ZIC2 — 478 ClinVar variants
All ClinVar germline ZIC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 205 flagged for review →
32 Pathogenic · 23 Likely pathogenic · 8 Conflicting · 15 Benign · 5 Benign/Likely benign · 147 Likely benign · 248 Uncertain significance
Full ZIC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 205
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.
-
ZIC2 p.His166Gln
Conflicting
Single submitter
Inborn genetic diseases
-
ZIC2 p.Met412Val
Conflicting
Single submitter
Inborn genetic diseases
-
ZIC2 p.Ser267Asn
Conflicting
Single submitter
holoprosencephaly 5
-
ZIC2 p.Tyr318Cys
Conflicting
Single submitter
ZIC2-related disorder
Predictors lean, ClinVar uncertain 135
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ZIC2 p.Arg346Leu
Uncertain significance
Multiple submitters
holoprosencephaly 5
-
ZIC2 p.Asn376Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ZIC2 p.Glu305Val
Uncertain significance
Multiple submitters
holoprosencephaly 5
-
ZIC2 p.Gly155Ser
Uncertain significance
Multiple submitters
holoprosencephaly 5
-
ZIC2 p.Gly481Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ZIC2 p.Gly499Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ZIC2 p.His475Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ZIC2 p.Ile252Val
Uncertain significance
Multiple submitters
holoprosencephaly 5
-
ZIC2 p.Ile261Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ZIC2 p.Pro112Ser
Uncertain significance
Multiple submitters
holoprosencephaly 5
-
ZIC2 p.Pro163Ala
Uncertain significance
Multiple submitters
holoprosencephaly 5
-
ZIC2 p.Pro437Leu
Uncertain significance
Multiple submitters
holoprosencephaly 5
-
ZIC2 p.Ser454Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ZIC2 p.Ala130Glu Uncertain significance Single submitter
-
ZIC2 p.Ala149Gly
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Ala153Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ZIC2 p.Ala18Gly
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Ala18Pro
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Ala27Val
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Ala31Val
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Ala428Pro
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Ala428Ser
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Ala428Thr
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Ala44Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ZIC2 p.Ala473Thr
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Ala485Val
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Ala53Pro
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Ala5Val
Uncertain significance
Single submitter
holoprosencephaly 5
- ZIC2 p.Ala66Thr Uncertain significance Single submitter
-
ZIC2 p.Ala84Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ZIC2 p.Ala89Pro
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Arg346Cys
Uncertain significance
Single submitter
holoprosencephaly 5
- ZIC2 p.Arg372Pro Uncertain significance Single submitter
- ZIC2 p.Arg372Trp Uncertain significance Single submitter
-
ZIC2 p.Arg38Gly
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Asn224Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ZIC2 p.Asn274His
Uncertain significance
Single submitter
ZIC2-related disorder
-
ZIC2 p.Asp37Asn
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Cys340Ser
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Gln36Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
ZIC2 p.Gln448Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- ZIC2 p.Gln46Arg Uncertain significance Single submitter
-
ZIC2 p.Glu368Val
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Glu446Asp
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Gly132Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ZIC2 p.Gly145Ser
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Gly15Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ZIC2 p.Gly185Ser
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Gly311Ser
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Gly339Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ZIC2 p.Gly477Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ZIC2 p.Gly479Ser
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Gly484Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- ZIC2 p.Gly484Val Uncertain significance Single submitter
-
ZIC2 p.Gly48Ala
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Gly48Asp
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Gly492Ser
Uncertain significance
Single submitter
holoprosencephaly 5
- ZIC2 p.Gly496Val Uncertain significance Single submitter
-
ZIC2 p.Gly497Ala
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Gly512Ala
Uncertain significance
Single submitter
holoprosencephaly 5
- ZIC2 p.Gly513Val Uncertain significance Single submitter
-
ZIC2 p.Gly515Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ZIC2 p.Gly518Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ZIC2 p.Gly519Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ZIC2 p.Gly519Val
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Gly87Asp
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Gly87Ser
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.His101Gln
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.His101Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
ZIC2 p.His150Gln
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.His169Gln
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.His169Leu
Uncertain significance
Single submitter
holoprosencephaly 5
- ZIC2 p.His238Tyr Uncertain significance Single submitter
-
ZIC2 p.His281Tyr
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.His286Tyr
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.His327Arg
Uncertain significance
Single submitter
holoprosencephaly 5
- ZIC2 p.His383Arg Uncertain significance Single submitter
-
ZIC2 p.His520Asp
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.His520Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ZIC2 p.His56Pro
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.His67Tyr
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Ile324Met
Uncertain significance
Single submitter
Inborn genetic diseases
- ZIC2 p.Leu146Pro Uncertain significance Single submitter
- ZIC2 p.Leu157Ile Uncertain significance Single submitter
-
ZIC2 p.Leu158Phe
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Leu183Met
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Lys270Arg
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Lys275Arg
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Lys275Asn
Uncertain significance
Single submitter
holoprosencephaly 5
- ZIC2 p.Lys319Gln Uncertain significance Single submitter
- ZIC2 p.Lys351Gln Uncertain significance Single submitter
-
ZIC2 p.Lys351Glu
Uncertain significance
Single submitter
holoprosencephaly 5
- ZIC2 p.Lys413Asn Uncertain significance Single submitter
-
ZIC2 p.Met223Val
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Met225Val
Uncertain significance
Single submitter
holoprosencephaly 5
- ZIC2 p.Phe344Leu Uncertain significance Single submitter
-
ZIC2 p.Pro100Ser
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Pro131Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ZIC2 p.Pro184Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ZIC2 p.Pro308Leu
Uncertain significance
Single submitter
holoprosencephaly 5
- ZIC2 p.Pro332His Uncertain significance Single submitter
-
ZIC2 p.Pro338Ser
Uncertain significance
Single submitter
holoprosencephaly 5
- ZIC2 p.Pro362Arg Uncertain significance Single submitter
-
ZIC2 p.Pro419Thr
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Pro426Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ZIC2 p.Pro437Thr Uncertain significance Single submitter
-
ZIC2 p.Pro443Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ZIC2 p.Pro64Ser
Uncertain significance
Single submitter
holoprosencephaly 5
- ZIC2 p.Pro71Ser Uncertain significance Single submitter
-
ZIC2 p.Pro86Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ZIC2 p.Ser129Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ZIC2 p.Ser151Ala
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Ser16Asn
Uncertain significance
Single submitter
ZIC2-related disorder
- ZIC2 p.Ser434Trp Uncertain significance Single submitter
-
ZIC2 p.Ser444Asn
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Ser444Gly
Uncertain significance
Single submitter
holoprosencephaly 5
- ZIC2 p.Ser449Asn Uncertain significance Single submitter
-
ZIC2 p.Ser480Leu
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Ser482Asn
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Ser509Gly
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Ser514Asn
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Ser525Thr
Uncertain significance
Single submitter
holoprosencephaly 5
- ZIC2 p.Ser70Pro Uncertain significance Single submitter
-
ZIC2 p.Ser75Pro
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Thr279Ile
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Thr285Ser
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Thr328Ile
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Thr328Lys
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Thr358Lys
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Thr78Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ZIC2 p.Tyr108Phe Uncertain significance Single submitter
-
ZIC2 p.Val14Ala
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Val14Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ZIC2 p.Val187Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
