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
Indel	NM_001352514.2(HLCS):c.569_585delinsTTGCTTGAGATTAAGCCTGAGATTAAGG (p.Pro190_Ser195delinsLeuAlaTer)	HLCS	Likely pathogenic	21	38309601	38309617	AGAAGGTTCAGGCTTCG	CCTTAATCTCAGGCTTAATCTCAAGCAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620991
single nucleotide variant	NM_001352514.2(HLCS):c.664C>T (p.Gln222Ter)	HLCS	Pathogenic	21	38309522	38309522	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001352514.2(HLCS):c.691G>T (p.Glu231Ter)	HLCS	Pathogenic	21	38309495	38309495	C	A	criteria provided, single submitter	-
Deletion	NM_001352514.2(HLCS):c.712_713del (p.Arg238fs)	HLCS	Likely pathogenic	21	38309473	38309474	CCT	C	criteria provided, single submitter	-
single nucleotide variant	NM_001352514.2(HLCS):c.857T>A (p.Leu286Ter)	HLCS	Likely pathogenic	21	38309329	38309329	A	T	criteria provided, single submitter	ClinGen:CA10020687
Duplication	NM_001352514.2(HLCS):c.1025dup (p.Tyr342Ter)	HLCS	Pathogenic	21	38309160	38309161	A	AT	criteria provided, single submitter	-
single nucleotide variant	NM_001352514.2(HLCS):c.1045G>T (p.Glu349Ter)	HLCS	Pathogenic	21	38309141	38309141	C	A	criteria provided, single submitter	-
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.1151T>G (p.Leu384Arg)	HLCS	Likely pathogenic	21	38309035	38309035	A	C	criteria provided, single submitter	-