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.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.2083G>A (p.Gly695Arg)	PYGM	Pathogenic	11	64517942	64517942	C	T	criteria provided, single submitter	-
Duplication	NM_005609.4(PYGM):c.2136dup (p.Gly713fs)	PYGM	Likely pathogenic	11	64517888	64517889	C	CA	criteria provided, single submitter	ClinGen:CA16041495
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
Deletion	NM_005609.4(PYGM):c.2231_2244del (p.Glu744fs)	PYGM	Likely pathogenic	11	64514764	64514777	CACTGCTCAGCTGCT	C	criteria provided, single submitter	ClinGen:CA16041494
Deletion	NM_005609.4(PYGM):c.2262del (p.Lys754fs)	PYGM	Pathogenic/Likely pathogenic	11	64514746	64514746	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA222888
Deletion	NM_005609.4(PYGM):c.2319del (p.Val774fs)	PYGM	Likely pathogenic	11	64514453	64514453	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter)	PYGM	Pathogenic/Likely pathogenic	11	64514420	64514420	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041493
single nucleotide variant	NM_005609.4(PYGM):c.2380-1G>A	PYGM	Pathogenic/Likely pathogenic	11	64514281	64514281	C	T	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