CDCA7 — 271 ClinVar variants
All ClinVar germline CDCA7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 83 flagged for review →
3 Likely pathogenic · 2 Conflicting · 14 Benign · 1 Benign/Likely benign · 133 Likely benign · 118 Uncertain significance
Full CDCA7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 83
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 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CDCA7 p.Arg383His
Conflicting
Single submitter
immunodeficiency-centromeric instability-facial anomalies syndrome 3
Predictors lean, ClinVar uncertain 44
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CDCA7 p.Ala157Val Uncertain significance Multiple submitters
-
CDCA7 p.Ala391Gly
Uncertain significance
Multiple submitters
immunodeficiency-centromeric instability-facial anomalies syndrome 3
- CDCA7 p.Arg134Leu Uncertain significance Multiple submitters
- CDCA7 p.Arg171Leu Uncertain significance Multiple submitters
- CDCA7 p.Arg239Gln Uncertain significance Multiple submitters
- CDCA7 p.Arg257Cys Uncertain significance Multiple submitters
- CDCA7 p.Asp232Glu Uncertain significance Multiple submitters
- CDCA7 p.Leu302Val Uncertain significance Multiple submitters
- CDCA7 p.Met191Val Uncertain significance Multiple submitters
-
CDCA7 p.Pro244Leu
Uncertain significance
Multiple submitters
immunodeficiency-centromeric instability-facial anomalies syndrome 3
- CDCA7 p.Pro401Ala Uncertain significance Multiple submitters
- CDCA7 p.Ser132Leu Uncertain significance Multiple submitters
- CDCA7 p.Ser221Leu Uncertain significance Multiple submitters
- CDCA7 p.Ser221Pro Uncertain significance Multiple submitters
- CDCA7 p.Ala152Val Uncertain significance Single submitter
- CDCA7 p.Ala168Gly Uncertain significance Single submitter
- CDCA7 p.Ala272Thr Uncertain significance Single submitter
- CDCA7 p.Ala3Thr Uncertain significance Single submitter
- CDCA7 p.Arg12Lys Uncertain significance Single submitter
- CDCA7 p.Arg134Gln Uncertain significance Single submitter
- CDCA7 p.Arg254Trp Uncertain significance Single submitter
- CDCA7 p.Arg412Trp Uncertain significance Single submitter
- CDCA7 p.Asn182Ser Uncertain significance Single submitter
- CDCA7 p.Asn365Ile Uncertain significance Single submitter
- CDCA7 p.Asn434Ser Uncertain significance Single submitter
- CDCA7 p.Asp39Gly Uncertain significance Single submitter
- CDCA7 p.Glu188Gly Uncertain significance Single submitter
- CDCA7 p.Glu386Lys Uncertain significance Single submitter
- CDCA7 p.His145Arg Uncertain significance Single submitter
- CDCA7 p.His226Gln Uncertain significance Single submitter
- CDCA7 p.Leu149Ile Uncertain significance Single submitter
- CDCA7 p.Leu314Pro Uncertain significance Single submitter
- CDCA7 p.Lys440Glu Uncertain significance Single submitter
- CDCA7 p.Met285Leu Uncertain significance Single submitter
- CDCA7 p.Pro173Ser Uncertain significance Single submitter
- CDCA7 p.Pro227Thr Uncertain significance Single submitter
- CDCA7 p.Pro303Ser Uncertain significance Single submitter
- CDCA7 p.Pro315Leu Uncertain significance Single submitter
- CDCA7 p.Ser308Thr Uncertain significance Single submitter
- CDCA7 p.Thr49Met Uncertain significance Single submitter
- CDCA7 p.Tyr296Cys Uncertain significance Single submitter
- CDCA7 p.Tyr341Cys Uncertain significance Single submitter
- CDCA7 p.Val293Met Uncertain significance Single submitter
- CDCA7 p.Val371Ile Uncertain significance Single submitter
Predictors split 38
The independent predictors disagree with each other — read with care.
