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
Deletion	NM_001370658.1(BTD):c.932_941del (p.His311fs)	BTD	Pathogenic/Likely pathogenic	3	15686355	15686364	CACCTTATAAT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001370658.1(BTD):c.1025T>A (p.Leu342Ter)	BTD	Pathogenic/Likely pathogenic	3	15686448	15686448	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001370658.1(BTD):c.1066C>T (p.Gln356Ter)	BTD	Pathogenic	3	15686489	15686489	C	T	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	-
Deletion	NM_001370658.1(BTD):c.1292_1293del (p.Gly431fs)	BTD	Pathogenic/Likely pathogenic	3	15686715	15686716	GGC	G	criteria provided, multiple submitters, no conflicts	-