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.808C>T (p.Arg270Ter)	PYGM	Pathogenic/Likely pathogenic	11	64522792	64522792	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274003
Deletion	NM_005609.4(PYGM):c.1044del (p.Glu349fs)	PYGM	Likely pathogenic	11	64521773	64521773	CG	C	criteria provided, single submitter	-
single nucleotide variant	NM_005609.4(PYGM):c.1092+1G>A	PYGM	Likely pathogenic	11	64521724	64521724	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6080017
single nucleotide variant	NM_005609.4(PYGM):c.1093-1G>T	PYGM	Likely pathogenic	11	64521498	64521498	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_005609.4(PYGM):c.1136C>T (p.Thr379Met)	PYGM	Likely pathogenic	11	64521454	64521454	G	A	criteria provided, single submitter	ClinGen:CA381176728
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.1239+1G>A	PYGM	Pathogenic	11	64521350	64521350	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_005609.4(PYGM):c.1240-2A>G	PYGM	Likely pathogenic	11	64521156	64521156	T	C	criteria provided, single submitter	-
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.1366G>A (p.Val456Met)	PYGM	Pathogenic/Likely pathogenic	11	64521028	64521028	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA222880