FAM20C — 554 ClinVar variants

All ClinVar germline FAM20C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 173 flagged for review →

19 Pathogenic · 1 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 16 Conflicting · 81 Benign · 19 Benign/Likely benign · 221 Likely benign · 190 Uncertain significance

Full FAM20C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 173

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 7

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

FAM20C p.Ala205Val Conflicting Single submitter
Inborn genetic diseases
FAM20C p.Ala245Thr Conflicting Single submitter
Inborn genetic diseases
FAM20C p.Asn84Lys Conflicting Single submitter
Inborn genetic diseases
FAM20C p.Pro203Leu Conflicting Single submitter
Inborn genetic diseases
FAM20C p.Pro496Leu Conflicting Single submitter
lethal osteosclerotic bone dysplasia
FAM20C p.Val19Leu Conflicting Single submitter
Inborn genetic diseases
FAM20C p.Val552Ile Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 127

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

FAM20C p.Ala135Thr Uncertain significance Multiple submitters
Inborn genetic diseases
FAM20C p.Ala581Thr Uncertain significance Multiple submitters
Inborn genetic diseases
FAM20C p.Arg324Cys Uncertain significance Multiple submitters
Inborn genetic diseases
FAM20C p.Arg404Leu Uncertain significance Multiple submitters
Inborn genetic diseases
FAM20C p.Arg459Cys Uncertain significance Multiple submitters
lethal osteosclerotic bone dysplasia
FAM20C p.Arg548Gln Uncertain significance Multiple submitters
Inborn genetic diseases
FAM20C p.Asn564His Uncertain significance Multiple submitters
Inborn genetic diseases
FAM20C p.Asp394Glu Uncertain significance Multiple submitters
Inborn genetic diseases
FAM20C p.Asp436Asn Uncertain significance Multiple submitters
Inborn genetic diseases
FAM20C p.Gln62Leu Uncertain significance Multiple submitters
Inborn genetic diseases
FAM20C p.Glu292Lys Uncertain significance Multiple submitters
Inborn genetic diseases
FAM20C p.Gly127Ser Uncertain significance Multiple submitters
Inborn genetic diseases
FAM20C p.Gly153Asp Uncertain significance Multiple submitters
lethal osteosclerotic bone dysplasia
FAM20C p.Gly266Trp Uncertain significance Multiple submitters
Inborn genetic diseases
FAM20C p.Leu102Ile Uncertain significance Multiple submitters
Inborn genetic diseases
FAM20C p.Leu550Ile Uncertain significance Multiple submitters
Inborn genetic diseases
FAM20C p.Leu574Val Uncertain significance Multiple submitters
Inborn genetic diseases
FAM20C p.Lys416Thr Uncertain significance Multiple submitters
Inborn genetic diseases
FAM20C p.Pro116Leu Uncertain significance Multiple submitters
Inborn genetic diseases
FAM20C p.Ser100Thr Uncertain significance Multiple submitters
Inborn genetic diseases
FAM20C p.Ser188Arg Uncertain significance Multiple submitters
Inborn genetic diseases
FAM20C p.Ser214Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
FAM20C p.Thr275Asn Uncertain significance Multiple submitters
Inborn genetic diseases
FAM20C p.Trp202Gly Uncertain significance Multiple submitters
Inborn genetic diseases
FAM20C p.Val11Met Uncertain significance Multiple submitters
Inborn genetic diseases
FAM20C p.Val174Phe Uncertain significance Multiple submitters
Inborn genetic diseases
FAM20C p.Val220Met Uncertain significance Multiple submitters
Inborn genetic diseases
FAM20C p.Val553Met Uncertain significance Multiple submitters
Inborn genetic diseases
FAM20C p.Val557Ile Uncertain significance Multiple submitters
Inborn genetic diseases
FAM20C p.Val569Met Uncertain significance Multiple submitters
FAM20C p.Ala120Ser Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Ala120Val Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Ala162Val Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Ala173Thr Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Ala26Pro Uncertain significance Single submitter
FAM20C p.Ala376Thr Uncertain significance Single submitter
FAM20C p.Ala49Thr Uncertain significance Single submitter
FAM20C p.Ala52Val Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Ala53Ser Uncertain significance Single submitter
FAM20C p.Ala556Thr Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Ala57Pro Uncertain significance Single submitter
FAM20C p.Ala61Thr Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Ala73Ser Uncertain significance Single submitter
FAM20C p.Ala77Thr Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Arg191Ser Uncertain significance Single submitter
FAM20C p.Arg32Ser Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Arg345Gln Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Arg409His Uncertain significance Single submitter
FAM20C p.Arg414Cys Uncertain significance Single submitter
FAM20C p.Arg459Gly Uncertain significance Single submitter
FAM20C p.Arg459His Uncertain significance Single submitter
FAM20C p.Arg530Trp Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Arg548Trp Uncertain significance Single submitter
FAM20C p.Arg549Gln Uncertain significance Single submitter
FAM20C p.Arg549Trp Uncertain significance Single submitter
lethal osteosclerotic bone dysplasia
FAM20C p.Arg551Leu Uncertain significance Single submitter
FAM20C p.Arg558Gln Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Arg579Ile Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Arg584Lys Uncertain significance Single submitter
FAM20C p.Asn185Asp Uncertain significance Single submitter
FAM20C p.Asn185Ile Uncertain significance Single submitter
FAM20C p.Asn185Ser Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Asn234His Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Asn84Ser Uncertain significance Single submitter
FAM20C p.Asp133Asn Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Asp157Glu Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Asp322Gly Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Asp489Asn Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Asp532Asn Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Gln289Arg Uncertain significance Single submitter
FAM20C p.Gln512His Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Glu115Asp Uncertain significance Single submitter
FAM20C p.Glu115Lys Uncertain significance Single submitter
FAM20C p.Glu179Lys Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Glu217Gln Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Glu34Gly Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Glu385Gln Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Glu490Lys Uncertain significance Single submitter
FAM20C p.Glu577Asp Uncertain significance Single submitter
lethal osteosclerotic bone dysplasia
FAM20C p.Gly206Val Uncertain significance Single submitter
FAM20C p.Gly267Cys Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Gly280Arg Uncertain significance Single submitter
lethal osteosclerotic bone dysplasia
FAM20C p.Gly469Trp Uncertain significance Single submitter
FAM20C p.Gly68Glu Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.His167Asp Uncertain significance Single submitter
FAM20C p.His204Arg Uncertain significance Single submitter
FAM20C p.His204Tyr Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.His439Tyr Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.His460Tyr Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.His567Tyr Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Ile340Val Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Ile361Val Uncertain significance Single submitter
FAM20C p.Ile475Val Uncertain significance Single submitter
FAM20C p.Leu107Gln Uncertain significance Single submitter
FAM20C p.Leu140Pro Uncertain significance Single submitter
FAM20C p.Leu14Met Uncertain significance Single submitter
FAM20C p.Leu169Pro Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Leu453Phe Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Leu566Pro Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Met333Val Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Phe452Leu Uncertain significance Single submitter
FAM20C p.Pro111Arg Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Pro116Arg Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Pro145Leu Uncertain significance Single submitter
FAM20C p.Pro151Ser Uncertain significance Single submitter
FAM20C p.Pro154His Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Pro175Leu Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Pro176Arg Uncertain significance Single submitter
FAM20C p.Pro200Leu Uncertain significance Single submitter
FAM20C p.Pro51Leu Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Pro67Arg Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Pro70Ser Uncertain significance Single submitter
FAM20C p.Ser148Phe Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Ser193Arg Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Ser568Gly Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Ser582Leu Uncertain significance Single submitter
FAM20C p.Thr268Met Uncertain significance Single submitter
FAM20C p.Thr337Ser Uncertain significance Single submitter
FAM20C p.Thr507Pro Uncertain significance Single submitter
FAM20C p.Tyr370Cys Uncertain significance Single submitter
FAM20C p.Val329Met Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Val343Ile Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Val444Ile Uncertain significance Single submitter
lethal osteosclerotic bone dysplasia
FAM20C p.Val534Leu Uncertain significance Single submitter
FAM20C p.Val534Met Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Glu211Lys Uncertain significance No assertion criteria
FAM20C p.Thr472Met Uncertain significance No assertion criteria

Predictors split 39

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

FAM20C p.Arg324His Uncertain significance Multiple submitters
Inborn genetic diseases
FAM20C p.Arg551Cys Uncertain significance Multiple submitters
Inborn genetic diseases
FAM20C p.Asn225Ser Uncertain significance Multiple submitters
Inborn genetic diseases
FAM20C p.Asp573Asn Benign/Likely benign Multiple submitters
FAM20C p.Glu247Lys Uncertain significance Multiple submitters
FAM20C p.Glu366Lys Uncertain significance Multiple submitters
Inborn genetic diseases
FAM20C p.Glu527Lys Uncertain significance Multiple submitters
Inborn genetic diseases
FAM20C p.Phe323Leu Uncertain significance Multiple submitters
Inborn genetic diseases
FAM20C p.Pro433Leu Uncertain significance Multiple submitters
Inborn genetic diseases
FAM20C p.Ala389Val Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Arg163Met Benign Single submitter
FAM20C p.Arg235Gln Uncertain significance Single submitter
FAM20C p.Arg341Trp Uncertain significance Single submitter
FAM20C p.Arg530Pro Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Glu418Lys Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Glu427Lys Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Gly266Arg Uncertain significance Single submitter
lethal osteosclerotic bone dysplasia
FAM20C p.His488Tyr Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Ile233Leu Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Ile246Met Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Ile246Thr Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Ile474Thr Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Leu12Phe Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Leu513Ile Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Met447Ile Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Met447Val Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Phe165Leu Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Pro168Arg Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Pro244Leu Conflicting Single submitter
lethal osteosclerotic bone dysplasia
FAM20C p.Pro541Leu Likely benign Single submitter
Inborn genetic diseases
FAM20C p.Ser265Leu Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Ser410Thr Conflicting Single submitter
Hypophosphataemia or rickets
FAM20C p.Ser487Leu Uncertain significance Single submitter
FAM20C p.Thr290Met Uncertain significance Single submitter
FAM20C p.Thr448Met Uncertain significance Single submitter
FAM20C p.Tyr223Cys Uncertain significance Single submitter
FAM20C p.Val334Ile Uncertain significance Single submitter
Inborn genetic diseases
FAM20C p.Val495Gly Uncertain significance Single submitter
FAM20C p.Val561Glu Uncertain significance Single submitter

