マッカードル病

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
Deletion	NM_005609.4(PYGM):c.395_408del (p.Leu132fs)	PYGM	Pathogenic/Likely pathogenic	11	64525925	64525938	GGCCCCCGTTGCCCA	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_005609.4(PYGM):c.21_28dup (p.Lys10fs)	PYGM	Pathogenic/Likely pathogenic	11	64527342	64527343	T	TTCTCTTGG	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_005609.4(PYGM):c.2380-1G>A	PYGM	Pathogenic/Likely pathogenic	11	64514281	64514281	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_005609.4(PYGM):c.1345G>A (p.Gly449Arg)	PYGM	Pathogenic/Likely pathogenic	11	64521049	64521049	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_005609.4(PYGM):c.2178-1G>A	PYGM	Pathogenic/Likely pathogenic	11	64514831	64514831	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6079609
single nucleotide variant	NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys)	PYGM	Pathogenic/Likely pathogenic	11	64521443	64521443	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6079985
single nucleotide variant	NM_005609.4(PYGM):c.1970-2A>T	PYGM	Pathogenic/Likely pathogenic	11	64518057	64518057	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621622
single nucleotide variant	NM_005609.4(PYGM):c.252C>G (p.Tyr84Ter)	PYGM	Pathogenic/Likely pathogenic	11	64526168	64526168	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041505
Deletion	NM_005609.4(PYGM):c.251_261del (p.Tyr84fs)	PYGM	Pathogenic/Likely pathogenic	11	64526159	64526169	AAGACAGGTAGT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041503
single nucleotide variant	NM_005609.4(PYGM):c.1768+2T>G	PYGM	Pathogenic/Likely pathogenic	11	64519394	64519394	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA6079760