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

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Search results

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3099606	NM_152657.4(GGN):c.1846A>G (p.Ser616Gly)	GGN (S616G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524215	NM_152657.4(GGN):c.1826G>A (p.Arg609His)	GGN (R609H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481565	NM_152657.4(GGN):c.1813C>T (p.Arg605Cys)	GGN (R605C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281309	NM_152657.4(GGN):c.1705G>T (p.Ala569Ser)	GGN (A569S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281310	NM_152657.4(GGN):c.1643C>T (p.Pro548Leu)	GGN (P548L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099605	NM_152657.4(GGN):c.1640G>A (p.Gly547Asp)	GGN (G547D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207044	NM_152657.4(GGN):c.1612A>G (p.Thr538Ala)	GGN (T538A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475030	NM_152657.4(GGN):c.1570C>A (p.Arg524Ser)	GGN (R524S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592646	NM_152657.4(GGN):c.1522T>C (p.Ser508Pro)	GGN (S508P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395029	NM_152657.4(GGN):c.1442C>A (p.Ala481Asp)	GGN (A481D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241819	NM_152657.4(GGN):c.1415A>G (p.Lys472Arg)	GGN (K472R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099603	NM_152657.4(GGN):c.1399C>G (p.Pro467Ala)	GGN (P467A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545037	NM_152657.4(GGN):c.1352C>T (p.Pro451Leu)	GGN (P451L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099602	NM_152657.4(GGN):c.1287G>A (p.Pro429=)	GGN	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2510303	NM_152657.4(GGN):c.1133G>A (p.Arg378Gln)	GGN (R378Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455049	NM_152657.4(GGN):c.1130G>A (p.Arg377Gln)	GGN (R377Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270518	NM_152657.4(GGN):c.1114G>A (p.Gly372Ser)	GGN (G372S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392765	NM_152657.4(GGN):c.1085G>A (p.Arg362His)	GGN (R362H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510894	NM_152657.4(GGN):c.1069C>A (p.Pro357Thr)	GGN (P357T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281308	NM_152657.4(GGN):c.1030T>C (p.Phe344Leu)	GGN (F344L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223964	NM_152657.4(GGN):c.976C>A (p.Pro326Thr)	GGN (P326T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347949	NM_152657.4(GGN):c.932A>G (p.Glu311Gly)	GGN (E311G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349258	NM_152657.4(GGN):c.848T>A (p.Ile283Asn)	GGN (I283N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3099610	NM_152657.4(GGN):c.829T>C (p.Phe277Leu)	GGN (F277L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313545	NM_152657.4(GGN):c.815G>A (p.Gly272Glu)	GGN (G272E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306327	NM_152657.4(GGN):c.662C>T (p.Pro221Leu)	GGN (P221L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597330	NM_152657.4(GGN):c.590C>T (p.Ser197Leu)	GGN (S197L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593846	NM_152657.4(GGN):c.561A>C (p.Arg187Ser)	GGN (R187S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524368	NM_152657.4(GGN):c.535T>C (p.Ser179Pro)	GGN (S179P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2381320	NM_152657.4(GGN):c.514A>G (p.Lys172Glu)	GGN (K172E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352866	NM_152657.4(GGN):c.488A>C (p.Gln163Pro)	GGN (Q163P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3099609	NM_152657.4(GGN):c.440C>T (p.Pro147Leu)	GGN (P147L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369882	NM_152657.4(GGN):c.418C>T (p.Arg140Cys)	GGN (R140C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485925	NM_152657.4(GGN):c.379G>C (p.Glu127Gln)	GGN (E127Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485637	NM_152657.4(GGN):c.326C>T (p.Ser109Phe)	GGN (S109F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281305	NM_152657.4(GGN):c.254C>T (p.Pro85Leu)	GGN (P85L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281307	NM_152657.4(GGN):c.253C>A (p.Pro85Thr)	GGN (P85T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281306	NM_152657.4(GGN):c.252G>A (p.Met84Ile)	GGN (M84I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099607	NM_152657.4(GGN):c.212C>T (p.Ser71Leu)	GGN (S71L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289313	NM_152657.4(GGN):c.188C>T (p.Pro63Leu)	GGN (P63L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252743	NM_152657.4(GGN):c.140T>G (p.Leu47Arg)	GGN (L47R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407196	NM_152657.4(GGN):c.67G>A (p.Ala23Thr)	GGN (A23T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524308	NM_152657.4(GGN):c.64C>G (p.Arg22Gly)	GGN (R22G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 43