FTCD — 413 ClinVar variants

All ClinVar germline FTCD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 178 flagged for review →

4 Pathogenic · 6 Pathogenic/Likely pathogenic · 26 Likely pathogenic · 10 Conflicting · 26 Benign · 13 Benign/Likely benign · 135 Likely benign · 193 Uncertain significance

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

⚑ Evidence disagreements 178

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 5

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

FTCD p.Ala483Val Conflicting Single submitter
Inborn genetic diseases
FTCD p.Arg215Cys Conflicting Single submitter
formiminoglutamic aciduria
FTCD p.Ile514Val Conflicting Single submitter
Inborn genetic diseases
FTCD p.Thr453Met Conflicting Single submitter
Inborn genetic diseases
FTCD p.Val99Ala Conflicting Single submitter
formiminoglutamic aciduria

Predictors lean, ClinVar uncertain 112

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

FTCD p.Ala159Val Uncertain significance Multiple submitters
Inborn genetic diseases
FTCD p.Ala418Thr Uncertain significance Multiple submitters
Inborn genetic diseases
FTCD p.Ala455Thr Uncertain significance Multiple submitters
Inborn genetic diseases
FTCD p.Ala455Val Uncertain significance Multiple submitters
Inborn genetic diseases
FTCD p.Ala530Val Uncertain significance Multiple submitters
formiminoglutamic aciduria
FTCD p.Arg517His Uncertain significance Multiple submitters
Inborn genetic diseases
FTCD p.Asp157Asn Uncertain significance Multiple submitters
Inborn genetic diseases
FTCD p.Asp161Asn Uncertain significance Multiple submitters
FTCD p.Asp21Asn Uncertain significance Multiple submitters
formiminoglutamic aciduria
FTCD p.Asp507Glu Uncertain significance Multiple submitters
Inborn genetic diseases
FTCD p.Cys286Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
FTCD p.Gln17Lys Uncertain significance Multiple submitters
Inborn genetic diseases
FTCD p.Glu147Lys Uncertain significance Multiple submitters
formiminoglutamic aciduria
FTCD p.Glu431Asp Uncertain significance Multiple submitters
Inborn genetic diseases
FTCD p.Gly127Ser Uncertain significance Multiple submitters
Inborn genetic diseases
FTCD p.Gly144Arg Uncertain significance Multiple submitters
Inborn genetic diseases
FTCD p.Gly177Glu Uncertain significance Multiple submitters
formiminoglutamic aciduria
FTCD p.Gly209Arg Uncertain significance Multiple submitters
Inborn genetic diseases
FTCD p.Ile199Val Uncertain significance Multiple submitters
Inborn genetic diseases
FTCD p.Leu226Pro Uncertain significance Multiple submitters
Inborn genetic diseases
FTCD p.Leu238Ile Uncertain significance Multiple submitters
Inborn genetic diseases
FTCD p.Leu531Met Uncertain significance Multiple submitters
Inborn genetic diseases
FTCD p.Met75Thr Uncertain significance Multiple submitters
Inborn genetic diseases
FTCD p.Pro451Leu Uncertain significance Multiple submitters
Inborn genetic diseases
FTCD p.Pro54Leu Uncertain significance Multiple submitters
Inborn genetic diseases
FTCD p.Pro92Ser Uncertain significance Multiple submitters
Inborn genetic diseases
FTCD p.Ser337Gly Uncertain significance Multiple submitters
Inborn genetic diseases
FTCD p.Thr389Arg Uncertain significance Multiple submitters
Inborn genetic diseases
FTCD p.Thr50Ile Uncertain significance Multiple submitters
formiminoglutamic aciduria
FTCD p.Tyr495Phe Uncertain significance Multiple submitters
Inborn genetic diseases
FTCD p.Ala110Thr Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Ala200Thr Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Ala281Val Uncertain significance Single submitter
formiminoglutamic aciduria
FTCD p.Ala283Thr Uncertain significance Single submitter
formiminoglutamic aciduria
FTCD p.Ala364Gly Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Ala40Thr Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Ala415Val Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Ala422Thr Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Ala438Thr Uncertain significance Single submitter
formiminoglutamic aciduria
FTCD p.Ala459Val Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Ala494Val Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Ala525Val Uncertain significance Single submitter
formiminoglutamic aciduria
FTCD p.Arg142Gln Uncertain significance Single submitter
formiminoglutamic aciduria
FTCD p.Arg142Trp Uncertain significance Single submitter
FTCD p.Arg204Trp Uncertain significance Single submitter
formiminoglutamic aciduria
FTCD p.Arg215His Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Arg255Gln Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Arg299Pro Uncertain significance Single submitter
formiminoglutamic aciduria
FTCD p.Arg382His Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Arg424Ser Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Arg46Cys Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Arg477Gln Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Arg84Cys Uncertain significance Single submitter
formiminoglutamic aciduria
FTCD p.Arg84His Uncertain significance Single submitter
formiminoglutamic aciduria
FTCD p.Arg97Lys Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Asn16Lys Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Asn230Ser Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Asp412Asn Uncertain significance Single submitter
formiminoglutamic aciduria
FTCD p.Asp504Ala Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Asp74Asn Uncertain significance Single submitter
formiminoglutamic aciduria
FTCD p.Asp89Gly Uncertain significance Single submitter
formiminoglutamic aciduria
FTCD p.Cys57Tyr Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Gln195His Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Gln79Glu Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Glu323Gln Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Glu328Asp Uncertain significance Single submitter
formiminoglutamic aciduria
FTCD p.Glu508Lys Uncertain significance Single submitter
formiminoglutamic aciduria
FTCD p.Gly223Ser Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Gly266Val Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Gly308Asp Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Gly330Arg Uncertain significance Single submitter
formiminoglutamic aciduria
FTCD p.Gly356Val Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Gly80Val Uncertain significance Single submitter
formiminoglutamic aciduria
FTCD p.Gly86Glu Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Gly98Ser Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.His515Tyr Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Ile27Val Uncertain significance Single submitter
FTCD p.Ile395Met Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Ile500Val Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Ile73Asn Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Ile73Thr Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Leu335Val Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Leu36Pro Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Leu461Pro Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Leu499Pro Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Leu72Phe Uncertain significance Single submitter
formiminoglutamic aciduria
FTCD p.Leu88Val Uncertain significance Single submitter
FTCD p.Lys526Arg Uncertain significance Single submitter
FTCD p.Met366Thr Uncertain significance Single submitter
formiminoglutamic aciduria
FTCD p.Met373Val Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Met489Leu Uncertain significance Single submitter
formiminoglutamic aciduria
FTCD p.Met75Val Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Phe51Val Uncertain significance Single submitter
formiminoglutamic aciduria
FTCD p.Pro150Ser Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Pro169Ser Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Pro274Leu Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Pro317Leu Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Pro396Ser Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Ser12Leu Uncertain significance Single submitter
formiminoglutamic aciduria
FTCD p.Ser170Gly Uncertain significance Single submitter
formiminoglutamic aciduria
FTCD p.Ser24Cys Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Ser339Thr Uncertain significance Single submitter
formiminoglutamic aciduria
FTCD p.Ser402Leu Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Ser43Phe Uncertain significance Single submitter
FTCD p.Ser460Leu Uncertain significance Single submitter
formiminoglutamic aciduria
FTCD p.Ser478Leu Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Thr437Met Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Val303Ala Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Val34Met Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Val48Met Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Val52Met Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Val99Ile Uncertain significance Single submitter
Inborn genetic diseases

