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
Indel	NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)	BTD	Pathogenic	3	15676984	15676990	GCGGCTG	TCC	criteria provided, multiple submitters, no conflicts	ClinGen:CA285306,OMIM:609019.0001
single nucleotide variant	NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)	BTD	Pathogenic	3	15686958	15686958	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278009,UniProtKB:P43251#VAR_005120,OMIM:609019.0011
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
single nucleotide variant	NM_001370658.1(BTD):c.695A>G (p.Asp232Gly)	BTD	Pathogenic	3	15686118	15686118	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA278012,OMIM:609019.0006
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.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_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_001352514.2(HLCS):c.1963C>T (p.Arg655Trp)	HLCS	Pathogenic	21	38137471	38137471	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278020,UniProtKB:P50747#VAR_013009,OMIM:609018.0004
single nucleotide variant	NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser)	HLCS	Pathogenic	21	38132082	38132082	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278021,UniProtKB:P50747#VAR_009200,OMIM:609018.0005
single nucleotide variant	NM_001352514.2(HLCS):c.2089G>A (p.Val697Met)	HLCS	Pathogenic	21	38137345	38137345	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278022,UniProtKB:P50747#VAR_009198,OMIM:609018.0006