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.1621-2A>G	HLCS	Likely pathogenic	21	38269433	38269433	T	C	criteria provided, single submitter	-
Duplication	NM_001352514.2(HLCS):c.2280dup (p.Asn761fs)	HLCS	Likely pathogenic	21	38129012	38129013	T	TG	criteria provided, single submitter	-
single nucleotide variant	NM_001352514.2(HLCS):c.2527C>T (p.Gln843Ter)	HLCS	Likely pathogenic	21	38126642	38126642	G	A	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.2134C>T (p.Arg712Ter)	HLCS	Pathogenic	21	38132130	38132130	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10020346
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.857T>A (p.Leu286Ter)	HLCS	Likely pathogenic	21	38309329	38309329	A	T	criteria provided, single submitter	ClinGen:CA10020687
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
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
single nucleotide variant	NM_001352514.2(HLCS):c.664C>T (p.Gln222Ter)	HLCS	Pathogenic	21	38309522	38309522	G	A	criteria provided, single submitter	-