Sugi Variant

Sugi Variant/EDAR

EDAR — 381 ClinVar variants

All ClinVar germline EDAR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 144 flagged for review →

51 Pathogenic · 9 Pathogenic/Likely pathogenic · 32 Likely pathogenic · 17 Conflicting · 58 Benign · 10 Benign/Likely benign · 39 Likely benign · 165 Uncertain significance

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

⚑ Evidence disagreements 144

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 5

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

Predictors agree, ClinVar conflicts 11

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

Predictors lean, ClinVar uncertain 78

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

Predictors split 50

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

All EDAR variants

Pathogenic 51

  • c.730+1G>T Multiple submitters ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
  • p.Arg358Ter Multiple submitters autosomal recessive hypohidrotic ectodermal dysplasia
  • p.Cys301Ter Multiple submitters ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Gly382Ser Multiple submitters autosomal recessive hypohidrotic ectodermal dysplasia
  • c.1024+1G>A Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • c.1024+1G>T Single submitter autosomal recessive hypohidrotic ectodermal dysplasia
  • c.1024+2T>C Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • c.442+1G>A Single submitter
  • c.529+1G>A Single submitter ectodermal dysplasia syndrome
  • c.964-1G>A Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • c.(?_998 Single submitter autosomal dominant hypohidrotic ectodermal dysplasia
  • p.Ala378Thr Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Arg89Cys Single submitter autosomal recessive hypohidrotic ectodermal dysplasia
  • p.Arg98Gln Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Asn335fs Single submitter
  • p.Asn365_Ser366insTer Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Asn365fs Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Asp253fs Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Asp386fs Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Cys116Arg Single submitter
  • p.Cys71Tyr Single submitter
  • p.Cys93Ser Single submitter ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
  • p.Gln295_Ser297delinsTer Single submitter
  • p.Glu311fs Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Glu311Ter Single submitter autosomal recessive hypohidrotic ectodermal dysplasia
  • p.Glu433Ter Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Gly390fs Single submitter autosomal recessive hypohidrotic ectodermal dysplasia
  • p.Gly405Ala Single submitter autosomal recessive hypohidrotic ectodermal dysplasia
  • p.Gly405Asp Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Ile388fs Single submitter autosomal recessive hypohidrotic ectodermal dysplasia
  • p.Ile431Thr Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Leu397_Phe398insTer Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Leu427Ser Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Lys327Ter Single submitter autosomal recessive hypohidrotic ectodermal dysplasia
  • p.Lys328fs Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Met391fs Single submitter autosomal recessive hypohidrotic ectodermal dysplasia
  • p.Pro215fs Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Ser407fs Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Thr403Met Single submitter autosomal recessive hypohidrotic ectodermal dysplasia ⚠
  • p.Tyr364fs Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Tyr406Ter Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Tyr69fs Single submitter ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
  • c.51+1G>A No assertion criteria ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
  • c.803+1G>A No assertion criteria ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
  • c.964-1G>C No assertion criteria
  • p.Asp110Ala No assertion criteria ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
  • p.Cys135Tyr No assertion criteria Non-syndromic oligodontia
  • p.Glu354Ter No assertion criteria Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant
  • p.Gly70fs No assertion criteria ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
  • p.Gly95fs No assertion criteria ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Trp434Gly No assertion criteria ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ⚠

Pathogenic/Likely pathogenic 9

  • p.Ala26Val Multiple submitters Inborn genetic diseases ⚠
  • p.Arg25Ter Multiple submitters ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Arg358Gln Multiple submitters autosomal recessive hypohidrotic ectodermal dysplasia ⚠
  • p.Arg420Gln Multiple submitters autosomal recessive hypohidrotic ectodermal dysplasia
  • p.Arg89His Multiple submitters ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Arg98Trp Multiple submitters autosomal recessive hypohidrotic ectodermal dysplasia
  • p.Cys428Arg Multiple submitters autosomal recessive hypohidrotic ectodermal dysplasia
  • p.Lys240fs Multiple submitters ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
  • p.Trp374Ter Multiple submitters ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant

Likely pathogenic 32

  • p.Cys148Arg Multiple submitters ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
  • c.175-2A>G Single submitter autosomal recessive hypohidrotic ectodermal dysplasia
  • c.52-25_52-8del Single submitter ectodermal dysplasia syndrome
  • c.529+1G>T Single submitter
  • c.964-4_964delinsCGGCTTT Single submitter Inborn genetic diseases
  • p.Arg325Trp Single submitter autosomal recessive hypohidrotic ectodermal dysplasia
  • p.Arg375His Single submitter ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
  • p.Arg420Trp Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Cys113Tyr Single submitter ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
  • p.Cys31Ter Single submitter ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
  • p.Glu410Gly Single submitter
  • p.Glu425Ter Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Gly182fs Single submitter ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
  • p.Gly394Asp Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Gly394fs Single submitter Inborn genetic diseases
  • p.Gly405Arg Single submitter autosomal recessive hypohidrotic ectodermal dysplasia
  • p.Gly405Ser Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Ile329Ser Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Ile401Thr Single submitter
  • p.Ile431Met Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Leu412fs Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Leu43fs Single submitter
  • p.Phe96Ser Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Ser362fs Single submitter ectodermal dysplasia syndrome
  • p.Ser402Asn Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Thr363fs Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Thr403Arg Single submitter autosomal recessive hypohidrotic ectodermal dysplasia ⚠
  • p.Trp434Ter Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Tyr136Ter Single submitter
  • p.Val340Leu Single submitter ⚠
  • p.Val424Gly Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Cys428Ter No assertion criteria ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant

Conflicting classifications of pathogenicity 17

  • p.Ala155Thr Single submitter hypohidrotic ectodermal dysplasia ⚠
  • p.Ala24Asp Single submitter ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ⚠
  • p.Arg282Trp Single submitter Inborn genetic diseases ⚠
  • p.Cys428Trp Single submitter autosomal recessive hypohidrotic ectodermal dysplasia ⚠
  • p.Cys47Trp Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Glu379Lys Single submitter autosomal recessive hypohidrotic ectodermal dysplasia ⚠
  • p.Gly161Ser Single submitter Inborn genetic diseases ⚠
  • p.Ile329Phe Single submitter autosomal recessive hypohidrotic ectodermal dysplasia ⚠
  • p.Ile388Thr Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Leu377Pro Single submitter ectodermal dysplasia syndrome ⚠
  • p.Met107Val Single submitter hypohidrotic ectodermal dysplasia ⚠
  • p.Pro49Leu Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Pro75Leu Single submitter hypohidrotic ectodermal dysplasia ⚠
  • p.Ser23Leu Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Ser380Arg Single submitter hypohidrotic ectodermal dysplasia ⚠
  • p.Val15Ile Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Val284Ile Single submitter Inborn genetic diseases ⚠