- CDCA7 p.Arg134Trp Uncertain significance Multiple submitters
- CDCA7 p.Arg171Cys Uncertain significance Multiple submitters
- CDCA7 p.Arg254Leu Uncertain significance Multiple submitters
- CDCA7 p.Arg265Gln Uncertain significance Multiple submitters
- CDCA7 p.Arg306Cys Uncertain significance Multiple submitters
- CDCA7 p.Arg319Cys Uncertain significance Multiple submitters
- CDCA7 p.Arg381Gln Uncertain significance Multiple submitters
- CDCA7 p.Asp415Asn Uncertain significance Multiple submitters
- CDCA7 p.Pro395Leu Uncertain significance Multiple submitters
- CDCA7 p.Arg140His Uncertain significance Single submitter
- CDCA7 p.Arg140Ser Uncertain significance Single submitter
- CDCA7 p.Arg158Gln Uncertain significance Single submitter
- CDCA7 p.Arg158Trp Uncertain significance Single submitter
- CDCA7 p.Arg223Cys Uncertain significance Single submitter
- CDCA7 p.Arg241Cys Uncertain significance Single submitter
- CDCA7 p.Arg241Gly Uncertain significance Single submitter
- CDCA7 p.Arg241His Uncertain significance Single submitter
- CDCA7 p.Arg263Lys Uncertain significance Single submitter
- CDCA7 p.Arg265Trp Uncertain significance Single submitter
- CDCA7 p.Arg306His Conflicting Single submitter
- CDCA7 p.Arg306Ser Uncertain significance Single submitter
- CDCA7 p.Arg307Cys Uncertain significance Single submitter
- CDCA7 p.Arg307His Uncertain significance Single submitter
- CDCA7 p.Arg337Gln Uncertain significance Single submitter
- CDCA7 p.Arg343Cys Uncertain significance Single submitter
- CDCA7 p.Asn331Lys Uncertain significance Single submitter
- CDCA7 p.Asp282Glu Uncertain significance Single submitter
- CDCA7 p.Asp282Val Uncertain significance Single submitter
- CDCA7 p.Glu278Gln Uncertain significance Single submitter
- CDCA7 p.Ile317Thr Uncertain significance Single submitter
- CDCA7 p.Leu286Phe Uncertain significance Single submitter
- CDCA7 p.Phe155Leu Uncertain significance Single submitter
- CDCA7 p.Pro320Ala Uncertain significance Single submitter
- CDCA7 p.Ser141Gly Uncertain significance Single submitter
-
CDCA7 p.Ser183Pro
Uncertain significance
Single submitter
immunodeficiency-centromeric instability-facial anomalies syndrome 3
- CDCA7 p.Val151Leu Uncertain significance Single submitter
- CDCA7 p.Val312Met Uncertain significance Single submitter
- CDCA7 p.Val6Met Uncertain significance Single submitter
All CDCA7 variants
Likely pathogenic 3
- p.Arg353Cys Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 3
- p.Arg353His Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 3
- p.Cys408Tyr Single submitter
Conflicting classifications of pathogenicity 2
- p.Arg306His Single submitter ⚠
- p.Arg383His Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 3 ⚠
Benign 14
- c.22-17G>T Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome 3
- c.622-128C>T Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome 3
- c.894+14A>G Multiple submitters
- c.895-27C>G Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome 3
- p.Ala104= Multiple submitters
- p.Arg161= Multiple submitters
- p.Thr359= Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome 3
- c.1322+19del Single submitter
- c.1323-12del Single submitter
- c.621+19G>A Single submitter
- c.700-16T>C Single submitter
- c.895-5T>C Single submitter
- p.Gly268= Single submitter
- p.Gly370= Single submitter
Benign/Likely benign 1
- c.1322+19dup Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome 3
Likely benign 133
- p.Ala450= Multiple submitters
- p.Arg249= Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome 3
- p.Asn331= Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome 3
- c.1035+13A>G Single submitter
- c.1035+14A>G Single submitter
- c.1035+17T>C Single submitter
- c.1035+8C>A Single submitter
- c.1035+9C>T Single submitter
- c.1036-17T>A Single submitter
- c.1036-4G>A Single submitter
- c.1036-8A>G Single submitter
