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.896T>G (p.Leu299Arg)	GAA	Likely pathogenic	17	78081636	78081636	T	G	reviewed by expert panel	UniProtKB:P10253#VAR_004288,OMIM:606800.0008,ClinGen:CA116601
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.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.1843G>A (p.Gly615Arg)	GAA	Likely pathogenic	17	78086465	78086465	G	A	reviewed by expert panel	ClinGen:CA273955,UniProtKB:P10253#VAR_008690
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
single nucleotide variant	NM_000152.5(GAA):c.1194+3G>C	GAA	Likely pathogenic	17	78082409	78082409	G	C	reviewed by expert panel	ClinGen:CA247031
single nucleotide variant	NM_000152.5(GAA):c.853C>T (p.Pro285Ser)	GAA	Likely pathogenic	17	78081516	78081516	C	T	reviewed by expert panel	ClinGen:CA10603793,UniProtKB:P10253#VAR_068582
single nucleotide variant	NM_000152.5(GAA):c.1124G>T (p.Arg375Leu)	GAA	Likely pathogenic	17	78082336	78082336	G	T	reviewed by expert panel	UniProtKB:P10253#VAR_046469,ClinGen:CA8815178
single nucleotide variant	NM_000152.5(GAA):c.841C>T (p.Arg281Trp)	GAA	Likely pathogenic	17	78081504	78081504	C	T	reviewed by expert panel	ClinGen:CA8815025
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