Predictors split 61

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

FTCD p.Ala108Thr Uncertain significance Multiple submitters
Inborn genetic diseases
FTCD p.Ala178Ser Uncertain significance Multiple submitters
Inborn genetic diseases
FTCD p.Ala352Val Uncertain significance Multiple submitters
Inborn genetic diseases
FTCD p.Ala368Val Uncertain significance Multiple submitters
formiminoglutamic aciduria
FTCD p.Ala494Thr Uncertain significance Multiple submitters
Inborn genetic diseases
FTCD p.Arg198His Uncertain significance Multiple submitters
formiminoglutamic aciduria
FTCD p.Arg320Gln Uncertain significance Multiple submitters
Inborn genetic diseases
FTCD p.Arg436His Uncertain significance Multiple submitters
formiminoglutamic aciduria
FTCD p.Arg446Trp Uncertain significance Multiple submitters
Inborn genetic diseases
FTCD p.Arg477Trp Uncertain significance Multiple submitters
Inborn genetic diseases
FTCD p.Arg517Cys Uncertain significance Multiple submitters
Inborn genetic diseases
FTCD p.Arg539Trp Uncertain significance Multiple submitters
Inborn genetic diseases
FTCD p.Gln528Pro Uncertain significance Multiple submitters
Inborn genetic diseases
FTCD p.Gln79Pro Uncertain significance Multiple submitters
Inborn genetic diseases
FTCD p.Glu400Lys Likely benign Multiple submitters
Inborn genetic diseases
FTCD p.Gly32Cys Benign/Likely benign Multiple submitters
formiminoglutamic aciduria
FTCD p.Gly380Arg Uncertain significance Multiple submitters
formiminoglutamic aciduria
FTCD p.Leu425Phe Uncertain significance Multiple submitters
Inborn genetic diseases
FTCD p.Pro31Leu Uncertain significance Multiple submitters
formiminoglutamic aciduria
FTCD p.Ser339Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
FTCD p.Val59Gly Uncertain significance Multiple submitters
formiminoglutamic aciduria
FTCD p.Ala22Thr Uncertain significance Single submitter
formiminoglutamic aciduria
FTCD p.Ala360Thr Uncertain significance Single submitter
formiminoglutamic aciduria
FTCD p.Ala364Glu Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Ala469Thr Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Arg135Cys Uncertain significance Single submitter
formiminoglutamic aciduria
FTCD p.Arg198Cys Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Arg208His Conflicting Single submitter
formiminoglutamic aciduria
FTCD p.Arg299Trp Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Arg436Cys Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Arg470Trp Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Arg67Gln Uncertain significance Single submitter
formiminoglutamic aciduria
FTCD p.Arg67Trp Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Arg71Pro Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Asp157Tyr Likely benign Single submitter
formiminoglutamic aciduria
FTCD p.Asp410Gly Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Cys107Arg Conflicting Single submitter
Inborn genetic diseases
FTCD p.Glu103Val Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Glu147Gln Uncertain significance Single submitter
FTCD p.Glu432Lys Uncertain significance Single submitter
FTCD p.Glu81Lys Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Gly191Ser Conflicting Single submitter
Inborn genetic diseases
FTCD p.Gly221Ser Uncertain significance Single submitter
formiminoglutamic aciduria
FTCD p.Ile199Met Uncertain significance Single submitter
FTCD p.Lys427Glu Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Phe181Val Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Pro213Leu Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Pro463Leu Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Pro83Leu Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Ser261Ile Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Thr174Met Uncertain significance Single submitter
formiminoglutamic aciduria
FTCD p.Thr176Met Uncertain significance Single submitter
formiminoglutamic aciduria
FTCD p.Thr244Met Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Thr457Met Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Thr506Ile Uncertain significance Single submitter
formiminoglutamic aciduria
FTCD p.Val121Met Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Val249Ile Uncertain significance Single submitter
Inborn genetic diseases
FTCD p.Val273Ala Uncertain significance Single submitter
formiminoglutamic aciduria
FTCD p.Val58Met Uncertain significance Single submitter
formiminoglutamic aciduria
FTCD p.Val8Ile Uncertain significance Single submitter
formiminoglutamic aciduria
FTCD p.Val96Met Uncertain significance Single submitter
Inborn genetic diseases

