NSDHL — 265 ClinVar variants
All ClinVar germline NSDHL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 112 flagged for review →
12 Pathogenic · 8 Likely pathogenic · 23 Conflicting · 30 Benign · 28 Benign/Likely benign · 63 Likely benign · 101 Uncertain significance
Full NSDHL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 112
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 17
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
NSDHL p.Ala14Thr
Conflicting
Single submitter
Inborn genetic diseases
-
NSDHL p.Arg15Gln
Conflicting
Single submitter
CK syndrome
-
NSDHL p.Arg199Cys
Conflicting
Single submitter
CHILD syndrome
- NSDHL p.Arg281His Conflicting Single submitter
-
NSDHL p.Arg281Leu
Conflicting
Single submitter
CK syndrome
-
NSDHL p.Arg367His
Conflicting
Single submitter
Inborn genetic diseases
-
NSDHL p.Arg370Trp
Conflicting
Single submitter
Inborn genetic diseases
- NSDHL p.Asp154Asn Conflicting Single submitter
-
NSDHL p.Asp188Asn
Conflicting
Single submitter
Inborn genetic diseases
-
NSDHL p.Gln89Glu
Conflicting
Single submitter
CHILD syndrome
-
NSDHL p.Glu217Lys
Conflicting
Single submitter
connective tissue disorder
-
NSDHL p.Glu7Lys
Conflicting
Single submitter
Inborn genetic diseases
-
NSDHL p.Lys24Arg
Conflicting
Single submitter
intellectual disability
-
NSDHL p.Pro274Arg
Conflicting
Single submitter
Inborn genetic diseases
-
NSDHL p.Ser6Arg
Conflicting
Single submitter
Inborn genetic diseases
-
NSDHL p.Thr22Ile
Conflicting
Single submitter
Inborn genetic diseases
-
NSDHL p.Val243Met
Conflicting
Single submitter
CHILD syndrome
Predictors lean, ClinVar uncertain 64
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NSDHL p.Ala290Val Uncertain significance Multiple submitters
-
NSDHL p.Ala346Gly
Uncertain significance
Multiple submitters
CHILD syndrome
-
NSDHL p.Arg15Trp
Uncertain significance
Multiple submitters
CHILD syndrome
-
NSDHL p.Arg220Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NSDHL p.Arg88Gln
Uncertain significance
Multiple submitters
CK syndrome
-
NSDHL p.Asn187Ser
Uncertain significance
Multiple submitters
CHILD syndrome
-
NSDHL p.Ile177Val
Uncertain significance
Multiple submitters
CHILD syndrome
- NSDHL p.Leu305Arg Uncertain significance Multiple submitters
-
NSDHL p.Leu352Val
Uncertain significance
Multiple submitters
CK syndrome
-
NSDHL p.Lys133Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NSDHL p.Lys31Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NSDHL p.Lys344Arg
Uncertain significance
Multiple submitters
CHILD syndrome
-
NSDHL p.Lys373Arg
Uncertain significance
Multiple submitters
NSDHL-related disorder
-
NSDHL p.Met327Val
Uncertain significance
Multiple submitters
connective tissue disorder
-
NSDHL p.Pro322Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- NSDHL p.Tyr302His Uncertain significance Multiple submitters
-
NSDHL p.Val153Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NSDHL p.Val313Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- NSDHL p.Ala135Val Uncertain significance Single submitter
- NSDHL p.Ala14Val Uncertain significance Single submitter
- NSDHL p.Ala346Asp Uncertain significance Single submitter
- NSDHL p.Arg256Gln Uncertain significance Single submitter
-
NSDHL p.Arg256Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- NSDHL p.Arg39Ser Uncertain significance Single submitter
- NSDHL p.Arg79Gly Uncertain significance Single submitter
-
NSDHL p.Asn192Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- NSDHL p.Asp161Asn Uncertain significance Single submitter
- NSDHL p.Asp236Gly Uncertain significance Single submitter
-
NSDHL p.Asp257Gly
Uncertain significance
Single submitter
CK syndrome
- NSDHL p.Gln321His Uncertain significance Single submitter
