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.612T>G (p.Tyr204Ter)	ALDOB	Pathogenic	9	104188849	104188849	A	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000035.4(ALDOB):c.302del (p.Lys101fs)	ALDOB	Pathogenic	9	104192059	104192059	CT	C	criteria provided, multiple submitters, no conflicts	-
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.324+1G>A	ALDOB	Pathogenic	9	104192036	104192036	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA347812
Deletion	NM_000035.4(ALDOB):c.865del (p.Leu289fs)	ALDOB	Pathogenic	9	104187259	104187259	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA347831
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.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.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
Deletion	NM_000035.4(ALDOB):c.287del (p.Asn96fs)	ALDOB	Likely pathogenic	9	104192074	104192074	GT	G	criteria provided, single submitter	-
Duplication	NM_000035.4(ALDOB):c.712dup (p.His238fs)	ALDOB	Likely pathogenic	9	104187821	104187822	T	TG	criteria provided, single submitter	-