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
single nucleotide variant	NM_005609.4(PYGM):c.2083G>A (p.Gly695Arg)	PYGM	Pathogenic	11	64517942	64517942	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg)	PYGM	Pathogenic/Likely pathogenic	11	64517969	64517969	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA252204,UniProtKB:P11217#VAR_014011,OMIM:608455.0008
single nucleotide variant	NM_005609.4(PYGM):c.1970-1G>A	PYGM	Likely pathogenic	11	64518056	64518056	C	T	criteria provided, single submitter	ClinGen:CA16041496
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.1969+1G>T	PYGM	Likely pathogenic	11	64518796	64518796	C	A	criteria provided, single submitter	ClinGen:CA16041497
single nucleotide variant	NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys)	PYGM	Likely pathogenic	11	64518803	64518803	C	T	criteria provided, single submitter	ClinGen:CA252200,UniProtKB:P11217#VAR_003434,OMIM:608455.0005
single nucleotide variant	NM_005609.4(PYGM):c.1948C>T (p.Arg650Ter)	PYGM	Pathogenic	11	64518818	64518818	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6079669
single nucleotide variant	NM_005609.4(PYGM):c.1827+1G>C	PYGM	Likely pathogenic	11	64519068	64519068	C	G	criteria provided, single submitter	ClinGen:CA16041498
single nucleotide variant	NM_005609.4(PYGM):c.1827G>A (p.Lys609=)	PYGM	Pathogenic/Likely pathogenic	11	64519069	64519069	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA339964,OMIM:608455.0016
Deletion	NM_005609.4(PYGM):c.1797del (p.Phe599fs)	PYGM	Pathogenic/Likely pathogenic	11	64519099	64519099	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA273986