DHCR7 — 1078 ClinVar variants
All ClinVar germline DHCR7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 326 flagged for review →
46 Pathogenic · 91 Pathogenic/Likely pathogenic · 144 Likely pathogenic · 101 Conflicting · 32 Benign · 7 Benign/Likely benign · 338 Likely benign · 319 Uncertain significance
Full DHCR7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 326
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 10
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
DHCR7 p.Ala257Gly
Pathogenic/Likely pathogenic
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Ser169Leu
Pathogenic/Likely pathogenic
Multiple submitters
DHCR7-related disorder
-
DHCR7 p.Thr289Ile
Pathogenic/Likely pathogenic
Multiple submitters
DHCR7-related disorder
-
DHCR7 p.Thr93Met
Pathogenic/Likely pathogenic
Multiple submitters
DHCR7-related disorder
-
DHCR7 p.Ala247Ser
Likely pathogenic
Single submitter
Smith-Lemli-Opitz syndrome
- DHCR7 p.Asn274Ser Likely pathogenic Single submitter
-
DHCR7 p.Asn274Thr
Likely pathogenic
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Pro467Ser
Likely pathogenic
Single submitter
Smith-Lemli-Opitz syndrome
- DHCR7 p.Thr364Ala Likely pathogenic Single submitter
-
DHCR7 p.Trp182Leu
Likely pathogenic
Single submitter
Smith-Lemli-Opitz syndrome
Predictors agree, ClinVar conflicts 40
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
DHCR7 p.Ala162Val
Conflicting
Single submitter
Inborn genetic diseases
-
DHCR7 p.Ala206Thr
Conflicting
Single submitter
Inborn genetic diseases
-
DHCR7 p.Ala24Ser
Conflicting
Single submitter
Inborn genetic diseases
-
DHCR7 p.Ala67Thr
Conflicting
Single submitter
Inborn genetic diseases
-
DHCR7 p.Arg228Gln
Conflicting
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Arg228Trp
Conflicting
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Arg362Cys
Conflicting
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Arg362His
Conflicting
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Arg367Cys
Conflicting
Single submitter
Inborn genetic diseases
-
DHCR7 p.Arg446Pro
Conflicting
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Arg446Trp
Conflicting
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Arg469Pro
Conflicting
Single submitter
DHCR7-related disorder
-
DHCR7 p.Glu224Lys
Conflicting
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Glu288Lys
Conflicting
Single submitter
Inborn genetic diseases
-
DHCR7 p.Gly147Ser
Conflicting
Single submitter
Inborn genetic diseases
-
DHCR7 p.Gly303Trp
Conflicting
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Gly424Ser
Conflicting
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Gly425Ser
Conflicting
Single submitter
Inborn genetic diseases
-
DHCR7 p.Gly70Ser
Conflicting
Single submitter
Inborn genetic diseases
-
DHCR7 p.His405Gln
Conflicting
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.His442Arg
Conflicting
Single submitter
Smith-Lemli-Opitz syndrome
- DHCR7 p.Ile297Leu Conflicting Single submitter
-
DHCR7 p.Leu341Pro
Conflicting
Single submitter
Inborn genetic diseases
-
DHCR7 p.Lys198Glu
Conflicting
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Phe361Leu
Conflicting
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Phe406Leu
Conflicting
Single submitter
Inborn genetic diseases
-
DHCR7 p.Phe475Ser
Conflicting
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Pro10Ala
Conflicting
Single submitter
Inborn genetic diseases
-
DHCR7 p.Tyr219Asp
Conflicting
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Tyr462His
Conflicting
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Val126Ile
Conflicting
Single submitter
Inborn genetic diseases
-
DHCR7 p.Val134Leu
Conflicting
Single submitter
Inborn genetic diseases
-
DHCR7 p.Val18Ile
Conflicting
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Val273Gly
Conflicting
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Val326Gly
Conflicting
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Val338Met
Conflicting
Single submitter
Inborn genetic diseases
-
DHCR7 p.Val340Ile
Conflicting
Single submitter
Inborn genetic diseases
-
DHCR7 p.Val402Met
Conflicting
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Val43Ile
Conflicting
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Val76Ile
Conflicting
Single submitter
Smith-Lemli-Opitz syndrome
Predictors lean, ClinVar uncertain 159
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 159
-
DHCR7 p.Ala12Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DHCR7 p.Ala184Thr
Uncertain significance
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Ala24Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DHCR7 p.Ala24Thr
Uncertain significance
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Ala257Val
Uncertain significance
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Ala278Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DHCR7 p.Ala385Thr
Uncertain significance
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Ala41Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DHCR7 p.Ala464Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DHCR7 p.Arg260Gln
Uncertain significance
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Arg260Gly
Uncertain significance
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Arg457Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DHCR7 p.Arg81Trp
Uncertain significance
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Asn20Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DHCR7 p.Asn218Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DHCR7 p.Asn226Asp
Uncertain significance
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Asn240Ser
Uncertain significance
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Cys209Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DHCR7 p.Gln144Arg
Uncertain significance
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Glu460Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DHCR7 p.Gly424Cys
Uncertain significance
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Ile279Val
Uncertain significance
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Ile433Val
Uncertain significance
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Ile44Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DHCR7 p.Ile75Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DHCR7 p.Lys13Glu
Uncertain significance
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Pro335Leu
Uncertain significance
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Ser254Pro
Uncertain significance
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Ser5Leu
Uncertain significance
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Thr112Met
Uncertain significance
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Thr212Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DHCR7 p.Thr319Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DHCR7 p.Thr334Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DHCR7 p.Trp248Arg
Uncertain significance
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Trp313Cys
Uncertain significance
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Val140Met
Uncertain significance
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Val191Ile
Uncertain significance
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Val246Ile
Uncertain significance
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Val275Ile
Uncertain significance
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Val409Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DHCR7 p.Val54Ile
Uncertain significance
Multiple submitters
Smith-Lemli-Opitz syndrome
- DHCR7 p.Ala133Ser Uncertain significance Single submitter
- DHCR7 p.Ala137Ser Uncertain significance Single submitter
- DHCR7 p.Ala160Ser Uncertain significance Single submitter
-
DHCR7 p.Ala160Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHCR7 p.Ala162Thr
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Ala206Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHCR7 p.Ala421Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHCR7 p.Ala465Ser
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Ala465Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHCR7 p.Ala50Thr
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Ala80Val
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Arg260Trp
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Asp234His
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Asp300Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHCR7 p.Asp310His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHCR7 p.Asp36Asn
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Asp411Asn
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Cys311Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHCR7 p.Gln26Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHCR7 p.Gln277Arg
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
- DHCR7 p.Gln28His Uncertain significance Single submitter
- DHCR7 p.Gln321Leu Uncertain significance Single submitter
- DHCR7 p.Glu131Gln Uncertain significance Single submitter
- DHCR7 p.Glu379Lys Uncertain significance Single submitter
- DHCR7 p.Gly230Arg Uncertain significance Single submitter
-
DHCR7 p.Gly372Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- DHCR7 p.Gly410Asp Uncertain significance Single submitter
-
DHCR7 p.Gly456Val
Uncertain significance
Single submitter
Inborn genetic diseases
- DHCR7 p.His155Arg Uncertain significance Single submitter
-
DHCR7 p.His163Arg
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.His391Pro
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.His405Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- DHCR7 p.His442Gln Uncertain significance Single submitter
-
DHCR7 p.His442Tyr
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
- DHCR7 p.Ile178Met Uncertain significance Single submitter
- DHCR7 p.Ile251Asn Uncertain significance Single submitter
-
DHCR7 p.Ile295Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- DHCR7 p.Ile295Thr Uncertain significance Single submitter
-
DHCR7 p.Ile370Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHCR7 p.Ile378Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHCR7 p.Leu102Phe
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Leu15Pro
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Leu181Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHCR7 p.Leu187Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- DHCR7 p.Leu317Arg Uncertain significance Single submitter
-
DHCR7 p.Leu395Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- DHCR7 p.Leu46Arg Uncertain significance Single submitter
-
DHCR7 p.Lys11Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHCR7 p.Lys13Arg
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
- DHCR7 p.Met220Leu Uncertain significance Single submitter
-
DHCR7 p.Met221Arg
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Met270Thr
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Phe117Ile
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Phe201Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHCR7 p.Phe216Val
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Phe255Cys
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Phe52Leu
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Pro179Leu
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
- DHCR7 p.Pro227Thr Uncertain significance Single submitter
- DHCR7 p.Pro335Ser Uncertain significance Single submitter
-
DHCR7 p.Pro375Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHCR7 p.Pro91Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- DHCR7 p.Ser113Cys Uncertain significance Single submitter
-
DHCR7 p.Ser166Ala
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Ser192Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHCR7 p.Ser264Asn
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Thr101Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHCR7 p.Thr112Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHCR7 p.Thr193Ser
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
- DHCR7 p.Thr319Lys Uncertain significance Single submitter
-
DHCR7 p.Thr441Ala
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Thr463Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHCR7 p.Trp158Cys
Uncertain significance
Single submitter
DHCR7-related disorder
-
DHCR7 p.Trp286Cys
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Trp459Arg
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Tyr217Cys
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Tyr305Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHCR7 p.Tyr455Phe
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Tyr468His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHCR7 p.Val108Leu
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Val134Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHCR7 p.Val139Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHCR7 p.Val139Leu
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
- DHCR7 p.Val197Ala Uncertain significance Single submitter
- DHCR7 p.Val281Ala Uncertain significance Single submitter
- DHCR7 p.Val402Ala Uncertain significance Single submitter
-
DHCR7 p.Val72Met
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Ala133Thr
Uncertain significance
No assertion criteria
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Ala337Val
Uncertain significance
No assertion criteria
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Ala97Ser
Uncertain significance
No assertion criteria
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Arg443Ser
Uncertain significance
No assertion criteria
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Asp16Val
Uncertain significance
No assertion criteria
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Cys422Tyr
Uncertain significance
No assertion criteria
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Gln28Arg
Uncertain significance
No assertion criteria
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Gln357Pro
Uncertain significance
No assertion criteria
Smith-Lemli-Opitz syndrome
-
DHCR7 p.His391Gln
Uncertain significance
No assertion criteria
Smith-Lemli-Opitz syndrome
-
DHCR7 p.His426Leu
Uncertain significance
No assertion criteria
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Ile350Val
Uncertain significance
No assertion criteria
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Ile474Leu
Uncertain significance
No assertion criteria
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Leu109Phe
Uncertain significance
No assertion criteria
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Leu152Phe
Uncertain significance
No assertion criteria
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Leu187Val
Uncertain significance
No assertion criteria
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Leu317Val
Uncertain significance
No assertion criteria
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Leu320Pro
Uncertain significance
No assertion criteria
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Leu325Val
Uncertain significance
No assertion criteria
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Leu342Pro
Uncertain significance
No assertion criteria
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Leu445Pro
Uncertain significance
No assertion criteria
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Phe475Cys
Uncertain significance
No assertion criteria
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Pro315Leu
Uncertain significance
No assertion criteria
Smith-Lemli-Opitz syndrome
Predictors split 117
The independent predictors disagree with each other — read with care.
-
DHCR7 p.Ala247Val
Pathogenic/Likely pathogenic
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Ala97Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DHCR7 p.Arg363His
Uncertain significance
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Arg457Trp
Uncertain significance
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Arg461Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DHCR7 p.Arg469Cys
Uncertain significance
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Arg469His
Uncertain significance
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Asn287Lys
Pathogenic/Likely pathogenic
Multiple submitters
DHCR7-related disorder
-
DHCR7 p.Asp310Asn
Uncertain significance
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Asp365Tyr
Uncertain significance
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Asp74Asn
Uncertain significance
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Cys183Tyr
Likely pathogenic
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Cys380Tyr
Pathogenic/Likely pathogenic
Multiple submitters
Inborn genetic diseases
-
DHCR7 p.Gly344Asp
Uncertain significance
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Gly347Ser
Pathogenic/Likely pathogenic
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Gly387Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DHCR7 p.Gly423Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DHCR7 p.Gly456Ser
Uncertain significance
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Gly78Arg
Uncertain significance
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.His119Leu
Pathogenic/Likely pathogenic
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.His301Arg
Pathogenic/Likely pathogenic
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.His390Tyr
Uncertain significance
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Ile229Met
Uncertain significance
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Leu470Gln
Pathogenic/Likely pathogenic
Multiple submitters
Inborn genetic diseases
-
DHCR7 p.Met196Thr
Uncertain significance
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Met220Ile
Uncertain significance
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Met220Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DHCR7 p.Phe174Ser
Pathogenic/Likely pathogenic
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Phe174Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DHCR7 p.Phe57Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DHCR7 p.Ser5Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DHCR7 p.Trp182Cys
Pathogenic/Likely pathogenic
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Trp37Gly
Uncertain significance
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Tyr316Cys
Uncertain significance
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Tyr324His
Pathogenic/Likely pathogenic
Multiple submitters
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Val326Leu
Pathogenic/Likely pathogenic
Multiple submitters
DHCR7-related disorder
-
DHCR7 p.Ala195Thr
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Ala247Thr
Conflicting
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Ala256Ser
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Ala256Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- DHCR7 p.Ala256Val Uncertain significance Single submitter
-
DHCR7 p.Ala452Thr
Conflicting
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Arg31Cys
Conflicting
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Arg31His
Conflicting
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Arg363Cys
Conflicting
Single submitter
Inborn genetic diseases
- DHCR7 p.Arg363Leu Uncertain significance Single submitter
-
DHCR7 p.Arg450His
Conflicting
Single submitter
Differences in sex development
-
DHCR7 p.Arg450Leu
Pathogenic
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Asn268Ser
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
- DHCR7 p.Asp116Asn Uncertain significance Single submitter
-
DHCR7 p.Asp116Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHCR7 p.Asp175Asn
Conflicting
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Asp359Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHCR7 p.Asp386His
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Asp458Gly
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Cys444Tyr
Likely pathogenic
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Cys66Tyr
Likely pathogenic
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Gln107His
Conflicting
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Gln388Pro
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
- DHCR7 p.Gln98Pro Uncertain significance Single submitter
-
DHCR7 p.Glu261Gly
Conflicting
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Glu261Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHCR7 p.Gly128Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHCR7 p.Gly213Asp
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Gly30Ala
Conflicting
Single submitter
Inborn genetic diseases
-
DHCR7 p.Gly30Asp
Likely pathogenic
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Gly30Ser
Conflicting
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Gly344Arg
Likely pathogenic
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Gly372Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- DHCR7 p.Gly78Glu Uncertain significance Single submitter
-
DHCR7 p.His119Arg
Conflicting
Single submitter
Inborn genetic diseases
- DHCR7 p.His301Gln Uncertain significance Single submitter
-
DHCR7 p.His390Gln
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Ile178Phe
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Ile438Met
Uncertain significance
Single submitter
Inborn genetic diseases
- DHCR7 p.Lys210Glu Uncertain significance Single submitter
-
DHCR7 p.Met221Val
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Met436Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHCR7 p.Phe106Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHCR7 p.Ser192Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- DHCR7 p.Ser254Ala Uncertain significance Single submitter
-
DHCR7 p.Ser381Pro
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Thr334Ser
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Thr364Met
Conflicting
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Thr77Ile
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Trp167Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHCR7 p.Trp232Arg
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Tyr100Cys
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Tyr125Cys
Likely pathogenic
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Tyr125His
Likely pathogenic
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Tyr219His
Likely pathogenic
Single submitter
Small for gestational age
-
DHCR7 p.Tyr327His
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Val104Phe
Uncertain significance
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Val273Ile
Conflicting
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Val330Met
Conflicting
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Val396Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHCR7 p.Val466Ala
Conflicting
Single submitter
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Ala150Val
Uncertain significance
No assertion criteria
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Cys209Ser
Uncertain significance
No assertion criteria
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Cys66Gly
Uncertain significance
No assertion criteria
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Glu379Gly
Uncertain significance
No assertion criteria
Smith-Lemli-Opitz syndrome
-
DHCR7 p.His119Asp
Uncertain significance
No assertion criteria
Smith-Lemli-Opitz syndrome
- DHCR7 p.His299Tyr Likely pathogenic No assertion criteria
-
DHCR7 p.Ile438Thr
Uncertain significance
No assertion criteria
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Leu369Phe
Likely benign
No assertion criteria
intellectual disability
-
DHCR7 p.Phe285Tyr
Uncertain significance
No assertion criteria
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Pro115Arg
Uncertain significance
No assertion criteria
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Pro123Thr
Uncertain significance
No assertion criteria
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Pro136Leu
Uncertain significance
No assertion criteria
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Ser392Gly
Uncertain significance
No assertion criteria
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Trp182Ser
Uncertain significance
No assertion criteria
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Tyr217His
Uncertain significance
No assertion criteria
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Tyr418His
Uncertain significance
No assertion criteria
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Tyr432Phe
Uncertain significance
No assertion criteria
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Tyr55His
Uncertain significance
No assertion criteria
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Val191Phe
Uncertain significance
No assertion criteria
Smith-Lemli-Opitz syndrome
-
DHCR7 p.Val377Asp
Uncertain significance
No assertion criteria
Smith-Lemli-Opitz syndrome
All DHCR7 variants
Pathogenic 46
- p.Arg352Gln Multiple submitters DHCR7-related disorder
- p.Arg352Trp Multiple submitters Smith-Lemli-Opitz syndrome
- p.Arg404Cys Multiple submitters DHCR7-related disorder
- p.Asn240fs Multiple submitters Smith-Lemli-Opitz syndrome
- p.Gly410Ser Multiple submitters Inborn genetic diseases
