Sugi Variant

Sugi Variant/WDR62

WDR62 — 1162 ClinVar variants

All ClinVar germline WDR62 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 473 flagged for review →

56 Pathogenic · 11 Pathogenic/Likely pathogenic · 66 Likely pathogenic · 104 Conflicting · 81 Benign · 22 Benign/Likely benign · 331 Likely benign · 491 Uncertain significance

Full WDR62 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 473

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 vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 48

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 362

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 362

Predictors split 61

The independent predictors disagree with each other — read with care.

All WDR62 variants

Pathogenic 56

  • c.2520+5G>T Multiple submitters WDR62-related disorder
  • p.Asp955fs Multiple submitters WDR62-related disorder
  • p.Cys647Ter Multiple submitters microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Gln1102Ter Multiple submitters
  • p.Gln918fs Multiple submitters microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Ser696fs Multiple submitters microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Thr1244fs Multiple submitters microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Val1313fs Multiple submitters microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • c.1550+5G>A Single submitter
  • c.1959_1960del Single submitter
  • c.2035-2A>G Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • c.2467+2T>G Single submitter
  • c.332+1G>A Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • c.390+1G>T Single submitter
  • p.Ala1157fs Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Ala37fs Single submitter
  • p.Arg1136Ter Single submitter
  • p.Arg1152fs Single submitter
  • p.Arg200fs Single submitter
  • p.Arg608fs Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Asn571fs Single submitter
  • p.Asp593fs Single submitter
  • p.Gln930Ter Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Gln970Ter Single submitter
  • p.Glu526Ter Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Glu536Ter Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Gly1042Ter Single submitter Inborn genetic diseases
  • p.Gly842fs Single submitter microcephaly
  • p.His84fs Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Ile561fs Single submitter
  • p.Ile68fs Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Leu401fs Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Pro1012fs Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Ser1105fs Single submitter
  • p.Ser1128fs Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Ser1410fs Single submitter
  • p.Ser268fs Single submitter
  • p.Ser698fs Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Ser704Ter Single submitter
  • p.Ser73fs Single submitter
  • p.Ser995Ter Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Trp1288Ter Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Trp186Ter Single submitter
  • p.Trp224fs Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Trp386Ter Single submitter
  • p.Trp440Ter Single submitter congenital nervous system disorder
  • p.Tyr885Ter Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Val214fs Single submitter
  • p.Asp122fs No assertion criteria microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Gln470Ter No assertion criteria microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Gly1280fs No assertion criteria microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Leu677Pro No assertion criteria Abnormality of neuronal migration
  • p.Ser1415fs No assertion criteria microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Trp224Ser No assertion criteria microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Val1402fs No assertion criteria microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Val65Met No assertion criteria microcephaly 2, primary, autosomal recessive, with or without cortical malformations

Pathogenic/Likely pathogenic 11

  • c.1234-1G>A Multiple submitters microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • c.177+1G>C Multiple submitters
  • c.3462+1G>A Multiple submitters microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • c.3462+1G>C Multiple submitters microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • c.3514+1G>A Multiple submitters microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Arg438His Multiple submitters microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Arg512Ter Multiple submitters microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Asp511Asn Multiple submitters Primary microcephaly type 2 ⚠
  • p.Gln1108Ter Multiple submitters microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Gln859Ter Multiple submitters Inborn genetic diseases
  • p.Glu799fs Multiple submitters microcephaly 2, primary, autosomal recessive, with or without cortical malformations

Likely pathogenic 66

  • c.2333+2T>C Multiple submitters
  • c.269+1G>T Multiple submitters microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Gln1449Ter Multiple submitters microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Gly862Ser Multiple submitters microcephaly 2, primary, autosomal recessive, with or without cortical malformations ⚠
  • p.His381Asn Multiple submitters WDR62-related disorder ⚠
  • p.Leu1412fs Multiple submitters microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Ser120Tyr Multiple submitters microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • c.1044-1G>T Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • c.1233+1del Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • c.1372-1G>T Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • c.1643-1G>A Single submitter
  • c.178-2A>G Single submitter WDR62-related disorder
  • c.1837-2A>G Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • c.1958+1G>A Single submitter WDR62-related disorder
  • c.2467+1G>T Single submitter WDR62-related disorder
  • c.270-15_287del Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • c.2740_2743del Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • c.2867+2_2867+3del Single submitter WDR62-related disorder
  • c.2971+1G>A Single submitter autosomal recessive primary microcephaly
  • c.3082+2T>C Single submitter
  • c.3335+3A>G Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • c.3462+1G>T Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • c.4312-1G>A Single submitter
  • c.882+1G>T Single submitter Skraban-Deardorff syndrome
  • p.Ala865fs Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Arg111Thr Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations ⚠
  • p.Cys260Arg Single submitter
  • p.Cys279Tyr Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations ⚠
  • p.Cys300fs Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Cys376Ter Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Gln1281Ter Single submitter WDR62-related disorder
  • p.Gln473Ter Single submitter WDR62-related disorder
  • p.Gln499Ter Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Gln754Ter Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Glu130= Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Glu531fs Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Glu871fs Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.His1422delinsValValTer Single submitter
  • p.His755fs Single submitter
  • p.Ile708fs Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Leu1389fs Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Leu1496fs Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Leu873fs Single submitter WDR62-related disorder
  • p.Lys294Ter Single submitter WDR62-related disorder
  • p.Phe1003fs Single submitter
  • p.Phe1117fs Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Pro1491fs Single submitter
  • p.Ser1237fs Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Ser405fs Single submitter
  • p.Ser509Leu Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations ⚠
  • p.Ser556Asn Single submitter
  • p.Thr215Pro Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Trp373Ter Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Trp398Ter Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Tyr725fs Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Val658fs Single submitter
  • c.1043+1G>C No assertion criteria WDR62-related disorder
  • c.883-4_890del No assertion criteria microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Ala1121fs No assertion criteria intellectual disability
  • p.Gly1138Ter No assertion criteria microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.His220Arg No assertion criteria microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.His562Asp No assertion criteria microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Leu278del No assertion criteria Abnormal cerebral morphology
  • p.Thr829Ile No assertion criteria microcephaly 2, primary, autosomal recessive, with or without cortical malformations ⚠
  • p.Tyr655fs No assertion criteria microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Val978fs No assertion criteria WDR62-related disorder

