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.1223del (p.Gly408fs)	HLCS	Pathogenic	21	38308963	38308963	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA312635,OMIM:609018.0001
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.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.1088T>G (p.Leu363Arg)	HLCS	Pathogenic/Likely pathogenic	21	38309098	38309098	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA278025,UniProtKB:P50747#VAR_021218,OMIM:609018.0009
Duplication	NM_001352514.2(HLCS):c.1096dup (p.Ile366fs)	HLCS	Pathogenic	21	38309089	38309090	A	AT	criteria provided, single submitter	ClinGen:CA278024,OMIM:609018.0008
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
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.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
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