NCAPD3 — 357 ClinVar variants
All ClinVar germline NCAPD3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 237 flagged for review →
5 Pathogenic · 4 Likely pathogenic · 5 Conflicting · 17 Benign · 6 Benign/Likely benign · 72 Likely benign · 248 Uncertain significance
Full NCAPD3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 237
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
NCAPD3 p.Asn753Asp
Conflicting
Single submitter
microcephaly 22, primary, autosomal recessive
-
NCAPD3 p.Cys760Gly
Conflicting
Single submitter
intellectual disability
-
NCAPD3 p.Lys939Arg
Conflicting
Single submitter
microcephaly 22, primary, autosomal recessive
- NCAPD3 p.Pro1377Ser Conflicting Single submitter
Predictors lean, ClinVar uncertain 208
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 208
-
NCAPD3 p.Ala334Thr
Uncertain significance
Multiple submitters
microcephaly 22, primary, autosomal recessive
- NCAPD3 p.Arg519Cys Uncertain significance Multiple submitters
- NCAPD3 p.Gly1451Arg Uncertain significance Multiple submitters
-
NCAPD3 p.Lys221Asn
Uncertain significance
Multiple submitters
NCAPD3-related disorder
- NCAPD3 p.Ala1125Gly Uncertain significance Single submitter
- NCAPD3 p.Ala1158Ser Uncertain significance Single submitter
- NCAPD3 p.Ala1175Val Uncertain significance Single submitter
- NCAPD3 p.Ala1279Ser Uncertain significance Single submitter
- NCAPD3 p.Ala1285Glu Uncertain significance Single submitter
- NCAPD3 p.Ala1344Val Uncertain significance Single submitter
- NCAPD3 p.Ala1476Thr Uncertain significance Single submitter
- NCAPD3 p.Ala1483Ser Uncertain significance Single submitter
- NCAPD3 p.Ala1497Asp Uncertain significance Single submitter
- NCAPD3 p.Ala340Thr Uncertain significance Single submitter
- NCAPD3 p.Ala391Thr Uncertain significance Single submitter
- NCAPD3 p.Ala457Val Uncertain significance Single submitter
- NCAPD3 p.Ala667Val Uncertain significance Single submitter
- NCAPD3 p.Ala669Val Uncertain significance Single submitter
-
NCAPD3 p.Ala688Ser
Uncertain significance
Single submitter
microcephaly 22, primary, autosomal recessive
- NCAPD3 p.Ala726Thr Uncertain significance Single submitter
- NCAPD3 p.Ala884Val Uncertain significance Single submitter
-
NCAPD3 p.Ala903Thr
Uncertain significance
Single submitter
microcephaly 22, primary, autosomal recessive
- NCAPD3 p.Arg1083Trp Uncertain significance Single submitter
- NCAPD3 p.Arg1095Ile Uncertain significance Single submitter
- NCAPD3 p.Arg1195Gly Uncertain significance Single submitter
- NCAPD3 p.Arg1221Gln Uncertain significance Single submitter
- NCAPD3 p.Arg1221Trp Uncertain significance Single submitter
- NCAPD3 p.Arg1369Gln Uncertain significance Single submitter
- NCAPD3 p.Arg1436Trp Uncertain significance Single submitter
- NCAPD3 p.Arg1473Leu Uncertain significance Single submitter
- NCAPD3 p.Arg1473Trp Uncertain significance Single submitter
- NCAPD3 p.Arg1477Thr Uncertain significance Single submitter
- NCAPD3 p.Arg184Ser Uncertain significance Single submitter
- NCAPD3 p.Arg207Trp Uncertain significance Single submitter
- NCAPD3 p.Arg318Cys Uncertain significance Single submitter
- NCAPD3 p.Arg318Gly Uncertain significance Single submitter
- NCAPD3 p.Arg354Cys Uncertain significance Single submitter
- NCAPD3 p.Arg402Gln Uncertain significance Single submitter
- NCAPD3 p.Arg558Trp Uncertain significance Single submitter
- NCAPD3 p.Arg652Gly Uncertain significance Single submitter
