CDON — 795 ClinVar variants
All ClinVar germline CDON variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 341 flagged for review →
3 Pathogenic · 2 Likely pathogenic · 33 Conflicting · 159 Benign · 19 Benign/Likely benign · 144 Likely benign · 435 Uncertain significance
Full CDON gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 341
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 3
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
CDON p.Glu922Lys
Pathogenic
Single submitter
pituitary stalk interruption syndrome
-
CDON p.Pro689Ala
Likely pathogenic
Single submitter
holoprosencephaly 11
-
CDON p.Thr790Ala
Pathogenic
No assertion criteria
holoprosencephaly 11
Predictors agree, ClinVar conflicts 19
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CDON p.Arg1187His
Conflicting
Single submitter
CDON-related disorder
-
CDON p.Arg540Ile
Conflicting
Single submitter
holoprosencephaly 11
-
CDON p.Arg58His
Conflicting
Single submitter
holoprosencephaly 11
-
CDON p.Asn342Ser
Conflicting
Single submitter
Inborn genetic diseases
-
CDON p.Asn609Ser
Conflicting
Single submitter
Inborn genetic diseases
-
CDON p.Asn856Ser
Conflicting
Single submitter
holoprosencephaly 11
-
CDON p.Asp1192Asn
Conflicting
Single submitter
holoprosencephaly 11
-
CDON p.Asp1252His
Conflicting
Single submitter
Inborn genetic diseases
-
CDON p.Glu34Ala
Conflicting
Single submitter
holoprosencephaly 11
-
CDON p.Gly1201Asp
Conflicting
Single submitter
holoprosencephaly 11
-
CDON p.His1086Gln
Conflicting
Single submitter
holoprosencephaly 11
-
CDON p.His831Arg
Conflicting
Single submitter
Inborn genetic diseases
-
CDON p.Pro1254Leu
Conflicting
Single submitter
Inborn genetic diseases
-
CDON p.Pro215Arg
Conflicting
Single submitter
Inborn genetic diseases
-
CDON p.Pro264Gln
Conflicting
Single submitter
Inborn genetic diseases
-
CDON p.Pro3Ser
Conflicting
Single submitter
holoprosencephaly 11
-
CDON p.Ser463Pro
Conflicting
Single submitter
holoprosencephaly 11
-
CDON p.Ser875Asn
Conflicting
Single submitter
holoprosencephaly 11
-
CDON p.Val952Met
Conflicting
Single submitter
holoprosencephaly 11
Predictors lean, ClinVar uncertain 212
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 212
-
CDON p.Ala1099Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDON p.Ala480Val
Uncertain significance
Multiple submitters
holoprosencephaly 11
-
CDON p.Ala495Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDON p.Arg142Trp
Uncertain significance
Multiple submitters
holoprosencephaly 11
-
CDON p.Arg760Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDON p.Arg760Trp
Uncertain significance
Multiple submitters
holoprosencephaly 11
-
CDON p.Arg783His
Uncertain significance
Multiple submitters
CDON-related disorder
-
CDON p.Asn1222Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDON p.Asp1083Glu
Uncertain significance
Multiple submitters
holoprosencephaly 11
-
CDON p.Gln1008Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDON p.Glu663Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDON p.Gly207Asp
Uncertain significance
Multiple submitters
holoprosencephaly 11
-
CDON p.Gly419Arg
Uncertain significance
Multiple submitters
holoprosencephaly 11
-
CDON p.Gly692Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDON p.Gly747Arg
Uncertain significance
Multiple submitters
holoprosencephaly 11
-
CDON p.Gly947Arg
Uncertain significance
Multiple submitters
holoprosencephaly 11
-
CDON p.Ile1230Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDON p.Ile407Thr
Uncertain significance
Multiple submitters
Holoprosencephaly spectrum disorder
-
CDON p.Ile581Val
Uncertain significance
Multiple submitters
holoprosencephaly 11
- CDON p.Pro1132Leu Uncertain significance Multiple submitters
-
CDON p.Pro1172Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDON p.Pro1205Leu
Uncertain significance
Multiple submitters
holoprosencephaly 11
-
CDON p.Ser807Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDON p.Thr1080Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDON p.Thr731Ala
Uncertain significance
Multiple submitters
holoprosencephaly 11
-
CDON p.Thr848Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDON p.Thr848Met
Uncertain significance
Multiple submitters
holoprosencephaly 11
-
CDON p.Tyr651His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDON p.Val1082Met
Uncertain significance
Multiple submitters
holoprosencephaly 11
-
CDON p.Val412Leu
Uncertain significance
Multiple submitters
holoprosencephaly 11
-
CDON p.Val691Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CDON p.Ala292Glu Uncertain significance Single submitter
-
CDON p.Ala327Thr
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Ala327Val
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Ala526Ser
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Ala534Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CDON p.Ala686Ser Uncertain significance Single submitter
-
CDON p.Ala745Thr
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Ala753Val
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Ala985Thr
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Arg1079Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Arg1112Gln
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Arg1115Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Arg236His
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Arg270Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Arg458Gln
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Arg458Gly
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Arg540Thr
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Arg744Trp
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Arg806Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Asn1055Ser
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Asn1117Asp
Uncertain significance
Single submitter
holoprosencephaly 11
- CDON p.Asn167Lys Uncertain significance Single submitter
-
CDON p.Asn294Ser
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Asn427Ser
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Asn523Ser
Uncertain significance
Single submitter
CDON-related disorder
- CDON p.Asn64Lys Uncertain significance Single submitter
- CDON p.Asn873Lys Uncertain significance Single submitter
-
CDON p.Asp1167His
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Asp185Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Asp334His
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Cys1168Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CDON p.Cys243Gly Uncertain significance Single submitter
-
CDON p.Cys987Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Cys9Gly
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Gln1259Leu
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Gln461Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Gln479Glu
Uncertain significance
Single submitter
holoprosencephaly 11
- CDON p.Gln488Arg Uncertain significance Single submitter
-
CDON p.Gln492Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Gln510Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Gln665His
Uncertain significance
Single submitter
holoprosencephaly 11
- CDON p.Gln814Arg Uncertain significance Single submitter
-
CDON p.Glu184Asp
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Glu471Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Glu493Asp
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Glu652Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Glu676Gly
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Glu757Lys
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Glu883Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- CDON p.Glu914Ala Uncertain significance Single submitter
-
CDON p.Gly1004Ala
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Gly1014Arg
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Gly1045Ser
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Gly1146Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Gly1169Ser
Uncertain significance
Single submitter
CDON-related disorder
-
CDON p.Gly1237Val
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Gly293Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CDON p.Gly297Glu Uncertain significance Single submitter
- CDON p.Gly326Cys Uncertain significance Single submitter
-
CDON p.Gly369Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Gly393Arg
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Gly401Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Gly401Ser
Uncertain significance
Single submitter
holoprosencephaly 11
- CDON p.Gly481Val Uncertain significance Single submitter
-
CDON p.Gly573Asp
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Gly573Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CDON p.Gly604Cys Uncertain significance Single submitter
- CDON p.Gly692Val Uncertain significance Single submitter
-
CDON p.Gly748Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Gly788Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Gly911Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Gly950Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- CDON p.His1048Gln Uncertain significance Single submitter
-
CDON p.His1081Gln
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.His1088Arg
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.His127Asp
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.His227Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.His311Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.His311Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.His358Leu
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.His589Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.His63Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.His717Tyr
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.His831Leu
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.His831Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- CDON p.His889Asn Uncertain significance Single submitter
-
CDON p.Ile1221Thr
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Ile1223Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CDON p.Ile367Phe Uncertain significance Single submitter
-
CDON p.Ile693Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Ile832Asn
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Ile859Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Ile891Thr
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Ile920Val
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Leu1147Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Leu16Phe
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Leu271Val
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Leu365Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Leu468Phe
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Leu583Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CDON p.Leu606Gln Uncertain significance Single submitter
- CDON p.Leu711Ile Uncertain significance Single submitter
- CDON p.Leu85Ile Uncertain significance Single submitter
- CDON p.Leu87His Uncertain significance Single submitter
- CDON p.Leu988Pro Uncertain significance Single submitter
-
CDON p.Lys1177Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Lys126Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CDON p.Lys134Thr Uncertain significance Single submitter
- CDON p.Lys695Glu Uncertain significance Single submitter
-
CDON p.Lys755Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CDON p.Lys792Glu Uncertain significance Single submitter
-
CDON p.Met1016Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Met291Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Met655Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Met890Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Met904Lys
Uncertain significance
Single submitter
holoprosencephaly 11
- CDON p.Pro1002Ala Uncertain significance Single submitter
-
CDON p.Pro1002Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Pro1054Thr
Uncertain significance
Single submitter
holoprosencephaly 11
Predictors split 107
The independent predictors disagree with each other — read with care.