- NSDHL p.Gln350Arg Uncertain significance Single submitter
- NSDHL p.Gln77Leu Uncertain significance Single submitter
- NSDHL p.Glu115Gln Uncertain significance Single submitter
-
NSDHL p.Glu341Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
NSDHL p.Gly231Arg
Uncertain significance
Single submitter
CK syndrome
-
NSDHL p.Gly231Glu
Uncertain significance
Single submitter
CK syndrome
- NSDHL p.Gly72Arg Uncertain significance Single submitter
- NSDHL p.His103Tyr Uncertain significance Single submitter
-
NSDHL p.Leu303Val
Uncertain significance
Single submitter
Inborn genetic diseases
- NSDHL p.Leu320Val Uncertain significance Single submitter
- NSDHL p.Lys176Glu Uncertain significance Single submitter
- NSDHL p.Lys24Glu Uncertain significance Single submitter
- NSDHL p.Met327Ile Uncertain significance Single submitter
- NSDHL p.Phe278Leu Uncertain significance Single submitter
- NSDHL p.Pro209Leu Uncertain significance Single submitter
- NSDHL p.Pro274Ser Uncertain significance Single submitter
-
NSDHL p.Pro316Arg
Uncertain significance
Single submitter
CK syndrome
-
NSDHL p.Pro326His
Uncertain significance
Single submitter
Inborn genetic diseases
- NSDHL p.Ser46Cys Uncertain significance Single submitter
- NSDHL p.Ser6Asn Uncertain significance Single submitter
- NSDHL p.Ser6Cys Uncertain significance Single submitter
-
NSDHL p.Thr268Ala
Uncertain significance
Single submitter
NSDHL-related disorder
- NSDHL p.Thr268Ile Uncertain significance Single submitter
- NSDHL p.Thr325Ala Uncertain significance Single submitter
- NSDHL p.Tyr301Asn Uncertain significance Single submitter
- NSDHL p.Tyr302Asn Uncertain significance Single submitter
- NSDHL p.Tyr302Cys Uncertain significance Single submitter
-
NSDHL p.Tyr337Cys
Uncertain significance
Single submitter
CK syndrome
-
NSDHL p.Val153Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
NSDHL p.Val25Ala
Uncertain significance
Single submitter
CK syndrome
- NSDHL p.Val299Met Uncertain significance Single submitter
- NSDHL p.Val32Phe Uncertain significance Single submitter
- NSDHL p.Val78Met Uncertain significance Single submitter
- NSDHL p.Tyr301His Uncertain significance No assertion criteria
Predictors split 31
The independent predictors disagree with each other — read with care.
- NSDHL p.Arg281Cys Likely benign Multiple submitters
-
NSDHL p.Pro189Ser
Uncertain significance
Multiple submitters
CK syndrome
- NSDHL p.Val78Ala Benign/Likely benign Multiple submitters
-
NSDHL p.Ala105Val
Likely pathogenic
Single submitter
CHILD syndrome
- NSDHL p.Ala186Thr Uncertain significance Single submitter
-
NSDHL p.Ala197Thr
Uncertain significance
Single submitter
CK syndrome
-
NSDHL p.Ala219Val
Conflicting
Single submitter
CK syndrome
- NSDHL p.Ala250Val Likely benign Single submitter
- NSDHL p.Arg281Gly Uncertain significance Single submitter
- NSDHL p.Arg79Trp Uncertain significance Single submitter
- NSDHL p.Asn269Ser Uncertain significance Single submitter
- NSDHL p.Asp270His Uncertain significance Single submitter
- NSDHL p.Asp356Val Uncertain significance Single submitter
-
NSDHL p.Cys86Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
NSDHL p.Glu252Gln
Uncertain significance
Single submitter
CK syndrome
-
NSDHL p.Glu55Gly
Uncertain significance
Single submitter
CHILD syndrome
- NSDHL p.Gly222Ser Uncertain significance Single submitter
-
NSDHL p.Gly348Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- NSDHL p.His368Arg Uncertain significance Single submitter
- NSDHL p.His52Tyr Uncertain significance Single submitter
-
NSDHL p.Ile69Met
Uncertain significance
Single submitter
Inborn genetic diseases
- NSDHL p.Phe324Leu Uncertain significance Single submitter