Benign 58

  • c.1024+16del Multiple submitters ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • c.1024+44C>T Multiple submitters ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • c.1024+68C>A Multiple submitters
  • c.1025-101T>A Multiple submitters
  • c.174+21G>T Multiple submitters
  • c.174+48T>C Multiple submitters
  • c.357-127G>C Multiple submitters
  • c.442+170A>G Multiple submitters
  • c.442+171T>C Multiple submitters
  • c.442+50C>T Multiple submitters
  • c.52-135C>T Multiple submitters
  • c.655+30T>C Multiple submitters ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • c.656-37G>A Multiple submitters
  • c.731-99C>T Multiple submitters
  • c.804-42C>A Multiple submitters
  • c.-18-109C>T Multiple submitters
  • c.*1129A>G Multiple submitters hypohidrotic ectodermal dysplasia
  • c.*1133C>T Multiple submitters hypohidrotic ectodermal dysplasia
  • c.*1598T>C Multiple submitters hypohidrotic ectodermal dysplasia
  • c.*2426C>T Multiple submitters hypohidrotic ectodermal dysplasia
  • c.*42G>T Multiple submitters hypohidrotic ectodermal dysplasia
  • p.Asp271= Multiple submitters ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Asp393= Multiple submitters autosomal recessive hypohidrotic ectodermal dysplasia
  • p.Cys352= Multiple submitters autosomal recessive hypohidrotic ectodermal dysplasia
  • p.Phe381= Multiple submitters ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Ser19= Multiple submitters ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Ser250= Multiple submitters autosomal recessive hypohidrotic ectodermal dysplasia
  • p.Val246Met Multiple submitters ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Val370Ala Multiple submitters hypohidrotic ectodermal dysplasia ⚠
  • c.1024+147T>C Single submitter
  • c.1024+16dup Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • c.175-133C>G Single submitter
  • c.175-237G>A Single submitter
  • c.175-238C>G Single submitter
  • c.357-18C>G Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • c.442+14T>C Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • c.443-199dup Single submitter
  • c.804-102C>T Single submitter
  • c.804-214T>C Single submitter
  • c.804-266A>C Single submitter
  • c.963+210del Single submitter
  • c.964-214C>A Single submitter
  • c.-18-14C>T Single submitter hypohidrotic ectodermal dysplasia
  • c.-189T>C Single submitter hypohidrotic ectodermal dysplasia
  • c.*1107C>T Single submitter hypohidrotic ectodermal dysplasia
  • c.*1678C>T Single submitter hypohidrotic ectodermal dysplasia
  • c.*1774G>A Single submitter hypohidrotic ectodermal dysplasia
  • c.*1900C>T Single submitter hypohidrotic ectodermal dysplasia
  • c.*2078T>C Single submitter hypohidrotic ectodermal dysplasia
  • c.*2141T>C Single submitter hypohidrotic ectodermal dysplasia
  • c.*254C>T Single submitter hypohidrotic ectodermal dysplasia
  • c.*328G>A Single submitter hypohidrotic ectodermal dysplasia
  • c.*895C>T Single submitter hypohidrotic ectodermal dysplasia
  • c.*999C>T Single submitter hypohidrotic ectodermal dysplasia
  • p.Ala369Pro Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Ala435= Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Pro49= Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Ser283= Single submitter hypohidrotic ectodermal dysplasia

Benign/Likely benign 10

  • c.357-4G>A Multiple submitters hypohidrotic ectodermal dysplasia
  • c.*1248G>T Multiple submitters hypohidrotic ectodermal dysplasia
  • c.*757T>C Multiple submitters hypohidrotic ectodermal dysplasia
  • c.*935C>T Multiple submitters hypohidrotic ectodermal dysplasia
  • p.Ala320= Multiple submitters autosomal recessive hypohidrotic ectodermal dysplasia
  • p.Glu241= Multiple submitters ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Lys81= Multiple submitters hypohidrotic ectodermal dysplasia
  • p.Pro290= Multiple submitters hypohidrotic ectodermal dysplasia
  • p.Ser274= Multiple submitters hypohidrotic ectodermal dysplasia
  • p.Tyr69= Multiple submitters autosomal recessive hypohidrotic ectodermal dysplasia

