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
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
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_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	-
Deletion	NM_001370658.1(BTD):c.1396_1415del (p.Leu466fs)	BTD	Likely pathogenic	3	15686817	15686836	CACCTGTGGGGCAACTTCAGT	C	criteria provided, single submitter	-
Indel	NM_001370658.1(BTD):c.589_591delinsAGTA (p.Phe197fs)	BTD	Likely pathogenic	3	15686012	15686014	TTT	AGTA	criteria provided, single submitter	-
Duplication	NM_001370658.1(BTD):c.1298dup (p.Tyr433Ter)	BTD	Likely pathogenic	3	15686720	15686721	T	TA	criteria provided, single submitter	-
single nucleotide variant	NM_001370658.1(BTD):c.1401G>A (p.Trp467Ter)	BTD	Likely pathogenic	3	15686824	15686824	G	A	criteria provided, single submitter	-
Duplication	NM_001370658.1(BTD):c.1495dup (p.Tyr499fs)	BTD	Likely pathogenic	3	15686917	15686918	C	CT	criteria provided, single submitter	-
Deletion	NM_001370658.1(BTD):c.-17_-17+3del	BTD	Likely pathogenic	3	15643400	15643403	CAGGT	C	criteria provided, multiple submitters, no conflicts	-