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_001370658.1(BTD):c.58_59del (p.Leu20fs)	BTD	Likely pathogenic	3	15677004	15677005	CCT	C	criteria provided, single submitter	-
single nucleotide variant	NM_001370658.1(BTD):c.1400G>A (p.Trp467Ter)	BTD	Likely pathogenic	3	15686823	15686823	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001370658.1(BTD):c.250-1G>T	BTD	Likely pathogenic	3	15683414	15683414	G	T	criteria provided, single submitter	-
Deletion	NM_001370658.1(BTD):c.941_942del (p.Ile314fs)	BTD	Pathogenic/Likely pathogenic	3	15686364	15686365	ATT	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001352514.2(HLCS):c.2527C>T (p.Gln843Ter)	HLCS	Likely pathogenic	21	38126642	38126642	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001352514.2(HLCS):c.2280dup (p.Asn761fs)	HLCS	Likely pathogenic	21	38129012	38129013	T	TG	criteria provided, single submitter	-
single nucleotide variant	NM_001352514.2(HLCS):c.1621-2A>G	HLCS	Likely pathogenic	21	38269433	38269433	T	C	criteria provided, single submitter	-
Duplication	NM_001352514.2(HLCS):c.1418dup (p.Glu474fs)	HLCS	Pathogenic/Likely pathogenic	21	38308767	38308768	T	TC	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001352514.2(HLCS):c.1620+1G>A	HLCS	Likely pathogenic	21	38302550	38302550	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001352514.2(HLCS):c.1529T>A (p.Val510Asp)	HLCS	Pathogenic/Likely pathogenic	21	38302642	38302642	A	T	criteria provided, multiple submitters, no conflicts	-