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
single nucleotide variant	NM_001352514.2(HLCS):c.1163G>C (p.Gly388Ala)	HLCS	Likely pathogenic	21	38309023	38309023	C	G	criteria provided, single submitter	ClinGen:CA10654770
Deletion	NM_001352514.2(HLCS):c.1223del (p.Gly408fs)	HLCS	Pathogenic	21	38308963	38308963	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA312635,OMIM:609018.0001
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.1496T>A (p.Leu499Ter)	HLCS	Pathogenic	21	38302675	38302675	A	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	-
single nucleotide variant	NM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter)	HLCS	Pathogenic/Likely pathogenic	21	38302595	38302595	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA409911138
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.1621-2A>G	HLCS	Likely pathogenic	21	38269433	38269433	T	C	criteria provided, single submitter	-
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