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.2065C>T (p.Gln689Ter)	HLCS	Pathogenic	21	38137369	38137369	G	A	criteria provided, single submitter	ClinGen:CA278518
single nucleotide variant	NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser)	BTD	Pathogenic/Likely pathogenic	3	15686975	15686975	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA312375
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	-
Deletion	NM_001352514.2(HLCS):c.2333del (p.Pro777_Leu778insTer)	HLCS	Pathogenic	21	38128960	38128960	TA	T	criteria provided, single submitter	ClinGen:CA312632
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
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.2446C>T (p.His816Tyr)	HLCS	Pathogenic	21	38128847	38128847	G	A	criteria provided, single submitter	ClinGen:CA10581253
Duplication	NM_001370658.1(BTD):c.1350dup (p.Cys451fs)	BTD	Pathogenic	3	15686771	15686772	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602892
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_001370658.1(BTD):c.-18A>T	BTD	Likely pathogenic	3	15643400	15643400	A	T	criteria provided, single submitter	ClinGen:CA16040904