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.1093-1G>T	PYGM	Likely pathogenic	11	64521498	64521498	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_005609.4(PYGM):c.660+1G>A	PYGM	Likely pathogenic	11	64525250	64525250	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_005609.4(PYGM):c.262_263del (p.Leu88fs)	PYGM	Likely pathogenic	11	64526157	64526158	TAA	T	criteria provided, single submitter	-
Deletion	NM_005609.4(PYGM):c.198del (p.Arg67fs)	PYGM	Likely pathogenic	11	64527173	64527173	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_005609.4(PYGM):c.370G>T (p.Glu124Ter)	PYGM	Likely pathogenic	11	64525963	64525963	C	A	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	-
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	-
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	-
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.2083G>A (p.Gly695Arg)	PYGM	Pathogenic	11	64517942	64517942	C	T	criteria provided, single submitter	-