ZIC2 p.Val326Leu
Uncertain significance
No assertion criteria
ZIC2-related disorder
Predictors split 66
The independent predictors disagree with each other — read with care.
-
ZIC2 p.Ala228Gly
Uncertain significance
Multiple submitters
holoprosencephaly 5
-
ZIC2 p.Ala26Gly
Uncertain significance
Multiple submitters
holoprosencephaly 5
-
ZIC2 p.Arg180Cys
Uncertain significance
Multiple submitters
holoprosencephaly 5
-
ZIC2 p.Gly478Arg
Uncertain significance
Multiple submitters
holoprosencephaly 5
-
ZIC2 p.Gly484Cys
Uncertain significance
Multiple submitters
holoprosencephaly 5
-
ZIC2 p.Gly492Cys
Uncertain significance
Multiple submitters
holoprosencephaly 5
-
ZIC2 p.Gly501Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ZIC2 p.Lys270Asn
Uncertain significance
Multiple submitters
holoprosencephaly 5
-
ZIC2 p.Met247Val
Uncertain significance
Multiple submitters
holoprosencephaly 5
- ZIC2 p.Met57Ile Uncertain significance Multiple submitters
-
ZIC2 p.Phe49Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ZIC2 p.Pro419Arg
Uncertain significance
Multiple submitters
holoprosencephaly 5
-
ZIC2 p.Ser521Arg
Uncertain significance
Multiple submitters
holoprosencephaly 5
-
ZIC2 p.Ala227Thr
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Ala229Thr
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Ala28Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ZIC2 p.Ala28Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ZIC2 p.Ala29Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ZIC2 p.Ala30Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ZIC2 p.Ala30Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ZIC2 p.Ala31Asp
Uncertain significance
Single submitter
ZIC2-related disorder
-
ZIC2 p.Ala59Asp
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Arg122His
Uncertain significance
Single submitter
Inborn genetic diseases
- ZIC2 p.Arg190Leu Uncertain significance Single submitter
-
ZIC2 p.Arg195Cys
Uncertain significance
Single submitter
holoprosencephaly 5
- ZIC2 p.Asn176Asp Uncertain significance Single submitter
- ZIC2 p.Asn176Tyr Uncertain significance Single submitter
- ZIC2 p.Asp379Glu Uncertain significance Single submitter
-
ZIC2 p.Asp390Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ZIC2 p.Glu366Lys
Uncertain significance
Single submitter
holoprosencephaly 5
- ZIC2 p.Gly127Arg Uncertain significance Single submitter
- ZIC2 p.Gly127Trp Uncertain significance Single submitter
- ZIC2 p.Gly13Arg Uncertain significance Single submitter
-
ZIC2 p.Gly140Arg
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Gly161Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ZIC2 p.Gly185Asp
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Gly431Val
Uncertain significance
Single submitter
holoprosencephaly 5
- ZIC2 p.Gly487Arg Uncertain significance Single submitter
-
ZIC2 p.Gly497Glu
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Gly503Cys
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Gly506Asp
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Gly508Asp
Uncertain significance
Single submitter
holoprosencephaly 5
- ZIC2 p.Gly513Cys Uncertain significance Single submitter
- ZIC2 p.Gly6Cys Uncertain significance Single submitter
-
ZIC2 p.His21Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- ZIC2 p.His235Gln Uncertain significance Single submitter
-
ZIC2 p.His236Arg
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.His239Pro
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Leu266Pro
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Leu283Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ZIC2 p.Lys315Arg Uncertain significance Single submitter
-
ZIC2 p.Met384Thr
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Phe121Leu
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Phe126Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- ZIC2 p.Phe139Leu Uncertain significance Single submitter
-
ZIC2 p.Phe244Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ZIC2 p.Phe60Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ZIC2 p.Phe77Leu
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Pro313Ser
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Pro419Leu
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Pro426Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- ZIC2 p.Ser109Phe Uncertain significance Single submitter
-
ZIC2 p.Ser444Arg
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Thr436Met
Uncertain significance
Single submitter
holoprosencephaly 5
-
ZIC2 p.Tyr214Asn
Uncertain significance
Single submitter
holoprosencephaly 5
- ZIC2 p.Val532Ala Uncertain significance Single submitter
All ZIC2 variants
Pathogenic 32
- p.Cys365_Glu366delinsTer Multiple submitters holoprosencephaly 5
- c.1076-2A>T Single submitter holoprosencephaly 5
