Sugi Variant

Sugi Variant/NEK1

NEK1 — 1032 ClinVar variants

All ClinVar germline NEK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 404 flagged for review →

49 Pathogenic · 11 Pathogenic/Likely pathogenic · 49 Likely pathogenic · 74 Conflicting · 83 Benign · 17 Benign/Likely benign · 293 Likely benign · 456 Uncertain significance

Full NEK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 404

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

Predictors vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 37

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

Predictors lean, ClinVar uncertain 315

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 315

Predictors split 50

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

All NEK1 variants

Pathogenic 49

  • c.869-1G>T Multiple submitters orofaciodigital syndrome type II
  • p.Arg366fs Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Arg540Ter Multiple submitters amyotrophic lateral sclerosis, susceptibility to, 24
  • p.Arg653Ter Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Glu1113Ter Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • c.3584-10T>A Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ala312fs Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Arg400fs Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Arg440Ter Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Arg550Ter Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Arg91Ter Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Asn731fs Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Asp1243fs Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Asp762fs Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Cys883_Ile884insThrCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProXaaXaaXaaXaaLysLysLysLysLysLysLysLysLysValGlnCys Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Gln393Ter Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Gln620fs Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Gln697Ter Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Glu1206Ter Single submitter
  • p.Glu254Ter Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Glu529Ter Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Glu662fs Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Gly165fs Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Gly936fs Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.His201fs Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.His330fs Single submitter
  • p.Ile503fs Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ile991fs Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Leu670fs Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Leu744Ter Single submitter amyotrophic lateral sclerosis, susceptibility to, 24
  • p.Lys328fs Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Lys648_Glu649insTer Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Met564fs Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Met564Xaa Single submitter
  • p.Ser1064Ter Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ser1194Ter Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ser414fs Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ser48fs Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ser780Ter Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ser998fs Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Trp1192Ter Single submitter
  • p.Trp465Ter Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Trp831Ter Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.869-2A>G No assertion criteria short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Asp1277Ala No assertion criteria short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Glu72fs No assertion criteria short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Gly145Arg No assertion criteria short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Lys664fs No assertion criteria short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ser155Thr No assertion criteria orofaciodigital syndrome type II ⚠

Pathogenic/Likely pathogenic 11

  • c.117+1G>A Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ala750fs Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Gln377Ter Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Glu536Ter Multiple submitters short rib-polydactyly syndrome
  • p.Ser1036Ter Multiple submitters amyotrophic lateral sclerosis, susceptibility to, 24
  • p.Trp409Ter Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • c.2886-1G>A No assertion criteria short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Arg590fs No assertion criteria short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Asn547fs No assertion criteria NEK1-related disorder
  • p.Lys200fs No assertion criteria short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ser623fs No assertion criteria short-rib thoracic dysplasia 6 with or without polydactyly

Likely pathogenic 49

  • c.1020+1G>A Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1140+2T>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.118-1G>A Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1267-1G>A Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1430+1G>T Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1562+2T>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1750-2A>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1833+1G>T Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.2139+1G>A Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.2975-2A>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.3222+1G>A Single submitter amyotrophic lateral sclerosis, susceptibility to, 24
  • c.3714+1G>T Single submitter amyotrophic lateral sclerosis type 1
  • c.396+1G>T Single submitter
  • c.606+1G>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.606+1G>T Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Arg127Ter Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Arg472Ter Single submitter amyotrophic lateral sclerosis, susceptibility to, 24
  • p.Arg738Ter Single submitter NEK1-related disorder
  • p.Asn298fs Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Asn938fs Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Asp1131His Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Cys113fs Single submitter NEK1-related disorder
  • p.Gln442Ter Single submitter amyotrophic lateral sclerosis, susceptibility to, 24
  • p.Gln452Ter Single submitter amyotrophic lateral sclerosis, susceptibility to, 24
  • p.Gln602Ter Single submitter amyotrophic lateral sclerosis, susceptibility to, 24
  • p.Glu388fs Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Glu847Ter Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Gly148Ter Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.His338fs Single submitter
  • p.Ile1254fs Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ile129Ser Single submitter motor neuron disorder
  • p.Leu329fs Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Leu760_Ser761insTer Single submitter amyotrophic lateral sclerosis, susceptibility to, 24
  • p.Lys200Ter Single submitter orofaciodigital syndrome type II
  • p.Lys505fs Single submitter NEK1-related disorder
  • p.Lys580fs Single submitter amyotrophic lateral sclerosis, susceptibility to, 24
  • p.Pro172Ser Single submitter NEK1-related disorder
  • p.Ser782fs Single submitter
  • p.Tyr489Ter Single submitter amyotrophic lateral sclerosis, susceptibility to, 24
  • p.Val665fs Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Val881fs Single submitter NEK1-related disorder
  • c.2886-2A>G No assertion criteria NEK1-related disorder
  • c.3375-1G>T No assertion criteria NEK1-related disorder
  • p.Gln377fs No assertion criteria short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Gln454Ter No assertion criteria NEK1-related disorder
  • p.Gln546fs No assertion criteria NEK1-related disorder
  • p.Gln751Ter No assertion criteria short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Leu507fs No assertion criteria NEK1-related disorder
  • p.Trp108Ter No assertion criteria NEK1-related disorder

