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.1768+2T>G	PYGM	Pathogenic/Likely pathogenic	11	64519394	64519394	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA6079760
single nucleotide variant	NM_005609.4(PYGM):c.1768+1G>A	PYGM	Pathogenic/Likely pathogenic	11	64519395	64519395	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA275011,OMIM:608455.0007
single nucleotide variant	NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter)	PYGM	Pathogenic/Likely pathogenic	11	64519438	64519438	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA252206,OMIM:608455.0009
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.1717G>T (p.Glu573Ter)	PYGM	Likely pathogenic	11	64519447	64519447	C	A	criteria provided, single submitter	ClinGen:CA6079772
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.1628A>C (p.Lys543Thr)	PYGM	Pathogenic/Likely pathogenic	11	64519536	64519536	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA339963,UniProtKB:P11217#VAR_003433,OMIM:608455.0003
single nucleotide variant	NM_005609.4(PYGM):c.1561A>T (p.Lys521Ter)	PYGM	Pathogenic	11	64519934	64519934	T	A	criteria provided, single submitter	-
Indel	NM_005609.4(PYGM):c.1527_1530delinsTGA (p.Asp511fs)	PYGM	Likely pathogenic	11	64519965	64519968	CTCC	TCA	criteria provided, single submitter	ClinGen:CA16041500
Duplication	NM_005609.4(PYGM):c.1466dup (p.Arg490fs)	PYGM	Pathogenic	11	64520596	64520597	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603264