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
Deletion	NM_001370658.1(BTD):c.58_59del (p.Leu20fs)	BTD	Likely pathogenic	3	15677004	15677005	CCT	C	criteria provided, single submitter	-
single nucleotide variant	NM_001370658.1(BTD):c.124G>A (p.Val42Met)	BTD	Pathogenic/Likely pathogenic	3	15677070	15677070	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278152
single nucleotide variant	NM_001370658.1(BTD):c.175C>T (p.Arg59Cys)	BTD	Pathogenic/Likely pathogenic	3	15677121	15677121	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278016,OMIM:609019.0010
Deletion	NM_001370658.1(BTD):c.206del (p.Asn69fs)	BTD	Pathogenic	3	15677152	15677152	GA	G	criteria provided, single submitter	ClinGen:CA16617839
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	-
Deletion	NM_001370658.1(BTD):c.248del (p.Lys83fs)	BTD	Likely pathogenic	3	15677191	15677191	CA	C	criteria provided, single submitter	ClinGen:CA645509124
single nucleotide variant	NM_001370658.1(BTD):c.249+1G>T	BTD	Likely pathogenic	3	15677196	15677196	G	T	criteria provided, single submitter	ClinGen:CA2277279
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.256C>T (p.Gln86Ter)	BTD	Likely pathogenic	3	15683421	15683421	C	T	criteria provided, multiple submitters, no conflicts	-