Likely benign 39

  • c.731-4G>T Multiple submitters ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Val339= Multiple submitters autosomal recessive hypohidrotic ectodermal dysplasia
  • c.1025-14A>G Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • c.656-16C>A Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • c.804-17C>T Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • c.964-16C>T Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • c.964-7_964-6del Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • c.*1364T>G Single submitter hypohidrotic ectodermal dysplasia
  • c.*1366A>G Single submitter hypohidrotic ectodermal dysplasia
  • c.*16G>C Single submitter
  • p.Ala242= Single submitter
  • p.Ala26= Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Ala76Val Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Asn34= Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Asp110= Single submitter
  • p.Asp236= Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Gly32= Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.His376= Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Leu305= Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Leu308= Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Leu353= Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Pro14= Single submitter
  • p.Pro225= Single submitter hypohidrotic ectodermal dysplasia
  • p.Pro49Gln Single submitter Inborn genetic diseases
  • p.Pro52= Single submitter hypohidrotic ectodermal dysplasia
  • p.Pro73= Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Ser268= Single submitter Inborn genetic diseases
  • p.Thr346= Single submitter autosomal recessive hypohidrotic ectodermal dysplasia
  • p.Thr346Met Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Thr373= Single submitter autosomal recessive hypohidrotic ectodermal dysplasia
  • p.Thr403= Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Tyr120= Single submitter autosomal recessive hypohidrotic ectodermal dysplasia
  • p.Val247= Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Val284= Single submitter
  • p.Val339= Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Ala446= No assertion criteria EDAR-related disorder
  • p.Leu43= No assertion criteria EDAR-related disorder
  • p.Leu432= No assertion criteria EDAR-related disorder
  • p.Pro127= No assertion criteria EDAR-related disorder