- NCAPD3 p.Arg683Gln Uncertain significance Single submitter
- NCAPD3 p.Arg774Gln Uncertain significance Single submitter
- NCAPD3 p.Arg874His Uncertain significance Single submitter
- NCAPD3 p.Arg995Gln Uncertain significance Single submitter
- NCAPD3 p.Asn1073Ser Uncertain significance Single submitter
- NCAPD3 p.Asn1114Asp Uncertain significance Single submitter
- NCAPD3 p.Asn1114Ser Uncertain significance Single submitter
- NCAPD3 p.Asn1452Ser Uncertain significance Single submitter
- NCAPD3 p.Asn172Ile Uncertain significance Single submitter
- NCAPD3 p.Asn837Asp Uncertain significance Single submitter
- NCAPD3 p.Asn83Thr Uncertain significance Single submitter
- NCAPD3 p.Asn982Ser Uncertain significance Single submitter
- NCAPD3 p.Asp1166Asn Uncertain significance Single submitter
- NCAPD3 p.Asp1233Glu Uncertain significance Single submitter
- NCAPD3 p.Asp141Asn Uncertain significance Single submitter
- NCAPD3 p.Asp187Gly Uncertain significance Single submitter
- NCAPD3 p.Asp191Gly Uncertain significance Single submitter
- NCAPD3 p.Asp191Tyr Uncertain significance Single submitter
- NCAPD3 p.Asp414Gly Uncertain significance Single submitter
- NCAPD3 p.Asp428Asn Uncertain significance Single submitter
- NCAPD3 p.Asp662His Uncertain significance Single submitter
- NCAPD3 p.Asp775Glu Uncertain significance Single submitter
- NCAPD3 p.Asp775His Uncertain significance Single submitter
- NCAPD3 p.Asp851Glu Uncertain significance Single submitter
- NCAPD3 p.Cys613Tyr Uncertain significance Single submitter
- NCAPD3 p.Cys631Gly Uncertain significance Single submitter
- NCAPD3 p.Cys986Phe Uncertain significance Single submitter
- NCAPD3 p.Gln1191Lys Uncertain significance Single submitter
- NCAPD3 p.Gln1193Glu Uncertain significance Single submitter
- NCAPD3 p.Gln1260His Uncertain significance Single submitter
- NCAPD3 p.Gln1399Glu Uncertain significance Single submitter
- NCAPD3 p.Gln197His Uncertain significance Single submitter
- NCAPD3 p.Gln636Glu Uncertain significance Single submitter
- NCAPD3 p.Gln909Lys Uncertain significance Single submitter
- NCAPD3 p.Glu1081Asp Uncertain significance Single submitter
- NCAPD3 p.Glu1171Asp Uncertain significance Single submitter
- NCAPD3 p.Glu1171Lys Uncertain significance Single submitter
- NCAPD3 p.Glu1222Lys Uncertain significance Single submitter
- NCAPD3 p.Glu1253Gln Uncertain significance Single submitter
- NCAPD3 p.Glu1404Lys Uncertain significance Single submitter
- NCAPD3 p.Glu1417Ala Uncertain significance Single submitter
- NCAPD3 p.Glu154Asp Uncertain significance Single submitter
- NCAPD3 p.Glu198Lys Uncertain significance Single submitter
- NCAPD3 p.Glu200Lys Uncertain significance Single submitter
- NCAPD3 p.Glu22Gly Uncertain significance Single submitter
- NCAPD3 p.Glu244Lys Uncertain significance Single submitter
- NCAPD3 p.Glu497Gln Uncertain significance Single submitter
- NCAPD3 p.Glu521Lys Uncertain significance Single submitter
- NCAPD3 p.Glu632Lys Uncertain significance Single submitter
- NCAPD3 p.Glu816Asp Uncertain significance Single submitter
- NCAPD3 p.Glu81Gly Uncertain significance Single submitter
- NCAPD3 p.Gly1302Cys Uncertain significance Single submitter
- NCAPD3 p.Gly1383Arg Uncertain significance Single submitter
- NCAPD3 p.Gly1428Ala Uncertain significance Single submitter
- NCAPD3 p.Gly180Arg Uncertain significance Single submitter
- NCAPD3 p.Gly292Glu Uncertain significance Single submitter