- p.Pro51Ser Multiple submitters Smith-Lemli-Opitz syndrome
- p.Thr154Met Multiple submitters DHCR7-related disorder
- c.322-1_334del Single submitter Smith-Lemli-Opitz syndrome
- c.831+1G>A Single submitter Smith-Lemli-Opitz syndrome
- c.964-2A>C Single submitter Smith-Lemli-Opitz syndrome
- p.Arg404fs Single submitter Smith-Lemli-Opitz syndrome
- p.Arg450Leu Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Asn141fs Single submitter Inborn genetic diseases
- p.Asn214_Phe215insTer Single submitter Smith-Lemli-Opitz syndrome
- p.Asn274_Val275del Single submitter Smith-Lemli-Opitz syndrome
- p.Asp234delinsGluValTer Single submitter Smith-Lemli-Opitz syndrome
- p.Asp458fs Single submitter Smith-Lemli-Opitz syndrome
- p.Gln149Ter Single submitter
- p.Gln6Ter Single submitter Smith-Lemli-Opitz syndrome
- p.Glu224fs Single submitter Smith-Lemli-Opitz syndrome
- p.Gly309Ser Single submitter Smith-Lemli-Opitz syndrome
- p.Gly30fs Single submitter Smith-Lemli-Opitz syndrome
- p.Gly344fs Single submitter Smith-Lemli-Opitz syndrome
- p.Leu250fs Single submitter Smith-Lemli-Opitz syndrome
- p.Leu317fs Single submitter Smith-Lemli-Opitz syndrome
- p.Leu360Pro Single submitter Smith-Lemli-Opitz syndrome
- p.Lys293Ter Single submitter Smith-Lemli-Opitz syndrome
- p.Lys454Ter Single submitter Smith-Lemli-Opitz syndrome
- p.Met1Leu Single submitter Smith-Lemli-Opitz syndrome
- p.Phe235Ser Single submitter Smith-Lemli-Opitz syndrome
- p.Phe431_Met436delinsLeu Single submitter Smith-Lemli-Opitz syndrome
- p.Pro329Leu Single submitter Smith-Lemli-Opitz syndrome
- p.Pro335fs Single submitter Smith-Lemli-Opitz syndrome
- p.Ser83Ter Single submitter Smith-Lemli-Opitz syndrome
- p.Thr89fs Single submitter Smith-Lemli-Opitz syndrome
- p.Trp182del Single submitter Smith-Lemli-Opitz syndrome
- p.Trp371Ter Single submitter Smith-Lemli-Opitz syndrome
- p.Tyr305Ter Single submitter Smith-Lemli-Opitz syndrome
- p.Tyr324fs Single submitter Smith-Lemli-Opitz syndrome
- p.Tyr455Ter Single submitter Smith-Lemli-Opitz syndrome
- p.Tyr468Ter Single submitter Smith-Lemli-Opitz syndrome
- p.Val338fs Single submitter Smith-Lemli-Opitz syndrome
- c.99_194del No assertion criteria Smith-Lemli-Opitz syndrome
- p.Arg228fs No assertion criteria Smith-Lemli-Opitz syndrome
- p.Phe255fs No assertion criteria Smith-Lemli-Opitz syndrome
- p.Trp248Cys No assertion criteria Smith-Lemli-Opitz syndrome
Pathogenic/Likely pathogenic 91
- c.385_412+5del Multiple submitters Smith-Lemli-Opitz syndrome
- c.831+1G>T Multiple submitters Smith-Lemli-Opitz syndrome
- c.831+2T>A Multiple submitters Smith-Lemli-Opitz syndrome
- c.963+1G>T Multiple submitters Smith-Lemli-Opitz syndrome
- c.963+2T>G Multiple submitters Smith-Lemli-Opitz syndrome
- c.964-1G>C Multiple submitters Cystic renal disease
- c.964-1G>T Multiple submitters Smith-Lemli-Opitz syndrome
- p.Ala247Val Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Ala257Gly Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Arg242Cys Multiple submitters DHCR7-related disorder
- p.Arg242His Multiple submitters Smith-Lemli-Opitz syndrome
- p.Arg443Cys Multiple submitters DHCR7-related disorder
- p.Arg443His Multiple submitters Smith-Lemli-Opitz syndrome
- p.Arg443Pro Multiple submitters Smith-Lemli-Opitz syndrome
- p.Arg446Gln Multiple submitters Inborn genetic diseases
- p.Arg450fs Multiple submitters Smith-Lemli-Opitz syndrome
- p.Asn274Lys Multiple submitters Smith-Lemli-Opitz syndrome
- p.Asn287Lys Multiple submitters DHCR7-related disorder ⚠
- p.Asn407Ser Multiple submitters Smith-Lemli-Opitz syndrome
- p.Asn407Tyr Multiple submitters Smith-Lemli-Opitz syndrome
- p.Asp16fs Multiple submitters Smith-Lemli-Opitz syndrome
- p.Cys380Arg Multiple submitters Smith-Lemli-Opitz syndrome
- p.Cys380Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Cys451Arg Multiple submitters Smith-Lemli-Opitz syndrome
- p.Gln130Ter Multiple submitters Smith-Lemli-Opitz syndrome
- p.Gln26Ter Multiple submitters Smith-Lemli-Opitz syndrome
- p.Gln28Ter Multiple submitters Smith-Lemli-Opitz syndrome
- p.Gln331Ter Multiple submitters Smith-Lemli-Opitz syndrome
- p.Gln63fs Multiple submitters Smith-Lemli-Opitz syndrome
- p.Gln63Ter Multiple submitters Smith-Lemli-Opitz syndrome
- p.Gln98Ter Multiple submitters Inborn genetic diseases
- p.Glu288Ter Multiple submitters Smith-Lemli-Opitz syndrome
- p.Glu448Lys Multiple submitters DHCR7-related disorder
- p.Gly147Asp Multiple submitters Smith-Lemli-Opitz syndrome
- p.Gly244Arg Multiple submitters DHCR7-related disorder
- p.Gly303Arg Multiple submitters Inborn genetic diseases
- p.Gly347Ser Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Gly366Val Multiple submitters Smith-Lemli-Opitz syndrome
- p.Gly410Arg Multiple submitters Smith-Lemli-Opitz syndrome
- p.His119fs Multiple submitters Smith-Lemli-Opitz syndrome
- p.His119Leu Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.His301Arg Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.His356fs Multiple submitters Smith-Lemli-Opitz syndrome
- p.His405fs Multiple submitters Smith-Lemli-Opitz syndrome
- p.Leu109Pro Multiple submitters DHCR7-related disorder
- p.Leu157Pro Multiple submitters Fetal anomalies with a likely genetic cause
- p.Leu360fs Multiple submitters Smith-Lemli-Opitz syndrome
- p.Leu470Gln Multiple submitters Inborn genetic diseases ⚠
- p.Leu99Pro Multiple submitters Smith-Lemli-Opitz syndrome
- p.Lys120fs Multiple submitters Smith-Lemli-Opitz syndrome
- p.Met1Ile Multiple submitters Smith-Lemli-Opitz syndrome
- p.Met1Val Multiple submitters DHCR7-related disorder
- p.Met270Val Multiple submitters Smith-Lemli-Opitz syndrome
- p.Phe174Ser Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Phe284Leu Multiple submitters Inborn genetic diseases
- p.Phe302Leu Multiple submitters Inborn genetic diseases
- p.Pro243Arg Multiple submitters DHCR7-related disorder
- p.Ser169Leu Multiple submitters DHCR7-related disorder ⚠
- p.Ser192Phe Multiple submitters Smith-Lemli-Opitz syndrome
- p.Ser397Leu Multiple submitters DHCR7-related disorder
- p.Thr154Arg Multiple submitters Inborn genetic diseases
- p.Thr212fs Multiple submitters Smith-Lemli-Opitz syndrome
- p.Thr289Ile Multiple submitters DHCR7-related disorder ⚠
- p.Thr93Met Multiple submitters DHCR7-related disorder ⚠
- p.Trp151Ter Multiple submitters DHCR7-related disorder
- p.Trp182Cys Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Trp182Ter Multiple submitters Smith-Lemli-Opitz syndrome
- p.Trp232Ter Multiple submitters Smith-Lemli-Opitz syndrome
- p.Trp248Ter Multiple submitters Smith-Lemli-Opitz syndrome
- p.Trp290Ter Multiple submitters Smith-Lemli-Opitz syndrome
- p.Trp304Ter Multiple submitters Smith-Lemli-Opitz syndrome
- p.Trp313Ter Multiple submitters Smith-Lemli-Opitz syndrome
- p.Trp37Ter Multiple submitters DHCR7-related disorder
- p.Trp459Ter Multiple submitters Smith-Lemli-Opitz syndrome
- p.Tyr125Ter Multiple submitters Smith-Lemli-Opitz syndrome
- p.Tyr200Ter Multiple submitters Smith-Lemli-Opitz syndrome
- p.Tyr217Ter Multiple submitters Smith-Lemli-Opitz syndrome
- p.Tyr280Cys Multiple submitters DHCR7-related disorder
- p.Tyr291_Leu292insTer Multiple submitters Smith-Lemli-Opitz syndrome
- p.Tyr318Asn Multiple submitters Smith-Lemli-Opitz syndrome
- p.Tyr318fs Multiple submitters Smith-Lemli-Opitz syndrome
- p.Tyr324His Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Tyr382Ter Multiple submitters Smith-Lemli-Opitz syndrome
- p.Tyr408His Multiple submitters Smith-Lemli-Opitz syndrome
- p.Tyr408Ter Multiple submitters Smith-Lemli-Opitz syndrome
- p.Tyr430Ter Multiple submitters Smith-Lemli-Opitz syndrome
- p.Tyr432Cys Multiple submitters DHCR7-related disorder
- p.Val281Met Multiple submitters Inborn genetic diseases
- p.Val326Leu Multiple submitters DHCR7-related disorder ⚠
- p.Val353fs Multiple submitters Smith-Lemli-Opitz syndrome
- p.Val466Met Multiple submitters Smith-Lemli-Opitz syndrome
Likely pathogenic 144
- c.322-1G>A Multiple submitters Smith-Lemli-Opitz syndrome
- c.412+3A>T Multiple submitters Smith-Lemli-Opitz syndrome
- c.413-2A>G Multiple submitters Smith-Lemli-Opitz syndrome
- c.626+1G>A Multiple submitters Smith-Lemli-Opitz syndrome
- c.626+1G>T Multiple submitters DHCR7-related disorder
- c.627-1G>A Multiple submitters Smith-Lemli-Opitz syndrome
- c.963+1G>A Multiple submitters Smith-Lemli-Opitz syndrome
- c.98+2_98+6del Multiple submitters Smith-Lemli-Opitz syndrome
- p.Arg242Pro Multiple submitters Smith-Lemli-Opitz syndrome
- p.Arg404Gly Multiple submitters Smith-Lemli-Opitz syndrome
- p.Arg404His Multiple submitters Smith-Lemli-Opitz syndrome
- p.Arg404Ser Multiple submitters Smith-Lemli-Opitz syndrome
- p.Arg443Gly Multiple submitters Smith-Lemli-Opitz syndrome
- p.Arg443Leu Multiple submitters Smith-Lemli-Opitz syndrome
- p.Arg450Cys Multiple submitters Smith-Lemli-Opitz syndrome
- p.Asn407Lys Multiple submitters Smith-Lemli-Opitz syndrome
- p.Asp175His Multiple submitters Smith-Lemli-Opitz syndrome
- p.Cys183Tyr Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Glu448Gln Multiple submitters Smith-Lemli-Opitz syndrome
- p.Gly213fs Multiple submitters Smith-Lemli-Opitz syndrome
- p.His301Asn Multiple submitters Smith-Lemli-Opitz syndrome
- p.Leu332fs Multiple submitters Smith-Lemli-Opitz syndrome
- p.Lys210fs Multiple submitters Smith-Lemli-Opitz syndrome
- p.Pro243Ser Multiple submitters Smith-Lemli-Opitz syndrome
- p.Trp158Ter Multiple submitters Smith-Lemli-Opitz syndrome
- p.Trp167Ter Multiple submitters Smith-Lemli-Opitz syndrome
- p.Trp33Ter Multiple submitters Smith-Lemli-Opitz syndrome
- p.Tyr143Ter Multiple submitters Smith-Lemli-Opitz syndrome
- c.321+1_321+8del Single submitter DHCR7-related disorder