All FTCD variants

Pathogenic 4

p.Arg255Ter Multiple submitters Inborn genetic diseases
p.Glu205fs Single submitter formiminoglutamic aciduria
p.Ser165fs Single submitter formiminoglutamic aciduria
p.Tyr126Ter Single submitter formiminoglutamic aciduria

Pathogenic/Likely pathogenic 6

p.Arg71Ter Multiple submitters FTCD-related disorder
p.Leu536Ter Multiple submitters formiminoglutamic aciduria
p.Pro331fs Multiple submitters FTCD-related disorders
p.Tyr124Ter Multiple submitters formiminoglutamic aciduria
p.Val344fs Multiple submitters formiminoglutamic aciduria
p.Val99fs Multiple submitters formiminoglutamic aciduria

Likely pathogenic 26

p.Ala62fs Multiple submitters formiminoglutamic aciduria
c.1068_1098+24del Single submitter formiminoglutamic aciduria
c.1261-1G>A Single submitter formiminoglutamic aciduria
c.1304+1G>A Single submitter formiminoglutamic aciduria
c.1443+1del Single submitter formiminoglutamic aciduria
c.1444-1G>A Single submitter formiminoglutamic aciduria
c.1444-2A>C Single submitter formiminoglutamic aciduria
c.54+2T>A Single submitter formiminoglutamic aciduria
p.Ala361fs Single submitter formiminoglutamic aciduria
p.Ala362fs Single submitter formiminoglutamic aciduria
p.Arg333fs Single submitter formiminoglutamic aciduria
p.Arg333Ter Single submitter FTCD-related disorder
p.Arg341fs Single submitter formiminoglutamic aciduria
p.Arg435fs Single submitter formiminoglutamic aciduria
p.Cys313Ter Single submitter formiminoglutamic aciduria
p.Gln154Ter Single submitter formiminoglutamic aciduria
p.Glu332fs Single submitter formiminoglutamic aciduria
p.Glu431fs Single submitter formiminoglutamic aciduria
p.Glu508Ter Single submitter formiminoglutamic aciduria
p.Gly355fs Single submitter formiminoglutamic aciduria
p.His515fs Single submitter formiminoglutamic aciduria
p.Leu340fs Single submitter formiminoglutamic aciduria
p.Phe111fs Single submitter formiminoglutamic aciduria
p.Ser100fs Single submitter formiminoglutamic aciduria
p.Ser358fs Single submitter formiminoglutamic aciduria
p.Tyr225fs Single submitter formiminoglutamic aciduria

