SIX3 — 268 ClinVar variants
All ClinVar germline SIX3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 122 flagged for review →
20 Pathogenic · 12 Likely pathogenic · 15 Conflicting · 10 Benign · 10 Benign/Likely benign · 58 Likely benign · 143 Uncertain significance
Full SIX3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 122
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.
-
SIX3 p.Ala172Gly
Conflicting
Single submitter
holoprosencephaly 2
-
SIX3 p.Ile275Thr
Conflicting
Single submitter
holoprosencephaly 2
-
SIX3 p.Leu29Pro
Conflicting
Single submitter
holoprosencephaly 2
Predicted LoF vs a conflicting call 2
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
Predictors lean, ClinVar uncertain 85
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
SIX3 p.Ala72Val
Uncertain significance
Multiple submitters
holoprosencephaly 2
-
SIX3 p.Arg146Cys
Uncertain significance
Multiple submitters
holoprosencephaly 2
-
SIX3 p.Arg201His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SIX3 p.Asp205His
Uncertain significance
Multiple submitters
holoprosencephaly 2
-
SIX3 p.Gly103Arg
Uncertain significance
Multiple submitters
holoprosencephaly 2
-
SIX3 p.Gly244Cys
Uncertain significance
Multiple submitters
holoprosencephaly 2
-
SIX3 p.Gly317Ser
Uncertain significance
Multiple submitters
holoprosencephaly 2
-
SIX3 p.Gly66Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SIX3 p.Gly69Asp
Uncertain significance
Multiple submitters
holoprosencephaly 2
-
SIX3 p.Met280Ile
Uncertain significance
Multiple submitters
holoprosencephaly 2
-
SIX3 p.Phe14Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SIX3 p.Pro289Thr
Uncertain significance
Multiple submitters
SIX3-related disorder
-
SIX3 p.Pro74Arg
Uncertain significance
Multiple submitters
holoprosencephaly 2
-
SIX3 p.Ser70Cys
Uncertain significance
Multiple submitters
holoprosencephaly 2
- SIX3 p.Ala121Glu Uncertain significance Single submitter
- SIX3 p.Ala274Val Uncertain significance Single submitter
-
SIX3 p.Ala284Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- SIX3 p.Ala284Pro Uncertain significance Single submitter
- SIX3 p.Ala38Thr Uncertain significance Single submitter
- SIX3 p.Ala72Ser Uncertain significance Single submitter
-
SIX3 p.Ala93Val
Uncertain significance
Single submitter
Inborn genetic diseases
- SIX3 p.Arg110Leu Uncertain significance Single submitter
-
SIX3 p.Arg135His
Uncertain significance
Single submitter
Inborn genetic diseases
- SIX3 p.Arg146Leu Uncertain significance Single submitter
- SIX3 p.Arg194Ser Uncertain significance Single submitter
- SIX3 p.Arg222Gln Uncertain significance Single submitter
- SIX3 p.Arg237Cys Uncertain significance Single submitter
- SIX3 p.Arg257Gly Uncertain significance Single submitter
-
SIX3 p.Arg260Cys
Uncertain significance
Single submitter
schizencephaly
-
SIX3 p.Arg262His
Uncertain significance
Single submitter
holoprosencephaly 2
-
SIX3 p.Arg313His
Uncertain significance
Single submitter
Inborn genetic diseases
-
SIX3 p.Asn126Ser
Uncertain significance
Single submitter
holoprosencephaly 2
-
SIX3 p.Asn144Asp
Uncertain significance
Single submitter
holoprosencephaly 2
-
SIX3 p.Asn18Tyr
Uncertain significance
Single submitter
holoprosencephaly 2
-
SIX3 p.Asn36Asp
Uncertain significance
Single submitter
schizencephaly
-
SIX3 p.Asp147Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- SIX3 p.Asp147Tyr Uncertain significance Single submitter
