TSPEAR — 541 ClinVar variants

All ClinVar germline TSPEAR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 222 flagged for review →

36 Pathogenic · 12 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 43 Conflicting · 42 Benign · 19 Benign/Likely benign · 159 Likely benign · 216 Uncertain significance

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

⚑ Evidence disagreements 222

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

Predictors agree, ClinVar conflicts 26

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

TSPEAR p.Ala140Asp Conflicting Single submitter
Inborn genetic diseases
TSPEAR p.Ala140Thr Conflicting Single submitter
TSPEAR p.Ala14Val Conflicting Single submitter
Inborn genetic diseases
TSPEAR p.Ala387Glu Conflicting Single submitter
TSPEAR p.Ala56Val Conflicting Single submitter
Inborn genetic diseases
TSPEAR p.Arg122Gln Conflicting Single submitter
Inborn genetic diseases
TSPEAR p.Arg144Gln Conflicting Single submitter
Inborn genetic diseases
TSPEAR p.Arg291Gln Conflicting Single submitter
TSPEAR p.Arg444Trp Conflicting Single submitter
tooth agenesis, selective, 10
TSPEAR p.Arg57Gln Conflicting Single submitter
Inborn genetic diseases
TSPEAR p.Arg57Trp Conflicting Single submitter
TSPEAR p.Asp115Asn Conflicting Single submitter
TSPEAR p.Cys637Tyr Conflicting Single submitter
TSPEAR p.Gln21Arg Conflicting Single submitter
Inborn genetic diseases
TSPEAR p.Glu113Lys Conflicting Single submitter
Inborn genetic diseases
TSPEAR p.Leu119Phe Conflicting Single submitter
Inborn genetic diseases
TSPEAR p.Leu490Gln Conflicting Single submitter
autosomal recessive nonsyndromic hearing loss 98
TSPEAR p.Leu660Arg Conflicting Single submitter
Inborn genetic diseases
TSPEAR p.Phe626Ser Conflicting Single submitter
ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
TSPEAR p.Ser223Leu Conflicting Single submitter
TSPEAR p.Ser505Leu Conflicting Single submitter
Inborn genetic diseases
TSPEAR p.Thr270Met Conflicting Single submitter
Inborn genetic diseases
TSPEAR p.Trp640Arg Conflicting Single submitter
Inborn genetic diseases
TSPEAR p.Tyr416Ser Conflicting Single submitter
Inborn genetic diseases
TSPEAR p.Val353Ile Conflicting Single submitter
Inborn genetic diseases
TSPEAR p.Val51Ile Conflicting Single submitter

