CDC6 — 256 ClinVar variants
All ClinVar germline CDC6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 126 flagged for review →
11 Conflicting · 8 Benign · 3 Benign/Likely benign · 73 Likely benign · 161 Uncertain significance
Full CDC6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 126
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 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 104
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CDC6 p.Arg21Gln Uncertain significance Multiple submitters
- CDC6 p.Arg21Trp Uncertain significance Multiple submitters
- CDC6 p.Arg325Ser Uncertain significance Multiple submitters
- CDC6 p.Arg494Cys Uncertain significance Multiple submitters
- CDC6 p.Asn118Lys Uncertain significance Multiple submitters
- CDC6 p.Asp455Tyr Uncertain significance Multiple submitters
- CDC6 p.Asp61Asn Uncertain significance Multiple submitters
- CDC6 p.Gln496Leu Uncertain significance Multiple submitters
- CDC6 p.Gly154Val Uncertain significance Multiple submitters
- CDC6 p.Gly293Val Uncertain significance Multiple submitters
- CDC6 p.Leu223Gln Uncertain significance Multiple submitters
- CDC6 p.Leu289Val Uncertain significance Multiple submitters
- CDC6 p.Leu555Val Uncertain significance Multiple submitters
- CDC6 p.Lys25Thr Uncertain significance Multiple submitters
-
CDC6 p.Lys531Glu
Uncertain significance
Multiple submitters
Meier-Gorlin syndrome 5
- CDC6 p.Met264Val Uncertain significance Multiple submitters
- CDC6 p.Tyr486His Uncertain significance Multiple submitters
- CDC6 p.Ala195Gly Uncertain significance Single submitter
- CDC6 p.Ala259Asp Uncertain significance Single submitter
- CDC6 p.Ala273Thr Uncertain significance Single submitter
- CDC6 p.Ala317Gly Uncertain significance Single submitter
- CDC6 p.Ala317Thr Uncertain significance Single submitter
- CDC6 p.Ala488Thr Uncertain significance Single submitter
- CDC6 p.Ala50Pro Uncertain significance Single submitter
- CDC6 p.Ala50Thr Uncertain significance Single submitter
- CDC6 p.Ala544Val Uncertain significance Single submitter
- CDC6 p.Arg187Ser Uncertain significance Single submitter
- CDC6 p.Arg214Gln Uncertain significance Single submitter
- CDC6 p.Arg378Gly Uncertain significance Single submitter
- CDC6 p.Arg378Pro Uncertain significance Single submitter
- CDC6 p.Arg388Cys Uncertain significance Single submitter
- CDC6 p.Arg428Ser Uncertain significance Single submitter
- CDC6 p.Arg47His Uncertain significance Single submitter
- CDC6 p.Arg516Lys Uncertain significance Single submitter
- CDC6 p.Arg528Ser Uncertain significance Single submitter
- CDC6 p.Arg58Cys Uncertain significance Single submitter
- CDC6 p.Arg58His Uncertain significance Single submitter
- CDC6 p.Arg94Gln Uncertain significance Single submitter
- CDC6 p.Asn100Ser Uncertain significance Single submitter
- CDC6 p.Asn24Ser Uncertain significance Single submitter
- CDC6 p.Asn308Ser Uncertain significance Single submitter
- CDC6 p.Asn308Thr Uncertain significance Single submitter
- CDC6 p.Asn38Lys Uncertain significance Single submitter
- CDC6 p.Asn63Ser Uncertain significance Single submitter
-
CDC6 p.Asp170Asn
Uncertain significance
Single submitter
Meier-Gorlin syndrome 5
- CDC6 p.Asp31Glu Uncertain significance Single submitter
- CDC6 p.Asp365Ala Uncertain significance Single submitter
- CDC6 p.Cys138Tyr Uncertain significance Single submitter
- CDC6 p.Cys191Ser Uncertain significance Single submitter
- CDC6 p.Cys417Arg Uncertain significance Single submitter
- CDC6 p.Cys466Tyr Uncertain significance Single submitter
- CDC6 p.Gln366Glu Uncertain significance Single submitter
- CDC6 p.Gln9Arg Uncertain significance Single submitter
- CDC6 p.Glu135Val Uncertain significance Single submitter
- CDC6 p.Glu249Gln Uncertain significance Single submitter
- CDC6 p.Glu249Gly Uncertain significance Single submitter
- CDC6 p.Gly196Ala Uncertain significance Single submitter
- CDC6 p.Gly205Glu Uncertain significance Single submitter
- CDC6 p.Gly84Ser Uncertain significance Single submitter
- CDC6 p.His270Arg Uncertain significance Single submitter
-
CDC6 p.His69Arg
Uncertain significance
Single submitter
microcephaly
- CDC6 p.His89Arg Uncertain significance Single submitter
- CDC6 p.Ile182Val Uncertain significance Single submitter
- CDC6 p.Ile229Val Uncertain significance Single submitter
- CDC6 p.Ile314Thr Uncertain significance Single submitter
- CDC6 p.Ile316Val Uncertain significance Single submitter
- CDC6 p.Ile398Thr Uncertain significance Single submitter
- CDC6 p.Ile398Val Uncertain significance Single submitter
- CDC6 p.Ile438Val Uncertain significance Single submitter
- CDC6 p.Ile518Val Uncertain significance Single submitter
- CDC6 p.Ile554Thr Uncertain significance Single submitter
- CDC6 p.Leu102Arg Uncertain significance Single submitter
- CDC6 p.Leu121Phe Uncertain significance Single submitter
- CDC6 p.Leu19Pro Uncertain significance Single submitter
- CDC6 p.Leu91Val Uncertain significance Single submitter
- CDC6 p.Lys220Asn Uncertain significance Single submitter
- CDC6 p.Lys220Glu Uncertain significance Single submitter
- CDC6 p.Lys33Gln Uncertain significance Single submitter
- CDC6 p.Lys406Arg Uncertain significance Single submitter
- CDC6 p.Lys418Arg Uncertain significance Single submitter
- CDC6 p.Lys462Asn Uncertain significance Single submitter
- CDC6 p.Lys546Asn Uncertain significance Single submitter
- CDC6 p.Met179Thr Uncertain significance Single submitter
- CDC6 p.Met179Val Uncertain significance Single submitter
- CDC6 p.Met263Ile Uncertain significance Single submitter
- CDC6 p.Met263Val Uncertain significance Single submitter
- CDC6 p.Met271Val Uncertain significance Single submitter
- CDC6 p.Met446Leu Uncertain significance Single submitter
- CDC6 p.Phe98Ser Uncertain significance Single submitter
- CDC6 p.Pro304Leu Uncertain significance Single submitter
- CDC6 p.Pro36Thr Uncertain significance Single submitter
- CDC6 p.Pro420Ala Uncertain significance Single submitter
- CDC6 p.Pro52Leu Uncertain significance Single submitter
- CDC6 p.Pro72Leu Uncertain significance Single submitter
- CDC6 p.Pro72Thr Uncertain significance Single submitter
- CDC6 p.Ser134Ala Uncertain significance Single submitter
- CDC6 p.Ser291Arg Uncertain significance Single submitter
- CDC6 p.Ser504Leu Uncertain significance Single submitter
-
CDC6 p.Thr155Ile
Uncertain significance
Single submitter
Meier-Gorlin syndrome 5
- CDC6 p.Thr409Asn Uncertain significance Single submitter
- CDC6 p.Thr409Ile Uncertain significance Single submitter
- CDC6 p.Val163Phe Uncertain significance Single submitter
- CDC6 p.Val401Leu Uncertain significance Single submitter
- CDC6 p.Val465Ile Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
- CDC6 p.Arg528His Uncertain significance Multiple submitters
- CDC6 p.Ser54Asn Uncertain significance Multiple submitters
-
CDC6 p.Thr299Met
Benign
Multiple submitters
Meier-Gorlin syndrome 5
- CDC6 p.Val280Met Uncertain significance Multiple submitters
-
CDC6 p.Val282Ala
Uncertain significance
Multiple submitters
Meier-Gorlin syndrome 5
- CDC6 p.Ala245Pro Uncertain significance Single submitter
- CDC6 p.Ala382Gly Uncertain significance Single submitter
- CDC6 p.Arg171Trp Uncertain significance Single submitter
- CDC6 p.Arg214Trp Conflicting Single submitter
- CDC6 p.Gln217Pro Uncertain significance Single submitter
- CDC6 p.Glu526Gly Uncertain significance Single submitter
- CDC6 p.Ile190Met Uncertain significance Single submitter
- CDC6 p.Ile551Thr Uncertain significance Single submitter
- CDC6 p.Phe14Leu Uncertain significance Single submitter
- CDC6 p.Thr272Pro Uncertain significance Single submitter
- CDC6 p.Thr4Ala Uncertain significance Single submitter
- CDC6 p.Thr530Arg Uncertain significance Single submitter
- CDC6 p.Val282Leu Uncertain significance Single submitter
- CDC6 p.Val437Leu Uncertain significance Single submitter
All CDC6 variants
Conflicting classifications of pathogenicity 11
- c.1184+10G>A Single submitter Meier-Gorlin syndrome 5
- c.1185-5del Single submitter
- c.179-14T>C Single submitter Meier-Gorlin syndrome 5
- p.Arg214Trp Single submitter ⚠
- p.Cys146Arg Single submitter ⚠
- p.Leu267= Single submitter Meier-Gorlin syndrome 5
- p.Leu340= Single submitter Meier-Gorlin syndrome 5
- p.Thr238Ala Single submitter Meier-Gorlin syndrome 5 ⚠
- p.Thr299= Single submitter Meier-Gorlin syndrome 5
- p.Tyr199Ter Single submitter
- p.Val147Leu Single submitter ⚠
Benign 8
- c.1083+33T>A Multiple submitters
- p.Asp295Asn Multiple submitters Meier-Gorlin syndrome 5
- p.Cys146= Multiple submitters Meier-Gorlin syndrome 5
- p.Ser504= Multiple submitters Meier-Gorlin syndrome 5
- p.Thr299Met Multiple submitters Meier-Gorlin syndrome 5 ⚠
- p.Val441Ile Multiple submitters Meier-Gorlin syndrome 5
- c.1185-5dup Single submitter
- c.460+13A>C Single submitter
Benign/Likely benign 3
- c.661-5dup Multiple submitters
- c.836+16C>T Multiple submitters
- p.Pro55= Multiple submitters Meier-Gorlin syndrome 5
Likely benign 73
- c.1083+18T>G Multiple submitters
- c.1184+8A>G Multiple submitters
- c.661-14A>T Multiple submitters
- c.*653C>A Multiple submitters Meier-Gorlin syndrome 5
- p.Arg171= Multiple submitters
- p.Thr41= Multiple submitters
- p.Thr90= Multiple submitters
- c.1083+17T>C Single submitter
- c.1184+9C>T Single submitter
- c.1185-13A>G Single submitter
- c.1185-4A>G Single submitter
- c.1249+11T>A Single submitter
- c.1250-17G>C Single submitter
- c.1452+12T>C Single submitter
- c.1453-11T>C Single submitter
- c.1453-16C>T Single submitter
- c.1593+11T>C Single submitter
- c.1593+9G>A Single submitter
- c.1593+9G>T Single submitter
- c.1594-12del Single submitter
- c.178+10C>A Single submitter
- c.460+8C>T Single submitter
- c.461-19C>A Single submitter
- c.660+9A>G Single submitter
- c.661-20A>T Single submitter
- c.836+15G>A Single submitter
- c.836+17T>A Single submitter
- c.836+17T>G Single submitter
- c.836+7A>G Single submitter
- c.944-12T>C Single submitter
- c.944-15del Single submitter
- c.944-5C>T Single submitter
- c.*358G>T Single submitter Meier-Gorlin syndrome 5
- c.*733A>G Single submitter Meier-Gorlin syndrome 5
- p.Ala203= Single submitter
