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.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
Duplication	NM_001370658.1(BTD):c.312_315dup (p.Tyr106fs)	BTD	Likely pathogenic	3	15683476	15683477	C	CCATT	criteria provided, single submitter	ClinGen:CA16040910
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.360G>A (p.Trp120Ter)	BTD	Likely pathogenic	3	15683525	15683525	G	A	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.395C>G (p.Thr132Arg)	BTD	Likely pathogenic	3	15683560	15683560	C	G	criteria provided, single submitter	ClinGen:CA278435
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
single nucleotide variant	NM_001370658.1(BTD):c.400-2A>G	BTD	Likely pathogenic	3	15685821	15685821	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_001370658.1(BTD):c.406C>T (p.Gln136Ter)	BTD	Pathogenic	3	15685829	15685829	C	T	criteria provided, single submitter	ClinGen:CA278213