Predictors lean, ClinVar uncertain 146

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

TSPEAR p.Ala166Thr Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Ala225Thr Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Ala352Thr Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Ala424Thr Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Ala439Glu Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Ala44Val Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Ala472Thr Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Ala628Val Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Ala642Gly Uncertain significance Multiple submitters
TSPEAR p.Arg134Leu Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Arg156His Uncertain significance Multiple submitters
TSPEAR p.Arg203Gln Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Arg204Met Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Arg244Trp Uncertain significance Multiple submitters
TSPEAR p.Arg30Cys Uncertain significance Multiple submitters
TSPEAR p.Arg334His Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Arg669His Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Asn390Asp Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Asp174His Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Asp180Asn Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Asp180Val Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Asp447Asn Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Asp607Asn Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Glu358Lys Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Glu395Asp Uncertain significance Multiple submitters
TSPEAR p.Glu431Lys Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Glu466Lys Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Glu596Asp Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Glu596Lys Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Glu658Lys Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Gly195Arg Uncertain significance Multiple submitters
TSPEAR p.Gly195Glu Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Gly212Glu Uncertain significance Multiple submitters
TSPEAR p.Gly293Asp Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Gly446Cys Uncertain significance Multiple submitters
TSPEAR p.His370Arg Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.His370Gln Uncertain significance Multiple submitters
TSPEAR p.Leu121Pro Uncertain significance Multiple submitters
TSPEAR p.Leu271Arg Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Lys194Asn Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Phe199Val Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Phe532Ile Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Pro25His Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Pro460Leu Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Thr173Met Uncertain significance Multiple submitters
TSPEAR p.Thr462Ser Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Thr646Lys Uncertain significance Multiple submitters
TSPEAR p.Thr646Met Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Trp458Gly Uncertain significance Multiple submitters
TSPEAR p.Val239Met Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Val298Ala Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Val564Ile Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Val627Met Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Val90Ala Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Val90Ile Uncertain significance Multiple submitters
TSPEAR c.304-5450G>T Uncertain significance Single submitter
autosomal recessive nonsyndromic hearing loss 98
TSPEAR p.Ala235Gly Uncertain significance Single submitter
TSPEAR p.Ala235Ser Uncertain significance Single submitter
Inborn genetic diseases
TSPEAR p.Ala283Thr Uncertain significance Single submitter
Inborn genetic diseases
TSPEAR p.Ala308Thr Uncertain significance Single submitter
TSPEAR p.Ala345Pro Uncertain significance Single submitter
TSPEAR p.Ala36Glu Uncertain significance Single submitter
TSPEAR p.Ala36Val Uncertain significance Single submitter
Inborn genetic diseases
TSPEAR p.Ala372Thr Uncertain significance Single submitter
Inborn genetic diseases
TSPEAR p.Ala424Val Uncertain significance Single submitter
TSPEAR p.Ala441Pro Uncertain significance Single submitter
TSPEAR-related disorder
TSPEAR p.Ala44Gly Uncertain significance Single submitter
TSPEAR p.Ala493Val Uncertain significance Single submitter
TSPEAR p.Ala642Val Uncertain significance Single submitter
Inborn genetic diseases
TSPEAR p.Ala65Asp Uncertain significance Single submitter
Inborn genetic diseases
TSPEAR p.Arg203Trp Uncertain significance Single submitter
TSPEAR p.Arg244Gly Uncertain significance Single submitter
Inborn genetic diseases
TSPEAR p.Arg291Trp Uncertain significance Single submitter
Inborn genetic diseases
TSPEAR p.Arg347His Uncertain significance Single submitter
Inborn genetic diseases
TSPEAR p.Arg510Gln Uncertain significance Single submitter
TSPEAR p.Arg665Gln Uncertain significance Single submitter
TSPEAR p.Arg67Gly Uncertain significance Single submitter
Inborn genetic diseases
TSPEAR p.Asp154His Uncertain significance Single submitter
TSPEAR p.Asp184Asn Uncertain significance Single submitter
TSPEAR p.Asp184Tyr Uncertain significance Single submitter
Inborn genetic diseases
TSPEAR p.Asp255Gly Uncertain significance Single submitter
TSPEAR p.Gln21Leu Uncertain significance Single submitter
Inborn genetic diseases
TSPEAR p.Gln519Leu Uncertain significance Single submitter
TSPEAR p.Gln79His Uncertain significance Single submitter
Inborn genetic diseases
TSPEAR p.Gln79Pro Uncertain significance Single submitter
Inborn genetic diseases
TSPEAR p.Glu281Lys Uncertain significance Single submitter
TSPEAR p.Glu301Lys Uncertain significance Single submitter
Inborn genetic diseases
TSPEAR p.Glu317Gly Uncertain significance Single submitter
TSPEAR p.Glu392Gln Uncertain significance Single submitter
Inborn genetic diseases
TSPEAR p.Gly167Ser Uncertain significance Single submitter
Inborn genetic diseases
TSPEAR p.Gly176Ser Uncertain significance Single submitter
Inborn genetic diseases
TSPEAR p.Gly19Arg Uncertain significance Single submitter
TSPEAR p.Gly434Arg Uncertain significance Single submitter
Inborn genetic diseases
TSPEAR p.Gly47Glu Uncertain significance Single submitter
TSPEAR p.Gly498Asp Uncertain significance Single submitter
TSPEAR p.Gly55Ser Uncertain significance Single submitter
Inborn genetic diseases
TSPEAR p.Gly608Arg Uncertain significance Single submitter
TSPEAR p.Gly622Ser Uncertain significance Single submitter
TSPEAR p.His504Pro Uncertain significance Single submitter
TSPEAR p.Ile267Val Uncertain significance Single submitter
TSPEAR p.Ile384Thr Uncertain significance Single submitter
Inborn genetic diseases
TSPEAR p.Ile419Thr Uncertain significance Single submitter
TSPEAR p.Ile455Met Uncertain significance Single submitter
TSPEAR p.Ile89Val Uncertain significance Single submitter
Inborn genetic diseases
TSPEAR p.Leu229Pro Uncertain significance Single submitter
ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
TSPEAR p.Leu507Phe Uncertain significance Single submitter
TSPEAR p.Leu517Phe Uncertain significance Single submitter
TSPEAR p.Lys360Arg Uncertain significance Single submitter
TSPEAR p.Met211Val Uncertain significance Single submitter
TSPEAR p.Met69Val Uncertain significance Single submitter
Inborn genetic diseases
TSPEAR p.Phe361Ser Uncertain significance Single submitter
Inborn genetic diseases
TSPEAR p.Phe361Tyr Uncertain significance Single submitter
Inborn genetic diseases
TSPEAR p.Phe378Cys Uncertain significance Single submitter
TSPEAR p.Phe430Ser Uncertain significance Single submitter
Inborn genetic diseases
TSPEAR p.Phe489Ser Uncertain significance Single submitter
TSPEAR p.Pro236Ser Uncertain significance Single submitter
TSPEAR p.Pro276Leu Uncertain significance Single submitter
TSPEAR p.Pro40Leu Uncertain significance Single submitter
TSPEAR p.Pro659Ser Uncertain significance Single submitter
TSPEAR p.Pro66Ala Uncertain significance Single submitter
TSPEAR p.Pro72Ala Uncertain significance Single submitter
TSPEAR p.Pro84Ser Uncertain significance Single submitter
TSPEAR p.Ser483Ile Uncertain significance Single submitter
TSPEAR p.Ser631Arg Uncertain significance Single submitter
Inborn genetic diseases
TSPEAR p.Ser654Pro Uncertain significance Single submitter
Inborn genetic diseases
TSPEAR p.Ser70Asn Uncertain significance Single submitter
Inborn genetic diseases
TSPEAR p.Thr265Ile Uncertain significance Single submitter
TSPEAR p.Thr27Arg Uncertain significance Single submitter
TSPEAR p.Thr369Met Uncertain significance Single submitter
TSPEAR p.Thr414Ala Uncertain significance Single submitter
Inborn genetic diseases
TSPEAR p.Thr645Ile Uncertain significance Single submitter
TSPEAR p.Thr68Ile Uncertain significance Single submitter
Inborn genetic diseases
TSPEAR p.Trp356Arg Uncertain significance Single submitter
TSPEAR p.Trp479Gly Uncertain significance Single submitter
TSPEAR p.Tyr456Cys Uncertain significance Single submitter
TSPEAR p.Tyr618Asn Uncertain significance Single submitter
ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
TSPEAR p.Val200Ile Uncertain significance Single submitter
TSPEAR p.Val239Leu Uncertain significance Single submitter
TSPEAR p.Val298Phe Uncertain significance Single submitter
Inborn genetic diseases
TSPEAR p.Val305Met Uncertain significance Single submitter
TSPEAR p.Val362Ile Uncertain significance Single submitter
TSPEAR p.Val388Met Uncertain significance Single submitter
hearing loss disorder
TSPEAR p.Val53Ile Uncertain significance Single submitter
TSPEAR p.Val602Ala Uncertain significance Single submitter
TSPEAR p.Val602Met Uncertain significance Single submitter
TSPEAR p.Val635Ile Uncertain significance Single submitter
Inborn genetic diseases

Predictors split 50

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

TSPEAR p.Arg134Cys Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Arg148Cys Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Arg665Trp Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Asp478Asn Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Glu624Lys Uncertain significance Multiple submitters
TSPEAR p.Gly139Ser Benign/Likely benign Multiple submitters
TSPEAR p.Gly381Arg Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Gly636Ser Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.His443Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Leu152Met Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Phe413Leu Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Pro150Leu Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR p.Pro178Leu Uncertain significance Multiple submitters
autosomal recessive nonsyndromic hearing loss 98
TSPEAR p.Ser453Asn Uncertain significance Multiple submitters
TSPEAR p.Ser585Arg Uncertain significance Multiple submitters
TSPEAR p.Thr108Met Uncertain significance Multiple submitters
Inborn genetic diseases
TSPEAR c.303+9578G>A Benign Single submitter
TSPEAR c.303+9641C>A Likely benign Single submitter
autosomal recessive nonsyndromic hearing loss 98
TSPEAR c.304-5753G>T Benign Single submitter
ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
TSPEAR c.82+44599G>A Likely benign Single submitter
TSPEAR p.Ala389Thr Uncertain significance Single submitter
Inborn genetic diseases
TSPEAR p.Ala628Thr Uncertain significance Single submitter
autosomal recessive nonsyndromic hearing loss 98
TSPEAR p.Arg122Trp Conflicting Single submitter
autosomal recessive nonsyndromic hearing loss 98
TSPEAR p.Arg156Cys Uncertain significance Single submitter
TSPEAR p.Arg347Cys Uncertain significance Single submitter
TSPEAR p.Arg347Ser Conflicting Single submitter
Inborn genetic diseases
TSPEAR p.Arg425Gln Uncertain significance Single submitter
TSPEAR p.Arg444Gln Conflicting Single submitter
ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
TSPEAR p.Arg609Cys Uncertain significance Single submitter
TSPEAR p.Arg638Gly Uncertain significance Single submitter
TSPEAR p.Arg669Cys Uncertain significance Single submitter
TSPEAR p.Asn497Lys Likely pathogenic Single submitter
TSPEAR p.Asp154Gly Uncertain significance Single submitter
Inborn genetic diseases
TSPEAR p.Asp639Asn Conflicting Single submitter
tooth agenesis, selective, 10
TSPEAR p.Cys26Ser Uncertain significance Single submitter
Inborn genetic diseases
TSPEAR p.Gln319Glu Uncertain significance Single submitter
Inborn genetic diseases
TSPEAR p.Gly397Ser Uncertain significance Single submitter
TSPEAR p.Gly475Ser Conflicting Single submitter
TSPEAR-related disorder
TSPEAR p.His449Arg Uncertain significance Single submitter
Inborn genetic diseases
TSPEAR p.Leu13Gln Uncertain significance Single submitter
Inborn genetic diseases
TSPEAR p.Lys457Thr Uncertain significance Single submitter
TSPEAR p.Phe132Leu Uncertain significance Single submitter
TSPEAR p.Phe198Leu Uncertain significance Single submitter
TSPEAR p.Ser593Leu Conflicting Single submitter
Inborn genetic diseases
TSPEAR p.Ser612Pro Uncertain significance Single submitter
Inborn genetic diseases
TSPEAR p.Thr501Ile Uncertain significance Single submitter
TSPEAR p.Trp458Arg Uncertain significance Single submitter
TSPEAR p.Trp458Leu Uncertain significance Single submitter
Inborn genetic diseases
TSPEAR p.Val269Glu Uncertain significance Single submitter
TSPEAR p.Val315Met Conflicting Single submitter

