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_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
Deletion	NM_001370658.1(BTD):c.-18del	BTD	Pathogenic	3	15643400	15643400	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_001370658.1(BTD):c.400-2A>G	BTD	Likely pathogenic	3	15685821	15685821	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_001370658.1(BTD):c.1387G>T (p.Glu463Ter)	BTD	Pathogenic	3	15686810	15686810	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001370658.1(BTD):c.577del (p.His193fs)	BTD	Pathogenic	3	15686000	15686000	AC	A	criteria provided, single submitter	-
Deletion	NM_001370658.1(BTD):c.1324del (p.Arg442fs)	BTD	Pathogenic	3	15686747	15686747	CA	C	criteria provided, single submitter	-
Duplication	NM_001370658.1(BTD):c.1204dup (p.Leu402fs)	BTD	Pathogenic	3	15686627	15686627	G	GC	criteria provided, single submitter	-
Duplication	NM_001370658.1(BTD):c.1036_1037dup (p.Gly347fs)	BTD	Pathogenic	3	15686458	15686459	G	GTC	criteria provided, single submitter	-
single nucleotide variant	NM_001370658.1(BTD):c.755G>A (p.Trp252Ter)	BTD	Likely pathogenic	3	15686178	15686178	G	A	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	-