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	NM_000152.5(GAA):c.2853del (p.Trp951fs)	GAA	Likely pathogenic	17	78093123	78093123	TG	T	criteria provided, single submitter	-
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.2740C>T (p.Gln914Ter)	GAA	Likely pathogenic	17	78092545	78092545	C	T	reviewed by expert panel	ClinGen:CA401327117
Deletion	NM_000152.5(GAA):c.2706del (p.Lys903fs)	GAA	Pathogenic	17	78092511	78092511	AG	A	reviewed by expert panel	-
Deletion	NM_000152.5(GAA):c.2707_2709del (p.Lys903del)	GAA	Likely pathogenic	17	78092510	78092512	CAGA	C	criteria provided, single submitter	ClinGen:CA116607,OMIM:606800.0007
single nucleotide variant	NM_000152.5(GAA):c.2704C>T (p.Gln902Ter)	GAA	Likely pathogenic	17	78092509	78092509	C	T	reviewed by expert panel	ClinGen:CA16041908
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.2662G>T (p.Glu888Ter)	GAA	Pathogenic	17	78092467	78092467	G	T	reviewed by expert panel	-
Deletion	NM_000152.5(GAA):c.2655_2656del (p.Val886fs)	GAA	Pathogenic	17	78092460	78092461	TCG	T	reviewed by expert panel	-
Deletion	NM_000152.5(GAA):c.2647-1_2648del	GAA	Likely pathogenic	17	78092450	78092452	CAGA	C	criteria provided, single submitter	-