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.1801G>A (p.Glu601Lys)	SLC25A13	Likely pathogenic	7	95751007	95751007	C	T	criteria provided, single submitter	ClinGen:CA342154,UniProtKB:Q9UJS0#VAR_016601
single nucleotide variant	NM_014251.3(SLC25A13):c.1813C>T (p.Arg605Ter)	SLC25A13	Pathogenic/Likely pathogenic	7	95750995	95750995	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA342157