- c.321+1G>A Single submitter Smith-Lemli-Opitz syndrome
- c.321+2T>C Single submitter Smith-Lemli-Opitz syndrome
- c.322_330del Single submitter Smith-Lemli-Opitz syndrome
- c.322-1G>C Single submitter Smith-Lemli-Opitz syndrome
- c.412+2T>C Single submitter Smith-Lemli-Opitz syndrome
- c.413-1G>T Single submitter Smith-Lemli-Opitz syndrome
- c.626+1G>C Single submitter Smith-Lemli-Opitz syndrome
- c.626+2del Single submitter Smith-Lemli-Opitz syndrome
- c.832-1G>C Single submitter Smith-Lemli-Opitz syndrome
- c.832-1G>T Single submitter Smith-Lemli-Opitz syndrome
- c.963+1G>C Single submitter Smith-Lemli-Opitz syndrome
- c.963+2T>C Single submitter Smith-Lemli-Opitz syndrome
- c.964-31_970delinsTGTCCACCCCGC Single submitter Smith-Lemli-Opitz syndrome
- c.98+1G>A Single submitter Smith-Lemli-Opitz syndrome
- c.98+1G>C Single submitter Smith-Lemli-Opitz syndrome
- c.98+1G>T Single submitter Smith-Lemli-Opitz syndrome
- c.98+2T>C Single submitter Smith-Lemli-Opitz syndrome
- c.99-1G>C Single submitter Smith-Lemli-Opitz syndrome
- c.-6-2A>T Single submitter Smith-Lemli-Opitz syndrome
- p.Ala12fs Single submitter Smith-Lemli-Opitz syndrome
- p.Ala206fs Single submitter Smith-Lemli-Opitz syndrome
- p.Ala247Ser Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Ala67fs Single submitter Smith-Lemli-Opitz syndrome
- p.Arg242fs Single submitter Smith-Lemli-Opitz syndrome
- p.Arg242Leu Single submitter Smith-Lemli-Opitz syndrome
- p.Arg362fs Single submitter Smith-Lemli-Opitz syndrome
- p.Arg362Gly Single submitter Smith-Lemli-Opitz syndrome
- p.Arg404Leu Single submitter Smith-Lemli-Opitz syndrome
- p.Asn146fs Single submitter Smith-Lemli-Opitz syndrome
- p.Asn146Lys Single submitter Smith-Lemli-Opitz syndrome
- p.Asn274Ser Single submitter ⚠
- p.Asn274Thr Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Asp296fs Single submitter Smith-Lemli-Opitz syndrome
- p.Asp386fs Single submitter Smith-Lemli-Opitz syndrome
- p.Cys209Ter Single submitter Smith-Lemli-Opitz syndrome
- p.Cys298Ter Single submitter Smith-Lemli-Opitz syndrome
- p.Cys380Leu Single submitter Smith-Lemli-Opitz syndrome
- p.Cys444Tyr Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Cys451Phe Single submitter Smith-Lemli-Opitz syndrome
- p.Cys66Tyr Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Gln277Ter Single submitter Smith-Lemli-Opitz syndrome
- p.Glu224Ter Single submitter Smith-Lemli-Opitz syndrome
- p.Glu379Ter Single submitter Smith-Lemli-Opitz syndrome
- p.Glu448fs Single submitter Smith-Lemli-Opitz syndrome
- p.Gly124fs Single submitter Smith-Lemli-Opitz syndrome
- p.Gly147fs Single submitter Smith-Lemli-Opitz syndrome
- p.Gly303Glu Single submitter Smith-Lemli-Opitz syndrome
- p.Gly309Asp Single submitter Smith-Lemli-Opitz syndrome
- p.Gly30Asp Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Gly344Arg Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Gly347Val Single submitter Smith-Lemli-Opitz syndrome
- p.Gly387fs Single submitter Smith-Lemli-Opitz syndrome
- p.Gly410_Asp411insTer Single submitter Smith-Lemli-Opitz syndrome
- p.Gly70fs Single submitter Smith-Lemli-Opitz syndrome
- p.His426Pro Single submitter Smith-Lemli-Opitz syndrome
- p.His442Asp Single submitter Smith-Lemli-Opitz syndrome
- p.Ile145Leu Single submitter Smith-Lemli-Opitz syndrome
- p.Ile178Asn Single submitter Smith-Lemli-Opitz syndrome
- p.Ile297Thr Single submitter Smith-Lemli-Opitz syndrome
- p.Leu102Ter Single submitter Smith-Lemli-Opitz syndrome
- p.Leu122fs Single submitter Smith-Lemli-Opitz syndrome
- p.Leu412fs Single submitter Smith-Lemli-Opitz syndrome
- p.Lys198Asn Single submitter Smith-Lemli-Opitz syndrome
- p.Lys358_Asp359insTer Single submitter Smith-Lemli-Opitz syndrome
- p.Lys358fs Single submitter Smith-Lemli-Opitz syndrome
- p.Met59fs Single submitter Smith-Lemli-Opitz syndrome
- p.Phe284Val Single submitter Smith-Lemli-Opitz syndrome
- p.Phe302Val Single submitter Smith-Lemli-Opitz syndrome
- p.Phe52fs Single submitter Smith-Lemli-Opitz syndrome
- p.Pro467Leu Single submitter
- p.Pro467Ser Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Pro51Leu Single submitter Smith-Lemli-Opitz syndrome
- p.Pro71fs Single submitter Smith-Lemli-Opitz syndrome
- p.Ser166fs Single submitter Smith-Lemli-Opitz syndrome
- p.Ser333fs Single submitter Smith-Lemli-Opitz syndrome
- p.Ser333Phe Single submitter
- p.Ser39Ter Single submitter Smith-Lemli-Opitz syndrome
- p.Ser415fs Single submitter Smith-Lemli-Opitz syndrome
- p.Thr294fs Single submitter Smith-Lemli-Opitz syndrome
- p.Thr364Ala Single submitter ⚠
- p.Thr93fs Single submitter Smith-Lemli-Opitz syndrome
- p.Thr93Lys Single submitter Smith-Lemli-Opitz syndrome
- p.Trp177Ter Single submitter Smith-Lemli-Opitz syndrome
- p.Trp182Leu Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Trp286fs Single submitter Smith-Lemli-Opitz syndrome
- p.Trp86Ter Single submitter Smith-Lemli-Opitz syndrome
- p.Tyr100Ter Single submitter Smith-Lemli-Opitz syndrome
- p.Tyr125Cys Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Tyr125His Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Tyr189fs Single submitter Smith-Lemli-Opitz syndrome
- p.Tyr189Ter Single submitter Smith-Lemli-Opitz syndrome
- p.Tyr219His Single submitter Small for gestational age ⚠
- p.Tyr280Asp Single submitter Smith-Lemli-Opitz syndrome
- p.Tyr291Ter Single submitter Smith-Lemli-Opitz syndrome
- p.Tyr318Cys Single submitter Smith-Lemli-Opitz syndrome
- p.Tyr318His Single submitter Smith-Lemli-Opitz syndrome
- p.Tyr408Phe Single submitter Smith-Lemli-Opitz syndrome
- p.Tyr432His Single submitter Smith-Lemli-Opitz syndrome
- p.Tyr462Cys Single submitter Smith-Lemli-Opitz syndrome
- p.Tyr462fs Single submitter Smith-Lemli-Opitz syndrome
- p.Tyr55Ter Single submitter Smith-Lemli-Opitz syndrome
- p.Tyr56Ter Single submitter Smith-Lemli-Opitz syndrome
- p.Val134fs Single submitter Smith-Lemli-Opitz syndrome
- p.Val312fs Single submitter Smith-Lemli-Opitz syndrome
- p.Val409fs Single submitter Smith-Lemli-Opitz syndrome
- c.322-2A>G No assertion criteria Smith-Lemli-Opitz syndrome
- c.413-1G>A No assertion criteria Smith-Lemli-Opitz syndrome
- c.626+2dup No assertion criteria Smith-Lemli-Opitz syndrome
- p.Asn268fs No assertion criteria Smith-Lemli-Opitz syndrome
- p.His299Tyr No assertion criteria ⚠
- p.Ter476Lys No assertion criteria Smith-Lemli-Opitz syndrome
- p.Trp286Ter No assertion criteria Smith-Lemli-Opitz syndrome
- p.Trp400Ter No assertion criteria Smith-Lemli-Opitz syndrome
- p.Tyr327Ter No assertion criteria Smith-Lemli-Opitz syndrome
- p.Tyr348fs No assertion criteria DHCR7-related disorder
Conflicting classifications of pathogenicity 101
- c.321+10C>T Single submitter Smith-Lemli-Opitz syndrome
- c.322-7G>A Single submitter Smith-Lemli-Opitz syndrome
- c.322-9G>A Single submitter Smith-Lemli-Opitz syndrome
- c.412+4G>A Single submitter Smith-Lemli-Opitz syndrome
- c.413-12C>T Single submitter Smith-Lemli-Opitz syndrome
- c.831+7G>A Single submitter Smith-Lemli-Opitz syndrome
- c.963+7A>G Single submitter Smith-Lemli-Opitz syndrome
- c.964-5C>T Single submitter Smith-Lemli-Opitz syndrome
- c.99-10G>A Single submitter Smith-Lemli-Opitz syndrome
- c.99-11C>T Single submitter Smith-Lemli-Opitz syndrome
- c.99-5C>T Single submitter Inborn genetic diseases
- c.-195G>T Single submitter Smith-Lemli-Opitz syndrome
- c.*119G>A Single submitter Smith-Lemli-Opitz syndrome
- c.*226C>T Single submitter Smith-Lemli-Opitz syndrome
- c.*28G>T Single submitter Smith-Lemli-Opitz syndrome
- p.Ala133= Single submitter Inborn genetic diseases
- p.Ala162Val Single submitter Inborn genetic diseases ⚠
- p.Ala206Thr Single submitter Inborn genetic diseases ⚠
- p.Ala247Thr Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Ala24Ser Single submitter Inborn genetic diseases ⚠
- p.Ala257= Single submitter Inborn genetic diseases
- p.Ala385= Single submitter Inborn genetic diseases
- p.Ala452Thr Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Ala67Thr Single submitter Inborn genetic diseases ⚠
- p.Ala96= Single submitter Inborn genetic diseases
- p.Arg228Gln Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Arg228Trp Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Arg31Cys Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Arg31His Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Arg362Cys Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Arg362His Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Arg363Cys Single submitter Inborn genetic diseases ⚠
- p.Arg367Cys Single submitter Inborn genetic diseases ⚠
- p.Arg446Pro Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Arg446Trp Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Arg450His Single submitter Differences in sex development ⚠
- p.Arg469Pro Single submitter DHCR7-related disorder ⚠
- p.Asp175Asn Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Cys66= Single submitter Smith-Lemli-Opitz syndrome
- p.Gln107His Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Glu224Lys Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Glu261Gly Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Glu288Lys Single submitter Inborn genetic diseases ⚠
- p.Gly147Ser Single submitter Inborn genetic diseases ⚠
- p.Gly303Trp Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Gly30Ala Single submitter Inborn genetic diseases ⚠
- p.Gly30Ser Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Gly401= Single submitter Inborn genetic diseases
- p.Gly424Ser Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Gly425Ser Single submitter Inborn genetic diseases ⚠
- p.Gly70Ser Single submitter Inborn genetic diseases ⚠
- p.His119Arg Single submitter Inborn genetic diseases ⚠