- c.1148_1464del Single submitter holoprosencephaly 5
- p.Ala242fs Single submitter
- p.Ala29fs Single submitter Inborn genetic diseases
- p.Arg325Cys Single submitter holoprosencephaly 5
- p.Cys258Tyr Single submitter holoprosencephaly 5
- p.Cys395fs Single submitter congenital nervous system disorder
- p.Gln213Ter Single submitter
- p.Gln265Ter Single submitter holoprosencephaly 5
- p.Gln36Ter Single submitter
- p.Glu366fs Single submitter holoprosencephaly 5
- p.Gly241fs Single submitter holoprosencephaly 5
- p.His166fs Single submitter
- p.His286Gln Single submitter
- p.Lys400_Tyr402del Single submitter holoprosencephaly 5
- p.Met217fs Single submitter holoprosencephaly 5
- p.Phe367fs Single submitter
- p.Phe77fs Single submitter holoprosencephaly 5
- p.Pro362fs Single submitter holoprosencephaly 5
- p.Ser151Ter Single submitter holoprosencephaly 5
- p.Ser406fs Single submitter holoprosencephaly 5
- p.Trp304Ter Single submitter holoprosencephaly 5
- p.Tyr108fs Single submitter holoprosencephaly 5
- p.Val386fs Single submitter holoprosencephaly 5
- c.177_178ins56 No assertion criteria holoprosencephaly 5
- p.Gln364fs No assertion criteria holoprosencephaly 5
- p.Glu348fs No assertion criteria holoprosencephaly 5
- p.Gly133fs No assertion criteria holoprosencephaly 5
- p.His286fs No assertion criteria holoprosencephaly 5
- p.Leu440fs No assertion criteria holoprosencephaly 5
- p.Lys312fs No assertion criteria holoprosencephaly 5
Likely pathogenic 23
- p.Pro405fs Multiple submitters holoprosencephaly 5
- c.1240-2A>T Single submitter
- p.Arg325His Single submitter ZIC2-related disorder
- p.Arg325Ser Single submitter
- p.Arg346Pro Single submitter ZIC2-related disorder
- p.Arg409Pro Single submitter
- p.Arg409Trp Single submitter holoprosencephaly
- p.Cys251Ter Single submitter ZIC2-related disorder
- p.Cys335fs Single submitter holoprosencephaly 5
- p.Gln165fs Single submitter holoprosencephaly 5
- p.Gln8Ter Single submitter
- p.Gly341fs Single submitter holoprosencephaly 5
- p.Gly503fs Single submitter Inborn genetic diseases
- p.His323Arg Single submitter
- p.His323Tyr Single submitter ZIC2-related disorder
- p.His357Gln Single submitter holoprosencephaly 5
- p.His415Arg Single submitter Fetal anomalies with a likely genetic cause
- p.His415fs Single submitter holoprosencephaly 5
- p.Ile352fs Single submitter holoprosencephaly 5
- p.Lys400_Tyr402delinsAsn Single submitter holoprosencephaly 5
- p.Lys410_His411del Single submitter holoprosencephaly 5
- p.Asp128fs No assertion criteria holoprosencephaly 5
- p.His415Gln No assertion criteria holoprosencephaly 5
Conflicting classifications of pathogenicity 8
- c.1239+6A>G Single submitter holoprosencephaly 5
- p.Ala33_Glu34insAla Single submitter holoprosencephaly 5
- p.Gly501_Gly508del Single submitter holoprosencephaly 5
- p.His166Gln Single submitter Inborn genetic diseases ⚠
- p.His238_His239dup Single submitter holoprosencephaly 5
- p.Met412Val Single submitter Inborn genetic diseases ⚠
- p.Ser267Asn Single submitter holoprosencephaly 5 ⚠
- p.Tyr318Cys Single submitter ZIC2-related disorder ⚠
Benign 15
- c.1076-98T>C Multiple submitters
- c.1239+18G>A Multiple submitters holoprosencephaly 5
- c.*257A>T Multiple submitters
- c.*315T>G Multiple submitters
- p.His353= Multiple submitters holoprosencephaly 5
- p.Pro71= Multiple submitters holoprosencephaly 5
- p.Ser442= Multiple submitters holoprosencephaly 5
- c.1075+213G>A Single submitter
- c.1240-10T>G Single submitter holoprosencephaly 5
- c.*168_*170dup Single submitter
- c.*169_*170dup Single submitter
- c.*170dup Single submitter
- p.Ala427= Single submitter holoprosencephaly 5
- p.Pro438= Single submitter holoprosencephaly 5
- p.Val343= Single submitter
Benign/Likely benign 5
- p.Asn176= Multiple submitters holoprosencephaly 5
- p.Gly182= Multiple submitters holoprosencephaly 5
- p.Gly518= Multiple submitters holoprosencephaly 5
- p.His239del Multiple submitters holoprosencephaly 5
- p.His239dup Multiple submitters holoprosencephaly 5
Likely benign 147
- c.1240-96A>G Multiple submitters
- p.Ala153= Multiple submitters holoprosencephaly 5
- p.Ala18= Multiple submitters holoprosencephaly 5
- p.Ala94= Multiple submitters holoprosencephaly 5
- p.Arg309= Multiple submitters holoprosencephaly 5
- p.Gln209= Multiple submitters holoprosencephaly 5
- p.Gly140= Multiple submitters holoprosencephaly 5
- p.Gly498= Multiple submitters holoprosencephaly 5
- p.Gly499= Multiple submitters holoprosencephaly 5
- p.Gly507= Multiple submitters holoprosencephaly 5
- p.Gly65= Multiple submitters holoprosencephaly 5
- p.His166Arg Multiple submitters holoprosencephaly 5
- p.Ile257= Multiple submitters holoprosencephaly 5
- p.Leu181= Multiple submitters holoprosencephaly 5
- p.Pro163= Multiple submitters holoprosencephaly 5
