シトリン欠損症

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_014251.3(SLC25A13):c.1311+1G>A	SLC25A13	Pathogenic	7	95799356	95799356	C	T	criteria provided, single submitter	ClinGen:CA340500,OMIM:603859.0005
single nucleotide variant	NM_014251.3(SLC25A13):c.1177+1G>A	SLC25A13	Pathogenic	7	95813588	95813588	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA253674,OMIM:603859.0002
single nucleotide variant	NM_014251.3(SLC25A13):c.1078C>T (p.Arg360Ter)	SLC25A13	Pathogenic/Likely pathogenic	7	95813688	95813688	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA342148
single nucleotide variant	NM_014251.3(SLC25A13):c.955C>T (p.Arg319Ter)	SLC25A13	Pathogenic	7	95814302	95814302	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042703
Deletion	NM_014251.3(SLC25A13):c.852_855del (p.Met285fs)	SLC25A13	Pathogenic	7	95818684	95818687	TCATA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA253673,OMIM:603859.0001
single nucleotide variant	NM_014251.3(SLC25A13):c.775C>T (p.Gln259Ter)	SLC25A13	Pathogenic	7	95818966	95818966	G	A	criteria provided, single submitter	ClinGen:CA10586126
single nucleotide variant	NM_014251.3(SLC25A13):c.674C>A (p.Ser225Ter)	SLC25A13	Pathogenic	7	95820501	95820501	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA340498,OMIM:603859.0004
single nucleotide variant	NM_014251.3(SLC25A13):c.615+5G>A	SLC25A13	Pathogenic/Likely pathogenic	7	95822344	95822344	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA342162
single nucleotide variant	NM_014251.3(SLC25A13):c.550C>T (p.Arg184Ter)	SLC25A13	Pathogenic	7	95822414	95822414	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA342159
single nucleotide variant	NM_014251.3(SLC25A13):c.468+5G>A	SLC25A13	Likely pathogenic	7	95838145	95838145	C	T	criteria provided, single submitter	ClinGen:CA645372449