Related gene-specific medical variations for Gene (Select 192111) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3211634	NM_001170543.2(PGAM5):c.80C>G (p.Ala27Gly)	LOC130009268, PGAM5 (A27G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211633	NM_001170543.2(PGAM5):c.61G>A (p.Val21Met)	LOC130009268, PGAM5 (V21M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405138	NM_001170543.2(PGAM5):c.4G>T (p.Ala2Ser)	LOC130009268, PGAM5 (A2S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380612	NM_001170543.2(PGAM5):c.158C>T (p.Pro53Leu)	LOC130009268, PGAM5 (P53L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345596	NM_001170543.2(PGAM5):c.17C>T (p.Ala6Val)	LOC130009268, PGAM5 (A6V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242946	NM_001170543.2(PGAM5):c.94C>T (p.Arg32Cys)	LOC130009268, PGAM5 (R32C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204065	NM_001170543.2(PGAM5):c.61G>C (p.Val21Leu)	LOC130009268, PGAM5 (V21L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1285675	NM_001170543.2(PGAM5):c.-4C>T	LOC130009268, PGAM5	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1255053	NM_001170543.2(PGAM5):c.191+254C>T	LOC130009269, PGAM5	Single nucleotide variant (intron variant)	not provided	GBenign