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.2392T>C (p.Trp798Arg)	PYGM	Pathogenic/Likely pathogenic	11	64514268	64514268	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA222889,UniProtKB:P11217#VAR_014015,OMIM:608455.0015
single nucleotide variant	NM_005609.4(PYGM):c.1A>G (p.Met1Val)	PYGM	Pathogenic/Likely pathogenic	11	64527370	64527370	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA252209,OMIM:608455.0012
single nucleotide variant	NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter)	PYGM	Pathogenic/Likely pathogenic	11	64519438	64519438	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA252206,OMIM:608455.0009
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.1628A>C (p.Lys543Thr)	PYGM	Pathogenic/Likely pathogenic	11	64519536	64519536	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA339963,UniProtKB:P11217#VAR_003433,OMIM:608455.0003
single nucleotide variant	NM_005609.4(PYGM):c.1561A>T (p.Lys521Ter)	PYGM	Pathogenic	11	64519934	64519934	T	A	criteria provided, single submitter	-
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.1239+1G>A	PYGM	Pathogenic	11	64521350	64521350	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_005609.4(PYGM):c.1A>T (p.Met1Leu)	PYGM	Pathogenic	11	64527370	64527370	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_005609.4(PYGM):c.2392T>A (p.Trp798Arg)	PYGM	Pathogenic	11	64514268	64514268	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6079524