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.2178-1G>A	PYGM	Pathogenic/Likely pathogenic	11	64514831	64514831	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6079609
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
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.2392T>A (p.Trp798Arg)	PYGM	Pathogenic	11	64514268	64514268	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6079524
Duplication	NM_005609.4(PYGM):c.1403+2dup	PYGM	Likely pathogenic	11	64520988	64520989	C	CA	criteria provided, single submitter	-
single nucleotide variant	NM_005609.4(PYGM):c.1345G>A (p.Gly449Arg)	PYGM	Pathogenic/Likely pathogenic	11	64521049	64521049	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_005609.4(PYGM):c.2380-1G>A	PYGM	Pathogenic/Likely pathogenic	11	64514281	64514281	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_005609.4(PYGM):c.2319del (p.Val774fs)	PYGM	Likely pathogenic	11	64514453	64514453	CT	C	criteria provided, single submitter	-
Deletion	NM_005609.4(PYGM):c.219_220del (p.His74fs)	PYGM	Likely pathogenic	11	64527151	64527152	TGC	T	criteria provided, single submitter	-
single nucleotide variant	NM_005609.4(PYGM):c.1A>T (p.Met1Leu)	PYGM	Pathogenic	11	64527370	64527370	T	A	criteria provided, multiple submitters, no conflicts	-