-
SIX3 p.Asp21Asn
Uncertain significance
Single submitter
holoprosencephaly 2
- SIX3 p.Asp261Val Uncertain significance Single submitter
-
SIX3 p.Asp315Asn
Uncertain significance
Single submitter
holoprosencephaly 2
- SIX3 p.Gln273His Uncertain significance Single submitter
-
SIX3 p.Glu312Gly
Uncertain significance
Single submitter
holoprosencephaly 2
-
SIX3 p.Glu76Val
Uncertain significance
Single submitter
holoprosencephaly 2
- SIX3 p.Gly163Ser Uncertain significance Single submitter
- SIX3 p.Gly279Val Uncertain significance Single submitter
-
SIX3 p.Gly287Ser
Uncertain significance
Single submitter
SIX3-related disorder
-
SIX3 p.Gly33Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SIX3 p.Gly47Val
Uncertain significance
Single submitter
holoprosencephaly 2
- SIX3 p.Gly50Ser Uncertain significance Single submitter
-
SIX3 p.Gly53Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SIX3 p.His162Gln
Uncertain significance
Single submitter
holoprosencephaly 2
- SIX3 p.His211Tyr Uncertain significance Single submitter
-
SIX3 p.His24Gln
Uncertain significance
Single submitter
holoprosencephaly 2
-
SIX3 p.His24Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SIX3 p.His291Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- SIX3 p.Ile151Asn Uncertain significance Single submitter
-
SIX3 p.Ile27Val
Uncertain significance
Single submitter
holoprosencephaly 2
-
SIX3 p.Leu152Phe
Uncertain significance
Single submitter
holoprosencephaly 2
- SIX3 p.Leu220Val Uncertain significance Single submitter
- SIX3 p.Leu239Arg Uncertain significance Single submitter
- SIX3 p.Leu239Val Uncertain significance Single submitter
- SIX3 p.Leu310Pro Uncertain significance Single submitter
-
SIX3 p.Leu7Ile
Uncertain significance
Single submitter
holoprosencephaly 2
- SIX3 p.Leu9Val Uncertain significance Single submitter
- SIX3 p.Lys209Arg Uncertain significance Single submitter
-
SIX3 p.Met280Lys
Uncertain significance
Single submitter
holoprosencephaly 2
-
SIX3 p.Pro187Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
SIX3 p.Pro229Leu
Uncertain significance
Single submitter
holoprosencephaly 2
-
SIX3 p.Pro286Ser
Uncertain significance
Single submitter
holoprosencephaly 2
-
SIX3 p.Pro297Leu
Uncertain significance
Single submitter
holoprosencephaly 2
-
SIX3 p.Ser130Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- SIX3 p.Ser219Arg Uncertain significance Single submitter
-
SIX3 p.Ser22Phe
Uncertain significance
Single submitter
holoprosencephaly 2
- SIX3 p.Ser293Pro Uncertain significance Single submitter
- SIX3 p.Ser306Thr Uncertain significance Single submitter
- SIX3 p.Ser309Thr Uncertain significance Single submitter
-
SIX3 p.Ser31Thr
Uncertain significance
Single submitter
holoprosencephaly 2
-
SIX3 p.Ser70Pro
Uncertain significance
Single submitter
schizencephaly
- SIX3 p.Thr217Ile Uncertain significance Single submitter
- SIX3 p.Thr290Lys Uncertain significance Single submitter
- SIX3 p.Thr84Ser Uncertain significance Single submitter
-
SIX3 p.Trp113Ser
Uncertain significance
Single submitter
holoprosencephaly 2
- SIX3 p.Trp169Arg Uncertain significance Single submitter
-
SIX3 p.Tyr191His
Uncertain significance
Single submitter
Inborn genetic diseases
- SIX3 p.Glu129Lys Uncertain significance No assertion criteria
Predictors split 32
The independent predictors disagree with each other — read with care.
-
SIX3 p.Gly37Cys
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
-
SIX3 p.Gly43Cys
Uncertain significance
Multiple submitters
holoprosencephaly 2
-
SIX3 p.Gly55Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SIX3 p.His128Tyr
Uncertain significance
Multiple submitters
holoprosencephaly 2
-
SIX3 p.Pro6Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SIX3 p.Ala167Ser
Uncertain significance
Single submitter
schizencephaly
- SIX3 p.Arg4Cys Uncertain significance Single submitter
-
SIX3 p.Asn52Tyr
Uncertain significance
Single submitter
holoprosencephaly 2
-
SIX3 p.Asp21Tyr
Conflicting
Single submitter
holoprosencephaly 2
- SIX3 p.Asp331Glu Uncertain significance Single submitter
-
SIX3 p.Cys330Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
SIX3 p.Glu160Lys
Uncertain significance
Single submitter
holoprosencephaly 2
-
SIX3 p.Glu329Gln
Uncertain significance
Single submitter
holoprosencephaly 2
-
SIX3 p.Gly317Arg
Uncertain significance
Single submitter
holoprosencephaly 2
- SIX3 p.Gly37Arg Uncertain significance Single submitter
-
SIX3 p.Gly53Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SIX3 p.Gly53Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- SIX3 p.Gly57Asp Uncertain significance Single submitter
-
SIX3 p.Gly57Cys
Uncertain significance
Single submitter
holoprosencephaly 2
-
SIX3 p.Gly58Cys
Uncertain significance
Single submitter
holoprosencephaly 2
-
SIX3 p.Gly69Cys
Uncertain significance
Single submitter
holoprosencephaly 2
-
SIX3 p.Leu16Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- SIX3 p.Leu185Pro Uncertain significance Single submitter
-
SIX3 p.Met79Ile
Uncertain significance
Single submitter
holoprosencephaly 2
-
SIX3 p.Phe19Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SIX3 p.Ser130Pro
Uncertain significance
Single submitter
SIX3-related disorder
- SIX3 p.Ser278Arg Uncertain significance Single submitter
-
SIX3 p.Ser306Asn
Uncertain significance
Single submitter
holoprosencephaly 2
- SIX3 p.Thr102Met Uncertain significance Single submitter
-
SIX3 p.Thr142Met
Uncertain significance
Single submitter
holoprosencephaly 2
-
SIX3 p.Thr316Ile
Conflicting
Single submitter
holoprosencephaly 2
-
SIX3 p.Val92Met
Uncertain significance
Single submitter
Inborn genetic diseases
All SIX3 variants
Pathogenic 20
- p.Ala136fs Multiple submitters holoprosencephaly 2
- c.794_806+27delinsAGGCCA Single submitter
- p.Ala121fs Single submitter
- p.Arg135_Ala139del Single submitter holoprosencephaly 2
- p.Cys96Ter Single submitter
- p.Gln241Ter Single submitter SIX3-related disorder
- p.Gln91Ter Single submitter
- p.Glu207Ter Single submitter holoprosencephaly 2
- p.Gly244fs Single submitter
- p.Leu148fs Single submitter holoprosencephaly 2
- p.Thr142fs Single submitter holoprosencephaly 2
- p.Trp113Cys Single submitter holoprosencephaly 2
- p.Trp169Ter Single submitter holoprosencephaly 2
- p.Val137fs Single submitter
- p.Val250Ala Single submitter holoprosencephaly 2
- p.Val92Gly Single submitter holoprosencephaly 2
- p.Asn232fs No assertion criteria holoprosencephaly 2
- p.Glu129Ter No assertion criteria schizencephaly
- p.Leu226Val No assertion criteria holoprosencephaly 2
- p.Pro187fs No assertion criteria holoprosencephaly 2
Likely pathogenic 12
- c.806+2T>C Single submitter SIX3-related disorder
- p.Ala134Glu Single submitter holoprosencephaly 2
- p.Ala274fs Single submitter
- p.Arg194Pro Single submitter holoprosencephaly 2
- p.Arg257Pro Single submitter holoprosencephaly 2
- p.Arg258Trp Single submitter SIX3-related disorder
- p.Cys212fs Single submitter
- p.Gln259His Single submitter
- p.Glu75fs Single submitter
- p.Phe140Ser Single submitter
- p.Trp224Ter Single submitter holoprosencephaly 2
- p.Tyr10fs Single submitter
Conflicting classifications of pathogenicity 15
- p.Ala172Gly Single submitter holoprosencephaly 2 ⚠
- p.Arg262= Single submitter holoprosencephaly 2
- p.Asp21Tyr Single submitter holoprosencephaly 2 ⚠
- p.Glu123= Single submitter holoprosencephaly 2
- p.Gly35= Single submitter holoprosencephaly 2
- p.Gly42_Gly47del Single submitter Inborn genetic diseases
- p.Gly42_Gly47dup Single submitter Inborn genetic diseases
- p.Gly56= Single submitter holoprosencephaly 2
- p.Gly69_Ser70insGlyGly Single submitter holoprosencephaly 2
- p.Gly69dup Single submitter schizencephaly
- p.Ile275Thr Single submitter holoprosencephaly 2 ⚠
- p.Leu29Pro Single submitter holoprosencephaly 2 ⚠
- p.Leu7fs Single submitter holoprosencephaly 2 ⚠
- p.Met1Val Single submitter ⚠
- p.Thr316Ile Single submitter holoprosencephaly 2 ⚠
Benign 10
- c.806+104G>A Multiple submitters
- c.806+143G>C Multiple submitters
- c.806+145A>G Multiple submitters
- p.Ala20Ser Multiple submitters holoprosencephaly 2
- p.Ala30= Multiple submitters holoprosencephaly 2
- p.Ala314= Multiple submitters holoprosencephaly 2
- p.Arg192= Multiple submitters schizencephaly
- c.807-161C>T Single submitter
- c.-292CCTCTC[2] Single submitter
- p.Pro277Gln Single submitter holoprosencephaly 2
Benign/Likely benign 10
- c.807-7C>T Multiple submitters holoprosencephaly 2
- p.Ala240= Multiple submitters holoprosencephaly 2
- p.Gln175= Multiple submitters holoprosencephaly 2
- p.Gly37Cys Multiple submitters Inborn genetic diseases ⚠
- p.Pro116= Multiple submitters holoprosencephaly 2
- p.Pro303= Multiple submitters holoprosencephaly 2
- p.Pro73= Multiple submitters holoprosencephaly 2
- p.Thr102= Multiple submitters holoprosencephaly 2
- p.Thr98= Multiple submitters holoprosencephaly 2
- p.Val117= Multiple submitters holoprosencephaly 2
Likely benign 58
- p.Leu108= Multiple submitters
- p.Pro184= Multiple submitters holoprosencephaly 2
- p.Pro277= Multiple submitters holoprosencephaly 2
- p.Pro297= Multiple submitters holoprosencephaly 2
- c.806+16C>T Single submitter holoprosencephaly 2
- c.807-15C>G Single submitter holoprosencephaly 2
- c.807-6C>T Single submitter holoprosencephaly 2
- c.-323C>T Single submitter
- p.Ala121= Single submitter holoprosencephaly 2
- p.Ala177= Single submitter holoprosencephaly 2
- p.Ala20= Single submitter holoprosencephaly 2
- p.Ala263= Single submitter holoprosencephaly 2
- p.Ala294= Single submitter holoprosencephaly 2
- p.Ala54= Single submitter holoprosencephaly 2
- p.Ala72= Single submitter holoprosencephaly 2
- p.Arg107= Single submitter
- p.Arg146= Single submitter holoprosencephaly 2
- p.Arg194= Single submitter holoprosencephaly 2
- p.Arg222= Single submitter holoprosencephaly 2
- p.Arg281= Single submitter holoprosencephaly 2
- p.Asn126= Single submitter
- p.Asn36= Single submitter holoprosencephaly 2
- p.Glu100= Single submitter
- p.Glu129= Single submitter holoprosencephaly 2
- p.Glu238= Single submitter holoprosencephaly 2
- p.Glu285= Single submitter
- p.Gly40= Single submitter holoprosencephaly 2
- p.Gly57= Single submitter holoprosencephaly 2
- p.His13= Single submitter holoprosencephaly 2
- p.His155= Single submitter holoprosencephaly 2
- p.Leu132= Single submitter holoprosencephaly 2
- p.Leu15= Single submitter
- p.Leu16= Single submitter holoprosencephaly 2
- p.Leu221= Single submitter holoprosencephaly 2
- p.Leu226= Single submitter holoprosencephaly 2
- p.Leu245= Single submitter holoprosencephaly 2
- p.Leu82= Single submitter holoprosencephaly 2
- p.Lys196= Single submitter holoprosencephaly 2
- p.Phe14= Single submitter
- p.Phe145= Single submitter
- p.Phe157= Single submitter
- p.Phe19= Single submitter holoprosencephaly 2
- p.Phe197= Single submitter holoprosencephaly 2
- p.Pro187= Single submitter
- p.Pro6= Single submitter
- p.Ser114= Single submitter holoprosencephaly 2
- p.Ser219= Single submitter holoprosencephaly 2
- p.Ser32= Single submitter holoprosencephaly 2
- p.Ser48Gly Single submitter Inborn genetic diseases
- p.Ser88= Single submitter holoprosencephaly 2
- p.Thr210= Single submitter holoprosencephaly 2
- p.Thr304= Single submitter holoprosencephaly 2
- p.Thr311= Single submitter holoprosencephaly 2
- p.Tyr191= Single submitter holoprosencephaly 2
- p.Val138= Single submitter holoprosencephaly 2
- p.Val2= Single submitter holoprosencephaly 2
- p.Asp331= No assertion criteria SIX3-related disorder
- p.Gly33= No assertion criteria SIX3-related disorder
Uncertain significance 143
- p.Ala72Val Multiple submitters holoprosencephaly 2 ⚠
- p.Arg146Cys Multiple submitters holoprosencephaly 2 ⚠
- p.Arg201His Multiple submitters Inborn genetic diseases ⚠
- p.Arg281Ser Multiple submitters Inborn genetic diseases
- p.Asp205His Multiple submitters holoprosencephaly 2 ⚠
- p.Gly103Arg Multiple submitters holoprosencephaly 2 ⚠
- p.Gly244Cys Multiple submitters holoprosencephaly 2 ⚠
- p.Gly317Ser Multiple submitters holoprosencephaly 2 ⚠
- p.Gly43Cys Multiple submitters holoprosencephaly 2 ⚠
- p.Gly55Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gly66Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly69Asp Multiple submitters holoprosencephaly 2 ⚠
- p.His128Tyr Multiple submitters holoprosencephaly 2 ⚠
- p.Met280Ile Multiple submitters holoprosencephaly 2 ⚠
- p.Phe14Cys Multiple submitters Inborn genetic diseases ⚠
- p.Pro289Thr Multiple submitters SIX3-related disorder ⚠
- p.Pro6Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro74Arg Multiple submitters holoprosencephaly 2 ⚠
- p.Ser296Trp Multiple submitters holoprosencephaly 2
- p.Ser70Cys Multiple submitters holoprosencephaly 2 ⚠
- c.-2C>G Single submitter
- p.Ala121Glu Single submitter ⚠
- p.Ala167Ser Single submitter schizencephaly ⚠
- p.Ala274Val Single submitter ⚠
- p.Ala284Gly Single submitter Inborn genetic diseases ⚠
- p.Ala284Pro Single submitter ⚠
- p.Ala38Thr Single submitter ⚠
- p.Ala44_Gly50del Single submitter
- p.Ala72Ser Single submitter ⚠
- p.Ala93Val Single submitter Inborn genetic diseases ⚠
- p.Arg110Leu Single submitter ⚠
- p.Arg135His Single submitter Inborn genetic diseases ⚠
- p.Arg146Leu Single submitter ⚠
- p.Arg194Ser Single submitter ⚠
- p.Arg222Gln Single submitter ⚠
- p.Arg237Cys Single submitter ⚠
- p.Arg257Gly Single submitter ⚠
- p.Arg260Cys Single submitter schizencephaly ⚠
- p.Arg262His Single submitter holoprosencephaly 2 ⚠
- p.Arg313His Single submitter Inborn genetic diseases ⚠
- p.Arg4Cys Single submitter ⚠
- p.Asn126Ser Single submitter holoprosencephaly 2 ⚠
- p.Asn144Asp Single submitter holoprosencephaly 2 ⚠
- p.Asn18Tyr Single submitter holoprosencephaly 2 ⚠
- p.Asn36_Gly42del Single submitter
- p.Asn36Asp Single submitter schizencephaly ⚠
- p.Asn52Tyr Single submitter holoprosencephaly 2 ⚠
- p.Asp147Asn Single submitter Inborn genetic diseases ⚠
- p.Asp147Tyr Single submitter ⚠
- p.Asp21Asn Single submitter holoprosencephaly 2 ⚠
- p.Asp261Val Single submitter ⚠
- p.Asp315Asn Single submitter holoprosencephaly 2 ⚠
- p.Asp331Glu Single submitter ⚠
- p.Cys330Trp Single submitter Inborn genetic diseases ⚠
- p.Gln271His Single submitter Inborn genetic diseases
- p.Gln273His Single submitter ⚠
- p.Glu101_Thr102insMetGluGlu Single submitter holoprosencephaly 2
- p.Glu160Lys Single submitter holoprosencephaly 2 ⚠
- p.Glu312Gly Single submitter holoprosencephaly 2 ⚠
- p.Glu329Gln Single submitter holoprosencephaly 2 ⚠
- p.Glu76Lys Single submitter holoprosencephaly 2
- p.Glu76Val Single submitter holoprosencephaly 2 ⚠
