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
single nucleotide variant	NM_000152.5(GAA):c.1933G>C (p.Asp645His)	GAA	Pathogenic/Likely pathogenic	17	78086719	78086719	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA274256,UniProtKB:P10253#VAR_004303
single nucleotide variant	NM_000152.5(GAA):c.1441T>C (p.Trp481Arg)	GAA	Pathogenic/Likely pathogenic	17	78084529	78084529	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA274247,UniProtKB:P10253#VAR_004292
single nucleotide variant	NM_000152.5(GAA):c.1A>G (p.Met1Val)	GAA	Pathogenic/Likely pathogenic	17	78078386	78078386	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA273952
single nucleotide variant	NM_000152.5(GAA):c.2237G>C (p.Trp746Ser)	GAA	Pathogenic/Likely pathogenic	17	78090814	78090814	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA198797,UniProtKB:P10253#VAR_068632,ClinVar:561160
single nucleotide variant	NM_000152.5(GAA):c.2105G>T (p.Arg702Leu)	GAA	Pathogenic/Likely pathogenic	17	78087081	78087081	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA220396,UniProtKB:P10253#VAR_068626
single nucleotide variant	NM_000152.5(GAA):c.1561G>A (p.Glu521Lys)	GAA	Pathogenic/Likely pathogenic	17	78084749	78084749	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA116593,UniProtKB:P10253#VAR_004295,OMIM:606800.0003
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.2383G>T (p.Glu795Ter)	GAA	Pathogenic	17	78091450	78091450	G	T	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	-