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.1960+5G>A	HLCS	Pathogenic/Likely pathogenic	21	38139514	38139514	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278023,OMIM:609018.0007
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.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
single nucleotide variant	NM_001370658.1(BTD):c.1211G>C (p.Cys404Ser)	BTD	Pathogenic	3	15686634	15686634	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys)	BTD	Pathogenic/Likely pathogenic	3	15677164	15677164	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA278179
single nucleotide variant	NM_001370658.1(BTD):c.238G>A (p.Ala80Thr)	BTD	Likely pathogenic	3	15677184	15677184	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001370658.1(BTD):c.274G>C (p.Glu92Gln)	BTD	Likely pathogenic	3	15683439	15683439	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA278187
single nucleotide variant	NM_001370658.1(BTD):c.281G>T (p.Gly94Val)	BTD	Pathogenic/Likely pathogenic	3	15683446	15683446	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278191
single nucleotide variant	NM_001370658.1(BTD):c.385T>C (p.Phe129Leu)	BTD	Likely pathogenic	3	15683550	15683550	T	C	criteria provided, single submitter	ClinGen:CA278206
single nucleotide variant	NM_001370658.1(BTD):c.399G>A (p.Glu133=)	BTD	Pathogenic/Likely pathogenic	3	15683564	15683564	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278210