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.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.1429C>T (p.Pro477Ser)	BTD	Pathogenic	3	15686852	15686852	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA220317
Duplication	NM_001370658.1(BTD):c.1433dup (p.Leu478fs)	BTD	Pathogenic	3	15686853	15686854	C	CT	criteria provided, single submitter	-
single nucleotide variant	NM_001370658.1(BTD):c.1553G>A (p.Arg518His)	BTD	Pathogenic/Likely pathogenic	3	15686976	15686976	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278356
single nucleotide variant	NM_001370658.1(BTD):c.1559A>G (p.Tyr520Cys)	BTD	Likely pathogenic	3	15686982	15686982	A	G	criteria provided, single submitter	ClinGen:CA278359
single nucleotide variant	NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu)	BTD	Pathogenic/Likely pathogenic	3	15686992	15686992	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA220321
single nucleotide variant	NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys)	BTD	Pathogenic/Likely pathogenic	3	15685992	15685992	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA278239
single nucleotide variant	NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr)	BTD	Pathogenic/Likely pathogenic	3	15686097	15686097	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278252
single nucleotide variant	NM_001370658.1(BTD):c.410G>A (p.Arg137His)	BTD	Pathogenic	3	15685833	15685833	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA220323
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