Uncertain significance 165

  • p.Ala291Thr Multiple submitters ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ⚠
  • p.Asn335Thr Multiple submitters ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Asp110Asn Multiple submitters ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Asp331Asn Multiple submitters ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Glu35Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gly321Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly32Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Leu353Phe Multiple submitters ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ⚠
  • p.Pro225Leu Multiple submitters ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Pro298Arg Multiple submitters ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Pro345Ser Multiple submitters ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Pro52Leu Multiple submitters ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Pro56Arg Multiple submitters ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Ser268Cys Multiple submitters hypohidrotic ectodermal dysplasia ⚠
  • p.Ser286Thr Multiple submitters autosomal recessive hypohidrotic ectodermal dysplasia ⚠
  • p.Thr41Lys Multiple submitters ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Val203Ile Multiple submitters ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Val336Met Multiple submitters ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Val437Phe Multiple submitters autosomal recessive hypohidrotic ectodermal dysplasia ⚠
  • c.442+5del Single submitter autosomal recessive hypohidrotic ectodermal dysplasia
  • c.51+3A>G Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • c.656-11TC[2] Single submitter autosomal recessive hypohidrotic ectodermal dysplasia
  • c.731-20A>G Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • c.803+4T>G Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • c.-129G>T Single submitter hypohidrotic ectodermal dysplasia
  • c.-226T>C Single submitter hypohidrotic ectodermal dysplasia
  • c.-235G>A Single submitter hypohidrotic ectodermal dysplasia
  • c.-238C>T Single submitter hypohidrotic ectodermal dysplasia
  • c.-256C>T Single submitter hypohidrotic ectodermal dysplasia
  • c.-30A>C Single submitter hypohidrotic ectodermal dysplasia
  • c.-4G>A Single submitter hypohidrotic ectodermal dysplasia
  • c.-71C>G Single submitter hypohidrotic ectodermal dysplasia
  • c.*1108G>A Single submitter hypohidrotic ectodermal dysplasia
  • c.*1181C>T Single submitter hypohidrotic ectodermal dysplasia
  • c.*1199C>T Single submitter hypohidrotic ectodermal dysplasia
  • c.*1226A>C Single submitter hypohidrotic ectodermal dysplasia
  • c.*1298G>C Single submitter hypohidrotic ectodermal dysplasia
  • c.*1319C>G Single submitter hypohidrotic ectodermal dysplasia
  • c.*1435G>A Single submitter hypohidrotic ectodermal dysplasia
  • c.*1535C>T Single submitter hypohidrotic ectodermal dysplasia
  • c.*1563C>T Single submitter hypohidrotic ectodermal dysplasia
  • c.*1647C>T Single submitter hypohidrotic ectodermal dysplasia
  • c.*1703G>A Single submitter hypohidrotic ectodermal dysplasia
  • c.*1710G>C Single submitter hypohidrotic ectodermal dysplasia
  • c.*1761G>A Single submitter hypohidrotic ectodermal dysplasia
  • c.*1798G>C Single submitter hypohidrotic ectodermal dysplasia
  • c.*188G>C Single submitter hypohidrotic ectodermal dysplasia
  • c.*191C>T Single submitter hypohidrotic ectodermal dysplasia
  • c.*2016G>C Single submitter hypohidrotic ectodermal dysplasia
  • c.*2189G>T Single submitter hypohidrotic ectodermal dysplasia
  • c.*2376T>C Single submitter hypohidrotic ectodermal dysplasia
  • c.*242T>C Single submitter hypohidrotic ectodermal dysplasia
  • c.*402G>A Single submitter hypohidrotic ectodermal dysplasia
  • c.*447T>C Single submitter hypohidrotic ectodermal dysplasia
  • c.*485C>T Single submitter hypohidrotic ectodermal dysplasia
  • c.*486G>A Single submitter hypohidrotic ectodermal dysplasia
  • c.*499C>T Single submitter hypohidrotic ectodermal dysplasia
  • c.*546C>T Single submitter hypohidrotic ectodermal dysplasia
  • c.*602T>A Single submitter hypohidrotic ectodermal dysplasia
  • c.*625C>A Single submitter hypohidrotic ectodermal dysplasia
  • c.*639T>G Single submitter hypohidrotic ectodermal dysplasia
  • c.*714T>G Single submitter hypohidrotic ectodermal dysplasia
  • c.*791A>T Single submitter hypohidrotic ectodermal dysplasia
  • c.*867A>G Single submitter hypohidrotic ectodermal dysplasia
  • c.*976A>G Single submitter hypohidrotic ectodermal dysplasia
  • p.Ala174Val Single submitter Inborn genetic diseases ⚠
  • p.Ala187Val Single submitter hypohidrotic ectodermal dysplasia ⚠
  • p.Ala201Thr Single submitter autosomal recessive hypohidrotic ectodermal dysplasia ⚠
  • p.Ala217Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala260Val Single submitter Inborn genetic diseases ⚠
  • p.Ala334Thr Single submitter autosomal recessive hypohidrotic ectodermal dysplasia ⚠
  • p.Ala378Val Single submitter EDAR-related disorder ⚠
  • p.Ala423Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala99Thr Single submitter Inborn genetic diseases ⚠
  • p.Arg282Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg400Gly Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Arg400Pro Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Asn270Asp Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Asn276Asp Single submitter autosomal recessive hypohidrotic ectodermal dysplasia ⚠
