TCF12 — 575 ClinVar variants
All ClinVar germline TCF12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 221 flagged for review →
81 Pathogenic · 8 Pathogenic/Likely pathogenic · 45 Likely pathogenic · 12 Conflicting · 47 Benign · 7 Benign/Likely benign · 102 Likely benign · 273 Uncertain significance
Full TCF12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 221
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 10
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
TCF12 p.Ala482Thr
Conflicting
Single submitter
Inborn genetic diseases
-
TCF12 p.Arg603Gln
Conflicting
Single submitter
TCF12-related disorder
-
TCF12 p.Arg603Trp
Conflicting
Single submitter
hypogonadotropic hypogonadism 26 with or without anosmia
-
TCF12 p.Arg613His
Conflicting
Single submitter
Inborn genetic diseases
- TCF12 p.Asn317Ser Conflicting Single submitter
-
TCF12 p.Asn472Ser
Conflicting
Single submitter
Inborn genetic diseases
-
TCF12 p.Cys628Arg
Conflicting
Single submitter
TCF12-related craniosynostosis
- TCF12 p.Ile651Phe Conflicting Single submitter
- TCF12 p.Leu624Phe Conflicting Single submitter
- TCF12 p.Met489Val Conflicting Single submitter
Predicted LoF vs a conflicting call 1
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
-
TCF12 c.526+1G>A
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 181
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 181
-
TCF12 p.Ala173Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TCF12 p.Arg611Cys Uncertain significance Multiple submitters
-
TCF12 p.Arg613Cys
Uncertain significance
Multiple submitters
TCF12-related craniosynostosis
-
TCF12 p.Asp123Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TCF12 p.Gln4Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TCF12 p.Gln533Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TCF12 p.Met294Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TCF12 p.Pro152Ser Uncertain significance Multiple submitters
-
TCF12 p.Pro690Ser
Uncertain significance
Multiple submitters
TCF12-related craniosynostosis
-
TCF12 p.Ser160Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TCF12 p.Thr36Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TCF12 p.Ala144Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF12 p.Ala310Pro Uncertain significance Single submitter
-
TCF12 p.Ala330Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF12 p.Ala466Val Uncertain significance Single submitter
-
TCF12 p.Arg114Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TCF12 p.Arg206His
Uncertain significance
Single submitter
Inborn genetic diseases
-
TCF12 p.Arg274His
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF12 p.Arg430Thr Uncertain significance Single submitter
- TCF12 p.Arg439Trp Uncertain significance Single submitter
-
TCF12 p.Arg494Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF12 p.Arg494Gly Uncertain significance Single submitter
-
TCF12 p.Arg527Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TCF12 p.Arg527Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TCF12 p.Arg578Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF12 p.Arg611Leu Uncertain significance Single submitter
- TCF12 p.Arg613Leu Uncertain significance Single submitter
- TCF12 p.Arg615Trp Uncertain significance Single submitter
- TCF12 p.Arg661Ser Uncertain significance Single submitter
- TCF12 p.Arg661Thr Uncertain significance Single submitter
-
TCF12 p.Arg90Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TCF12 p.Asn106His
Uncertain significance
Single submitter
TCF12-related craniosynostosis
- TCF12 p.Asn106Ser Uncertain significance Single submitter
- TCF12 p.Asn205Ser Uncertain significance Single submitter
-
TCF12 p.Asn233Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF12 p.Asn242Ser Uncertain significance Single submitter
-
TCF12 p.Asn328Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TCF12 p.Asn501Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF12 p.Asn503Ser Uncertain significance Single submitter
- TCF12 p.Asn525Tyr Uncertain significance Single submitter
-
TCF12 p.Asn546Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TCF12 p.Asn606Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF12 p.Asn607Asp Uncertain significance Single submitter
-
TCF12 p.Asn607Lys
Uncertain significance
Single submitter
TCF12-related craniosynostosis
-
TCF12 p.Asn607Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF12 p.Asp137Glu Uncertain significance Single submitter
- TCF12 p.Asp426Val Uncertain significance Single submitter
-
TCF12 p.Asp432Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF12 p.Asp433Tyr Uncertain significance Single submitter
- TCF12 p.Asp517His Uncertain significance Single submitter
-
TCF12 p.Asp587Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF12 p.Asp78Gly Uncertain significance Single submitter
- TCF12 p.Asp88Ala Uncertain significance Single submitter
- TCF12 p.Cys628Tyr Uncertain significance Single submitter
-
TCF12 p.Cys669Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TCF12 p.Gln130Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF12 p.Gln629Glu Uncertain significance Single submitter
- TCF12 p.Glu425Gly Uncertain significance Single submitter
- TCF12 p.Glu599Gln Uncertain significance Single submitter
-
TCF12 p.Glu635Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF12 p.Glu675Ala Uncertain significance Single submitter
- TCF12 p.Glu676Gly Uncertain significance Single submitter
- TCF12 p.Gly125Arg Uncertain significance Single submitter
-
