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_001370658.1(BTD):c.-18A>T	BTD	Likely pathogenic	3	15643400	15643400	A	T	criteria provided, single submitter	ClinGen:CA16040904
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.838A>C (p.Asn280His)	BTD	Likely pathogenic	3	15686261	15686261	A	C	criteria provided, single submitter	ClinGen:CA278441
single nucleotide variant	NM_001370658.1(BTD):c.395C>G (p.Thr132Arg)	BTD	Likely pathogenic	3	15683560	15683560	C	G	criteria provided, single submitter	ClinGen:CA278435
Duplication	NM_001370658.1(BTD):c.1334dup (p.Leu446fs)	BTD	Likely pathogenic	3	15686752	15686753	T	TG	criteria provided, single submitter	ClinGen:CA278397
single nucleotide variant	NM_001370658.1(BTD):c.1559A>G (p.Tyr520Cys)	BTD	Likely pathogenic	3	15686982	15686982	A	G	criteria provided, single submitter	ClinGen:CA278359
single nucleotide variant	NM_001370658.1(BTD):c.1253A>G (p.Tyr418Cys)	BTD	Likely pathogenic	3	15686676	15686676	A	G	criteria provided, single submitter	-
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.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.238G>A (p.Ala80Thr)	BTD	Likely pathogenic	3	15677184	15677184	G	A	criteria provided, single submitter	-