Sugi Variant

Sugi Variant/FGFR1

FGFR1 — 1240 ClinVar variants

All ClinVar germline FGFR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 463 flagged for review →

114 Pathogenic · 23 Pathogenic/Likely pathogenic · 78 Likely pathogenic · 97 Conflicting · 49 Benign · 34 Benign/Likely benign · 330 Likely benign · 515 Uncertain significance

Full FGFR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 463

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 6

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

Predictors agree, ClinVar conflicts 30

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

Predicted LoF vs a conflicting call 3

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.

Predictors lean, ClinVar uncertain 234

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 234

Predictors split 190

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 190

All FGFR1 variants

Pathogenic 114

  • p.Arg250Gln Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Arg609Ter Multiple submitters FGFR1-related disorder
  • p.Asn546Lys Multiple submitters rosette-forming glioneuronal tumor of fourth ventricule
  • p.Gln52Ter Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Glu84fs Multiple submitters Pfeiffer syndrome
  • p.Gly348Arg Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Lys321fs Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Pro252Arg Multiple submitters osteoglophonic dysplasia
  • p.Ser530Ter Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • c.1081+1G>T Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.1285-2A>G Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.1430+1del Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.1430+1G>A Single submitter Pfeiffer syndrome
  • c.1431-1G>A Single submitter
  • c.1553-2A>G Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.1854+1G>A Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.1855-2A>C Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.2187-1G>A Single submitter
  • c.2293-1G>T Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.91+1_91+6del Single submitter
  • c.92-1G>T Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Ala608fs Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Arg209fs Single submitter Pfeiffer syndrome
  • p.Arg250Pro Single submitter lobar holoprosencephaly
  • p.Arg507fs Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Arg56fs Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Arg576fs Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Arg622fs Single submitter Pfeiffer syndrome
  • p.Arg622Gly Single submitter
  • p.Arg718Gly Single submitter
  • p.Asn185fs Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Asn628Asp Single submitter Pfeiffer syndrome
  • p.Asn628Ser Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Asp524fs Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Asp623Glu Single submitter Hartsfield-Bixler-Demyer syndrome
  • p.Asp641Asn Single submitter Hartsfield-Bixler-Demyer syndrome
  • p.Cys101Phe Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Cys603Ter Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Gln309Ter Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Gln32fs Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Gln411Ter Single submitter Pfeiffer syndrome
  • p.Glu274fs Single submitter Pfeiffer syndrome
  • p.Glu462fs Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Glu562Ter Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Glu571fs Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Glu708Ter Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Gly337Arg Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Gly487Asp Single submitter Hartsfield-Bixler-Demyer syndrome
  • p.Gly697Arg Single submitter Pfeiffer syndrome
  • p.His327fs Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.His649fs Single submitter Pfeiffer syndrome
  • p.His650fs Single submitter Pfeiffer syndrome
  • p.His679fs Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Ile347fs Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Ile545fs Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Leu165fs Single submitter Pfeiffer syndrome
  • p.Leu261fs Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Leu423fs Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Leu557fs Single submitter encephalocraniocutaneous lipomatosis
  • p.Leu630Pro Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Leu98fs Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Lys278Ter Single submitter Pfeiffer syndrome
  • p.Lys482fs Single submitter Pfeiffer syndrome
  • p.Lys504fs Single submitter Pfeiffer syndrome
  • p.Lys655Ter Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Lys656Glu Single submitter encephalocraniocutaneous lipomatosis
  • p.Met535Lys Single submitter Hartsfield-Bixler-Demyer syndrome
  • p.Met731fs Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Phe385fs Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Phe686fs Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Pro25fs Single submitter Pfeiffer syndrome
  • p.Pro663Arg Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Ser119fs Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Ser24fs Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Ser251Phe Single submitter
  • p.Ser588fs Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Ser723fs Single submitter
  • p.Ser742fs Single submitter
  • p.Thr15fs Single submitter
  • p.Thr657fs Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Trp190fs Single submitter Pfeiffer syndrome
  • p.Trp190Ter Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Trp34Ter Single submitter
  • p.Trp355fs Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Trp666Arg Single submitter Hartsfield-Bixler-Demyer syndrome
  • p.Trp666Ter Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Trp684Ter Single submitter
  • p.Tyr210Ter Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Tyr243Ter Single submitter hypogonadotropic hypogonadism
  • p.Tyr558fs Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Tyr572Ter Single submitter hypogonadotropic hypogonadism
  • p.Tyr585Ter Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Tyr613Ter Single submitter
  • p.Val116fs Single submitter Pfeiffer syndrome
  • p.Val38fs Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Val441fs Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Val683Gly Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Val71fs Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.1430+1G>T No assertion criteria hypogonadotropic hypogonadism 2 with or without anosmia
  • c.1855-1G>A No assertion criteria hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Ala167Ser No assertion criteria Hypogonadotropic hypogonadism 2 with anosmia
  • p.Ala608Asp No assertion criteria hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Asn264His No assertion criteria hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Asn330Ile No assertion criteria osteoglophonic dysplasia
  • p.Asp623Tyr No assertion criteria Hartsfield-Bixler-Demyer syndrome
  • p.Cys725Tyr No assertion criteria Hartsfield-Bixler-Demyer syndrome
  • p.Gln764His No assertion criteria hypogonadotropic hypogonadism 2 with or without anosmia ⚠
  • p.Leu165Ser No assertion criteria Hartsfield-Bixler-Demyer syndrome
  • p.Lys172fs No assertion criteria hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Lys523fs No assertion criteria FGFR1-related disorder
  • p.Pro722Ser No assertion criteria Hypogonadotropic hypogonadism 2 with anosmia
  • p.Ser135fs No assertion criteria hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Thr695Ile No assertion criteria hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Tyr374Cys No assertion criteria osteoglophonic dysplasia ⚠

Pathogenic/Likely pathogenic 23

  • c.1977+1G>A Multiple submitters FGFR1-related disorder
  • c.1977+1G>T Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • c.91+1G>A Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Ala343= Multiple submitters hypogonadotropic hypogonadism
  • p.Arg250Trp Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Arg254Trp Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Arg622Ter Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Arg661Ter Multiple submitters FGFR1-related disorder
  • p.Arg78Cys Multiple submitters Pfeiffer syndrome
  • p.Cys381Arg Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Gln680Ter Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Gln72Ter Multiple submitters Pfeiffer syndrome
  • p.Glu294Lys Multiple submitters FGFR1-related disorder ⚠
  • p.Glu633fs Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Glu670Lys Multiple submitters FGFR1-related disorder
  • p.Gly237Asp Multiple submitters encephalocraniocutaneous lipomatosis
  • p.Gly687Arg Multiple submitters FGFR1-related disorder
  • p.Gly97Ser Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Ile639Thr Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Met535del Multiple submitters Hartsfield-Bixler-Demyer syndrome
  • p.Ser346fs Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Tyr99Cys Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Arg627Ser No assertion criteria Hartsfield-Bixler-Demyer syndrome

Likely pathogenic 78

  • c.448+1G>A Multiple submitters Pfeiffer syndrome
  • p.Arg209Cys Multiple submitters FGFR1-related disorder
  • p.Arg254Gln Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Asp224His Multiple submitters hypogonadotropic hypogonadism
  • p.Gly237Ser Multiple submitters FGFR1-related disorder
  • p.Gly270Asp Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Gly48Ser Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia ⚠
  • p.Gly610Asp Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Pro745Ser Multiple submitters FGFR1-related disorder
  • p.Trp737Arg Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • c.1081+1G>A Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.1552+1G>T Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.1854+2T>C Single submitter Jackson-Weiss syndrome
  • c.1855-2A>G Single submitter Pfeiffer syndrome
  • c.1977+4A>T Single submitter
  • c.2049-1G>A Single submitter Pfeiffer syndrome
  • c.2049-1G>C Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.2186+2T>G Single submitter Pfeiffer syndrome
  • c.449-1G>A Single submitter Pfeiffer syndrome
  • c.622-2A>G Single submitter Pfeiffer syndrome
  • c.745+1G>T Single submitter Pfeiffer syndrome
  • c.745+2T>A Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Ala361Pro Single submitter Pfeiffer syndrome ⚠
  • p.Ala36fs Single submitter osteoglophonic dysplasia
  • p.Ala671Pro Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Ala94fs Single submitter FGFR1-related disorder
  • p.Arg646Trp Single submitter
  • p.Arg718Cys Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Arg744Ile Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Arg809fs Single submitter multiple epiphyseal dysplasia
  • p.Asp682Asn Single submitter Hartsfield-Bixler-Demyer syndrome
  • p.Cys178Gly Single submitter Pfeiffer syndrome
  • p.Gln491Ter Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Gln62Ter Single submitter
  • p.Gln813fs Single submitter multiple epiphyseal dysplasia
  • p.Glu531Gly Single submitter Pfeiffer syndrome
  • p.Glu715Val Single submitter hypogonadotropic hypogonadism 11 with or without anosmia
  • p.Gly337Glu Single submitter
  • p.Gly402fs Single submitter
  • p.Gly490Val Single submitter osteoglophonic dysplasia
  • p.Gly97Arg Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Ile239Thr Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Leu342Ser Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Leu630Arg Single submitter Autosomal recessive FGFR1-related disorders
  • p.Leu672Phe Single submitter Pfeiffer syndrome
  • p.Leu713Pro Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Lys172Ter Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Lys598_Val607del Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Lys618Asn Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Met456fs Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Met719Thr Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Met719Val Single submitter
  • p.Phe747fs Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Phe747Leu Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Pro222fs Single submitter
  • p.Pro306Leu Single submitter osteoglophonic dysplasia ⚠
  • p.Pro722His Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Pro745Leu Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Ser281fs Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Thr266Ile Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Thr340Ala Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Trp2Ter Single submitter
  • p.Tyr228Asp Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Tyr653Cys Single submitter Hartsfield-Bixler-Demyer syndrome
  • p.Val279fs Single submitter
  • p.Val279Gly Single submitter
  • p.Val429Glu Single submitter hypogonadotropic hypogonadism 2 with or without anosmia ⚠
  • p.Val92_Ser96del Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Arg821fs No assertion criteria hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Asn296Ser No assertion criteria hypogonadotropic hypogonadism 2 with or without anosmia ⚠
  • p.Asp218fs No assertion criteria hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Gln606Ter No assertion criteria FGFR1-related disorder
  • p.Glu692Lys No assertion criteria holoprosencephaly
  • p.Gly348Glu No assertion criteria hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Gly485Val No assertion criteria Hartsfield-Bixler-Demyer syndrome
  • p.Gly490Arg No assertion criteria Hartsfield-Bixler-Demyer syndrome
  • p.Gly643Asp No assertion criteria microform holoprosencephaly
  • p.Val71Met No assertion criteria hypogonadotropic hypogonadism 2 with or without anosmia ⚠