  • p.Asn335Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn365Ser Single submitter autosomal recessive hypohidrotic ectodermal dysplasia ⚠
  • p.Asp386Asn Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Asp399Ala Single submitter Inborn genetic diseases ⚠
  • p.Asp422Asn Single submitter autosomal recessive hypohidrotic ectodermal dysplasia ⚠
  • p.Asp422Tyr Single submitter autosomal recessive hypohidrotic ectodermal dysplasia ⚠
  • p.Asp430Asn Single submitter hypohidrotic ectodermal dysplasia ⚠
  • p.Asp92Gly Single submitter autosomal recessive hypohidrotic ectodermal dysplasia ⚠
  • p.Cys31Trp Single submitter autosomal recessive hypohidrotic ectodermal dysplasia ⚠
  • p.Cys337Gly Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Cys60Tyr Single submitter Inborn genetic diseases ⚠
  • p.Cys87Arg Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Cys87Gly Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Glu230Asp Single submitter ⚠
  • p.Glu237Ala Single submitter Inborn genetic diseases ⚠
  • p.Glu241Ala Single submitter Inborn genetic diseases ⚠
  • p.Glu269Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu311Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu425Lys Single submitter autosomal recessive hypohidrotic ectodermal dysplasia ⚠
  • p.Glu55Lys Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Glu67_Asp68insGlyTyrGlyThrLysAspGlu Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Glu67Lys Single submitter Inborn genetic diseases ⚠
  • p.Gly161= Single submitter
  • p.Gly389Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly42Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly53Glu Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Gly63Ser Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Gly70Ser Single submitter hypohidrotic ectodermal dysplasia ⚠
  • p.Gly83Asp Single submitter Inborn genetic diseases ⚠
  • p.Ile130Asn Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Ile190Thr Single submitter autosomal recessive hypohidrotic ectodermal dysplasia ⚠
  • p.Ile202= Single submitter hypohidrotic ectodermal dysplasia
  • p.Ile322Leu Single submitter Inborn genetic diseases ⚠
  • p.Ile401Asn Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Leu204Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu343= Single submitter hypohidrotic ectodermal dysplasia
  • p.Leu343Arg Single submitter Inborn genetic diseases ⚠
  • p.Leu383Pro Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Leu412Phe Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Leu427Trp Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Leu432Pro Single submitter ⚠
  • p.Lys252Arg Single submitter Hypohidrotic Ectodermal Dysplasia, Dominant ⚠
  • p.Lys355del Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Met107Ile Single submitter Inborn genetic diseases ⚠
  • p.Met133Leu Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Met192Arg Single submitter autosomal recessive hypohidrotic ectodermal dysplasia ⚠
  • p.Met192Val Single submitter ⚠
  • p.Met395Val Single submitter hypohidrotic ectodermal dysplasia ⚠
  • p.Phe208Leu Single submitter ⚠
  • p.Phe255Cys Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Phe255Tyr Single submitter Inborn genetic diseases ⚠
  • p.Phe381Ser Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Pro118Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro218Ala Single submitter Inborn genetic diseases ⚠
  • p.Pro298Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro349del Single submitter
  • p.Pro49Arg Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Pro56Ser Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Pro75Ser Single submitter Inborn genetic diseases ⚠
  • p.Ser137Thr Single submitter Inborn genetic diseases ⚠
  • p.Ser163Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser166Asn Single submitter Inborn genetic diseases ⚠
  • p.Ser169Phe Single submitter Inborn genetic diseases ⚠
  • p.Ser283Arg Single submitter hypohidrotic ectodermal dysplasia ⚠
  • p.Ser304Leu Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Thr259Ser Single submitter Inborn genetic diseases ⚠
  • p.Thr346Lys Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Thr392_Met395del Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • p.Thr392Ile Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Thr8Met Single submitter Inborn genetic diseases ⚠
  • p.Trp434Ser Single submitter Inborn genetic diseases ⚠
  • p.Tyr131Cys Single submitter autosomal recessive hypohidrotic ectodermal dysplasia ⚠
  • p.Tyr62= Single submitter hypohidrotic ectodermal dysplasia
  • p.Val149Ala Single submitter Inborn genetic diseases ⚠
  • p.Val17Met Single submitter Inborn genetic diseases ⚠
  • p.Val229Met Single submitter Inborn genetic diseases ⚠
  • p.Val336Glu Single submitter Inborn genetic diseases ⚠
  • p.Val339Ala Single submitter Inborn genetic diseases ⚠
  • p.Val340Met Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Val371Ala Single submitter Inborn genetic diseases ⚠
  • p.Val416Met Single submitter ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ⚠
  • p.Val424Met Single submitter autosomal recessive hypohidrotic ectodermal dysplasia ⚠
  • p.Val4Leu Single submitter Inborn genetic diseases ⚠
  • p.Val72Asp Single submitter Inborn genetic diseases ⚠
  • p.Val72Ile Single submitter Inborn genetic diseases ⚠
  • c.731-62T>C No assertion criteria