Conflicting classifications of pathogenicity 74

  • c.1750-5T>C Single submitter motor neuron disorder
  • c.2008-5T>A Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.2587+14G>T Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.2588-2A>G Single submitter amyotrophic lateral sclerosis, susceptibility to, 24
  • c.2974+11T>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.3583+8A>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.3715-6G>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.464+6A>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.868+1G>C Single submitter Fetal anomalies with a likely genetic cause
  • p.Ala313Thr Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Ala341Thr Single submitter connective tissue disorder ⚠
  • p.Ala500= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ala830Val Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Arg232His Single submitter motor neuron disorder ⚠
  • p.Arg261His Single submitter motor neuron disorder ⚠
  • p.Arg355Gly Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Arg484His Single submitter Inborn genetic diseases ⚠
  • p.Arg608His Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Arg721Trp Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Asn1025= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Asn1104Ser Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Asn1189= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Asn298Lys Single submitter connective tissue disorder ⚠
  • p.Asn745Lys Single submitter motor neuron disorder ⚠
  • p.Asn93Asp Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Asp1208Asn Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Asp379Glu Single submitter amyotrophic lateral sclerosis, susceptibility to, 24 ⚠
  • p.Cys197= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Cys883Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln1135= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Gln452= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Gln539= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Gln751Glu Single submitter Inborn genetic diseases ⚠
  • p.Glu1204= Single submitter NEK1-related disorder
  • p.Glu476Gly Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Glu84= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Gly140Arg Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Gly712= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Gly792Asp Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.His1016Arg Single submitter Inborn genetic diseases ⚠
  • p.His445= Single submitter connective tissue disorder
  • p.His445Arg Single submitter Inborn genetic diseases ⚠
  • p.His769Arg Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Ile1250= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ile308Met Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Leu1137= Single submitter NEK1-related disorder
  • p.Leu798Val Single submitter motor neuron disorder ⚠
  • p.Lys214= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Lys787= Single submitter amyotrophic lateral sclerosis, susceptibility to, 24
  • p.Phe597Ile Single submitter motor neuron disorder ⚠
  • p.Phe807= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Pro287Ala Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Pro304= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ser1045= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ser1047= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ser1047Leu Single submitter motor neuron disorder ⚠
  • p.Ser1203Cys Single submitter amyotrophic lateral sclerosis, susceptibility to, 24 ⚠
  • p.Ser155= Single submitter Inborn genetic diseases
  • p.Ser299Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser963= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ser963Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser980= Single submitter connective tissue disorder
  • p.Thr1065Ala Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Thr198= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Thr198Ile Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Tyr229Cys Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Tyr470His Single submitter Inborn genetic diseases ⚠
  • p.Val1097Ile Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Val1097Leu Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Val142= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Val704Ile Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Val713Met Single submitter motor neuron disorder ⚠
  • p.Val98Ile Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Glu374Asp No assertion criteria Jeune syndrome ⚠

Benign 83

Benign/Likely benign 17

  • c.1080+20G>A Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1141-14T>C Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • c.397-15dup Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • c.808-16del Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ala463Val Multiple submitters connective tissue disorder
  • p.Ala527= Multiple submitters connective tissue disorder
  • p.Asn1071= Multiple submitters amyotrophic lateral sclerosis, susceptibility to, 24
  • p.Asp1208= Multiple submitters connective tissue disorder
  • p.Gln911Glu Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Glu610= Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Gly206= Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Gly325= Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ile382= Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Met698Thr Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Pro1095= Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Pro475Arg Multiple submitters connective tissue disorder
  • p.Ser909Cys Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly

Likely benign 293

  • c.1021-8T>C Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • c.117+95G>A Multiple submitters
  • c.1266+20A>G Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1267-36A>G Multiple submitters
  • c.1666-17C>T Multiple submitters
  • c.1750-6T>C Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1833+109G>A Multiple submitters
  • c.1911+86A>G Multiple submitters
  • c.2765-15G>A Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • c.3222+64T>A Multiple submitters amyotrophic lateral sclerosis, susceptibility to, 24
  • c.464+8G>A Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • c.869-98T>C Multiple submitters
  • c.-488C>T Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ala150= Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Arg721= Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Gln1256= Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Gly1118= Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Leu1188= Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Leu88= Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Lys339= Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Pro167= Multiple submitters
  • p.Pro61= Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ser1140= Multiple submitters
  • p.Ser38= Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Thr689= Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Val1018= Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Val54= Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1020+20C>T Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1021-15T>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1021-81_1021-77del Single submitter
  • c.1080+17C>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1081-122dup Single submitter
  • c.1081-16C>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1081-20T>C Single submitter
  • c.1081-6_1081-3del Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1081-7dup Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1081-8T>A Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1141-19del Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.118-12C>T Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1191+13T>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1191+20A>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1191+8G>A Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1192-13C>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1192-14del Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1192-17A>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1192-6C>T Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1266+18A>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1266+277G>T Single submitter
  • c.1267-181G>T Single submitter
  • c.1430+10T>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1430+13_1430+14insA Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1430+9A>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1563-152_1563-151del Single submitter
  • c.1563-17T>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1665+16_1665+19del Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1665+239G>A Single submitter
  • c.1665+306A>G Single submitter
  • c.1666-151T>C Single submitter
  • c.1749+197C>T Single submitter
  • c.1749+20G>A Single submitter
  • c.1750-19G>A Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1833+19T>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1833+9A>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1833+9A>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1834-17del Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1834-222G>A Single submitter
  • c.1834-85T>C Single submitter
  • c.1911+19dup Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1911+20C>A Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1911+20C>T Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1912-18A>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1912-260A>T Single submitter
  • c.1912-5T>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.2008-140_2008-139insATA Single submitter
  • c.2139+13A>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.2139+8T>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.214+16C>T Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.214+17G>A Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.214+8A>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.2140-14A>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.2140-158G>T Single submitter
  • c.2140-15T>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.2140-16C>T Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.215-18A>T Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.215-20_215-19del Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.215-4G>A Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.2205+15C>T Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.2205+7A>G Single submitter
  • c.2206-12_2206-10del Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.2206-12C>T Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.2206-20T>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.2434+10G>T Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.2434+13G>A Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.2434+69_2434+70del Single submitter
  • c.2434+9A>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.2435-15A>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.2435-16T>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.2435-8T>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.2587+16T>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.2587+18G>T Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.2588-20T>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.2588-4A>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.2764+11A>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.2764+12T>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.2765-16C>T Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.2765-17dup Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.2885+142T>C Single submitter
  • c.2885+17C>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.2885+17C>T Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.2886-155T>G Single submitter
  • c.2886-15A>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.2974+248C>G Single submitter
  • c.2975-14C>T Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.312+195G>A Single submitter
  • c.313-20G>A Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.313-250C>T Single submitter
  • c.313-4C>G Single submitter
  • c.3222+16A>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.3222+17A>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.3223-120del Single submitter
  • c.3223-161A>T Single submitter
  • c.3223-20T>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.3374+11T>A Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.3374+8T>A Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.3374+9A>G Single submitter
  • c.3375-10T>A Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.3375-12T>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.3375-174C>T Single submitter
  • c.3583+19G>A Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.3584-11T>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.3584-19_3584-15del Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.3584-20A>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.3584-280T>A Single submitter
  • c.3584-281_3584-280dup Single submitter
  • c.3714+16A>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.3714+19A>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.3715-12A>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.3847+13C>T Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.3847+16_3847+17del Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.3848-10T>G Single submitter
  • c.3848-4A>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.396+131A>G Single submitter
  • c.396+20A>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.396+41A>G Single submitter