Conflicting classifications of pathogenicity 97

  • c.1430+13T>C Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.1431-5G>A Single submitter craniosynostosis
  • c.1663+9C>T Single submitter Pfeiffer syndrome
  • c.1854+19C>T Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.1978-8del Single submitter Pfeiffer syndrome
  • c.2049-12G>A Single submitter Pfeiffer syndrome
  • c.2187-14C>T Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.2292+3A>G Single submitter Pfeiffer syndrome
  • c.2293-11G>A Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.358+2T>C Single submitter Hartsfield-Bixler-Demyer syndrome ⚠
  • c.359-4A>G Single submitter Pfeiffer syndrome
  • c.448+1G>C Single submitter Pfeiffer syndrome ⚠
  • c.449-6G>A Single submitter Pfeiffer syndrome
  • c.746-14C>T Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.92-6C>G Single submitter Inborn genetic diseases
  • c.937-14G>A Single submitter Pfeiffer syndrome
  • c.937-6T>G Single submitter Inborn genetic diseases
  • c.-338T>G Single submitter craniosynostosis
  • c.-578A>C Single submitter trigonocephaly 1
  • c.-853G>C Single submitter craniosynostosis
  • c.*1111C>T Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.*14G>A Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.*1982A>C Single submitter craniosynostosis
  • c.*494A>G Single submitter trigonocephaly 1
  • p.Ala263= Single submitter Pfeiffer syndrome
  • p.Ala343Val Single submitter Pfeiffer syndrome ⚠
  • p.Ala640Val Single submitter Pfeiffer syndrome ⚠
  • p.Ala645Val Single submitter Hartsfield-Bixler-Demyer syndrome ⚠
  • p.Arg189Cys Single submitter hypogonadotropic hypogonadism 2 with or without anosmia ⚠
  • p.Arg22Ser Single submitter hypogonadotropic hypogonadism ⚠
  • p.Arg448Gln Single submitter osteoglophonic dysplasia ⚠
  • p.Arg470Leu Single submitter hypogonadotropic hypogonadism 2 with or without anosmia ⚠
  • p.Arg507His Single submitter hypogonadotropic hypogonadism 2 with or without anosmia ⚠
  • p.Arg56= Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Arg622Gln Single submitter orofacial cleft 1 ⚠
  • p.Arg627Thr Single submitter Hartsfield-Bixler-Demyer syndrome ⚠
  • p.Arg661Gln Single submitter FGFR1-related craniosynostosis syndrome ⚠
  • p.Arg675Pro Single submitter trigonocephaly 1 ⚠
  • p.Arg718His Single submitter ⚠
  • p.Arg756His Single submitter Jackson-Weiss syndrome ⚠
  • p.Arg784Gln Single submitter Pfeiffer syndrome ⚠
  • p.Arg809Gln Single submitter Pfeiffer syndrome ⚠
  • p.Arg809Ter Single submitter Pfeiffer syndrome ⚠
  • p.Arg822Cys Single submitter craniosynostosis ⚠
  • p.Arg822His Single submitter Hartsfield-Bixler-Demyer syndrome ⚠
  • p.Asn659= Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Asn724Lys Single submitter Pfeiffer syndrome ⚠
  • p.Asp129Ala Single submitter FGFR1-related disorder ⚠
  • p.Asp133dup Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Asp623= Single submitter craniosynostosis
  • p.Asp641Gly Single submitter Pfeiffer syndrome ⚠