All FAM20C variants

Pathogenic 19

p.Ser159fs Multiple submitters lethal osteosclerotic bone dysplasia
p.Gln431Ter Single submitter
p.Glu166Ter Single submitter
p.Glu43fs Single submitter
p.Gly482Glu Single submitter lethal osteosclerotic bone dysplasia
p.Lys338Ter Single submitter
p.Ser104fs Single submitter lethal osteosclerotic bone dysplasia
p.Tyr236Ter Single submitter
p.Val55fs Single submitter
c.1364-2A>G No assertion criteria lethal osteosclerotic bone dysplasia
c.1446-1G>A No assertion criteria lethal osteosclerotic bone dysplasia
c.956+5G>C No assertion criteria lethal osteosclerotic bone dysplasia
c.957-3C>G No assertion criteria lethal osteosclerotic bone dysplasia
p.Gly365Arg No assertion criteria lethal osteosclerotic bone dysplasia
p.Gly365Asp No assertion criteria lethal osteosclerotic bone dysplasia
p.Gly379Glu No assertion criteria lethal osteosclerotic bone dysplasia
p.Ile246Asn No assertion criteria lethal osteosclerotic bone dysplasia
p.Leu388Arg No assertion criteria lethal osteosclerotic bone dysplasia
p.Pro328Ser No assertion criteria lethal osteosclerotic bone dysplasia

Pathogenic/Likely pathogenic 1

p.Gly379Arg Multiple submitters FAM20C-related disorder

Likely pathogenic 7

p.Asn309delinsArgTer Single submitter ketotic hypoglycaemia
p.Asp451Asn Single submitter lethal osteosclerotic bone dysplasia
p.Cys426Arg Single submitter lethal osteosclerotic bone dysplasia
p.Met336Arg Single submitter
p.Val444Gly Single submitter lethal osteosclerotic bone dysplasia
p.Arg409Cys No assertion criteria cerebral cortical dysplasia
p.Pro152fs No assertion criteria FAM20C-related disorder

Conflicting classifications of pathogenicity 16

c.1072+53_1072+88del Single submitter lethal osteosclerotic bone dysplasia
p.Ala205Val Single submitter Inborn genetic diseases ⚠
p.Ala245Thr Single submitter Inborn genetic diseases ⚠
p.Asn84Lys Single submitter Inborn genetic diseases ⚠
p.Ile384= Single submitter
p.Pro200= Single submitter lethal osteosclerotic bone dysplasia
p.Pro203Leu Single submitter Inborn genetic diseases ⚠
p.Pro244Leu Single submitter lethal osteosclerotic bone dysplasia ⚠
p.Pro433= Single submitter
p.Pro496Leu Single submitter lethal osteosclerotic bone dysplasia ⚠
p.Pro58= Single submitter
p.Ser265= Single submitter
p.Ser410Thr Single submitter Hypophosphataemia or rickets ⚠
p.Tyr305= Single submitter
p.Val19Leu Single submitter Inborn genetic diseases ⚠
p.Val552Ile Single submitter Inborn genetic diseases ⚠