- p.Pro184= Multiple submitters holoprosencephaly 5
- p.Pro295= Multiple submitters holoprosencephaly 5
- p.Ser430= Multiple submitters holoprosencephaly 5
- p.Ser449= Multiple submitters holoprosencephaly 5
- c.1075+15G>A Single submitter holoprosencephaly 5
- c.1075+18C>T Single submitter holoprosencephaly 5
- c.1076-17A>G Single submitter holoprosencephaly 5
- c.1076-18G>A Single submitter holoprosencephaly 5
- c.1076-18G>T Single submitter holoprosencephaly 5
- c.1076-19C>T Single submitter holoprosencephaly 5
- c.1076-8G>A Single submitter holoprosencephaly 5
- c.1239+11G>C Single submitter holoprosencephaly 5
- c.1239+12G>A Single submitter holoprosencephaly 5
- c.1239+7C>T Single submitter holoprosencephaly 5
- c.1239+8C>T Single submitter
- c.1239+9G>A Single submitter holoprosencephaly 5
- c.1239+9G>T Single submitter holoprosencephaly 5
- c.1240-10T>C Single submitter holoprosencephaly 5
- c.1240-11T>C Single submitter holoprosencephaly 5
- c.*166_*170dup Single submitter
- p.Ala207Thr Single submitter Inborn genetic diseases
- p.Ala229= Single submitter holoprosencephaly 5
- p.Ala26= Single submitter holoprosencephaly 5
- p.Ala33= Single submitter holoprosencephaly 5
- p.Ala33del Single submitter
- p.Ala44= Single submitter holoprosencephaly 5
- p.Ala445= Single submitter holoprosencephaly 5
- p.Ala473= Single submitter holoprosencephaly 5
- p.Ala502= Single submitter holoprosencephaly 5
- p.Ala91= Single submitter holoprosencephaly 5
- p.Ala92= Single submitter holoprosencephaly 5
- p.Ala95= Single submitter holoprosencephaly 5
- p.Arg19= Single submitter holoprosencephaly 5
- p.Arg201= Single submitter holoprosencephaly 5
- p.Arg248= Single submitter holoprosencephaly 5
- p.Arg373= Single submitter holoprosencephaly 5
- p.Arg409= Single submitter holoprosencephaly 5
- p.Asn220= Single submitter holoprosencephaly 5
- p.Asn268= Single submitter holoprosencephaly 5
- p.Asn452= Single submitter holoprosencephaly 5
- p.Asp152= Single submitter holoprosencephaly 5
- p.Asp37= Single submitter holoprosencephaly 5
- p.Cys370= Single submitter holoprosencephaly 5
- p.Gln172= Single submitter holoprosencephaly 5
- p.Gln254= Single submitter holoprosencephaly 5
- p.Gln265= Single submitter holoprosencephaly 5
- p.Gln36Glu Single submitter holoprosencephaly 5
- p.Glu34= Single submitter holoprosencephaly 5
- p.Glu368= Single submitter holoprosencephaly 5
- p.Glu529= Single submitter holoprosencephaly 5
- p.Gly110= Single submitter holoprosencephaly 5
- p.Gly125= Single submitter
- p.Gly13= Single submitter
- p.Gly133= Single submitter holoprosencephaly 5
- p.Gly144= Single submitter holoprosencephaly 5
- p.Gly155= Single submitter holoprosencephaly 5
- p.Gly185= Single submitter holoprosencephaly 5
- p.Gly293= Single submitter holoprosencephaly 5
- p.Gly479= Single submitter holoprosencephaly 5
- p.Gly48= Single submitter holoprosencephaly 5
- p.Gly483= Single submitter holoprosencephaly 5
- p.Gly500= Single submitter holoprosencephaly 5
- p.Gly511= Single submitter holoprosencephaly 5
- p.Gly512= Single submitter holoprosencephaly 5
- p.Gly522= Single submitter holoprosencephaly 5
- p.Gly87= Single submitter holoprosencephaly 5
- p.Gly99= Single submitter holoprosencephaly 5
- p.His147= Single submitter holoprosencephaly 5
- p.His150= Single submitter holoprosencephaly 5
- p.His169= Single submitter holoprosencephaly 5
- p.His237= Single submitter holoprosencephaly 5
- p.Ile324= Single submitter holoprosencephaly 5
- p.Leu120= Single submitter holoprosencephaly 5
- p.Leu138= Single submitter holoprosencephaly 5
- p.Leu146= Single submitter
- p.Leu158= Single submitter holoprosencephaly 5
- p.Leu175= Single submitter holoprosencephaly 5
- p.Leu2= Single submitter holoprosencephaly 5
- p.Leu350= Single submitter holoprosencephaly 5
- p.Leu440= Single submitter holoprosencephaly 5
- p.Lys270= Single submitter holoprosencephaly 5
- p.Lys271= Single submitter holoprosencephaly 5
- p.Lys319= Single submitter holoprosencephaly 5
- p.Lys382= Single submitter holoprosencephaly 5
- p.Phe17= Single submitter holoprosencephaly 5
- p.Phe374= Single submitter holoprosencephaly 5
- p.Phe9= Single submitter holoprosencephaly 5
- p.Pro10= Single submitter holoprosencephaly 5
- p.Pro100= Single submitter holoprosencephaly 5
- p.Pro112= Single submitter holoprosencephaly 5
- p.Pro131= Single submitter holoprosencephaly 5
- p.Pro160= Single submitter holoprosencephaly 5
- p.Pro216= Single submitter
- p.Pro362= Single submitter holoprosencephaly 5
- p.Pro419= Single submitter holoprosencephaly 5
- p.Pro443= Single submitter holoprosencephaly 5
- p.Pro64= Single submitter holoprosencephaly 5
- p.Ser272= Single submitter holoprosencephaly 5
- p.Ser347= Single submitter holoprosencephaly 5
- p.Ser389= Single submitter holoprosencephaly 5