- NCAPD3 p.Gly388Glu Uncertain significance Single submitter
- NCAPD3 p.Gly623Arg Uncertain significance Single submitter
- NCAPD3 p.Gly6Ala Uncertain significance Single submitter
- NCAPD3 p.Gly6Val Uncertain significance Single submitter
- NCAPD3 p.Gly70Glu Uncertain significance Single submitter
- NCAPD3 p.Gly756Glu Uncertain significance Single submitter
- NCAPD3 p.Gly846Val Uncertain significance Single submitter
- NCAPD3 p.Gly8Asp Uncertain significance Single submitter
- NCAPD3 p.His1324Tyr Uncertain significance Single submitter
- NCAPD3 p.His218Asp Uncertain significance Single submitter
- NCAPD3 p.His833Leu Uncertain significance Single submitter
- NCAPD3 p.His833Tyr Uncertain significance Single submitter
- NCAPD3 p.His86Arg Uncertain significance Single submitter
- NCAPD3 p.Ile1000Val Uncertain significance Single submitter
- NCAPD3 p.Ile1201Val Uncertain significance Single submitter
- NCAPD3 p.Ile1204Val Uncertain significance Single submitter
- NCAPD3 p.Ile1352Thr Uncertain significance Single submitter
- NCAPD3 p.Ile1413Val Uncertain significance Single submitter
- NCAPD3 p.Ile1432Val Uncertain significance Single submitter
- NCAPD3 p.Ile216Val Uncertain significance Single submitter
- NCAPD3 p.Ile273Leu Uncertain significance Single submitter
- NCAPD3 p.Ile394Thr Uncertain significance Single submitter
- NCAPD3 p.Ile483Val Uncertain significance Single submitter
- NCAPD3 p.Ile651Thr Uncertain significance Single submitter
- NCAPD3 p.Ile651Val Uncertain significance Single submitter
- NCAPD3 p.Ile744Val Uncertain significance Single submitter
- NCAPD3 p.Ile974Met Uncertain significance Single submitter
- NCAPD3 p.Leu1227Val Uncertain significance Single submitter
- NCAPD3 p.Leu1349Pro Uncertain significance Single submitter
- NCAPD3 p.Leu1459Met Uncertain significance Single submitter
- NCAPD3 p.Leu1494Met Uncertain significance Single submitter
- NCAPD3 p.Leu21Ile Uncertain significance Single submitter
- NCAPD3 p.Leu419Val Uncertain significance Single submitter
- NCAPD3 p.Leu603Val Uncertain significance Single submitter
- NCAPD3 p.Leu647Pro Uncertain significance Single submitter
-
NCAPD3 p.Lys102Gln
Uncertain significance
Single submitter
intellectual disability
-
NCAPD3 p.Lys1343Thr
Uncertain significance
Single submitter
microcephaly 22, primary, autosomal recessive
- NCAPD3 p.Lys1444Asn Uncertain significance Single submitter
- NCAPD3 p.Lys1479Glu Uncertain significance Single submitter
- NCAPD3 p.Lys149Arg Uncertain significance Single submitter
- NCAPD3 p.Lys181Glu Uncertain significance Single submitter
- NCAPD3 p.Lys229Arg Uncertain significance Single submitter
- NCAPD3 p.Lys405Glu Uncertain significance Single submitter
- NCAPD3 p.Lys437Asn Uncertain significance Single submitter
- NCAPD3 p.Lys695Arg Uncertain significance Single submitter
- NCAPD3 p.Lys841Arg Uncertain significance Single submitter
- NCAPD3 p.Lys873Arg Uncertain significance Single submitter
- NCAPD3 p.Met1159Val Uncertain significance Single submitter
- NCAPD3 p.Met1174Val Uncertain significance Single submitter
- NCAPD3 p.Met1181Ile Uncertain significance Single submitter
- NCAPD3 p.Met190Thr Uncertain significance Single submitter
- NCAPD3 p.Met303Ile Uncertain significance Single submitter
- NCAPD3 p.Met848Val Uncertain significance Single submitter
- NCAPD3 p.Met975Ile Uncertain significance Single submitter
Predictors split 25
The independent predictors disagree with each other — read with care.
