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.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.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.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.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.178C>T (p.Arg60Ter)	ALDOB	Pathogenic/Likely pathogenic	9	104192183	104192183	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA339813,OMIM:612724.0009
single nucleotide variant	NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val)	ALDOB	Pathogenic/Likely pathogenic	9	104184173	104184173	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA199050,UniProtKB:P05062#VAR_000558
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.324G>A (p.Lys108=)	ALDOB	Pathogenic/Likely pathogenic	9	104192037	104192037	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA199056
Deletion	NM_000035.4(ALDOB):c.113-1_115del	ALDOB	Pathogenic/Likely pathogenic	9	104192246	104192249	GTACC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA199107