- p.Ser401= Single submitter holoprosencephaly 5
- p.Ser407= Single submitter holoprosencephaly 5
- p.Ser417= Single submitter holoprosencephaly 5
- p.Ser434= Single submitter holoprosencephaly 5
- p.Ser435fs Single submitter
- p.Ser454= Single submitter holoprosencephaly 5
- p.Ser493= Single submitter holoprosencephaly 5
- p.Ser521= Single submitter holoprosencephaly 5
- p.Ser524= Single submitter holoprosencephaly 5
- p.Ser70= Single submitter holoprosencephaly 5
- p.Ser75= Single submitter holoprosencephaly 5
- p.Thr116= Single submitter holoprosencephaly 5
- p.Thr202= Single submitter holoprosencephaly 5
- p.Thr285= Single submitter holoprosencephaly 5
- p.Thr356= Single submitter holoprosencephaly 5
- p.Thr388= Single submitter holoprosencephaly 5
- p.Thr403= Single submitter holoprosencephaly 5
- p.Thr436= Single submitter holoprosencephaly 5
- p.Thr436fs Single submitter
- p.Tyr205= Single submitter holoprosencephaly 5
- p.Tyr214= Single submitter holoprosencephaly 5
- p.Tyr402fs Single submitter holoprosencephaly 5
- p.Val14= Single submitter holoprosencephaly 5
- p.Val174= Single submitter holoprosencephaly 5
- p.Val292= Single submitter holoprosencephaly 5
- p.Val386= Single submitter
- p.Val471= Single submitter holoprosencephaly 5
- p.Ala93= No assertion criteria ZIC2-related disorder
- p.Gly421= No assertion criteria ZIC2-related disorder
- p.Leu210= No assertion criteria ZIC2-related disorder
- p.Phe139= No assertion criteria ZIC2-related disorder
- p.Tyr531= No assertion criteria ZIC2-related disorder
Uncertain significance 248
- p.Ala228Gly Multiple submitters holoprosencephaly 5 ⚠
- p.Ala26Gly Multiple submitters holoprosencephaly 5 ⚠
- p.Ala502_Gly505del Multiple submitters holoprosencephaly 5
- p.Ala84_Tyr85insCysProGlyAla Multiple submitters holoprosencephaly 5
- p.Arg180Cys Multiple submitters holoprosencephaly 5 ⚠
- p.Arg346Leu Multiple submitters holoprosencephaly 5 ⚠
- p.Asn376Ser Multiple submitters Inborn genetic diseases ⚠
- p.Glu305Val Multiple submitters holoprosencephaly 5 ⚠
- p.Gly155Ser Multiple submitters holoprosencephaly 5 ⚠
- p.Gly222_Met225del Multiple submitters holoprosencephaly 5
- p.Gly478Arg Multiple submitters holoprosencephaly 5 ⚠
- p.Gly481Val Multiple submitters Inborn genetic diseases ⚠
- p.Gly484Cys Multiple submitters holoprosencephaly 5 ⚠
- p.Gly486Glu Multiple submitters Inborn genetic diseases
- p.Gly492Cys Multiple submitters holoprosencephaly 5 ⚠
- p.Gly494_Ser509del Multiple submitters holoprosencephaly 5
- p.Gly499Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly501Arg Multiple submitters Inborn genetic diseases ⚠
- p.His236_His239del Multiple submitters holoprosencephaly 5
- p.His237_His239dup Multiple submitters holoprosencephaly 5
- p.His238_His239del Multiple submitters holoprosencephaly 5
- p.His475Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ile252Val Multiple submitters holoprosencephaly 5 ⚠
- p.Ile261Met Multiple submitters Inborn genetic diseases ⚠
- p.Lys270Asn Multiple submitters holoprosencephaly 5 ⚠
- p.Met247Val Multiple submitters holoprosencephaly 5 ⚠
- p.Met57Ile Multiple submitters ⚠
- p.Phe49Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro112Ser Multiple submitters holoprosencephaly 5 ⚠
- p.Pro163Ala Multiple submitters holoprosencephaly 5 ⚠
- p.Pro240del Multiple submitters holoprosencephaly 5
- p.Pro419Arg Multiple submitters holoprosencephaly 5 ⚠
- p.Pro437Leu Multiple submitters holoprosencephaly 5 ⚠
- p.Ser454Phe Multiple submitters Inborn genetic diseases ⚠
- p.Ser521Arg Multiple submitters holoprosencephaly 5 ⚠
- c.1076-5C>T Single submitter
- c.1239+12_1239+13delinsAT Single submitter holoprosencephaly 5
- c.-19G>C Single submitter
- c.*954T>A Single submitter holoprosencephaly 1
- p.Ala130Glu Single submitter ⚠
- p.Ala149Gly Single submitter holoprosencephaly 5 ⚠
- p.Ala153Thr Single submitter Inborn genetic diseases ⚠
- p.Ala18Gly Single submitter holoprosencephaly 5 ⚠
- p.Ala18Pro Single submitter holoprosencephaly 5 ⚠
- p.Ala227Thr Single submitter holoprosencephaly 5 ⚠
- p.Ala229Thr Single submitter holoprosencephaly 5 ⚠
- p.Ala27Val Single submitter holoprosencephaly 5 ⚠
- p.Ala28_Ala29insGlyGly Single submitter Inborn genetic diseases
- p.Ala28_Ala29insGlyGlyGly Single submitter Inborn genetic diseases
- p.Ala28Gly Single submitter Inborn genetic diseases ⚠
- p.Ala28Thr Single submitter Inborn genetic diseases ⚠
- p.Ala29Gly Single submitter Inborn genetic diseases ⚠
- p.Ala30Glu Single submitter Inborn genetic diseases ⚠
- p.Ala30Thr Single submitter Inborn genetic diseases ⚠
- p.Ala31_Ala33del Single submitter holoprosencephaly 5
- p.Ala31Asp Single submitter ZIC2-related disorder ⚠
- p.Ala31Val Single submitter holoprosencephaly 5 ⚠
- p.Ala33_Glu34insAlaAla Single submitter holoprosencephaly 5
