遺伝性フルクトース不耐症

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_000035.4(ALDOB):c.1005C>G (p.Asn335Lys)	ALDOB	Pathogenic	9	104184181	104184181	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA339812,UniProtKB:P05062#VAR_000557,OMIM:612724.0006
single nucleotide variant	NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp)	ALDOB	Pathogenic	9	104189780	104189780	G	T	criteria provided, multiple submitters, no conflicts	OMIM:612724.0002,ClinGen:CA339811,UniProtKB:P05062#VAR_000554
single nucleotide variant	NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)	ALDOB	Pathogenic	9	104189856	104189856	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA339810,UniProtKB:P05062#VAR_000553,OMIM:612724.0001