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
Deletion	NM_001370658.1(BTD):c.-18del	BTD	Pathogenic	3	15643400	15643400	CA	C	criteria provided, single submitter	-
Deletion	NM_001370658.1(BTD):c.-17+1del	BTD	Likely pathogenic	3	15643401	15643401	AG	A	criteria provided, single submitter	ClinGen:CA16040908
single nucleotide variant	NM_001370658.1(BTD):c.-17+1G>A	BTD	Likely pathogenic	3	15643402	15643402	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040905
single nucleotide variant	NM_001370658.1(BTD):c.-17+1G>C	BTD	Likely pathogenic	3	15643402	15643402	G	C	criteria provided, single submitter	ClinGen:CA16040906
single nucleotide variant	NM_001370658.1(BTD):c.-17+1G>T	BTD	Likely pathogenic	3	15643402	15643402	G	T	criteria provided, single submitter	ClinGen:CA16040907
Deletion	NM_001370658.1(BTD):c.-17_-17+3del	BTD	Likely pathogenic	3	15643400	15643403	CAGGT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001370658.1(BTD):c.40_41del (p.Gly14fs)	BTD	Pathogenic	3	15676986	15676987	CGG	C	criteria provided, single submitter	ClinGen:CA2277238
Indel	NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)	BTD	Pathogenic	3	15676984	15676990	GCGGCTG	TCC	criteria provided, multiple submitters, no conflicts	ClinGen:CA285306,OMIM:609019.0001
Duplication	NM_001370658.1(BTD):c.47dup (p.Tyr16Ter)	BTD	Pathogenic/Likely pathogenic	3	15676992	15676993	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040909