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.217C>T (p.Gln73Ter)	PYGM	Likely pathogenic	11	64527154	64527154	G	A	criteria provided, single submitter	ClinGen:CA16041506
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.252C>G (p.Tyr84Ter)	PYGM	Pathogenic/Likely pathogenic	11	64526168	64526168	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041505
Deletion	NM_005609.4(PYGM):c.253del (p.Tyr85fs)	PYGM	Likely pathogenic	11	64526167	64526167	TA	T	criteria provided, single submitter	ClinGen:CA16041504
single nucleotide variant	NM_005609.4(PYGM):c.255C>A (p.Tyr85Ter)	PYGM	Pathogenic/Likely pathogenic	11	64526165	64526165	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA345696
Deletion	NM_005609.4(PYGM):c.251_261del (p.Tyr84fs)	PYGM	Pathogenic/Likely pathogenic	11	64526159	64526169	AAGACAGGTAGT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041503
Deletion	NM_005609.4(PYGM):c.262_263del (p.Leu88fs)	PYGM	Likely pathogenic	11	64526157	64526158	TAA	T	criteria provided, single submitter	-
single nucleotide variant	NM_005609.4(PYGM):c.278G>T (p.Gly93Val)	PYGM	Likely pathogenic	11	64526142	64526142	C	A	criteria provided, single submitter	ClinGen:CA381111386
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.370G>T (p.Glu124Ter)	PYGM	Likely pathogenic	11	64525963	64525963	C	A	criteria provided, single submitter	-