TCF12 p.Gly128Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF12 p.Gly139Arg Uncertain significance Single submitter
-
TCF12 p.Gly141Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF12 p.Gly153Glu Uncertain significance Single submitter
- TCF12 p.Gly372Ser Uncertain significance Single submitter
- TCF12 p.Gly380Val Uncertain significance Single submitter
- TCF12 p.Gly48Glu Uncertain significance Single submitter
- TCF12 p.Gly528Ser Uncertain significance Single submitter
-
TCF12 p.Gly529Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
TCF12 p.Gly55Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF12 p.Gly625Val Uncertain significance Single submitter
-
TCF12 p.Gly695Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TCF12 p.His232Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF12 p.His453Tyr Uncertain significance Single submitter
- TCF12 p.His520Asp Uncertain significance Single submitter
- TCF12 p.His645Arg Uncertain significance Single submitter
- TCF12 p.His645Pro Uncertain significance Single submitter
- TCF12 p.His81Asp Uncertain significance Single submitter
- TCF12 p.His85Asp Uncertain significance Single submitter
- TCF12 p.His85Pro Uncertain significance Single submitter
-
TCF12 p.Ile287Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TCF12 p.Ile435Val
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF12 p.Ile573Thr Uncertain significance Single submitter
- TCF12 p.Ile617Ser Uncertain significance Single submitter
- TCF12 p.Ile643Asn Uncertain significance Single submitter
- TCF12 p.Ile643Phe Uncertain significance Single submitter
-
TCF12 p.Ile651Ser
Uncertain significance
Single submitter
TCF12-related craniosynostosis
- TCF12 p.Leu107Pro Uncertain significance Single submitter
- TCF12 p.Leu119Pro Uncertain significance Single submitter
-
TCF12 p.Leu126Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF12 p.Leu133Pro Uncertain significance Single submitter
-
TCF12 p.Leu138Val
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF12 p.Leu140Pro Uncertain significance Single submitter
- TCF12 p.Leu169Phe Uncertain significance Single submitter
- TCF12 p.Leu339Pro Uncertain significance Single submitter
-
TCF12 p.Leu500Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
TCF12 p.Leu500Val
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF12 p.Leu530Phe Uncertain significance Single submitter
-
TCF12 p.Leu530Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF12 p.Leu632Phe Uncertain significance Single submitter
- TCF12 p.Leu642Pro Uncertain significance Single submitter
-
TCF12 p.Leu654Pro
Uncertain significance
Single submitter
TCF12-related disorder
- TCF12 p.Lys600Thr Uncertain significance Single submitter
-
TCF12 p.Met227Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
TCF12 p.Met424Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TCF12 p.Met703Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TCF12 p.Met8Val
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF12 p.Phe621Cys Uncertain significance Single submitter
- TCF12 p.Pro101Ser Uncertain significance Single submitter
- TCF12 p.Pro168Leu Uncertain significance Single submitter
- TCF12 p.Pro177Ala Uncertain significance Single submitter
- TCF12 p.Pro177Thr Uncertain significance Single submitter
- TCF12 p.Pro212Ala Uncertain significance Single submitter
- TCF12 p.Pro212Ser Uncertain significance Single submitter
-
TCF12 p.Pro247Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF12 p.Pro279Ser Uncertain significance Single submitter
- TCF12 p.Pro284Ser Uncertain significance Single submitter
-
TCF12 p.Pro314Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF12 p.Pro377Thr Uncertain significance Single submitter
-
TCF12 p.Pro379His
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF12 p.Pro38Ser Uncertain significance Single submitter
- TCF12 p.Pro445Thr Uncertain significance Single submitter
-
TCF12 p.Pro556Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TCF12 p.Pro592Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF12 p.Pro686Leu Uncertain significance Single submitter
- TCF12 p.Pro68Leu Uncertain significance Single submitter
-
TCF12 p.Pro99Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
TCF12 p.Pro99Leu
Uncertain significance
Single submitter
TCF12-related disorder
- TCF12 p.Ser121Gly Uncertain significance Single submitter
-
TCF12 p.Ser131Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF12 p.Ser223Asn Uncertain significance Single submitter
- TCF12 p.Ser239Gly Uncertain significance Single submitter
- TCF12 p.Ser245Thr Uncertain significance Single submitter
-
TCF12 p.Ser303Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF12 p.Ser304Gly Uncertain significance Single submitter
-
TCF12 p.Ser321Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF12 p.Ser355Thr Uncertain significance Single submitter
- TCF12 p.Ser388Gly Uncertain significance Single submitter
- TCF12 p.Ser388Ile Uncertain significance Single submitter
- TCF12 p.Ser43Asn Uncertain significance Single submitter
- TCF12 p.Ser448Arg Uncertain significance Single submitter
- TCF12 p.Ser448Asn Uncertain significance Single submitter
-
TCF12 p.Ser44Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF12 p.Ser454Asn Uncertain significance Single submitter
-
TCF12 p.Ser486Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF12 p.Ser486Pro Uncertain significance Single submitter
- TCF12 p.Ser508Tyr Uncertain significance Single submitter
Predictors split 29
The independent predictors disagree with each other — read with care.
