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	-
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	-
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	-
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	-