"Ambry Genetics"[submitter] AND "G3BP2"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2488260	NM_203505.3(G3BP2):c.1423G>A (p.Gly475Ser)	G3BP2 (G348S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466228	NM_203505.3(G3BP2):c.1416A>T (p.Gln472His)	G3BP2 (Q439H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478128	NM_203505.3(G3BP2):c.1181T>G (p.Ile394Ser)	G3BP2 (I300S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559078	NM_203505.3(G3BP2):c.838G>A (p.Ala280Thr)	G3BP2 (A186T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212640	NM_203505.3(G3BP2):c.796C>T (p.Pro266Ser)	G3BP2 (P172S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2462111	NM_203505.3(G3BP2):c.655G>C (p.Glu219Gln)	G3BP2 (E219Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097734	NM_203505.3(G3BP2):c.608A>G (p.Glu203Gly)	G3BP2 (E203G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384523	NM_203505.3(G3BP2):c.517A>T (p.Ser173Cys)	G3BP2 (S173C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance