DCAF17 — 567 ClinVar variants

All ClinVar germline DCAF17 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 115 flagged for review →

36 Pathogenic · 6 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 20 Conflicting · 58 Benign · 6 Benign/Likely benign · 257 Likely benign · 169 Uncertain significance

Full DCAF17 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 115

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 2

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

DCAF17 p.Arg178Gln Conflicting Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Arg73Cys Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 68

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

DCAF17 p.Ala242Thr Uncertain significance Multiple submitters
Woodhouse-Sakati syndrome
DCAF17 p.Arg194Gln Uncertain significance Multiple submitters
Inborn genetic diseases
DCAF17 p.Asn70Ser Uncertain significance Multiple submitters
Inborn genetic diseases
DCAF17 p.Asp109Asn Uncertain significance Multiple submitters
Woodhouse-Sakati syndrome
DCAF17 p.Cys507Arg Uncertain significance Multiple submitters
Woodhouse-Sakati syndrome
DCAF17 p.Ile122Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DCAF17 p.Ile305Val Uncertain significance Multiple submitters
Inborn genetic diseases
DCAF17 p.Ile426Thr Uncertain significance Multiple submitters
Woodhouse-Sakati syndrome
DCAF17 p.Ile490Val Uncertain significance Multiple submitters
Woodhouse-Sakati syndrome
DCAF17 p.Lys6Asn Uncertain significance Multiple submitters
Inborn genetic diseases
DCAF17 p.Tyr476His Uncertain significance Multiple submitters
Woodhouse-Sakati syndrome
DCAF17 p.Val214Ile Uncertain significance Multiple submitters
Woodhouse-Sakati syndrome
DCAF17 p.Val233Ile Uncertain significance Multiple submitters
Woodhouse-Sakati syndrome
DCAF17 p.Val439Ile Uncertain significance Multiple submitters
Woodhouse-Sakati syndrome
DCAF17 p.Val480Ile Uncertain significance Multiple submitters
Woodhouse-Sakati syndrome
DCAF17 p.Ala135Ser Uncertain significance Single submitter
Inborn genetic diseases
DCAF17 p.Ala388Thr Uncertain significance Single submitter
Inborn genetic diseases
DCAF17 p.Ala446Val Uncertain significance Single submitter
Inborn genetic diseases
DCAF17 p.Arg132Pro Uncertain significance Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Arg257Lys Uncertain significance Single submitter
Inborn genetic diseases
DCAF17 p.Arg406Leu Uncertain significance Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Arg406Trp Uncertain significance Single submitter
Inborn genetic diseases
DCAF17 p.Arg73Leu Uncertain significance Single submitter
Inborn genetic diseases
DCAF17 p.Asn113Lys Uncertain significance Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Asn309Asp Uncertain significance Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Asn309Lys Uncertain significance Single submitter
Inborn genetic diseases
DCAF17 p.Asn32Ile Uncertain significance Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Asn495Asp Uncertain significance Single submitter
Inborn genetic diseases
DCAF17 p.Asp109Val Uncertain significance Single submitter
Inborn genetic diseases
DCAF17 p.Asp116Tyr Uncertain significance Single submitter
Inborn genetic diseases
DCAF17 p.Asp216His Uncertain significance Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Cys150Gly Uncertain significance Single submitter
Inborn genetic diseases
DCAF17 p.Cys256Tyr Uncertain significance Single submitter
Inborn genetic diseases
DCAF17 p.Gln170Arg Uncertain significance Single submitter
DCAF17 p.Gln170Glu Uncertain significance Single submitter
DCAF17 p.Gln183Arg Uncertain significance Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Glu370Ala Uncertain significance Single submitter
Inborn genetic diseases
DCAF17 p.Gly202Glu Uncertain significance Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Gly298Glu Uncertain significance Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Gly2Ser Uncertain significance Single submitter
Inborn genetic diseases
DCAF17 p.Gly34Ala Uncertain significance Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.His127Tyr Uncertain significance Single submitter
Inborn genetic diseases
DCAF17 p.His185Arg Uncertain significance Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.His478Leu Uncertain significance Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Ile332Val Uncertain significance Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Ile490Thr Uncertain significance Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Leu121Phe Uncertain significance Single submitter
Inborn genetic diseases
DCAF17 p.Leu124Arg Uncertain significance Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Leu250Ile Uncertain significance Single submitter
Inborn genetic diseases
DCAF17 p.Leu340Val Uncertain significance Single submitter
Inborn genetic diseases
DCAF17 p.Lys329Thr Uncertain significance Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Lys464Asn Uncertain significance Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Met281Val Uncertain significance Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Met88Leu Uncertain significance Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Ser229Asn Uncertain significance Single submitter
Inborn genetic diseases
DCAF17 p.Ser290Cys Uncertain significance Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Ser437Ala Uncertain significance Single submitter
Inborn genetic diseases
DCAF17 p.Ser477Asn Uncertain significance Single submitter
Inborn genetic diseases
DCAF17 p.Thr218Ala Uncertain significance Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Thr307Pro Uncertain significance Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Thr45Ala Uncertain significance Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Trp51Arg Uncertain significance Single submitter
Inborn genetic diseases
DCAF17 p.Tyr429His Uncertain significance Single submitter
Inborn genetic diseases
DCAF17 p.Tyr501Cys Uncertain significance Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Tyr501Phe Uncertain significance Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Val306Ile Uncertain significance Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Val487Leu Uncertain significance Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Val502Ile Uncertain significance Single submitter
Woodhouse-Sakati syndrome

Predictors split 45

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

DCAF17 p.Ala255Gly Uncertain significance Multiple submitters
Woodhouse-Sakati syndrome
DCAF17 p.Ala440Thr Uncertain significance Multiple submitters
Inborn genetic diseases
DCAF17 p.Arg132Cys Uncertain significance Multiple submitters
Woodhouse-Sakati syndrome
DCAF17 p.Arg178Trp Uncertain significance Multiple submitters
Woodhouse-Sakati syndrome
DCAF17 p.Asn70Asp Uncertain significance Multiple submitters
Inborn genetic diseases
DCAF17 p.Glu142Lys Uncertain significance Multiple submitters
Inborn genetic diseases
DCAF17 p.Ile276Val Uncertain significance Multiple submitters
Woodhouse-Sakati syndrome
DCAF17 p.Lys46Ile Uncertain significance Multiple submitters
Inborn genetic diseases
DCAF17 p.Lys48Asn Uncertain significance Multiple submitters
Inborn genetic diseases
DCAF17 p.Ser376Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
DCAF17 p.Tyr117Cys Uncertain significance Multiple submitters
Woodhouse-Sakati syndrome
DCAF17 p.Val27Gly Uncertain significance Multiple submitters
Woodhouse-Sakati syndrome
DCAF17 p.Ala25Gly Uncertain significance Single submitter
Inborn genetic diseases
DCAF17 p.Arg132His Uncertain significance Single submitter
Inborn genetic diseases
DCAF17 p.Arg484Gly Uncertain significance Single submitter
Inborn genetic diseases
DCAF17 p.Arg72Trp Uncertain significance Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Asn32Ser Uncertain significance Single submitter
Inborn genetic diseases
DCAF17 p.Asn32Thr Conflicting Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Asp416His Uncertain significance Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Asp417His Uncertain significance Single submitter
Inborn genetic diseases
DCAF17 p.Asp418Gly Uncertain significance Single submitter
Inborn genetic diseases
DCAF17 p.Asp445Val Uncertain significance Single submitter
Inborn genetic diseases
DCAF17 p.Cys320Phe Uncertain significance Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Gln247Pro Uncertain significance Single submitter
Inborn genetic diseases
DCAF17 p.Gln379Arg Uncertain significance Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Glu514Gln Uncertain significance Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Glu62Lys Conflicting Single submitter
Inborn genetic diseases
DCAF17 p.His357Leu Uncertain significance Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Ile133Met Uncertain significance Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Ile164Thr Uncertain significance Single submitter
Inborn genetic diseases
DCAF17 p.Ile35Val Uncertain significance Single submitter
Inborn genetic diseases
DCAF17 p.Ile66Met Uncertain significance Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Leu18Met Uncertain significance Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Leu200Val Uncertain significance Single submitter
Inborn genetic diseases
DCAF17 p.Phe193Leu Conflicting Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Phe21Val Uncertain significance Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Phe245Leu Uncertain significance Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Ser339Phe Uncertain significance Single submitter
DCAF17 p.Ser465Asn Uncertain significance Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Thr509Pro Uncertain significance Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Trp344Arg Conflicting Single submitter
Inborn genetic diseases
DCAF17 p.Tyr61His Uncertain significance Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Val27Met Uncertain significance Single submitter
Woodhouse-Sakati syndrome
DCAF17 p.Val75Ala Uncertain significance Single submitter
Inborn genetic diseases
DCAF17 p.Val75Leu Uncertain significance Single submitter

All DCAF17 variants

Pathogenic 36

p.Ala147fs Multiple submitters Woodhouse-Sakati syndrome
p.Ile97fs Multiple submitters Woodhouse-Sakati syndrome
p.Trp129Ter Multiple submitters Woodhouse-Sakati syndrome
p.Trp302Ter Multiple submitters Woodhouse-Sakati syndrome
c.1091+2T>C Single submitter Woodhouse-Sakati syndrome
p.Ala351fs Single submitter Woodhouse-Sakati syndrome
p.Arg194fs Single submitter Woodhouse-Sakati syndrome
p.Asp251fs Single submitter Woodhouse-Sakati syndrome
p.Cys20Ter Single submitter Woodhouse-Sakati syndrome
p.Gln179Ter Single submitter Woodhouse-Sakati syndrome
p.Gln247Ter Single submitter Woodhouse-Sakati syndrome
p.Gly181fs Single submitter Woodhouse-Sakati syndrome
p.Gly299fs Single submitter Woodhouse-Sakati syndrome
p.His185fs Single submitter Woodhouse-Sakati syndrome
p.His357fs Single submitter Woodhouse-Sakati syndrome
p.Ile225fs Single submitter Woodhouse-Sakati syndrome
p.Leu235_Tyr236insTer Single submitter Woodhouse-Sakati syndrome
p.Leu366Ter Single submitter Woodhouse-Sakati syndrome
p.Lys84fs Single submitter Woodhouse-Sakati syndrome
p.Lys96_Ile97insTer Single submitter Woodhouse-Sakati syndrome
p.Met1Leu Single submitter Woodhouse-Sakati syndrome
p.Met1Thr Single submitter Woodhouse-Sakati syndrome
p.Phe424fs Single submitter Woodhouse-Sakati syndrome
p.Phe498fs Single submitter Woodhouse-Sakati syndrome
p.Ser376fs Single submitter Woodhouse-Sakati syndrome
p.Ser411fs Single submitter Woodhouse-Sakati syndrome
p.Thr402fs Single submitter Woodhouse-Sakati syndrome
p.Trp103Ter Single submitter Woodhouse-Sakati syndrome
p.Trp51Ter Single submitter Woodhouse-Sakati syndrome
p.Tyr346Ter Single submitter Woodhouse-Sakati syndrome
c.1091+6T>G No assertion criteria Woodhouse-Sakati syndrome
c.127-3_127-1delinsAA No assertion criteria Woodhouse-Sakati syndrome
c.1422+5G>T No assertion criteria Woodhouse-Sakati syndrome
p.Ala17fs No assertion criteria Woodhouse-Sakati syndrome
p.Lys90fs No assertion criteria Woodhouse-Sakati syndrome
p.Ser114Ter No assertion criteria Woodhouse-Sakati syndrome

Pathogenic/Likely pathogenic 6

c.127-1G>C Multiple submitters Woodhouse-Sakati syndrome
p.Arg194Ter Multiple submitters Woodhouse-Sakati syndrome
p.Arg496fs Multiple submitters neurodegeneration with brain iron accumulation
p.Gln29Ter Multiple submitters Woodhouse-Sakati syndrome
p.Gly138fs Multiple submitters Woodhouse-Sakati syndrome
p.Met1Val Multiple submitters Woodhouse-Sakati syndrome

Likely pathogenic 15

c.1092-2A>G Single submitter Woodhouse-Sakati syndrome
c.1183-2A>G Single submitter Woodhouse-Sakati syndrome
c.126+2T>G Single submitter Woodhouse-Sakati syndrome
c.1267-2A>C Single submitter Woodhouse-Sakati syndrome
c.322-2A>G Single submitter Woodhouse-Sakati syndrome
c.459-7_499del Single submitter
c.537+1G>T Single submitter Woodhouse-Sakati syndrome
c.628-2A>C Single submitter Woodhouse-Sakati syndrome
c.733-1G>C Single submitter Woodhouse-Sakati syndrome
c.839-2A>G Single submitter Woodhouse-Sakati syndrome
c.982-2A>C Single submitter Woodhouse-Sakati syndrome
p.Glu391fs Single submitter Woodhouse-Sakati syndrome
p.Lys167fs Single submitter neurodegeneration with brain iron accumulation
p.Asp343fs No assertion criteria
p.Cys91fs No assertion criteria Woodhouse-Sakati syndrome

Conflicting classifications of pathogenicity 20

c.1183-6T>C Single submitter Woodhouse-Sakati syndrome
c.1266+6G>A Single submitter Woodhouse-Sakati syndrome
c.1422+14G>A Single submitter Woodhouse-Sakati syndrome
c.230+15A>G Single submitter Woodhouse-Sakati syndrome
c.231-8T>A Single submitter Woodhouse-Sakati syndrome
c.322-14C>T Single submitter Woodhouse-Sakati syndrome
c.322-14del Single submitter Woodhouse-Sakati syndrome
c.322-15dup Single submitter Woodhouse-Sakati syndrome
c.732+70del Single submitter Woodhouse-Sakati syndrome
c.-213C>T Single submitter Woodhouse-Sakati syndrome
c.*1841G>T Single submitter Woodhouse-Sakati syndrome
p.Arg153= Single submitter Woodhouse-Sakati syndrome
p.Arg178Gln Single submitter Woodhouse-Sakati syndrome ⚠
p.Arg73Cys Single submitter Inborn genetic diseases ⚠
p.Asn32Thr Single submitter Woodhouse-Sakati syndrome ⚠
p.Glu62Lys Single submitter Inborn genetic diseases ⚠
p.Gly64= Single submitter Woodhouse-Sakati syndrome
p.Phe193Leu Single submitter Woodhouse-Sakati syndrome ⚠
p.Thr264= Single submitter Woodhouse-Sakati syndrome
p.Trp344Arg Single submitter Inborn genetic diseases ⚠

Benign 58

c.1092-75C>T Multiple submitters
c.1267-269G>A Multiple submitters
c.1267-7C>T Multiple submitters Woodhouse-Sakati syndrome
c.322-99T>C Multiple submitters
c.538-128T>A Multiple submitters
c.732+70dup Multiple submitters Woodhouse-Sakati syndrome
c.*2340C>T Multiple submitters Woodhouse-Sakati syndrome
c.*2425T>A Multiple submitters Woodhouse-Sakati syndrome
c.*2775G>T Multiple submitters Woodhouse-Sakati syndrome
c.*2795T>C Multiple submitters Woodhouse-Sakati syndrome
c.*3112C>G Multiple submitters Woodhouse-Sakati syndrome
c.*350G>A Multiple submitters Woodhouse-Sakati syndrome
c.*3703A>G Multiple submitters Woodhouse-Sakati syndrome
c.*570G>A Multiple submitters Woodhouse-Sakati syndrome
c.*676T>G Multiple submitters Woodhouse-Sakati syndrome
p.Gln313= Multiple submitters Woodhouse-Sakati syndrome
p.Gln333= Multiple submitters Woodhouse-Sakati syndrome
p.Val50= Multiple submitters Woodhouse-Sakati syndrome
c.1182+192C>A Single submitter
c.126+21del Single submitter Woodhouse-Sakati syndrome
c.1266+14C>T Single submitter Woodhouse-Sakati syndrome
c.1266+51T>A Single submitter
c.127-3dup Single submitter Woodhouse-Sakati syndrome
c.1422+280G>A Single submitter
c.1422+306A>G Single submitter
c.230+10del Single submitter Woodhouse-Sakati syndrome
c.231-174_231-173insA Single submitter
c.322-252_322-251insAAC Single submitter
c.322-3del Single submitter Woodhouse-Sakati syndrome
c.322-3dup Single submitter Woodhouse-Sakati syndrome
c.322-4_322-3del Single submitter Woodhouse-Sakati syndrome
c.322-5_322-3dup Single submitter Woodhouse-Sakati syndrome
c.459-19_459-17del Single submitter Woodhouse-Sakati syndrome
c.459-190A>G Single submitter
c.459-241G>A Single submitter
c.537+223C>T Single submitter
c.628-227G>A Single submitter
c.628-37T>G Single submitter
c.628-6del Single submitter Woodhouse-Sakati syndrome
c.838+2066A>T Single submitter
c.838+224C>T Single submitter
c.838+25dup Single submitter Woodhouse-Sakati syndrome
c.839-236C>T Single submitter
c.839-258A>G Single submitter
c.982-241del Single submitter
c.982-299C>A Single submitter
c.982-300dup Single submitter
c.*1005A>G Single submitter Woodhouse-Sakati syndrome
c.*1034G>A Single submitter Woodhouse-Sakati syndrome
c.*1521A>G Single submitter Woodhouse-Sakati syndrome
c.*1965A>G Single submitter Woodhouse-Sakati syndrome
c.*2183C>G Single submitter Woodhouse-Sakati syndrome
c.*2348G>A Single submitter Woodhouse-Sakati syndrome
c.*2473G>A Single submitter Woodhouse-Sakati syndrome
c.*3712A>G Single submitter Woodhouse-Sakati syndrome
c.*378T>C Single submitter Woodhouse-Sakati syndrome
c.*3829G>A Single submitter Woodhouse-Sakati syndrome
p.Gly34= Single submitter Woodhouse-Sakati syndrome

Benign/Likely benign 6

c.127-15C>A Multiple submitters Woodhouse-Sakati syndrome
c.322-14_322-11del Multiple submitters Woodhouse-Sakati syndrome
c.537+16C>T Multiple submitters Woodhouse-Sakati syndrome
c.*188T>A Multiple submitters Woodhouse-Sakati syndrome
p.Ala440= Multiple submitters Woodhouse-Sakati syndrome
p.His185Gln Multiple submitters Woodhouse-Sakati syndrome

Likely benign 257

c.1183-108G>A Multiple submitters
c.322-15_322-14insTT Multiple submitters Woodhouse-Sakati syndrome
c.537+196T>C Multiple submitters
c.838+126A>T Multiple submitters
p.Asn213= Multiple submitters Woodhouse-Sakati syndrome
p.Asn361= Multiple submitters Woodhouse-Sakati syndrome
p.Glu491= Multiple submitters Woodhouse-Sakati syndrome
p.His357= Multiple submitters Woodhouse-Sakati syndrome
p.Pro58= Multiple submitters Woodhouse-Sakati syndrome
p.Thr475= Multiple submitters Woodhouse-Sakati syndrome
c.1091+17G>A Single submitter Woodhouse-Sakati syndrome
c.1091+19A>G Single submitter Woodhouse-Sakati syndrome
c.1092-10C>T Single submitter Woodhouse-Sakati syndrome
c.1092-16C>A Single submitter Woodhouse-Sakati syndrome
c.1092-19A>T Single submitter Woodhouse-Sakati syndrome
c.1092-8C>G Single submitter Woodhouse-Sakati syndrome
c.1092-9C>T Single submitter Woodhouse-Sakati syndrome
c.1182+13T>A Single submitter Woodhouse-Sakati syndrome
c.1182+13T>G Single submitter Woodhouse-Sakati syndrome
c.1182+18T>C Single submitter Woodhouse-Sakati syndrome
c.1182+236_1182+240del Single submitter
c.1182+7C>A Single submitter Woodhouse-Sakati syndrome
c.1182+7C>T Single submitter Woodhouse-Sakati syndrome
c.1183-13T>C Single submitter Woodhouse-Sakati syndrome
c.1183-4A>G Single submitter Woodhouse-Sakati syndrome
c.1183-4A>T Single submitter Woodhouse-Sakati syndrome
c.1183-5G>T Single submitter Woodhouse-Sakati syndrome
c.1183-7A>C Single submitter Woodhouse-Sakati syndrome
c.1183-7A>G Single submitter Woodhouse-Sakati syndrome
c.1183-9A>C Single submitter Woodhouse-Sakati syndrome
c.1183-9A>G Single submitter Woodhouse-Sakati syndrome
c.126+11G>A Single submitter Woodhouse-Sakati syndrome
c.126+11G>C Single submitter Woodhouse-Sakati syndrome
c.126+12C>G Single submitter Woodhouse-Sakati syndrome
c.126+15G>A Single submitter Woodhouse-Sakati syndrome
c.126+17C>T Single submitter Woodhouse-Sakati syndrome
c.126+18G>A Single submitter Woodhouse-Sakati syndrome
c.126+19_126+36dup Single submitter Woodhouse-Sakati syndrome
c.126+19G>T Single submitter Woodhouse-Sakati syndrome
c.126+7G>C Single submitter Woodhouse-Sakati syndrome
c.1266+13C>T Single submitter Woodhouse-Sakati syndrome
c.1266+15A>G Single submitter Woodhouse-Sakati syndrome
c.1266+17A>G Single submitter Woodhouse-Sakati syndrome
c.1266+19A>G Single submitter Woodhouse-Sakati syndrome
c.1266+20T>A Single submitter Woodhouse-Sakati syndrome
c.1267-13A>G Single submitter Woodhouse-Sakati syndrome
c.1267-17A>G Single submitter Woodhouse-Sakati syndrome
c.1267-18TATC[2] Single submitter Woodhouse-Sakati syndrome
c.1267-9A>G Single submitter Woodhouse-Sakati syndrome
c.127-11A>G Single submitter Woodhouse-Sakati syndrome
c.127-15C>T Single submitter Woodhouse-Sakati syndrome
c.127-18A>G Single submitter Woodhouse-Sakati syndrome
c.127-49T>G Single submitter
c.1422+13C>T Single submitter Woodhouse-Sakati syndrome
c.1422+17G>A Single submitter Woodhouse-Sakati syndrome
c.1422+18G>A Single submitter Woodhouse-Sakati syndrome
c.1422+18G>T Single submitter Woodhouse-Sakati syndrome
c.1422+19A>G Single submitter Woodhouse-Sakati syndrome
c.1422+19A>T Single submitter Woodhouse-Sakati syndrome
c.1422+8G>T Single submitter Woodhouse-Sakati syndrome
c.1423-14G>A Single submitter Woodhouse-Sakati syndrome
c.1423-206C>A Single submitter
c.1423-20A>G Single submitter Woodhouse-Sakati syndrome
c.1423-221C>T Single submitter
c.1423-23C>G Single submitter
c.1423-4A>G Single submitter Woodhouse-Sakati syndrome
c.1423-7G>T Single submitter Woodhouse-Sakati syndrome
c.230+11A>G Single submitter Woodhouse-Sakati syndrome
c.230+13T>C Single submitter Woodhouse-Sakati syndrome
c.230+14del Single submitter Woodhouse-Sakati syndrome
c.230+17_230+18insT Single submitter Woodhouse-Sakati syndrome
c.230+18A>T Single submitter Woodhouse-Sakati syndrome
c.230+9_230+10del Single submitter Woodhouse-Sakati syndrome
c.231-11T>G Single submitter Woodhouse-Sakati syndrome
c.231-13T>A Single submitter Woodhouse-Sakati syndrome
c.231-4C>T Single submitter Woodhouse-Sakati syndrome
c.231-7T>C Single submitter Woodhouse-Sakati syndrome
c.231-8T>C Single submitter
c.231-9T>G Single submitter Woodhouse-Sakati syndrome
c.321+11T>C Single submitter Woodhouse-Sakati syndrome
c.321+12T>C Single submitter Woodhouse-Sakati syndrome
c.321+13T>A Single submitter Woodhouse-Sakati syndrome
c.321+15T>C Single submitter Woodhouse-Sakati syndrome
c.321+17G>A Single submitter Woodhouse-Sakati syndrome
c.321+18A>T Single submitter Woodhouse-Sakati syndrome
c.321+20C>A Single submitter Woodhouse-Sakati syndrome
c.321+20C>T Single submitter Woodhouse-Sakati syndrome
c.321+226del Single submitter
c.322-12T>C Single submitter Woodhouse-Sakati syndrome
c.322-15T>C Single submitter Woodhouse-Sakati syndrome
c.322-16C>T Single submitter Woodhouse-Sakati syndrome
c.322-17_322-16insG Single submitter Woodhouse-Sakati syndrome
c.322-18C>A Single submitter Woodhouse-Sakati syndrome
c.322-19T>C Single submitter Woodhouse-Sakati syndrome
c.322-19TC[2] Single submitter Woodhouse-Sakati syndrome
c.322-20A>C Single submitter Woodhouse-Sakati syndrome
c.322-20A>G Single submitter Woodhouse-Sakati syndrome
c.322-7T>G Single submitter Woodhouse-Sakati syndrome
c.322-8T>G Single submitter Woodhouse-Sakati syndrome
c.458+19T>C Single submitter Woodhouse-Sakati syndrome
c.458+202dup Single submitter
c.458+7A>G Single submitter Woodhouse-Sakati syndrome
c.458+8C>T Single submitter Woodhouse-Sakati syndrome
c.459-13A>G Single submitter Woodhouse-Sakati syndrome
c.459-20_459-18del Single submitter Woodhouse-Sakati syndrome
c.537+20C>G Single submitter Woodhouse-Sakati syndrome
c.537+7A>G Single submitter Woodhouse-Sakati syndrome
c.537+8_537+21del Single submitter Woodhouse-Sakati syndrome
c.538-15_538-13del Single submitter Woodhouse-Sakati syndrome
c.538-16T>C Single submitter Woodhouse-Sakati syndrome
c.627+10C>A Single submitter Woodhouse-Sakati syndrome
c.627+11A>G Single submitter Woodhouse-Sakati syndrome
c.627+13T>C Single submitter Woodhouse-Sakati syndrome
c.627+17T>C Single submitter Woodhouse-Sakati syndrome
c.627+19T>C Single submitter Woodhouse-Sakati syndrome
c.627+223G>A Single submitter
c.627+8C>T Single submitter Woodhouse-Sakati syndrome
c.628-11C>A Single submitter Woodhouse-Sakati syndrome
c.628-20T>C Single submitter Woodhouse-Sakati syndrome
c.628-5G>A Single submitter Woodhouse-Sakati syndrome
c.628-6C>T Single submitter Woodhouse-Sakati syndrome
c.732+11C>T Single submitter Woodhouse-Sakati syndrome
c.732+16A>G Single submitter Woodhouse-Sakati syndrome
c.732+18T>G Single submitter Woodhouse-Sakati syndrome
c.732+19T>C Single submitter Woodhouse-Sakati syndrome
c.732+20G>A Single submitter Woodhouse-Sakati syndrome
c.732+9A>G Single submitter Woodhouse-Sakati syndrome
c.733-16T>C Single submitter Woodhouse-Sakati syndrome
c.733-20T>A Single submitter Woodhouse-Sakati syndrome
c.733-22TTTTG[2] Single submitter Woodhouse-Sakati syndrome
c.838+118A>G Single submitter
c.838+11del Single submitter Woodhouse-Sakati syndrome
c.838+12C>G Single submitter Woodhouse-Sakati syndrome
c.838+14A>C Single submitter Woodhouse-Sakati syndrome
c.838+14A>G Single submitter Woodhouse-Sakati syndrome
c.839-14T>A Single submitter Woodhouse-Sakati syndrome
c.839-19C>A Single submitter Woodhouse-Sakati syndrome
c.839-9T>C Single submitter Woodhouse-Sakati syndrome
c.981+10del Single submitter Woodhouse-Sakati syndrome
c.981+15A>G Single submitter Woodhouse-Sakati syndrome
c.981+16G>A Single submitter Woodhouse-Sakati syndrome
c.981+16G>T Single submitter Woodhouse-Sakati syndrome
c.981+20T>C Single submitter Woodhouse-Sakati syndrome
c.981+22_981+23del Single submitter Woodhouse-Sakati syndrome
c.982-18A>G Single submitter Woodhouse-Sakati syndrome
c.982-20A>T Single submitter Woodhouse-Sakati syndrome
c.982-251T>C Single submitter
c.*15T>C Single submitter Woodhouse-Sakati syndrome
c.*2429A>G Single submitter Woodhouse-Sakati syndrome
c.*2591A>G Single submitter Woodhouse-Sakati syndrome
c.*3705A>G Single submitter Woodhouse-Sakati syndrome
c.*530A>G Single submitter Woodhouse-Sakati syndrome
c.*677C>A Single submitter Woodhouse-Sakati syndrome
p.Ala100= Single submitter Woodhouse-Sakati syndrome
p.Ala126= Single submitter Woodhouse-Sakati syndrome
p.Ala147= Single submitter Woodhouse-Sakati syndrome
p.Ala165= Single submitter Woodhouse-Sakati syndrome
p.Ala169= Single submitter Woodhouse-Sakati syndrome
p.Ala17= Single submitter Woodhouse-Sakati syndrome
p.Ala177= Single submitter Woodhouse-Sakati syndrome
p.Ala191= Single submitter Woodhouse-Sakati syndrome
p.Ala351= Single submitter Woodhouse-Sakati syndrome
p.Ala450= Single submitter Woodhouse-Sakati syndrome
p.Ala60= Single submitter Woodhouse-Sakati syndrome
p.Arg15= Single submitter Woodhouse-Sakati syndrome
p.Arg16= Single submitter Woodhouse-Sakati syndrome
p.Arg23= Single submitter Woodhouse-Sakati syndrome
p.Arg234= Single submitter Woodhouse-Sakati syndrome
p.Arg30= Single submitter Woodhouse-Sakati syndrome
p.Arg37= Single submitter Woodhouse-Sakati syndrome
p.Arg5= Single submitter Woodhouse-Sakati syndrome
p.Arg72= Single submitter Woodhouse-Sakati syndrome
p.Arg83= Single submitter Woodhouse-Sakati syndrome
p.Asn128= Single submitter Woodhouse-Sakati syndrome
p.Asn70= Single submitter Woodhouse-Sakati syndrome
p.Asp158= Single submitter Woodhouse-Sakati syndrome
p.Asp428= Single submitter Woodhouse-Sakati syndrome
p.Asp69= Single submitter Woodhouse-Sakati syndrome
p.Cys20= Single submitter Woodhouse-Sakati syndrome
p.Cys520= Single submitter Woodhouse-Sakati syndrome
p.Gln161= Single submitter Woodhouse-Sakati syndrome
p.Gln183= Single submitter Woodhouse-Sakati syndrome
p.Gln248= Single submitter Woodhouse-Sakati syndrome
p.Gln29= Single submitter Woodhouse-Sakati syndrome
p.Gln504= Single submitter Woodhouse-Sakati syndrome
p.Glu287= Single submitter Woodhouse-Sakati syndrome
p.Glu420= Single submitter Woodhouse-Sakati syndrome
p.Glu511= Single submitter Woodhouse-Sakati syndrome
p.Glu87= Single submitter Woodhouse-Sakati syndrome
p.Glu98= Single submitter Woodhouse-Sakati syndrome
p.Gly19= Single submitter Woodhouse-Sakati syndrome
p.Gly253= Single submitter Woodhouse-Sakati syndrome
p.Gly259= Single submitter Woodhouse-Sakati syndrome
p.Gly26= Single submitter Woodhouse-Sakati syndrome
p.Gly510= Single submitter Woodhouse-Sakati syndrome
p.His221= Single submitter Woodhouse-Sakati syndrome
p.His489= Single submitter Woodhouse-Sakati syndrome
p.Ile110= Single submitter Woodhouse-Sakati syndrome
p.Ile210= Single submitter Woodhouse-Sakati syndrome
p.Ile241= Single submitter Woodhouse-Sakati syndrome
p.Ile305= Single submitter Woodhouse-Sakati syndrome
p.Ile426= Single submitter Woodhouse-Sakati syndrome
p.Ile444= Single submitter Woodhouse-Sakati syndrome
p.Leu102= Single submitter Woodhouse-Sakati syndrome
p.Leu121= Single submitter Woodhouse-Sakati syndrome
p.Leu141= Single submitter Woodhouse-Sakati syndrome
p.Leu18= Single submitter Woodhouse-Sakati syndrome
p.Leu188= Single submitter Woodhouse-Sakati syndrome
p.Leu196= Single submitter Woodhouse-Sakati syndrome
p.Leu200= Single submitter Woodhouse-Sakati syndrome
p.Leu235= Single submitter Woodhouse-Sakati syndrome
p.Leu291= Single submitter Woodhouse-Sakati syndrome
p.Leu322= Single submitter Woodhouse-Sakati syndrome
p.Leu33= Single submitter Woodhouse-Sakati syndrome
p.Leu36= Single submitter Woodhouse-Sakati syndrome
p.Leu39= Single submitter Woodhouse-Sakati syndrome
p.Leu486= Single submitter Woodhouse-Sakati syndrome
p.Lys425= Single submitter Woodhouse-Sakati syndrome
p.Lys46= Single submitter Woodhouse-Sakati syndrome
p.Lys6Gln Single submitter Woodhouse-Sakati syndrome
p.Phe193= Single submitter Woodhouse-Sakati syndrome
p.Phe270= Single submitter Woodhouse-Sakati syndrome
p.Pro197= Single submitter Woodhouse-Sakati syndrome
p.Pro3= Single submitter Woodhouse-Sakati syndrome
p.Pro349= Single submitter Woodhouse-Sakati syndrome
p.Pro467= Single submitter Woodhouse-Sakati syndrome
p.Pro7= Single submitter Woodhouse-Sakati syndrome
p.Ser168= Single submitter Woodhouse-Sakati syndrome
p.Ser199= Single submitter Woodhouse-Sakati syndrome
p.Ser220= Single submitter
p.Ser290= Single submitter Woodhouse-Sakati syndrome
p.Ser404= Single submitter Woodhouse-Sakati syndrome
p.Ser465= Single submitter Woodhouse-Sakati syndrome
p.Ser519= Single submitter Woodhouse-Sakati syndrome
p.Ser80= Single submitter Woodhouse-Sakati syndrome
p.Ser92= Single submitter Woodhouse-Sakati syndrome
p.Thr137= Single submitter Woodhouse-Sakati syndrome
p.Thr218= Single submitter Woodhouse-Sakati syndrome
p.Thr262= Single submitter Woodhouse-Sakati syndrome
p.Thr307= Single submitter Woodhouse-Sakati syndrome
p.Thr400= Single submitter Woodhouse-Sakati syndrome
p.Thr45= Single submitter Woodhouse-Sakati syndrome
p.Thr509= Single submitter Woodhouse-Sakati syndrome
p.Tyr145= Single submitter Woodhouse-Sakati syndrome
p.Tyr149= Single submitter Woodhouse-Sakati syndrome
p.Tyr236= Single submitter Woodhouse-Sakati syndrome
p.Tyr429= Single submitter Woodhouse-Sakati syndrome
p.Tyr476= Single submitter Woodhouse-Sakati syndrome
p.Tyr86= Single submitter Woodhouse-Sakati syndrome
p.Val192= Single submitter Woodhouse-Sakati syndrome
p.Val27= Single submitter Woodhouse-Sakati syndrome
p.Val288= Single submitter Woodhouse-Sakati syndrome
p.Val316= Single submitter Woodhouse-Sakati syndrome
p.Val408= Single submitter Woodhouse-Sakati syndrome
p.Val480= Single submitter Woodhouse-Sakati syndrome
p.Val9= Single submitter Woodhouse-Sakati syndrome
c.322-20_322-19del No assertion criteria DCAF17-related disorder

Uncertain significance 169

c.1266+4T>C Multiple submitters Woodhouse-Sakati syndrome
c.*126A>T Multiple submitters Woodhouse-Sakati syndrome
p.Ala242Thr Multiple submitters Woodhouse-Sakati syndrome ⚠
p.Ala255Gly Multiple submitters Woodhouse-Sakati syndrome ⚠
p.Ala440Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg132Cys Multiple submitters Woodhouse-Sakati syndrome ⚠
p.Arg178Trp Multiple submitters Woodhouse-Sakati syndrome ⚠
p.Arg194Gln Multiple submitters Inborn genetic diseases ⚠
p.Asn70Asp Multiple submitters Inborn genetic diseases ⚠
p.Asn70Ser Multiple submitters Inborn genetic diseases ⚠
p.Asp109Asn Multiple submitters Woodhouse-Sakati syndrome ⚠
p.Cys507Arg Multiple submitters Woodhouse-Sakati syndrome ⚠
p.Glu142Lys Multiple submitters Inborn genetic diseases ⚠
p.Ile122Leu Multiple submitters Inborn genetic diseases ⚠
p.Ile276Val Multiple submitters Woodhouse-Sakati syndrome ⚠
p.Ile305Val Multiple submitters Inborn genetic diseases ⚠
p.Ile426Thr Multiple submitters Woodhouse-Sakati syndrome ⚠
p.Ile490Val Multiple submitters Woodhouse-Sakati syndrome ⚠
p.Lys46Ile Multiple submitters Inborn genetic diseases ⚠
p.Lys48Asn Multiple submitters Inborn genetic diseases ⚠
p.Lys6Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser376Tyr Multiple submitters Inborn genetic diseases ⚠
p.Tyr117Cys Multiple submitters Woodhouse-Sakati syndrome ⚠
p.Tyr476His Multiple submitters Woodhouse-Sakati syndrome ⚠
p.Val214Ile Multiple submitters Woodhouse-Sakati syndrome ⚠
p.Val233Ile Multiple submitters Woodhouse-Sakati syndrome ⚠
p.Val27Gly Multiple submitters Woodhouse-Sakati syndrome ⚠
p.Val439Ile Multiple submitters Woodhouse-Sakati syndrome ⚠
p.Val480Ile Multiple submitters Woodhouse-Sakati syndrome ⚠
c.1091+13A>G Single submitter Woodhouse-Sakati syndrome
c.126+6C>G Single submitter Woodhouse-Sakati syndrome
c.1422+3G>A Single submitter Woodhouse-Sakati syndrome
c.230+3A>G Single submitter Woodhouse-Sakati syndrome
c.-111G>T Single submitter Woodhouse-Sakati syndrome
c.-198T>C Single submitter Woodhouse-Sakati syndrome
c.-204C>T Single submitter Woodhouse-Sakati syndrome
c.-206C>G Single submitter Woodhouse-Sakati syndrome
c.-212C>T Single submitter Woodhouse-Sakati syndrome
c.-222G>A Single submitter Woodhouse-Sakati syndrome
c.-232C>T Single submitter Woodhouse-Sakati syndrome
c.-243C>G Single submitter Woodhouse-Sakati syndrome
c.-9C>G Single submitter Woodhouse-Sakati syndrome
c.*105A>G Single submitter Woodhouse-Sakati syndrome
c.*1120A>T Single submitter Woodhouse-Sakati syndrome
c.*1124G>A Single submitter Woodhouse-Sakati syndrome
c.*1165C>G Single submitter Woodhouse-Sakati syndrome
c.*1370C>T Single submitter Woodhouse-Sakati syndrome
c.*1531T>C Single submitter Woodhouse-Sakati syndrome
c.*153C>G Single submitter Woodhouse-Sakati syndrome
c.*1540C>T Single submitter Woodhouse-Sakati syndrome
c.*1557T>A Single submitter Woodhouse-Sakati syndrome
c.*1692G>C Single submitter Woodhouse-Sakati syndrome
c.*1747C>A Single submitter Woodhouse-Sakati syndrome
c.*2066A>G Single submitter Woodhouse-Sakati syndrome
c.*2113C>A Single submitter Woodhouse-Sakati syndrome
c.*211C>A Single submitter Woodhouse-Sakati syndrome
c.*2202A>G Single submitter Woodhouse-Sakati syndrome
c.*2241T>C Single submitter Woodhouse-Sakati syndrome
c.*2292G>A Single submitter Woodhouse-Sakati syndrome
c.*2303G>A Single submitter Woodhouse-Sakati syndrome
c.*2312G>A Single submitter Woodhouse-Sakati syndrome
c.*2318C>T Single submitter Woodhouse-Sakati syndrome
c.*2380A>G Single submitter Woodhouse-Sakati syndrome
c.*2535C>A Single submitter Woodhouse-Sakati syndrome
c.*2623T>G Single submitter Woodhouse-Sakati syndrome
c.*2747C>T Single submitter Woodhouse-Sakati syndrome
c.*2943C>T Single submitter Woodhouse-Sakati syndrome
c.*2947A>C Single submitter Woodhouse-Sakati syndrome
c.*2971A>G Single submitter Woodhouse-Sakati syndrome
c.*2976A>G Single submitter Woodhouse-Sakati syndrome
c.*3022A>G Single submitter Woodhouse-Sakati syndrome
c.*3107A>G Single submitter Woodhouse-Sakati syndrome
c.*3170A>G Single submitter Woodhouse-Sakati syndrome
c.*3453A>G Single submitter Woodhouse-Sakati syndrome
c.*3551C>T Single submitter Woodhouse-Sakati syndrome
c.*3811A>G Single submitter Woodhouse-Sakati syndrome
c.*3835A>G Single submitter Woodhouse-Sakati syndrome
c.*3880G>T Single submitter Woodhouse-Sakati syndrome
c.*3946G>A Single submitter Woodhouse-Sakati syndrome
c.*423T>C Single submitter Woodhouse-Sakati syndrome
c.*432C>G Single submitter Woodhouse-Sakati syndrome
c.*48A>T Single submitter Woodhouse-Sakati syndrome
c.*808T>A Single submitter Woodhouse-Sakati syndrome
c.*864A>G Single submitter Woodhouse-Sakati syndrome
c.*876G>C Single submitter Woodhouse-Sakati syndrome
c.*926G>T Single submitter Woodhouse-Sakati syndrome
p.Ala135Ser Single submitter Inborn genetic diseases ⚠
p.Ala25Gly Single submitter Inborn genetic diseases ⚠
p.Ala388Thr Single submitter Inborn genetic diseases ⚠
p.Ala446Val Single submitter Inborn genetic diseases ⚠
p.Arg132His Single submitter Inborn genetic diseases ⚠
p.Arg132Pro Single submitter Woodhouse-Sakati syndrome ⚠
p.Arg257Lys Single submitter Inborn genetic diseases ⚠
p.Arg406Leu Single submitter Woodhouse-Sakati syndrome ⚠
p.Arg406Trp Single submitter Inborn genetic diseases ⚠
p.Arg484Gly Single submitter Inborn genetic diseases ⚠
p.Arg72Trp Single submitter Woodhouse-Sakati syndrome ⚠
p.Arg73Leu Single submitter Inborn genetic diseases ⚠
p.Asn113Lys Single submitter Woodhouse-Sakati syndrome ⚠
p.Asn309Asp Single submitter Woodhouse-Sakati syndrome ⚠
p.Asn309Lys Single submitter Inborn genetic diseases ⚠
p.Asn32Ile Single submitter Woodhouse-Sakati syndrome ⚠
p.Asn32Ser Single submitter Inborn genetic diseases ⚠
p.Asn495Asp Single submitter Inborn genetic diseases ⚠
p.Asp109Val Single submitter Inborn genetic diseases ⚠
p.Asp116Tyr Single submitter Inborn genetic diseases ⚠
p.Asp216His Single submitter Woodhouse-Sakati syndrome ⚠
p.Asp416His Single submitter Woodhouse-Sakati syndrome ⚠
p.Asp417His Single submitter Inborn genetic diseases ⚠
p.Asp418Gly Single submitter Inborn genetic diseases ⚠
p.Asp445Val Single submitter Inborn genetic diseases ⚠
p.Cys150Gly Single submitter Inborn genetic diseases ⚠
p.Cys256Tyr Single submitter Inborn genetic diseases ⚠
p.Cys320Phe Single submitter Woodhouse-Sakati syndrome ⚠
p.Gln170Arg Single submitter ⚠
p.Gln170Glu Single submitter ⚠
p.Gln183Arg Single submitter Woodhouse-Sakati syndrome ⚠
p.Gln247Pro Single submitter Inborn genetic diseases ⚠
p.Gln379Arg Single submitter Woodhouse-Sakati syndrome ⚠
p.Glu370Ala Single submitter Inborn genetic diseases ⚠
p.Glu514Gln Single submitter Woodhouse-Sakati syndrome ⚠
p.Gly202Glu Single submitter Woodhouse-Sakati syndrome ⚠
p.Gly298Glu Single submitter Woodhouse-Sakati syndrome ⚠
p.Gly2Ser Single submitter Inborn genetic diseases ⚠
p.Gly34Ala Single submitter Woodhouse-Sakati syndrome ⚠
p.His127Tyr Single submitter Inborn genetic diseases ⚠
p.His185Arg Single submitter Woodhouse-Sakati syndrome ⚠
p.His357Leu Single submitter Woodhouse-Sakati syndrome ⚠
p.His478Leu Single submitter Woodhouse-Sakati syndrome ⚠
p.Ile133Met Single submitter Woodhouse-Sakati syndrome ⚠
p.Ile164Thr Single submitter Inborn genetic diseases ⚠
p.Ile332Val Single submitter Woodhouse-Sakati syndrome ⚠
p.Ile35Val Single submitter Inborn genetic diseases ⚠
p.Ile490Thr Single submitter Woodhouse-Sakati syndrome ⚠
p.Ile66Met Single submitter Woodhouse-Sakati syndrome ⚠
p.Leu121Phe Single submitter Inborn genetic diseases ⚠
p.Leu124Arg Single submitter Woodhouse-Sakati syndrome ⚠
p.Leu18Met Single submitter Woodhouse-Sakati syndrome ⚠
p.Leu200Val Single submitter Inborn genetic diseases ⚠
p.Leu250Ile Single submitter Inborn genetic diseases ⚠
p.Leu340Val Single submitter Inborn genetic diseases ⚠
p.Lys312del Single submitter
p.Lys329Thr Single submitter Woodhouse-Sakati syndrome ⚠
p.Lys464Asn Single submitter Woodhouse-Sakati syndrome ⚠
p.Met281Val Single submitter Woodhouse-Sakati syndrome ⚠
p.Met88Leu Single submitter Woodhouse-Sakati syndrome ⚠
p.Phe21Val Single submitter Woodhouse-Sakati syndrome ⚠
p.Phe245Leu Single submitter Woodhouse-Sakati syndrome ⚠
p.Ser229Asn Single submitter Inborn genetic diseases ⚠
p.Ser290Cys Single submitter Woodhouse-Sakati syndrome ⚠
p.Ser339Phe Single submitter ⚠
p.Ser437Ala Single submitter Inborn genetic diseases ⚠
p.Ser465Asn Single submitter Woodhouse-Sakati syndrome ⚠
p.Ser477Asn Single submitter Inborn genetic diseases ⚠
p.Thr218Ala Single submitter Woodhouse-Sakati syndrome ⚠
p.Thr307Pro Single submitter Woodhouse-Sakati syndrome ⚠
p.Thr45Ala Single submitter Woodhouse-Sakati syndrome ⚠
p.Thr509Pro Single submitter Woodhouse-Sakati syndrome ⚠
p.Trp51Arg Single submitter Inborn genetic diseases ⚠
p.Tyr429His Single submitter Inborn genetic diseases ⚠
p.Tyr501Cys Single submitter Woodhouse-Sakati syndrome ⚠
p.Tyr501Phe Single submitter Woodhouse-Sakati syndrome ⚠
p.Tyr61His Single submitter Woodhouse-Sakati syndrome ⚠
p.Val27Met Single submitter Woodhouse-Sakati syndrome ⚠
p.Val306Ile Single submitter Woodhouse-Sakati syndrome ⚠
p.Val487Leu Single submitter Woodhouse-Sakati syndrome ⚠
p.Val502Ile Single submitter Woodhouse-Sakati syndrome ⚠
p.Val75Ala Single submitter Inborn genetic diseases ⚠
p.Val75Leu Single submitter ⚠