- NCAPD3 p.Ala464Ser Uncertain significance Single submitter
- NCAPD3 p.Arg596Gln Uncertain significance Single submitter
- NCAPD3 p.Arg652Trp Uncertain significance Single submitter
- NCAPD3 p.Arg774Trp Uncertain significance Single submitter
- NCAPD3 p.Arg874Cys Uncertain significance Single submitter
- NCAPD3 p.Asn1048Lys Uncertain significance Single submitter
- NCAPD3 p.Asp590Tyr Uncertain significance Single submitter
- NCAPD3 p.Asp661Tyr Uncertain significance Single submitter
- NCAPD3 p.Glu1261Gly Uncertain significance Single submitter
- NCAPD3 p.Glu935Lys Uncertain significance Single submitter
- NCAPD3 p.Gly1036Arg Uncertain significance Single submitter
- NCAPD3 p.His922Arg Uncertain significance Single submitter
- NCAPD3 p.Leu1223Phe Uncertain significance Single submitter
- NCAPD3 p.Leu147Pro Uncertain significance Single submitter
- NCAPD3 p.Lys1186Asn Uncertain significance Single submitter
- NCAPD3 p.Met1224Arg Uncertain significance Single submitter
- NCAPD3 p.Pro1049Thr Uncertain significance Single submitter
- NCAPD3 p.Pro611Arg Uncertain significance Single submitter
- NCAPD3 p.Pro63Arg Uncertain significance Single submitter
- NCAPD3 p.Ser1190Pro Uncertain significance Single submitter
- NCAPD3 p.Ser715Leu Uncertain significance Single submitter
- NCAPD3 p.Thr634Ile Uncertain significance Single submitter
- NCAPD3 p.Thr712Lys Uncertain significance Single submitter
-
NCAPD3 p.Thr712Met
Conflicting
Single submitter
microcephaly 22, primary, autosomal recessive
-
NCAPD3 p.Glu1153Ala
Pathogenic
No assertion criteria
microcephaly 22, primary, autosomal recessive
All NCAPD3 variants
Pathogenic 5
- c.2675-1G>A Single submitter microcephaly 22, primary, autosomal recessive
- p.Lys1093fs Single submitter microcephaly 22, primary, autosomal recessive
- c.382+14A>G No assertion criteria microcephaly 22, primary, autosomal recessive
- p.Glu1153Ala No assertion criteria microcephaly 22, primary, autosomal recessive ⚠
- p.Val595fs No assertion criteria microcephaly 22, primary, autosomal recessive
Likely pathogenic 4
- c.4388+1G>A Multiple submitters microcephaly 22, primary, autosomal recessive
- p.Arg1235Ter Single submitter microcephaly 22, primary, autosomal recessive
- p.Arg425fs Single submitter microcephaly 22, primary, autosomal recessive
- p.Gln1077Ter Single submitter microcephaly 22, primary, autosomal recessive
Conflicting classifications of pathogenicity 5
- p.Asn753Asp Single submitter microcephaly 22, primary, autosomal recessive ⚠
- p.Cys760Gly Single submitter intellectual disability ⚠
- p.Lys939Arg Single submitter microcephaly 22, primary, autosomal recessive ⚠
- p.Pro1377Ser Single submitter ⚠
- p.Thr712Met Single submitter microcephaly 22, primary, autosomal recessive ⚠
Benign 17
- c.1090-33A>G Multiple submitters microcephaly 22, primary, autosomal recessive
- c.1215+28G>A Multiple submitters microcephaly 22, primary, autosomal recessive
- c.1525+18T>A Multiple submitters microcephaly 22, primary, autosomal recessive
- c.1689+20A>G Multiple submitters microcephaly 22, primary, autosomal recessive
- p.Ala1279= Multiple submitters
