"Ambry Genetics"[submitter] AND "FREM2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2209069	NM_207361.6(FREM2):c.52A>G (p.Thr18Ala)	FREM2 (T18A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526658	NM_207361.6(FREM2):c.182C>A (p.Ala61Glu)	FREM2 (A61E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618901	NM_207361.6(FREM2):c.259G>A (p.Val87Ile)	FREM2 (V87I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280623	NM_207361.6(FREM2):c.265C>A (p.Leu89Met)	FREM2 (L89M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244211	NM_207361.6(FREM2):c.307G>T (p.Asp103Tyr)	FREM2 (D103Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229333	NM_207361.6(FREM2):c.320T>G (p.Val107Gly)	FREM2 (V107G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 311937	NM_207361.6(FREM2):c.335A>G (p.Asn112Ser)	FREM2 (N112S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2518402	NM_207361.6(FREM2):c.368G>A (p.Ser123Asn)	FREM2 (S123N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544724	NM_207361.6(FREM2):c.557T>G (p.Leu186Trp)	FREM2 (L186W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347611	NM_207361.6(FREM2):c.584G>A (p.Gly195Glu)	FREM2 (G195E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2280866	NM_207361.6(FREM2):c.655G>A (p.Gly219Ser)	FREM2 (G219S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1303990	NM_207361.6(FREM2):c.850G>C (p.Val284Leu)	FREM2 (V284L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1378103	NM_207361.6(FREM2):c.993C>G (p.Asp331Glu)	FREM2 (D331E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1431365	NM_207361.6(FREM2):c.1142C>G (p.Ser381Cys)	FREM2 (S381C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2293590	NM_207361.6(FREM2):c.1231G>A (p.Glu411Lys)	FREM2 (E411K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526657	NM_207361.6(FREM2):c.1252G>A (p.Glu418Lys)	FREM2 (E418K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 883327	NM_207361.6(FREM2):c.1345C>G (p.Leu449Val)	FREM2 (L449V)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +2 more	GUncertain significance
Select item 2595411	NM_207361.6(FREM2):c.1404G>T (p.Leu468Phe)	FREM2 (L468F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371352	NM_207361.6(FREM2):c.1438C>T (p.Arg480Trp)	FREM2 (R480W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325325	NM_207361.6(FREM2):c.1463G>T (p.Arg488Leu)	FREM2 (R488L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2066795	NM_207361.6(FREM2):c.1463G>A (p.Arg488Gln)	FREM2 (R488Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2218580	NM_207361.6(FREM2):c.1466A>G (p.His489Arg)	FREM2 (H489R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237870	NM_207361.6(FREM2):c.1549G>C (p.Val517Leu)	FREM2 (V517L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302593	NM_207361.6(FREM2):c.1631A>T (p.Gln544Leu)	FREM2 (Q544L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284467	NM_207361.6(FREM2):c.1633G>C (p.Val545Leu)	FREM2 (V545L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552087	NM_207361.6(FREM2):c.1664C>T (p.Pro555Leu)	FREM2 (P555L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 880963	NM_207361.6(FREM2):c.1837C>T (p.Arg613Cys)	FREM2 (R613C)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +2 more	GUncertain significance
Select item 2292440	NM_207361.6(FREM2):c.1880G>A (p.Gly627Asp)	FREM2 (G627D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264492	NM_207361.6(FREM2):c.1994C>T (p.Pro665Leu)	FREM2 (P665L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292650	NM_207361.6(FREM2):c.2049G>T (p.Gln683His)	FREM2 (Q683H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527284	NM_207361.6(FREM2):c.2113A>C (p.Ser705Arg)	FREM2 (S705R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356643	NM_207361.6(FREM2):c.2129G>A (p.Arg710His)	FREM2 (R710H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 882325	NM_207361.6(FREM2):c.2207G>A (p.Arg736Gln)	FREM2 (R736Q)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +2 more	GUncertain significance
Select item 2529137	NM_207361.6(FREM2):c.2318A>G (p.His773Arg)	FREM2 (H773R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325966	NM_207361.6(FREM2):c.2371C>G (p.Gln791Glu)	FREM2 (Q791E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601181	NM_207361.6(FREM2):c.2393G>A (p.Arg798Gln)	FREM2 (R798Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272729	NM_207361.6(FREM2):c.2540T>C (p.Leu847Pro)	FREM2 (L847P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557425	NM_207361.6(FREM2):c.2665C>T (p.Leu889Phe)	FREM2 (L889F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 311960	NM_207361.6(FREM2):c.2749G>A (p.Glu917Lys)	FREM2 (E917K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2508225	NM_207361.6(FREM2):c.2834A>G (p.His945Arg)	FREM2 (H945R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2172462	NM_207361.6(FREM2):c.2890A>G (p.Ile964Val)	FREM2 (I964V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1468169	NM_207361.6(FREM2):c.2987T>A (p.Val996Asp)	FREM2 (V996D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 2479353	NM_207361.6(FREM2):c.3004G>C (p.Glu1002Gln)	FREM2 (E1002Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307924	NM_207361.6(FREM2):c.3058A>G (p.Ser1020Gly)	FREM2 (S1020G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248362	