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
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
single nucleotide variant	NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter)	HLCS	Pathogenic/Likely pathogenic	21	38128859	38128859	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser)	BTD	Pathogenic/Likely pathogenic	3	15686975	15686975	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA312375
Indel	NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs)	BTD	Pathogenic/Likely pathogenic	3	15686590	15686604	GGGAAAGGAAGGCTA	TTCCAATGGCC	criteria provided, multiple submitters, no conflicts	ClinGen:CA278470,OMIM:609019.0002
single nucleotide variant	NM_001370658.1(BTD):c.641C>T (p.Thr214Ile)	BTD	Pathogenic/Likely pathogenic	3	15686064	15686064	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278439
Deletion	NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del)	BTD	Pathogenic/Likely pathogenic	3	15686602	15686613	GCTATCTCCACGT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA278384
single nucleotide variant	NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter)	BTD	Pathogenic/Likely pathogenic	3	15686521	15686521	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278383
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.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.569A>G (p.Tyr190Cys)	BTD	Pathogenic/Likely pathogenic	3	15685992	15685992	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA278239