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
Indel	NM_005609.4(PYGM):c.1527_1530delinsTGA (p.Asp511fs)	PYGM	Likely pathogenic	11	64519965	64519968	CTCC	TCA	criteria provided, single submitter	ClinGen:CA16041500
Deletion	NM_005609.4(PYGM):c.1680del (p.Asn561fs)	PYGM	Likely pathogenic	11	64519484	64519484	TG	T	criteria provided, single submitter	ClinGen:CA16041499
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
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.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.1970-1G>A	PYGM	Likely pathogenic	11	64518056	64518056	C	T	criteria provided, single submitter	ClinGen:CA16041496
Duplication	NM_005609.4(PYGM):c.2136dup (p.Gly713fs)	PYGM	Likely pathogenic	11	64517888	64517889	C	CA	criteria provided, single submitter	ClinGen:CA16041495
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.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.152A>G (p.Asp51Gly)	PYGM	Likely pathogenic	11	64527219	64527219	T	C	criteria provided, single submitter	ClinGen:CA261238,OMIM:608455.0020