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.280C>T (p.Arg94Trp)	PYGM	Pathogenic	11	64526140	64526140	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6080314
single nucleotide variant	NM_005609.4(PYGM):c.2178-1G>A	PYGM	Pathogenic/Likely pathogenic	11	64514831	64514831	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6079609
single nucleotide variant	NM_005609.4(PYGM):c.1456G>A (p.Gly486Ser)	PYGM	Likely pathogenic	11	64520607	64520607	C	T	criteria provided, single submitter	ClinGen:CA223899899
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.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.278G>T (p.Gly93Val)	PYGM	Likely pathogenic	11	64526142	64526142	C	A	criteria provided, single submitter	ClinGen:CA381111386
single nucleotide variant	NM_005609.4(PYGM):c.397G>A (p.Gly133Ser)	PYGM	Likely pathogenic	11	64525936	64525936	C	T	criteria provided, single submitter	ClinGen:CA381109682
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
Deletion	NM_005609.4(PYGM):c.13_14del (p.Leu5fs)	PYGM	Pathogenic	11	64527357	64527358	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA6080393