  • c.397-10T>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.397-11G>A Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.397-13C>T Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.397-20T>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.397-4A>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.397-5T>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.464+19T>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.551+217T>C Single submitter
  • c.551+8A>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.551+9A>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.552-13T>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.552-20C>A Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.552-5T>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.606+159C>T Single submitter
  • c.607-16A>T Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.807+16T>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.807+8C>A Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.808-20T>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.808-6T>A Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.868+20A>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.868+87G>A Single submitter
  • c.869-13T>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.869-14A>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.869-17T>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.869-6A>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.869-7C>T Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.-48-181T>A Single submitter
  • c.-48-245A>T Single submitter
  • c.-504T>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.-9A>G Single submitter
  • c.*1222T>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ala1042= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ala1279= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ala259= Single submitter
  • p.Ala312= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ala320Thr Single submitter Inborn genetic diseases
  • p.Ala320Val Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ala512= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ala551= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ala733= Single submitter
  • p.Ala772= Single submitter
  • p.Ala790Thr Single submitter motor neuron disorder
  • p.Arg1146= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Arg484Gly Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Arg600= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Arg812= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Asn1053= Single submitter
  • p.Asn1114= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Asn1257= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Asn154= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Asn242Ile Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Asn731= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Asn996= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Asp128= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Asp753= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Cys1207= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Gln1031= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Gln1281= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Gln29= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Gln297= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Gln343= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Gln389= Single submitter
  • p.Gln393= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Gln650= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Gln696= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Gln932= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Gln999= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Glu1012Ala Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Glu1156= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Glu1158= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Glu12= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Glu2= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Glu369= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Glu374= Single submitter
  • p.Glu462Val Single submitter
  • p.Glu599= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Glu625= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Glu817= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Gly1226= Single submitter
  • p.Gly27= Single submitter
  • p.Gly429= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Gly690Ser Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Gly844= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Gly97= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.His1193= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.His330= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.His494= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ile479= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ile63= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ile633= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Leu1049= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Leu1105= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Leu116= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Leu125= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Leu159= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Leu193= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Leu231= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Leu413Pro Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Leu480= Single submitter
  • p.Leu526= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Leu589= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Leu607= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Leu803= Single submitter
  • p.Leu854= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Lys1162= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Lys3= Single submitter
  • p.Lys33= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Lys576= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Lys648= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Lys695= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Lys786= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Met628Val Single submitter Inborn genetic diseases
  • p.Phe1043= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Phe1068= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Pro1037= Single submitter
  • p.Pro1073= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Pro835= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Pro873= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ser1080= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ser1159= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ser281= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ser383= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ser414= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ser435= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ser635= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ser782= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ser913= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Thr1078= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Thr156= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Thr730= Single submitter
  • p.Thr805= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Tyr169= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Tyr227= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Val1027= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Val1126= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Val235= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Val64= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Val665= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1020+8C>T No assertion criteria NEK1-related disorder
  • c.1912-8A>C No assertion criteria NEK1-related disorder
  • c.2886-9C>T No assertion criteria NEK1-related disorder
  • c.3583+7G>A No assertion criteria NEK1-related disorder
  • c.3848-3C>T No assertion criteria NEK1-related disorder
  • c.807+7del No assertion criteria NEK1-related disorder
  • c.868+6T>G No assertion criteria NEK1-related disorder
  • c.869-4C>T No assertion criteria NEK1-related disorder
  • p.Leu647= No assertion criteria NEK1-related disorder
  • p.Tyr180= No assertion criteria NEK1-related disorder
  • p.Val1097= No assertion criteria NEK1-related disorder

