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.2528G>T (p.Ter843Leu)	PYGM	Likely pathogenic	11	64514132	64514132	C	A	criteria provided, single submitter	ClinGen:CA16041492
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.2392T>A (p.Trp798Arg)	PYGM	Pathogenic	11	64514268	64514268	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6079524
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.2352C>A (p.Cys784Ter)	PYGM	Pathogenic/Likely pathogenic	11	64514420	64514420	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041493
Deletion	NM_005609.4(PYGM):c.2319del (p.Val774fs)	PYGM	Likely pathogenic	11	64514453	64514453	CT	C	criteria provided, single submitter	-
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.2231_2244del (p.Glu744fs)	PYGM	Likely pathogenic	11	64514764	64514777	CACTGCTCAGCTGCT	C	criteria provided, single submitter	ClinGen:CA16041494
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
Duplication	NM_005609.4(PYGM):c.2136dup (p.Gly713fs)	PYGM	Likely pathogenic	11	64517888	64517889	C	CA	criteria provided, single submitter	ClinGen:CA16041495