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.1717G>T (p.Glu573Ter)	PYGM	Likely pathogenic	11	64519447	64519447	C	A	criteria provided, single submitter	ClinGen:CA6079772
Deletion	NM_005609.4(PYGM):c.1680del (p.Asn561fs)	PYGM	Likely pathogenic	11	64519484	64519484	TG	T	criteria provided, single submitter	ClinGen:CA16041499
Indel	NM_005609.4(PYGM):c.1527_1530delinsTGA (p.Asp511fs)	PYGM	Likely pathogenic	11	64519965	64519968	CTCC	TCA	criteria provided, single submitter	ClinGen:CA16041500
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
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
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.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.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.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.252C>G (p.Tyr84Ter)	PYGM	Pathogenic/Likely pathogenic	11	64526168	64526168	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041505