- p.Ala241= Single submitter
- p.Ala245= Single submitter
- p.Arg265= Single submitter
- p.Arg47= Single submitter
- p.Arg58= Single submitter
- p.Asn24= Single submitter
- p.Asn38= Single submitter
- p.Asn444= Single submitter
- p.Asn524= Single submitter
- p.Asp170= Single submitter
- p.Asp284= Single submitter
- p.Gln78= Single submitter
- p.Glu402= Single submitter
- p.Glu82= Single submitter
- p.Gly443= Single submitter
- p.Gly60= Single submitter
- p.Gly84= Single submitter
- p.His116= Single submitter
- p.His116Asp Single submitter
- p.Ile425Val Single submitter
- p.Leu231= Single submitter
- p.Leu306= Single submitter
- p.Leu327= Single submitter
- p.Leu355= Single submitter
- p.Leu448= Single submitter
- p.Lys114= Single submitter
- p.Lys141= Single submitter
- p.Lys546= Single submitter
- p.Pro2= Single submitter
- p.Ser456= Single submitter
- p.Thr323= Single submitter
- p.Thr527= Single submitter
- p.Tyr486= Single submitter
- p.Val352= Single submitter
- p.Val437= Single submitter
- p.Val498= Single submitter
- p.Val501= Single submitter
- p.Val532= Single submitter
Uncertain significance 161
- p.Arg21Gln Multiple submitters ⚠
- p.Arg21Trp Multiple submitters ⚠
- p.Arg325Ser Multiple submitters ⚠
- p.Arg378Cys Multiple submitters
- p.Arg378His Multiple submitters Meier-Gorlin syndrome 5
- p.Arg494Cys Multiple submitters ⚠
- p.Arg528His Multiple submitters ⚠
- p.Asn118Lys Multiple submitters ⚠
- p.Asp455Tyr Multiple submitters ⚠
- p.Asp61Asn Multiple submitters ⚠
- p.Gln496Leu Multiple submitters ⚠
- p.Gly154Val Multiple submitters ⚠
- p.Gly293Val Multiple submitters ⚠
- p.Leu223Gln Multiple submitters ⚠
- p.Leu289Val Multiple submitters ⚠
- p.Leu555Val Multiple submitters ⚠
- p.Lys25Thr Multiple submitters ⚠
- p.Lys531Glu Multiple submitters Meier-Gorlin syndrome 5 ⚠
- p.Met264Val Multiple submitters ⚠
- p.Ser54Asn Multiple submitters ⚠
- p.Tyr486His Multiple submitters ⚠
- p.Val280Ala Multiple submitters
- p.Val280Met Multiple submitters ⚠
- p.Val282Ala Multiple submitters Meier-Gorlin syndrome 5 ⚠
- c.1084-15A>G Single submitter Meier-Gorlin syndrome 5
- c.1185-3T>C Single submitter
- c.1249+1G>A Single submitter
- c.1249+6T>C Single submitter
- c.1593+6A>G Single submitter
- c.179-3C>T Single submitter
- c.660+5A>T Single submitter
- c.661-5T>C Single submitter
- c.943+4A>C Single submitter
- c.-14+8G>C Single submitter Meier-Gorlin syndrome 5
- c.-36T>G Single submitter Meier-Gorlin syndrome 5
- c.*181A>G Single submitter Meier-Gorlin syndrome 5
- c.*353T>G Single submitter Meier-Gorlin syndrome 5
- c.*414C>T Single submitter Meier-Gorlin syndrome 5
- c.*635G>T Single submitter Meier-Gorlin syndrome 5
- c.*747G>A Single submitter Meier-Gorlin syndrome 5
- c.*84G>A Single submitter Meier-Gorlin syndrome 5
- p.Ala195Gly Single submitter ⚠
- p.Ala245Pro Single submitter ⚠
- p.Ala259Asp Single submitter ⚠
- p.Ala273Thr Single submitter ⚠
- p.Ala317Gly Single submitter ⚠
- p.Ala317Thr Single submitter ⚠
- p.Ala382Gly Single submitter ⚠
- p.Ala390Val Single submitter
- p.Ala488Thr Single submitter ⚠
- p.Ala50Pro Single submitter ⚠
- p.Ala50Thr Single submitter ⚠
- p.Ala544Val Single submitter ⚠
- p.Arg171Trp Single submitter ⚠
- p.Arg187Ser Single submitter ⚠
- p.Arg214Gln Single submitter ⚠
- p.Arg358Ter Single submitter
- p.Arg378Gly Single submitter ⚠
- p.Arg378Pro Single submitter ⚠
- p.Arg388Cys Single submitter ⚠
