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.444G>A (p.Trp148Ter)	ALDOB	Pathogenic/Likely pathogenic	9	104189860	104189860	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041285
single nucleotide variant	NM_000035.4(ALDOB):c.324+2T>A	ALDOB	Pathogenic/Likely pathogenic	9	104192035	104192035	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041288
single nucleotide variant	NM_000035.4(ALDOB):c.-11+1G>C	ALDOB	Pathogenic/Likely pathogenic	9	104197990	104197990	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA196959550