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.148C>T (p.Arg50Ter)	PYGM	Pathogenic	11	64527223	64527223	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA222884,OMIM:608455.0001
single nucleotide variant	NM_005609.4(PYGM):c.613G>A (p.Gly205Ser)	PYGM	Pathogenic	11	64525298	64525298	C	T	criteria provided, multiple submitters, no conflicts	OMIM:608455.0002,ClinGen:CA339962,UniProtKB:P11217#VAR_003431
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.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.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.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.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.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.1827G>A (p.Lys609=)	PYGM	Pathogenic/Likely pathogenic	11	64519069	64519069	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA339964,OMIM:608455.0016
single nucleotide variant	NM_005609.4(PYGM):c.1722T>G (p.Tyr574Ter)	PYGM	Likely pathogenic	11	64519442	64519442	A	C	criteria provided, single submitter	OMIM:608455.0017,ClinGen:CA252213