- p.Gly163Ser Single submitter ⚠
- p.Gly279Val Single submitter ⚠
- p.Gly287fs Single submitter
- p.Gly287Ser Single submitter SIX3-related disorder ⚠
- p.Gly292= Single submitter
- p.Gly317Arg Single submitter holoprosencephaly 2 ⚠
- p.Gly33Ser Single submitter Inborn genetic diseases ⚠
- p.Gly37Arg Single submitter ⚠
- p.Gly43_Ala44insGly Single submitter
- p.Gly43_Gly58del Single submitter holoprosencephaly 2
- p.Gly43Arg Single submitter Inborn genetic diseases
- p.Gly43del Single submitter holoprosencephaly 2
- p.Gly47_Ser48insAlaGlyGlyGly Single submitter holoprosencephaly 2
- p.Gly47_Ser48insGlyGlyAlaGlyGlyGly Single submitter holoprosencephaly 2
- p.Gly47Val Single submitter holoprosencephaly 2 ⚠
- p.Gly50Ser Single submitter ⚠
- p.Gly53Arg Single submitter Inborn genetic diseases ⚠
- p.Gly53Cys Single submitter Inborn genetic diseases ⚠
- p.Gly53Ser Single submitter Inborn genetic diseases ⚠
- p.Gly57Asp Single submitter ⚠
- p.Gly57Cys Single submitter holoprosencephaly 2 ⚠
- p.Gly58Cys Single submitter holoprosencephaly 2 ⚠
- p.Gly60= Single submitter
- p.Gly61Arg Single submitter Inborn genetic diseases
- p.Gly67_Gly69del Single submitter holoprosencephaly 2
- p.Gly69_Ser70insGlyGlyGly Single submitter holoprosencephaly 2
- p.Gly69Cys Single submitter holoprosencephaly 2 ⚠
- p.Gly69del Single submitter holoprosencephaly 2
- p.His162Gln Single submitter holoprosencephaly 2 ⚠
- p.His211Tyr Single submitter ⚠
- p.His24Gln Single submitter holoprosencephaly 2 ⚠
- p.His24Tyr Single submitter Inborn genetic diseases ⚠
- p.His291= Single submitter
- p.His291Gln Single submitter Inborn genetic diseases ⚠
- p.Ile125= Single submitter
- p.Ile151Asn Single submitter ⚠
- p.Ile27Val Single submitter holoprosencephaly 2 ⚠
- p.Leu152Phe Single submitter holoprosencephaly 2 ⚠
- p.Leu16Trp Single submitter Inborn genetic diseases ⚠
- p.Leu185Pro Single submitter ⚠
- p.Leu220Val Single submitter ⚠
- p.Leu239Arg Single submitter ⚠
- p.Leu239Val Single submitter ⚠
- p.Leu310Pro Single submitter ⚠
- p.Leu321Phe Single submitter holoprosencephaly 2
- p.Leu7Ile Single submitter holoprosencephaly 2 ⚠
- p.Leu9Val Single submitter ⚠
- p.Lys209Arg Single submitter ⚠
- p.Met280Lys Single submitter holoprosencephaly 2 ⚠
- p.Met79Ile Single submitter holoprosencephaly 2 ⚠
- p.Phe19Leu Single submitter Inborn genetic diseases ⚠
- p.Pro187Ala Single submitter Inborn genetic diseases ⚠
- p.Pro198= Single submitter
- p.Pro229Leu Single submitter holoprosencephaly 2 ⚠
- p.Pro286Ser Single submitter holoprosencephaly 2 ⚠
- p.Pro297Leu Single submitter holoprosencephaly 2 ⚠
- p.Pro74del Single submitter
- p.Ser130Pro Single submitter SIX3-related disorder ⚠
- p.Ser130Trp Single submitter Inborn genetic diseases ⚠
- p.Ser219Arg Single submitter ⚠
- p.Ser22Phe Single submitter holoprosencephaly 2 ⚠
- p.Ser278Arg Single submitter ⚠
- p.Ser293Pro Single submitter ⚠
- p.Ser302_Thr304del Single submitter holoprosencephaly 2
- p.Ser306Asn Single submitter holoprosencephaly 2 ⚠
- p.Ser306Thr Single submitter ⚠
- p.Ser309Thr Single submitter ⚠
- p.Ser31Thr Single submitter holoprosencephaly 2 ⚠
- p.Ser48_Gly50del Single submitter holoprosencephaly 2
- p.Ser70Pro Single submitter schizencephaly ⚠
- p.Ser94Asn Single submitter Inborn genetic diseases
- p.Thr102Met Single submitter ⚠
- p.Thr142Met Single submitter holoprosencephaly 2 ⚠
- p.Thr217Ile Single submitter ⚠
- p.Thr290Lys Single submitter ⚠
- p.Thr84Ser Single submitter ⚠
- p.Trp113Ser Single submitter holoprosencephaly 2 ⚠
- p.Trp169Arg Single submitter ⚠
- p.Tyr191His Single submitter Inborn genetic diseases ⚠
- p.Val92Met Single submitter Inborn genetic diseases ⚠
- p.Glu129Lys No assertion criteria ⚠