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.953T>C (p.Met318Thr)	GAA	Pathogenic	17	78081693	78081693	T	C	reviewed by expert panel	ClinGen:CA116590,UniProtKB:P10253#VAR_004289,OMIM:606800.0002
single nucleotide variant	NM_000152.5(GAA):c.1561G>A (p.Glu521Lys)	GAA	Pathogenic/Likely pathogenic	17	78084749	78084749	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA116593,UniProtKB:P10253#VAR_004295,OMIM:606800.0003
single nucleotide variant	NM_000152.5(GAA):c.1927G>A (p.Gly643Arg)	GAA	Pathogenic	17	78086713	78086713	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA116596,UniProtKB:P10253#VAR_004301,OMIM:606800.0004
single nucleotide variant	NM_000152.5(GAA):c.2173C>T (p.Arg725Trp)	GAA	Pathogenic	17	78087149	78087149	C	T	criteria provided, multiple submitters, no conflicts	OMIM:606800.0005,ClinGen:CA116598,UniProtKB:P10253#VAR_004310
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
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
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.1935C>A (p.Asp645Glu)	GAA	Pathogenic	17	78086721	78086721	C	A	reviewed by expert panel	ClinGen:CA116610,UniProtKB:P10253#VAR_004302,OMIM:606800.0010
single nucleotide variant	NM_000152.5(GAA):c.1634C>T (p.Pro545Leu)	GAA	Pathogenic	17	78084822	78084822	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA116616,UniProtKB:P10253#VAR_004297,OMIM:606800.0013
Deletion	NM_000152.5(GAA):c.525del (p.Glu176fs)	GAA	Pathogenic	17	78078910	78078910	CT	C	reviewed by expert panel	ClinGen:CA220406,OMIM:606800.0014