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.420del (p.Asp141fs)	ALDOB	Likely pathogenic	9	104189884	104189884	CT	C	criteria provided, single submitter	ClinGen:CA16041286
Deletion	NM_000035.4(ALDOB):c.546del (p.Leu183fs)	ALDOB	Likely pathogenic	9	104188915	104188915	GT	G	criteria provided, single submitter	ClinGen:CA16041284
single nucleotide variant	NM_000035.4(ALDOB):c.625-2A>G	ALDOB	Likely pathogenic	9	104187911	104187911	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA199078