- p.Asp662Asn Multiple submitters
- p.Gly576Asp Multiple submitters intellectual disability
- p.His1407Gln Multiple submitters
- p.Lys1359Gln Multiple submitters
- p.Pro1298Leu Multiple submitters
- p.Pro228= Multiple submitters
- p.Ser1034Arg Multiple submitters
- p.Thr710= Multiple submitters
- p.Val1312Met Multiple submitters
- p.Val964= Multiple submitters microcephaly 22, primary, autosomal recessive
- p.Ala1361= No assertion criteria NCAPD3-related disorder
- p.Arg1490Gln No assertion criteria NCAPD3-related disorder
Benign/Likely benign 6
- p.Arg1448Trp Multiple submitters
- p.Arg731Lys Multiple submitters
- p.Gln1182= Multiple submitters
- p.Ile42Thr Multiple submitters intellectual disability
- p.Pro907Thr Multiple submitters
- p.Thr1388Met Multiple submitters intellectual disability
Likely benign 72
- p.Gly128= Multiple submitters
- p.Phe1035= Multiple submitters
- c.1468+9G>A Single submitter
- c.1824+20A>G Single submitter
- c.2046-5dup Single submitter
- c.2335+20T>C Single submitter
- c.2451+16C>G Single submitter
- c.3374-13C>T Single submitter
- c.3374-17C>T Single submitter
- c.3374-4T>G Single submitter
- c.3573+16C>T Single submitter
- c.3573+3G>A Single submitter NCAPD3-related disorder
- c.4252+14C>G Single submitter
- c.795-3dup Single submitter
- c.795-4T>A Single submitter
- p.Ala798= Single submitter
- p.Arg1448Gln Single submitter
- p.Arg318His Single submitter
- p.Arg519His Single submitter
- p.Arg834Cys Single submitter
- p.Asn556= Single submitter
- p.Asp954= Single submitter
- p.Gln108Arg Single submitter
- p.Gln197Glu Single submitter
- p.Gly174Arg Single submitter
- p.Gly524Glu Single submitter
- p.Ile307Met Single submitter
- p.Ile765= Single submitter
- p.Ile962Val Single submitter
- p.Leu949= Single submitter
- p.Pro1076= Single submitter
- p.Pro1306Ala Single submitter
- p.Pro1416= Single submitter
- p.Pro626= Single submitter
- p.Pro906Leu Single submitter
- p.Ser339= Single submitter
- p.Ser377= Single submitter
- p.Ser480= Single submitter
- p.Ser885= Single submitter
- p.Thr821= Single submitter
- p.Thr845Ala Single submitter
- p.Val1297Met Single submitter
- p.Val134= Single submitter
- c.1525+6G>C No assertion criteria NCAPD3-related disorder
- c.1616-4A>G No assertion criteria NCAPD3-related disorder
- c.2046-5del No assertion criteria NCAPD3-related disorder
- c.2046-5T>C No assertion criteria NCAPD3-related disorder
- c.2675-4G>A No assertion criteria NCAPD3-related disorder
- c.4253-7T>C No assertion criteria NCAPD3-related disorder
- c.4327+8C>A No assertion criteria NCAPD3-related disorder
- c.64+10T>G No assertion criteria NCAPD3-related disorder
- c.*8C>T No assertion criteria NCAPD3-related disorder
- p.Ala375= No assertion criteria NCAPD3-related disorder
- p.Ala903= No assertion criteria NCAPD3-related disorder
- p.Arg1371Gln No assertion criteria NCAPD3-related disorder
- p.Asp1137= No assertion criteria NCAPD3-related disorder
- p.Asp661= No assertion criteria NCAPD3-related disorder
- p.Asp800= No assertion criteria NCAPD3-related disorder
- p.Cys613= No assertion criteria NCAPD3-related disorder