- p.His265= Single submitter Smith-Lemli-Opitz syndrome
- p.His405Gln Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.His442Arg Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Ile297Leu Single submitter ⚠
- p.Leu341Pro Single submitter Inborn genetic diseases ⚠
- p.Leu47= Single submitter Inborn genetic diseases
- p.Lys198Glu Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Lys454= Single submitter Inborn genetic diseases
- p.Phe106= Single submitter Smith-Lemli-Opitz syndrome
- p.Phe174= Single submitter Inborn genetic diseases
- p.Phe194= Single submitter Smith-Lemli-Opitz syndrome
- p.Phe255= Single submitter Inborn genetic diseases
- p.Phe285= Single submitter Smith-Lemli-Opitz syndrome
- p.Phe285del Single submitter Smith-Lemli-Opitz syndrome
- p.Phe302= Single submitter Inborn genetic diseases
- p.Phe361Leu Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Phe406Leu Single submitter Inborn genetic diseases ⚠
- p.Phe475Ser Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Pro10Ala Single submitter Inborn genetic diseases ⚠
- p.Pro243= Single submitter Smith-Lemli-Opitz syndrome
- p.Ser205= Single submitter Smith-Lemli-Opitz syndrome
- p.Ser384= Single submitter Smith-Lemli-Opitz syndrome
- p.Ser42= Single submitter Inborn genetic diseases
- p.Ser5= Single submitter Inborn genetic diseases
- p.Ser83= Single submitter Smith-Lemli-Opitz syndrome
- p.Ter476Gln Single submitter Smith-Lemli-Opitz syndrome
- p.Thr364= Single submitter Inborn genetic diseases
- p.Thr364Met Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Thr463= Single submitter Inborn genetic diseases
- p.Thr77= Single submitter Smith-Lemli-Opitz syndrome
- p.Tyr125= Single submitter Smith-Lemli-Opitz syndrome
- p.Tyr219Asp Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Tyr280= Single submitter Inborn genetic diseases
- p.Tyr418= Single submitter Smith-Lemli-Opitz syndrome
- p.Tyr455= Single submitter Inborn genetic diseases
- p.Tyr462His Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Val126Ile Single submitter Inborn genetic diseases ⚠
- p.Val134Leu Single submitter Inborn genetic diseases ⚠
- p.Val18Ile Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Val273Gly Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Val273Ile Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Val326Gly Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Val330Met Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Val338Met Single submitter Inborn genetic diseases ⚠
- p.Val340Ile Single submitter Inborn genetic diseases ⚠
- p.Val402Met Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Val43Ile Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Val466Ala Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Val76Ile Single submitter Smith-Lemli-Opitz syndrome ⚠
Benign 32
- c.321+219C>T Multiple submitters Smith-Lemli-Opitz syndrome
- c.321+34C>A Multiple submitters Smith-Lemli-Opitz syndrome
- c.322-60G>T Multiple submitters Smith-Lemli-Opitz syndrome
- c.626+15G>A Multiple submitters Smith-Lemli-Opitz syndrome
- c.627-118G>A Multiple submitters
- c.627-167G>A Multiple submitters
- c.627-29T>G Multiple submitters Smith-Lemli-Opitz syndrome
- c.627-61G>A Multiple submitters
- c.627-88G>A Multiple submitters
- c.831+69G>A Multiple submitters Smith-Lemli-Opitz syndrome
- c.832-77G>A Multiple submitters
- c.832-80T>C Multiple submitters Smith-Lemli-Opitz syndrome
- c.964-67C>T Multiple submitters Smith-Lemli-Opitz syndrome
- c.-131-61T>G Multiple submitters
- c.-225C>G Multiple submitters Smith-Lemli-Opitz syndrome
- c.-225C>T Multiple submitters Smith-Lemli-Opitz syndrome
- c.*480C>T Multiple submitters Smith-Lemli-Opitz syndrome
- c.*643C>T Multiple submitters Smith-Lemli-Opitz syndrome
- c.*734A>G Multiple submitters Smith-Lemli-Opitz syndrome
- p.Asn146= Multiple submitters Smith-Lemli-Opitz syndrome
- p.Asp386= Multiple submitters Inborn genetic diseases
- p.Gln63= Multiple submitters Smith-Lemli-Opitz syndrome
- p.Gly424= Multiple submitters Inborn genetic diseases
- p.Met196Val Multiple submitters Smith-Lemli-Opitz syndrome
- c.321+22G>A Single submitter
- c.832-148C>T Single submitter
- c.964-8dup Single submitter Smith-Lemli-Opitz syndrome
- c.98+260T>C Single submitter
- c.-131-44A>G Single submitter
- c.-7+44C>A Single submitter
- c.*161_*172del Single submitter Smith-Lemli-Opitz syndrome
- p.Pro136= Single submitter Smith-Lemli-Opitz syndrome
Benign/Likely benign 7
- c.99-4G>A Multiple submitters Inborn genetic diseases
- c.-23T>C Multiple submitters Smith-Lemli-Opitz syndrome
- c.-35C>T Multiple submitters Smith-Lemli-Opitz syndrome
- p.Asp447= Multiple submitters Inborn genetic diseases
- p.Cys183= Multiple submitters Inborn genetic diseases
- p.His336= Multiple submitters Inborn genetic diseases
- p.Ile9Phe Multiple submitters Inborn genetic diseases
Likely benign 338
Showing the top 300 by review status; the full set is in the sitemap.
- c.412+13C>T Multiple submitters Smith-Lemli-Opitz syndrome
- c.626+17G>A Multiple submitters Smith-Lemli-Opitz syndrome
- c.626+67T>C Multiple submitters
- c.627-71G>A Multiple submitters
- c.832-17C>A Multiple submitters Smith-Lemli-Opitz syndrome
- c.964-10C>T Multiple submitters Smith-Lemli-Opitz syndrome
- c.98+205A>G Multiple submitters
- c.98+20T>A Multiple submitters Smith-Lemli-Opitz syndrome
- c.98+88T>C Multiple submitters
- c.99-7C>T Multiple submitters Smith-Lemli-Opitz syndrome
- c.-6-108T>C Multiple submitters
- c.*451A>G Multiple submitters Smith-Lemli-Opitz syndrome
- p.Ala87= Multiple submitters Inborn genetic diseases
- p.Asn161= Multiple submitters Smith-Lemli-Opitz syndrome
- p.Asn274= Multiple submitters Smith-Lemli-Opitz syndrome
- p.Gln98= Multiple submitters Smith-Lemli-Opitz syndrome
- p.Gly17= Multiple submitters Smith-Lemli-Opitz syndrome
- p.Gly230= Multiple submitters Inborn genetic diseases
- p.Gly366= Multiple submitters Smith-Lemli-Opitz syndrome
- p.His79= Multiple submitters Smith-Lemli-Opitz syndrome
- p.Ile229= Multiple submitters Inborn genetic diseases
- p.Ile251= Multiple submitters Inborn genetic diseases
- p.Ile378= Multiple submitters Smith-Lemli-Opitz syndrome
- p.Ile53= Multiple submitters Smith-Lemli-Opitz syndrome
- p.Leu102= Multiple submitters Smith-Lemli-Opitz syndrome
- p.Leu114= Multiple submitters Smith-Lemli-Opitz syndrome
- p.Leu181= Multiple submitters Inborn genetic diseases
- p.Leu420= Multiple submitters Inborn genetic diseases
- p.Lys4= Multiple submitters Smith-Lemli-Opitz syndrome
- p.Phe49= Multiple submitters Inborn genetic diseases
- p.Thr101= Multiple submitters Smith-Lemli-Opitz syndrome
- p.Thr112= Multiple submitters Smith-Lemli-Opitz syndrome
- p.Thr171= Multiple submitters Smith-Lemli-Opitz syndrome
- p.Thr294= Multiple submitters Smith-Lemli-Opitz syndrome
- p.Thr319= Multiple submitters Smith-Lemli-Opitz syndrome
- p.Thr93= Multiple submitters Smith-Lemli-Opitz syndrome
- p.Tyr318= Multiple submitters Smith-Lemli-Opitz syndrome
- p.Tyr408= Multiple submitters Inborn genetic diseases
- p.Tyr462= Multiple submitters Inborn genetic diseases
- p.Val340= Multiple submitters Inborn genetic diseases
- c.321+11C>T Single submitter Smith-Lemli-Opitz syndrome
- c.321+15C>T Single submitter Smith-Lemli-Opitz syndrome
- c.321+19G>A Single submitter Smith-Lemli-Opitz syndrome
- c.321+8del Single submitter Smith-Lemli-Opitz syndrome
- c.321+8G>T Single submitter Smith-Lemli-Opitz syndrome
- c.321+9C>T Single submitter Smith-Lemli-Opitz syndrome
- c.322-13T>C Single submitter Smith-Lemli-Opitz syndrome
- c.322-15G>A Single submitter Smith-Lemli-Opitz syndrome
- c.322-17C>A Single submitter Smith-Lemli-Opitz syndrome
- c.322-18G>A Single submitter Smith-Lemli-Opitz syndrome
- c.322-18G>T Single submitter Smith-Lemli-Opitz syndrome
- c.322-229del Single submitter
- c.412+10T>G Single submitter Smith-Lemli-Opitz syndrome
- c.412+16C>T Single submitter Smith-Lemli-Opitz syndrome
- c.412+17C>T Single submitter Smith-Lemli-Opitz syndrome
- c.412+19C>T Single submitter Smith-Lemli-Opitz syndrome
- c.412+20C>G Single submitter Smith-Lemli-Opitz syndrome
- c.412+20C>T Single submitter Smith-Lemli-Opitz syndrome
- c.412+261G>A Single submitter
- c.412+8C>T Single submitter Smith-Lemli-Opitz syndrome
- c.412+9C>T Single submitter Smith-Lemli-Opitz syndrome
- c.413-17G>C Single submitter Smith-Lemli-Opitz syndrome
- c.413-18T>C Single submitter Smith-Lemli-Opitz syndrome
- c.413-19C>T Single submitter Smith-Lemli-Opitz syndrome
- c.413-6C>A Single submitter Smith-Lemli-Opitz syndrome
- c.413-8A>G Single submitter Smith-Lemli-Opitz syndrome
- c.413-8A>T Single submitter Smith-Lemli-Opitz syndrome
- c.626+126_626+128del Single submitter
- c.626+14A>T Single submitter Smith-Lemli-Opitz syndrome
- c.626+16C>A Single submitter Smith-Lemli-Opitz syndrome
- c.626+16C>T Single submitter Smith-Lemli-Opitz syndrome
- c.626+18G>T Single submitter Smith-Lemli-Opitz syndrome
- c.626+19G>A Single submitter Smith-Lemli-Opitz syndrome
- c.626+19G>T Single submitter Smith-Lemli-Opitz syndrome
- c.626+8C>T Single submitter Smith-Lemli-Opitz syndrome
- c.627-11A>C Single submitter Smith-Lemli-Opitz syndrome
- c.627-14T>C Single submitter Smith-Lemli-Opitz syndrome
- c.627-15A>C Single submitter Smith-Lemli-Opitz syndrome
- c.627-15A>G Single submitter Smith-Lemli-Opitz syndrome
- c.627-17T>A Single submitter Smith-Lemli-Opitz syndrome
- c.627-17T>G Single submitter Smith-Lemli-Opitz syndrome
- c.627-20C>G Single submitter Smith-Lemli-Opitz syndrome
- c.627-4T>A Single submitter Smith-Lemli-Opitz syndrome
- c.627-9A>G Single submitter Smith-Lemli-Opitz syndrome