- p.Arg428Ser Single submitter ⚠
- p.Arg47fs Single submitter
- p.Arg47His Single submitter ⚠
- p.Arg516Lys Single submitter ⚠
- p.Arg528Ser Single submitter ⚠
- p.Arg58Cys Single submitter ⚠
- p.Arg58His Single submitter ⚠
- p.Arg94Gln Single submitter ⚠
- p.Arg94Ter Single submitter
- p.Asn100Ser Single submitter ⚠
- p.Asn24Ser Single submitter ⚠
- p.Asn308Ser Single submitter ⚠
- p.Asn308Thr Single submitter ⚠
- p.Asn38Lys Single submitter ⚠
- p.Asn63Ser Single submitter ⚠
- p.Asp170Asn Single submitter Meier-Gorlin syndrome 5 ⚠
- p.Asp290His Single submitter
- p.Asp31Glu Single submitter ⚠
- p.Asp365Ala Single submitter ⚠
- p.Cys138Tyr Single submitter ⚠
- p.Cys191Ser Single submitter ⚠
- p.Cys417Arg Single submitter ⚠
- p.Cys466Tyr Single submitter ⚠
- p.Gln117Ter Single submitter
- p.Gln128Ter Single submitter
- p.Gln217Pro Single submitter ⚠
- p.Gln294Leu Single submitter
- p.Gln366Glu Single submitter ⚠
- p.Gln9Arg Single submitter ⚠
- p.Glu135Val Single submitter ⚠
- p.Glu153del Single submitter
- p.Glu249Gln Single submitter ⚠
- p.Glu249Gly Single submitter ⚠
- p.Glu505fs Single submitter
- p.Glu526Gly Single submitter ⚠
- p.Gly196Ala Single submitter ⚠
- p.Gly205Glu Single submitter ⚠
- p.Gly84Ser Single submitter ⚠
- p.His270Arg Single submitter ⚠
- p.His69Arg Single submitter microcephaly ⚠
- p.His89Arg Single submitter ⚠
- p.Ile182Val Single submitter ⚠
- p.Ile190Met Single submitter ⚠
- p.Ile229Val Single submitter ⚠
- p.Ile279= Single submitter
- p.Ile314Thr Single submitter ⚠
- p.Ile316Val Single submitter ⚠
- p.Ile398Thr Single submitter ⚠
- p.Ile398Val Single submitter ⚠
- p.Ile438Val Single submitter ⚠
- p.Ile518Val Single submitter ⚠
- p.Ile551Thr Single submitter ⚠
- p.Ile554Thr Single submitter ⚠
- p.Leu102Arg Single submitter ⚠
- p.Leu121Phe Single submitter ⚠
- p.Leu19Pro Single submitter ⚠
- p.Leu320Val Single submitter
- p.Leu91Val Single submitter ⚠
- p.Lys220Asn Single submitter ⚠
- p.Lys220Glu Single submitter ⚠
- p.Lys33Gln Single submitter ⚠
- p.Lys406Arg Single submitter ⚠
- p.Lys418Arg Single submitter ⚠
- p.Lys462Asn Single submitter ⚠
- p.Lys546Asn Single submitter ⚠
- p.Met179Thr Single submitter ⚠
- p.Met179Val Single submitter ⚠
- p.Met263Ile Single submitter ⚠
- p.Met263Val Single submitter ⚠
- p.Met271fs Single submitter
- p.Met271Val Single submitter ⚠
- p.Met446Leu Single submitter ⚠
- p.Phe14Leu Single submitter ⚠
- p.Phe150fs Single submitter
- p.Phe98Ser Single submitter ⚠
- p.Pro304Leu Single submitter ⚠
- p.Pro344fs Single submitter
- p.Pro36Thr Single submitter ⚠
- p.Pro420Ala Single submitter ⚠
- p.Pro46del Single submitter
- p.Pro52Leu Single submitter ⚠
- p.Pro72Leu Single submitter ⚠
- p.Pro72Thr Single submitter ⚠
- p.Ser134Ala Single submitter ⚠
- p.Ser235_Leu236insTer Single submitter
- p.Ser291Arg Single submitter ⚠
- p.Ser307fs Single submitter
- p.Ser504Leu Single submitter ⚠
- p.Thr155Ile Single submitter Meier-Gorlin syndrome 5 ⚠
- p.Thr272Pro Single submitter ⚠
- p.Thr409Asn Single submitter ⚠
- p.Thr409Ile Single submitter ⚠
- p.Thr43= Single submitter Meier-Gorlin syndrome 5
- p.Thr4Ala Single submitter ⚠
- p.Thr530Arg Single submitter ⚠
- p.Tyr298= Single submitter Meier-Gorlin syndrome 5
- p.Val163Phe Single submitter ⚠
- p.Val282Leu Single submitter ⚠
- p.Val401Leu Single submitter ⚠
- p.Val437Leu Single submitter ⚠
- p.Val465Ile Single submitter ⚠