All TSPEAR variants

Pathogenic 36

p.Arg144Ter Multiple submitters tooth agenesis, selective, 10
p.Gln365Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 98
p.Gly498fs Multiple submitters
p.His18fs Multiple submitters ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
p.Met1Thr Multiple submitters tooth agenesis, selective, 10
p.Ser488Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 98
p.Ser505Ter Multiple submitters ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
p.Trp427Ter Multiple submitters TSPEAR-related disorder
c.1334_1336+45del Single submitter
c.1336+1G>A Single submitter
c.543-1G>A Single submitter
p.Ala476fs Single submitter
p.Arg425Ter Single submitter Inborn genetic diseases
p.Asp154fs Single submitter
p.Asp33Ala Single submitter
p.Asp607fs Single submitter
p.Gln127Ter Single submitter
p.Gln60Ter Single submitter
p.Glu480fs Single submitter tooth agenesis, selective, 10
p.Gly595Ter Single submitter
p.His54fs Single submitter
p.Ile181fs Single submitter
p.Leu93fs Single submitter
p.Lys355fs Single submitter
p.Phe413fs Single submitter tooth agenesis, selective, 10
p.Phe481fs Single submitter
p.Ser401fs Single submitter
p.Trp375Ter Single submitter
p.Trp406Ter Single submitter
p.Trp589Ter Single submitter
p.Trp620Ter Single submitter
p.Tyr416fs Single submitter
p.Tyr598Ter Single submitter tooth agenesis, selective, 10
p.Gly17fs No assertion criteria ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
p.Gly475Arg No assertion criteria ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
p.Thr634fs No assertion criteria tooth agenesis, selective, 10

Pathogenic/Likely pathogenic 12

c.1336+2T>A Multiple submitters TSPEAR-related disorder
c.1856+2T>C Multiple submitters
c.82+2_82+10del Multiple submitters
p.Arg197Ter Multiple submitters TSPEAR-related disorder
p.Arg619fs Multiple submitters
p.Arg67fs Multiple submitters
p.Gln79Ter Multiple submitters ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
p.Glu596del Multiple submitters TSPEAR-related disorder
p.Leu13fs Multiple submitters TSPEAR-related disorder
p.Leu191fs Multiple submitters TSPEAR-related disorder
p.Pro393fs Multiple submitters TSPEAR-related disorder
p.Tyr263Ter Multiple submitters TSPEAR-related disorder

Likely pathogenic 14

c.1337-2A>G Multiple submitters Inborn genetic diseases
c.1857-2219G>A Single submitter ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
c.304-1G>C Single submitter
c.633+2C>A Single submitter
c.83-3C>G Single submitter TSPEAR-related disorder
p.Asn497Lys Single submitter ⚠
p.Gln417His Single submitter ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
p.Gln621Ter Single submitter tooth agenesis, selective, 10
p.Glu326fs Single submitter
p.Ile419fs Single submitter TSPEAR-related disorder
p.Lys502fs Single submitter tooth agenesis, selective, 10
p.Ser483fs Single submitter ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
p.Tyr314Ter Single submitter
p.Leu152fs No assertion criteria TSPEAR-related disorder

Conflicting classifications of pathogenicity 43

c.1566+5G>A Single submitter
c.1856+19C>T Single submitter autosomal recessive nonsyndromic hearing loss 98
c.791-14G>C Single submitter
p.Ala140Asp Single submitter Inborn genetic diseases ⚠
p.Ala140Thr Single submitter ⚠
p.Ala14Val Single submitter Inborn genetic diseases ⚠
p.Ala387Glu Single submitter ⚠
p.Ala56Val Single submitter Inborn genetic diseases ⚠
p.Arg122Gln Single submitter Inborn genetic diseases ⚠
p.Arg122Trp Single submitter autosomal recessive nonsyndromic hearing loss 98 ⚠
p.Arg144Gln Single submitter Inborn genetic diseases ⚠
p.Arg268Ter Single submitter TSPEAR-related disorder
p.Arg291Gln Single submitter ⚠
p.Arg347Ser Single submitter Inborn genetic diseases ⚠
p.Arg444Gln Single submitter ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis ⚠
p.Arg444Trp Single submitter tooth agenesis, selective, 10 ⚠
p.Arg510Ter Single submitter Autosomal recessive TSPEAR-related disorders
p.Arg57Gln Single submitter Inborn genetic diseases ⚠
p.Arg57Trp Single submitter ⚠
p.Asp115Asn Single submitter ⚠
p.Asp639Asn Single submitter tooth agenesis, selective, 10 ⚠
p.Cys637Tyr Single submitter ⚠
p.Gln21Arg Single submitter Inborn genetic diseases ⚠
p.Glu113Lys Single submitter Inborn genetic diseases ⚠
p.Glu624Ter Single submitter autosomal recessive nonsyndromic hearing loss 98
p.Gly475Ser Single submitter TSPEAR-related disorder ⚠
p.Gly498Val Single submitter autosomal recessive nonsyndromic hearing loss 98
p.Ile34= Single submitter
p.Leu119Phe Single submitter Inborn genetic diseases ⚠
p.Leu490Gln Single submitter autosomal recessive nonsyndromic hearing loss 98 ⚠
p.Leu660Arg Single submitter Inborn genetic diseases ⚠
p.Phe626Ser Single submitter ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis ⚠
p.Ser223Leu Single submitter ⚠
p.Ser505Leu Single submitter Inborn genetic diseases ⚠
p.Ser593Leu Single submitter Inborn genetic diseases ⚠
p.Thr270Met Single submitter Inborn genetic diseases ⚠
p.Trp640Arg Single submitter Inborn genetic diseases ⚠
p.Tyr416Ser Single submitter Inborn genetic diseases ⚠
p.Tyr566Cys Single submitter Inborn genetic diseases
p.Val305= Single submitter
p.Val315Met Single submitter ⚠
p.Val353Ile Single submitter Inborn genetic diseases ⚠
p.Val51Ile Single submitter ⚠