Conflicting classifications of pathogenicity 10

p.Ala464Val Single submitter Inborn genetic diseases
p.Ala483Val Single submitter Inborn genetic diseases ⚠
p.Arg208His Single submitter formiminoglutamic aciduria ⚠
p.Arg215Cys Single submitter formiminoglutamic aciduria ⚠
p.Cys107Arg Single submitter Inborn genetic diseases ⚠
p.Glu456fs Single submitter Inborn genetic diseases
p.Gly191Ser Single submitter Inborn genetic diseases ⚠
p.Ile514Val Single submitter Inborn genetic diseases ⚠
p.Thr453Met Single submitter Inborn genetic diseases ⚠
p.Val99Ala Single submitter formiminoglutamic aciduria ⚠

Benign 26

c.54+12G>A Multiple submitters formiminoglutamic aciduria
c.906+15C>T Multiple submitters formiminoglutamic aciduria
c.*108G>A Multiple submitters formiminoglutamic aciduria
p.Ala438Val Multiple submitters formiminoglutamic aciduria
p.Ala464= Multiple submitters formiminoglutamic aciduria
p.Arg350= Multiple submitters formiminoglutamic aciduria
p.Gly490= Multiple submitters formiminoglutamic aciduria
p.Leu307= Multiple submitters formiminoglutamic aciduria
p.Lys151Met Multiple submitters formiminoglutamic aciduria
p.Pro139= Multiple submitters formiminoglutamic aciduria
p.Val101Met Multiple submitters formiminoglutamic aciduria
c.1261-13C>G Single submitter formiminoglutamic aciduria
c.1443+17del Single submitter formiminoglutamic aciduria
c.1443+4dup Single submitter formiminoglutamic aciduria
c.1443+9del Single submitter formiminoglutamic aciduria
c.367+16del Single submitter formiminoglutamic aciduria
c.367+16dup Single submitter formiminoglutamic aciduria
c.368-17G>T Single submitter formiminoglutamic aciduria
c.457-14G>A Single submitter formiminoglutamic aciduria
c.457-16G>A Single submitter formiminoglutamic aciduria
c.*19C>T Single submitter
p.Ala159= Single submitter formiminoglutamic aciduria
p.Arg446Gln Single submitter formiminoglutamic aciduria
p.Glu128Lys Single submitter formiminoglutamic aciduria
p.Ser12= Single submitter formiminoglutamic aciduria
p.Thr429= Single submitter formiminoglutamic aciduria

Benign/Likely benign 13

c.1099-20dup Multiple submitters formiminoglutamic aciduria
c.239-13C>T Multiple submitters formiminoglutamic aciduria
c.239-16C>T Multiple submitters formiminoglutamic aciduria
c.368-15C>T Multiple submitters formiminoglutamic aciduria
c.368-17G>A Multiple submitters formiminoglutamic aciduria
c.456+10C>G Multiple submitters formiminoglutamic aciduria
p.Arg136Gln Multiple submitters Inborn genetic diseases
p.Asn64= Multiple submitters formiminoglutamic aciduria
p.Asp89= Multiple submitters formiminoglutamic aciduria
p.Gly32Cys Multiple submitters formiminoglutamic aciduria ⚠
p.Thr390Ala Multiple submitters formiminoglutamic aciduria
p.Thr407Lys Multiple submitters formiminoglutamic aciduria
p.Tyr126= Multiple submitters formiminoglutamic aciduria

