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.1429C>T (p.Pro477Ser)	BTD	Pathogenic	3	15686852	15686852	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA220317
Deletion	NM_001370658.1(BTD):c.1419del (p.Tyr474fs)	BTD	Pathogenic	3	15686841	15686841	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_001370658.1(BTD):c.1401G>A (p.Trp467Ter)	BTD	Likely pathogenic	3	15686824	15686824	G	A	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.1399del (p.Trp467fs)	BTD	Pathogenic/Likely pathogenic	3	15686822	15686822	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA278346
single nucleotide variant	NM_001370658.1(BTD):c.1399T>C (p.Trp467Arg)	BTD	Pathogenic	3	15686822	15686822	T	C	criteria provided, single submitter	ClinGen:CA278344
Deletion	NM_001370658.1(BTD):c.1396_1415del (p.Leu466fs)	BTD	Likely pathogenic	3	15686817	15686836	CACCTGTGGGGCAACTTCAGT	C	criteria provided, single submitter	-
single nucleotide variant	NM_001370658.1(BTD):c.1387G>T (p.Glu463Ter)	BTD	Pathogenic	3	15686810	15686810	G	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001370658.1(BTD):c.1350dup (p.Cys451fs)	BTD	Pathogenic	3	15686771	15686772	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602892
Duplication	NM_001370658.1(BTD):c.1334dup (p.Leu446fs)	BTD	Likely pathogenic	3	15686752	15686753	T	TG	criteria provided, single submitter	ClinGen:CA278397