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.649G>A (p.Ala217Thr)	BTD	Pathogenic	3	15686072	15686072	G	A	criteria provided, single submitter	ClinGen:CA278250
single nucleotide variant	NM_001370658.1(BTD):c.754T>G (p.Trp252Gly)	BTD	Pathogenic	3	15686177	15686177	T	G	criteria provided, single submitter	ClinGen:CA278262
single nucleotide variant	NM_001370658.1(BTD):c.772C>G (p.Leu258Val)	BTD	Pathogenic	3	15686195	15686195	C	G	criteria provided, single submitter	ClinGen:CA278264
Deletion	NM_001370658.1(BTD):c.873del (p.Ser291fs)	BTD	Pathogenic/Likely pathogenic	3	15686296	15686296	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA278280
Deletion	NM_001370658.1(BTD):c.992del (p.Thr331fs)	BTD	Pathogenic	3	15686415	15686415	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278288
single nucleotide variant	NM_001370658.1(BTD):c.1274G>T (p.Gly425Val)	BTD	Pathogenic	3	15686697	15686697	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278330
single nucleotide variant	NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser)	BTD	Pathogenic/Likely pathogenic	3	15686616	15686616	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA278309
single nucleotide variant	NM_001370658.1(BTD):c.1211G>A (p.Cys404Tyr)	BTD	Pathogenic/Likely pathogenic	3	15686634	15686634	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278316
single nucleotide variant	NM_001370658.1(BTD):c.1253A>G (p.Tyr418Cys)	BTD	Likely pathogenic	3	15686676	15686676	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_001370658.1(BTD):c.1254T>A (p.Tyr418Ter)	BTD	Pathogenic/Likely pathogenic	3	15686677	15686677	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278326