Likely benign 135

c.774+18C>T Multiple submitters formiminoglutamic aciduria
p.Ala143= Multiple submitters formiminoglutamic aciduria
p.Ala439= Multiple submitters formiminoglutamic aciduria
p.Arg470Gln Multiple submitters formiminoglutamic aciduria
p.Asp120= Multiple submitters
p.Asp39= Multiple submitters formiminoglutamic aciduria
p.Glu400Lys Multiple submitters Inborn genetic diseases ⚠
p.Ile199= Multiple submitters formiminoglutamic aciduria
p.Ile94= Multiple submitters formiminoglutamic aciduria
p.Leu425= Multiple submitters formiminoglutamic aciduria
p.Leu461= Multiple submitters formiminoglutamic aciduria
p.Pro95= Multiple submitters Inborn genetic diseases
p.Tyr146= Multiple submitters formiminoglutamic aciduria
p.Val374= Multiple submitters formiminoglutamic aciduria
c.1098+13G>A Single submitter formiminoglutamic aciduria
c.1098+15A>G Single submitter
c.1098+18_1098+19insGGGCGCTGTTGGGGGGAGGGCGGGGAG Single submitter formiminoglutamic aciduria
c.1098+20C>A Single submitter formiminoglutamic aciduria
c.1098+20C>G Single submitter formiminoglutamic aciduria
c.1260+9C>T Single submitter formiminoglutamic aciduria
c.1261-18T>A Single submitter formiminoglutamic aciduria
c.1261-19T>G Single submitter formiminoglutamic aciduria
c.1261-8T>C Single submitter formiminoglutamic aciduria
c.1304+14G>A Single submitter formiminoglutamic aciduria
c.1304+16C>T Single submitter formiminoglutamic aciduria
c.1304+20C>T Single submitter formiminoglutamic aciduria
c.1305-15T>C Single submitter formiminoglutamic aciduria
c.1305-16C>T Single submitter
c.1305-17C>T Single submitter formiminoglutamic aciduria
c.1443+12C>T Single submitter formiminoglutamic aciduria
c.1444-19C>G Single submitter formiminoglutamic aciduria
c.1539+16G>T Single submitter formiminoglutamic aciduria
c.1539+7A>T Single submitter formiminoglutamic aciduria
c.1540-17_1540-16del Single submitter formiminoglutamic aciduria
c.1540-6C>T Single submitter formiminoglutamic aciduria
c.238+13G>A Single submitter formiminoglutamic aciduria
c.239-12G>A Single submitter formiminoglutamic aciduria
c.367+11C>T Single submitter formiminoglutamic aciduria
c.367+13C>T Single submitter formiminoglutamic aciduria
c.367+16C>T Single submitter formiminoglutamic aciduria
c.367+17del Single submitter formiminoglutamic aciduria
c.367+17G>A Single submitter formiminoglutamic aciduria
c.367+18C>G Single submitter formiminoglutamic aciduria
c.368-14G>A Single submitter formiminoglutamic aciduria
c.456+13C>T Single submitter formiminoglutamic aciduria
c.456+14G>A Single submitter formiminoglutamic aciduria
c.456+16G>C Single submitter formiminoglutamic aciduria
c.456+17C>T Single submitter formiminoglutamic aciduria
c.54+10G>A Single submitter formiminoglutamic aciduria
c.54+14A>T Single submitter formiminoglutamic aciduria
c.54+9C>T Single submitter formiminoglutamic aciduria
c.55-14G>T Single submitter formiminoglutamic aciduria
c.55-16C>T Single submitter formiminoglutamic aciduria
c.55-18G>A Single submitter formiminoglutamic aciduria
c.636+8C>T Single submitter formiminoglutamic aciduria
c.636+9G>A Single submitter formiminoglutamic aciduria
c.637-14C>T Single submitter formiminoglutamic aciduria
c.774+11G>A Single submitter formiminoglutamic aciduria
c.774+19G>A Single submitter formiminoglutamic aciduria
c.774+7C>G Single submitter formiminoglutamic aciduria
c.774+9G>A Single submitter formiminoglutamic aciduria
c.775-16G>A Single submitter formiminoglutamic aciduria
c.775-20C>T Single submitter formiminoglutamic aciduria
c.906+13G>A Single submitter formiminoglutamic aciduria