Uncertain significance 456

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1080+4T>C Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1140+4G>A Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • c.214+6A>G Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • c.*107A>G Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ala1187Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala18Thr Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Ala463Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala517Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Ala551Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala642Gly Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Arg1146Lys Multiple submitters amyotrophic lateral sclerosis, susceptibility to, 24 ⚠
  • p.Arg161Gln Multiple submitters Inborn genetic diseases
  • p.Arg232Cys Multiple submitters NEK1-related disorder ⚠
  • p.Arg261Cys Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Arg542Gln Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Arg630Cys Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Arg643His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg653Gln Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Arg721Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg738Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg742His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg785Cys Multiple submitters NEK1-related disorder
  • p.Arg966Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Asn1196Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Asn1284Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Asn598Ser Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Asn732Asp Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Asp1099His Multiple submitters Inborn genetic diseases ⚠
  • p.Asp1243Tyr Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Asp679Gly Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Asp804Gly Multiple submitters NEK1-related disorder ⚠
  • p.Asp997Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Cys163Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gln650Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu1039Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Glu1151Lys Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Glu1190Lys Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Glu360Asp Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Glu610Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu765Gly Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Glu867Lys Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Glu960Gly Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Gly1199Ser Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Gly27Asp Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Gly490Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Gly493Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Gly825Val Multiple submitters connective tissue disorder ⚠
  • p.Ile1110Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile1258Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile1270Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ile989Met Multiple submitters Inborn genetic diseases ⚠
  • p.Leu474Phe Multiple submitters NEK1-related disorder ⚠
  • p.Leu507Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Lys278Arg Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Lys375Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Lys637= Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Lys648Glu Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Lys654Met Multiple submitters Inborn genetic diseases ⚠
  • p.Lys709Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Lys841Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Lys872Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Lys939Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Met555Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met80Val Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Phe1041Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro1050Ser Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Pro222Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro268Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro434Gln Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Pro498Arg Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Pro682Leu Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Pro993Ala Multiple submitters connective tissue disorder ⚠
  • p.Ser834Cys Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Thr198Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Thr344Ala Multiple submitters NEK1-related disorder ⚠
  • p.Thr982Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr30Cys Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Tyr82Asn Multiple submitters short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • c.1020+4T>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1080+3A>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1140+3A>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.118-10C>T Single submitter connective tissue disorder
  • c.1191+5G>A Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1191+6_1191+7del Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1267-11T>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1430+19_1430+20delinsAG Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1562+20T>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1834-11T>A Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1911+3A>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.1911+6G>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.2435-3T>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.2435-4A>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.2587+3A>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.2587+5G>A Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.2765-5T>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.2974+1G>T Single submitter asphyxiating thoracic dystrophy 1
  • c.2974+4A>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.2974+5G>A Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.3222+15C>A Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.3222+7A>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.3374+14C>T Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.3374+5G>A Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.3583+5A>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.3583+5A>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.3715-7G>A Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.3847+6A>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.465-3T>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.551+12G>T Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.-275A>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.-289T>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.-441C>T Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.-499G>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.-52T>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.-532A>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.*1062A>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.*1155A>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.*156C>T Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.*354A>T Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.*459A>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.*494A>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.*537T>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.*641T>C Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.*658A>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.*758T>A Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.*806G>A Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.*835A>G Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • c.*996G>A Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ala1042Val Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Ala1139Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala115Val Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Ala160Val Single submitter Inborn genetic diseases ⚠
  • p.Ala202Ser Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Ala290Pro Single submitter ⚠
  • p.Ala305Val Single submitter Inborn genetic diseases ⚠
  • p.Ala415Thr Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Ala423Thr Single submitter orofaciodigital syndrome type II ⚠
  • p.Ala492= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ala492_Gly493insAla Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Ala512Val Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Ala605Thr Single submitter Inborn genetic diseases
  • p.Ala638fs Single submitter motor neuron disorder
  • p.Ala733Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala750Val Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Ala830Thr Single submitter Inborn genetic diseases ⚠
