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
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.-11+1G>C	ALDOB	Pathogenic/Likely pathogenic	9	104197990	104197990	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA196959550
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.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.379+1G>A	ALDOB	Likely pathogenic	9	104190750	104190750	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041287
Deletion	NM_000035.4(ALDOB):c.420del (p.Asp141fs)	ALDOB	Likely pathogenic	9	104189884	104189884	CT	C	criteria provided, single submitter	ClinGen:CA16041286
single nucleotide variant	NM_000035.4(ALDOB):c.444G>A (p.Trp148Ter)	ALDOB	Pathogenic/Likely pathogenic	9	104189860	104189860	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041285
Deletion	NM_000035.4(ALDOB):c.546del (p.Leu183fs)	ALDOB	Likely pathogenic	9	104188915	104188915	GT	G	criteria provided, single submitter	ClinGen:CA16041284