- TCF12 p.Ala434Val Uncertain significance Single submitter
- TCF12 p.Arg166Gly Uncertain significance Single submitter
- TCF12 p.Arg206Leu Uncertain significance Single submitter
-
TCF12 p.Arg274Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF12 p.Arg7Cys Uncertain significance Single submitter
- TCF12 p.Asn662Lys Uncertain significance Single submitter
- TCF12 p.Asp123His Uncertain significance Single submitter
- TCF12 p.Asp236Tyr Uncertain significance Single submitter
- TCF12 p.Asp429Glu Uncertain significance Single submitter
- TCF12 p.Asp455Val Uncertain significance Single submitter
- TCF12 p.Glu390Lys Uncertain significance Single submitter
-
TCF12 p.Gly243Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF12 p.Gly248Arg Uncertain significance Single submitter
- TCF12 p.Gly318Glu Likely benign Single submitter
- TCF12 p.Gly365Glu Uncertain significance Single submitter
-
TCF12 p.Gly469Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TCF12 p.Leu21Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TCF12 p.Lys622Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF12 p.Met8Thr Uncertain significance Single submitter
-
TCF12 p.Phe204Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF12 p.Phe225Leu Uncertain significance Single submitter
- TCF12 p.Phe226Ser Uncertain significance Single submitter
- TCF12 p.Phe27Tyr Uncertain significance Single submitter
- TCF12 p.Pro367Ser Uncertain significance Single submitter
- TCF12 p.Ser422Pro Uncertain significance Single submitter
-
TCF12 p.Ser470Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- TCF12 p.Ser483Arg Uncertain significance Single submitter
- TCF12 p.Thr13Pro Uncertain significance Single submitter
-
TCF12 p.Tyr195Cys
Uncertain significance
Single submitter
Inborn genetic diseases
All TCF12 variants
Pathogenic 81
- p.Arg485Ter Multiple submitters hypogonadotropic hypogonadism 26 with or without anosmia
- p.Arg613fs Multiple submitters TCF12-related disorder
- p.Arg626Ter Multiple submitters TCF12-related disorder
- p.Ile456fs Multiple submitters TCF12-related craniosynostosis
- p.Ser241Ter Multiple submitters
- p.Ser263fs Multiple submitters TCF12-related craniosynostosis
- p.Ser281Ter Multiple submitters TCF12-related craniosynostosis
- p.Ser358Ter Multiple submitters TCF12-related disorder
- p.Ser514Ter Multiple submitters TCF12-related craniosynostosis
- c.1035+3_1035+6del Single submitter
- c.1036-1_1040del Single submitter
- c.1261-3C>G Single submitter TCF12-related craniosynostosis
- c.1467+1G>A Single submitter Common craniosynostosis syndromes
- c.1467+1G>C Single submitter Common craniosynostosis syndromes
- c.1468-1G>A Single submitter TCF12-related craniosynostosis
- c.1979-2A>G Single submitter TCF12-related disorder
- c.579+5G>T Single submitter
- c.825+1G>A Single submitter
- p.Ala222fs Single submitter
- p.Arg602fs Single submitter
- p.Arg603fs Single submitter
- p.Asn606Ter Single submitter
- p.Asp236fs Single submitter
- p.Asp572fs Single submitter TCF12-related craniosynostosis
- p.Gln334fs Single submitter TCF12-related craniosynostosis
- p.Gln382fs Single submitter
- p.Gln533fs Single submitter
- p.Gln594Ter Single submitter
- p.Gln646Ter Single submitter
- p.Glu495fs Single submitter Inborn genetic diseases
- p.Glu548fs Single submitter craniosynostosis
- p.Glu588fs Single submitter
- p.Glu601Ter Single submitter
- p.Glu623Ter Single submitter
- p.Gly125fs Single submitter TCF12-related craniosynostosis
- p.Gly331Ter Single submitter
- p.His394fs Single submitter
- p.His436fs Single submitter Inborn genetic diseases
- p.Leu408_Gln409delinsPheTer Single submitter
- p.Leu408Ter Single submitter TCF12-related craniosynostosis
- p.Leu428fs Single submitter
- p.Leu449fs Single submitter
- p.Leu530Ter Single submitter
- p.Lys549Ter Single submitter
- p.Lys633fs Single submitter
- p.Lys636fs Single submitter TCF12-related craniosynostosis
- p.Met627fs Single submitter TCF12-related craniosynostosis
- p.Phe225fs Single submitter
- p.Phe226fs Single submitter
- p.Pro293fs Single submitter
- p.Pro462fs Single submitter
- p.Ser116Ter Single submitter TCF12-related craniosynostosis
- p.Ser198fs Single submitter
- p.Ser264fs Single submitter TCF12-related craniosynostosis
- p.Ser311Ter Single submitter
- p.Ser333Ter Single submitter
- p.Ser353fs Single submitter TCF12-related craniosynostosis
- p.Ser358fs Single submitter TCF12-related craniosynostosis
