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.281G>T (p.Gly94Val)	BTD	Pathogenic/Likely pathogenic	3	15683446	15683446	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278191
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.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.406C>T (p.Gln136Ter)	BTD	Pathogenic	3	15685829	15685829	C	T	criteria provided, single submitter	ClinGen:CA278213
single nucleotide variant	NM_001370658.1(BTD):c.409C>T (p.Arg137Cys)	BTD	Pathogenic/Likely pathogenic	3	15685832	15685832	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278215
single nucleotide variant	NM_001370658.1(BTD):c.468G>T (p.Lys156Asn)	BTD	Pathogenic	3	15685891	15685891	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA220325
single nucleotide variant	NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr)	BTD	Pathogenic/Likely pathogenic	3	15685920	15685920	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA220327
single nucleotide variant	NM_001370658.1(BTD):c.535G>A (p.Val179Met)	BTD	Pathogenic/Likely pathogenic	3	15685958	15685958	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278235
single nucleotide variant	NM_001370658.1(BTD):c.571C>T (p.Arg191Cys)	BTD	Pathogenic	3	15685994	15685994	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278241
single nucleotide variant	NM_001370658.1(BTD):c.583C>T (p.Leu195Phe)	BTD	Pathogenic	3	15686006	15686006	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278243