- p.Ala428Pro Single submitter holoprosencephaly 5 ⚠
- p.Ala428Ser Single submitter holoprosencephaly 5 ⚠
- p.Ala428Thr Single submitter holoprosencephaly 5 ⚠
- p.Ala44Thr Single submitter Inborn genetic diseases ⚠
- p.Ala470_Val471insAlaAla Single submitter holoprosencephaly 5
- p.Ala470_Val471insAlaAlaAlaAla Single submitter holoprosencephaly 5
- p.Ala473Thr Single submitter holoprosencephaly 5 ⚠
- p.Ala485Val Single submitter holoprosencephaly 5 ⚠
- p.Ala502_Gly505dup Single submitter holoprosencephaly 5
- p.Ala53Pro Single submitter holoprosencephaly 5 ⚠
- p.Ala59Asp Single submitter holoprosencephaly 5 ⚠
- p.Ala5Val Single submitter holoprosencephaly 5 ⚠
- p.Ala66Thr Single submitter ⚠
- p.Ala84Asp Single submitter Inborn genetic diseases ⚠
- p.Ala89Pro Single submitter holoprosencephaly 5 ⚠
- p.Ala94_Ala97del Single submitter holoprosencephaly 5
- p.Arg122His Single submitter Inborn genetic diseases ⚠
- p.Arg190Leu Single submitter ⚠
- p.Arg195Cys Single submitter holoprosencephaly 5 ⚠
- p.Arg346Cys Single submitter holoprosencephaly 5 ⚠
- p.Arg372Pro Single submitter ⚠
- p.Arg372Trp Single submitter ⚠
- p.Arg38Gly Single submitter holoprosencephaly 5 ⚠
- p.Asn176Asp Single submitter ⚠
- p.Asn176Tyr Single submitter ⚠
- p.Asn224Ser Single submitter Inborn genetic diseases ⚠
- p.Asn274His Single submitter ZIC2-related disorder ⚠
- p.Asp379Glu Single submitter ⚠
- p.Asp37Asn Single submitter holoprosencephaly 5 ⚠
- p.Asp390Asn Single submitter Inborn genetic diseases ⚠
- p.Cys340Ser Single submitter holoprosencephaly 5 ⚠
- p.Gln36Pro Single submitter Inborn genetic diseases ⚠
- p.Gln420Lys Single submitter holoprosencephaly 5
- p.Gln448Arg Single submitter Inborn genetic diseases ⚠
- p.Gln46Arg Single submitter ⚠
- p.Glu366Lys Single submitter holoprosencephaly 5 ⚠
- p.Glu368Val Single submitter holoprosencephaly 5 ⚠
- p.Glu446Asp Single submitter holoprosencephaly 5 ⚠
- p.Gly127Arg Single submitter ⚠
- p.Gly127Trp Single submitter ⚠
- p.Gly132Asp Single submitter Inborn genetic diseases ⚠
- p.Gly13Arg Single submitter ⚠
- p.Gly140Arg Single submitter holoprosencephaly 5 ⚠
- p.Gly145Ser Single submitter holoprosencephaly 5 ⚠
- p.Gly15Ser Single submitter Inborn genetic diseases ⚠
- p.Gly161Val Single submitter Inborn genetic diseases ⚠
- p.Gly185Asp Single submitter holoprosencephaly 5 ⚠
- p.Gly185Ser Single submitter holoprosencephaly 5 ⚠
- p.Gly311Ser Single submitter holoprosencephaly 5 ⚠
- p.Gly339Ser Single submitter Inborn genetic diseases ⚠
- p.Gly431Val Single submitter holoprosencephaly 5 ⚠
- p.Gly439Glu Single submitter holoprosencephaly 5
- p.Gly477Asp Single submitter Inborn genetic diseases ⚠
- p.Gly479Ser Single submitter holoprosencephaly 5 ⚠
- p.Gly484Ala Single submitter Inborn genetic diseases ⚠
- p.Gly484Val Single submitter ⚠
- p.Gly487Arg Single submitter ⚠
- p.Gly48Ala Single submitter holoprosencephaly 5 ⚠
- p.Gly48Asp Single submitter holoprosencephaly 5 ⚠
- p.Gly492_Ser493insGlyGly Single submitter holoprosencephaly 5
- p.Gly492Ser Single submitter holoprosencephaly 5 ⚠
- p.Gly496Val Single submitter ⚠
- p.Gly497Ala Single submitter holoprosencephaly 5 ⚠
- p.Gly497Glu Single submitter holoprosencephaly 5 ⚠
- p.Gly499fs Single submitter holoprosencephaly 5
- p.Gly503Asp Single submitter Inborn genetic diseases
- p.Gly503Cys Single submitter holoprosencephaly 5 ⚠
- p.Gly506Arg Single submitter holoprosencephaly 5
- p.Gly506Asp Single submitter holoprosencephaly 5 ⚠
- p.Gly506fs Single submitter holoprosencephaly 5
- p.Gly507_Gly513del Single submitter holoprosencephaly 5
- p.Gly508Asp Single submitter holoprosencephaly 5 ⚠
- p.Gly512Ala Single submitter holoprosencephaly 5 ⚠
- p.Gly512Glu Single submitter holoprosencephaly 5
- p.Gly513Asp Single submitter holoprosencephaly 5
- p.Gly513Cys Single submitter ⚠
- p.Gly513Val Single submitter ⚠
- p.Gly515Arg Single submitter Inborn genetic diseases ⚠
- p.Gly515Glu Single submitter holoprosencephaly 5
- p.Gly518Ala Single submitter Inborn genetic diseases ⚠
- p.Gly519Ser Single submitter Inborn genetic diseases ⚠
- p.Gly519Val Single submitter holoprosencephaly 5 ⚠
- p.Gly6Cys Single submitter ⚠
- p.Gly87Asp Single submitter holoprosencephaly 5 ⚠
- p.Gly87Ser Single submitter holoprosencephaly 5 ⚠
- p.His101Gln Single submitter holoprosencephaly 5 ⚠
- p.His101Pro Single submitter Inborn genetic diseases ⚠
- p.His150Gln Single submitter holoprosencephaly 5 ⚠
- p.His169Gln Single submitter holoprosencephaly 5 ⚠
- p.His169Leu Single submitter holoprosencephaly 5 ⚠
- p.His211Pro Single submitter Inborn genetic diseases
- p.His21Arg Single submitter Inborn genetic diseases ⚠
- p.His235Gln Single submitter ⚠
- p.His236Arg Single submitter holoprosencephaly 5 ⚠
- p.His237_His239del Single submitter holoprosencephaly 5
- p.His238Tyr Single submitter ⚠