Benign 42

c.1149+141A>G Multiple submitters
c.1149+64G>A Multiple submitters
c.1336+25C>T Multiple submitters
c.1337-112C>T Multiple submitters
c.1337-116T>C Multiple submitters
c.1337-120C>T Multiple submitters
c.303+31A>C Multiple submitters
c.543-102A>G Multiple submitters
c.543-45T>C Multiple submitters
c.543-70T>C Multiple submitters
c.790+142T>C Multiple submitters
c.790+40T>C Multiple submitters
c.791-163G>A Multiple submitters
c.791-57G>A Multiple submitters
c.922+54G>A Multiple submitters
c.923-66C>T Multiple submitters
p.Asp184= Multiple submitters
p.Gly17= Multiple submitters
p.Gly19= Multiple submitters
p.Pro178= Multiple submitters
c.1149+218G>A Single submitter
c.1337-245A>G Single submitter
c.1856+317C>A Single submitter
c.303+9076A>G Single submitter ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
c.303+9165C>T Single submitter
c.303+9169A>C Single submitter
c.303+9180C>T Single submitter
c.303+9578G>A Single submitter ⚠
c.304-5751T>A Single submitter ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
c.304-5753G>T Single submitter ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis ⚠
c.542+280C>T Single submitter
c.633+118T>C Single submitter
c.633+124G>A Single submitter
c.633+140C>T Single submitter
c.633+163T>C Single submitter
c.634-162A>G Single submitter
c.634-234dup Single submitter
c.790+13dup Single submitter
c.83-32801T>C Single submitter
c.922+264T>C Single submitter
c.922+281C>T Single submitter
c.923-283A>G Single submitter

Benign/Likely benign 19

c.1150-20C>T Multiple submitters
c.1566+12C>T Multiple submitters
c.1566+12dup Multiple submitters
c.1755-7C>T Multiple submitters
c.304-12C>T Multiple submitters
c.542+14C>T Multiple submitters
c.923-17A>G Multiple submitters
p.Ala15Val Multiple submitters autosomal recessive nonsyndromic hearing loss 98
p.Ala238= Multiple submitters
p.Asn234= Multiple submitters
p.Asn300= Multiple submitters
p.Glu24= Multiple submitters
p.Gly139Ser Multiple submitters ⚠
p.His408Gln Multiple submitters
p.Ile451= Multiple submitters
p.Leu116= Multiple submitters
p.Leu119= Multiple submitters
p.Ser593= Multiple submitters
p.Thr137= Multiple submitters