- p.Glu1105= No assertion criteria NCAPD3-related disorder
- p.Glu1171del No assertion criteria intellectual disability
- p.Glu189Gln No assertion criteria NCAPD3-related disorder
- p.His260Asp No assertion criteria NCAPD3-related disorder
- p.Leu1136= No assertion criteria NCAPD3-related disorder
- p.Pro173= No assertion criteria NCAPD3-related disorder
- p.Pro908= No assertion criteria NCAPD3-related disorder
- p.Ser1207= No assertion criteria NCAPD3-related disorder
- p.Ser715= No assertion criteria NCAPD3-related disorder
- p.Ter1499= No assertion criteria NCAPD3-related disorder
- p.Tyr856= No assertion criteria NCAPD3-related disorder
- p.Val1148= No assertion criteria NCAPD3-related disorder
- p.Val353= No assertion criteria NCAPD3-related disorder
Uncertain significance 248
- p.Ala334Thr Multiple submitters microcephaly 22, primary, autosomal recessive ⚠
- p.Arg519Cys Multiple submitters ⚠
- p.Gly1451Arg Multiple submitters ⚠
- p.Lys221Asn Multiple submitters NCAPD3-related disorder ⚠
- c.3572_3573+2del Single submitter microcephaly 22, primary, autosomal recessive
- c.3867+5G>A Single submitter
- p.Ala1125Gly Single submitter ⚠
- p.Ala1158Ser Single submitter ⚠
- p.Ala1175Val Single submitter ⚠
- p.Ala1177Gly Single submitter
- p.Ala1177Val Single submitter
- p.Ala1279Ser Single submitter ⚠
- p.Ala1285Glu Single submitter ⚠
- p.Ala1344Val Single submitter ⚠
- p.Ala1476Thr Single submitter ⚠
- p.Ala1483Ser Single submitter ⚠
- p.Ala1497Asp Single submitter ⚠
- p.Ala340Thr Single submitter ⚠
- p.Ala391Thr Single submitter ⚠
- p.Ala457Val Single submitter ⚠
- p.Ala464Ser Single submitter ⚠
- p.Ala667Val Single submitter ⚠
- p.Ala669Val Single submitter ⚠
- p.Ala688Ser Single submitter microcephaly 22, primary, autosomal recessive ⚠
- p.Ala726Thr Single submitter ⚠
- p.Ala884Val Single submitter ⚠
- p.Ala903Thr Single submitter microcephaly 22, primary, autosomal recessive ⚠
- p.Arg1083Trp Single submitter ⚠
- p.Arg1095Ile Single submitter ⚠
- p.Arg1195Gly Single submitter ⚠
- p.Arg1221Gln Single submitter ⚠
- p.Arg1221Trp Single submitter ⚠
- p.Arg1369Gln Single submitter ⚠
- p.Arg1436Trp Single submitter ⚠
- p.Arg1473Leu Single submitter ⚠
- p.Arg1473Trp Single submitter ⚠
- p.Arg1477Thr Single submitter ⚠
- p.Arg184Ser Single submitter ⚠
- p.Arg207Trp Single submitter ⚠
- p.Arg318Cys Single submitter ⚠
- p.Arg318Gly Single submitter ⚠
- p.Arg354Cys Single submitter ⚠
- p.Arg402Gln Single submitter ⚠
- p.Arg558Trp Single submitter ⚠
- p.Arg596Gln Single submitter ⚠
- p.Arg652Gly Single submitter ⚠
- p.Arg652Trp Single submitter ⚠
- p.Arg683Gln Single submitter ⚠
- p.Arg774Gln Single submitter ⚠
- p.Arg774Trp Single submitter ⚠
- p.Arg874Cys Single submitter ⚠
- p.Arg874His Single submitter ⚠
- p.Arg995Gln Single submitter ⚠
- p.Asn1048Lys Single submitter ⚠
- p.Asn1065_Tyr1066insTer Single submitter microcephaly 22, primary, autosomal recessive
- p.Asn1073Ser Single submitter ⚠
- p.Asn1114Asp Single submitter ⚠
- p.Asn1114Ser Single submitter ⚠
- p.Asn1452Ser Single submitter ⚠
- p.Asn172Ile Single submitter ⚠
- p.Asn837Asp Single submitter ⚠
- p.Asn83Thr Single submitter ⚠