Benign 81

c.1072+23A>G Multiple submitters lethal osteosclerotic bone dysplasia
c.1254-63T>C Multiple submitters lethal osteosclerotic bone dysplasia
c.1363+10G>A Multiple submitters lethal osteosclerotic bone dysplasia
c.1506-55G>A Multiple submitters lethal osteosclerotic bone dysplasia
c.956+61A>G Multiple submitters lethal osteosclerotic bone dysplasia
c.*30G>A Multiple submitters lethal osteosclerotic bone dysplasia
c.*41C>G Multiple submitters lethal osteosclerotic bone dysplasia
p.Ala580= Multiple submitters lethal osteosclerotic bone dysplasia
p.Ala583= Multiple submitters lethal osteosclerotic bone dysplasia
p.Arg558Trp Multiple submitters
p.Asn564Asp Multiple submitters lethal osteosclerotic bone dysplasia
p.His375= Multiple submitters
p.His488= Multiple submitters
p.Phe450= Multiple submitters
p.Thr295= Multiple submitters lethal osteosclerotic bone dysplasia
p.Thr472= Multiple submitters
p.Val16Leu Multiple submitters
p.Val553= Multiple submitters lethal osteosclerotic bone dysplasia
c.1072+105G>C Single submitter
c.1072+178T>C Single submitter
c.1072+17del Single submitter
c.1072+272C>G Single submitter
c.1072+274C>T Single submitter
c.1073-191C>A Single submitter
c.1073-285A>C Single submitter
c.1073-287A>C Single submitter
c.1073-46C>T Single submitter
c.1253+156T>C Single submitter
c.1253+20dup Single submitter
c.1253+20G>A Single submitter
c.1253+277C>T Single submitter
c.1253+306C>T Single submitter
c.1254-118G>A Single submitter
c.1254-119C>T Single submitter
c.1254-127A>G Single submitter
c.1254-132G>A Single submitter
c.1254-145A>C Single submitter
c.1254-193A>G Single submitter
c.1254-277T>G Single submitter
c.1445+186G>A Single submitter
c.1445+53C>A Single submitter
c.1446-179_1446-144del Single submitter
c.1446-193A>G Single submitter
c.1446-215T>C Single submitter
c.1446-232G>A Single submitter
c.1446-233T>C Single submitter
c.1446-236G>A Single submitter
c.1446-247A>G Single submitter
c.1446-99C>T Single submitter
c.1505+136T>C Single submitter
c.1505+173C>A Single submitter
c.1505+201G>C Single submitter
c.1505+223C>T Single submitter
c.1505+240T>C Single submitter
c.1506-138TC[5] Single submitter
c.1506-13del Single submitter
c.1506-247T>C Single submitter
c.1506-263_1506-260dup Single submitter
c.1506-45A>G Single submitter
c.605+277C>T Single submitter
c.606-53A>G Single submitter
c.863+259A>G Single submitter
c.864-187T>G Single submitter
c.864-267A>C Single submitter
c.864-283T>C Single submitter
c.956+161G>C Single submitter
c.956+265C>T Single submitter
c.956+30_956+31insACAGGTGAGCCCTTCCTTCCTCCCTCCATCCGTG Single submitter
c.956+59T>C Single submitter
c.957-107G>C Single submitter
c.957-112G>C Single submitter
c.957-113_957-112insCAGCCCCACAGAGCACAGACCCTCCCCTGCCCCGTTCTTATTTGGAGGCAGGGAAACAGAGGCCCGCT Single submitter
c.957-179T>C Single submitter
c.-109C>T Single submitter
c.-400G>A Single submitter
c.*206G>A Single submitter
c.*231G>A Single submitter
c.*235G>A Single submitter
p.Arg163Met Single submitter ⚠
p.Cys560= Single submitter
p.Tyr364= Single submitter

Benign/Likely benign 19

c.1072+12C>T Multiple submitters
c.1253+19G>A Multiple submitters
c.1445+15G>A Multiple submitters
c.1505+13C>A Multiple submitters
c.1505+20C>T Multiple submitters lethal osteosclerotic bone dysplasia
c.784+19A>T Multiple submitters lethal osteosclerotic bone dysplasia
c.953_956+30dup Multiple submitters lethal osteosclerotic bone dysplasia
p.Ala583Val Multiple submitters lethal osteosclerotic bone dysplasia
p.Arg551His Multiple submitters
p.Asn359= Multiple submitters
p.Asp342= Multiple submitters
p.Asp573Asn Multiple submitters ⚠
p.Gly216Arg Multiple submitters
p.His412= Multiple submitters
p.Pro406= Multiple submitters
p.Pro67His Multiple submitters Inborn genetic diseases
p.Ser487= Multiple submitters
p.Tyr435= Multiple submitters
p.Val561Met Multiple submitters lethal osteosclerotic bone dysplasia