Likely benign 159

c.1150-19C>T Multiple submitters
c.1150-26C>G Multiple submitters
c.1336+34A>C Multiple submitters
c.1336+77G>C Multiple submitters
c.1337-31C>T Multiple submitters
c.1337-65C>T Multiple submitters
c.1337-7G>C Multiple submitters
c.1754+7G>A Multiple submitters
c.1857-5C>T Multiple submitters
c.542+15G>A Multiple submitters
c.634-25G>C Multiple submitters
c.634-32C>T Multiple submitters
c.634-7T>C Multiple submitters
c.790+19C>T Multiple submitters
c.790+20G>A Multiple submitters
c.791-64C>G Multiple submitters
c.82+173G>A Multiple submitters
c.82+30G>A Multiple submitters
c.82+52G>C Multiple submitters
c.83-32773G>A Multiple submitters
c.922+20G>A Multiple submitters
p.Ala64= Multiple submitters
p.Ala65Thr Multiple submitters
p.Arg244Gln Multiple submitters
p.Arg463Trp Multiple submitters
p.Asn256= Multiple submitters
p.Cys175= Multiple submitters
p.Ile89= Multiple submitters
p.Phe198= Multiple submitters
p.Phe361= Multiple submitters
p.Phe626= Multiple submitters
p.Pro150= Multiple submitters Inborn genetic diseases
p.Ser46= Multiple submitters
p.Ser474= Multiple submitters
p.Ser500= Multiple submitters
p.Ser505= Multiple submitters ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
p.Thr250= Multiple submitters
p.Thr369= Multiple submitters
p.Thr646= Multiple submitters
p.Tyr314= Multiple submitters
p.Tyr508= Multiple submitters
c.1149+14C>T Single submitter
c.1149+15G>A Single submitter
c.1149+217C>T Single submitter
c.1150-140G>A Single submitter
c.1150-18C>T Single submitter
c.1336+190C>T Single submitter
c.1336+9G>T Single submitter
c.1337-13C>T Single submitter
c.1337-160G>A Single submitter
c.1337-16A>G Single submitter
c.1337-19C>T Single submitter
c.1337-330C>A Single submitter
c.1566+10C>T Single submitter
c.1566+23C>T Single submitter
c.1755-322G>A Single submitter
c.1755-325C>T Single submitter
c.1755-65G>A Single submitter
c.1856+13C>T Single submitter
c.1856+20G>A Single submitter
c.1856+35C>A Single submitter
c.1857-125G>A Single submitter
c.303+90G>A Single submitter
c.303+9641C>A Single submitter autosomal recessive nonsyndromic hearing loss 98 ⚠
c.304-47C>T Single submitter
c.304-6166C>A Single submitter
c.542+20G>C Single submitter
c.542+38C>G Single submitter
c.634-10C>G Single submitter
c.634-15T>C Single submitter
c.634-15T>G Single submitter
c.634-16G>T Single submitter
c.634-17T>C Single submitter
c.791-11C>G Single submitter
c.791-20C>A Single submitter
c.82+13552C>T Single submitter
c.82+198A>G Single submitter
c.82+231C>T Single submitter
c.82+23C>T Single submitter
c.82+44599G>A Single submitter ⚠
c.83-323G>A Single submitter
c.83-33680G>C Single submitter
c.922+17C>A Single submitter
c.922+19C>T Single submitter
c.922+20G>C Single submitter
c.923-20_923-15dup Single submitter
c.923-6C>T Single submitter
c.*14C>T Single submitter
c.*4C>T Single submitter
c.*50C>A Single submitter
c.*5G>A Single submitter
p.Ala111= Single submitter
p.Ala138= Single submitter
p.Ala14= Single submitter
p.Ala151= Single submitter
p.Ala345= Single submitter
p.Ala349= Single submitter
p.Ala352= Single submitter
p.Ala36= Single submitter
p.Ala439= Single submitter
p.Ala628= Single submitter
p.Ala656Thr Single submitter
p.Arg102= Single submitter
p.Arg134= Single submitter
p.Arg156= Single submitter
p.Arg30= Single submitter
p.Arg334= Single submitter
p.Arg49= Single submitter
p.Arg665= Single submitter
p.Asn103= Single submitter
p.Asn366= Single submitter
p.Asn497= Single submitter
p.Asp224= Single submitter
p.Glu590= Single submitter
p.Gly139= Single submitter
p.Gly17Ser Single submitter Inborn genetic diseases
p.Gly43= Single submitter
p.Gly446= Single submitter
p.Gly475= Single submitter
p.Gly498= Single submitter
p.His18Arg Single submitter Inborn genetic diseases
p.Ile335= Single submitter
p.Ile380= Single submitter
p.Ile471= Single submitter
p.Leu118= Single submitter
p.Leu237= Single submitter
p.Leu328= Single submitter
p.Leu490= Single submitter
p.Leu511= Single submitter
p.Lys252= Single submitter
p.Phe199= Single submitter
p.Phe437= Single submitter
p.Phe606= Single submitter
p.Pro276= Single submitter
p.Pro460= Single submitter
p.Pro522Leu Single submitter Inborn genetic diseases
p.Ser114= Single submitter
p.Ser192= Single submitter
p.Ser304= Single submitter
p.Ser401= Single submitter
p.Ser423= Single submitter
p.Ser488= Single submitter
p.Ser612= Single submitter
p.Ser655= Single submitter
p.Thr172= Single submitter
p.Thr173= Single submitter
p.Thr20= Single submitter
p.Thr350= Single submitter
p.Tyr261= Single submitter
p.Tyr487= Single submitter
p.Tyr623= Single submitter
p.Val164= Single submitter
p.Val168= Single submitter
p.Val200= Single submitter
p.Val258= Single submitter
p.Val635= Single submitter
p.Val91Ile Single submitter
p.Asp115= No assertion criteria TSPEAR-related disorder
p.Val353= No assertion criteria TSPEAR-related disorder

