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	-
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.625-2A>G	ALDOB	Likely pathogenic	9	104187911	104187911	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA199078
Duplication	NM_000035.4(ALDOB):c.712dup (p.His238fs)	ALDOB	Likely pathogenic	9	104187821	104187822	T	TG	criteria provided, single submitter	-
single nucleotide variant	NM_000035.4(ALDOB):c.800-2A>C	ALDOB	Likely pathogenic	9	104187326	104187326	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA5161455
Deletion	NM_000035.4(ALDOB):c.812del (p.Leu271fs)	ALDOB	Likely pathogenic	9	104187312	104187312	CA	C	criteria provided, single submitter	-
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.888G>A (p.Trp296Ter)	ALDOB	Pathogenic/Likely pathogenic	9	104187236	104187236	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041283
single nucleotide variant	NM_000035.4(ALDOB):c.941G>A (p.Trp314Ter)	ALDOB	Likely pathogenic	9	104187183	104187183	C	T	criteria provided, single submitter	-
Duplication	NM_000035.4(ALDOB):c.940dup (p.Trp314fs)	ALDOB	Likely pathogenic	9	104187183	104187184	C	CA	criteria provided, single submitter	-