- c.831+13G>A Single submitter Smith-Lemli-Opitz syndrome
- c.831+14C>T Single submitter Smith-Lemli-Opitz syndrome
- c.831+15T>C Single submitter Smith-Lemli-Opitz syndrome
- c.832-14C>T Single submitter Smith-Lemli-Opitz syndrome
- c.832-15G>A Single submitter Smith-Lemli-Opitz syndrome
- c.832-19G>A Single submitter Smith-Lemli-Opitz syndrome
- c.832-20C>T Single submitter Smith-Lemli-Opitz syndrome
- c.832-4G>A Single submitter Smith-Lemli-Opitz syndrome
- c.832-4G>T Single submitter Smith-Lemli-Opitz syndrome
- c.832-7C>G Single submitter Smith-Lemli-Opitz syndrome
- c.832-7C>T Single submitter Smith-Lemli-Opitz syndrome
- c.832-9G>A Single submitter Smith-Lemli-Opitz syndrome
- c.963+14C>A Single submitter Smith-Lemli-Opitz syndrome
- c.963+16G>T Single submitter Smith-Lemli-Opitz syndrome
- c.963+18G>A Single submitter
- c.963+19C>T Single submitter Smith-Lemli-Opitz syndrome
- c.963+30G>A Single submitter
- c.963+8G>A Single submitter Smith-Lemli-Opitz syndrome
- c.963+9G>A Single submitter Smith-Lemli-Opitz syndrome
- c.963+9G>T Single submitter Smith-Lemli-Opitz syndrome
- c.964-12C>G Single submitter Smith-Lemli-Opitz syndrome
- c.964-13C>G Single submitter Smith-Lemli-Opitz syndrome
- c.964-14C>G Single submitter Smith-Lemli-Opitz syndrome
- c.964-15C>G Single submitter Smith-Lemli-Opitz syndrome
- c.964-16C>G Single submitter Smith-Lemli-Opitz syndrome
- c.964-16C>T Single submitter Smith-Lemli-Opitz syndrome
- c.964-23_964-20dup Single submitter Smith-Lemli-Opitz syndrome
- c.964-272_964-271dup Single submitter
- c.964-4C>T Single submitter Smith-Lemli-Opitz syndrome
- c.964-5C>G Single submitter Smith-Lemli-Opitz syndrome
- c.964-6C>T Single submitter Smith-Lemli-Opitz syndrome
- c.964-7C>A Single submitter Smith-Lemli-Opitz syndrome
- c.964-7C>G Single submitter Smith-Lemli-Opitz syndrome
- c.964-7C>T Single submitter Smith-Lemli-Opitz syndrome
- c.964-8C>T Single submitter Smith-Lemli-Opitz syndrome
- c.964-9G>A Single submitter Smith-Lemli-Opitz syndrome
- c.98+10T>A Single submitter Smith-Lemli-Opitz syndrome
- c.98+122del Single submitter
- c.98+12G>T Single submitter Smith-Lemli-Opitz syndrome
- c.98+16G>A Single submitter Smith-Lemli-Opitz syndrome
- c.98+19C>T Single submitter Smith-Lemli-Opitz syndrome
- c.98+7A>C Single submitter Smith-Lemli-Opitz syndrome
- c.98+9C>T Single submitter Smith-Lemli-Opitz syndrome
- c.99-11C>G Single submitter Smith-Lemli-Opitz syndrome
- c.99-12C>T Single submitter Smith-Lemli-Opitz syndrome
- c.99-13T>A Single submitter Smith-Lemli-Opitz syndrome
- c.99-14A>T Single submitter Smith-Lemli-Opitz syndrome
- c.99-17T>C Single submitter Smith-Lemli-Opitz syndrome
- c.99-19C>A Single submitter Smith-Lemli-Opitz syndrome
- c.99-20G>A Single submitter Smith-Lemli-Opitz syndrome
- c.99-4G>T Single submitter Smith-Lemli-Opitz syndrome
- c.99-8C>T Single submitter Smith-Lemli-Opitz syndrome
- c.-6-119C>A Single submitter
- c.-6-22A>G Single submitter
- c.*358C>T Single submitter Smith-Lemli-Opitz syndrome
- c.*565G>A Single submitter Smith-Lemli-Opitz syndrome
- p.Ala12= Single submitter Smith-Lemli-Opitz syndrome
- p.Ala150= Single submitter Smith-Lemli-Opitz syndrome
- p.Ala160= Single submitter Smith-Lemli-Opitz syndrome
- p.Ala162= Single submitter Smith-Lemli-Opitz syndrome
- p.Ala184= Single submitter Smith-Lemli-Opitz syndrome
- p.Ala190= Single submitter Smith-Lemli-Opitz syndrome
- p.Ala195= Single submitter Smith-Lemli-Opitz syndrome
- p.Ala2= Single submitter Inborn genetic diseases
- p.Ala256= Single submitter Smith-Lemli-Opitz syndrome
- p.Ala269= Single submitter Smith-Lemli-Opitz syndrome
- p.Ala3= Single submitter Smith-Lemli-Opitz syndrome
- p.Ala337= Single submitter Smith-Lemli-Opitz syndrome
- p.Ala354= Single submitter Smith-Lemli-Opitz syndrome
- p.Ala403= Single submitter Smith-Lemli-Opitz syndrome
- p.Ala41= Single submitter Smith-Lemli-Opitz syndrome
- p.Ala417= Single submitter Smith-Lemli-Opitz syndrome
- p.Ala452= Single submitter Smith-Lemli-Opitz syndrome
- p.Ala464= Single submitter Smith-Lemli-Opitz syndrome
- p.Ala465= Single submitter Smith-Lemli-Opitz syndrome
- p.Ala50= Single submitter Smith-Lemli-Opitz syndrome
- p.Ala67= Single submitter Smith-Lemli-Opitz syndrome
- p.Ala97= Single submitter Smith-Lemli-Opitz syndrome
- p.Arg242= Single submitter Smith-Lemli-Opitz syndrome
- p.Arg260= Single submitter Smith-Lemli-Opitz syndrome
- p.Arg352= Single submitter Smith-Lemli-Opitz syndrome
- p.Arg362= Single submitter Smith-Lemli-Opitz syndrome
- p.Arg363= Single submitter Smith-Lemli-Opitz syndrome
- p.Arg389= Single submitter Smith-Lemli-Opitz syndrome
- p.Arg404= Single submitter Smith-Lemli-Opitz syndrome
- p.Arg446= Single submitter Smith-Lemli-Opitz syndrome
- p.Arg450= Single submitter
- p.Arg469= Single submitter Smith-Lemli-Opitz syndrome
- p.Arg94= Single submitter Smith-Lemli-Opitz syndrome
- p.Asn185= Single submitter Smith-Lemli-Opitz syndrome
- p.Asn252= Single submitter Smith-Lemli-Opitz syndrome
- p.Asn268= Single submitter Smith-Lemli-Opitz syndrome
- p.Asn287= Single submitter Smith-Lemli-Opitz syndrome
- p.Asp116= Single submitter Smith-Lemli-Opitz syndrome
- p.Asp175= Single submitter Smith-Lemli-Opitz syndrome
- p.Asp208= Single submitter Smith-Lemli-Opitz syndrome
- p.Asp283= Single submitter Smith-Lemli-Opitz syndrome
- p.Asp296= Single submitter Smith-Lemli-Opitz syndrome
- p.Asp310= Single submitter Smith-Lemli-Opitz syndrome
- p.Asp359= Single submitter Smith-Lemli-Opitz syndrome
- p.Asp36= Single submitter Smith-Lemli-Opitz syndrome
- p.Asp62= Single submitter Smith-Lemli-Opitz syndrome
- p.Asp74= Single submitter Smith-Lemli-Opitz syndrome
- p.Asp74Glu Single submitter Smith-Lemli-Opitz syndrome
- p.Cys118= Single submitter Smith-Lemli-Opitz syndrome
- p.Cys451= Single submitter Smith-Lemli-Opitz syndrome
- p.Gln28= Single submitter Smith-Lemli-Opitz syndrome
- p.Gln6= Single submitter Smith-Lemli-Opitz syndrome
- p.Glu131= Single submitter Smith-Lemli-Opitz syndrome
- p.Glu261= Single submitter Smith-Lemli-Opitz syndrome
- p.Glu379= Single submitter Smith-Lemli-Opitz syndrome
- p.Glu460= Single submitter
- p.Gly127= Single submitter Smith-Lemli-Opitz syndrome
- p.Gly241= Single submitter Smith-Lemli-Opitz syndrome
- p.Gly30= Single submitter Smith-Lemli-Opitz syndrome
- p.Gly307= Single submitter Inborn genetic diseases
- p.Gly309= Single submitter Smith-Lemli-Opitz syndrome
- p.Gly339= Single submitter Smith-Lemli-Opitz syndrome
- p.Gly347= Single submitter Smith-Lemli-Opitz syndrome
- p.Gly387= Single submitter Smith-Lemli-Opitz syndrome
- p.Gly398= Single submitter Smith-Lemli-Opitz syndrome
- p.Gly410= Single submitter Smith-Lemli-Opitz syndrome
- p.Gly414= Single submitter Smith-Lemli-Opitz syndrome
- p.Gly423= Single submitter Smith-Lemli-Opitz syndrome
- p.Gly456= Single submitter Smith-Lemli-Opitz syndrome
- p.Gly473= Single submitter Smith-Lemli-Opitz syndrome
- p.Gly70= Single submitter Smith-Lemli-Opitz syndrome
- p.His155= Single submitter Smith-Lemli-Opitz syndrome
- p.His263= Single submitter Smith-Lemli-Opitz syndrome
- p.His301= Single submitter Smith-Lemli-Opitz syndrome
- p.His390= Single submitter Smith-Lemli-Opitz syndrome
- p.His391= Single submitter Smith-Lemli-Opitz syndrome
- p.His426= Single submitter Smith-Lemli-Opitz syndrome
- p.His442= Single submitter Smith-Lemli-Opitz syndrome
- p.His449= Single submitter Smith-Lemli-Opitz syndrome
- p.Ile145= Single submitter Smith-Lemli-Opitz syndrome
- p.Ile178= Single submitter Smith-Lemli-Opitz syndrome
- p.Ile223= Single submitter Smith-Lemli-Opitz syndrome
- p.Ile245= Single submitter Smith-Lemli-Opitz syndrome
- p.Ile279= Single submitter Smith-Lemli-Opitz syndrome
- p.Ile297= Single submitter Smith-Lemli-Opitz syndrome
- p.Ile350= Single submitter Smith-Lemli-Opitz syndrome
- p.Ile370= Single submitter Smith-Lemli-Opitz syndrome
- p.Ile433= Single submitter Smith-Lemli-Opitz syndrome
- p.Ile438= Single submitter Smith-Lemli-Opitz syndrome
- p.Ile58= Single submitter Smith-Lemli-Opitz syndrome
- p.Ile75= Single submitter Smith-Lemli-Opitz syndrome
- p.Ile85= Single submitter Smith-Lemli-Opitz syndrome
- p.Leu109= Single submitter Smith-Lemli-Opitz syndrome
- p.Leu110= Single submitter Smith-Lemli-Opitz syndrome
- p.Leu148= Single submitter Smith-Lemli-Opitz syndrome
- p.Leu15= Single submitter Smith-Lemli-Opitz syndrome
- p.Leu156= Single submitter
- p.Leu157= Single submitter Smith-Lemli-Opitz syndrome
- p.Leu164= Single submitter Smith-Lemli-Opitz syndrome
- p.Leu164Phe Single submitter Inborn genetic diseases
- p.Leu180= Single submitter Smith-Lemli-Opitz syndrome
- p.Leu237= Single submitter Smith-Lemli-Opitz syndrome
- p.Leu250= Single submitter Smith-Lemli-Opitz syndrome
- p.Leu253= Single submitter Smith-Lemli-Opitz syndrome
- p.Leu272= Single submitter Smith-Lemli-Opitz syndrome
- p.Leu292= Single submitter Smith-Lemli-Opitz syndrome
- p.Leu314= Single submitter Smith-Lemli-Opitz syndrome
- p.Leu320= Single submitter Smith-Lemli-Opitz syndrome
- p.Leu323= Single submitter Smith-Lemli-Opitz syndrome
- p.Leu332= Single submitter Smith-Lemli-Opitz syndrome
- p.Leu345= Single submitter Smith-Lemli-Opitz syndrome
- p.Leu369= Single submitter Smith-Lemli-Opitz syndrome
- p.Leu394= Single submitter Smith-Lemli-Opitz syndrome
- p.Leu412= Single submitter Smith-Lemli-Opitz syndrome
- p.Leu428= Single submitter Smith-Lemli-Opitz syndrome
- p.Leu439= Single submitter Smith-Lemli-Opitz syndrome
- p.Leu440= Single submitter Smith-Lemli-Opitz syndrome
- p.Leu46= Single submitter Smith-Lemli-Opitz syndrome
- p.Leu470= Single submitter Smith-Lemli-Opitz syndrome
- p.Leu471= Single submitter Smith-Lemli-Opitz syndrome
