"Ambry Genetics"[submitter] AND "LOC126860395"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2340931	NM_002655.3(PLAG1):c.1061G>A (p.Gly354Glu)	LOC126860395, PLAG1 (G272E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213219	NM_002655.3(PLAG1):c.902C>T (p.Ser301Leu)	LOC126860395, PLAG1 (S301L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214280	NM_002655.3(PLAG1):c.894G>T (p.Met298Ile)	LOC126860395, PLAG1 (M298I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307254	NM_002655.3(PLAG1):c.750C>G (p.Phe250Leu)	LOC126860395, PLAG1 (F168L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307257	NM_002655.3(PLAG1):c.612G>A (p.Met204Ile)	LOC126860395, PLAG1 (M204I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214279	NM_002655.3(PLAG1):c.602G>A (p.Arg201Gln)	LOC126860395, PLAG1 (R201Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307262	NM_002655.3(PLAG1):c.493C>T (p.Leu165Phe)	LOC126860395, PLAG1 (L165F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300838	NM_002655.3(PLAG1):c.469C>A (p.Gln157Lys)	LOC126860395, PLAG1 (Q157K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307258	NM_002655.3(PLAG1):c.412C>T (p.Arg138Cys)	LOC126860395, PLAG1 (R138C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590086	NM_002655.3(PLAG1):c.370G>A (p.Glu124Lys)	LOC126860395, PLAG1 (E124K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366248	NM_002655.3(PLAG1):c.359C>T (p.Thr120Met)	LOC126860395, PLAG1 (T120M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236750	NM_002655.3(PLAG1):c.343G>A (p.Asp115Asn)	LOC126860395, PLAG1 (D115N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307256	NM_002655.3(PLAG1):c.304C>T (p.His102Tyr)	LOC126860395, PLAG1 (H20Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307261	NM_002655.3(PLAG1):c.244C>T (p.His82Tyr)	LOC126860395, PLAG1 (H82Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance