Sugi Variant

Sugi Variant/ZDHHC9

ZDHHC9 — 294 ClinVar variants

All ClinVar germline ZDHHC9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 117 flagged for review →

9 Pathogenic · 3 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 9 Conflicting · 29 Benign · 14 Benign/Likely benign · 100 Likely benign · 120 Uncertain significance

Full ZDHHC9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 117

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 8

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

Predictors lean, ClinVar uncertain 94

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

Predictors split 15

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

All ZDHHC9 variants

Pathogenic 9

  • p.Arg121Ter Multiple submitters syndromic X-linked intellectual disability Raymond type
  • p.Arg96Trp Multiple submitters syndromic X-linked intellectual disability Raymond type
  • c.328+1G>A Single submitter
  • p.Leu249fs Single submitter Inborn genetic diseases
  • p.Val226_Leu227insTer Single submitter Inborn genetic diseases
  • p.Val240fs Single submitter
  • c.167+5G>C No assertion criteria syndromic X-linked intellectual disability Raymond type
  • p.Arg58fs No assertion criteria syndromic X-linked intellectual disability Raymond type
  • p.Pro150Ser No assertion criteria syndromic X-linked intellectual disability Raymond type

Pathogenic/Likely pathogenic 3

  • p.Arg148Trp Multiple submitters syndromic X-linked intellectual disability Raymond type
  • p.Arg298Ter Multiple submitters Inborn genetic diseases
  • p.Ser89fs Multiple submitters syndromic X-linked intellectual disability Raymond type

Likely pathogenic 10

  • c.167+1G>A Single submitter syndromic X-linked intellectual disability Raymond type
  • c.488-2A>G Single submitter syndromic X-linked intellectual disability Raymond type
  • c.777+1G>A Single submitter syndromic X-linked intellectual disability Raymond type
  • c.881+1G>C Single submitter intellectual disability
  • p.Asp90Asn Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Gln271Ter Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Glu285Ter Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Leu84Ser Single submitter
  • p.Trp237Ter Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Trp264Ter Single submitter

Conflicting classifications of pathogenicity 9

  • c.881+3G>A Single submitter autism spectrum disorder
  • p.Ala54Thr Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Arg182Cys Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Asp166Asn Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Glu345Ala Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Pro349Ser Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Thr255Lys Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Val240Leu Single submitter Inborn genetic diseases ⚠
  • p.Val270Ile Single submitter syndromic X-linked intellectual disability Raymond type ⚠

Benign 29

  • c.167+33T>C Multiple submitters
  • c.487+14C>T Multiple submitters syndromic X-linked intellectual disability Raymond type
  • c.487+15A>G Multiple submitters syndromic X-linked intellectual disability Raymond type
  • c.487+204C>T Multiple submitters
  • c.488-122A>G Multiple submitters
  • c.675-22A>G Multiple submitters
  • c.675-80C>A Multiple submitters
  • c.882-62G>A Multiple submitters
  • c.*105C>T Multiple submitters
  • c.167+9C>T Single submitter syndromic X-linked intellectual disability Raymond type
  • c.328+145C>T Single submitter
  • c.329-222dup Single submitter
  • c.488-127del Single submitter
  • c.488-141dup Single submitter
  • c.488-15C>G Single submitter syndromic X-linked intellectual disability Raymond type
  • c.488-19CT[3] Single submitter syndromic X-linked intellectual disability Raymond type
  • c.625+123A>G Single submitter
  • c.674+10G>A Single submitter syndromic X-linked intellectual disability Raymond type
  • c.778-209T>C Single submitter
  • c.979-18A>G Single submitter syndromic X-linked intellectual disability Raymond type
  • c.-204+6G>T Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Ala207= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Gln118His Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Glu345Lys Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Leu296= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Pro328= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Pro344= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Ser238= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Thr329= Single submitter syndromic X-linked intellectual disability Raymond type

Benign/Likely benign 14

  • c.167+10G>A Multiple submitters syndromic X-linked intellectual disability Raymond type
  • c.168-18A>G Multiple submitters syndromic X-linked intellectual disability Raymond type
  • c.487+14_487+15inv Multiple submitters syndromic X-linked intellectual disability Raymond type
  • c.487+17G>A Multiple submitters syndromic X-linked intellectual disability Raymond type
  • c.626-10A>T Multiple submitters syndromic X-linked intellectual disability Raymond type
  • c.674+11C>T Multiple submitters syndromic X-linked intellectual disability Raymond type
  • c.674+20T>C Multiple submitters syndromic X-linked intellectual disability Raymond type
  • c.674+9C>T Multiple submitters syndromic X-linked intellectual disability Raymond type
  • c.777+16C>T Multiple submitters syndromic X-linked intellectual disability Raymond type
  • c.978+15C>T Multiple submitters syndromic X-linked intellectual disability Raymond type
  • p.Ala97= Multiple submitters syndromic X-linked intellectual disability Raymond type
  • p.Pro123= Multiple submitters syndromic X-linked intellectual disability Raymond type
  • p.Pro338= Multiple submitters syndromic X-linked intellectual disability Raymond type
  • p.Ser325= Multiple submitters History of neurodevelopmental disorder

Likely benign 100

  • c.675-5C>A Multiple submitters syndromic X-linked intellectual disability Raymond type
  • p.Ala200Thr Multiple submitters syndromic X-linked intellectual disability Raymond type
  • p.Ala327= Multiple submitters syndromic X-linked intellectual disability Raymond type
  • p.Asn128= Multiple submitters syndromic X-linked intellectual disability Raymond type
  • p.Gly173= Multiple submitters syndromic X-linked intellectual disability Raymond type
  • p.Leu40= Multiple submitters syndromic X-linked intellectual disability Raymond type
  • p.Leu46= Multiple submitters Inborn genetic diseases
  • p.Pro352= Multiple submitters syndromic X-linked intellectual disability Raymond type
  • p.Pro355_Gln357dup Multiple submitters syndromic X-linked intellectual disability Raymond type
  • p.Ser263= Multiple submitters syndromic X-linked intellectual disability Raymond type
  • c.167+19G>C Single submitter syndromic X-linked intellectual disability Raymond type
  • c.328+11C>T Single submitter syndromic X-linked intellectual disability Raymond type
  • c.328+16del Single submitter syndromic X-linked intellectual disability Raymond type
  • c.328+17G>T Single submitter syndromic X-linked intellectual disability Raymond type
  • c.329-11T>C Single submitter syndromic X-linked intellectual disability Raymond type
  • c.487+11C>T Single submitter
  • c.487+19A>G Single submitter syndromic X-linked intellectual disability Raymond type
  • c.487+19A>T Single submitter syndromic X-linked intellectual disability Raymond type
  • c.487+20C>T Single submitter syndromic X-linked intellectual disability Raymond type
  • c.487+3G>A Single submitter
  • c.487+8A>G Single submitter syndromic X-linked intellectual disability Raymond type
  • c.488-15C>T Single submitter syndromic X-linked intellectual disability Raymond type
  • c.488-17C>G Single submitter syndromic X-linked intellectual disability Raymond type
  • c.488-17C>T Single submitter syndromic X-linked intellectual disability Raymond type
  • c.488-19C>T Single submitter syndromic X-linked intellectual disability Raymond type
  • c.488-5del Single submitter syndromic X-linked intellectual disability Raymond type
  • c.488-9C>A Single submitter syndromic X-linked intellectual disability Raymond type
  • c.488-9C>T Single submitter syndromic X-linked intellectual disability Raymond type
  • c.625+10C>T Single submitter syndromic X-linked intellectual disability Raymond type
  • c.625+14G>A Single submitter syndromic X-linked intellectual disability Raymond type
  • c.626-11C>T Single submitter syndromic X-linked intellectual disability Raymond type
  • c.626-16C>T Single submitter syndromic X-linked intellectual disability Raymond type
  • c.674+7T>C Single submitter syndromic X-linked intellectual disability Raymond type
  • c.778-11T>G Single submitter syndromic X-linked intellectual disability Raymond type
  • c.778-15G>T Single submitter syndromic X-linked intellectual disability Raymond type
  • c.778-4G>C Single submitter syndromic X-linked intellectual disability Raymond type
  • c.881+10G>C Single submitter syndromic X-linked intellectual disability Raymond type
  • c.881+17A>G Single submitter syndromic X-linked intellectual disability Raymond type
  • c.881+8G>C Single submitter syndromic X-linked intellectual disability Raymond type
  • c.882-18CT[2] Single submitter syndromic X-linked intellectual disability Raymond type
  • c.882-19dup Single submitter syndromic X-linked intellectual disability Raymond type
  • c.978+7G>A Single submitter syndromic X-linked intellectual disability Raymond type
  • c.979-6T>C Single submitter syndromic X-linked intellectual disability Raymond type
  • c.979-8C>T Single submitter syndromic X-linked intellectual disability Raymond type
  • c.*4A>G Single submitter Inborn genetic diseases
  • p.Ala111Val Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Ala115= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Arg12= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Arg269= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Arg28= Single submitter
  • p.Asn132= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Asp259= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Asp90= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Cys155= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Glu108= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Glu163= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Glu305= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Glu345Ter Single submitter
  • p.Glu346= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Gly119= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Gly177= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Gly300= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Gly47= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Leu138= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Leu17= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Leu193= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Leu249= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Leu252Val Single submitter Inborn genetic diseases
  • p.Leu287= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Leu291= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Leu322Ser Single submitter Inborn genetic diseases
  • p.Leu51= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Leu60= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Lys137= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Phe165= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Phe187= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Phe199= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Phe53= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Pro18= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Pro292= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Pro312= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Pro344Ser Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Pro95= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Ser318= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Ser319Asn Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Thr112= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Thr143= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Thr222= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Thr265= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Thr317= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Thr48= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Tyr183= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Val172= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Val204= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Val239= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Val286= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Val295= Single submitter
  • p.Val29Ile Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Val3= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Val93= Single submitter syndromic X-linked intellectual disability Raymond type

Uncertain significance 120

  • c.329-2dup Multiple submitters ZDHHC9-related disorder
  • p.Ala327Thr Multiple submitters syndromic X-linked intellectual disability Raymond type ⚠
  • p.Ala97Val Multiple submitters ⚠
  • p.Arg164His Multiple submitters syndromic X-linked intellectual disability Raymond type ⚠
  • p.Arg269Cys Multiple submitters syndromic X-linked intellectual disability Raymond type ⚠
  • p.Arg269Gly Multiple submitters ⚠
  • p.Arg269His Multiple submitters syndromic X-linked intellectual disability Raymond type ⚠
  • p.Arg310Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg33Gln Multiple submitters syndromic X-linked intellectual disability Raymond type ⚠
  • p.Asn257Ser Multiple submitters syndromic X-linked intellectual disability Raymond type ⚠
  • p.Asp26Asn Multiple submitters syndromic X-linked intellectual disability Raymond type ⚠
  • p.Gly92Arg Multiple submitters syndromic X-linked intellectual disability Raymond type ⚠
  • p.Ile188Val Multiple submitters syndromic X-linked intellectual disability Raymond type ⚠
  • p.Leu138Met Multiple submitters syndromic X-linked intellectual disability Raymond type ⚠
  • p.Leu189Phe Multiple submitters syndromic X-linked intellectual disability Raymond type ⚠
  • p.Phe233Ser Multiple submitters syndromic X-linked intellectual disability Raymond type ⚠
  • p.Pro338Leu Multiple submitters syndromic X-linked intellectual disability Raymond type ⚠
  • p.Ser334Leu Multiple submitters syndromic X-linked intellectual disability Raymond type ⚠
  • p.Thr317Ser Multiple submitters syndromic X-linked intellectual disability Raymond type ⚠
  • p.Thr329fs Multiple submitters syndromic X-linked intellectual disability Raymond type
  • p.Thr82Ala Multiple submitters syndromic X-linked intellectual disability Raymond type ⚠
  • p.Trp264Arg Multiple submitters syndromic X-linked intellectual disability Raymond type ⚠
  • p.Val239Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val240Met Multiple submitters syndromic X-linked intellectual disability Raymond type ⚠
  • c.487+6T>G Single submitter
  • c.881+5T>C Single submitter syndromic X-linked intellectual disability Raymond type
  • c.978+6T>G Single submitter syndromic X-linked intellectual disability Raymond type
  • c.-176C>T Single submitter
  • p.Ala102Thr Single submitter ⚠
  • p.Ala111Ser Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Ala115Val Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Ala207Val Single submitter ⚠
  • p.Ala327Asp Single submitter ⚠
  • p.Ala327Pro Single submitter ⚠
  • p.Ala359Thr Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Ala362Pro Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Arg121Gln Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Arg125Cys Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Arg12Gln Single submitter ⚠
  • p.Arg12Trp Single submitter ⚠
  • p.Arg148Gln Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Arg151Trp Single submitter ⚠
  • p.Arg20Trp Single submitter ⚠
  • p.Arg28His Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Arg298Gln Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Arg310Ter Single submitter
  • p.Arg58His Single submitter ⚠
  • p.Arg7Thr Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Asn133His Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Asn133Lys Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Asn282Tyr Single submitter ⚠
  • p.Asn335Tyr Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Asp166His Single submitter neurodevelopmental disorder ⚠
  • p.Cys141Arg Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Cys175Gly Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Gln271Arg Single submitter Inborn genetic diseases ⚠
  • p.Glu110Lys Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Glu305Gln Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Glu330Gly Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Glu358Gly Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Glu361Lys Single submitter Inborn genetic diseases ⚠
  • p.Gly27Asp Single submitter ⚠
  • p.Ile105Val Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Ile109Thr Single submitter ⚠
  • p.Ile196Val Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Ile260Val Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Ile68Val Single submitter Inborn genetic diseases ⚠
  • p.Leu186Pro Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Leu189Pro Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Leu227Ile Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Leu227Pro Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Leu230Pro Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Leu252Phe Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Leu321Phe Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Leu77Arg Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Lys8Arg Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Met107Ile Single submitter ⚠
  • p.Met347Leu Single submitter Inborn genetic diseases ⚠
  • p.Met74Ile Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Met74Val Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Phe199_Ala200insPhe Single submitter
  • p.Phe201Leu Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Phe215Ser Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Phe248Ser Single submitter ⚠
  • p.Phe52Ser Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Pro18Arg Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Pro293Leu Single submitter ⚠
  • p.Pro328Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro352Arg Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Pro352Thr Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Pro353Ser Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Pro66Leu Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Ser192Phe Single submitter ⚠
  • p.Ser275Asn Single submitter Inborn genetic diseases ⚠
  • p.Ser309Gly Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Ser318Cys Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Ser319Gly Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Ser320Asn Single submitter Inborn genetic diseases ⚠
  • p.Ser341Arg Single submitter ⚠
  • p.Ser341Gly Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Ser342Asn Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Ser89Arg Single submitter Inborn genetic diseases ⚠
  • p.Ser89Thr Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Thr218= Single submitter syndromic X-linked intellectual disability Raymond type
  • p.Thr225Ala Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Thr255Ile Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Thr343Ile Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Thr86Ser Single submitter ⚠
  • p.Tyr140His Single submitter ⚠
  • p.Tyr142Phe Single submitter ⚠
  • p.Tyr205Cys Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Tyr39Cys Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Val10= Single submitter
  • p.Val116Met Single submitter ⚠
  • p.Val162Met Single submitter Inborn genetic diseases ⚠
  • p.Val239Ala Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Val250Met Single submitter Inborn genetic diseases ⚠
  • p.Val3Met Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Val62Ile Single submitter syndromic X-linked intellectual disability Raymond type ⚠
  • p.Arg96Gln No assertion criteria Neurodevelopmental abnormality ⚠