance Single submitter
- CHD1L p.Val740Leu Uncertain significance Single submitter
All CHD1L variants
Conflicting classifications of pathogenicity 2
- p.Arg60Cys Single submitter ⚠
- p.Gly203Arg Single submitter ⚠
Benign 81
- c.1085+39= Multiple submitters
- c.127+108= Multiple submitters
- c.128-185= Multiple submitters
- c.128-275A>G Multiple submitters
- c.128-337C>T Multiple submitters
- c.1385+101= Multiple submitters
- c.1385+22= Multiple submitters
- c.1539+146= Multiple submitters
- c.2019-52G>A Multiple submitters
- c.2222-8T>C Multiple submitters
- c.2320+116= Multiple submitters
- c.2321-179G>A Multiple submitters
- c.2321-180A>C Multiple submitters
- c.2321-299= Multiple submitters
- c.2321-75= Multiple submitters
- c.2391+181= Multiple submitters
- c.2391+204= Multiple submitters
- c.240+18G>A Multiple submitters
- c.2506+48C>G Multiple submitters
- c.2616-50A>G Multiple submitters
- c.348-80G>T Multiple submitters
- c.462+11G>A Multiple submitters
- c.463-37A>G Multiple submitters
- c.740-101G>C Multiple submitters
- c.896-17T>C Multiple submitters
- c.988+100= Multiple submitters
- c.-89-10018= Multiple submitters
- c.-89-9992= Multiple submitters
- c.*130= Multiple submitters
- c.*163G>A Multiple submitters
- p.Ala13= Multiple submitters
- p.Glu649Ala Multiple submitters
- p.His350Gln Multiple submitters
- p.Ile517Met Multiple submitters ⚠
- p.Leu224= Multiple submitters
- p.Lys662= Multiple submitters
- p.Ser759= Multiple submitters
- p.Ser776Arg Multiple submitters
- p.Val196= Multiple submitters
- c.1086-242= Single submitter
- c.1159+252G>A Single submitter
- c.1160-221= Single submitter
- c.1271-125G>A Single submitter
- c.1385+288G>T Single submitter
- c.1386-307_1386-305dup Single submitter
- c.1386-307_1386-306dup Single submitter
- c.1386-307dup Single submitter
- c.1386-307G>A Single submitter
- c.1539+85_1539+87del Single submitter
- c.1540-289C>A Single submitter
- c.1706-240A>G Single submitter
- c.1854+224= Single submitter
- c.1854+53del Single submitter
- c.2019-256= Single submitter
- c.2221+198A>T Single submitter
- c.2391+297= Single submitter
- c.2392-167= Single submitter
- c.241-349T>C Single submitter
- c.2506+211C>T Single submitter
- c.2507-23_2507-22dup Single submitter
- c.347+215G>A Single submitter
- c.348-255T>C Single submitter
- c.348-290G>A Single submitter
- c.348-340C>T Single submitter
- c.462+181G>A Single submitter
- c.463-22dup Single submitter
- c.495-4dup Single submitter
- c.576+241C>T Single submitter
- c.576+250= Single submitter
- c.577-270T>C Single submitter
- c.739+305G>T Single submitter
- c.740-234G>T Single submitter
- c.740-248A>C Single submitter
- c.-89-10060C>T Single submitter
- c.-89-10182G>T Single submitter
- p.Ile541= Single submitter
- p.Ser885= Single submitter
- p.Ser885Ala Single submitter
- p.Thr202= Single submitter
- p.Ser283= No assertion criteria CHD1L-related disorder
- p.Ser441= No assertion criteria CHD1L-related disorder
Benign/Likely benign 3
- p.Arg25Pro Multiple submitters
- p.Gly700Arg Multiple submitters
- p.Ser743Cys Multiple submitters ⚠
Likely benign 33
- p.Arg654= Multiple submitters
- p.Gln804Ter Multiple submitters
- p.Gly330= Multiple submitters
- p.Ile765Met Multiple submitters
- p.Ile827Val Multiple submitters
- c.2320+16G>A Single submitter
- c.2506+10T>G Single submitter
- c.463-18G>A Single submitter
- c.740-10del Single submitter
- c.896-10T>A Single submitter
- c.896-10T>G Single submitter
- c.896-17T>G Single submitter
- p.Ala557Thr Single submitter
- p.Ala846= Single submitter
- p.Gln12= Single submitter
- p.Gly425= Single submitter
- p.Leu18= Single submitter
- p.Leu514= Single submitter
- p.Leu775= Single submitter
- p.Met1Leu Single submitter
- p.Met533Thr Single submitter
- p.Thr305Met Single submitter
- p.Thr7Ala Single submitter
- c.1386-2A>G No assertion criteria CHD1L-related disorder
- c.1706-6del No assertion criteria CHD1L-related disorder
- c.896-10del No assertion criteria CHD1L-related disorder
- p.Ala652Thr No assertion criteria neutropenia
- p.Arg37= No assertion criteria CHD1L-related disorder
- p.Arg663Lys No assertion criteria CHD1L-related disorder
- p.Gln549= No assertion criteria CHD1L-related disorder
- p.Leu57= No assertion criteria CHD1L-related disorder
- p.Ser8Ile No assertion criteria CHD1L-related disorder
- p.Thr725= No assertion criteria CHD1L-related disorder
Uncertain significance 148
- p.Arg236His Multiple submitters congenital anomaly of kidney and urinary tract ⚠
- p.Gln12Arg Multiple submitters ⚠
- p.Gln594Pro Multiple submitters CHD1L-related disorder
- p.Pro727Thr Multiple submitters ⚠
- p.Thr629Asn Multiple submitters ⚠
- p.Val896Met Multiple submitters ⚠
- c.1086-2A>C Single submitter
- p.Ala13Ser Single submitter ⚠
- p.Ala264Pro Single submitter
- p.Ala28Glu Single submitter ⚠
- p.Ala29Val Single submitter ⚠
- p.Ala357Val Single submitter ⚠
- p.Ala507Thr Single submitter ⚠
- p.Ala557Val Single submitter ⚠
- p.Ala58Thr Single submitter ⚠
- p.Ala675Val Single submitter ⚠
- p.Ala6Gly Single submitter ⚠
- p.Ala760Thr Single submitter congenital anomaly of kidney and urinary tract ⚠
- p.Ala799Ser Single submitter ⚠
- p.Ala818Thr Single submitter ⚠
- p.Ala818Val Single submitter ⚠
- p.Arg145Cys Single submitter ⚠
- p.Arg365Trp Single submitter ⚠
- p.Arg386Gly Single submitter ⚠
- p.Arg3Cys Single submitter ⚠
- p.Arg457Cys Single submitter ⚠
- p.Arg468Gln Single submitter ⚠
- p.Arg468Gly Single submitter ⚠
- p.Arg472Gln Single submitter ⚠
- p.Arg47Cys Single submitter ⚠
- p.Arg611Gln Single submitter ⚠
- p.Arg614Ter Single submitter
- p.Arg643fs Single submitter
- p.Arg763Thr Single submitter ⚠
- p.Arg806His Single submitter ⚠
- p.Arg842Cys Single submitter ⚠
- p.Arg860Gln Single submitter ⚠
- p.Arg860Gly Single submitter ⚠
- p.Asn208Lys Single submitter ⚠
- p.Asn615Tyr Single submitter ⚠
- p.Asn680Lys Single submitter ⚠
- p.Asn792Lys Single submitter ⚠
- p.Asp547Gly Single submitter ⚠
- p.Asp588Gly Single submitter ⚠
- p.Asp796Tyr Single submitter ⚠
- p.Cys79Phe Single submitter ⚠
- p.Gln12Lys Single submitter ⚠
- p.Gln138Pro Single submitter ⚠
- p.Gln34Lys Single submitter ⚠
- p.Gln38Lys Single submitter ⚠
- p.Gln412His Single submitter ⚠
- p.Gln446Arg Single submitter ⚠
- p.Gln504Arg Single submitter ⚠
- p.Gln594His Single submitter CHD1L-related disorder ⚠
- p.Gln644His Single submitter ⚠
- p.Gln886Leu Single submitter ⚠
- p.Gln886Lys Single submitter ⚠
- p.Glu229Gly Single submitter ⚠
- p.Glu391Lys Single submitter ⚠
- p.Glu576Gly Single submitter ⚠
- p.Glu609Lys Single submitter ⚠
- p.Glu659Asp Single submitter ⚠
- p.Glu691Asp Single submitter ⚠
- p.Glu693Lys Single submitter ⚠
- p.Glu706Gly Single submitter ⚠
- p.Glu732Lys Single submitter ⚠
- p.Glu756Gln Single submitter ⚠
- p.Glu789fs Single submitter
- p.Glu821Lys Single submitter ⚠
- p.Gly10Arg Single submitter ⚠
- p.Gly11Cys Single submitter ⚠
- p.Gly128Ser Single submitter ⚠
- p.Gly203Ala Single submitter ⚠
- p.Gly40Ala Single submitter
- p.Gly496Glu Single submitter ⚠
- p.Gly568Val Single submitter ⚠
- p.Gly747Ala Single submitter
- p.Gly747Val Single submitter ⚠
- p.Gly76Trp Single submitter ⚠
- p.His726Asn Single submitter ⚠
- p.His738Asn Single submitter ⚠
- p.Ile155Phe Single submitter ⚠
- p.Ile240Thr Single submitter ⚠
- p.Ile278Met Single submitter ⚠
- p.Ile736Val Single submitter congenital anomaly of kidney and urinary tract ⚠
- p.Ile843Ser Single submitter ⚠
- p.Leu216Phe Single submitter ⚠
- p.Leu254Phe Single submitter ⚠
- p.Leu311Val Single submitter ⚠
- p.Leu419Pro Single submitter hereditary breast ovarian cancer syndrome ⚠
- p.Leu522Phe Single submitter ⚠
- p.Leu840Phe Single submitter ⚠
- p.Leu883Phe Single submitter ⚠
- p.Lys111Glu Single submitter ⚠
- p.Lys486Asn Single submitter ⚠
- p.Lys569Arg Single submitter ⚠
- p.Lys582Asn Single submitter
- p.Lys582Glu Single submitter ⚠
- p.Lys630Glu Single submitter ⚠
- p.Lys632Asn Single submitter ⚠
- p.Lys662Arg Single submitter ⚠
- p.Lys826Arg Single submitter ⚠
- p.Lys833Glu Single submitter ⚠
- p.Met533Val Single submitter ⚠
- p.Phe166Leu Single submitter ⚠
- p.Phe16Tyr Single submitter ⚠
- p.Phe328Cys Single submitter ⚠
- p.Phe409Val Single submitter ⚠
- p.Phe575Leu Single submitter ⚠
- p.Pro103Ser Single submitter ⚠
- p.Pro222Leu Single submitter ⚠
- p.Pro271Leu Single submitter ⚠
- p.Pro333Thr Single submitter ⚠
- p.Pro727Arg Single submitter ⚠
- p.Pro762Ala Single submitter ⚠
- p.Pro869Gln Single submitter ⚠
- p.Pro897Ser Single submitter ⚠
- p.Ser226fs Single submitter
- p.Ser361Pro Single submitter ⚠
- p.Ser485Thr Single submitter ⚠
- p.Ser515Ile Single submitter ⚠
- p.Ser692Gly Single submitter ⚠
- p.Thr202Ile Single submitter ⚠
- p.Thr490Ile Single submitter ⚠
- p.Thr532Ile Single submitter ⚠
- p.Thr629Ala Single submitter ⚠
- p.Thr725Ile Single submitter ⚠
- p.Thr7Ile Single submitter ⚠
- p.Trp39Cys Single submitter ⚠
- p.Trp677Cys Single submitter ⚠
- p.Tyr153Cys Single submitter ⚠
- p.Tyr153Phe Single submitter ⚠
- p.Tyr153Ter Single submitter
- p.Tyr214Cys Single submitter ⚠
- p.Tyr279His Single submitter ⚠
- p.Tyr290Cys Single submitter ⚠
- p.Tyr382Cys Single submitter ⚠
- p.Tyr766Asn Single submitter ⚠
- p.Tyr853Cys Single submitter ⚠
- p.Val196Ala Single submitter ⚠
- p.Val262Met Single submitter ⚠
- p.Val277Met Single submitter ⚠
- p.Val366Ala Single submitter ⚠
- p.Val366Phe Single submitter ⚠
- p.Val740Ile Single submitter ⚠
- p.Val740Leu Single submitter ⚠
- p.Ser420Asn No assertion criteria CHD1L-related disorder ⚠
- p.Thr78= No assertion criteria Abnormality of the urinary system