- p.Ser473Ter Single submitter
- p.Ser499fs Single submitter
- p.Ser505Ter Single submitter TCF12-related craniosynostosis
- p.Ser514fs Single submitter Inborn genetic diseases
- p.Ser568_Lys571delinsTer Single submitter
- p.Thr539fs Single submitter
- p.Trp376Ter Single submitter
- p.Tyr195fs Single submitter Inborn genetic diseases
- p.Tyr266Ter Single submitter hypogonadotropic hypogonadism 26 with or without anosmia
- p.Tyr307Ter Single submitter TCF12-related craniosynostosis
- p.Tyr347Ter Single submitter
- p.Tyr526Ter Single submitter
- p.Tyr70fs Single submitter TCF12-related craniosynostosis
- p.Val498fs Single submitter
- c.826-2A>G No assertion criteria TCF12-related craniosynostosis
- p.Asn200fs No assertion criteria HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA
- p.Gln638Glu No assertion criteria TCF12-related craniosynostosis
- p.Glu655Ter No assertion criteria TCF12-related craniosynostosis
- p.Gly153Trp No assertion criteria Developmental delay
- p.Lys549fs No assertion criteria TCF12-related craniosynostosis
- p.Met424fs No assertion criteria HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA
- p.Ser149fs No assertion criteria HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA
- p.Thr510fs No assertion criteria HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA
Pathogenic/Likely pathogenic 8
- c.1115-2A>G Multiple submitters TCF12-related disorder
- c.1188+1G>C Multiple submitters
- c.1188+1G>T Multiple submitters TCF12-related craniosynostosis
- p.Arg423Ter Multiple submitters Common craniosynostosis syndromes
- p.Arg90Ter Multiple submitters TCF12-related disorder
- p.Gln262Ter Multiple submitters TCF12-related craniosynostosis
- p.Ser271Ter Multiple submitters TCF12-related craniosynostosis
- p.Ser497fs Multiple submitters hypogonadotropic hypogonadism 26 with or without anosmia
Likely pathogenic 45
- c.1036-1G>T Multiple submitters TCF12-related disorder
- c.686-1G>A Multiple submitters TCF12-related disorder
- c.1035+3G>C Single submitter TCF12-related craniosynostosis
- c.1035+5G>A Single submitter TCF12-related craniosynostosis
- c.1115-1G>A Single submitter
- c.1189-2A>G Single submitter
- c.1582+2T>C Single submitter TCF12-related disorder
- c.1745+2T>C Single submitter TCF12-related disorder
- c.1746-8T>G Single submitter TCF12-related craniosynostosis
- c.1978+3_1978+10del Single submitter
- c.222+1G>A Single submitter hypogonadotropic hypogonadism 26 with or without anosmia
- c.325+2T>C Single submitter TCF12-related craniosynostosis
- c.326-2A>G Single submitter
- c.526+2T>G Single submitter TCF12-related craniosynostosis
- c.579+2T>C Single submitter Developmental disorder
- c.580-1G>T Single submitter TCF12-related disorder
- p.Arg611His Single submitter TCF12-related craniosynostosis
- p.Asp589_Leu590insTer Single submitter craniosynostosis
- p.Gln533Ter Single submitter Male infertility with azoospermia or oligozoospermia due to single gene mutation
- p.Gln65Ter Single submitter TCF12-related craniosynostosis
- p.Glu420delinsLeuTer Single submitter
- p.Glu541fs Single submitter hypogonadotropic hypogonadism 26 with or without anosmia
- p.Glu597fs Single submitter TCF12-related craniosynostosis
- p.Glu623fs Single submitter Common craniosynostosis syndromes
- p.Gly128fs Single submitter Delayed speech and language development
- p.Gly150fs Single submitter TCF12-related disorder
- p.Gly477Ter Single submitter
- p.Ile643fs Single submitter TCF12-related craniosynostosis
- p.Leu21fs Single submitter
- p.Leu459Ter Single submitter hypogonadotropic hypogonadism 26 with or without anosmia
- p.Met260fs Single submitter TCF12-related craniosynostosis
- p.Phe249fs Single submitter TCF12-related craniosynostosis
- p.Ser105Ter Single submitter Male infertility with azoospermia or oligozoospermia due to single gene mutation
- p.Ser149Ter Single submitter
- p.Ser219fs Single submitter TCF12-related craniosynostosis
- p.Ser305Ter Single submitter TCF12-related disorder
- p.Ser49fs Single submitter TCF12-related craniosynostosis
- p.Ser576Ter Single submitter hypogonadotropic hypogonadism 26 with or without anosmia
- p.Thr100fs Single submitter TCF12-related craniosynostosis
- p.Thr335fs Single submitter TCF12-related disorder
- p.Thr536fs Single submitter craniosynostosis
- p.Tyr156fs Single submitter TCF12-related craniosynostosis
- p.Val183fs Single submitter