- p.His239Pro Single submitter holoprosencephaly 5 ⚠
- p.His281Tyr Single submitter holoprosencephaly 5 ⚠
- p.His286Tyr Single submitter holoprosencephaly 5 ⚠
- p.His327Arg Single submitter holoprosencephaly 5 ⚠
- p.His353Pro Single submitter holoprosencephaly 5
- p.His383Arg Single submitter ⚠
- p.His387= Single submitter
- p.His520Asp Single submitter holoprosencephaly 5 ⚠
- p.His520Tyr Single submitter Inborn genetic diseases ⚠
- p.His56Pro Single submitter holoprosencephaly 5 ⚠
- p.His67Tyr Single submitter holoprosencephaly 5 ⚠
- p.Ile324Met Single submitter Inborn genetic diseases ⚠
- p.Leu146Pro Single submitter ⚠
- p.Leu157Ile Single submitter ⚠
- p.Leu158Phe Single submitter holoprosencephaly 5 ⚠
- p.Leu183Met Single submitter holoprosencephaly 5 ⚠
- p.Leu266Pro Single submitter holoprosencephaly 5 ⚠
- p.Leu283Val Single submitter Inborn genetic diseases ⚠
- p.Lys270Arg Single submitter holoprosencephaly 5 ⚠
- p.Lys275Arg Single submitter holoprosencephaly 5 ⚠
- p.Lys275Asn Single submitter holoprosencephaly 5 ⚠
- p.Lys315Arg Single submitter ⚠
- p.Lys319Gln Single submitter ⚠
- p.Lys351Gln Single submitter ⚠
- p.Lys351Glu Single submitter holoprosencephaly 5 ⚠
- p.Lys413Asn Single submitter ⚠
- p.Met1Leu Single submitter holoprosencephaly 5
- p.Met1Thr Single submitter holoprosencephaly 5
- p.Met223Val Single submitter holoprosencephaly 5 ⚠
- p.Met225Val Single submitter holoprosencephaly 5 ⚠
- p.Met384Thr Single submitter holoprosencephaly 5 ⚠
- p.Phe121Leu Single submitter holoprosencephaly 5 ⚠
- p.Phe126Ile Single submitter Inborn genetic diseases ⚠
- p.Phe139Leu Single submitter ⚠
- p.Phe244Leu Single submitter Inborn genetic diseases ⚠
- p.Phe344Leu Single submitter ⚠
- p.Phe60Ser Single submitter Inborn genetic diseases ⚠
- p.Phe77Leu Single submitter holoprosencephaly 5 ⚠
- p.Pro100Ser Single submitter holoprosencephaly 5 ⚠
- p.Pro131Ser Single submitter Inborn genetic diseases ⚠
- p.Pro184Ser Single submitter Inborn genetic diseases ⚠
- p.Pro204_Tyr205insHisSerAspAlaGlnGlyHisLeuLeuPheProGlyLeuProGluGlnHisGlyProHisGlySerGlnAsnValLeuAsnGlyGlnMetArgLeuGlyLeuProGlyGluValPheGlyArgSerGluGlnTyrArgGlnValAlaSerProArgThrAspPro Single submitter holoprosencephaly 5
- p.Pro308Leu Single submitter holoprosencephaly 5 ⚠
- p.Pro313Ser Single submitter holoprosencephaly 5 ⚠
- p.Pro332His Single submitter ⚠
- p.Pro338Ser Single submitter holoprosencephaly 5 ⚠
- p.Pro362Arg Single submitter ⚠
- p.Pro419Leu Single submitter holoprosencephaly 5 ⚠
- p.Pro419Thr Single submitter holoprosencephaly 5 ⚠
- p.Pro426= Single submitter holoprosencephaly 5
- p.Pro426Arg Single submitter Inborn genetic diseases ⚠
- p.Pro426Leu Single submitter Inborn genetic diseases ⚠
- p.Pro437Thr Single submitter ⚠
- p.Pro443Leu Single submitter Inborn genetic diseases ⚠
- p.Pro64Ser Single submitter holoprosencephaly 5 ⚠
- p.Pro71_Ser79del Single submitter holoprosencephaly 5
- p.Pro71Ser Single submitter ⚠
- p.Pro86Thr Single submitter Inborn genetic diseases ⚠
- p.Ser109Phe Single submitter ⚠
- p.Ser129Ala Single submitter Inborn genetic diseases ⚠
- p.Ser151Ala Single submitter holoprosencephaly 5 ⚠
- p.Ser16Asn Single submitter ZIC2-related disorder ⚠
- p.Ser434Trp Single submitter ⚠
- p.Ser444Arg Single submitter holoprosencephaly 5 ⚠
- p.Ser444Asn Single submitter holoprosencephaly 5 ⚠
- p.Ser444Gly Single submitter holoprosencephaly 5 ⚠
- p.Ser449Asn Single submitter ⚠
- p.Ser480Leu Single submitter holoprosencephaly 5 ⚠
- p.Ser482Asn Single submitter holoprosencephaly 5 ⚠
- p.Ser489_Gly491del Single submitter
- p.Ser509_Gly515del Single submitter holoprosencephaly 5
- p.Ser509Gly Single submitter holoprosencephaly 5 ⚠
- p.Ser514Asn Single submitter holoprosencephaly 5 ⚠
- p.Ser525Thr Single submitter holoprosencephaly 5 ⚠
- p.Ser70Pro Single submitter ⚠
- p.Ser75Pro Single submitter holoprosencephaly 5 ⚠
- p.Ter533= Single submitter holoprosencephaly 5
- p.Thr279Ile Single submitter holoprosencephaly 5 ⚠
- p.Thr285Ser Single submitter holoprosencephaly 5 ⚠
- p.Thr328Ile Single submitter holoprosencephaly 5 ⚠
- p.Thr328Lys Single submitter holoprosencephaly 5 ⚠
- p.Thr358= Single submitter holoprosencephaly 5
- p.Thr358Lys Single submitter holoprosencephaly 5 ⚠
- p.Thr436Met Single submitter holoprosencephaly 5 ⚠
- p.Thr78Ser Single submitter Inborn genetic diseases ⚠
- p.Tyr108Phe Single submitter ⚠
- p.Tyr214Asn Single submitter holoprosencephaly 5 ⚠
- p.Val14Ala Single submitter holoprosencephaly 5 ⚠
- p.Val14Leu Single submitter Inborn genetic diseases ⚠
- p.Val187Met Single submitter Inborn genetic diseases ⚠
- p.Val321Ile Single submitter holoprosencephaly 5
- p.Val474_His475insProAlaVal Single submitter holoprosencephaly 5
- p.Val532Ala Single submitter ⚠
- p.Val326Leu No assertion criteria ZIC2-related disorder ⚠