糖原病II型 (ポンペ病)

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
Deletion	NC_000017.11:g.(?_80118183)_(80118367_?)del	GAA	Pathogenic	17	78091982	78092166	na	na	criteria provided, single submitter	-
Deletion	NM_000152.5(GAA):c.2481+110_2646+39del	GAA	Pathogenic	17	78091650	78092187	GAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGC	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000152.5(GAA):c.1438-1G>T	GAA	Pathogenic/Likely pathogenic	17	78084525	78084525	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000152.5(GAA):c.2383G>T (p.Glu795Ter)	GAA	Pathogenic	17	78091450	78091450	G	T	reviewed by expert panel	-
single nucleotide variant	NM_000152.5(GAA):c.1941C>A (p.Cys647Ter)	GAA	Likely pathogenic	17	78086727	78086727	C	A	reviewed by expert panel	-
single nucleotide variant	NM_000152.5(GAA):c.1798C>T (p.Arg600Cys)	GAA	Pathogenic	17	78086420	78086420	C	T	reviewed by expert panel	-
single nucleotide variant	NM_000152.5(GAA):c.1585T>C (p.Ser529Pro)	GAA	Pathogenic	17	78084773	78084773	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000152.5(GAA):c.1210G>A (p.Asp404Asn)	GAA	Pathogenic	17	78082511	78082511	G	A	reviewed by expert panel	-
Deletion	NM_000152.5(GAA):c.806_830del (p.Leu269fs)	GAA	Likely pathogenic	17	78081468	78081492	GCTCAGCACCAGCTGGACCAGGATCA	G	reviewed by expert panel	-
single nucleotide variant	NM_000152.5(GAA):c.671G>A (p.Arg224Gln)	GAA	Pathogenic/Likely pathogenic	17	78079672	78079672	G	A	criteria provided, multiple submitters, no conflicts	-