- p.Val575fs Single submitter TCF12-related disorder
- p.Ile456_His457insTer No assertion criteria TCF12-related disorder
Conflicting classifications of pathogenicity 12
- c.1036-6G>A Single submitter TCF12-related craniosynostosis
- c.526+1G>A Single submitter Inborn genetic diseases ⚠
- p.Ala482Thr Single submitter Inborn genetic diseases ⚠
- p.Arg603Gln Single submitter TCF12-related disorder ⚠
- p.Arg603Trp Single submitter hypogonadotropic hypogonadism 26 with or without anosmia ⚠
- p.Arg613His Single submitter Inborn genetic diseases ⚠
- p.Asn317Ser Single submitter ⚠
- p.Asn472Ser Single submitter Inborn genetic diseases ⚠
- p.Cys628Arg Single submitter TCF12-related craniosynostosis ⚠
- p.Ile651Phe Single submitter ⚠
- p.Leu624Phe Single submitter ⚠
- p.Met489Val Single submitter ⚠
Benign 47
- c.1189-126T>C Multiple submitters
- c.1745+51C>A Multiple submitters
- c.390+120C>T Multiple submitters
- c.391-40C>T Multiple submitters
- c.526+122G>A Multiple submitters
- c.579+11A>G Multiple submitters
- c.685+87A>G Multiple submitters
- c.76-18A>G Multiple submitters
- c.825+114T>G Multiple submitters
- c.825+128G>A Multiple submitters
- c.826-53T>C Multiple submitters
- p.Gln45= Multiple submitters
- p.Gly300Ser Multiple submitters
- p.Leu632= Multiple submitters
- p.Pro99= Multiple submitters
- c.1035+278T>C Single submitter
- c.1036-205C>T Single submitter
- c.1036-9T>C Single submitter
- c.1115-183dup Single submitter
- c.1261-168A>G Single submitter
- c.1468-302T>G Single submitter
- c.1468-321C>T Single submitter
- c.148+275G>A Single submitter
- c.1582+7A>G Single submitter
- c.1583-69_1583-66dup Single submitter
- c.1978+320C>A Single submitter
- c.222+231C>T Single submitter
- c.326-257G>T Single submitter
- c.390+237A>G Single submitter
- c.390+268A>G Single submitter
- c.527-19T>G Single submitter
- c.527-228C>T Single submitter
- c.579+222T>A Single submitter
- c.579+267A>G Single submitter
- c.580-11386C>T Single submitter
- c.580-11414del Single submitter
- c.580-11414dup Single submitter
- c.580-186dup Single submitter
- c.580-187_580-186dup Single submitter
- c.685+116del Single submitter
- c.685+298A>G Single submitter
- c.686-209T>C Single submitter
- c.76-205A>G Single submitter
- c.970+176TA[2] Single submitter
- c.970+214TG[2] Single submitter
- p.Pro357= Single submitter
- p.Ser271Leu Single submitter intellectual disability
Benign/Likely benign 7
- c.580-12T>C Multiple submitters
- c.75+19G>C Multiple submitters
- p.Asn546= Multiple submitters
- p.Ile316Val Multiple submitters
- p.Ile643= Multiple submitters
- p.Leu507Arg Multiple submitters
- p.Val650= Multiple submitters TCF12-related craniosynostosis
Likely benign 102
- c.1035+74A>T Multiple submitters
- c.1114+103T>C Multiple submitters
- c.1114+132A>C Multiple submitters
- c.1115-9T>C Multiple submitters
- c.326-137T>C Multiple submitters
- c.391-144C>A Multiple submitters
- c.526+188T>A Multiple submitters
- c.76-45T>C Multiple submitters
- c.825+14C>T Multiple submitters
- c.-22-128G>A Multiple submitters
- c.-22-92C>G Multiple submitters
- p.Ala174Val Multiple submitters
- p.Asp19= Multiple submitters
- p.Glu113Asp Multiple submitters
- p.Leu126= Multiple submitters
- p.Thr687Ala Multiple submitters Inborn genetic diseases
- c.1036-16C>T Single submitter
- c.1036-304T>C Single submitter
- c.1115-210del Single submitter
- c.1467+9A>G Single submitter
- c.1468-6C>T Single submitter
- c.1582+134A>G Single submitter
- c.1582+261A>G Single submitter
- c.1583-188A>T Single submitter
- c.1746-19T>G Single submitter
- c.1979-239T>A Single submitter
- c.1979-7G>C Single submitter
- c.222+16A>T Single submitter
- c.222+17A>G Single submitter
- c.222+20C>G Single submitter
- c.222+68G>T Single submitter
- c.325+17C>T Single submitter
- c.326-11T>C Single submitter
- c.326-13C>G Single submitter
- c.390+251T>C Single submitter
- c.526+17A>G Single submitter
- c.526+17A>T Single submitter
- c.579+18T>G Single submitter
- c.580-11292G>A Single submitter
- c.580-11355C>T Single submitter
- c.580-11405del Single submitter
- c.580-11415_580-11414dup Single submitter
- c.580-11543A>G Single submitter
- c.580-11709T>A Single submitter
- c.580-11913C>T Single submitter
- c.580-81C>A Single submitter
- c.685+18A>T Single submitter
- c.685+328T>C Single submitter
- c.75+16A>G Single submitter
- c.75+287G>A Single submitter
- c.75+43TTTG[4] Single submitter
- c.825+15G>A Single submitter