Likely benign 221

c.1073-19G>A Multiple submitters
c.1073-81C>A Multiple submitters
c.1253+20G>C Multiple submitters
c.1364-4G>A Multiple submitters
c.1364-5C>T Multiple submitters
c.1446-98G>A Multiple submitters
c.605+175C>T Multiple submitters
c.863+10G>A Multiple submitters
c.863+17dup Multiple submitters
c.863+82C>T Multiple submitters
c.956+119G>A Multiple submitters
c.957-123A>T Multiple submitters
p.Ala158= Multiple submitters
p.Ala526= Multiple submitters
p.Ala580Val Multiple submitters
p.Arg551= Multiple submitters
p.Arg89= Multiple submitters
p.Arg8Gln Multiple submitters Inborn genetic diseases
p.Asp142= Multiple submitters
p.Leu160= Multiple submitters
p.Lys2= Multiple submitters
p.Lys485= Multiple submitters
p.Pro328= Multiple submitters
p.Ser568= Multiple submitters
p.Thr448= Multiple submitters
p.Tyr279= Multiple submitters
c.1072+101T>C Single submitter
c.1072+12C>G Single submitter
c.1072+13G>A Single submitter
c.1072+158G>A Single submitter
c.1072+17G>A Single submitter
c.1073-4C>A Single submitter
c.1253+11G>T Single submitter
c.1253+12G>C Single submitter
c.1253+13C>T Single submitter
c.1253+14C>T Single submitter
c.1253+15G>A Single submitter
c.1253+15G>C Single submitter
c.1253+16G>T Single submitter
c.1253+17G>A Single submitter
c.1253+8C>T Single submitter
c.1253+9G>A Single submitter
c.1254-15G>A Single submitter
c.1254-15G>T Single submitter
c.1254-16C>T Single submitter
c.1254-4G>A Single submitter
c.1254-5C>T Single submitter
c.1254-6C>T Single submitter
c.1363+19C>T Single submitter
c.1363+20G>A Single submitter
c.1363+9C>T Single submitter
c.1364-10C>T Single submitter
c.1364-14G>A Single submitter
c.1364-16C>T Single submitter
c.1445+11C>T Single submitter
c.1445+14C>T Single submitter
c.1445+15G>C Single submitter
c.1445+18C>T Single submitter
c.1446-195_1446-193del Single submitter
c.1446-199_1446-198insCA Single submitter
c.1446-201_1446-200insA Single submitter
c.1446-211G>A Single submitter
c.1446-214G>C Single submitter
c.1446-215del Single submitter
c.1446-234G>C Single submitter
c.1446-235G>C Single submitter
c.1505+14C>T Single submitter
c.1505+15G>A Single submitter
c.1505+174G>A Single submitter
c.1505+17A>G Single submitter
c.1505+186C>T Single submitter
c.1506-13C>T Single submitter
c.1506-15C>T Single submitter
c.1506-16C>A Single submitter
c.1506-226TCTG[2] Single submitter
c.1506-4C>A Single submitter
c.1506-5C>T Single submitter
c.1506-8C>T Single submitter
c.605+11G>A Single submitter
c.605+11G>T Single submitter
c.605+19G>T Single submitter
c.606-14G>A Single submitter
c.606-155C>T Single submitter
c.606-4G>T Single submitter
c.606-6C>T Single submitter
c.606-7C>T Single submitter
c.784+10dup Single submitter
c.784+11T>C Single submitter
c.784+11T>G Single submitter
c.785-10C>T Single submitter
c.785-19C>A Single submitter
c.785-6C>T Single submitter
c.863+13G>T Single submitter
c.863+20G>A Single submitter
c.863+9C>T Single submitter
c.864-10G>C Single submitter
c.864-12T>C Single submitter
c.864-15G>C Single submitter
c.864-4T>C Single submitter
c.956+189T>C Single submitter
c.956+20C>T Single submitter
c.956+30_956+31insACAGGTGAGCCCTTCCTTTCTCCCTCCATCCGCG Single submitter
c.956+30_956+31insACAGGTGAGCTCTTCCTTCCTCCCTCCATCCGCG Single submitter
c.956+66G>C Single submitter
c.957-11T>G Single submitter
c.957-12G>A Single submitter
c.957-12G>C Single submitter
c.957-13C>T Single submitter
c.957-15C>T Single submitter
c.957-16G>A Single submitter
c.957-16G>T Single submitter
c.957-17C>T Single submitter
c.957-44G>C Single submitter
c.957-5G>A Single submitter
c.957-5G>C Single submitter
c.957-8C>T Single submitter
p.Ala117= Single submitter
p.Ala173= Single submitter
p.Ala205= Single submitter
p.Ala218= Single submitter
p.Ala218Val Single submitter
p.Ala219= Single submitter
p.Ala282= Single submitter
p.Ala310= Single submitter
p.Ala313= Single submitter
p.Ala330= Single submitter
p.Ala398= Single submitter
p.Ala417= Single submitter
p.Ala49= Single submitter
p.Ala556= Single submitter
p.Ala57= Single submitter
p.Ala581= Single submitter
p.Ala77= Single submitter
p.Arg124= Single submitter
p.Arg141= Single submitter
p.Arg257= Single submitter
p.Arg404= Single submitter
p.Arg8= Single submitter
p.Asn101= Single submitter
p.Asn187= Single submitter
p.Asn335= Single submitter
p.Asn470= Single submitter
p.Asn564= Single submitter
p.Asp252= Single submitter
p.Asp298= Single submitter
p.Asp443= Single submitter
p.Asp572= Single submitter
p.Asp79= Single submitter
p.Cys378= Single submitter
p.Cys426= Single submitter
p.Gln512= Single submitter
p.Glu292= Single submitter
p.Gly156= Single submitter
p.Gly379= Single submitter
p.Gly65= Single submitter
p.Gly78= Single submitter
p.His136= Single submitter
p.His167= Single submitter
p.His251= Single submitter
p.His308= Single submitter
p.His578= Single submitter
p.Ile246= Single submitter
p.Ile320= Single submitter
p.Ile441= Single submitter
p.Ile474= Single submitter
p.Leu102= Single submitter
p.Leu110= Single submitter
p.Leu12= Single submitter
p.Leu129= Single submitter
p.Leu129Arg Single submitter Inborn genetic diseases
p.Leu139= Single submitter
p.Leu14= Single submitter
p.Leu161= Single submitter
p.Leu18= Single submitter
p.Leu183= Single submitter
p.Leu227= Single submitter
p.Leu238= Single submitter
p.Leu253= Single submitter
p.Leu27= Single submitter
p.Leu317= Single submitter
p.Leu395= Single submitter
p.Leu546= Single submitter
p.Leu566= Single submitter
p.Phe284= Single submitter
p.Phe302= Single submitter
p.Pro116= Single submitter
p.Pro145= Single submitter
p.Pro151= Single submitter
p.Pro152= Single submitter
p.Pro168= Single submitter
p.Pro175= Single submitter
p.Pro194= Single submitter
p.Pro215= Single submitter
p.Pro244= Single submitter
p.Pro393= Single submitter
p.Pro496= Single submitter
p.Pro536= Single submitter
p.Pro541= Single submitter
p.Pro541Leu Single submitter Inborn genetic diseases ⚠
p.Pro67= Single submitter
p.Ser148= Single submitter
p.Ser214= Single submitter
p.Ser222= Single submitter
p.Ser387= Single submitter
p.Ser75= Single submitter
p.Ser99= Single submitter
p.Thr268= Single submitter
p.Thr290= Single submitter
p.Thr402= Single submitter
p.Tyr236= Single submitter
p.Tyr369= Single submitter
p.Tyr462= Single submitter
p.Val19= Single submitter
p.Val343= Single submitter
p.Val429= Single submitter
p.Val534= Single submitter
p.Val552= Single submitter
p.Val561= Single submitter
p.Val63= Single submitter
c.956+31C>G No assertion criteria FAM20C-related disorder
p.Ser582= No assertion criteria FAM20C-related disorder

Uncertain significance 190

p.Ala135Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala581Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg324Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg324His Multiple submitters Inborn genetic diseases ⚠
p.Arg404Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg459Cys Multiple submitters lethal osteosclerotic bone dysplasia ⚠
p.Arg548Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg551Cys Multiple submitters Inborn genetic diseases ⚠
p.Asn225Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn564His Multiple submitters Inborn genetic diseases ⚠
p.Asp394Asn Multiple submitters Inborn genetic diseases
p.Asp394Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp436Asn Multiple submitters Inborn genetic diseases ⚠
p.Gln62Leu Multiple submitters Inborn genetic diseases ⚠
p.Glu247Lys Multiple submitters ⚠
p.Glu292Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu366Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu527Lys Multiple submitters Inborn genetic diseases ⚠
p.Gly127Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly153Asp Multiple submitters lethal osteosclerotic bone dysplasia ⚠
p.Gly266Trp Multiple submitters Inborn genetic diseases ⚠
p.Ile475Met Multiple submitters Inborn genetic diseases
p.Leu102Ile Multiple submitters Inborn genetic diseases ⚠
p.Leu550Ile Multiple submitters Inborn genetic diseases ⚠
p.Leu574Val Multiple submitters Inborn genetic diseases ⚠
p.Lys416Thr Multiple submitters Inborn genetic diseases ⚠
p.Phe323Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro116Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro433Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser100Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser188Arg Multiple submitters Inborn genetic diseases ⚠
p.Ser214Tyr Multiple submitters Inborn genetic diseases ⚠
p.Thr275Asn Multiple submitters Inborn genetic diseases ⚠
p.Trp202Gly Multiple submitters Inborn genetic diseases ⚠
p.Val11Met Multiple submitters Inborn genetic diseases ⚠
p.Val174Phe Multiple submitters Inborn genetic diseases ⚠
p.Val220Met Multiple submitters Inborn genetic diseases ⚠
p.Val553Met Multiple submitters Inborn genetic diseases ⚠
p.Val557Ile Multiple submitters Inborn genetic diseases ⚠
p.Val569Met Multiple submitters ⚠
c.1073-3C>T Single submitter
c.1254-12G>A Single submitter
c.1363+4C>T Single submitter
c.1363+5G>A Single submitter
c.1364-4_1364-3delinsTT Single submitter
c.1505+1G>T Single submitter lethal osteosclerotic bone dysplasia
c.1505+4C>T Single submitter
c.1505+5A>G Single submitter
c.956+28_956+29insTGACAGGTGAGCCCTTCCTTCCTCCCTCCATCCG Single submitter
p.Ala120Ser Single submitter Inborn genetic diseases ⚠
p.Ala120Val Single submitter Inborn genetic diseases ⚠
p.Ala162Val Single submitter Inborn genetic diseases ⚠
p.Ala173Thr Single submitter Inborn genetic diseases ⚠
p.Ala26Pro Single submitter ⚠
p.Ala376Thr Single submitter ⚠
p.Ala389Val Single submitter Inborn genetic diseases ⚠
p.Ala49Thr Single submitter ⚠
p.Ala52Val Single submitter Inborn genetic diseases ⚠
p.Ala53Ser Single submitter ⚠
p.Ala556Thr Single submitter Inborn genetic diseases ⚠
p.Ala57Pro Single submitter ⚠
p.Ala61Thr Single submitter Inborn genetic diseases ⚠
p.Ala73Ser Single submitter ⚠
p.Ala77Thr Single submitter Inborn genetic diseases ⚠
p.Arg146_Pro154del Single submitter
p.Arg191Ser Single submitter ⚠
p.Arg235Gln Single submitter ⚠
p.Arg32Ser Single submitter Inborn genetic diseases ⚠
p.Arg341Trp Single submitter ⚠
p.Arg345Gln Single submitter Inborn genetic diseases ⚠
p.Arg409His Single submitter ⚠
p.Arg414Cys Single submitter ⚠
p.Arg459Gly Single submitter ⚠
p.Arg459His Single submitter ⚠
p.Arg530Pro Single submitter Inborn genetic diseases ⚠
p.Arg530Trp Single submitter Inborn genetic diseases ⚠
p.Arg548Trp Single submitter ⚠
p.Arg549Gln Single submitter ⚠
p.Arg549Trp Single submitter lethal osteosclerotic bone dysplasia ⚠
p.Arg551Leu Single submitter ⚠
p.Arg558Gln Single submitter Inborn genetic diseases ⚠
p.Arg579Ile Single submitter Inborn genetic diseases ⚠
p.Arg584Lys Single submitter ⚠
p.Asn185Asp Single submitter ⚠
p.Asn185Ile Single submitter ⚠
p.Asn185Ser Single submitter Inborn genetic diseases ⚠
p.Asn234His Single submitter Inborn genetic diseases ⚠
p.Asn243Ile Single submitter Inborn genetic diseases
p.Asn84Ser Single submitter ⚠
p.Asp133Asn Single submitter Inborn genetic diseases ⚠
p.Asp157Glu Single submitter Inborn genetic diseases ⚠
p.Asp252Asn Single submitter
p.Asp322Gly Single submitter Inborn genetic diseases ⚠
p.Asp443Asn Single submitter
p.Asp489Asn Single submitter Inborn genetic diseases ⚠
p.Asp532Asn Single submitter Inborn genetic diseases ⚠
p.Gln289Arg Single submitter ⚠
p.Gln512His Single submitter Inborn genetic diseases ⚠
p.Glu108Leu Single submitter
p.Glu108Val Single submitter Inborn genetic diseases
p.Glu115Asp Single submitter ⚠
p.Glu115Lys Single submitter ⚠
p.Glu118_Arg119insProAlaGlu Single submitter
p.Glu179Lys Single submitter Inborn genetic diseases ⚠
p.Glu217Gln Single submitter Inborn genetic diseases ⚠
p.Glu34Gly Single submitter Inborn genetic diseases ⚠
p.Glu34Val Single submitter Hypophosphataemia or rickets
p.Glu385Gln Single submitter Inborn genetic diseases ⚠
p.Glu418Lys Single submitter Inborn genetic diseases ⚠
p.Glu427Lys Single submitter Inborn genetic diseases ⚠
p.Glu490Lys Single submitter ⚠
p.Glu577Asp Single submitter lethal osteosclerotic bone dysplasia ⚠
p.Gly206Val Single submitter ⚠
p.Gly266Arg Single submitter lethal osteosclerotic bone dysplasia ⚠
p.Gly267Cys Single submitter Inborn genetic diseases ⚠
p.Gly280Arg Single submitter lethal osteosclerotic bone dysplasia ⚠
p.Gly469Trp Single submitter ⚠
p.Gly68Glu Single submitter Inborn genetic diseases ⚠
p.His167Asp Single submitter ⚠
p.His204Arg Single submitter ⚠
p.His204Tyr Single submitter Inborn genetic diseases ⚠
p.His439Tyr Single submitter Inborn genetic diseases ⚠
p.His460Tyr Single submitter Inborn genetic diseases ⚠
p.His488Tyr Single submitter Inborn genetic diseases ⚠
p.His567Tyr Single submitter Inborn genetic diseases ⚠
p.Ile233Leu Single submitter Inborn genetic diseases ⚠
p.Ile246Met Single submitter Inborn genetic diseases ⚠
p.Ile246Thr Single submitter Inborn genetic diseases ⚠
p.Ile340Val Single submitter Inborn genetic diseases ⚠
p.Ile361Val Single submitter ⚠
p.Ile474Thr Single submitter Inborn genetic diseases ⚠
p.Ile475Val Single submitter ⚠
p.Leu107Gln Single submitter ⚠
p.Leu12Phe Single submitter Inborn genetic diseases ⚠
p.Leu140Pro Single submitter ⚠
p.Leu14Met Single submitter ⚠
p.Leu169Pro Single submitter Inborn genetic diseases ⚠
p.Leu453Phe Single submitter Inborn genetic diseases ⚠
p.Leu513Ile Single submitter Inborn genetic diseases ⚠
p.Leu566Pro Single submitter Inborn genetic diseases ⚠
p.Met263Val Single submitter
p.Met333Val Single submitter Inborn genetic diseases ⚠
p.Met447Ile Single submitter Inborn genetic diseases ⚠
p.Met447Val Single submitter Inborn genetic diseases ⚠
p.Met454Ile Single submitter Inborn genetic diseases
p.Phe165Leu Single submitter Inborn genetic diseases ⚠
p.Phe452Leu Single submitter ⚠
p.Pro111Arg Single submitter Inborn genetic diseases ⚠
p.Pro116Arg Single submitter Inborn genetic diseases ⚠
p.Pro145Leu Single submitter ⚠
p.Pro151Ser Single submitter ⚠
p.Pro154His Single submitter Inborn genetic diseases ⚠
p.Pro168Arg Single submitter Inborn genetic diseases ⚠
p.Pro175Leu Single submitter Inborn genetic diseases ⚠
p.Pro176Arg Single submitter ⚠
p.Pro200Leu Single submitter ⚠
p.Pro51Leu Single submitter Inborn genetic diseases ⚠
p.Pro67Arg Single submitter Inborn genetic diseases ⚠
p.Pro70Ser Single submitter ⚠
p.Ser148Phe Single submitter Inborn genetic diseases ⚠
p.Ser193Arg Single submitter Inborn genetic diseases ⚠
p.Ser265Leu Single submitter Inborn genetic diseases ⚠
p.Ser487Leu Single submitter ⚠
p.Ser568Gly Single submitter Inborn genetic diseases ⚠
p.Ser582Leu Single submitter ⚠
p.Ser74_Ala76del Single submitter lethal osteosclerotic bone dysplasia
p.Thr268Met Single submitter ⚠
p.Thr290Met Single submitter ⚠
p.Thr295Met Single submitter
p.Thr337Ser Single submitter ⚠
p.Thr448Met Single submitter ⚠
p.Thr507Pro Single submitter ⚠
p.Tyr223Cys Single submitter ⚠
p.Tyr370Cys Single submitter ⚠
p.Val329Ala Single submitter
p.Val329Met Single submitter Inborn genetic diseases ⚠
p.Val334Ile Single submitter Inborn genetic diseases ⚠
p.Val343Ile Single submitter Inborn genetic diseases ⚠
p.Val444Ile Single submitter lethal osteosclerotic bone dysplasia ⚠
p.Val495Gly Single submitter ⚠
p.Val534Leu Single submitter ⚠
p.Val534Met Single submitter Inborn genetic diseases ⚠
p.Val537Met Single submitter
p.Val553Ile Single submitter
p.Val561Glu Single submitter ⚠
p.Cys560Ter No assertion criteria lethal osteosclerotic bone dysplasia
p.Glu115fs No assertion criteria
p.Glu211Lys No assertion criteria ⚠
p.Pro116fs No assertion criteria
p.Thr472Met No assertion criteria ⚠