- p.Asn982Ser Single submitter ⚠
- p.Asp1166Asn Single submitter ⚠
- p.Asp1233Glu Single submitter ⚠
- p.Asp141Asn Single submitter ⚠
- p.Asp187Gly Single submitter ⚠
- p.Asp191Gly Single submitter ⚠
- p.Asp191Tyr Single submitter ⚠
- p.Asp414Gly Single submitter ⚠
- p.Asp428Asn Single submitter ⚠
- p.Asp590Tyr Single submitter ⚠
- p.Asp661Tyr Single submitter ⚠
- p.Asp662His Single submitter ⚠
- p.Asp775Glu Single submitter ⚠
- p.Asp775His Single submitter ⚠
- p.Asp851Glu Single submitter ⚠
- p.Cys1456Arg Single submitter
- p.Cys471Tyr Single submitter
- p.Cys613Tyr Single submitter ⚠
- p.Cys631Gly Single submitter ⚠
- p.Cys986Phe Single submitter ⚠
- p.Gln1077Pro Single submitter
- p.Gln1191Lys Single submitter ⚠
- p.Gln1193Glu Single submitter ⚠
- p.Gln1260His Single submitter ⚠
- p.Gln1399Glu Single submitter ⚠
- p.Gln197His Single submitter ⚠
- p.Gln636Glu Single submitter ⚠
- p.Gln909Lys Single submitter ⚠
- p.Glu1081Asp Single submitter ⚠
- p.Glu1171Asp Single submitter ⚠
- p.Glu1171Lys Single submitter ⚠
- p.Glu1222Lys Single submitter ⚠
- p.Glu1253Gln Single submitter ⚠
- p.Glu1261Gly Single submitter ⚠
- p.Glu1404Lys Single submitter ⚠
- p.Glu1417Ala Single submitter ⚠
- p.Glu154Asp Single submitter ⚠
- p.Glu198Lys Single submitter ⚠
- p.Glu200Lys Single submitter ⚠
- p.Glu22Gly Single submitter ⚠
- p.Glu244Lys Single submitter ⚠
- p.Glu497Gln Single submitter ⚠
- p.Glu521Lys Single submitter ⚠
- p.Glu632Lys Single submitter ⚠
- p.Glu637Gln Single submitter
- p.Glu816Asp Single submitter ⚠
- p.Glu81Gly Single submitter ⚠
- p.Glu935Lys Single submitter ⚠
- p.Glu950Lys Single submitter
- p.Gly1036Arg Single submitter ⚠
- p.Gly1302Cys Single submitter ⚠
- p.Gly1383Arg Single submitter ⚠
- p.Gly1428Ala Single submitter ⚠
- p.Gly180Arg Single submitter ⚠
- p.Gly292Glu Single submitter ⚠
- p.Gly388Glu Single submitter ⚠
- p.Gly623Arg Single submitter ⚠
- p.Gly6Ala Single submitter ⚠
- p.Gly6Val Single submitter ⚠
- p.Gly70Glu Single submitter ⚠
- p.Gly756Glu Single submitter ⚠
- p.Gly846Val Single submitter ⚠
- p.Gly8Asp Single submitter ⚠
- p.His1324Tyr Single submitter ⚠
- p.His218Asp Single submitter ⚠
- p.His833Leu Single submitter ⚠
- p.His833Tyr Single submitter ⚠
- p.His86Arg Single submitter ⚠
- p.His922Arg Single submitter ⚠
- p.Ile1000Val Single submitter ⚠
- p.Ile1201Val Single submitter ⚠
- p.Ile1204Val Single submitter ⚠
- p.Ile1352Thr Single submitter ⚠
- p.Ile1413Val Single submitter ⚠
- p.Ile1432Val Single submitter ⚠
- p.Ile216Val Single submitter ⚠
- p.Ile273Leu Single submitter ⚠
- p.Ile394Thr Single submitter ⚠
- p.Ile483Val Single submitter ⚠
- p.Ile651Thr Single submitter ⚠
- p.Ile651Val Single submitter ⚠
- p.Ile744Val Single submitter ⚠
- p.Ile974Met Single submitter ⚠
- p.Leu1103Ile Single submitter
- p.Leu1223Phe Single submitter ⚠
- p.Leu1227Val Single submitter ⚠
- p.Leu1349Pro Single submitter ⚠
- p.Leu1459Met Single submitter ⚠
- p.Leu147Pro Single submitter ⚠
- p.Leu1494Met Single submitter ⚠
- p.Leu21Ile Single submitter ⚠
- p.Leu304Arg Single submitter
- p.Leu419Val Single submitter ⚠
- p.Leu603Val Single submitter ⚠
- p.Leu647Pro Single submitter ⚠
- p.Lys102Gln Single submitter intellectual disability ⚠
- p.Lys1186Asn Single submitter ⚠
- p.Lys1343Thr Single submitter microcephaly 22, primary, autosomal recessive ⚠
- p.Lys1444Asn Single submitter ⚠
- p.Lys1479Glu Single submitter ⚠
- p.Lys1495Ter Single submitter
- p.Lys149Arg Single submitter ⚠
- p.Lys181Glu Single submitter ⚠
- p.Lys229Arg Single submitter ⚠
- p.Lys405Glu Single submitter ⚠
- p.Lys437Asn Single submitter ⚠
- p.Lys695Arg Single submitter ⚠
- p.Lys841Arg Single submitter ⚠
- p.Lys873Arg Single submitter ⚠
- p.Met1159Val Single submitter ⚠
- p.Met1174Val Single submitter ⚠
- p.Met1181Ile Single submitter ⚠
- p.Met1224Arg Single submitter ⚠
- p.Met190Thr Single submitter ⚠
- p.Met303Ile Single submitter ⚠
- p.Met848Val Single submitter ⚠
- p.Met975Ile Single submitter ⚠
- p.Phe1113Tyr Single submitter
- p.Pro1049Ser Single submitter ⚠
- p.Pro1049Thr Single submitter ⚠
- p.Pro1133Ser Single submitter ⚠
- p.Pro1133Thr Single submitter ⚠
- p.Pro1163Ala Single submitter ⚠
- p.Pro1218Ala Single submitter ⚠
- p.Pro1218Arg Single submitter
- p.Pro1298Ser Single submitter ⚠
- p.Pro1300Leu Single submitter ⚠
- p.Pro1318Leu Single submitter ⚠
- p.Pro1467Leu Single submitter ⚠
- p.Pro173Leu Single submitter ⚠
- p.Pro500Arg Single submitter ⚠
- p.Pro611Arg Single submitter ⚠
- p.Pro63Arg Single submitter ⚠
- p.Pro813Ala Single submitter ⚠
- p.Pro902Ala Single submitter ⚠
- p.Pro907His Single submitter ⚠
- p.Pro908Leu Single submitter ⚠
- p.Pro908Thr Single submitter ⚠
- p.Ser1190Pro Single submitter ⚠
- p.Ser1370Arg Single submitter ⚠
- p.Ser1401Ala Single submitter ⚠
- p.Ser1439Leu Single submitter ⚠
- p.Ser41Asn Single submitter ⚠
- p.Ser462Gly Single submitter ⚠
- p.Ser482Asn Single submitter ⚠
- p.Ser523Leu Single submitter ⚠
- p.Ser530Asn Single submitter ⚠
- p.Ser537Pro Single submitter ⚠
- p.Ser659Phe Single submitter ⚠
- p.Ser682Arg Single submitter ⚠
- p.Ser715Leu Single submitter ⚠
- p.Ser71Phe Single submitter ⚠
- p.Ser745Thr Single submitter ⚠
- p.Ser917Cys Single submitter ⚠
- p.Thr1108Ala Single submitter ⚠
- p.Thr1145Met Single submitter ⚠
- p.Thr1278Met Single submitter ⚠
- p.Thr1331Pro Single submitter ⚠
- p.Thr33Ile Single submitter ⚠
- p.Thr35Ala Single submitter ⚠
- p.Thr372Ser Single submitter ⚠
- p.Thr459Ala Single submitter ⚠
- p.Thr555Asn Single submitter ⚠
- p.Thr634Ala Single submitter ⚠
- p.Thr634Ile Single submitter ⚠
- p.Thr672Ile Single submitter ⚠
- p.Thr701Ile Single submitter ⚠
- p.Thr712Lys Single submitter ⚠
- p.Thr830Ala Single submitter ⚠
- p.Tyr282Cys Single submitter ⚠
- p.Val1211Ala Single submitter ⚠
- p.Val1211Leu Single submitter ⚠
- p.Val1325Ile Single submitter ⚠
- p.Val1362Leu Single submitter ⚠
- p.Val1362Met Single submitter ⚠
- p.Val1408Met Single submitter ⚠
- p.Val1429Phe Single submitter ⚠
- p.Val261Leu Single submitter ⚠
- p.Val593Leu Single submitter ⚠
- p.Val614Met Single submitter ⚠
- p.Val781Asp Single submitter ⚠
- p.Val799Leu Single submitter
- p.Val854Met Single submitter
- p.Val951Ala Single submitter ⚠
- p.Val955Met Single submitter ⚠
- p.Val961Ile Single submitter ⚠