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
Deletion	NM_000152.5(GAA):c.437del (p.Met146fs)	GAA	Pathogenic	17	78078822	78078822	AT	A	reviewed by expert panel	-
Duplication	NM_000152.5(GAA):c.768dup (p.Ile257fs)	GAA	Likely pathogenic	17	78081430	78081431	A	AT	reviewed by expert panel	-
Deletion	NM_000152.5(GAA):c.716del (p.Leu239fs)	GAA	Pathogenic	17	78081379	78081379	CT	C	reviewed by expert panel	-
Duplication	NM_000152.5(GAA):c.755dup (p.Pro253fs)	GAA	Pathogenic	17	78081417	78081418	C	CT	reviewed by expert panel	-
single nucleotide variant	NM_000152.5(GAA):c.1076-1G>A	GAA	Likely pathogenic	17	78082287	78082287	G	A	criteria provided, single submitter	LOVD 3:GAA_000529,OMIM:606800.0018
single nucleotide variant	NM_000152.5(GAA):c.989G>A (p.Trp330Ter)	GAA	Pathogenic	17	78082122	78082122	G	A	reviewed by expert panel	-
single nucleotide variant	NM_000152.5(GAA):c.1496G>A (p.Trp499Ter)	GAA	Pathogenic	17	78084584	78084584	G	A	reviewed by expert panel	-
single nucleotide variant	NM_000152.5(GAA):c.1195-1G>A	GAA	Likely pathogenic	17	78082495	78082495	G	A	criteria provided, single submitter	-
Duplication	NM_000152.5(GAA):c.1292_1295dup (p.Gln433fs)	GAA	Pathogenic	17	78082592	78082593	C	CTGCA	reviewed by expert panel	-
single nucleotide variant	NM_000152.5(GAA):c.1437+1G>A	GAA	Pathogenic/Likely pathogenic	17	78083855	78083855	G	A	criteria provided, multiple submitters, no conflicts	-