- c.1185+13C>T Single submitter
- c.1185+20del Single submitter
- c.1185+8C>A Single submitter
- c.1185+8C>G Single submitter
- c.1186-15A>G Single submitter
- c.1186-20G>A Single submitter
- c.1186-4T>G Single submitter
- c.1322+11T>C Single submitter
- c.1322+17_1322+19del Single submitter
- c.1322+19T>C Single submitter
- c.1322+8G>A Single submitter
- c.1323-16C>G Single submitter
- c.1323-20T>C Single submitter
- c.147+11C>T Single submitter
- c.147+13T>C Single submitter
- c.147+14G>A Single submitter
- c.147+15A>C Single submitter
- c.147+17A>G Single submitter
- c.147+7G>C Single submitter
- c.147+9del Single submitter
- c.21+12G>A Single submitter
- c.21+13C>T Single submitter
- c.21+14G>A Single submitter
- c.21+15G>A Single submitter
- c.21+20A>G Single submitter
- c.22-12T>G Single submitter
- c.22-15T>C Single submitter
- c.22-17G>A Single submitter
- c.22-17G>C Single submitter
- c.384+18A>G Single submitter
- c.384+8C>T Single submitter
- c.384+9G>A Single submitter
- c.385-17T>G Single submitter
- c.385-18C>A Single submitter
- c.385-4T>A Single submitter
- c.385-4T>C Single submitter
- c.621+16T>A Single submitter
- c.621+16T>C Single submitter
- c.621+20T>G Single submitter
- c.622-17A>C Single submitter
- c.622-4T>G Single submitter
- c.622-7T>G Single submitter
- c.699+20T>C Single submitter
- c.699+7A>T Single submitter
- c.700-13G>A Single submitter
- c.700-17A>G Single submitter
- c.700-4T>C Single submitter
- c.700-6G>T Single submitter
- c.894+11C>T Single submitter
- c.894+16T>C Single submitter
- c.895-16A>G Single submitter
- c.895-4G>A Single submitter
- c.895-8T>C Single submitter
- c.895-9G>C Single submitter
- p.Ala109= Single submitter
- p.Ala152= Single submitter
- p.Ala157= Single submitter
- p.Ala42= Single submitter
- p.Arg134= Single submitter
- p.Arg138= Single submitter
- p.Arg144= Single submitter
- p.Arg171= Single submitter
- p.Arg197= Single submitter
- p.Arg239= Single submitter
- p.Arg319= Single submitter
- p.Arg5= Single submitter
- p.Arg54= Single submitter
- p.Asn101= Single submitter
- p.Asn382= Single submitter
- p.Asn396= Single submitter
- p.Asp112= Single submitter
- p.Asp271= Single submitter
- p.Asp294Val Single submitter
- p.Asp367Glu Single submitter
- p.Asp39= Single submitter
- p.Cys117= Single submitter
- p.Cys399= Single submitter
- p.Cys75= Single submitter
- p.Gln351= Single submitter
- p.Gln449= Single submitter
- p.Glu169= Single submitter
- p.Glu186= Single submitter
- p.Glu276= Single submitter
- p.Glu279= Single submitter
- p.Gly230= Single submitter
- p.Gly431= Single submitter
- p.His398= Single submitter
- p.Leu130= Single submitter
- p.Leu25= Single submitter
- p.Leu267= Single submitter
- p.Leu392= Single submitter
- p.Leu61= Single submitter
- p.Lys15= Single submitter
- p.Lys154= Single submitter
- p.Lys167= Single submitter
- p.Lys24= Single submitter
- p.Lys283= Single submitter
- p.Phe410= Single submitter
- p.Pro227= Single submitter
- p.Pro227Ser Single submitter
- p.Pro238= Single submitter
- p.Pro315= Single submitter
- p.Pro400= Single submitter
- p.Pro97= Single submitter
- p.Ser177= Single submitter
- p.Ser183= Single submitter
- p.Ser217= Single submitter
- p.Ser221= Single submitter
- p.Ser231= Single submitter
- p.Ser31= Single submitter
- p.Ser311= Single submitter
- p.Thr139= Single submitter
- p.Thr242= Single submitter
- p.Thr260= Single submitter
- p.Thr292= Single submitter
- p.Thr420= Single submitter
- p.Tyr384= Single submitter
- p.Val371= Single submitter
- p.Val6= Single submitter
- p.Val64= Single submitter
- p.Val85= Single submitter
- p.Val99= Single submitter
Uncertain significance 118
- c.384+2T>C Multiple submitters
- p.Ala157Val Multiple submitters ⚠
- p.Ala391Gly Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome 3 ⚠
- p.Arg134Leu Multiple submitters ⚠
- p.Arg134Trp Multiple submitters ⚠
