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.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.379+1G>A	ALDOB	Likely pathogenic	9	104190750	104190750	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041287
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.324+2T>A	ALDOB	Pathogenic/Likely pathogenic	9	104192035	104192035	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041288
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
single nucleotide variant	NM_000035.4(ALDOB):c.324G>A (p.Lys108=)	ALDOB	Pathogenic/Likely pathogenic	9	104192037	104192037	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA199056
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	-
single nucleotide variant	NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter)	ALDOB	Pathogenic/Likely pathogenic	9	104192183	104192183	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA339813,OMIM:612724.0009
Deletion	NM_000035.4(ALDOB):c.113-1_115del	ALDOB	Pathogenic/Likely pathogenic	9	104192246	104192249	GTACC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA199107