- c.825+49G>A Single submitter
- c.825+8A>G Single submitter
- c.826-14C>G Single submitter
- c.970+287T>C Single submitter
- c.970+294A>G Single submitter
- c.971-13_971-12del Single submitter
- c.971-224G>A Single submitter
- c.971-4C>G Single submitter
- c.971-6A>T Single submitter
- c.*11+297T>C Single submitter
- c.*3A>G Single submitter TCF12-related craniosynostosis
- p.Ala482Val Single submitter
- p.Asn106Asp Single submitter Inborn genetic diseases
- p.Asn242Asp Single submitter
- p.Asp236Glu Single submitter Inborn genetic diseases
- p.Asp320Glu Single submitter Inborn genetic diseases
- p.Glu597= Single submitter
- p.Gly230= Single submitter
- p.Gly318Glu Single submitter ⚠
- p.Gly444= Single submitter
- p.Gly691= Single submitter
- p.His394= Single submitter
- p.His405= Single submitter
- p.Leu107= Single submitter
- p.Leu323= Single submitter
- p.Leu393= Single submitter
- p.Leu500= Single submitter
- p.Met412Val Single submitter Inborn genetic diseases
- p.Phe221= Single submitter
- p.Phe414= Single submitter
- p.Pro188Ser Single submitter Inborn genetic diseases
- p.Pro212= Single submitter
- p.Pro637= Single submitter
- p.Ser148= Single submitter
- p.Ser311= Single submitter
- p.Ser395= Single submitter
- p.Ser470= Single submitter
- p.Ser559= Single submitter
- p.Ser682= Single submitter
- p.Ser89= Single submitter
- p.Thr313= Single submitter
- p.Thr373= Single submitter
- p.Thr40= Single submitter
- p.Tyr526= Single submitter
- c.1583-8T>C No assertion criteria TCF12-related disorder
- c.222+8840C>G No assertion criteria TCF12-related disorder
- c.580-11601G>C No assertion criteria TCF12-related disorder
- p.Asn104Ser No assertion criteria
- p.Gly380= No assertion criteria TCF12-related disorder
- p.Ser484= No assertion criteria TCF12-related disorder
Uncertain significance 273
- p.Ala173Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg399Gln Multiple submitters
- p.Arg611Cys Multiple submitters ⚠
- p.Arg613Cys Multiple submitters TCF12-related craniosynostosis ⚠
- p.Asp123Gly Multiple submitters Inborn genetic diseases ⚠
- p.Gln4Leu Multiple submitters Inborn genetic diseases ⚠
- p.Gln533Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gly267= Multiple submitters TCF12-related craniosynostosis
- p.Met294Val Multiple submitters Inborn genetic diseases ⚠
- p.Pro152Ser Multiple submitters ⚠
- p.Pro690Ser Multiple submitters TCF12-related craniosynostosis ⚠
- p.Ser160Pro Multiple submitters Inborn genetic diseases ⚠
- p.Thr36Ser Multiple submitters Inborn genetic diseases ⚠
- c.1035+4660C>T Single submitter TCF12-related craniosynostosis
- c.1036-19T>G Single submitter
- c.1189-5G>C Single submitter
- c.1189-6T>A Single submitter
- c.1261-12T>A Single submitter
- c.1261-2A>C Single submitter
- c.148+1G>A Single submitter
- c.1582+6T>C Single submitter
- c.1745+3A>G Single submitter
- c.390+5G>A Single submitter Inborn genetic diseases
- c.526+5G>C Single submitter
- c.527-6C>A Single submitter
- c.579+5G>A Single submitter
- c.580-11560T>C Single submitter
- c.580-11587T>A Single submitter
- c.580-11627T>C Single submitter Inborn genetic diseases
- c.685+5G>A Single submitter
- c.686-3T>G Single submitter
- c.971-5T>G Single submitter
- c.971-8A>G Single submitter
- c.*11+1G>A Single submitter
- c.*646T>G Single submitter TCF12-related craniosynostosis
- p.Ala144Thr Single submitter Inborn genetic diseases ⚠
- p.Ala310Pro Single submitter ⚠
- p.Ala330Ser Single submitter Inborn genetic diseases ⚠
- p.Ala434Val Single submitter ⚠
- p.Ala466Val Single submitter ⚠
- p.Arg114Lys Single submitter Inborn genetic diseases ⚠
- p.Arg166Gly Single submitter ⚠
- p.Arg167Leu Single submitter
- p.Arg167Ter Single submitter
- p.Arg206Cys Single submitter
- p.Arg206His Single submitter Inborn genetic diseases ⚠
- p.Arg206Leu Single submitter ⚠
- p.Arg274Cys Single submitter Inborn genetic diseases ⚠
- p.Arg274His Single submitter Inborn genetic diseases ⚠
- p.Arg299= Single submitter
- p.Arg378Gly Single submitter Inborn genetic diseases
- p.Arg423Gln Single submitter Inborn genetic diseases
- p.Arg430Thr Single submitter ⚠
- p.Arg439Gln Single submitter
- p.Arg439Trp Single submitter ⚠
- p.Arg494Gln Single submitter Inborn genetic diseases ⚠
- p.Arg494Gly Single submitter ⚠
- p.Arg527Lys Single submitter Inborn genetic diseases ⚠
- p.Arg527Ser Single submitter Inborn genetic diseases ⚠
- p.Arg578Gly Single submitter Inborn genetic diseases ⚠
- p.Arg611Leu Single submitter ⚠
- p.Arg613Leu Single submitter ⚠
- p.Arg615Trp Single submitter ⚠
- p.Arg661Ser Single submitter ⚠
- p.Arg661Thr Single submitter ⚠
- p.Arg7Cys Single submitter ⚠
- p.Arg90Leu Single submitter Inborn genetic diseases ⚠
- p.Asn106His Single submitter TCF12-related craniosynostosis ⚠
- p.Asn106Ser Single submitter ⚠
- p.Asn205Ser Single submitter ⚠
- p.Asn233Ser Single submitter Inborn genetic diseases ⚠
- p.Asn242Ser Single submitter ⚠
- p.Asn328Ser Single submitter Inborn genetic diseases ⚠
- p.Asn501Ser Single submitter Inborn genetic diseases ⚠
- p.Asn503Ser Single submitter ⚠
- p.Asn525Tyr Single submitter ⚠
- p.Asn546Lys Single submitter Inborn genetic diseases ⚠
- p.Asn606Tyr Single submitter Inborn genetic diseases ⚠
- p.Asn607Asp Single submitter ⚠
- p.Asn607Lys Single submitter TCF12-related craniosynostosis ⚠
- p.Asn607Ser Single submitter Inborn genetic diseases ⚠
- p.Asn662Lys Single submitter ⚠
- p.Asn664fs Single submitter TCF12-related craniosynostosis
- p.Asp123His Single submitter ⚠
- p.Asp137Glu Single submitter ⚠
- p.Asp202Gly Single submitter Inborn genetic diseases
- p.Asp236Tyr Single submitter ⚠
- p.Asp286Gly Single submitter
- p.Asp426Val Single submitter ⚠
- p.Asp429Glu Single submitter ⚠
- p.Asp432Glu Single submitter Inborn genetic diseases ⚠
- p.Asp433Tyr Single submitter ⚠
- p.Asp455Val Single submitter ⚠
- p.Asp517His Single submitter ⚠
- p.Asp587Gly Single submitter Inborn genetic diseases ⚠
- p.Asp78Gly Single submitter ⚠
- p.Asp88Ala Single submitter ⚠
- p.Asp88Tyr Single submitter
- p.Cys628Tyr Single submitter ⚠
- p.Cys669Tyr Single submitter Inborn genetic diseases ⚠
- p.Gln130Arg Single submitter Inborn genetic diseases ⚠
- p.Gln403Leu Single submitter
- p.Gln409Pro Single submitter
- p.Gln629Glu Single submitter ⚠
- p.Glu390Lys Single submitter ⚠
- p.Glu425Gly Single submitter ⚠
- p.Glu599Gln Single submitter ⚠
- p.Glu635Ala Single submitter Inborn genetic diseases ⚠
- p.Glu675Ala Single submitter ⚠
- p.Glu676fs Single submitter
- p.Glu676Gly Single submitter ⚠
- p.Gly115fs Single submitter
- p.Gly125Arg Single submitter ⚠
- p.Gly128Arg Single submitter Inborn genetic diseases ⚠
- p.Gly139Arg Single submitter ⚠
- p.Gly141Arg Single submitter Inborn genetic diseases ⚠
- p.Gly153Glu Single submitter ⚠
- p.Gly243Glu Single submitter Inborn genetic diseases ⚠
- p.Gly248Arg Single submitter ⚠
- p.Gly250Arg Single submitter Inborn genetic diseases
- p.Gly267_Asn268insGly Single submitter
- p.Gly324= Single submitter
- p.Gly365Glu Single submitter ⚠
- p.Gly372Ser Single submitter ⚠
- p.Gly380Val Single submitter ⚠
- p.Gly469Arg Single submitter Inborn genetic diseases ⚠
- p.Gly48Arg Single submitter
- p.Gly48Glu Single submitter ⚠
- p.Gly528Ser Single submitter ⚠
- p.Gly529Ala Single submitter Inborn genetic diseases ⚠
- p.Gly55Arg Single submitter Inborn genetic diseases ⚠
- p.Gly625Val Single submitter ⚠
- p.Gly695Arg Single submitter Inborn genetic diseases ⚠
- p.His232Gln Single submitter Inborn genetic diseases ⚠
- p.His453Tyr Single submitter ⚠
- p.His520Asp Single submitter ⚠
- p.His645Arg Single submitter ⚠
- p.His645Pro Single submitter ⚠
- p.His693fs Single submitter
- p.His81Asp Single submitter ⚠
- p.His85Asp Single submitter ⚠
- p.His85Pro Single submitter ⚠
- p.Ile287Val Single submitter Inborn genetic diseases ⚠
- p.Ile435Val Single submitter Inborn genetic diseases ⚠
- p.Ile573Thr Single submitter ⚠
- p.Ile617Ser Single submitter ⚠
- p.Ile643Asn Single submitter ⚠
- p.Ile643Phe Single submitter ⚠
- p.Ile651Ser Single submitter TCF12-related craniosynostosis ⚠
- p.Leu107Pro Single submitter ⚠
- p.Leu119Pro Single submitter ⚠
- p.Leu126Ser Single submitter Inborn genetic diseases ⚠
- p.Leu133Pro Single submitter ⚠
- p.Leu138Val Single submitter Inborn genetic diseases ⚠
- p.Leu140Pro Single submitter ⚠
- p.Leu169Phe Single submitter ⚠
- p.Leu21Val Single submitter Inborn genetic diseases ⚠
- p.Leu339Pro Single submitter ⚠
- p.Leu396Val Single submitter Inborn genetic diseases
- p.Leu408Phe Single submitter Inborn genetic diseases
- p.Leu471Arg Single submitter
- p.Leu500Phe Single submitter Inborn genetic diseases ⚠
- p.Leu500Val Single submitter Inborn genetic diseases ⚠
- p.Leu530Phe Single submitter ⚠
- p.Leu530Ser Single submitter Inborn genetic diseases ⚠
- p.Leu632Phe Single submitter ⚠
- p.Leu642Pro Single submitter ⚠