- p.Arg171Cys Multiple submitters ⚠
- p.Arg171Leu Multiple submitters ⚠
- p.Arg239Gln Multiple submitters ⚠
- p.Arg254Leu Multiple submitters ⚠
- p.Arg257Cys Multiple submitters ⚠
- p.Arg265Gln Multiple submitters ⚠
- p.Arg306Cys Multiple submitters ⚠
- p.Arg319Cys Multiple submitters ⚠
- p.Arg381Gln Multiple submitters ⚠
- p.Asp232Glu Multiple submitters ⚠
- p.Asp415Asn Multiple submitters ⚠
- p.Leu302Val Multiple submitters ⚠
- p.Met191Val Multiple submitters ⚠
- p.Phe65Cys Multiple submitters
- p.Pro244Leu Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome 3 ⚠
- p.Pro395Leu Multiple submitters ⚠
- p.Pro401Ala Multiple submitters ⚠
- p.Ser132Leu Multiple submitters ⚠
- p.Ser221Leu Multiple submitters ⚠
- p.Ser221Pro Multiple submitters ⚠
- p.Ser78Ala Multiple submitters
- p.Tyr66fs Multiple submitters
- c.1322+7G>T Single submitter
- c.21+3G>A Single submitter
- c.22-1G>A Single submitter
- c.22-2A>C Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 3
- p.Ala152Val Single submitter ⚠
- p.Ala168Gly Single submitter ⚠
- p.Ala272Thr Single submitter ⚠
- p.Ala3Thr Single submitter ⚠
- p.Arg12Lys Single submitter ⚠
- p.Arg134Gln Single submitter ⚠
- p.Arg140His Single submitter ⚠
- p.Arg140Ser Single submitter ⚠
- p.Arg158Gln Single submitter ⚠
- p.Arg158Trp Single submitter ⚠
- p.Arg223Cys Single submitter ⚠
- p.Arg241Cys Single submitter ⚠
- p.Arg241Gly Single submitter ⚠
- p.Arg241His Single submitter ⚠
- p.Arg254Trp Single submitter ⚠
- p.Arg263Lys Single submitter ⚠
- p.Arg265Trp Single submitter ⚠
- p.Arg306Ser Single submitter ⚠
- p.Arg307Cys Single submitter ⚠
- p.Arg307His Single submitter ⚠
- p.Arg337Gln Single submitter ⚠
- p.Arg343Cys Single submitter ⚠
- p.Arg412Trp Single submitter ⚠
- p.Arg96Lys Single submitter
- p.Asn182Ser Single submitter ⚠
- p.Asn331Lys Single submitter ⚠
- p.Asn362fs Single submitter
- p.Asn365Ile Single submitter ⚠
- p.Asn434Ser Single submitter ⚠
- p.Asp110His Single submitter
- p.Asp112Ter Single submitter
- p.Asp282Glu Single submitter ⚠
- p.Asp282Val Single submitter ⚠
- p.Asp39Gly Single submitter ⚠
- p.Asp56Val Single submitter
- p.Asp68Asn Single submitter
- p.Asp84Asn Single submitter
- p.Asp84Glu Single submitter
- p.Asp84Gly Single submitter
- p.Gln234= Single submitter
- p.Gln83Arg Single submitter
- p.Glu102Lys Single submitter
- p.Glu188Gly Single submitter ⚠
- p.Glu278Gln Single submitter ⚠
- p.Glu281del Single submitter
- p.Glu386Lys Single submitter ⚠
- p.Gly118Ser Single submitter
- p.Gly127Ala Single submitter
- p.Gly245fs Single submitter
- p.Gly76Ser Single submitter
- p.His145Arg Single submitter ⚠
- p.His226Gln Single submitter ⚠
- p.Ile317Thr Single submitter ⚠
- p.Leu149Ile Single submitter ⚠
- p.Leu286Phe Single submitter ⚠
- p.Leu314Pro Single submitter ⚠
- p.Lys15del Single submitter
- p.Lys18fs Single submitter
- p.Lys440Glu Single submitter ⚠
- p.Met128Ile Single submitter
- p.Met285Leu Single submitter ⚠
- p.Phe155Leu Single submitter ⚠
- p.Pro173Ser Single submitter ⚠
- p.Pro227Thr Single submitter ⚠
- p.Pro244= Single submitter
- p.Pro303Ser Single submitter ⚠
- p.Pro315Leu Single submitter ⚠
- p.Pro320Ala Single submitter ⚠
- p.Pro395= Single submitter
- p.Ser122Arg Single submitter
- p.Ser141Gly Single submitter ⚠
- p.Ser183Pro Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 3 ⚠
- p.Ser235Ter Single submitter
- p.Ser262Ter Single submitter
- p.Ser308Thr Single submitter ⚠
- p.Thr49Met Single submitter ⚠
- p.Tyr296Cys Single submitter ⚠
- p.Tyr341Cys Single submitter ⚠
- p.Tyr341fs Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 3
- p.Tyr438_Lys440delinsTer Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 3
- p.Val151Leu Single submitter ⚠
- p.Val293Met Single submitter ⚠
- p.Val312Met Single submitter ⚠
- p.Val371Ile Single submitter ⚠
- p.Val64Ala Single submitter
- p.Val6Met Single submitter ⚠
- p.Val82Leu Single submitter