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.1136C>T (p.Thr379Met)	PYGM	Likely pathogenic	11	64521454	64521454	G	A	criteria provided, single submitter	ClinGen:CA381176728
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.397G>A (p.Gly133Ser)	PYGM	Likely pathogenic	11	64525936	64525936	C	T	criteria provided, single submitter	ClinGen:CA381109682
single nucleotide variant	NM_005609.4(PYGM):c.204G>A (p.Trp68Ter)	PYGM	Likely pathogenic	11	64527167	64527167	C	T	criteria provided, single submitter	ClinGen:CA16041507
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.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.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
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.1092+1G>A	PYGM	Likely pathogenic	11	64521724	64521724	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6080017