  • p.Cys178Arg Single submitter hypogonadotropic hypogonadism 2 with or without anosmia ⚠
  • p.Cys603= Single submitter Jackson-Weiss syndrome
  • p.Gln89Arg Single submitter osteoglophonic dysplasia ⚠
  • p.Glu274Gly Single submitter hypogonadotropic hypogonadism 2 with or without anosmia ⚠
  • p.Glu692Gly Single submitter hypogonadotropic hypogonadism 2 with or without anosmia ⚠
  • p.Gly205= Single submitter Pfeiffer syndrome
  • p.Gly226Asp Single submitter hypogonadotropic hypogonadism 2 with or without anosmia ⚠
  • p.Gly703Ser Single submitter hypogonadotropic hypogonadism 2 with or without anosmia ⚠
  • p.Gly817= Single submitter craniosynostosis
  • p.His46Tyr Single submitter Pfeiffer syndrome ⚠
  • p.His810Tyr Single submitter Pfeiffer syndrome ⚠
  • p.Ile287= Single submitter craniosynostosis
  • p.Ile300Thr Single submitter osteoglophonic dysplasia ⚠
  • p.Ile81= Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Ile81Val Single submitter Pfeiffer syndrome ⚠
  • p.Leu57Met Single submitter Pfeiffer syndrome ⚠
  • p.Leu760= Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Lys139Glu Single submitter hypogonadotropic hypogonadism 2 with or without anosmia ⚠
  • p.Lys517Thr Single submitter Hartsfield-Bixler-Demyer syndrome ⚠
  • p.Met456Ile Single submitter hypogonadotropic hypogonadism 2 with or without anosmia ⚠
  • p.Met532Thr Single submitter encephalocraniocutaneous lipomatosis ⚠
  • p.Phe686Ser Single submitter hypogonadotropic hypogonadism 2 with or without anosmia ⚠
  • p.Pro23Leu Single submitter hypogonadotropic hypogonadism 2 with or without anosmia ⚠
  • p.Pro28Leu Single submitter hypogonadotropic hypogonadism 2 with or without anosmia ⚠
  • p.Pro366= Single submitter Pfeiffer syndrome
  • p.Pro366Leu Single submitter trigonocephaly 1 ⚠
  • p.Pro669= Single submitter Pfeiffer syndrome
  • p.Pro800Leu Single submitter trigonocephaly 1 ⚠
  • p.Ser393= Single submitter Pfeiffer syndrome
  • p.Ser91= Single submitter trigonocephaly 1
  • p.Ser96Cys Single submitter hypogonadotropic hypogonadism 2 with or without anosmia ⚠
  • p.Thr183= Single submitter trigonocephaly 1
  • p.Thr318= Single submitter Pfeiffer syndrome
  • p.Thr340Met Single submitter hypogonadotropic hypogonadism 2 with or without anosmia ⚠
  • p.Trp691Cys Single submitter hypogonadotropic hypogonadism 2 with or without anosmia ⚠
  • p.Val116Ile Single submitter hypogonadotropic hypogonadism 2 with or without anosmia ⚠
  • p.Val221= Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Val247= Single submitter trigonocephaly 1
  • p.Val248Met Single submitter craniosynostosis ⚠
  • p.Val273Met Single submitter Pfeiffer syndrome ⚠
  • p.Val38Met Single submitter hypogonadotropic hypogonadism 2 with or without anosmia ⚠
  • p.Val396Ile Single submitter hypogonadotropic hypogonadism 2 with or without anosmia ⚠
  • p.Val493Met Single submitter Pfeiffer syndrome ⚠
  • p.Val561Met Single submitter Inborn genetic diseases ⚠
  • p.Val71Leu Single submitter Pfeiffer syndrome ⚠
  • p.Val92Met Single submitter Jackson-Weiss syndrome ⚠

