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.625-2A>G	ALDOB	Likely pathogenic	9	104187911	104187911	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA199078
single nucleotide variant	NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter)	ALDOB	Pathogenic/Likely pathogenic	9	104188849	104188849	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA199058
single nucleotide variant	NM_000035.4(ALDOB):c.612T>G (p.Tyr204Ter)	ALDOB	Pathogenic	9	104188849	104188849	A	C	criteria provided, multiple submitters, no conflicts	-
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.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.522C>G (p.Tyr174Ter)	ALDOB	Pathogenic	9	104189782	104189782	G	C	criteria provided, multiple submitters, no conflicts	-
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
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
Deletion	NM_000035.4(ALDOB):c.420del (p.Asp141fs)	ALDOB	Likely pathogenic	9	104189884	104189884	CT	C	criteria provided, single submitter	ClinGen:CA16041286
single nucleotide variant	NM_000035.4(ALDOB):c.380-1G>A	ALDOB	Likely pathogenic	9	104189925	104189925	C	T	criteria provided, single submitter	-