複合カルボキシラーゼ欠損症

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_001352514.2(HLCS):c.857T>A (p.Leu286Ter)	HLCS	Likely pathogenic	21	38309329	38309329	A	T	criteria provided, single submitter	ClinGen:CA10020687
Deletion	NM_001370658.1(BTD):c.40_41del (p.Gly14fs)	BTD	Pathogenic	3	15676986	15676987	CGG	C	criteria provided, single submitter	ClinGen:CA2277238
Deletion	NM_001370658.1(BTD):c.206del (p.Asn69fs)	BTD	Pathogenic	3	15677152	15677152	GA	G	criteria provided, single submitter	ClinGen:CA16617839
Indel	NM_001352514.2(HLCS):c.569_585delinsTTGCTTGAGATTAAGCCTGAGATTAAGG (p.Pro190_Ser195delinsLeuAlaTer)	HLCS	Likely pathogenic	21	38309601	38309617	AGAAGGTTCAGGCTTCG	CCTTAATCTCAGGCTTAATCTCAAGCAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620991
single nucleotide variant	NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter)	HLCS	Pathogenic	21	38132130	38132130	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10020346
Deletion	NM_001370658.1(BTD):c.248del (p.Lys83fs)	BTD	Likely pathogenic	3	15677191	15677191	CA	C	criteria provided, single submitter	ClinGen:CA645509124
single nucleotide variant	NM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter)	HLCS	Pathogenic/Likely pathogenic	21	38302595	38302595	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA409911138
Deletion	NM_001370658.1(BTD):c.527del (p.Thr176fs)	BTD	Pathogenic/Likely pathogenic	3	15685950	15685950	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796245
single nucleotide variant	NM_001370658.1(BTD):c.256C>T (p.Gln86Ter)	BTD	Likely pathogenic	3	15683421	15683421	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001370658.1(BTD):c.360G>A (p.Trp120Ter)	BTD	Likely pathogenic	3	15683525	15683525	G	A	criteria provided, single submitter	-