c.906+7C>T Single submitter formiminoglutamic aciduria
c.906+8G>A Single submitter formiminoglutamic aciduria
c.969-15_969-14delinsTT Single submitter formiminoglutamic aciduria
c.*28G>A Single submitter
c.*71C>T Single submitter
p.Ala178= Single submitter formiminoglutamic aciduria
p.Ala200= Single submitter formiminoglutamic aciduria
p.Ala438= Single submitter formiminoglutamic aciduria
p.Ala483= Single submitter formiminoglutamic aciduria
p.Ala486= Single submitter formiminoglutamic aciduria
p.Ala494= Single submitter formiminoglutamic aciduria
p.Ala530= Single submitter formiminoglutamic aciduria
p.Ala66= Single submitter formiminoglutamic aciduria
p.Arg208= Single submitter formiminoglutamic aciduria
p.Arg329= Single submitter formiminoglutamic aciduria
p.Arg333= Single submitter formiminoglutamic aciduria
p.Arg341= Single submitter formiminoglutamic aciduria
p.Arg46= Single submitter formiminoglutamic aciduria
p.Asp157= Single submitter formiminoglutamic aciduria
p.Asp157Tyr Single submitter formiminoglutamic aciduria ⚠
p.Asp157Val Single submitter Inborn genetic diseases
p.Asp21= Single submitter formiminoglutamic aciduria
p.Asp434= Single submitter formiminoglutamic aciduria
p.Cys107= Single submitter formiminoglutamic aciduria
p.Cys57= Single submitter formiminoglutamic aciduria
p.Glu81= Single submitter formiminoglutamic aciduria
p.Gly334= Single submitter formiminoglutamic aciduria
p.Gly336Val Single submitter formiminoglutamic aciduria
p.Gly375= Single submitter formiminoglutamic aciduria
p.Gly98= Single submitter formiminoglutamic aciduria
p.His515= Single submitter formiminoglutamic aciduria
p.Ile141= Single submitter formiminoglutamic aciduria
p.Ile20= Single submitter formiminoglutamic aciduria
p.Ile322= Single submitter
p.Ile500= Single submitter formiminoglutamic aciduria
p.Ile73= Single submitter formiminoglutamic aciduria
p.Leu279= Single submitter
p.Leu387= Single submitter formiminoglutamic aciduria
p.Leu4= Single submitter
p.Leu499= Single submitter formiminoglutamic aciduria
p.Leu521= Single submitter formiminoglutamic aciduria
p.Leu536= Single submitter formiminoglutamic aciduria
p.Lys218= Single submitter formiminoglutamic aciduria
p.Phe343= Single submitter formiminoglutamic aciduria
p.Phe398= Single submitter formiminoglutamic aciduria
p.Pro160= Single submitter formiminoglutamic aciduria
p.Pro274= Single submitter formiminoglutamic aciduria
p.Pro31= Single submitter
p.Pro451= Single submitter formiminoglutamic aciduria
p.Pro463= Single submitter formiminoglutamic aciduria
p.Pro55= Single submitter formiminoglutamic aciduria
p.Pro83= Single submitter formiminoglutamic aciduria
p.Ser165= Single submitter formiminoglutamic aciduria
p.Ser351= Single submitter formiminoglutamic aciduria
p.Ser402= Single submitter formiminoglutamic aciduria
p.Ser43= Single submitter formiminoglutamic aciduria
p.Ser460= Single submitter formiminoglutamic aciduria
p.Thr176= Single submitter formiminoglutamic aciduria
p.Thr437= Single submitter
p.Thr457= Single submitter formiminoglutamic aciduria
p.Thr47= Single submitter formiminoglutamic aciduria
p.Thr538= Single submitter formiminoglutamic aciduria
p.Tyr250= Single submitter formiminoglutamic aciduria
p.Val121= Single submitter formiminoglutamic aciduria
p.Val265= Single submitter
p.Val344= Single submitter formiminoglutamic aciduria
c.367+10C>G No assertion criteria FTCD-related disorder
c.*80C>G No assertion criteria FTCD-related disorder
p.Phe51= No assertion criteria FTCD-related disorder
p.Thr244= No assertion criteria FTCD-related disorder
p.Thr564Lys No assertion criteria FTCD-related disorder

