SHOX — 207 ClinVar variants
All ClinVar germline SHOX variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
18 Pathogenic · 5 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 16 Conflicting · 18 Benign · 6 Benign/Likely benign · 31 Likely benign · 97 Uncertain significance
Full SHOX gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll SHOX variants
Pathogenic 18
- p.Arg173Cys Multiple submitters Leri-Weill dyschondrosteosis
- p.Arg195Ter Multiple submitters Monogenic short stature
- p.Cys194Ter Multiple submitters
- p.225HPHL[1] Single submitter Leri-Weill dyschondrosteosis
- p.Ala170Pro Single submitter Leri-Weill dyschondrosteosis
- p.Ala224Thr Single submitter Leri-Weill dyschondrosteosis
- p.Arg119fs Single submitter Langer mesomelic dysplasia
- p.Gln14Ter Single submitter
- p.Met202fs Single submitter
- p.Ser269fs Single submitter Leri-Weill dyschondrosteosis
- p.Thr34fs Single submitter
- p.Tyr238fs Single submitter
- c.544+1G>A No assertion criteria SHOX-related short stature
- c.-645_-644insGTT No assertion criteria SHOX-related short stature
- p.Ala170Asp No assertion criteria Leri-Weill dyschondrosteosis
- p.Glu176Asp No assertion criteria SHOX-related short stature
- p.Glu61fs No assertion criteria Leri-Weill dyschondrosteosis
- p.Tyr199Ter No assertion criteria Leri-Weill dyschondrosteosis
Pathogenic/Likely pathogenic 5
- c.-19G>A Multiple submitters SHOX-related short stature
- p.Arg168Trp Multiple submitters SHOX-related disorder
- p.Arg173His Multiple submitters Leri-Weill dyschondrosteosis
- p.Gln117Ter Multiple submitters SHOX-related short stature
- p.Pro244fs Multiple submitters SHOX-related disorder
Likely pathogenic 16
- c.544+2T>A Single submitter SHOX-related disorder
- c.634-2A>G Single submitter
- p.Arg168Gln Single submitter Short stature
- p.Arg173Gly Single submitter Monogenic short statue
- p.Arg173Leu Single submitter
- p.Arg206fs Single submitter SHOX-related disorder
- p.Gln211Ter Single submitter
- p.Gln217Ter Single submitter
- p.Gln57Ter Single submitter
- p.Glu84Ter Single submitter Leri-Weill dyschondrosteosis
- p.Gly27Ter Single submitter SHOX-related disorder
- p.Lys79Ter Single submitter SHOX-related disorder
- p.Phe165Leu Single submitter
- p.Pro226fs Single submitter Leri-Weill dyschondrosteosis
- p.Arg160His No assertion criteria SHOX-related short stature
- p.Lys17Ter No assertion criteria SHOX-related short stature
Conflicting classifications of pathogenicity 16
- c.634-7C>T Single submitter
- c.-432-3C>A Single submitter Leri-Weill dyschondrosteosis
- c.-55C>T Single submitter connective tissue disorder
- c.-9del Single submitter
- p.Ala193Thr Single submitter Leri-Weill dyschondrosteosis
- p.Ala233Val Single submitter
- p.Ala234= Single submitter
- p.Ala264= Single submitter
- p.Arg169Lys Single submitter Leri-Weill dyschondrosteosis
- p.Arg218His Single submitter
- p.Glu48= Single submitter
- p.Lys29Thr Single submitter SHOX-related short stature
- p.Lys30del Single submitter
- p.Phe241= Single submitter
- p.Pro243fs Single submitter Leri-Weill dyschondrosteosis
- p.Ter226Arg Single submitter SHOX-related short stature
Benign 18
- c.277+17T>G Multiple submitters Leri-Weill dyschondrosteosis
- c.633+5C>G Multiple submitters
- c.634-3del Multiple submitters
- c.634-54A>G Multiple submitters
- c.634-63A>G Multiple submitters
- c.634-71T>C Multiple submitters
- c.634-72G>A Multiple submitters
- c.634-79A>G Multiple submitters
- c.-19G>C Multiple submitters
- c.-507G>C Multiple submitters Leri-Weill dyschondrosteosis
- c.*114T>G Multiple submitters
- p.Pro219= Multiple submitters
- c.-432-159A>G Single submitter
- c.-432-96G>A Single submitter
- c.-512C>A Single submitter Leri-Weill dyschondrosteosis
- p.Ala225= Single submitter
- p.Arg280= Single submitter
- p.Val68= Single submitter
Benign/Likely benign 6
- c.634-14G>T Multiple submitters Leri-Weill dyschondrosteosis
- c.*16_*26dup Multiple submitters
- p.Glu288= Multiple submitters
- p.Gly21= Multiple submitters connective tissue disorder
- p.Leu290= Multiple submitters connective tissue disorder
- p.Val183Ile Multiple submitters
Likely benign 31
- c.545-10T>C Multiple submitters
- p.Glu40= Multiple submitters
- p.Ser258= Multiple submitters
- p.Tyr199= Multiple submitters
- c.487-12C>T Single submitter
- c.544+10G>A Single submitter SHOX-related short stature
