"Ambry Genetics"[submitter] AND "FREM3"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2310090	NM_001168235.2(FREM3):c.6258C>G (p.Ile2086Met)	FREM3 (I2086M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519045	NM_001168235.2(FREM3):c.6239A>G (p.Gln2080Arg)	FREM3 (Q2080R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2564113	NM_001168235.2(FREM3):c.6233G>A (p.Arg2078His)	FREM3 (R2078H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2376316	NM_001168235.2(FREM3):c.6157T>G (p.Ser2053Ala)	FREM3 (S2053A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593546	NM_001168235.2(FREM3):c.6146G>A (p.Arg2049His)	FREM3 (R2049H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2570297	NM_001168235.2(FREM3):c.6139G>A (p.Ala2047Thr)	FREM3 (A2047T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2509538	NM_001168235.2(FREM3):c.5987T>A (p.Phe1996Tyr)	FREM3 (F1996Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568400	NM_001168235.2(FREM3):c.5800T>G (p.Ser1934Ala)	FREM3 (S1934A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548771	NM_001168235.2(FREM3):c.5773C>T (p.Arg1925Cys)	FREM3 (R1925C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358853	NM_001168235.2(FREM3):c.5492A>G (p.Gln1831Arg)	FREM3 (Q1831R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614721	NM_001168235.2(FREM3):c.5401C>T (p.Leu1801Phe)	FREM3 (L1801F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462813	NM_001168235.2(FREM3):c.5242A>G (p.Lys1748Glu)	FREM3 (K1748E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378830	NM_001168235.2(FREM3):c.5171G>A (p.Arg1724Gln)	FREM3 (R1724Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539044	NM_001168235.2(FREM3):c.5125G>C (p.Glu1709Gln)	FREM3 (E1709Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472322	NM_001168235.2(FREM3):c.5080G>C (p.Asp1694His)	FREM3 (D1694H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391106	NM_001168235.2(FREM3):c.5074G>C (p.Asp1692His)	FREM3 (D1692H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614608	NM_001168235.2(FREM3):c.4964T>C (p.Leu1655Ser)	FREM3 (L1655S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299413	NM_001168235.2(FREM3):c.4837A>T (p.Ser1613Cys)	FREM3 (S1613C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487602	NM_001168235.2(FREM3):c.4834G>A (p.Gly1612Ser)	FREM3 (G1612S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377457	NM_001168235.2(FREM3):c.4801C>G (p.Leu1601Val)	FREM3 (L1601V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389045	NM_001168235.2(FREM3):c.4618T>A (p.Leu1540Met)	FREM3 (L1540M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619874	NM_001168235.2(FREM3):c.4582A>T (p.Ile1528Phe)	FREM3 (I1528F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348214	NM_001168235.2(FREM3):c.4552G>A (p.Glu1518Lys)	FREM3 (E1518K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231989	NM_001168235.2(FREM3):c.4549G>A (p.Gly1517Ser)	FREM3 (G1517S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2512031	NM_001168235.2(FREM3):c.4510G>A (p.Asp1504Asn)	FREM3 (D1504N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210032	NM_001168235.2(FREM3):c.4416C>G (p.His1472Gln)	FREM3 (H1472Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616998	NM_001168235.2(FREM3):c.4414C>T (p.His1472Tyr)	FREM3 (H1472Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300897	NM_001168235.2(FREM3):c.4406G>A (p.Ser1469Asn)	FREM3 (S1469N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221399	NM_001168235.2(FREM3):c.4399G>A (p.Ala1467Thr)	FREM3 (A1467T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247914	NM_001168235.2(FREM3):c.4298G>T (p.Arg1433Met)	FREM3 (R1433M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290551	NM_001168235.2(FREM3):c.4258G>A (p.Gly1420Ser)	FREM3 (G1420S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369857	NM_001168235.2(FREM3):c.4256T>C (p.Ile1419Thr)	FREM3 (I1419T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321220	NM_001168235.2(FREM3):c.4180G>A (p.Gly1394Arg)	FREM3 (G1394R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594734	NM_001168235.2(FREM3):c.3946A>C (p.Lys1316Gln)	FREM3 (K1316Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360652	NM_001168235.2(FREM3):c.3920C>T (p.Pro1307Leu)	FREM3 (P1307L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347657	NM_001168235.2(FREM3):c.3814G>T (p.Asp1272Tyr)	FREM3 (D1272Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461740	NM_001168235.2(FREM3):c.3805G>A (p.Glu1269Lys)	FREM3 (E1269K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374743	NM_001168235.2(FREM3):c.3785A>G (p.Glu1262Gly)	FREM3 (E1262G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366789	NM_001168235.2(FREM3):c.3761G>C (p.Ser1254Thr)	FREM3 (S1254T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258463	NM_001168235.2(FREM3):c.3759C>A (p.His1253Gln)	FREM3 (H1253Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594733	NM_001168235.2(FREM3):c.3757C>G (p.His1253Asp)	FREM3 (H1253D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340485	NM_001168235.2(FREM3):c.3632T>C (p.Ile1211Thr)	FREM3 (I1211T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379973	NM_001168235.2(FREM3):c.3621G>A (p.Met1207Ile)	FREM3 (M1207I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210367	NM_001168235.2(FREM3):c.3607G>T (p.Val1203Leu)	FREM3 (V1203L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2564037	NM_001168235.2(FREM3):c.3605A>G (p.Lys1202Arg)	FREM3 (K1202R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554603	NM_001168235.2(FREM3):c.3589T>G (p.Phe1197Val)	FREM3 (F1197V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489319	NM_001168235.2(FREM3):c.3457C>G (p.Gln1153Glu)	FREM3 (Q1153E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538390	NM_001168235.2(FREM3):c.3221T>C (p.Val1074Ala)	FREM3 (V1074A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592520	NM_001168235.2(FREM3):c.3107G>T (p.Ser1036Ile)	FREM3 (S1036I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293119	NM_001168235.2(FREM3):c.3099T>A (p.Asp1033Glu)	FREM3 (D1033E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370072	NM_001168235.2(FREM3):c.3097G>A (p.Asp1033Asn)	FREM3 (D1033N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343029	NM_001168235.2(FREM3):c.3047G>T (p.Arg1016Ile)	FREM3 (R1016I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318051	NM_001168235.2(FREM3):c.2912T>C (p.Val971Ala)	FREM3 (V971A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557627	NM_001168235.2(FREM3):c.2875G>A (p.Val959Ile)	FREM3 (V959I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205428	NM_001168235.2(FREM3):c.2870T>C (p.Ile957Thr)	FREM3 (I957T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527840	NM_001168235.2(FREM3):c.2824A>T (p.Ser942Cys)	FREM3 (S942C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267723	NM_001168235.2(FREM3):c.2771A>G (p.His924Arg)	FREM3 (H924R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512882	NM_001168235.2(FREM3):c.2692G>A (p.Gly898Arg)	FREM3 (G898R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521280	NM_001168235.2(FREM3):c.2676A>T (p.Gln892His)	FREM3 (Q892H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281030	NM_001168235.2(FREM3):c.2489C>T (p.Pro830Leu)	FREM3 (P830L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551636	NM_001168235.2(FREM3):c.2440G>A (p.Val814Met)	FREM3 (V814M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264054	NM_001168235.2(FREM3):c.2352A>C (p.Lys784Asn)	FREM3 (K784N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536287	NM_001168235.2(FREM3):c.2287G>A (p.Val763Met)	FREM3 (V763M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527015	NM_001168235.2(FREM3):c.2287G>C (p.Val763Leu)	FREM3 (V763L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238264	NM_001168235.2(FREM3):c.2243C>T (p.Pro748Leu)	FREM3 (P748L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275424	NM_001168235.2(FREM3):c.2107C>T (p.Pro703Ser)	FREM3 (P703S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544467	NM_001168235.2(FREM3):c.1993C>A (p.Pro665Thr)	FREM3 (P665T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569949	NM_001168235.2(FREM3):c.1835A>C (p.Asp612Ala)	FREM3 (D612A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277854	NM_001168235.2(FREM3):c.1759C>A (p.Pro587Thr)	FREM3 (P587T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272730	NM_001168235.2(FREM3):c.1627C>G (p.Pro543Ala)	FREM3 (P543A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547023	NM_001168235.2(FREM3):c.1540A>G (p.Ser514Gly)	FREM3 (S514G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538763	NM_001168235.2(FREM3):c.1475A>G (p.Tyr492Cys)	FREM3 (Y492C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536956	NM_001168235.2(FREM3):c.1421G>A (p.Arg474Lys)	FREM3 (R474K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280923	NM_001168235.2(FREM3):c.1310A>G (p.His437Arg)	FREM3 (H437R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305169	NM_001168235.2(FREM3):c.1252C>T (p.Pro418Ser)	FREM3 (P418S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239526	NM_001168235.2(FREM3):c.1235A>G (p.Asp412Gly)	FREM3 (D412G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2561660	NM_001168235.2(FREM3):c.1161T>G (p.Ile387Met)	FREM3 (I387M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237804	NM_001168235.2(FREM3):c.1003G>A (p.Val335Ile)	FREM3 (V335I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594735	NM_001168235.2(FREM3):c.970G>T (p.Ala324Ser)	FREM3 (A324S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461498	NM_001168235.2(FREM3):c.911C>T (p.Pro304Leu)	FREM3 (P304L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511979	NM_001168235.2(FREM3):c.896G>C (p.Gly299Ala)	FREM3 (G299A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590696	NM_001168235.2(FREM3):c.893G>A (p.Gly298Asp)	FREM3 (G298D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276579	NM_001168235.2(FREM3):c.880G>C (p.Val294Leu)	FREM3 (V294L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348505	NM_001168235.2(FREM3):c.803T>C (p.Met268Thr)	FREM3 (M268T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253299	NM_001168235.2(FREM3):c.695C>A (p.Ala232Asp)	FREM3 (A232D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568589	NM_001168235.2(FREM3):c.692G>A (p.Gly231Glu)	FREM3 (G231E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595758	NM_001168235.2(FREM3):c.631A>G (p.Thr211Ala)	FREM3 (T211A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476461	NM_001168235.2(FREM3):c.586G>C (p.Ala196Pro)	FREM3 (A196P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379552	NM_001168235.2(FREM3):c.535G>A (p.Glu179Lys)	FREM3 (E179K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383529	NM_001168235.2(FREM3):c.533T>C (p.Val178Ala)	FREM3 (V178A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303768	NM_001168235.2(FREM3):c.515G>A (p.Arg172His)	FREM3 (R172H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325160	NM_001168235.2(FREM3):c.440C>A (p.Ala147Asp)	FREM3 (A147D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240433	NM_001168235.2(FREM3):c.401C>T (p.Pro134Leu)	FREM3 (P134L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327443	NM_001168235.2(FREM3):c.400C>A (p.Pro134Thr)	FREM3 (P134T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403034	NM_001168235.2(FREM3):c.341G>A (p.Arg114His)	FREM3 (R114H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515564	NM_001168235.2(FREM3):c.328C>T (p.Leu110Phe)	FREM3 (L110F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243855	NM_001168235.2(FREM3):c.316C>A (p.Leu106Ile)	FREM3 (L106I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381185	NM_001168235.2(FREM3):c.303C>A (p.Asp101Glu)	FREM3 (D101E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207830	NM_001168235.2(FREM3):c.260T>C (p.Ile87Thr)	FREM3 (I87T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346970	NM_001168235.2(FREM3):c.250G>A (p.Asp84Asn)	FREM3 (D84N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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