Uncertain significance 193

p.Ala108Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala159Val Multiple submitters Inborn genetic diseases ⚠
p.Ala178Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala352Val Multiple submitters Inborn genetic diseases ⚠
p.Ala361Val Multiple submitters Inborn genetic diseases
p.Ala368Val Multiple submitters formiminoglutamic aciduria ⚠
p.Ala418Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala455Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala455Val Multiple submitters Inborn genetic diseases ⚠
p.Ala494Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala530Val Multiple submitters formiminoglutamic aciduria ⚠
p.Ala66Val Multiple submitters formiminoglutamic aciduria
p.Arg198His Multiple submitters formiminoglutamic aciduria ⚠
p.Arg320Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg436His Multiple submitters formiminoglutamic aciduria ⚠
p.Arg446Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg477Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg517Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg517His Multiple submitters Inborn genetic diseases ⚠
p.Arg539Trp Multiple submitters Inborn genetic diseases ⚠
p.Asp157Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp161Asn Multiple submitters ⚠
p.Asp21Asn Multiple submitters formiminoglutamic aciduria ⚠
p.Asp507Glu Multiple submitters Inborn genetic diseases ⚠
p.Cys286Tyr Multiple submitters Inborn genetic diseases ⚠
p.Gln17Lys Multiple submitters Inborn genetic diseases ⚠
p.Gln528Pro Multiple submitters Inborn genetic diseases ⚠
p.Gln79Pro Multiple submitters Inborn genetic diseases ⚠
p.Glu147Lys Multiple submitters formiminoglutamic aciduria ⚠
p.Glu431Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly127Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly144Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly177Glu Multiple submitters formiminoglutamic aciduria ⚠
p.Gly209Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly380Arg Multiple submitters formiminoglutamic aciduria ⚠
p.Ile199Val Multiple submitters Inborn genetic diseases ⚠
p.Leu226Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu238Ile Multiple submitters Inborn genetic diseases ⚠
p.Leu425Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu531Met Multiple submitters Inborn genetic diseases ⚠
p.Met75Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro31Leu Multiple submitters formiminoglutamic aciduria ⚠
p.Pro451Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro54Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro92Ser Multiple submitters Inborn genetic diseases ⚠
p.Ser337Gly Multiple submitters Inborn genetic diseases ⚠
p.Ser339Tyr Multiple submitters Inborn genetic diseases ⚠
p.Thr389Arg Multiple submitters Inborn genetic diseases ⚠
p.Thr47Ser Multiple submitters Inborn genetic diseases
p.Thr50Ile Multiple submitters formiminoglutamic aciduria ⚠
p.Tyr495Phe Multiple submitters Inborn genetic diseases ⚠
p.Val458del Multiple submitters
p.Val59Gly Multiple submitters formiminoglutamic aciduria ⚠
c.1539+4_1539+11del Single submitter formiminoglutamic aciduria
c.367+6C>T Single submitter formiminoglutamic aciduria
c.636+5C>T Single submitter formiminoglutamic aciduria
c.774+4A>G Single submitter formiminoglutamic aciduria
c.774+5G>T Single submitter
c.*1C>T Single submitter formiminoglutamic aciduria
c.*7G>A Single submitter
p.Ala110Thr Single submitter Inborn genetic diseases ⚠
p.Ala140Pro Single submitter formiminoglutamic aciduria
p.Ala156= Single submitter formiminoglutamic aciduria
p.Ala200Thr Single submitter Inborn genetic diseases ⚠
p.Ala22Thr Single submitter formiminoglutamic aciduria ⚠
p.Ala281Val Single submitter formiminoglutamic aciduria ⚠
p.Ala283Thr Single submitter formiminoglutamic aciduria ⚠
p.Ala360Thr Single submitter formiminoglutamic aciduria ⚠
p.Ala360Val Single submitter
p.Ala364Glu Single submitter Inborn genetic diseases ⚠
p.Ala364Gly Single submitter Inborn genetic diseases ⚠
p.Ala365del Single submitter formiminoglutamic aciduria
p.Ala40Thr Single submitter Inborn genetic diseases ⚠
p.Ala415Val Single submitter Inborn genetic diseases ⚠
p.Ala422Thr Single submitter Inborn genetic diseases ⚠
p.Ala438Thr Single submitter formiminoglutamic aciduria ⚠
p.Ala439del Single submitter formiminoglutamic aciduria
p.Ala459Val Single submitter Inborn genetic diseases ⚠
p.Ala469Thr Single submitter Inborn genetic diseases ⚠
p.Ala494Val Single submitter Inborn genetic diseases ⚠
p.Ala525Val Single submitter formiminoglutamic aciduria ⚠
p.Arg135Cys Single submitter formiminoglutamic aciduria ⚠
p.Arg142Gln Single submitter formiminoglutamic aciduria ⚠
p.Arg142Trp Single submitter ⚠
p.Arg198Cys Single submitter Inborn genetic diseases ⚠
p.Arg204Trp Single submitter formiminoglutamic aciduria ⚠
p.Arg215His Single submitter Inborn genetic diseases ⚠
p.Arg255Gln Single submitter Inborn genetic diseases ⚠
p.Arg299Pro Single submitter formiminoglutamic aciduria ⚠
p.Arg299Trp Single submitter Inborn genetic diseases ⚠
p.Arg382His Single submitter Inborn genetic diseases ⚠
p.Arg424Ser Single submitter Inborn genetic diseases ⚠
p.Arg436Cys Single submitter Inborn genetic diseases ⚠
p.Arg46Cys Single submitter Inborn genetic diseases ⚠