Conflicting classifications of pathogenicity 104

  • c.1043+3A>G Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • c.1233+5G>C Single submitter Inborn genetic diseases
  • c.1233+7C>G Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • c.1642+9G>A Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • c.1769-7C>T Single submitter
  • c.1837-12C>T Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • c.2211-4G>A Single submitter Inborn genetic diseases
  • c.2211-8C>T Single submitter
  • c.3221-13G>T Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • c.3336-5C>A Single submitter
  • c.3463-9T>C Single submitter
  • c.3515-7G>A Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • c.391-10C>T Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • c.4312-1G>C Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • c.699+11G>C Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • c.*5G>A Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Ala1020Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala1030Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala1179= Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Ala1179Val Single submitter Inborn genetic diseases ⚠
  • p.Ala1271Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala1336Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala1481Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala159= Single submitter Inborn genetic diseases
  • p.Ala329Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala493= Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Arg1136Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg1286His Single submitter Inborn genetic diseases ⚠
  • p.Arg1345Cys Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations ⚠
  • p.Arg1396His Single submitter Inborn genetic diseases ⚠
  • p.Arg1436His Single submitter Inborn genetic diseases ⚠
  • p.Arg1452Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg264Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg28Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg438Cys Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations ⚠
  • p.Arg496Gln Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations ⚠
  • p.Arg496Trp Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations ⚠
  • p.Arg557Trp Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations ⚠
  • p.Arg773Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg839Trp Single submitter Skraban-Deardorff syndrome ⚠
  • p.Arg922= Single submitter
  • p.Arg922His Single submitter Inborn genetic diseases ⚠
  • p.Asn101Lys Single submitter ⚠
  • p.Asn166Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn182= Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Asn453= Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Asn659= Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Asp141= Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Asp503= Single submitter
  • p.Asp843= Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Asp991Val Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations ⚠
  • p.Cys1029= Single submitter
  • p.Cys41Ser Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations ⚠
  • p.Gln1443= Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Glu526Lys Single submitter WDR62-related disorder ⚠
  • p.Glu53= Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Glu63Asp Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Gly1204= Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Gly1374= Single submitter
  • p.Gly1522Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly494Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly842Ala Single submitter ⚠
  • p.Gly966Arg Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations ⚠
  • p.His1025fs Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.His1091del Single submitter Inborn genetic diseases
  • p.His680= Single submitter
  • p.Ile190= Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Ile308Val Single submitter Inborn genetic diseases ⚠
  • p.Ile68Thr Single submitter Inborn genetic diseases ⚠
  • p.Leu1245= Single submitter
  • p.Leu1245Met Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations ⚠
  • p.Leu1387Ile Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations ⚠
  • p.Leu1432= Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Leu1438Met Single submitter Inborn genetic diseases ⚠
  • p.Leu328= Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Leu507= Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Lys664del Single submitter intellectual disability
  • p.Met889Thr Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations ⚠
  • p.Pro1054= Single submitter
  • p.Pro1488= Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Pro794Arg Single submitter ⚠
  • p.Ser1186= Single submitter
  • p.Ser1253Leu Single submitter ⚠
  • p.Ser244Leu Single submitter ⚠
  • p.Ser275Leu Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations ⚠
  • p.Ser52= Single submitter
  • p.Ser614= Single submitter
  • p.Ser669= Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Ser992= Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Thr1021= Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Thr1101= Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Thr1214Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr1270= Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Thr1492Met Single submitter Inborn genetic diseases ⚠
  • p.Tyr1147Cys Single submitter ⚠
  • p.Tyr175= Single submitter
  • p.Tyr274Asp Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations ⚠
  • p.Tyr655Asn Single submitter Inborn genetic diseases ⚠
  • p.Val1045Ile Single submitter Inborn genetic diseases ⚠
  • p.Val1083Leu Single submitter Inborn genetic diseases ⚠
  • p.Val1255Ile Single submitter ⚠
  • p.Val410Leu Single submitter microcephaly 2, primary, autosomal recessive, with or without cortical malformations ⚠
  • p.Val4Leu Single submitter Inborn genetic diseases ⚠
  • p.Val85Met Single submitter Inborn genetic diseases ⚠

Benign 81

Benign/Likely benign 22

  • c.1233+11C>A Multiple submitters microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • c.1233+15del Multiple submitters
  • c.1233+15dup Multiple submitters
  • c.1768+17C>T Multiple submitters
  • c.1959-20A>G Multiple submitters microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • c.269+19C>T Multiple submitters microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • c.2739+17C>A Multiple submitters microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • c.4312-5T>G Multiple submitters microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • c.699+16T>C Multiple submitters microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Ala1271Val Multiple submitters Inborn genetic diseases
  • p.Ala997= Multiple submitters microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Asn409Asp Multiple submitters microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Asp672= Multiple submitters microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Gln1316Glu Multiple submitters microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Gly1262= Multiple submitters microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Gly248= Multiple submitters microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Leu48Phe Multiple submitters microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Lys289Arg Multiple submitters microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Phe478Leu Multiple submitters
  • p.Ser704= Multiple submitters microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Ser992Leu Multiple submitters microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • p.Thr1446= Multiple submitters microcephaly 2, primary, autosomal recessive, with or without cortical malformations

Likely benign 331

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 491

Showing the top 300 by review status; the full set is in the sitemap.