"Ambry Genetics"[submitter] AND "GSG1"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2618903	NM_001080555.4(GSG1):c.1016A>G (p.Lys339Arg)	GSG1, LOC126861459 (K275R +8 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3102898	NM_001080555.4(GSG1):c.1002C>T (p.Ser334=)	GSG1, LOC126861459	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2316153	NM_001080555.4(GSG1):c.946C>T (p.His316Tyr)	GSG1, LOC126861459 (H303Y +8 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3102906	NM_001080555.4(GSG1):c.902G>A (p.Arg301Gln)	GSG1, LOC126861459 (R237Q +9 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2387767	NM_001080555.4(GSG1):c.901C>T (p.Arg301Trp)	GSG1, LOC126861459 (R265W +8 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2227840	NM_001080555.4(GSG1):c.899G>A (p.Arg300Gln)	GSG1, LOC126861459 (G343S +9 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2282365	NM_001080555.4(GSG1):c.860A>G (p.Asn287Ser)	GSG1, LOC126861459 (N264S +9 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2211395	NM_001080555.4(GSG1):c.803C>T (p.Thr268Met)	GSG1, LOC126861459 (T232M +9 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2511321	NM_001080555.4(GSG1):c.782C>T (p.Ser261Leu)	GSG1, LOC126861459 (R304W +9 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3102905	NM_001080555.4(GSG1):c.689T>C (p.Val230Ala)	GSG1 (V143A +8 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3102904	NM_001080555.4(GSG1):c.688G>A (p.Val230Ile)	GSG1 (C220Y +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282979	NM_001080555.4(GSG1):c.586T>C (p.Cys196Arg)	GSG1 (L201P +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235585	NM_001080555.4(GSG1):c.583G>A (p.Ala195Thr)	GSG1 (A159T +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282983	NM_001080555.4(GSG1):c.518A>G (p.Tyr173Cys)	GSG1 (Y150C +5 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3102903	NM_001080555.4(GSG1):c.507G>A (p.Thr169=)	GSG1 (A175T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2590684	NM_001080555.4(GSG1):c.506C>T (p.Thr169Met)	GSG1 (T193M +5 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2554437	NM_001080555.4(GSG1):c.488T>C (p.Leu163Pro)	GSG1 (L140P +5 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2513625	NM_001080555.4(GSG1):c.464C>T (p.Thr155Ile)	GSG1 (T155I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455513	NM_001080555.4(GSG1):c.425C>T (p.Ala142Val)	GSG1 (A129V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102902	NM_001080555.4(GSG1):c.407G>A (p.Arg136Gln)	GSG1 (R136Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2323617	NM_001080555.4(GSG1):c.406C>T (p.Arg136Trp)	GSG1 (R123W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461839	NM_001080555.4(GSG1):c.388A>G (p.Lys130Glu)	GSG1 (K117E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102901	NM_001080555.4(GSG1):c.385T>G (p.Trp129Gly)	GSG1 (W116G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374012	NM_001080555.4(GSG1):c.361C>A (p.Pro121Thr)	GSG1 (P121T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391118	NM_001080555.4(GSG1):c.310C>T (p.Arg104Trp)	GSG1 (R91W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282982	NM_001080555.4(GSG1):c.283G>A (p.Glu95Lys)	GSG1 (E82K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205850	NM_001080555.4(GSG1):c.221T>G (p.Met74Arg)	GSG1 (M74R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102899	NM_001080555.4(GSG1):c.185T>C (p.Leu62Pro)	GSG1 (L62P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300387	NM_001080555.4(GSG1):c.148T>A (p.Tyr50Asn)	GSG1 (Y37N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282980	NM_001080555.4(GSG1):c.107T>C (p.Met36Thr)	GSG1 (M36T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 30