-
CDON p.Ala283Val
Uncertain significance
Multiple submitters
holoprosencephaly 11
-
CDON p.Arg157Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDON p.Cys921Arg
Uncertain significance
Multiple submitters
holoprosencephaly 11
-
CDON p.Glu501Lys
Likely benign
Multiple submitters
holoprosencephaly 11
-
CDON p.Gly104Ser
Uncertain significance
Multiple submitters
holoprosencephaly 11
-
CDON p.Gly259Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CDON p.Ile979Thr Uncertain significance Multiple submitters
-
CDON p.Lys1123Glu
Uncertain significance
Multiple submitters
holoprosencephaly 11
-
CDON p.Pro249Leu
Uncertain significance
Multiple submitters
holoprosencephaly 11
-
CDON p.Pro647Leu
Benign/Likely benign
Multiple submitters
holoprosencephaly 11
-
CDON p.Ser124Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDON p.Ser1253Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDON p.Ser368Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDON p.Thr32Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDON p.Thr630Met
Likely benign
Multiple submitters
Inborn genetic diseases
-
CDON p.Tyr1046Cys
Uncertain significance
Multiple submitters
holoprosencephaly 11
-
CDON p.Val691Met
Uncertain significance
Multiple submitters
holoprosencephaly 11
-
CDON p.Ala513Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Ala660Thr
Conflicting
Single submitter
holoprosencephaly 11
-
CDON p.Ala661Thr
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Arg1262Trp
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Arg437His
Conflicting
Single submitter
holoprosencephaly 11
-
CDON p.Arg616Gln
Conflicting
Single submitter
Inborn genetic diseases
-
CDON p.Arg744Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Arg825His
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Arg927Cys
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Arg992Cys
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Asn1062Thr
Uncertain significance
Single submitter
CDON-related disorder
-
CDON p.Asn1066Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Asn147Lys
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Asn348Ser
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Asn504Ser
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Asn908Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Asp1011Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Asp120Gly
Uncertain significance
Single submitter
holoprosencephaly 11
- CDON p.Asp258Glu Uncertain significance Single submitter
-
CDON p.Asp383His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Asp440Glu
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Asp603Gly
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Asp619His
Conflicting
Single submitter
Inborn genetic diseases
-
CDON p.Asp713Gly
Uncertain significance
Single submitter
intellectual disability
-
CDON p.Asp840Asn
Uncertain significance
Single submitter
intellectual disability
-
CDON p.Cys1108Tyr
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Cys1111Tyr
Likely benign
Single submitter
Inborn genetic diseases
-
CDON p.Cys1160Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CDON p.Gln379Arg Uncertain significance Single submitter
-
CDON p.Gln488His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Gln814His
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Glu1148Gly
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Glu803Val
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Gly1004Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Gly1034Arg
Conflicting
Single submitter
Inborn genetic diseases
-
CDON p.Gly1068Glu
Uncertain significance
Single submitter
CDON-related disorder
-
CDON p.Gly1072Arg
Uncertain significance
Single submitter
CDON-related disorder
-
CDON p.Gly443Arg
Uncertain significance
Single submitter
holoprosencephaly 11
- CDON p.Gly481Asp Uncertain significance Single submitter
- CDON p.Gly605Val Uncertain significance Single submitter
-
CDON p.Gly65Arg
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Gly748Ser
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Gly817Arg
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.His199Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Ile262Val
Uncertain significance
Single submitter
holoprosencephaly 11
- CDON p.Ile386Met Uncertain significance Single submitter
-
CDON p.Ile386Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Ile773Phe
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Ile798Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Ile832Met
Conflicting
Single submitter
holoprosencephaly 11
- CDON p.Leu1042Arg Uncertain significance Single submitter
-
CDON p.Leu241Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Leu318Pro
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Leu642Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Leu68Met
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Lys924Glu
Conflicting
Single submitter
Inborn genetic diseases
-
CDON p.Met761Thr
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Phe1036Leu
Uncertain significance
Single submitter
congenital anomaly of kidney and urinary tract
- CDON p.Phe612Leu Uncertain significance Single submitter
-
CDON p.Pro1158Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CDON p.Pro148Ser Uncertain significance Single submitter
- CDON p.Pro172Ser Uncertain significance Single submitter
- CDON p.Pro196Leu Uncertain significance Single submitter
-
CDON p.Pro35Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Pro585Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CDON p.Pro586Arg Uncertain significance Single submitter
-
CDON p.Pro607Ser
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Ser102Asn
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Ser1043Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Ser1130Arg
Uncertain significance
Single submitter
CDON-related disorder
-
CDON p.Ser1130Asn
Uncertain significance
Single submitter
holoprosencephaly 11
- CDON p.Ser1153Arg Uncertain significance Single submitter
-
CDON p.Ser279Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Ser37Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Ser483Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CDON p.Ser932Cys Uncertain significance Single submitter
-
CDON p.Thr1038Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDON p.Thr17Lys
Uncertain significance
Single submitter
holoprosencephaly 11
- CDON p.Thr328Ile Uncertain significance Single submitter
- CDON p.Thr835Ile Uncertain significance Single submitter
- CDON p.Tyr194Cys Uncertain significance Single submitter
- CDON p.Tyr378Phe Uncertain significance Single submitter
-
CDON p.Val1155Met
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Val23Leu
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Val323Ala
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Val329Ile
Uncertain significance
Single submitter
CDON-related disorder
-
CDON p.Val375Phe
Uncertain significance
Single submitter
holoprosencephaly 11
-
CDON p.Val406Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CDON p.Val46Leu Uncertain significance Single submitter
-
CDON p.Val795Ile
Conflicting
Single submitter
holoprosencephaly 11
All CDON variants
Pathogenic 3
- p.Glu922Lys Single submitter pituitary stalk interruption syndrome ⚠
- p.Thr790Ala No assertion criteria holoprosencephaly 11 ⚠
- p.Val780Glu No assertion criteria holoprosencephaly 11
Likely pathogenic 2
- p.Pro689Ala Single submitter holoprosencephaly 11 ⚠
- p.Arg208Ter No assertion criteria coloboma
Conflicting classifications of pathogenicity 33
- c.2159-14G>A Single submitter holoprosencephaly 11
- c.77-11T>C Single submitter holoprosencephaly 11
- p.Ala660Thr Single submitter holoprosencephaly 11 ⚠
- p.Arg1187His Single submitter CDON-related disorder ⚠
- p.Arg357= Single submitter holoprosencephaly 11
- p.Arg437His Single submitter holoprosencephaly 11 ⚠
- p.Arg540Ile Single submitter holoprosencephaly 11 ⚠
- p.Arg58His Single submitter holoprosencephaly 11 ⚠
- p.Arg616Gln Single submitter Inborn genetic diseases ⚠
- p.Asn342Ser Single submitter Inborn genetic diseases ⚠
- p.Asn609Ser Single submitter Inborn genetic diseases ⚠
- p.Asn856Ser Single submitter holoprosencephaly 11 ⚠
- p.Asp1192Asn Single submitter holoprosencephaly 11 ⚠
- p.Asp1252His Single submitter Inborn genetic diseases ⚠
- p.Asp619His Single submitter Inborn genetic diseases ⚠
- p.Cys921= Single submitter holoprosencephaly 11
- p.Glu34Ala Single submitter holoprosencephaly 11 ⚠
- p.Gly1034Arg Single submitter Inborn genetic diseases ⚠
- p.Gly1201Asp Single submitter holoprosencephaly 11 ⚠
- p.His1086Gln Single submitter holoprosencephaly 11 ⚠
- p.His831Arg Single submitter Inborn genetic diseases ⚠
- p.Ile832Met Single submitter holoprosencephaly 11 ⚠
- p.Leu1065_Asn1066insLysLeuAsnGlySerLeu Single submitter holoprosencephaly 11
- p.Leu946= Single submitter holoprosencephaly 11
- p.Lys924Glu Single submitter Inborn genetic diseases ⚠
- p.Pro1254Leu Single submitter Inborn genetic diseases ⚠
- p.Pro215Arg Single submitter Inborn genetic diseases ⚠
- p.Pro264Gln Single submitter Inborn genetic diseases ⚠
- p.Pro3Ser Single submitter holoprosencephaly 11 ⚠
- p.Ser463Pro Single submitter holoprosencephaly 11 ⚠
- p.Ser875Asn Single submitter holoprosencephaly 11 ⚠
- p.Val795Ile Single submitter holoprosencephaly 11 ⚠
- p.Val952Met Single submitter holoprosencephaly 11 ⚠
Benign 159
- c.1198+135G>T Multiple submitters
- c.1198+232C>T Multiple submitters
- c.1851+100A>T Multiple submitters
- c.1851+140C>T Multiple submitters
- c.1851+256G>A Multiple submitters
- c.1852-187C>G Multiple submitters
- c.2026+158C>A Multiple submitters
- c.2026+175C>T Multiple submitters
- c.2158+60G>T Multiple submitters
- c.2362+49C>A Multiple submitters holoprosencephaly 11
- c.2363-66T>C Multiple submitters
- c.2545-42A>G Multiple submitters
- c.2651-129A>G Multiple submitters
- c.2651-136T>G Multiple submitters
- c.2995+70T>C Multiple submitters
- c.2996-48G>T Multiple submitters
- c.2996-76A>G Multiple submitters
- c.3276+63G>C Multiple submitters
- c.3277-141T>G Multiple submitters
- c.3277-204A>G Multiple submitters
- c.3277-228G>A Multiple submitters
- c.3277-243A>T Multiple submitters
- c.349+39dup Multiple submitters
- c.350-13T>C Multiple submitters holoprosencephaly 11
- c.350-19G>A Multiple submitters holoprosencephaly 11
- c.350-95G>A Multiple submitters
- c.3631+212A>G Multiple submitters
- c.496+45C>T Multiple submitters
- c.496+50T>C Multiple submitters
- c.640+12G>A Multiple submitters holoprosencephaly 11
- c.641-41G>A Multiple submitters
- c.76+21G>A Multiple submitters
- c.76+85G>C Multiple submitters
- c.77-30T>A Multiple submitters
- c.77-67G>A Multiple submitters
- c.-51A>C Multiple submitters holoprosencephaly 11
- c.-57C>T Multiple submitters holoprosencephaly 11
- c.-61-120G>A Multiple submitters
- c.-61-66C>T Multiple submitters
- c.-61-71A>G Multiple submitters
- c.*1332T>G Multiple submitters holoprosencephaly 11
- c.*140A>G Multiple submitters holoprosencephaly 11
- c.*1933A>G Multiple submitters holoprosencephaly 11
- c.*2003C>G Multiple submitters holoprosencephaly 11
- c.*2345T>A Multiple submitters holoprosencephaly 11
- c.*2347T>C Multiple submitters holoprosencephaly 11
- c.*2379T>C Multiple submitters holoprosencephaly 11
- c.*2740T>C Multiple submitters holoprosencephaly 11
- c.*2749C>G Multiple submitters holoprosencephaly 11
- c.*278T>C Multiple submitters holoprosencephaly 11
- c.*2830A>G Multiple submitters holoprosencephaly 11
- c.*3076T>A Multiple submitters holoprosencephaly 11
- c.*3490T>C Multiple submitters holoprosencephaly 11
- c.*3765C>T Multiple submitters holoprosencephaly 11
- c.*3862G>T Multiple submitters holoprosencephaly 11
- c.*3884T>G Multiple submitters holoprosencephaly 11
- c.*4052C>T Multiple submitters holoprosencephaly 11
- p.Ala535Thr Multiple submitters holoprosencephaly 11
- p.Ala679= Multiple submitters holoprosencephaly 11
- p.Ala686Val Multiple submitters holoprosencephaly 11
- p.Arg760Gln Multiple submitters holoprosencephaly 11
- p.Asn1013= Multiple submitters holoprosencephaly 11
- p.Asn1055= Multiple submitters holoprosencephaly 11
- p.Asp1196= Multiple submitters holoprosencephaly 11
- p.Cys500= Multiple submitters holoprosencephaly 11
- p.Glu162Lys Multiple submitters holoprosencephaly 11
- p.Ile1221Asn Multiple submitters holoprosencephaly 1
- p.Ile798Val Multiple submitters holoprosencephaly 11
- p.Lys66Arg Multiple submitters holoprosencephaly 11
- p.Pro110= Multiple submitters holoprosencephaly 11
- p.Pro3= Multiple submitters holoprosencephaly 11
- p.Pro432= Multiple submitters holoprosencephaly 11
- p.Thr1098= Multiple submitters holoprosencephaly 11
- p.Val1176Ile Multiple submitters holoprosencephaly 11
- p.Val1183= Multiple submitters holoprosencephaly 11
- p.Val75Ile Multiple submitters holoprosencephaly 11
- c.1552+173G>A Single submitter
- c.2027-210T>C Single submitter
- c.2027-215C>G Single submitter
- c.2027-218del Single submitter
- c.2158+161A>G Single submitter
- c.2158+201_2158+202del Single submitter
- c.2158+234A>G Single submitter
- c.2158+313T>C Single submitter
- c.2362+276A>G Single submitter
- c.2362+57_2362+62del Single submitter
- c.2363-209A>G Single submitter
- c.2545-206C>G Single submitter
- c.2650+185G>T Single submitter
- c.2773+125C>A Single submitter
- c.2995+208A>G Single submitter
- c.2995+244T>A Single submitter
- c.2996-114GTGTGCGT[2] Single submitter
- c.2996-187T>C Single submitter
- c.2996-36_2996-23del Single submitter
- c.2996-45_2996-42del Single submitter
- c.3276+179T>G Single submitter
- c.3356+163C>T Single submitter
- c.3356+210C>A Single submitter
- c.349+240G>A Single submitter
- c.349+256dup Single submitter
- c.349+309C>T Single submitter
- c.350-161del Single submitter
- c.350-234del Single submitter
- c.350-236_350-235insAA Single submitter
- c.350-330G>C Single submitter
- c.3631+9G>A Single submitter holoprosencephaly 11
- c.3632-150C>T Single submitter
- c.496+256T>C Single submitter
- c.497-244A>G Single submitter
- c.640+230G>C Single submitter
- c.640+248A>G Single submitter
- c.76+220A>G Single submitter
- c.76+243A>T Single submitter
- c.76+251del Single submitter
- c.77-179C>T Single submitter
- c.77-291A>G Single submitter
- c.928+243A>G Single submitter
- c.929-186G>A Single submitter
- c.929-326G>A Single submitter
- c.*1016C>T Single submitter holoprosencephaly 11
- c.*1061T>C Single submitter holoprosencephaly 11
- c.*12C>T Single submitter holoprosencephaly 11
- c.*1307T>G Single submitter holoprosencephaly 11
- c.*1311GTTT[2] Single submitter
- c.*1671G>A Single submitter holoprosencephaly 11
- c.*167A>G Single submitter holoprosencephaly 11
- c.*2024C>T Single submitter holoprosencephaly 11
- c.*2097G>A Single submitter holoprosencephaly 11
- c.*2264C>T Single submitter holoprosencephaly 11
- c.*2291T>C Single submitter holoprosencephaly 11
- c.*2573G>A Single submitter holoprosencephaly 11
- c.*2717C>T Single submitter holoprosencephaly 11
- c.*2734G>A Single submitter holoprosencephaly 11
- c.*2992T>C Single submitter holoprosencephaly 11
- c.*3409T>G Single submitter holoprosencephaly 11
- c.*3424T>C Single submitter holoprosencephaly 11
- c.*3514A>G Single submitter holoprosencephaly 11
- c.*3628C>G Single submitter holoprosencephaly 11
- c.*3777G>A Single submitter holoprosencephaly 11
- c.*3830G>A Single submitter holoprosencephaly 11
- c.*4000C>T Single submitter holoprosencephaly 11
- c.*4080G>A Single submitter holoprosencephaly 11
- c.*589C>T Single submitter holoprosencephaly 11
- c.*601T>A Single submitter holoprosencephaly 11
- c.*696T>C Single submitter holoprosencephaly 11
- c.*864G>A Single submitter holoprosencephaly 11
- c.*871C>T Single submitter holoprosencephaly 11
- c.*897T>C Single submitter holoprosencephaly 11
- c.*911T>C Single submitter holoprosencephaly 11
- c.*916G>A Single submitter holoprosencephaly 11
- c.*983A>G Single submitter holoprosencephaly 11
- p.Arg762= Single submitter holoprosencephaly 11
- p.Asp713= Single submitter holoprosencephaly 11
- p.Glu242= Single submitter holoprosencephaly 11
- p.Leu82= Single submitter holoprosencephaly 11
- p.Leu845= Single submitter holoprosencephaly 11
- p.Lys1052= Single submitter holoprosencephaly 11
- p.Ser1153= Single submitter holoprosencephaly 11
Benign/Likely benign 19
- c.1553-17TC[3] Multiple submitters holoprosencephaly 11
- c.1851+14G>A Multiple submitters holoprosencephaly 11
- c.2363-37GTT[3] Multiple submitters
- c.350-11A>G Multiple submitters holoprosencephaly 11
- c.*3141A>G Multiple submitters holoprosencephaly 11
- p.Arg1187Cys Multiple submitters holoprosencephaly 11
- p.Arg821His Multiple submitters holoprosencephaly 11
- p.Leu606= Multiple submitters holoprosencephaly 11
- p.Lys557= Multiple submitters holoprosencephaly 11
- p.Pro351Ala Multiple submitters holoprosencephaly 11
- p.Pro472Ala Multiple submitters holoprosencephaly 11
- p.Pro647Leu Multiple submitters holoprosencephaly 11 ⚠
- p.Ser1064Asn Multiple submitters holoprosencephaly 11
- p.Ser659= Multiple submitters holoprosencephaly 11
- p.Ser875Gly Multiple submitters holoprosencephaly 11
- p.Thr1242= Multiple submitters holoprosencephaly 11
- p.Thr684Ser Multiple submitters holoprosencephaly 11
- p.Thr956= Multiple submitters holoprosencephaly 11
- p.Val975Ile Multiple submitters holoprosencephaly 11
Likely benign 144
- c.3631+10G>A Multiple submitters holoprosencephaly 11
- p.Arg811His Multiple submitters Inborn genetic diseases
- p.Cys333= Multiple submitters holoprosencephaly 11
- p.Glu1236Lys Multiple submitters holoprosencephaly 11
- p.Glu501Lys Multiple submitters holoprosencephaly 11 ⚠
- p.His347= Multiple submitters holoprosencephaly 11
- p.Phe421= Multiple submitters holoprosencephaly 11
- p.Pro434= Multiple submitters holoprosencephaly 11
- p.Ser1064Gly Multiple submitters holoprosencephaly 11
- p.Ser455Leu Multiple submitters Inborn genetic diseases
- p.Ser636Gly Multiple submitters holoprosencephaly 11
- p.Thr630Met Multiple submitters Inborn genetic diseases ⚠
- p.Val476Ile Multiple submitters holoprosencephaly 11
- c.1198+15C>T Single submitter holoprosencephaly 11
- c.1199-346T>C Single submitter
- c.1199-8T>C Single submitter
- c.1553-16C>G Single submitter holoprosencephaly 11
- c.1553-8C>G Single submitter
- c.1553-9T>C Single submitter holoprosencephaly 11
- c.1851+224T>A Single submitter
- c.2026+15C>T Single submitter holoprosencephaly 11
- c.2158+126A>G Single submitter
- c.2158+7A>C Single submitter
- c.2159-6G>C Single submitter
- c.2159-8G>A Single submitter holoprosencephaly 11
- c.2159-9C>T Single submitter holoprosencephaly 11
- c.2544+229G>A Single submitter
- c.2544+7A>G Single submitter holoprosencephaly 11
- c.2773+18_2773+20del Single submitter holoprosencephaly 11
- c.2773+9A>G Single submitter holoprosencephaly 11
- c.2774-4C>T Single submitter holoprosencephaly 11
- c.2995+16A>G Single submitter holoprosencephaly 11
- c.3276+27C>T Single submitter
- c.3276+294C>T Single submitter
- c.3277-15C>T Single submitter holoprosencephaly 11
- c.349+14T>C Single submitter holoprosencephaly 11
- c.349+17C>T Single submitter holoprosencephaly 11
- c.349+255_349+256dup Single submitter
- c.349+3G>A Single submitter holoprosencephaly 11
- c.3631+43A>T Single submitter
- c.497-20G>T Single submitter holoprosencephaly 11
- c.640+10T>C Single submitter holoprosencephaly 11
- c.641-19A>G Single submitter holoprosencephaly 11
- c.76+14del Single submitter holoprosencephaly 11
- c.76+16G>A Single submitter holoprosencephaly 11
- c.76+211C>T Single submitter
- c.76+43T>C Single submitter
- c.77-16G>A Single submitter holoprosencephaly 11
- c.77-4G>C Single submitter holoprosencephaly 11
- c.77-9C>A Single submitter holoprosencephaly 11
- c.-48G>A Single submitter holoprosencephaly 11
- c.*1457G>A Single submitter holoprosencephaly 11
- c.*3176C>G Single submitter holoprosencephaly 11
- c.*3221A>G Single submitter holoprosencephaly 11
- c.*3919T>C Single submitter holoprosencephaly 11
- c.*3972C>G Single submitter holoprosencephaly 11
- p.Ala1215Val Single submitter Inborn genetic diseases
- p.Ala263= Single submitter holoprosencephaly 11
- p.Ala283= Single submitter holoprosencephaly 11
- p.Ala489= Single submitter
- p.Ala495= Single submitter holoprosencephaly 11
- p.Ala571Thr Single submitter Inborn genetic diseases
- p.Ala667= Single submitter holoprosencephaly 11
- p.Ala679Glu Single submitter holoprosencephaly 11
- p.Ala679Val Single submitter Inborn genetic diseases
- p.Ala769= Single submitter holoprosencephaly 11
- p.Arg744= Single submitter holoprosencephaly 11
- p.Asn363= Single submitter holoprosencephaly 11
- p.Asn570= Single submitter holoprosencephaly 11
- p.Asn64= Single submitter holoprosencephaly 11
- p.Asn820Ser Single submitter Inborn genetic diseases
- p.Asp1192= Single submitter holoprosencephaly 11
- p.Asp258= Single submitter holoprosencephaly 11
- p.Asp334= Single submitter holoprosencephaly 11
- p.Asp400= Single submitter holoprosencephaly 11
- p.Asp418= Single submitter holoprosencephaly 11
- p.Asp418Val Single submitter holoprosencephaly 11
- p.Asp603= Single submitter holoprosencephaly 11
- p.Cys1111Tyr Single submitter Inborn genetic diseases ⚠
- p.Gln177= Single submitter holoprosencephaly 11
- p.Glu771= Single submitter holoprosencephaly 11
- p.Gly1004= Single submitter holoprosencephaly 11
- p.Gly1040= Single submitter holoprosencephaly 11
- p.Gly1146Asp Single submitter Inborn genetic diseases
- p.Gly297= Single submitter holoprosencephaly 11
- p.Gly621= Single submitter holoprosencephaly 11
- p.His1033= Single submitter holoprosencephaly 11
- p.His1081Arg Single submitter Inborn genetic diseases
- p.His199Arg Single submitter Inborn genetic diseases
- p.His353Tyr Single submitter holoprosencephaly 11
- p.Ile103= Single submitter holoprosencephaly 11
- p.Ile582= Single submitter holoprosencephaly 11
- p.Ile968= Single submitter holoprosencephaly 11
- p.Leu1037= Single submitter holoprosencephaly 11
- p.Leu1171= Single submitter holoprosencephaly 11
- p.Leu27= Single submitter holoprosencephaly 11
- p.Leu318= Single submitter holoprosencephaly 11
- p.Leu36= Single submitter holoprosencephaly 11
- p.Leu62= Single submitter holoprosencephaly 11
- p.Leu68= Single submitter Inborn genetic diseases
- p.Met389Ile Single submitter Inborn genetic diseases
- p.Phe475= Single submitter
- p.Pro1172= Single submitter holoprosencephaly 11
- p.Pro1254= Single submitter holoprosencephaly 11
- p.Pro1261= Single submitter
- p.Pro249= Single submitter holoprosencephaly 11
- p.Pro264= Single submitter
- p.Pro282= Single submitter holoprosencephaly 11
- p.Pro282Leu Single submitter Inborn genetic diseases
- p.Pro29= Single submitter holoprosencephaly 11
- p.Pro411= Single submitter
- p.Pro449= Single submitter
- p.Pro555= Single submitter holoprosencephaly 11
- p.Pro560= Single submitter holoprosencephaly 11
- p.Pro697= Single submitter holoprosencephaly 11
- p.Pro7= Single submitter holoprosencephaly 11
- p.Pro727Ser Single submitter holoprosencephaly 11
- p.Pro7Leu Single submitter Inborn genetic diseases
- p.Ser1071= Single submitter holoprosencephaly 11
- p.Ser1163= Single submitter
- p.Ser1175Gly Single submitter Inborn genetic diseases
- p.Ser237= Single submitter holoprosencephaly 11
- p.Ser313= Single submitter
- p.Ser455= Single submitter holoprosencephaly 11
- p.Ser463= Single submitter holoprosencephaly 11
- p.Ser733= Single submitter holoprosencephaly 11
- p.Ser885= Single submitter holoprosencephaly 11
- p.Thr409= Single submitter holoprosencephaly 11
- p.Thr630= Single submitter
- p.Thr735= Single submitter holoprosencephaly 11
- p.Tyr877= Single submitter holoprosencephaly 11
- p.Val1159= Single submitter
- p.Val1257= Single submitter
- p.Val299= Single submitter
- p.Val75= Single submitter
- p.Val756= Single submitter holoprosencephaly 11
- p.Val918= Single submitter
- c.1553-17TC[6] No assertion criteria CDON-related disorder
- c.2996-31C>T No assertion criteria CDON-related disorder
- p.Gln895= No assertion criteria CDON-related disorder
- p.Gly1009= No assertion criteria CDON-related disorder
- p.Ile608= No assertion criteria CDON-related disorder
- p.Tyr594= No assertion criteria CDON-related disorder
- p.Val737= No assertion criteria CDON-related disorder
Uncertain significance 435
Showing the top 300 by review status; the full set is in the sitemap.
- c.3276+1G>T Multiple submitters holoprosencephaly 11
- c.640+1G>A Multiple submitters holoprosencephaly 11
- c.*1805A>G Multiple submitters holoprosencephaly 11
- c.*1816C>T Multiple submitters holoprosencephaly 11
- c.*2349A>C Multiple submitters holoprosencephaly 11
- c.*2377T>C Multiple submitters holoprosencephaly 11
- c.*2760A>G Multiple submitters holoprosencephaly 11
- p.Ala1099Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala283Val Multiple submitters holoprosencephaly 11 ⚠
- p.Ala480Val Multiple submitters holoprosencephaly 11 ⚠
- p.Ala495Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg142Trp Multiple submitters holoprosencephaly 11 ⚠
- p.Arg157Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg760Leu Multiple submitters Inborn genetic diseases ⚠
- p.Arg760Trp Multiple submitters holoprosencephaly 11 ⚠
- p.Arg783His Multiple submitters CDON-related disorder ⚠
- p.Asn1222Asp Multiple submitters Inborn genetic diseases ⚠
- p.Asp1083Glu Multiple submitters holoprosencephaly 11 ⚠
- p.Cys921Arg Multiple submitters holoprosencephaly 11 ⚠
- p.Gln1008Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu663Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly104Ser Multiple submitters holoprosencephaly 11 ⚠
- p.Gly207Asp Multiple submitters holoprosencephaly 11 ⚠
- p.Gly259Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly419Arg Multiple submitters holoprosencephaly 11 ⚠
- p.Gly692Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly747Arg Multiple submitters holoprosencephaly 11 ⚠
- p.Gly947Arg Multiple submitters holoprosencephaly 11 ⚠
- p.Ile1230Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ile407Thr Multiple submitters Holoprosencephaly spectrum disorder ⚠
- p.Ile581Val Multiple submitters holoprosencephaly 11 ⚠
- p.Ile979Thr Multiple submitters ⚠
- p.Leu1106_Glu1107insTer Multiple submitters holoprosencephaly 11
- p.Lys1123Glu Multiple submitters holoprosencephaly 11 ⚠
- p.Lys497_Tyr498insTer Multiple submitters holoprosencephaly 11
- p.Lys999fs Multiple submitters holoprosencephaly 11
- p.Phe1208fs Multiple submitters holoprosencephaly 11
- p.Pro1132Leu Multiple submitters ⚠
- p.Pro1172Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro1205Leu Multiple submitters holoprosencephaly 11 ⚠
- p.Pro249Leu Multiple submitters holoprosencephaly 11 ⚠
- p.Ser124Phe Multiple submitters Inborn genetic diseases ⚠
- p.Ser1253Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ser368Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ser807Asn Multiple submitters Inborn genetic diseases ⚠
- p.Thr1080Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr32Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr731Ala Multiple submitters holoprosencephaly 11 ⚠
- p.Thr848Arg Multiple submitters Inborn genetic diseases ⚠
- p.Thr848Met Multiple submitters holoprosencephaly 11 ⚠
- p.Tyr1046Cys Multiple submitters holoprosencephaly 11 ⚠
- p.Tyr651His Multiple submitters Inborn genetic diseases ⚠
- p.Val1082Met Multiple submitters holoprosencephaly 11 ⚠
- p.Val412Leu Multiple submitters holoprosencephaly 11 ⚠
- p.Val691Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val691Met Multiple submitters holoprosencephaly 11 ⚠
- c.1552+1G>A Single submitter
- c.2026+6T>G Single submitter holoprosencephaly 11
- c.2363-5_2363-4del Single submitter holoprosencephaly 11
- c.2650+1G>T Single submitter
- c.2773+1G>T Single submitter
- c.3276+1G>A Single submitter holoprosencephaly 11
- c.3357-2A>G Single submitter holoprosencephaly 11
- c.349+4A>G Single submitter holoprosencephaly 11
- c.350-9A>G Single submitter holoprosencephaly 11
- c.3631+11C>T Single submitter
- c.640+5G>A Single submitter
- c.76+2dup Single submitter
- c.928+1G>A Single submitter
- c.928+4A>T Single submitter Inborn genetic diseases
- c.-21T>C Single submitter holoprosencephaly 11
- c.-62+1G>A Single submitter
- c.-65C>T Single submitter holoprosencephaly 11
- c.*1062C>T Single submitter holoprosencephaly 11
- c.*1151C>T Single submitter holoprosencephaly 11
- c.*1211A>G Single submitter holoprosencephaly 11
- c.*1216G>A Single submitter holoprosencephaly 11
- c.*1327T>G Single submitter holoprosencephaly 11
- c.*136T>C Single submitter holoprosencephaly 11
- c.*1429C>T Single submitter holoprosencephaly 11
- c.*1517G>T Single submitter holoprosencephaly 11
- c.*1572A>G Single submitter holoprosencephaly 11
- c.*1589G>A Single submitter holoprosencephaly 11
- c.*1661C>T Single submitter holoprosencephaly 11
- c.*1736C>T Single submitter holoprosencephaly 11
- c.*1745A>G Single submitter holoprosencephaly 11
- c.*1800A>G Single submitter holoprosencephaly 11
- c.*1803C>T Single submitter holoprosencephaly 11
- c.*1834G>A Single submitter holoprosencephaly 11
- c.*1874G>T Single submitter holoprosencephaly 11
- c.*2057G>A Single submitter holoprosencephaly 11
- c.*2101A>G Single submitter holoprosencephaly 11
- c.*215C>T Single submitter holoprosencephaly 11
- c.*2195G>A Single submitter holoprosencephaly 11
- c.*2339T>A Single submitter holoprosencephaly 11
- c.*2351CA[16] Single submitter
- c.*2351CA[17] Single submitter
- c.*2373_*2378del Single submitter
- c.*2373C>T Single submitter holoprosencephaly 11
- c.*2375C>T Single submitter holoprosencephaly 11
- c.*2376_*2377insCATA Single submitter
- c.*2376AC[3]AT[2]A[1] Single submitter
- c.*2376AC[3]AT[3]A[1] Single submitter
- c.*2376AC[4]ATA[1] Single submitter
- c.*2379CA[6] Single submitter
- c.*2380_*2381insCACA Single submitter
- c.*2381CA[5] Single submitter
- c.*249G>A Single submitter holoprosencephaly 11
- c.*2580G>C Single submitter holoprosencephaly 11
- c.*2640A>G Single submitter holoprosencephaly 11
- c.*2698T>C Single submitter holoprosencephaly 11
- c.*2705C>T Single submitter holoprosencephaly 11
- c.*2730A>G Single submitter holoprosencephaly 11
- c.*2755A>G Single submitter holoprosencephaly 11
- c.*2769G>A Single submitter holoprosencephaly 11
- c.*2847G>T Single submitter holoprosencephaly 11
- c.*2933C>T Single submitter holoprosencephaly 11
- c.*293A>G Single submitter holoprosencephaly 11
- c.*2999C>T Single submitter holoprosencephaly 11
- c.*3060C>T Single submitter holoprosencephaly 11
- c.*3104T>C Single submitter holoprosencephaly 11
- c.*3133A>T Single submitter holoprosencephaly 11
- c.*3210A>G Single submitter holoprosencephaly 11
- c.*3235G>A Single submitter holoprosencephaly 11
- c.*3269G>C Single submitter holoprosencephaly 11
- c.*3294A>G Single submitter holoprosencephaly 11
- c.*3481C>T Single submitter holoprosencephaly 11
- c.*354G>A Single submitter holoprosencephaly 11
- c.*3610C>T Single submitter holoprosencephaly 11
- c.*3655T>C Single submitter holoprosencephaly 11
- c.*369G>A Single submitter holoprosencephaly 11
- c.*3916G>A Single submitter holoprosencephaly 11
- c.*3971G>A Single submitter holoprosencephaly 11
- c.*4007G>A Single submitter holoprosencephaly 11
- c.*4063G>T Single submitter holoprosencephaly 11
- c.*4097A>G Single submitter holoprosencephaly 11
- c.*544C>A Single submitter holoprosencephaly 11
- c.*689C>T Single submitter holoprosencephaly 11
- c.*712C>T Single submitter holoprosencephaly 11
- c.*863C>T Single submitter holoprosencephaly 11
- p.Ala1099= Single submitter holoprosencephaly 11
- p.Ala292Glu Single submitter ⚠
- p.Ala327Thr Single submitter holoprosencephaly 11 ⚠
- p.Ala327Val Single submitter holoprosencephaly 11 ⚠
- p.Ala513Ser Single submitter Inborn genetic diseases ⚠
- p.Ala526Ser Single submitter holoprosencephaly 11 ⚠
- p.Ala534Thr Single submitter Inborn genetic diseases ⚠
- p.Ala661Thr Single submitter holoprosencephaly 11 ⚠
- p.Ala686Ser Single submitter ⚠
- p.Ala745Thr Single submitter holoprosencephaly 11 ⚠
- p.Ala753Val Single submitter holoprosencephaly 11 ⚠
- p.Ala985Thr Single submitter holoprosencephaly 11 ⚠
- p.Arg1079Thr Single submitter Inborn genetic diseases ⚠
- p.Arg1112Gln Single submitter holoprosencephaly 11 ⚠
- p.Arg1112Ter Single submitter holoprosencephaly 11
- p.Arg1115Leu Single submitter Inborn genetic diseases ⚠
- p.Arg1115Ter Single submitter
- p.Arg1262Trp Single submitter holoprosencephaly 11 ⚠
- p.Arg236His Single submitter holoprosencephaly 11 ⚠
- p.Arg270Met Single submitter Inborn genetic diseases ⚠
- p.Arg458Gln Single submitter holoprosencephaly 11 ⚠
- p.Arg458Gly Single submitter holoprosencephaly 11 ⚠
- p.Arg540Thr Single submitter holoprosencephaly 11 ⚠
- p.Arg616Ter Single submitter Inborn genetic diseases
- p.Arg672Ter Single submitter
- p.Arg744Gln Single submitter Inborn genetic diseases ⚠
- p.Arg744Trp Single submitter holoprosencephaly 11 ⚠
- p.Arg806Trp Single submitter Inborn genetic diseases ⚠
- p.Arg825His Single submitter holoprosencephaly 11 ⚠
- p.Arg927Cys Single submitter holoprosencephaly 11 ⚠
- p.Arg992Cys Single submitter holoprosencephaly 11 ⚠
- p.Asn1055Ser Single submitter holoprosencephaly 11 ⚠
- p.Asn1062Thr Single submitter CDON-related disorder ⚠
- p.Asn1066Asp Single submitter Inborn genetic diseases ⚠
- p.Asn1117Asp Single submitter holoprosencephaly 11 ⚠
- p.Asn147Lys Single submitter holoprosencephaly 11 ⚠
- p.Asn167Lys Single submitter ⚠
- p.Asn294Ser Single submitter holoprosencephaly 11 ⚠
- p.Asn348Ser Single submitter holoprosencephaly 11 ⚠
- p.Asn427Ser Single submitter holoprosencephaly 11 ⚠
- p.Asn504Ser Single submitter holoprosencephaly 11 ⚠
- p.Asn523Ser Single submitter CDON-related disorder ⚠
- p.Asn64Lys Single submitter ⚠
- p.Asn746fs Single submitter holoprosencephaly 11
- p.Asn856del Single submitter holoprosencephaly 11
- p.Asn873Lys Single submitter ⚠
- p.Asn908Ser Single submitter Inborn genetic diseases ⚠
- p.Asp1011Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp1104= Single submitter holoprosencephaly 11
- p.Asp1167His Single submitter holoprosencephaly 11 ⚠
- p.Asp120Gly Single submitter holoprosencephaly 11 ⚠
- p.Asp185Asn Single submitter Inborn genetic diseases ⚠
- p.Asp258Glu Single submitter ⚠
- p.Asp334His Single submitter holoprosencephaly 11 ⚠
- p.Asp383His Single submitter Inborn genetic diseases ⚠
- p.Asp440Glu Single submitter holoprosencephaly 11 ⚠
- p.Asp603Gly Single submitter holoprosencephaly 11 ⚠
- p.Asp713Gly Single submitter intellectual disability ⚠
