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.1813C>T (p.Arg605Ter)	SLC25A13	Pathogenic/Likely pathogenic	7	95750995	95750995	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA342157
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.1801G>T (p.Glu601Ter)	SLC25A13	Pathogenic	7	95751007	95751007	C	A	criteria provided, single submitter	ClinGen:CA342155
Duplication	NM_014251.3(SLC25A13):c.1799dup (p.Tyr600Ter)	SLC25A13	Pathogenic	7	95751008	95751009	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA253675,OMIM:603859.0006
single nucleotide variant	NM_014251.3(SLC25A13):c.1762C>T (p.Arg588Ter)	SLC25A13	Pathogenic	7	95751046	95751046	G	A	criteria provided, single submitter	-
Deletion	NM_014251.3(SLC25A13):c.1712del (p.Arg571fs)	SLC25A13	Pathogenic	7	95751189	95751189	AC	A	criteria provided, single submitter	ClinGen:CA658657696
Duplication	NM_014251.3(SLC25A13):c.1638_1660dup (p.Ala554fs)	SLC25A13	Pathogenic	7	95751240	95751241	G	GCCCGGGCAGCCACCTGTAATCTC	criteria provided, multiple submitters, no conflicts	ClinGen:CA340497,OMIM:603859.0003
Deletion	NM_014251.3(SLC25A13):c.1631del (p.Ile544fs)	SLC25A13	Pathogenic	7	95751270	95751270	GA	G	criteria provided, single submitter	-
single nucleotide variant	NM_014251.3(SLC25A13):c.1592G>A (p.Gly531Asp)	SLC25A13	Likely pathogenic	7	95751309	95751309	C	T	criteria provided, single submitter	ClinGen:CA342150
Deletion	NM_014251.3(SLC25A13):c.1375del (p.Ala459fs)	SLC25A13	Pathogenic	7	95775945	95775945	GC	G	criteria provided, single submitter	-