- c.544+20G>A Single submitter
- c.544+21del Single submitter
- c.634-18C>T Single submitter
- c.634-19G>C Single submitter
- c.634-3dup Single submitter
- c.634-4_634-3del Single submitter
- c.-432-14_-432-7del Single submitter connective tissue disorder
- c.-636del Single submitter
- c.-636dup Single submitter
- c.-637_-636del Single submitter
- c.-637_-636dup Single submitter
- c.-646_-645insGTT Single submitter
- c.-646_-645insGTTT Single submitter
- c.-646T>G Single submitter
- p.Ala233= Single submitter
- p.Ala283= Single submitter
- p.Ala91= Single submitter
- p.Arg218= Single submitter
- p.Asp18= Single submitter
- p.Asp192= Single submitter
- p.His286= Single submitter
- p.Leu279= Single submitter
- p.Leu49= Single submitter
- p.Ser41= Single submitter
- c.-649C>G No assertion criteria SHOX-related short stature
Uncertain significance 97
- c.277+20G>C Multiple submitters
- c.-65C>A Multiple submitters SHOX-related short stature
- p.225HPHL[3] Multiple submitters Leri-Weill dyschondrosteosis
- p.Ala204Asp Multiple submitters
- p.Ala277Thr Multiple submitters
- p.Arg195Gln Multiple submitters
- p.Arg206Trp Multiple submitters
- p.Arg280Pro Multiple submitters
- p.Gly24Arg Multiple submitters
- p.Gly27_Gly28del Multiple submitters
- p.Gly64Arg Multiple submitters
- p.His286Pro Multiple submitters
- p.Lys181Asn Multiple submitters
- p.Pro67Ser Multiple submitters
- c.277+2dup Single submitter SHOX-related short stature
- c.277+8C>T Single submitter
- c.633+9C>T Single submitter
- c.634-1G>C Single submitter
- c.634-3C>T Single submitter
- c.-432-45C>T Single submitter
- c.-432-84C>G Single submitter
- c.-433+2T>C Single submitter
- c.-597T>G Single submitter
- c.-5del Single submitter
- c.(?_-692 Single submitter
- c.*12T>C Single submitter
- c.*14C>A Single submitter
- c.*14C>G Single submitter
- c.*16A>G Single submitter
- c.*18C>A Single submitter
- c.*18C>T Single submitter
- c.*18del Single submitter
- c.*2C>A Single submitter
- c.*2C>T Single submitter
- c.(?_*379 Single submitter
- c.*38C>T Single submitter
- c.*3C>T Single submitter
- c.*41C>A Single submitter SHOX-related short stature
- c.*5C>T Single submitter
- c.*5G>A Single submitter
- p.Ala204Val Single submitter Leri-Weill dyschondrosteosis
- p.Ala214Thr Single submitter
- p.Ala251Thr Single submitter
- p.Ala257Thr Single submitter
- p.Ala261= Single submitter
- p.Arg168Gly Single submitter
- p.Arg206Gln Single submitter
- p.Arg218Cys Single submitter
- p.Arg36Gln Single submitter
- p.Arg36Trp Single submitter
- p.Arg47Trp Single submitter
- p.Arg89Ile Single submitter
- p.Asn20Asp Single submitter
- p.Asn20Lys Single submitter
- p.Asp13Asn Single submitter
- p.Asp13Glu Single submitter
- p.Asp13Gly Single submitter Langer mesomelic dysplasia
- p.Asp18Val Single submitter
- p.Gln57Arg Single submitter
- p.Glu213Gly Single submitter
- p.Glu288Asp Single submitter
- p.Gly19Asp Single submitter
- p.Gly247Arg Single submitter
- p.Gly25Asp Single submitter
- p.Gly27_Gly28dup Single submitter Leri-Weill dyschondrosteosis
- p.Gly28Arg Single submitter
- p.Gly28Val Single submitter Leri-Weill dyschondrosteosis
- p.Gly291Trp Single submitter
- p.His190Tyr Single submitter
- p.His229_Pro230insLeuHis Single submitter
- p.His235Gln Single submitter
- p.Lys30Glu Single submitter
- p.Lys79Met Single submitter SHOX-related short stature
- p.Lys81Ile Single submitter
- p.Met202Ile Single submitter
- p.Met212Thr Single submitter
- p.Phe209Leu Single submitter
- p.Phe241Leu Single submitter
- p.Pro219Ser Single submitter
- p.Pro230Ala Single submitter
- p.Pro243Leu Single submitter
- p.Pro244Leu Single submitter Monogenic short statue
- p.Pro67Arg Single submitter
- p.Ser252Ter Single submitter
- p.Ter293Arg Single submitter Leri-Weill dyschondrosteosis
- p.Thr187Ile Single submitter
- p.Thr34Ser Single submitter
- p.Thr5Ala Single submitter
- p.Thr87= Single submitter
- p.Val183Leu Single submitter Langer mesomelic dysplasia
- p.Val200Ile Single submitter
- p.Val262Ala Single submitter
- c.-372G>A No assertion criteria SHOX-related short stature
- c.*284_*285dup No assertion criteria SHOX-related short stature
- p.Asn77Lys No assertion criteria SHOX-related disorder
- p.Glu176= No assertion criteria SHOX-related short stature
- p.Lys268Arg No assertion criteria SHOX-related short stature