- p.Leu82= Single submitter Smith-Lemli-Opitz syndrome
- p.Leu99= Single submitter Smith-Lemli-Opitz syndrome
- p.Lys11= Single submitter Smith-Lemli-Opitz syndrome
- p.Lys120= Single submitter Smith-Lemli-Opitz syndrome
- p.Lys236= Single submitter Smith-Lemli-Opitz syndrome
- p.Lys258= Single submitter Smith-Lemli-Opitz syndrome
- p.Lys293= Single submitter Smith-Lemli-Opitz syndrome
- p.Lys376= Single submitter
- p.Phe168= Single submitter Smith-Lemli-Opitz syndrome
- p.Phe202= Single submitter Smith-Lemli-Opitz syndrome
- p.Phe235= Single submitter Smith-Lemli-Opitz syndrome
- p.Phe238= Single submitter Smith-Lemli-Opitz syndrome
- p.Phe239= Single submitter Smith-Lemli-Opitz syndrome
- p.Phe361= Single submitter Smith-Lemli-Opitz syndrome
- p.Pro10= Single submitter Smith-Lemli-Opitz syndrome
- p.Pro123= Single submitter Smith-Lemli-Opitz syndrome
- p.Pro179= Single submitter Smith-Lemli-Opitz syndrome
- p.Pro203= Single submitter Smith-Lemli-Opitz syndrome
- p.Pro329= Single submitter Smith-Lemli-Opitz syndrome
- p.Pro335= Single submitter Smith-Lemli-Opitz syndrome
- p.Pro429= Single submitter Smith-Lemli-Opitz syndrome
- p.Pro472= Single submitter Smith-Lemli-Opitz syndrome
- p.Pro51= Single submitter Smith-Lemli-Opitz syndrome
- p.Pro7= Single submitter Smith-Lemli-Opitz syndrome
- p.Pro71= Single submitter Smith-Lemli-Opitz syndrome
- p.Pro90= Single submitter Smith-Lemli-Opitz syndrome
- p.Pro91= Single submitter Smith-Lemli-Opitz syndrome
- p.Ser14= Single submitter Smith-Lemli-Opitz syndrome
- p.Ser169= Single submitter Smith-Lemli-Opitz syndrome
- p.Ser192= Single submitter Smith-Lemli-Opitz syndrome
- p.Ser254= Single submitter Smith-Lemli-Opitz syndrome
- p.Ser333= Single submitter Smith-Lemli-Opitz syndrome
- p.Ser381= Single submitter
- p.Ser39= Single submitter Smith-Lemli-Opitz syndrome
- p.Ser392= Single submitter Smith-Lemli-Opitz syndrome
- p.Ser397= Single submitter Smith-Lemli-Opitz syndrome
- p.Ter476= Single submitter Smith-Lemli-Opitz syndrome
- p.Thr105= Single submitter Smith-Lemli-Opitz syndrome
- p.Thr154= Single submitter Smith-Lemli-Opitz syndrome
- p.Thr193= Single submitter Smith-Lemli-Opitz syndrome
Uncertain significance 319
Showing the top 300 by review status; the full set is in the sitemap.
- c.626+3A>G Multiple submitters Smith-Lemli-Opitz syndrome
- c.*192C>T Multiple submitters Smith-Lemli-Opitz syndrome
- c.*417C>T Multiple submitters Smith-Lemli-Opitz syndrome
- c.*424G>A Multiple submitters Smith-Lemli-Opitz syndrome
- p.Ala12Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala184Thr Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Ala24Glu Multiple submitters Inborn genetic diseases ⚠
- p.Ala24Thr Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Ala257Val Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Ala278Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ala385Thr Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Ala41Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala464Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala97Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg260Gln Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Arg260Gly Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Arg363His Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Arg457Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg457Trp Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Arg461Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg469Cys Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Arg469His Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Arg81Trp Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Asn20Asp Multiple submitters Inborn genetic diseases ⚠
- p.Asn218Lys Multiple submitters Inborn genetic diseases ⚠
- p.Asn226Asp Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Asn240Ser Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Asp310Asn Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Asp365Tyr Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Asp386Asn Multiple submitters Inborn genetic diseases
- p.Asp74Asn Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Cys209Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gln144Arg Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Glu460Gly Multiple submitters Inborn genetic diseases ⚠
- p.Gly344Asp Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Gly387Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly423Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly424Cys Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Gly456Ser Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Gly78Arg Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.His390Tyr Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Ile229Met Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Ile279Val Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Ile433Val Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Ile44Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile75Phe Multiple submitters Inborn genetic diseases ⚠
- p.Lys13Glu Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Met196Thr Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Met220Ile Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Met220Val Multiple submitters Inborn genetic diseases ⚠
- p.Phe174Val Multiple submitters Inborn genetic diseases ⚠
- p.Phe57Val Multiple submitters Inborn genetic diseases ⚠
- p.Pro335Leu Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Ser254Pro Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Ser5Leu Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Ser5Trp Multiple submitters Inborn genetic diseases ⚠
- p.Thr112Met Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Thr212Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr319Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr334Ile Multiple submitters Inborn genetic diseases ⚠
- p.Trp248Arg Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Trp313Cys Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Trp37Gly Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Tyr316Cys Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Val140Met Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Val191Ile Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Val246Ile Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Val275Ile Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- p.Val409Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val54Ile Multiple submitters Smith-Lemli-Opitz syndrome ⚠
- c.322-285T>G Single submitter
- c.412+3A>G Single submitter Smith-Lemli-Opitz syndrome
- c.626+1013G>A Single submitter Smith-Lemli-Opitz syndrome
- c.831+148C>T Single submitter Inborn genetic diseases
- c.831+4C>T Single submitter Smith-Lemli-Opitz syndrome
- c.963+6G>T Single submitter
- c.99-13T>G Single submitter
- c.99-16G>A Single submitter Smith-Lemli-Opitz syndrome
- c.-132+3G>A Single submitter Smith-Lemli-Opitz syndrome
- c.-132+6_-132+28del Single submitter
- c.-146C>T Single submitter Smith-Lemli-Opitz syndrome
- c.-192C>T Single submitter Smith-Lemli-Opitz syndrome
- c.-34T>G Single submitter Smith-Lemli-Opitz syndrome
- c.-6-4G>A Single submitter Smith-Lemli-Opitz syndrome
- c.*101C>G Single submitter Smith-Lemli-Opitz syndrome
- c.*20G>T Single submitter Smith-Lemli-Opitz syndrome
- c.*25G>A Single submitter Smith-Lemli-Opitz syndrome
- c.*261G>A Single submitter Smith-Lemli-Opitz syndrome
- c.*324C>T Single submitter Smith-Lemli-Opitz syndrome
- c.*438G>A Single submitter Smith-Lemli-Opitz syndrome
- c.*4C>T Single submitter Smith-Lemli-Opitz syndrome
- c.*57C>T Single submitter Smith-Lemli-Opitz syndrome
- c.*63G>T Single submitter Smith-Lemli-Opitz syndrome
- c.*644G>A Single submitter Smith-Lemli-Opitz syndrome
- c.*681T>C Single submitter Smith-Lemli-Opitz syndrome
- c.*700G>A Single submitter Smith-Lemli-Opitz syndrome
- c.*723C>A Single submitter Smith-Lemli-Opitz syndrome
- c.*755C>T Single submitter Smith-Lemli-Opitz syndrome
- c.*761A>T Single submitter Smith-Lemli-Opitz syndrome
- c.*765G>A Single submitter Smith-Lemli-Opitz syndrome
- c.*779T>C Single submitter Smith-Lemli-Opitz syndrome
- c.*790C>T Single submitter Smith-Lemli-Opitz syndrome
- c.*85C>T Single submitter Smith-Lemli-Opitz syndrome
- p.Ala133Ser Single submitter ⚠
- p.Ala137Ser Single submitter ⚠
- p.Ala160Ser Single submitter ⚠
- p.Ala160Thr Single submitter Inborn genetic diseases ⚠
- p.Ala162Thr Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Ala195Thr Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Ala206Ser Single submitter Inborn genetic diseases ⚠
- p.Ala256Ser Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Ala256Thr Single submitter Inborn genetic diseases ⚠
- p.Ala256Val Single submitter ⚠
- p.Ala337_Gly339del Single submitter Smith-Lemli-Opitz syndrome
- p.Ala41Pro Single submitter Smith-Lemli-Opitz syndrome
- p.Ala421Asp Single submitter Inborn genetic diseases ⚠
- p.Ala465Ser Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Ala465Thr Single submitter Inborn genetic diseases ⚠
- p.Ala50Thr Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Ala80Val Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Arg260Trp Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Arg363Leu Single submitter ⚠
- p.Asn268Ser Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Asp116Asn Single submitter ⚠
- p.Asp116Gly Single submitter Inborn genetic diseases ⚠
- p.Asp234His Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Asp300Asn Single submitter Inborn genetic diseases ⚠
- p.Asp310His Single submitter Inborn genetic diseases ⚠
- p.Asp359Glu Single submitter Inborn genetic diseases ⚠