Benign 49

Benign/Likely benign 34

  • c.1082-13C>T Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • c.1285-15C>T Multiple submitters encephalocraniocutaneous lipomatosis
  • c.1553-13G>A Multiple submitters craniosynostosis
  • c.1855-16C>T Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • c.359-13C>G Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • c.359-7C>T Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • c.449-9C>G Multiple submitters trigonocephaly 1
  • c.92-14C>T Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • c.-286C>T Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • c.-358C>T Multiple submitters trigonocephaly 1
  • c.*1211G>T Multiple submitters trigonocephaly 1
  • c.*2188T>C Multiple submitters osteoglophonic dysplasia
  • c.*569C>T Multiple submitters trigonocephaly 1
  • c.*906A>T Multiple submitters craniosynostosis
  • p.Asn65Ser Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Asp200= Multiple submitters Pfeiffer syndrome
  • p.Asp59= Multiple submitters Pfeiffer syndrome
  • p.Glu462= Multiple submitters craniosynostosis
  • p.Gly392= Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Leu630= Multiple submitters Pfeiffer syndrome
  • p.Pro466= Multiple submitters osteoglophonic dysplasia
  • p.Pro772Ser Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia ⚠
  • p.Pro808= Multiple submitters osteoglophonic dysplasia
  • p.Ser107Leu Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Ser115= Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Ser125= Multiple submitters trigonocephaly 1
  • p.Ser436= Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Thr112= Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Thr787= Multiple submitters craniosynostosis
  • p.Tyr99= Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Val102Ile Multiple submitters Hartsfield-Bixler-Demyer syndrome ⚠
  • c.449-7C>T Single submitter trigonocephaly 1
  • c.-209G>C Single submitter trigonocephaly 1
  • p.Ala263Thr Single submitter hypogonadotropic hypogonadism 2 with or without anosmia ⚠

Likely benign 330

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

  • c.1081+55G>A Multiple submitters
  • c.1552+16G>T Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • c.1663+10G>A Multiple submitters Jackson-Weiss syndrome
  • c.1855-14_1855-11del Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • c.1977+9C>T Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • c.1978-13G>A Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • c.1978-16C>T Multiple submitters osteoglophonic dysplasia
  • c.2049-13C>T Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • c.2186+19C>T Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • c.2187-19C>T Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • c.2187-5C>T Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • c.358+186T>C Multiple submitters
  • c.359-15TTC[2] Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • c.621+19G>A Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • c.621+7G>T Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • c.745+271G>T Multiple submitters
  • c.745+7G>A Multiple submitters Pfeiffer syndrome
  • c.91+57G>A Multiple submitters
  • c.-88-19G>T Multiple submitters
  • c.-88-3663T>C Multiple submitters
  • p.Ala11= Multiple submitters Pfeiffer syndrome
  • p.Ala152= Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Asn117Ser Multiple submitters Inborn genetic diseases
  • p.Asn727= Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Asp132Asn Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia ⚠
  • p.Asp133del Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Asp69= Multiple submitters Pfeiffer syndrome
  • p.Cys101= Multiple submitters Pfeiffer syndrome
  • p.Gly697= Multiple submitters Inborn genetic diseases
  • p.Ile216= Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Ile395= Multiple submitters osteoglophonic dysplasia
  • p.Ile538= Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Ile757= Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Phe686= Multiple submitters Jackson-Weiss syndrome
  • p.Pro169= Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Pro25= Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Pro262= Multiple submitters Pfeiffer syndrome
  • p.Pro702= Multiple submitters Pfeiffer syndrome
  • p.Pro778= Multiple submitters Pfeiffer syndrome
  • p.Pro800= Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Pro802= Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Ser135= Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Ser393Leu Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia ⚠
  • p.Ser777= Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Ser96= Multiple submitters Pfeiffer syndrome
  • p.Thr20= Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Thr319= Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Thr746= Multiple submitters osteoglophonic dysplasia
  • p.Tyr236= Multiple submitters hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Tyr307= Multiple submitters Pfeiffer syndrome
  • p.Tyr766= Multiple submitters osteoglophonic dysplasia
  • p.Val14= Multiple submitters Pfeiffer syndrome
  • c.1081+16T>C Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.1081+20_1081+22del Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.1081+8C>G Single submitter Pfeiffer syndrome
  • c.1081+9T>C Single submitter Pfeiffer syndrome
  • c.1082-12G>A Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.1082-20C>T Single submitter Pfeiffer syndrome
  • c.1284+256del Single submitter
  • c.1285-16C>G Single submitter Pfeiffer syndrome
  • c.1285-17C>T Single submitter Pfeiffer syndrome
  • c.1285-20G>A Single submitter Pfeiffer syndrome
  • c.1285-5T>C Single submitter Pfeiffer syndrome
  • c.1285-8C>A Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.1285-8C>G Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.1430+9A>G Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.1430+9A>T Single submitter Pfeiffer syndrome
  • c.1431-10C>T Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.1431-19T>A Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.1431-20CT[2] Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.1431-6C>T Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.1431-7C>T Single submitter Pfeiffer syndrome
  • c.1552+12T>C Single submitter Pfeiffer syndrome
  • c.1552+19C>T Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.1552+8A>G Single submitter Pfeiffer syndrome
  • c.1553-14C>T Single submitter Pfeiffer syndrome
  • c.1553-16A>C Single submitter
  • c.1663+11dup Single submitter Pfeiffer syndrome
  • c.1663+20G>A Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.1663+341T>C Single submitter
  • c.1664-12C>T Single submitter
  • c.1664-17T>G Single submitter Pfeiffer syndrome
  • c.1664-18C>G Single submitter Pfeiffer syndrome
  • c.1664-18C>T Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.1664-7C>T Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.1854+14A>C Single submitter Pfeiffer syndrome
  • c.1854+17C>T Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.1854+9C>T Single submitter Pfeiffer syndrome
  • c.1855-24C>T Single submitter
  • c.1855-5C>T Single submitter Pfeiffer syndrome
  • c.1855-8T>C Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.1977+10G>A Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.1977+12C>G Single submitter Pfeiffer syndrome
  • c.1977+15G>A Single submitter Pfeiffer syndrome
  • c.1977+18C>T Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.1977+19G>A Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.1977+20C>T Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.1978-15C>T Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.1978-17C>T Single submitter Pfeiffer syndrome
  • c.2048+13T>C Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.2048+18A>G Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.2049-16C>G Single submitter Pfeiffer syndrome
  • c.2186+11G>A Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.2186+12_2186+14del Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.2186+17G>A Single submitter Pfeiffer syndrome
  • c.2186+18T>G Single submitter Pfeiffer syndrome
  • c.2186+20G>A Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.2186+8C>T Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.2186+9G>A Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.2187-15A>G Single submitter Pfeiffer syndrome
  • c.2187-16T>C Single submitter Pfeiffer syndrome
  • c.2187-18C>G Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.2187-19C>A Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.2187-4G>A Single submitter Pfeiffer syndrome
  • c.2187-7G>A Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.2292+12C>T Single submitter Pfeiffer syndrome
  • c.2292+13G>A Single submitter Pfeiffer syndrome
  • c.2292+13G>T Single submitter Pfeiffer syndrome
  • c.2292+16C>A Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.2292+9G>A Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.2293-10C>T Single submitter Pfeiffer syndrome
  • c.2293-12C>G Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.2293-12C>T Single submitter Pfeiffer syndrome
  • c.2293-14C>T Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.358+11A>G Single submitter Pfeiffer syndrome
  • c.358+18G>A Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.358+18G>T Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.358+19C>A Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.358+298C>T Single submitter
  • c.358+9C>A Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.359-18C>T Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.359-54G>A Single submitter
  • c.359-5C>G Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.359-9T>C Single submitter Pfeiffer syndrome
  • c.448+15C>G Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.449-4dup Single submitter Pfeiffer syndrome
  • c.449-8C>G Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.621+14C>A Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.621+17G>A Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.621+18C>A Single submitter Pfeiffer syndrome
  • c.621+18C>T Single submitter Pfeiffer syndrome
  • c.621+3A>G Single submitter
  • c.622-300T>C Single submitter
  • c.622-311G>A Single submitter
  • c.622-8C>T Single submitter
  • c.622-9del Single submitter Pfeiffer syndrome
  • c.745+10C>G Single submitter Pfeiffer syndrome
  • c.745+13del Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.745+20A>G Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.745+302A>C Single submitter
  • c.746-13C>T Single submitter Pfeiffer syndrome
  • c.746-14C>G Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.746-5C>G Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.91+16G>C Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.91+19G>T Single submitter Pfeiffer syndrome
  • c.91+20C>T Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.91+8G>C Single submitter
  • c.92-10361G>A Single submitter
  • c.92-10362C>G Single submitter
  • c.92-10400G>A Single submitter Inborn genetic diseases
  • c.92-10618C>T Single submitter
  • c.92-10628del Single submitter
  • c.92-13G>A Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.92-13G>T Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.92-19G>C Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.92-19G>T Single submitter Pfeiffer syndrome
  • c.92-20C>T Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.936+113C>T Single submitter
  • c.936+114G>A Single submitter
  • c.936+13C>T Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.936+21C>T Single submitter
  • c.936+22G>A Single submitter
  • c.936+57G>A Single submitter
  • c.936+7A>G Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.937-10T>C Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.937-11G>T Single submitter Pfeiffer syndrome
  • c.937-1214G>A Single submitter
  • c.937-15C>T Single submitter Pfeiffer syndrome
  • c.937-17T>C Single submitter Pfeiffer syndrome
  • c.937-314C>T Single submitter
  • c.937-4C>T Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • c.-88-1138T>G Single submitter
  • c.-88-1576C>T Single submitter
  • c.-88-2089C>A Single submitter
  • c.-88-3829C>T Single submitter
  • c.-88-3884_-88-3882del Single submitter
  • c.-88-3886G>A Single submitter
  • c.-88-3922A>C Single submitter
  • c.-88-4584A>G Single submitter
  • c.-88-4970T>G Single submitter
  • c.-88-4999A>G Single submitter
  • c.-89+1078G>T Single submitter
  • c.-89+1085dup Single submitter
  • c.-89+122C>G Single submitter
  • c.-89+1264C>T Single submitter
  • c.-89+1893T>C Single submitter
  • c.-89+1907del Single submitter
  • c.-89+214G>A Single submitter
  • c.-89+2528C>T Single submitter
  • c.-89+3413A>G Single submitter
  • c.-89+3493A>C Single submitter
  • c.-89+3827T>C Single submitter
  • c.-89+3910A>G Single submitter
  • c.-89+4354G>A Single submitter
  • c.-89+5001A>G Single submitter
  • c.*1053G>A Single submitter
  • c.*1056G>A Single submitter
  • c.*1822A>C Single submitter osteoglophonic dysplasia
  • c.*220T>C Single submitter
  • p.Ala121= Single submitter Pfeiffer syndrome
  • p.Ala167= Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Ala354= Single submitter Pfeiffer syndrome
  • p.Ala413= Single submitter Pfeiffer syndrome
  • p.Ala615= Single submitter Pfeiffer syndrome
  • p.Ala625= Single submitter Pfeiffer syndrome
  • p.Ala74= Single submitter Pfeiffer syndrome
  • p.Arg424= Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Arg54= Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Arg577= Single submitter Pfeiffer syndrome
  • p.Asn117= Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Asn438= Single submitter
  • p.Asn586= Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Asn590= Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Asn628= Single submitter
  • p.Asp110= Single submitter Pfeiffer syndrome
  • p.Asp335= Single submitter Pfeiffer syndrome
  • p.Asp432= Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Asp49= Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Asp503= Single submitter Pfeiffer syndrome
  • p.Asp682= Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Asp720= Single submitter Pfeiffer syndrome
  • p.Asp735= Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Asp753= Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Cys178= Single submitter Pfeiffer syndrome
  • p.Cys389= Single submitter Pfeiffer syndrome
  • p.Gln491= Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Glu137= Single submitter Pfeiffer syndrome
  • p.Glu562= Single submitter Pfeiffer syndrome
  • p.Gly108= Single submitter Pfeiffer syndrome
  • p.Gly182= Single submitter Pfeiffer syndrome
  • p.Gly237= Single submitter Pfeiffer syndrome
  • p.Gly297= Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Gly315= Single submitter
  • p.Gly337= Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Gly348= Single submitter Pfeiffer syndrome
  • p.Gly453= Single submitter Pfeiffer syndrome
  • p.Gly48= Single submitter Pfeiffer syndrome
  • p.Gly481= Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Gly539= Single submitter Pfeiffer syndrome
  • p.Gly687= Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.His241= Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.His415= Single submitter Pfeiffer syndrome
  • p.His810= Single submitter Pfeiffer syndrome
  • p.Ile256= Single submitter
  • p.Ile498= Single submitter Pfeiffer syndrome
  • p.Ile498Val Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Ile560= Single submitter Pfeiffer syndrome
  • p.Ile648= Single submitter Pfeiffer syndrome
  • p.Ile651= Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Leu13= Single submitter Pfeiffer syndrome
  • p.Leu269= Single submitter Pfeiffer syndrome
  • p.Leu290= Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Leu359= Single submitter Pfeiffer syndrome
  • p.Leu423= Single submitter Pfeiffer syndrome
  • p.Leu442Phe Single submitter hypogonadotropic hypogonadism 2 with or without anosmia ⚠
  • p.Leu443= Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Leu51= Single submitter
  • p.Leu581= Single submitter Pfeiffer syndrome
  • p.Leu644= Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Leu689= Single submitter Pfeiffer syndrome
  • p.Leu696= Single submitter Pfeiffer syndrome
  • p.Leu750= Single submitter Pfeiffer syndrome
  • p.Leu769= Single submitter
  • p.Lys172= Single submitter Pfeiffer syndrome
  • p.Lys175= Single submitter Pfeiffer syndrome
  • p.Lys398= Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Lys416= Single submitter Pfeiffer syndrome
  • p.Lys721= Single submitter Pfeiffer syndrome
  • p.Phe114= Single submitter Pfeiffer syndrome
  • p.Phe9= Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Pro150= Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Pro199= Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Pro23= Single submitter
  • p.Pro283= Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Pro366Ser Single submitter Pfeiffer syndrome ⚠
  • p.Pro455Ser Single submitter Pfeiffer syndrome ⚠
  • p.Pro47= Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Pro483= Single submitter Pfeiffer syndrome
  • p.Pro811= Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Pro93= Single submitter Pfeiffer syndrome
  • p.Ser104Asn Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Ser105= Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Ser107= Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Ser157= Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Ser238= Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Ser371= Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Ser401= Single submitter Pfeiffer syndrome
  • p.Ser450= Single submitter Pfeiffer syndrome
  • p.Ser452= Single submitter hypogonadotropic hypogonadism 2 with or without anosmia
  • p.Ser588= Single submitter hypogonadotropic hypogonadism 2 with or without anosmia

Uncertain significance 515

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