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
Deletion	NM_001352514.2(HLCS):c.712_713del (p.Arg238fs)	HLCS	Likely pathogenic	21	38309473	38309474	CCT	C	criteria provided, single submitter	-
Duplication	NM_001352514.2(HLCS):c.2260dup (p.Ser754fs)	HLCS	Pathogenic/Likely pathogenic	21	38129032	38129033	C	CT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001370658.1(BTD):c.1419del (p.Tyr474fs)	BTD	Pathogenic	3	15686841	15686841	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_001370658.1(BTD):c.419G>T (p.Cys140Phe)	BTD	Pathogenic	3	15685842	15685842	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_001352514.2(HLCS):c.691G>T (p.Glu231Ter)	HLCS	Pathogenic	21	38309495	38309495	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001352514.2(HLCS):c.1045G>T (p.Glu349Ter)	HLCS	Pathogenic	21	38309141	38309141	C	A	criteria provided, single submitter	-
Deletion	NM_001370658.1(BTD):c.333del (p.Phe111fs)	BTD	Likely pathogenic	3	15683498	15683498	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_001370658.1(BTD):c.522C>G (p.Phe174Leu)	BTD	Pathogenic	3	15685945	15685945	C	G	criteria provided, single submitter	-
Deletion	NM_001370658.1(BTD):c.534_536del (p.Val179del)	BTD	Pathogenic/Likely pathogenic	3	15685957	15685959	TGTC	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001370658.1(BTD):c.755G>A (p.Trp252Ter)	BTD	Likely pathogenic	3	15686178	15686178	G	A	criteria provided, single submitter	-