糖原病II型 (ポンペ病)

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_000152.5(GAA):c.2799+4A>G	GAA	Likely pathogenic	17	78092608	78092608	A	G	reviewed by expert panel	ClinGen:CA8815855
single nucleotide variant	NM_000152.5(GAA):c.1754+1G>A	GAA	Pathogenic	17	78085900	78085900	G	A	reviewed by expert panel	ClinGen:CA10605471
single nucleotide variant	NM_000152.5(GAA):c.1841C>T (p.Thr614Met)	GAA	Likely pathogenic	17	78086463	78086463	C	T	reviewed by expert panel	ClinGen:CA8815496
Deletion	NM_000152.5(GAA):c.736del (p.Leu246fs)	GAA	Likely pathogenic	17	78081398	78081398	TC	T	reviewed by expert panel	ClinGen:CA10606113
single nucleotide variant	NM_000152.5(GAA):c.1781G>C (p.Arg594Pro)	GAA	Likely pathogenic	17	78086403	78086403	G	C	reviewed by expert panel	ClinGen:CA8815476,UniProtKB:P10253#VAR_068613
Duplication	NM_000152.5(GAA):c.2704_2716dup (p.Val906fs)	GAA	Pathogenic	17	78092505	78092506	G	GCTGCAGAAGGTGA	criteria provided, single submitter	ClinGen:CA10654927
single nucleotide variant	NM_000152.5(GAA):c.-32-3C>A	GAA	Pathogenic/Likely pathogenic	17	78078351	78078351	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041878
single nucleotide variant	NM_000152.5(GAA):c.169C>T (p.Gln57Ter)	GAA	Pathogenic	17	78078554	78078554	C	T	reviewed by expert panel	ClinGen:CA16041879
Deletion	NM_000152.5(GAA):c.236_246del (p.Pro79fs)	GAA	Pathogenic	17	78078615	78078625	GCAGTGCCCACA	G	reviewed by expert panel	ClinGen:CA16041880
Deletion	NM_000152.5(GAA):c.281_282del (p.Pro94fs)	GAA	Likely pathogenic	17	78078666	78078667	CCT	C	reviewed by expert panel	ClinGen:CA16041881