- p.Leu654Pro Single submitter TCF12-related disorder ⚠
- p.Lys35Ter Single submitter
- p.Lys600Thr Single submitter ⚠
- p.Lys622Arg Single submitter Inborn genetic diseases ⚠
- p.Met227Ile Single submitter Inborn genetic diseases ⚠
- p.Met412Thr Single submitter Inborn genetic diseases
- p.Met424Val Single submitter Inborn genetic diseases ⚠
- p.Met703Val Single submitter Inborn genetic diseases ⚠
- p.Met8fs Single submitter Kallmann syndrome
- p.Met8Thr Single submitter ⚠
- p.Met8Val Single submitter Inborn genetic diseases ⚠
- p.Phe204Ser Single submitter Inborn genetic diseases ⚠
- p.Phe225Leu Single submitter ⚠
- p.Phe226Ser Single submitter ⚠
- p.Phe27Tyr Single submitter ⚠
- p.Phe621Cys Single submitter ⚠
- p.Pro101Ser Single submitter ⚠
- p.Pro168Leu Single submitter ⚠
- p.Pro177Ala Single submitter ⚠
- p.Pro177Thr Single submitter ⚠
- p.Pro188Leu Single submitter Inborn genetic diseases
- p.Pro197Leu Single submitter
- p.Pro199_Asn200del Single submitter
- p.Pro212Ala Single submitter ⚠
- p.Pro212Ser Single submitter ⚠
- p.Pro247Ser Single submitter Inborn genetic diseases ⚠
- p.Pro279Ser Single submitter ⚠
- p.Pro284Ser Single submitter ⚠
- p.Pro314Thr Single submitter Inborn genetic diseases ⚠
- p.Pro360Ala Single submitter
- p.Pro367Ser Single submitter ⚠
- p.Pro377Thr Single submitter ⚠
- p.Pro379His Single submitter Inborn genetic diseases ⚠
- p.Pro38Ser Single submitter ⚠
- p.Pro445Thr Single submitter ⚠
- p.Pro556Ser Single submitter Inborn genetic diseases ⚠
- p.Pro592Ser Single submitter Inborn genetic diseases ⚠
- p.Pro686Leu Single submitter ⚠
- p.Pro68Leu Single submitter ⚠
- p.Pro99Gln Single submitter Inborn genetic diseases ⚠
- p.Pro99Leu Single submitter TCF12-related disorder ⚠
- p.Ser121Gly Single submitter ⚠
- p.Ser131Pro Single submitter Inborn genetic diseases ⚠
- p.Ser223Asn Single submitter ⚠
- p.Ser239Gly Single submitter ⚠
- p.Ser245Thr Single submitter ⚠
- p.Ser303Asn Single submitter Inborn genetic diseases ⚠
- p.Ser304Gly Single submitter ⚠
- p.Ser321Gly Single submitter Inborn genetic diseases ⚠
- p.Ser355Thr Single submitter ⚠
- p.Ser388Gly Single submitter ⚠
- p.Ser388Ile Single submitter ⚠
- p.Ser413Tyr Single submitter
- p.Ser422Pro Single submitter ⚠
- p.Ser43Asn Single submitter ⚠
- p.Ser448Arg Single submitter ⚠
- p.Ser448Asn Single submitter ⚠
- p.Ser44Gly Single submitter Inborn genetic diseases ⚠
- p.Ser454Asn Single submitter ⚠
- p.Ser470Arg Single submitter Inborn genetic diseases ⚠
- p.Ser483Arg Single submitter ⚠
- p.Ser486Leu Single submitter Inborn genetic diseases ⚠
- p.Ser486Pro Single submitter ⚠
- p.Ser508Tyr Single submitter ⚠
- p.Ser514Ala Single submitter ⚠
- p.Ser515Gly Single submitter ⚠
- p.Ser532Asn Single submitter ⚠
- p.Ser569Pro Single submitter Inborn genetic diseases ⚠
- p.Ser679Pro Single submitter
- p.Ser682fs Single submitter Inborn genetic diseases
- p.Ser697fs Single submitter
- p.Ser69Phe Single submitter Inborn genetic diseases ⚠
- p.Thr100Ala Single submitter Inborn genetic diseases ⚠
- p.Thr124Ala Single submitter ⚠
- p.Thr13Pro Single submitter ⚠
- p.Thr154Ile Single submitter ⚠
- p.Thr257Ala Single submitter ⚠
- p.Thr289Arg Single submitter ⚠
- p.Thr302Ala Single submitter ⚠
- p.Thr40Ser Single submitter Inborn genetic diseases ⚠
- p.Thr513Ser Single submitter ⚠
- p.Thr516Ala Single submitter Inborn genetic diseases ⚠
- p.Thr540Arg Single submitter ⚠
- p.Thr584Ala Single submitter ⚠
- p.Thr58Ala Single submitter Inborn genetic diseases ⚠
- p.Trp238_Ser239delinsCysGly Single submitter
- p.Tyr195Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr211Cys Single submitter
- p.Tyr307Asn Single submitter
- p.Tyr307His Single submitter ⚠
- p.Tyr307Phe Single submitter ⚠
- p.Tyr347Phe Single submitter Inborn genetic diseases ⚠
- p.Tyr70Cys Single submitter Inborn genetic diseases ⚠
- p.Val282Leu Single submitter ⚠
- p.Val308Ile Single submitter Inborn genetic diseases ⚠
- p.Val400Ile Single submitter Inborn genetic diseases
- p.Val418Ile Single submitter
- p.Val437Met Single submitter ⚠
- p.Val506Phe Single submitter Inborn genetic diseases ⚠
- p.Val538Ile Single submitter ⚠
- p.Val650Leu Single submitter ⚠
- p.Val678fs Single submitter
- p.Val681Ile Single submitter Inborn genetic diseases ⚠
- p.Glu586Asp No assertion criteria TCF12-related disorder ⚠
- p.Lys574Gln No assertion criteria TCF12-related craniosynostosis ⚠
- p.Pro199Ala No assertion criteria TCF12-related disorder ⚠