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.-32-13T>G	GAA	Pathogenic	17	78078341	78078341	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA116606,OMIM:606800.0006
single nucleotide variant	NM_000152.5(GAA):c.-32-3C>A	GAA	Pathogenic/Likely pathogenic	17	78078351	78078351	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041878
single nucleotide variant	NM_000152.5(GAA):c.-32-1G>C	GAA	Likely pathogenic	17	78078353	78078353	G	C	reviewed by expert panel	-
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.4G>T (p.Gly2Ter)	GAA	Likely pathogenic	17	78078389	78078389	G	T	reviewed by expert panel	-
Deletion	NM_000152.5(GAA):c.55del (p.Val19fs)	GAA	Likely pathogenic	17	78078440	78078440	CG	C	reviewed by expert panel	-
single nucleotide variant	NM_000152.5(GAA):c.118C>T (p.Arg40Ter)	GAA	Pathogenic	17	78078503	78078503	C	T	reviewed by expert panel	ClinGen:CA8814791
single nucleotide variant	NM_000152.5(GAA):c.169C>T (p.Gln57Ter)	GAA	Pathogenic	17	78078554	78078554	C	T	reviewed by expert panel	ClinGen:CA16041879
single nucleotide variant	NM_000152.5(GAA):c.172C>T (p.Gln58Ter)	GAA	Pathogenic	17	78078557	78078557	C	T	reviewed by expert panel	ClinGen:CA274104
Deletion	NM_000152.5(GAA):c.236_246del (p.Pro79fs)	GAA	Pathogenic	17	78078615	78078625	GCAGTGCCCACA	G	reviewed by expert panel	ClinGen:CA16041880