複合カルボキシラーゼ欠損症

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.522C>G (p.Phe174Leu)	BTD	Pathogenic	3	15685945	15685945	C	G	criteria provided, single submitter	-
Deletion	NM_001370658.1(BTD):c.333del (p.Phe111fs)	BTD	Likely pathogenic	3	15683498	15683498	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_001370658.1(BTD):c.419G>T (p.Cys140Phe)	BTD	Pathogenic	3	15685842	15685842	G	T	criteria provided, single submitter	-
Deletion	NM_001370658.1(BTD):c.1419del (p.Tyr474fs)	BTD	Pathogenic	3	15686841	15686841	TC	T	criteria provided, single submitter	-
Deletion	NM_001370658.1(BTD):c.941_942del (p.Ile314fs)	BTD	Pathogenic/Likely pathogenic	3	15686364	15686365	ATT	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001370658.1(BTD):c.250-1G>T	BTD	Likely pathogenic	3	15683414	15683414	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_001370658.1(BTD):c.1400G>A (p.Trp467Ter)	BTD	Likely pathogenic	3	15686823	15686823	G	A	criteria provided, single submitter	-
Deletion	NM_001370658.1(BTD):c.58_59del (p.Leu20fs)	BTD	Likely pathogenic	3	15677004	15677005	CCT	C	criteria provided, single submitter	-
Deletion	NM_001370658.1(BTD):c.1292_1293del (p.Gly431fs)	BTD	Pathogenic/Likely pathogenic	3	15686715	15686716	GGC	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001370658.1(BTD):c.-17_-17+3del	BTD	Likely pathogenic	3	15643400	15643403	CAGGT	C	criteria provided, multiple submitters, no conflicts	-