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.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.70-1G>A	SLC25A13	Pathogenic/Likely pathogenic	7	95906651	95906651	C	T	criteria provided, multiple submitters, no conflicts	-