複合カルボキシラーゼ欠損症

小児・神経疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_001370658.1(BTD):c.409C>T (p.Arg137Cys)	BTD	Pathogenic/Likely pathogenic	3	15685832	15685832	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278215
single nucleotide variant	NM_001370658.1(BTD):c.399G>A (p.Glu133=)	BTD	Pathogenic/Likely pathogenic	3	15683564	15683564	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278210
single nucleotide variant	NM_001370658.1(BTD):c.281G>T (p.Gly94Val)	BTD	Pathogenic/Likely pathogenic	3	15683446	15683446	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278191
single nucleotide variant	NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys)	BTD	Pathogenic/Likely pathogenic	3	15677164	15677164	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA278179
single nucleotide variant	NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg)	HLCS	Pathogenic/Likely pathogenic	21	38309098	38309098	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA278025,UniProtKB:P50747#VAR_021218,OMIM:609018.0009
single nucleotide variant	NM_001352514.2(HLCS):c.1960+5G>A	HLCS	Pathogenic/Likely pathogenic	21	38139514	38139514	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278023,OMIM:609018.0007
single nucleotide variant	NM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro)	HLCS	Pathogenic/Likely pathogenic	21	38309035	38309035	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA278018,UniProtKB:P50747#VAR_005084,OMIM:609018.0002
single nucleotide variant	NM_001370658.1(BTD):c.175C>T (p.Arg59Cys)	BTD	Pathogenic/Likely pathogenic	3	15677121	15677121	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278016,OMIM:609019.0010
single nucleotide variant	NM_001370658.1(BTD):c.1308A>C (p.Gln436His)	BTD	Pathogenic/Likely pathogenic	3	15686731	15686731	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA285304,UniProtKB:P43251#VAR_005119,OMIM:609019.0007
single nucleotide variant	NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)	BTD	Pathogenic/Likely pathogenic	3	15686975	15686975	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA220320,UniProtKB:P43251#VAR_005121,OMIM:609019.0003