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.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.2065C>T (p.Gln689Ter)	HLCS	Pathogenic	21	38137369	38137369	G	A	criteria provided, single submitter	ClinGen:CA278518
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
single nucleotide variant	NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter)	HLCS	Pathogenic	21	38132130	38132130	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10020346
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
Duplication	NM_001352514.2(HLCS):c.2260dup (p.Ser754fs)	HLCS	Pathogenic/Likely pathogenic	21	38129032	38129033	C	CT	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	-
Deletion	NM_001352514.2(HLCS):c.2333del (p.Pro777_Leu778insTer)	HLCS	Pathogenic	21	38128960	38128960	TA	T	criteria provided, single submitter	ClinGen:CA312632
single nucleotide variant	NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter)	HLCS	Pathogenic/Likely pathogenic	21	38128859	38128859	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001352514.2(HLCS):c.2446C>T (p.His816Tyr)	HLCS	Pathogenic	21	38128847	38128847	G	A	criteria provided, single submitter	ClinGen:CA10581253