Uncertain significance 216

c.633+2C>T Multiple submitters TSPEAR-related disorder
p.Ala166Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala225Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala352Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala424Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala439Glu Multiple submitters Inborn genetic diseases ⚠
p.Ala44Val Multiple submitters Inborn genetic diseases ⚠
p.Ala472Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala628Val Multiple submitters Inborn genetic diseases ⚠
p.Ala642Gly Multiple submitters ⚠
p.Arg134Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg134Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg148Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg156His Multiple submitters ⚠
p.Arg203Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg204Met Multiple submitters Inborn genetic diseases ⚠
p.Arg244Trp Multiple submitters ⚠
p.Arg30Cys Multiple submitters ⚠
p.Arg334His Multiple submitters Inborn genetic diseases ⚠
p.Arg665Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg669His Multiple submitters Inborn genetic diseases ⚠
p.Asn390Asp Multiple submitters Inborn genetic diseases ⚠
p.Asp174His Multiple submitters Inborn genetic diseases ⚠
p.Asp180Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp180Val Multiple submitters Inborn genetic diseases ⚠
p.Asp447Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp478Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp607Asn Multiple submitters Inborn genetic diseases ⚠
p.Glu358Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu395Asp Multiple submitters ⚠
p.Glu431Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu445= Multiple submitters
p.Glu466Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu596Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu596Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu624Lys Multiple submitters ⚠
p.Glu658Lys Multiple submitters Inborn genetic diseases ⚠
p.Gly120Ser Multiple submitters ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
p.Gly195Arg Multiple submitters ⚠
p.Gly195Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly201Ser Multiple submitters Inborn genetic diseases
p.Gly212Glu Multiple submitters ⚠
p.Gly293Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly381Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly446Cys Multiple submitters ⚠
p.Gly636Ser Multiple submitters Inborn genetic diseases ⚠
p.His370Arg Multiple submitters Inborn genetic diseases ⚠
p.His370Gln Multiple submitters ⚠
p.His443Tyr Multiple submitters Inborn genetic diseases ⚠
p.Leu121Pro Multiple submitters ⚠
p.Leu152Met Multiple submitters Inborn genetic diseases ⚠
p.Leu271Arg Multiple submitters Inborn genetic diseases ⚠
p.Leu340Pro Multiple submitters Inborn genetic diseases
p.Lys194Asn Multiple submitters Inborn genetic diseases ⚠
p.Phe199Val Multiple submitters Inborn genetic diseases ⚠
p.Phe413Leu Multiple submitters Inborn genetic diseases ⚠
p.Phe532Ile Multiple submitters Inborn genetic diseases ⚠
p.Pro150Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro178Leu Multiple submitters autosomal recessive nonsyndromic hearing loss 98 ⚠
p.Pro188Ser Multiple submitters Inborn genetic diseases
p.Pro25His Multiple submitters Inborn genetic diseases ⚠
p.Pro460Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro522= Multiple submitters
p.Ser453Asn Multiple submitters ⚠
p.Ser585Arg Multiple submitters ⚠
p.Thr108Met Multiple submitters Inborn genetic diseases ⚠
p.Thr173Met Multiple submitters ⚠
p.Thr462Ser Multiple submitters Inborn genetic diseases ⚠
p.Thr646Lys Multiple submitters ⚠
p.Thr646Met Multiple submitters Inborn genetic diseases ⚠
p.Trp458Gly Multiple submitters ⚠
p.Val239Met Multiple submitters Inborn genetic diseases ⚠
p.Val298Ala Multiple submitters Inborn genetic diseases ⚠
p.Val564Ile Multiple submitters Inborn genetic diseases ⚠
p.Val627Met Multiple submitters Inborn genetic diseases ⚠
p.Val90Ala Multiple submitters Inborn genetic diseases ⚠
p.Val90Ile Multiple submitters ⚠
c.1149+3A>C Single submitter
c.1149+5G>A Single submitter
c.1150-21_1150-4del Single submitter
c.1336+5G>A Single submitter ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
c.304-5450G>T Single submitter autosomal recessive nonsyndromic hearing loss 98 ⚠
c.633+3G>A Single submitter
c.790+5G>A Single submitter ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
c.790+5G>C Single submitter
c.923-220_1336+274del Single submitter ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
c.-6C>T Single submitter
p.Ala235Gly Single submitter ⚠
p.Ala235Ser Single submitter Inborn genetic diseases ⚠
p.Ala283Thr Single submitter Inborn genetic diseases ⚠
p.Ala308Thr Single submitter ⚠
p.Ala345Pro Single submitter ⚠
p.Ala36Glu Single submitter ⚠
p.Ala36Val Single submitter Inborn genetic diseases ⚠
p.Ala372Thr Single submitter Inborn genetic diseases ⚠