- p.Asp36Asn Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Asp386His Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Asp411Asn Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Asp458Gly Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Cys118Tyr Single submitter Smith-Lemli-Opitz syndrome
- p.Cys311Arg Single submitter Inborn genetic diseases ⚠
- p.Gln26Glu Single submitter Inborn genetic diseases ⚠
- p.Gln277Arg Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Gln28His Single submitter ⚠
- p.Gln321Leu Single submitter ⚠
- p.Gln388Pro Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Gln98Pro Single submitter ⚠
- p.Glu131Gln Single submitter ⚠
- p.Glu261Lys Single submitter Inborn genetic diseases ⚠
- p.Glu379Lys Single submitter ⚠
- p.Gly128Val Single submitter Inborn genetic diseases ⚠
- p.Gly147Arg Single submitter
- p.Gly213Asp Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Gly230Arg Single submitter ⚠
- p.Gly303= Single submitter Smith-Lemli-Opitz syndrome
- p.Gly372Asp Single submitter Inborn genetic diseases ⚠
- p.Gly372Cys Single submitter Inborn genetic diseases ⚠
- p.Gly398fs Single submitter
- p.Gly410Asp Single submitter ⚠
- p.Gly456Val Single submitter Inborn genetic diseases ⚠
- p.Gly70Arg Single submitter Smith-Lemli-Opitz syndrome
- p.Gly70Ile Single submitter Inborn genetic diseases
- p.Gly78Glu Single submitter ⚠
- p.His155Arg Single submitter ⚠
- p.His163Arg Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.His301Gln Single submitter ⚠
- p.His390Gln Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.His391Pro Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.His405Leu Single submitter Inborn genetic diseases ⚠
- p.His442Gln Single submitter ⚠
- p.His442Tyr Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Ile178Met Single submitter ⚠
- p.Ile178Phe Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Ile251Asn Single submitter ⚠
- p.Ile295Phe Single submitter Inborn genetic diseases ⚠
- p.Ile295Thr Single submitter ⚠
- p.Ile370Phe Single submitter Inborn genetic diseases ⚠
- p.Ile378Val Single submitter Inborn genetic diseases ⚠
- p.Ile438Met Single submitter Inborn genetic diseases ⚠
- p.Leu102Phe Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Leu15Pro Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Leu181Pro Single submitter Inborn genetic diseases ⚠
- p.Leu187Pro Single submitter Inborn genetic diseases ⚠
- p.Leu317Arg Single submitter ⚠
- p.Leu395Gln Single submitter Inborn genetic diseases ⚠
- p.Leu445dup Single submitter Smith-Lemli-Opitz syndrome
- p.Leu46Arg Single submitter ⚠
- p.Lys11Glu Single submitter Inborn genetic diseases ⚠
- p.Lys13Arg Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Lys210Glu Single submitter ⚠
- p.Met220Leu Single submitter ⚠
- p.Met221Arg Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Met221Val Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Met270Thr Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Met436Val Single submitter Inborn genetic diseases ⚠
- p.Phe106Tyr Single submitter Inborn genetic diseases ⚠
- p.Phe117Ile Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Phe159Leu Single submitter Smith-Lemli-Opitz syndrome
- p.Phe201Cys Single submitter Inborn genetic diseases ⚠
- p.Phe216Val Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Phe255Cys Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Phe361fs Single submitter Smith-Lemli-Opitz syndrome
- p.Phe52Leu Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Pro179Leu Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Pro227Thr Single submitter ⚠
- p.Pro335Ser Single submitter ⚠
- p.Pro375Arg Single submitter Inborn genetic diseases ⚠
- p.Pro91Ser Single submitter Inborn genetic diseases ⚠
- p.Ser113Cys Single submitter ⚠
- p.Ser166Ala Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Ser192Cys Single submitter Inborn genetic diseases ⚠
- p.Ser192Pro Single submitter Inborn genetic diseases ⚠
- p.Ser254Ala Single submitter ⚠
- p.Ser264Asn Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Ser381Pro Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Ser453= Single submitter Smith-Lemli-Opitz syndrome
- p.Thr101Ile Single submitter Inborn genetic diseases ⚠
- p.Thr105Asn Single submitter Smith-Lemli-Opitz syndrome
- p.Thr112Arg Single submitter Inborn genetic diseases ⚠
- p.Thr193Ser Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Thr319Lys Single submitter ⚠
- p.Thr334Ser Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Thr441Ala Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Thr463Ile Single submitter Inborn genetic diseases ⚠
- p.Thr77Ile Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Trp158Cys Single submitter DHCR7-related disorder ⚠
- p.Trp167Cys Single submitter Inborn genetic diseases ⚠
- p.Trp232Arg Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Trp286Cys Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Trp459Arg Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Tyr100Cys Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Tyr217Cys Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Tyr305Ser Single submitter Inborn genetic diseases ⚠
- p.Tyr327His Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Tyr455Phe Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Tyr468His Single submitter Inborn genetic diseases ⚠
- p.Val104Phe Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Val108Leu Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Val134Met Single submitter Inborn genetic diseases ⚠
- p.Val139Ile Single submitter Inborn genetic diseases ⚠
- p.Val139Leu Single submitter Smith-Lemli-Opitz syndrome ⚠
- p.Val197Ala Single submitter ⚠
- p.Val281Ala Single submitter ⚠
- p.Val396Met Single submitter Inborn genetic diseases ⚠
- p.Val402Ala Single submitter ⚠
- p.Val72Met Single submitter Smith-Lemli-Opitz syndrome ⚠
- c.321+4_321+10del No assertion criteria Smith-Lemli-Opitz syndrome
- c.322_324del No assertion criteria Smith-Lemli-Opitz syndrome
- c.626+7T>A No assertion criteria Smith-Lemli-Opitz syndrome
- c.-103A>T No assertion criteria Smith-Lemli-Opitz syndrome
- c.-116A>G No assertion criteria Smith-Lemli-Opitz syndrome
- c.-124G>A No assertion criteria Smith-Lemli-Opitz syndrome
- c.-125A>C No assertion criteria Smith-Lemli-Opitz syndrome
- c.-131-3C>A No assertion criteria Smith-Lemli-Opitz syndrome
- c.-145C>G No assertion criteria Smith-Lemli-Opitz syndrome
- c.-149G>T No assertion criteria Smith-Lemli-Opitz syndrome
- c.-150G>C No assertion criteria Smith-Lemli-Opitz syndrome
- c.-154G>A No assertion criteria Smith-Lemli-Opitz syndrome
- c.-172A>C No assertion criteria Smith-Lemli-Opitz syndrome
- c.-175G>T No assertion criteria Smith-Lemli-Opitz syndrome
- c.-182_-171del No assertion criteria Smith-Lemli-Opitz syndrome
- c.-190G>A No assertion criteria Smith-Lemli-Opitz syndrome
- c.-199C>A No assertion criteria Smith-Lemli-Opitz syndrome
- c.-204G>T No assertion criteria Smith-Lemli-Opitz syndrome
- c.-247C>T No assertion criteria Smith-Lemli-Opitz syndrome
- c.-267T>A No assertion criteria Smith-Lemli-Opitz syndrome
- c.*7G>T No assertion criteria Smith-Lemli-Opitz syndrome
- p.Ala133Thr No assertion criteria Smith-Lemli-Opitz syndrome ⚠
- p.Ala150Val No assertion criteria Smith-Lemli-Opitz syndrome ⚠
- p.Ala337Val No assertion criteria Smith-Lemli-Opitz syndrome ⚠
- p.Ala97Ser No assertion criteria Smith-Lemli-Opitz syndrome ⚠
- p.Arg443Ser No assertion criteria Smith-Lemli-Opitz syndrome ⚠
- p.Asn8= No assertion criteria Smith-Lemli-Opitz syndrome
- p.Asp16Val No assertion criteria Smith-Lemli-Opitz syndrome ⚠
- p.Cys209Ser No assertion criteria Smith-Lemli-Opitz syndrome ⚠
- p.Cys422Tyr No assertion criteria Smith-Lemli-Opitz syndrome ⚠
- p.Cys66Gly No assertion criteria Smith-Lemli-Opitz syndrome ⚠
- p.Gln28Arg No assertion criteria Smith-Lemli-Opitz syndrome ⚠
- p.Gln357Pro No assertion criteria Smith-Lemli-Opitz syndrome ⚠
- p.Glu379Gly No assertion criteria Smith-Lemli-Opitz syndrome ⚠
- p.His119Asp No assertion criteria Smith-Lemli-Opitz syndrome ⚠
- p.His391Gln No assertion criteria Smith-Lemli-Opitz syndrome ⚠
- p.His426Leu No assertion criteria Smith-Lemli-Opitz syndrome ⚠
- p.Ile186= No assertion criteria Smith-Lemli-Opitz syndrome
- p.Ile350Val No assertion criteria Smith-Lemli-Opitz syndrome ⚠
- p.Ile438Thr No assertion criteria Smith-Lemli-Opitz syndrome ⚠
- p.Ile474Leu No assertion criteria Smith-Lemli-Opitz syndrome ⚠
- p.Leu109Phe No assertion criteria Smith-Lemli-Opitz syndrome ⚠
- p.Leu152Phe No assertion criteria Smith-Lemli-Opitz syndrome ⚠
- p.Leu165= No assertion criteria Smith-Lemli-Opitz syndrome
- p.Leu187Val No assertion criteria Smith-Lemli-Opitz syndrome ⚠
- p.Leu317Val No assertion criteria Smith-Lemli-Opitz syndrome ⚠
- p.Leu320Pro No assertion criteria Smith-Lemli-Opitz syndrome ⚠
- p.Leu325Val No assertion criteria Smith-Lemli-Opitz syndrome ⚠
- p.Leu342Pro No assertion criteria Smith-Lemli-Opitz syndrome ⚠
- p.Leu445= No assertion criteria Smith-Lemli-Opitz syndrome
- p.Leu445Pro No assertion criteria Smith-Lemli-Opitz syndrome ⚠
- p.Met196Ile No assertion criteria Smith-Lemli-Opitz syndrome
- p.Phe215Leu No assertion criteria Smith-Lemli-Opitz syndrome
- p.Phe285Tyr No assertion criteria Smith-Lemli-Opitz syndrome ⚠
- p.Phe475Cys No assertion criteria Smith-Lemli-Opitz syndrome ⚠
- p.Pro115Arg No assertion criteria Smith-Lemli-Opitz syndrome ⚠
- p.Pro123Thr No assertion criteria Smith-Lemli-Opitz syndrome ⚠
- p.Pro136Leu No assertion criteria Smith-Lemli-Opitz syndrome ⚠
- p.Pro315Leu No assertion criteria Smith-Lemli-Opitz syndrome ⚠
- p.Pro375Ser No assertion criteria Smith-Lemli-Opitz syndrome ⚠