- p.Asp840Asn Single submitter intellectual disability ⚠
- p.Cys1108Tyr Single submitter holoprosencephaly 11 ⚠
- p.Cys1160Arg Single submitter Inborn genetic diseases ⚠
- p.Cys1168Ser Single submitter Inborn genetic diseases ⚠
- p.Cys243Gly Single submitter ⚠
- p.Cys987Phe Single submitter Inborn genetic diseases ⚠
- p.Cys987Ter Single submitter
- p.Cys9Gly Single submitter holoprosencephaly 11 ⚠
- p.Gln1259Leu Single submitter holoprosencephaly 11 ⚠
- p.Gln319fs Single submitter holoprosencephaly 11
- p.Gln379Arg Single submitter ⚠
- p.Gln379Ter Single submitter
- p.Gln461Leu Single submitter Inborn genetic diseases ⚠
- p.Gln479Glu Single submitter holoprosencephaly 11 ⚠
- p.Gln488Arg Single submitter ⚠
- p.Gln488His Single submitter Inborn genetic diseases ⚠
- p.Gln492Lys Single submitter Inborn genetic diseases ⚠
- p.Gln510Arg Single submitter Inborn genetic diseases ⚠
- p.Gln587fs Single submitter holoprosencephaly 11
- p.Gln665His Single submitter holoprosencephaly 11 ⚠
- p.Gln814Arg Single submitter ⚠
- p.Gln814His Single submitter holoprosencephaly 11 ⚠
- p.Glu1148Gly Single submitter holoprosencephaly 11 ⚠
- p.Glu184Asp Single submitter holoprosencephaly 11 ⚠
- p.Glu471Ala Single submitter Inborn genetic diseases ⚠
- p.Glu493Asp Single submitter holoprosencephaly 11 ⚠
- p.Glu652Asp Single submitter Inborn genetic diseases ⚠
- p.Glu676Gly Single submitter holoprosencephaly 11 ⚠
- p.Glu757Lys Single submitter holoprosencephaly 11 ⚠
- p.Glu781= Single submitter
- p.Glu803Val Single submitter holoprosencephaly 11 ⚠
- p.Glu883Gln Single submitter Inborn genetic diseases ⚠
- p.Glu914Ala Single submitter ⚠
- p.Glu922Ter Single submitter
- p.Gly1004Ala Single submitter holoprosencephaly 11 ⚠
- p.Gly1004Arg Single submitter Inborn genetic diseases ⚠
- p.Gly1004fs Single submitter
- p.Gly1014Arg Single submitter holoprosencephaly 11 ⚠
- p.Gly1045Ser Single submitter holoprosencephaly 11 ⚠
- p.Gly1067Ter Single submitter
- p.Gly1068Glu Single submitter CDON-related disorder ⚠
- p.Gly1072Arg Single submitter CDON-related disorder ⚠
- p.Gly1146Ser Single submitter Inborn genetic diseases ⚠
- p.Gly1169Ser Single submitter CDON-related disorder ⚠
- p.Gly1201= Single submitter holoprosencephaly 11
- p.Gly122fs Single submitter
- p.Gly1237Val Single submitter holoprosencephaly 11 ⚠
- p.Gly293Arg Single submitter Inborn genetic diseases ⚠
- p.Gly297Glu Single submitter ⚠
- p.Gly326Cys Single submitter ⚠
- p.Gly369Glu Single submitter Inborn genetic diseases ⚠
- p.Gly393Arg Single submitter holoprosencephaly 11 ⚠
- p.Gly401Asp Single submitter Inborn genetic diseases ⚠
- p.Gly401Ser Single submitter holoprosencephaly 11 ⚠
- p.Gly443Arg Single submitter holoprosencephaly 11 ⚠
- p.Gly481Asp Single submitter ⚠
- p.Gly481Val Single submitter ⚠
- p.Gly573Asp Single submitter holoprosencephaly 11 ⚠
- p.Gly573Ser Single submitter Inborn genetic diseases ⚠
- p.Gly604Cys Single submitter ⚠
- p.Gly605Val Single submitter ⚠
- p.Gly65Arg Single submitter holoprosencephaly 11 ⚠
- p.Gly692Val Single submitter ⚠
- p.Gly748Asp Single submitter Inborn genetic diseases ⚠
- p.Gly748Ser Single submitter holoprosencephaly 11 ⚠
- p.Gly788Asp Single submitter Inborn genetic diseases ⚠
- p.Gly817Arg Single submitter holoprosencephaly 11 ⚠
- p.Gly911Glu Single submitter Inborn genetic diseases ⚠
- p.Gly950Glu Single submitter Inborn genetic diseases ⚠
- p.Gly953= Single submitter holoprosencephaly 11
- p.His1048Gln Single submitter ⚠
- p.His1081Gln Single submitter holoprosencephaly 11 ⚠
- p.His1088Arg Single submitter holoprosencephaly 11 ⚠
- p.His127Asp Single submitter holoprosencephaly 11 ⚠
- p.His199Leu Single submitter Inborn genetic diseases ⚠
- p.His227Arg Single submitter Inborn genetic diseases ⚠
- p.His311Asn Single submitter Inborn genetic diseases ⚠
- p.His311Tyr Single submitter Inborn genetic diseases ⚠
- p.His358Leu Single submitter holoprosencephaly 11 ⚠
- p.His589Tyr Single submitter Inborn genetic diseases ⚠
- p.His63Arg Single submitter Inborn genetic diseases ⚠
- p.His717Tyr Single submitter holoprosencephaly 11 ⚠
- p.His831Leu Single submitter holoprosencephaly 11 ⚠
- p.His831Tyr Single submitter Inborn genetic diseases ⚠
- p.His889Asn Single submitter ⚠
- p.Ile1221Thr Single submitter holoprosencephaly 11 ⚠
- p.Ile1223Leu Single submitter Inborn genetic diseases ⚠
- p.Ile262Val Single submitter holoprosencephaly 11 ⚠
- p.Ile367Phe Single submitter ⚠
- p.Ile386Met Single submitter ⚠
- p.Ile386Thr Single submitter Inborn genetic diseases ⚠
- p.Ile693Met Single submitter Inborn genetic diseases ⚠
- p.Ile773Phe Single submitter holoprosencephaly 11 ⚠
- p.Ile798Met Single submitter Inborn genetic diseases ⚠
- p.Ile832Asn Single submitter holoprosencephaly 11 ⚠
- p.Ile859Val Single submitter Inborn genetic diseases ⚠
- p.Ile891Thr Single submitter holoprosencephaly 11 ⚠
- p.Ile920Val Single submitter holoprosencephaly 11 ⚠
- p.Leu1042Arg Single submitter ⚠
- p.Leu1147Val Single submitter Inborn genetic diseases ⚠
- p.Leu16Phe Single submitter holoprosencephaly 11 ⚠
- p.Leu241Val Single submitter Inborn genetic diseases ⚠