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.2646+2T>A	GAA	Likely pathogenic	17	78092158	78092158	T	A	reviewed by expert panel	ClinGen:CA274134
Duplication	NM_000152.5(GAA):c.2617dup (p.Tyr873fs)	GAA	Likely pathogenic	17	78092126	78092127	C	CT	reviewed by expert panel	-
single nucleotide variant	NM_000152.5(GAA):c.2608C>T (p.Arg870Ter)	GAA	Pathogenic	17	78092118	78092118	C	T	reviewed by expert panel	ClinGen:CA274250
single nucleotide variant	NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)	GAA	Pathogenic	17	78092070	78092070	C	T	reviewed by expert panel	ClinGen:CA340130,OMIM:606800.0015
Deletion	NM_000152.5(GAA):c.2544del (p.Lys849fs)	GAA	Pathogenic	17	78092053	78092053	AC	A	reviewed by expert panel	ClinGen:CA220403
single nucleotide variant	NM_000152.5(GAA):c.2512C>T (p.Gln838Ter)	GAA	Pathogenic	17	78092022	78092022	C	T	reviewed by expert panel	ClinGen:CA220400
Deletion	NC_000017.11:g.(?_80118193)_(80118357_?)del	GAA	Pathogenic	17	78091992	78092156	na	na	criteria provided, single submitter	-
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.2456G>A (p.Arg819Gln)	GAA	Likely pathogenic	17	78091523	78091523	G	A	criteria provided, single submitter	ClinGen:CA8815747