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
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.941G>A (p.Trp314Ter)	ALDOB	Likely pathogenic	9	104187183	104187183	C	T	criteria provided, single submitter	-
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.380-2A>G	ALDOB	Likely pathogenic	9	104189926	104189926	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000035.4(ALDOB):c.380-1G>A	ALDOB	Likely pathogenic	9	104189925	104189925	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.325-1G>A	ALDOB	Likely pathogenic	9	104190806	104190806	C	T	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.112+1del	ALDOB	Likely pathogenic	9	104193057	104193057	AC	A	criteria provided, single submitter	ClinGen:CA16041289
single nucleotide variant	NM_000035.4(ALDOB):c.379+1G>A	ALDOB	Likely pathogenic	9	104190750	104190750	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041287