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
Duplication	NM_005609.4(PYGM):c.501dup (p.Asn168Ter)	PYGM	Pathogenic	11	64525744	64525745	T	TA	criteria provided, single submitter	ClinGen:CA474959930
single nucleotide variant	NM_005609.4(PYGM):c.280C>T (p.Arg94Trp)	PYGM	Pathogenic	11	64526140	64526140	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6080314
single nucleotide variant	NM_005609.4(PYGM):c.1948C>T (p.Arg650Ter)	PYGM	Pathogenic	11	64518818	64518818	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6079669
Deletion	NM_005609.4(PYGM):c.13_14del (p.Leu5fs)	PYGM	Pathogenic	11	64527357	64527358	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA6080393
Duplication	NM_005609.4(PYGM):c.1466dup (p.Arg490fs)	PYGM	Pathogenic	11	64520596	64520597	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603264
single nucleotide variant	NM_005609.4(PYGM):c.1A>C (p.Met1Leu)	PYGM	Pathogenic	11	64527370	64527370	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA270754,OMIM:608455.0004
single nucleotide variant	NM_005609.4(PYGM):c.661-601G>A	PYGM	Pathogenic	11	64523631	64523631	C	T	criteria provided, single submitter	OMIM:608455.0018
single nucleotide variant	NM_005609.4(PYGM):c.613G>A (p.Gly205Ser)	PYGM	Pathogenic	11	64525298	64525298	C	T	criteria provided, multiple submitters, no conflicts	OMIM:608455.0002,ClinGen:CA339962,UniProtKB:P11217#VAR_003431
single nucleotide variant	NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)	PYGM	Pathogenic	11	64527223	64527223	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA222884,OMIM:608455.0001
single nucleotide variant	NM_005609.4(PYGM):c.1240-2A>G	PYGM	Likely pathogenic	11	64521156	64521156	T	C	criteria provided, single submitter	-