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.1004G>A (p.Gly335Glu)	GAA	Pathogenic	17	78082137	78082137	G	A	criteria provided, single submitter	ClinGen:CA273683,UniProtKB:P10253#VAR_068589
Duplication	NM_000152.5(GAA):c.2078dup (p.Ala694fs)	GAA	Pathogenic	17	78087053	78087054	C	CA	criteria provided, single submitter	ClinGen:CA273685
single nucleotide variant	NM_000152.5(GAA):c.896T>C (p.Leu299Pro)	GAA	Pathogenic	17	78081636	78081636	T	C	reviewed by expert panel	ClinGen:CA273686
single nucleotide variant	NM_000152.5(GAA):c.1437G>A (p.Lys479=)	GAA	Likely pathogenic	17	78083854	78083854	G	A	criteria provided, single submitter	ClinGen:CA275914
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.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.172C>T (p.Gln58Ter)	GAA	Pathogenic	17	78078557	78078557	C	T	reviewed by expert panel	ClinGen:CA274104
single nucleotide variant	NM_000152.5(GAA):c.343C>T (p.Gln115Ter)	GAA	Pathogenic	17	78078728	78078728	C	T	reviewed by expert panel	ClinGen:CA274228
Deletion	NM_000152.5(GAA):c.365del (p.Met122fs)	GAA	Pathogenic	17	78078750	78078750	AT	A	reviewed by expert panel	ClinGen:CA274330
Deletion	NM_000152.5(GAA):c.525_526del (p.Asn177fs)	GAA	Pathogenic	17	78078910	78078911	CTG	C	reviewed by expert panel	ClinGen:CA274328