- NSDHL p.Pro326Ala Uncertain significance Single submitter
- NSDHL p.Ser147Gly Uncertain significance Single submitter
-
NSDHL p.Ser258Leu
Conflicting
Single submitter
Inborn genetic diseases
- NSDHL p.Ser365Asn Uncertain significance Single submitter
-
NSDHL p.Thr277Arg
Uncertain significance
Single submitter
CK syndrome
- NSDHL p.Tyr297Cys Uncertain significance Single submitter
- NSDHL p.Tyr301Cys Uncertain significance Single submitter
- NSDHL p.Val353Ala Uncertain significance Single submitter
- NSDHL p.Cys132Ser Uncertain significance No assertion criteria
All NSDHL variants
Pathogenic 12
- p.Arg367fs Single submitter CK syndrome
- p.Gln253Ter Single submitter CHILD syndrome
- p.Gln70Ter Single submitter
- p.Gly348fs Single submitter CHILD syndrome
- p.Tyr302fs Single submitter CHILD syndrome
- p.Tyr302Ter Single submitter CHILD syndrome
- p.Ala182Pro No assertion criteria CHILD syndrome
- p.Arg88Ter No assertion criteria CHILD syndrome
- p.Gln210Ter No assertion criteria CHILD syndrome
- p.Glu151Ter No assertion criteria CHILD syndrome
- p.Gly205Ser No assertion criteria CHILD syndrome
- p.Lys232del No assertion criteria CK syndrome
Likely pathogenic 8
- c.267+2T>C Single submitter
- p.Ala105Val Single submitter CHILD syndrome ⚠
- p.Gly44Ser Single submitter
- p.Ile129fs Single submitter CHILD syndrome
- p.Ile228Ser Single submitter
- p.Ser106Leu Single submitter CHILD syndrome
- p.Tyr349Cys Single submitter CHILD syndrome
- p.Val372fs Single submitter CHILD syndrome
Conflicting classifications of pathogenicity 23
- c.544-3C>T Single submitter CHILD syndrome
- c.790-9T>A Single submitter CHILD syndrome
- p.Ala14Thr Single submitter Inborn genetic diseases ⚠
- p.Ala219Val Single submitter CK syndrome ⚠
- p.Arg15Gln Single submitter CK syndrome ⚠
- p.Arg199Cys Single submitter CHILD syndrome ⚠
- p.Arg281His Single submitter ⚠
- p.Arg281Leu Single submitter CK syndrome ⚠
- p.Arg367His Single submitter Inborn genetic diseases ⚠
- p.Arg370Trp Single submitter Inborn genetic diseases ⚠
- p.Asp154Asn Single submitter ⚠
- p.Asp188Asn Single submitter Inborn genetic diseases ⚠
- p.Gln89Glu Single submitter CHILD syndrome ⚠
- p.Glu217Lys Single submitter connective tissue disorder ⚠
- p.Glu7Lys Single submitter Inborn genetic diseases ⚠
- p.His266Tyr Single submitter CHILD syndrome
- p.Lys24Arg Single submitter intellectual disability ⚠
- p.Pro272= Single submitter
- p.Pro274Arg Single submitter Inborn genetic diseases ⚠
- p.Ser258Leu Single submitter Inborn genetic diseases ⚠
- p.Ser6Arg Single submitter Inborn genetic diseases ⚠
- p.Thr22Ile Single submitter Inborn genetic diseases ⚠
- p.Val243Met Single submitter CHILD syndrome ⚠
Benign 30
- c.789+209C>T Multiple submitters
- p.Gly44= Multiple submitters CK syndrome
- p.Ile314= Multiple submitters connective tissue disorder
- c.108+19C>T Single submitter
- c.109-262A>G Single submitter
- c.268-319G>A Single submitter
- c.414+184_414+187del Single submitter
- c.543+8C>T Single submitter
- c.544-197G>T Single submitter
- c.687-16C>T Single submitter
- c.687-340A>G Single submitter
- c.789+18G>A Single submitter
- c.789+235G>C Single submitter
- c.-43-242C>T Single submitter
- p.Ala105= Single submitter
- p.Ala14= Single submitter
- p.Asn113His Single submitter
- p.Asn221= Single submitter
- p.Asn242= Single submitter
- p.Asn65Ser Single submitter
- p.Gly185= Single submitter
- p.Gly333Ser Single submitter
- p.His245= Single submitter
- p.His294= Single submitter
- p.Ile214Val Single submitter
- p.Leu95Val Single submitter
- p.Pro351= Single submitter
- p.Pro76Ser Single submitter
- p.Ser258= Single submitter
- p.Val240= Single submitter
Benign/Likely benign 28
- c.267+7G>A Multiple submitters intellectual disability
- c.268-15dup Multiple submitters CK syndrome
- c.789+17C>T Multiple submitters
- c.790-5G>A Multiple submitters
- c.*129C>T Multiple submitters CHILD syndrome
- p.Ala250= Multiple submitters
- p.Ala358Gly Multiple submitters intellectual disability
- p.Arg119Lys Multiple submitters
- p.Arg367Cys Multiple submitters Inborn genetic diseases
- p.Arg370Gln Multiple submitters
- p.Arg79Gln Multiple submitters Inborn genetic diseases
- p.Asn187= Multiple submitters
- p.Asp28Gly Multiple submitters Inborn genetic diseases
- p.His294Tyr Multiple submitters Inborn genetic diseases
- p.Ile123Val Multiple submitters Inborn genetic diseases
- p.Ile169Val Multiple submitters Inborn genetic diseases
- p.Ile198Leu Multiple submitters Inborn genetic diseases
- p.Leu352= Multiple submitters connective tissue disorder
- p.Met9Val Multiple submitters
- p.Phe102= Multiple submitters connective tissue disorder
- p.Phe117= Multiple submitters CK syndrome
- p.Phe204= Multiple submitters CK syndrome
- p.Phe226= Multiple submitters CK syndrome
- p.Phe278= Multiple submitters CK syndrome
- p.Pro296Arg Multiple submitters Inborn genetic diseases
- p.Val329= Multiple submitters CK syndrome
- p.Val363Met Multiple submitters intellectual disability
- p.Val78Ala Multiple submitters ⚠
Likely benign 63
- c.267+130A>G Multiple submitters
- c.687-128G>A Multiple submitters
- c.790-6C>T Multiple submitters
- c.-43-41C>G Multiple submitters
- p.Arg281Cys Multiple submitters ⚠
- p.Cys340= Multiple submitters
- p.Leu310Met Multiple submitters connective tissue disorder
- p.Leu331= Multiple submitters
- p.Thr362= Multiple submitters
- p.Trp298Leu Multiple submitters CK syndrome
- p.Tyr118= Multiple submitters
- p.Val227Met Multiple submitters Inborn genetic diseases
- c.108+17C>T Single submitter
- c.108+19C>A Single submitter
- c.108+255G>C Single submitter
- c.109-15C>G Single submitter
- c.109-18G>A Single submitter
- c.109-29T>G Single submitter
- c.109-4del Single submitter
- c.267+10C>G Single submitter
- c.267+15A>G Single submitter
- c.267+279C>T Single submitter
- c.268-13T>G Single submitter
- c.268-14C>T Single submitter
- c.415-17T>C Single submitter
- c.415-266C>T Single submitter
- c.543+16C>T Single submitter
- c.543+176G>A Single submitter
- c.544-12A>G Single submitter
- c.686+17C>T Single submitter
- c.686+18G>A Single submitter
- c.-17C>T Single submitter
- p.Ala250Val Single submitter ⚠
- p.Ala264= Single submitter
- p.Ala304= Single submitter
- p.Arg10= Single submitter
- p.Arg199= Single submitter
- p.Arg256= Single submitter
- p.Arg281= Single submitter
- p.Asn127= Single submitter
- p.Cys40Tyr Single submitter Inborn genetic diseases
- p.Gln210= Single submitter
- p.Glu134= Single submitter
- p.Gly202= Single submitter
- p.Gly285= Single submitter
- p.Gly97= Single submitter
- p.Ile216= Single submitter
- p.Ile43= Single submitter
- p.Leu215= Single submitter
- p.Leu303= Single submitter
- p.Leu310= Single submitter
- p.Leu91= Single submitter CK syndrome
- p.Lys38Arg Single submitter
- p.Pro209= Single submitter
- p.Pro291= Single submitter
- p.Pro296= Single submitter
- p.Pro8= Single submitter
- p.Ser6= Single submitter
- p.Thr125= Single submitter
- p.Thr284= Single submitter
- p.Tyr297= Single submitter
- p.Val153= Single submitter
- p.Glu2= No assertion criteria NSDHL-related disorder
Uncertain significance 101
- p.Ala290Val Multiple submitters ⚠
- p.Ala346Gly Multiple submitters CHILD syndrome ⚠
- p.Arg15Trp Multiple submitters CHILD syndrome ⚠
- p.Arg220Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg88Gln Multiple submitters CK syndrome ⚠
- p.Asn187Ser Multiple submitters CHILD syndrome ⚠
- p.Ile177Val Multiple submitters CHILD syndrome ⚠
- p.Leu305Arg Multiple submitters ⚠
- p.Leu352Val Multiple submitters CK syndrome ⚠
- p.Lys133Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys31Asn Multiple submitters Inborn genetic diseases ⚠
- p.Lys344Arg Multiple submitters CHILD syndrome ⚠
- p.Lys373Arg Multiple submitters NSDHL-related disorder ⚠
- p.Met327Val Multiple submitters connective tissue disorder ⚠
- p.Pro189Ser Multiple submitters CK syndrome ⚠
- p.Pro322Ala Multiple submitters Inborn genetic diseases ⚠
- p.Tyr302His Multiple submitters ⚠
- p.Val153Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val313Met Multiple submitters Inborn genetic diseases ⚠
- c.414+2T>C Single submitter CHILD syndrome
- c.415-6T>C Single submitter
- c.543+6T>C Single submitter
- c.789+5G>T Single submitter
- c.790-3C>G Single submitter
- c.790-5G>T Single submitter unilateral polymicrogyria
- c.790-6C>A Single submitter
- c.-44+516G>T Single submitter
- p.Ala135Val Single submitter ⚠
- p.Ala14Val Single submitter ⚠
- p.Ala186Thr Single submitter ⚠
- p.Ala197Thr Single submitter CK syndrome ⚠
- p.Ala346Asp Single submitter ⚠
- p.Arg256Gln Single submitter ⚠
- p.Arg256Gly Single submitter Inborn genetic diseases ⚠
- p.Arg281Gly Single submitter ⚠
- p.Arg39Ser Single submitter ⚠
- p.Arg79Gly Single submitter ⚠
- p.Arg79Trp Single submitter ⚠
- p.Asn192Asp Single submitter Inborn genetic diseases ⚠
- p.Asn269Ser Single submitter ⚠
- p.Asp161Asn Single submitter ⚠
- p.Asp236Gly Single submitter ⚠
- p.Asp257Gly Single submitter CK syndrome ⚠
- p.Asp270His Single submitter ⚠
- p.Asp356Val Single submitter ⚠
- p.Cys86Ser Single submitter Inborn genetic diseases ⚠
- p.Gln321His Single submitter ⚠
- p.Gln350Arg Single submitter ⚠
- p.Gln77Leu Single submitter ⚠
- p.Glu115Gln Single submitter ⚠
- p.Glu252Gln Single submitter CK syndrome ⚠
- p.Glu341Lys Single submitter Inborn genetic diseases ⚠
- p.Glu55Gly Single submitter CHILD syndrome ⚠
- p.Gly222Ser Single submitter ⚠
- p.Gly231Arg Single submitter CK syndrome ⚠
- p.Gly231Glu Single submitter CK syndrome ⚠
- p.Gly348Asp Single submitter Inborn genetic diseases ⚠
- p.Gly72Arg Single submitter ⚠
- p.His103Tyr Single submitter ⚠
- p.His368Arg Single submitter ⚠
- p.His52Tyr Single submitter ⚠
- p.Ile69Met Single submitter Inborn genetic diseases ⚠
- p.Leu260= Single submitter CK syndrome
- p.Leu283Val Single submitter CK syndrome
- p.Leu303Val Single submitter Inborn genetic diseases ⚠
- p.Leu320Val Single submitter ⚠
- p.Lys176Glu Single submitter ⚠
- p.Lys24Glu Single submitter ⚠
- p.Lys373Ter Single submitter
- p.Met327Ile Single submitter ⚠
- p.Met359Thr Single submitter
- p.Phe278Leu Single submitter ⚠
- p.Phe324Leu Single submitter ⚠
- p.Pro209Leu Single submitter ⚠
- p.Pro274Ser Single submitter ⚠
- p.Pro316Arg Single submitter CK syndrome ⚠
- p.Pro326Ala Single submitter ⚠
- p.Pro326His Single submitter Inborn genetic diseases ⚠
- p.Ser147Gly Single submitter ⚠
- p.Ser365Asn Single submitter ⚠
- p.Ser46Cys Single submitter ⚠
- p.Ser6Asn Single submitter ⚠
- p.Ser6Cys Single submitter ⚠
- p.Thr268Ala Single submitter NSDHL-related disorder ⚠
- p.Thr268Ile Single submitter ⚠
- p.Thr277Arg Single submitter CK syndrome ⚠
- p.Thr325Ala Single submitter ⚠
- p.Tyr297Cys Single submitter ⚠
- p.Tyr301Asn Single submitter ⚠
- p.Tyr301Cys Single submitter ⚠
- p.Tyr302Asn Single submitter ⚠
- p.Tyr302Cys Single submitter ⚠
- p.Tyr337Cys Single submitter CK syndrome ⚠
- p.Val153Leu Single submitter Inborn genetic diseases ⚠
- p.Val25Ala Single submitter CK syndrome ⚠
- p.Val299Met Single submitter ⚠
- p.Val32Phe Single submitter ⚠
- p.Val353Ala Single submitter ⚠
- p.Val78Met Single submitter ⚠
- p.Cys132Ser No assertion criteria ⚠
- p.Tyr301His No assertion criteria ⚠