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.2560C>T (p.Arg854Ter)	GAA	Pathogenic	17	78092070	78092070	C	T	reviewed by expert panel	ClinGen:CA340130,OMIM:606800.0015
single nucleotide variant	NM_000152.5(GAA):c.877G>A (p.Gly293Arg)	GAA	Pathogenic	17	78081617	78081617	G	A	reviewed by expert panel	ClinGen:CA116622,UniProtKB:P10253#VAR_018082,OMIM:606800.0017
single nucleotide variant	NM_000152.5(GAA):c.1465G>A (p.Asp489Asn)	GAA	Pathogenic	17	78084553	78084553	G	A	reviewed by expert panel	ClinGen:CA220390,UniProtKB:P10253#VAR_029037
single nucleotide variant	NM_000152.5(GAA):c.2012T>G (p.Met671Arg)	GAA	Pathogenic	17	78086798	78086798	T	G	criteria provided, single submitter	ClinGen:CA220392
Duplication	NM_000152.5(GAA):c.2066_2070dup (p.Ala691fs)	GAA	Pathogenic	17	78087039	78087040	G	GCGAGC	criteria provided, multiple submitters, no conflicts	ClinGen:CA220395
single nucleotide variant	NM_000152.5(GAA):c.2105G>T (p.Arg702Leu)	GAA	Pathogenic/Likely pathogenic	17	78087081	78087081	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA220396,UniProtKB:P10253#VAR_068626
single nucleotide variant	NM_000152.5(GAA):c.2512C>T (p.Gln838Ter)	GAA	Pathogenic	17	78092022	78092022	C	T	reviewed by expert panel	ClinGen:CA220400
Deletion	NM_000152.5(GAA):c.2544del (p.Lys849fs)	GAA	Pathogenic	17	78092053	78092053	AC	A	reviewed by expert panel	ClinGen:CA220403
single nucleotide variant	NM_000152.5(GAA):c.307T>G (p.Cys103Gly)	GAA	Pathogenic	17	78078692	78078692	T	G	reviewed by expert panel	ClinGen:CA220404,UniProtKB:P10253#VAR_018078
single nucleotide variant	NM_000152.5(GAA):c.1841C>A (p.Thr614Lys)	GAA	Pathogenic	17	78086463	78086463	C	A	reviewed by expert panel	ClinGen:CA234050,UniProtKB:P10253#VAR_068619