"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 194748	NM_005609.4(PYGM):c.2009C>T (p.Ala670Val)	PYGM (A670V +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V +2 more	GBenign/Likely benign
Select item 95294	NM_005609.4(PYGM):c.1827+7A>G	PYGM	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 95293	NM_005609.4(PYGM):c.1569C>G (p.Leu523=)	PYGM	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 763308	NM_005609.4(PYGM):c.1353C>T (p.His451=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 193681	NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr)	PYGM (N413Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 193682	NM_005609.4(PYGM):c.1184C>T (p.Thr395Met)	PYGM (T395M +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V +2 more	GBenign
Select item 259829	NM_005609.4(PYGM):c.1092+6dup	PYGM	Duplication (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 95300	NM_005609.4(PYGM):c.661-5C>G	PYGM	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 259839	NM_005609.4(PYGM):c.612C>T (p.Tyr204=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V +2 more	GConflicting classifications of pathogenicity
Select item 580278	NM_005609.4(PYGM):c.160T>G (p.Phe54Val)	PYGM (F54V)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance