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.397G>A (p.Gly133Ser)	PYGM	Likely pathogenic	11	64525936	64525936	C	T	criteria provided, single submitter	ClinGen:CA381109682
Deletion	NM_005609.4(PYGM):c.407del (p.Gly136fs)	PYGM	Pathogenic/Likely pathogenic	11	64525926	64525926	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA274407
Deletion	NM_005609.4(PYGM):c.395_408del (p.Leu132fs)	PYGM	Pathogenic/Likely pathogenic	11	64525925	64525938	GGCCCCCGTTGCCCA	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_005609.4(PYGM):c.425-2A>G	PYGM	Likely pathogenic	11	64525823	64525823	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA6080246
Deletion	NM_005609.4(PYGM):c.445_448del (p.Ala149fs)	PYGM	Likely pathogenic	11	64525798	64525801	GTTGC	G	criteria provided, single submitter	ClinGen:CA16041502
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.528+2T>G	PYGM	Likely pathogenic	11	64525716	64525716	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041501
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.660+1G>A	PYGM	Likely pathogenic	11	64525250	64525250	C	T	criteria provided, multiple submitters, no conflicts	-
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