  • p.Arg1101Cys Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Arg1101His Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Arg261Leu Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Arg356Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg356Trp Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Arg400Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg403Lys Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Arg440Gln Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Arg472Gln Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Arg477Gly Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Arg484Cys Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Arg550Gln Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Arg550Gly Single submitter ⚠
  • p.Arg550Pro Single submitter Inborn genetic diseases ⚠
  • p.Arg600Cys Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Arg608Cys Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Arg608Pro Single submitter Inborn genetic diseases ⚠
  • p.Arg630His Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Arg643Cys Single submitter amyotrophic lateral sclerosis
  • p.Arg699Lys Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Arg721Gln Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Arg742Cys Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Arg785His Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Arg861Gly Single submitter Inborn genetic diseases ⚠
  • p.Asn1181Ser Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Asn1189Lys Single submitter Inborn genetic diseases ⚠
  • p.Asn1257Ser Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Asn1261Lys Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Asn154Tyr Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Asn36Ser Single submitter amyotrophic lateral sclerosis ⚠
  • p.Asn402Lys Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Asn411= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Asn461_Glu462insAspAsn Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Asn518Ser Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Asn518Thr Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Asn520= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Asn547Asp Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Asn596Ser Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Asn615Asp Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Asn615His Single submitter ⚠
  • p.Asp1004Val Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Asp103Ala Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Asp103Glu Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Asp1093Glu Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Asp1112Ala Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Asp1112Gly Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Asp1195fs Single submitter
  • p.Asp1195Val Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Asp1243Asn Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Asp1243His Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Asp1277Gly Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Asp1283Gly Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Asp230Gly Single submitter ⚠
  • p.Asp26Gly Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Asp379Gly Single submitter ⚠
  • p.Asp451Gly Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Asp499Val Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Asp679Asn Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Asp924Gly Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Asp924Val Single submitter amyotrophic lateral sclerosis, susceptibility to, 24 ⚠
  • p.Asp965Val Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Asp997Glu Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Cys1003Ser Single submitter Inborn genetic diseases ⚠
  • p.Cys1251Arg Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Cys276Phe Single submitter motor neuron disorder ⚠
  • p.Gln1029Arg Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Gln1031Arg Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Gln1034His Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Gln1135Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln1135Leu Single submitter Inborn genetic diseases ⚠
  • p.Gln343Arg Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Gln377Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln393Lys Single submitter Inborn genetic diseases ⚠
  • p.Gln452Arg Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Gln525Lys Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Gln65Arg Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Gln962= Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Gln962His Single submitter Inborn genetic diseases ⚠
  • p.Glu1152Lys Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Glu1158del Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Glu1185Gln Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Glu1190Asp Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Glu1222Lys Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Glu1224Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu1235Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu1242Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu1286Gly Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Glu204Gly Single submitter ⚠
  • p.Glu274Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu331Lys Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Glu346Gln Single submitter ⚠
  • p.Glu34Asp Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Glu396Gly Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Glu536Ala Single submitter Inborn genetic diseases ⚠
  • p.Glu543Gly Single submitter connective tissue disorder ⚠
  • p.Glu610Gly Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Glu618Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu634Lys Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Glu634Ter Single submitter amyotrophic lateral sclerosis
  • p.Glu657del Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Glu72Ala Single submitter Inborn genetic diseases
  • p.Glu752del Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
  • p.Glu770Asp Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Glu800Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu84Val Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Glu856Lys Single submitter ⚠
  • p.Glu933Lys Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Glu954Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu992Lys Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Gly1150Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly1226Asp Single submitter Inborn genetic diseases
  • p.Gly256Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly296Glu Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Gly408Arg Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Gly416Asp Single submitter ⚠
  • p.Gly417Arg Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Gly430Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly471Asp Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Gly478Glu Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Gly493Arg Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Gly622Arg Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Gly674Arg Single submitter connective tissue disorder ⚠
  • p.Gly685Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly791Arg Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Gly868Glu Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Gly86Glu Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.His1000Pro Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.His1016Pro Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.His1023Gln Single submitter ⚠
  • p.His1048Tyr Single submitter Inborn genetic diseases ⚠
  • p.His1213Arg Single submitter Inborn genetic diseases ⚠
  • p.His1213Asn Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.His1241Arg Single submitter Inborn genetic diseases
  • p.His1265Arg Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.His1265Tyr Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.His226Gln Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.His226Tyr Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.His330Arg Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.His330Asn Single submitter Inborn genetic diseases ⚠
  • p.His338Arg Single submitter Inborn genetic diseases ⚠
  • p.His616Arg Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.His639Pro Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.His687Arg Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.His687Asn Single submitter ⚠
  • p.His775Tyr Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.His813Arg Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Ile10Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile1115Leu Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Ile1125Thr Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Ile1125Val Single submitter Inborn genetic diseases ⚠
  • p.Ile1237Thr Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠
  • p.Ile1240Val Single submitter Inborn genetic diseases ⚠
  • p.Ile1250Val Single submitter ⚠
  • p.Ile134Val Single submitter Inborn genetic diseases ⚠
  • p.Ile149Leu Single submitter amyotrophic lateral sclerosis ⚠
  • p.Ile164Val Single submitter short-rib thoracic dysplasia 6 with or without polydactyly ⚠