p.Arg470Trp Single submitter Inborn genetic diseases ⚠
p.Arg477Gln Single submitter Inborn genetic diseases ⚠
p.Arg67Gln Single submitter formiminoglutamic aciduria ⚠
p.Arg67Trp Single submitter Inborn genetic diseases ⚠
p.Arg71Pro Single submitter Inborn genetic diseases ⚠
p.Arg84Cys Single submitter formiminoglutamic aciduria ⚠
p.Arg84His Single submitter formiminoglutamic aciduria ⚠
p.Arg97Lys Single submitter Inborn genetic diseases ⚠
p.Asn16Lys Single submitter Inborn genetic diseases ⚠
p.Asn230Ser Single submitter Inborn genetic diseases ⚠
p.Asp410Gly Single submitter Inborn genetic diseases ⚠
p.Asp412Asn Single submitter formiminoglutamic aciduria ⚠
p.Asp504Ala Single submitter Inborn genetic diseases ⚠
p.Asp74Asn Single submitter formiminoglutamic aciduria ⚠
p.Asp89Gly Single submitter formiminoglutamic aciduria ⚠
p.Cys57Tyr Single submitter Inborn genetic diseases ⚠
p.Gln195His Single submitter Inborn genetic diseases ⚠
p.Gln513fs Single submitter
p.Gln79Glu Single submitter Inborn genetic diseases ⚠
p.Glu103Val Single submitter Inborn genetic diseases ⚠
p.Glu147Gln Single submitter ⚠
p.Glu323Gln Single submitter Inborn genetic diseases ⚠
p.Glu328Asp Single submitter formiminoglutamic aciduria ⚠
p.Glu432Lys Single submitter ⚠
p.Glu488Lys Single submitter Inborn genetic diseases
p.Glu508Lys Single submitter formiminoglutamic aciduria ⚠
p.Glu81Lys Single submitter Inborn genetic diseases ⚠
p.Gly221Ser Single submitter formiminoglutamic aciduria ⚠
p.Gly223Ser Single submitter Inborn genetic diseases ⚠
p.Gly266Val Single submitter Inborn genetic diseases ⚠
p.Gly308Asp Single submitter Inborn genetic diseases ⚠
p.Gly330Arg Single submitter formiminoglutamic aciduria ⚠
p.Gly356Val Single submitter Inborn genetic diseases ⚠
p.Gly80Val Single submitter formiminoglutamic aciduria ⚠
p.Gly86Glu Single submitter Inborn genetic diseases ⚠
p.Gly98Ser Single submitter Inborn genetic diseases ⚠
p.His515Tyr Single submitter Inborn genetic diseases ⚠
p.Ile199Met Single submitter ⚠
p.Ile27Val Single submitter ⚠
p.Ile395Met Single submitter Inborn genetic diseases ⚠
p.Ile500Val Single submitter Inborn genetic diseases ⚠
p.Ile505Thr Single submitter formiminoglutamic aciduria
p.Ile73Asn Single submitter Inborn genetic diseases ⚠
p.Ile73Thr Single submitter Inborn genetic diseases ⚠
p.Leu335Val Single submitter Inborn genetic diseases ⚠
p.Leu36Pro Single submitter Inborn genetic diseases ⚠
p.Leu387Pro Single submitter Inborn genetic diseases
p.Leu408Pro Single submitter Inborn genetic diseases
p.Leu461Pro Single submitter Inborn genetic diseases ⚠
p.Leu499Pro Single submitter Inborn genetic diseases ⚠
p.Leu72Phe Single submitter formiminoglutamic aciduria ⚠
p.Leu88Val Single submitter ⚠
p.Lys288del Single submitter formiminoglutamic aciduria
p.Lys427Glu Single submitter Inborn genetic diseases ⚠
p.Lys526Arg Single submitter ⚠
p.Met366Thr Single submitter formiminoglutamic aciduria ⚠
p.Met373Val Single submitter Inborn genetic diseases ⚠
p.Met489Leu Single submitter formiminoglutamic aciduria ⚠
p.Met75Val Single submitter Inborn genetic diseases ⚠
p.Phe181Val Single submitter Inborn genetic diseases ⚠
p.Phe51Val Single submitter formiminoglutamic aciduria ⚠
p.Pro150Ser Single submitter Inborn genetic diseases ⚠
p.Pro169Ser Single submitter Inborn genetic diseases ⚠
p.Pro213Leu Single submitter Inborn genetic diseases ⚠
p.Pro274Leu Single submitter Inborn genetic diseases ⚠
p.Pro317Leu Single submitter Inborn genetic diseases ⚠
p.Pro396Ser Single submitter Inborn genetic diseases ⚠
p.Pro463Leu Single submitter Inborn genetic diseases ⚠
p.Pro83Leu Single submitter Inborn genetic diseases ⚠
p.Ser12Leu Single submitter formiminoglutamic aciduria ⚠
p.Ser170Gly Single submitter formiminoglutamic aciduria ⚠
p.Ser24Cys Single submitter Inborn genetic diseases ⚠
p.Ser261Ile Single submitter Inborn genetic diseases ⚠
p.Ser339Thr Single submitter formiminoglutamic aciduria ⚠
p.Ser402Leu Single submitter Inborn genetic diseases ⚠
p.Ser43Phe Single submitter ⚠
p.Ser460Leu Single submitter formiminoglutamic aciduria ⚠
p.Ser478Leu Single submitter Inborn genetic diseases ⚠
p.Thr174Met Single submitter formiminoglutamic aciduria ⚠
p.Thr176Met Single submitter formiminoglutamic aciduria ⚠
p.Thr244Met Single submitter Inborn genetic diseases ⚠
p.Thr437Met Single submitter Inborn genetic diseases ⚠
p.Thr457Met Single submitter Inborn genetic diseases ⚠
p.Thr506Ile Single submitter formiminoglutamic aciduria ⚠
p.Tyr419Asn Single submitter
p.Val121Met Single submitter Inborn genetic diseases ⚠
p.Val249Ile Single submitter Inborn genetic diseases ⚠
p.Val273Ala Single submitter formiminoglutamic aciduria ⚠
p.Val303Ala Single submitter Inborn genetic diseases ⚠
p.Val34Met Single submitter Inborn genetic diseases ⚠
p.Val359Gly Single submitter formiminoglutamic aciduria
p.Val48Met Single submitter Inborn genetic diseases ⚠
p.Val498Met Single submitter Inborn genetic diseases
p.Val52Met Single submitter Inborn genetic diseases ⚠
p.Val58Leu Single submitter Inborn genetic diseases
p.Val58Met Single submitter formiminoglutamic aciduria ⚠
p.Val8Ile Single submitter formiminoglutamic aciduria ⚠
p.Val96Met Single submitter Inborn genetic diseases ⚠
p.Val99Ile Single submitter Inborn genetic diseases ⚠