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.1963G>A (p.Glu655Lys)	PYGM	Likely pathogenic	11	64518803	64518803	C	T	criteria provided, single submitter	ClinGen:CA252200,UniProtKB:P11217#VAR_003434,OMIM:608455.0005
single nucleotide variant	NM_005609.4(PYGM):c.1722T>G (p.Tyr574Ter)	PYGM	Likely pathogenic	11	64519442	64519442	A	C	criteria provided, single submitter	OMIM:608455.0017,ClinGen:CA252213
single nucleotide variant	NM_005609.4(PYGM):c.152A>G (p.Asp51Gly)	PYGM	Likely pathogenic	11	64527219	64527219	T	C	criteria provided, single submitter	ClinGen:CA261238,OMIM:608455.0020
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
Deletion	NM_005609.4(PYGM):c.2231_2244del (p.Glu744fs)	PYGM	Likely pathogenic	11	64514764	64514777	CACTGCTCAGCTGCT	C	criteria provided, single submitter	ClinGen:CA16041494
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.1970-1G>A	PYGM	Likely pathogenic	11	64518056	64518056	C	T	criteria provided, single submitter	ClinGen:CA16041496
single nucleotide variant	NM_005609.4(PYGM):c.1969+1G>T	PYGM	Likely pathogenic	11	64518796	64518796	C	A	criteria provided, single submitter	ClinGen:CA16041497
single nucleotide variant	NM_005609.4(PYGM):c.1827+1G>C	PYGM	Likely pathogenic	11	64519068	64519068	C	G	criteria provided, single submitter	ClinGen:CA16041498
single nucleotide variant	NM_005609.4(PYGM):c.1717G>T (p.Glu573Ter)	PYGM	Likely pathogenic	11	64519447	64519447	C	A	criteria provided, single submitter	ClinGen:CA6079772