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.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.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.964G>T (p.Glu322Ter)	ALDOB	Likely pathogenic	9	104187160	104187160	C	A	criteria provided, single submitter	-
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	-
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
Deletion	NM_000035.4(ALDOB):c.865del (p.Leu289fs)	ALDOB	Pathogenic	9	104187259	104187259	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA347831
Deletion	NM_000035.4(ALDOB):c.812del (p.Leu271fs)	ALDOB	Likely pathogenic	9	104187312	104187312	CA	C	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
Duplication	NM_000035.4(ALDOB):c.712dup (p.His238fs)	ALDOB	Likely pathogenic	9	104187821	104187822	T	TG	criteria provided, single submitter	-