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
Deletion	NM_000035.4(ALDOB):c.112+1del	ALDOB	Likely pathogenic	9	104193057	104193057	AC	A	criteria provided, single submitter	ClinGen:CA16041289
single nucleotide variant	NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter)	ALDOB	Pathogenic/Likely pathogenic	9	104193160	104193160	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA114310,OMIM:612724.0008
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