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.1177+1G>A	SLC25A13	Pathogenic	7	95813588	95813588	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA253674,OMIM:603859.0002
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
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.1311+1G>A	SLC25A13	Pathogenic	7	95799356	95799356	C	T	criteria provided, single submitter	ClinGen:CA340500,OMIM:603859.0005
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.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.1592G>A (p.Gly531Asp)	SLC25A13	Likely pathogenic	7	95751309	95751309	C	T	criteria provided, single submitter	ClinGen:CA342150
single nucleotide variant	NM_014251.3(SLC25A13):c.15G>A (p.Lys5=)	SLC25A13	Pathogenic	7	95951254	95951254	C	T	criteria provided, single submitter	ClinGen:CA342152
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