p.Ala389Thr Single submitter Inborn genetic diseases ⚠
p.Ala424Val Single submitter ⚠
p.Ala441Pro Single submitter TSPEAR-related disorder ⚠
p.Ala44Gly Single submitter ⚠
p.Ala493Val Single submitter ⚠
p.Ala628Thr Single submitter autosomal recessive nonsyndromic hearing loss 98 ⚠
p.Ala642Val Single submitter Inborn genetic diseases ⚠
p.Ala65Asp Single submitter Inborn genetic diseases ⚠
p.Arg156Cys Single submitter ⚠
p.Arg203Trp Single submitter ⚠
p.Arg244Gly Single submitter Inborn genetic diseases ⚠
p.Arg291Trp Single submitter Inborn genetic diseases ⚠
p.Arg347Cys Single submitter ⚠
p.Arg347His Single submitter Inborn genetic diseases ⚠
p.Arg425Gln Single submitter ⚠
p.Arg510Gln Single submitter ⚠
p.Arg609Cys Single submitter ⚠
p.Arg638Gly Single submitter ⚠
p.Arg665Gln Single submitter ⚠
p.Arg669Cys Single submitter ⚠
p.Arg67Gly Single submitter Inborn genetic diseases ⚠
p.Asp154Gly Single submitter Inborn genetic diseases ⚠
p.Asp154His Single submitter ⚠
p.Asp184Asn Single submitter ⚠
p.Asp184Tyr Single submitter Inborn genetic diseases ⚠
p.Asp255Gly Single submitter ⚠
p.Asp607Gly Single submitter Inborn genetic diseases
p.Cys26Ser Single submitter Inborn genetic diseases ⚠
p.Gln21Leu Single submitter Inborn genetic diseases ⚠
p.Gln319Glu Single submitter Inborn genetic diseases ⚠
p.Gln519Leu Single submitter ⚠
p.Gln79His Single submitter Inborn genetic diseases ⚠
p.Gln79Pro Single submitter Inborn genetic diseases ⚠
p.Glu281Lys Single submitter ⚠
p.Glu301Lys Single submitter Inborn genetic diseases ⚠
p.Glu317Gly Single submitter ⚠
p.Glu392Gln Single submitter Inborn genetic diseases ⚠
p.Gly167Ser Single submitter Inborn genetic diseases ⚠
p.Gly176Ser Single submitter Inborn genetic diseases ⚠
p.Gly19Arg Single submitter ⚠
p.Gly397Ser Single submitter ⚠
p.Gly434Arg Single submitter Inborn genetic diseases ⚠
p.Gly47Glu Single submitter ⚠
p.Gly498Asp Single submitter ⚠
p.Gly498Ser Single submitter
p.Gly55Ser Single submitter Inborn genetic diseases ⚠
p.Gly608Arg Single submitter ⚠
p.Gly622Ser Single submitter ⚠
p.His449Arg Single submitter Inborn genetic diseases ⚠
p.His504Pro Single submitter ⚠
p.Ile267Val Single submitter ⚠
p.Ile384fs Single submitter
p.Ile384Thr Single submitter Inborn genetic diseases ⚠
p.Ile419Thr Single submitter ⚠
p.Ile451_Asp452del Single submitter
p.Ile455Met Single submitter ⚠
p.Ile89Val Single submitter Inborn genetic diseases ⚠
p.Leu13Gln Single submitter Inborn genetic diseases ⚠
p.Leu220Arg Single submitter Inborn genetic diseases
p.Leu229Pro Single submitter ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis ⚠
p.Leu312= Single submitter
p.Leu507Phe Single submitter ⚠
p.Leu517Phe Single submitter ⚠
p.Leu666_Ter670del Single submitter
p.Lys360Arg Single submitter ⚠
p.Lys457Glu Single submitter
p.Lys457Thr Single submitter ⚠
p.Met211Val Single submitter ⚠
p.Met69Val Single submitter Inborn genetic diseases ⚠
p.Phe132Leu Single submitter ⚠
p.Phe198Leu Single submitter ⚠
p.Phe361Ser Single submitter Inborn genetic diseases ⚠
p.Phe361Tyr Single submitter Inborn genetic diseases ⚠
p.Phe378Cys Single submitter ⚠
p.Phe430Ser Single submitter Inborn genetic diseases ⚠
p.Phe489Ser Single submitter ⚠
p.Pro221Leu Single submitter
p.Pro236Ser Single submitter ⚠
p.Pro276Leu Single submitter ⚠
p.Pro31Ser Single submitter
p.Pro40Leu Single submitter ⚠
p.Pro659Ser Single submitter ⚠
p.Pro66Ala Single submitter ⚠
p.Pro72Ala Single submitter ⚠
p.Pro84Ser Single submitter ⚠
p.Ser483Ile Single submitter ⚠
p.Ser612Pro Single submitter Inborn genetic diseases ⚠
p.Ser631Arg Single submitter Inborn genetic diseases ⚠
p.Ser654Pro Single submitter Inborn genetic diseases ⚠
p.Ser661fs Single submitter
p.Ser70Asn Single submitter Inborn genetic diseases ⚠
p.Thr20Pro Single submitter
p.Thr265Ile Single submitter ⚠
p.Thr27= Single submitter
p.Thr27Arg Single submitter ⚠
p.Thr369Met Single submitter ⚠
p.Thr414Ala Single submitter Inborn genetic diseases ⚠
p.Thr501Ile Single submitter ⚠
p.Thr645Ile Single submitter ⚠
p.Thr68Ile Single submitter Inborn genetic diseases ⚠
p.Trp356Arg Single submitter ⚠
p.Trp458Arg Single submitter ⚠
p.Trp458Leu Single submitter Inborn genetic diseases ⚠
p.Trp458Ter Single submitter
p.Trp479Gly Single submitter ⚠
p.Trp640Ter Single submitter
p.Tyr261Cys Single submitter Inborn genetic diseases
p.Tyr456Cys Single submitter ⚠
p.Tyr618Asn Single submitter ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis ⚠
p.Val164Met Single submitter ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
p.Val200Ile Single submitter ⚠
p.Val239Leu Single submitter ⚠
p.Val269Glu Single submitter ⚠
p.Val298Phe Single submitter Inborn genetic diseases ⚠
p.Val305Met Single submitter ⚠
p.Val362Ile Single submitter ⚠
p.Val388Met Single submitter hearing loss disorder ⚠
p.Val53Ile Single submitter ⚠
p.Val602Ala Single submitter ⚠
p.Val602Met Single submitter ⚠
p.Val635Ile Single submitter Inborn genetic diseases ⚠