NM_207361.6(FREM2):c.3061G>A (p.Gly1021Ser)	FREM2 (G1021S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243718	NM_207361.6(FREM2):c.3104G>A (p.Ser1035Asn)	FREM2 (S1035N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401051	NM_207361.6(FREM2):c.3109T>A (p.Ser1037Thr)	FREM2 (S1037T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215180	NM_207361.6(FREM2):c.3169G>T (p.Val1057Leu)	FREM2 (V1057L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593374	NM_207361.6(FREM2):c.3277G>A (p.Glu1093Lys)	FREM2 (E1093K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535539	NM_207361.6(FREM2):c.3399A>G (p.Ile1133Met)	FREM2 (I1133M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226442	NM_207361.6(FREM2):c.3607G>A (p.Gly1203Ser)	FREM2 (G1203S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292879	NM_207361.6(FREM2):c.3614G>A (p.Ser1205Asn)	FREM2 (S1205N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 311968	NM_207361.6(FREM2):c.3794A>G (p.Tyr1265Cys)	FREM2 (Y1265C)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +2 more	GUncertain significance
Select item 2202094	NM_207361.6(FREM2):c.3825C>G (p.Asp1275Glu)	FREM2 (D1275E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2298556	NM_207361.6(FREM2):c.4033T>C (p.Tyr1345His)	FREM2 (Y1345H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459407	NM_207361.6(FREM2):c.4034A>G (p.Tyr1345Cys)	FREM2 (Y1345C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2602713	NM_207361.6(FREM2):c.4118A>G (p.Asp1373Gly)	FREM2 (D1373G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547180	NM_207361.6(FREM2):c.4171C>T (p.Arg1391Trp)	FREM2 (R1391W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606934	NM_207361.6(FREM2):c.4199A>G (p.Asp1400Gly)	FREM2 (D1400G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318050	NM_207361.6(FREM2):c.4204A>G (p.Ile1402Val)	FREM2 (I1402V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476881	NM_207361.6(FREM2):c.4326C>G (p.Asp1442Glu)	FREM2 (D1442E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245796	NM_207361.6(FREM2):c.4412G>A (p.Cys1471Tyr)	FREM2 (C1471Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1982778	NM_207361.6(FREM2):c.4537G>A (p.Asp1513Asn)	FREM2 (D1513N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 881063	NM_207361.6(FREM2):c.4561A>C (p.Thr1521Pro)	FREM2 (T1521P)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +3 more	GUncertain significance
Select item 193526	NM_207361.6(FREM2):c.4567C>T (p.Arg1523Cys)	FREM2 (R1523C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2544750	NM_207361.6(FREM2):c.4615C>T (p.His1539Tyr)	FREM2 (H1539Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480330	NM_207361.6(FREM2):c.4617C>A (p.His1539Gln)	FREM2 (H1539Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264167	NM_207361.6(FREM2):c.4753A>G (p.Asn1585Asp)	FREM2 (N1585D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 881064	NM_207361.6(FREM2):c.4768A>C (p.Met1590Leu)	FREM2 (M1590L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 881065	NM_207361.6(FREM2):c.4823G>A (p.Gly1608Asp)	FREM2 (G1608D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2248456	NM_207361.6(FREM2):c.4849T>C (p.Ser1617Pro)	FREM2 (S1617P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1487832	NM_207361.6(FREM2):c.4886A>G (p.Tyr1629Cys)	FREM2 (Y1629C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 698110	NM_207361.6(FREM2):c.4960A>C (p.Ser1654Arg)	FREM2 (S1654R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2312672	NM_207361.6(FREM2):c.4966C>T (p.Pro1656Ser)	FREM2 (P1656S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236887	NM_207361.6(FREM2):c.5008C>G (p.Leu1670Val)	FREM2 (L1670V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275546	NM_207361.6(FREM2):c.5043C>A (p.Ser1681Arg)	FREM2 (S1681R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496324	NM_207361.6(FREM2):c.5059G>A (p.Glu1687Lys)	FREM2 (E1687K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222063	NM_207361.6(FREM2):c.5197T>C (p.Cys1733Arg)	FREM2 (C1733R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469938	NM_207361.6(FREM2):c.5230A>G (p.Ser1744Gly)	FREM2 (S1744G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319437	NM_207361.6(FREM2):c.5266G>A (p.Gly1756Arg)	FREM2 (G1756R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513458	NM_207361.6(FREM2):c.5342A>G (p.Asn1781Ser)	FREM2 (N1781S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599421	NM_207361.6(FREM2):c.5368G>A (p.Val1790Ile)	FREM2 (V1790I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2402305	NM_207361.6(FREM2):c.5377C>T (p.Arg1793Cys)	FREM2 (R1793C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2492231	NM_207361.6(FREM2):c.5429G>A (p.Arg1810Lys)	FREM2 (R1810K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 311992	NM_207361.6(FREM2):c.5434G>A (p.Ala1812Thr)	FREM2 (A1812T)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +2 more	GUncertain significance
Select item 2244759	NM_207361.6(FREM2):c.5540A>G (p.His1847Arg)	FREM2 (H1847R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 311999	NM_207361.6(FREM2):c.5789C>T (p.Pro1930Leu)	FREM2 (P1930L)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +1 more	GUncertain significance
Select item 2375598	NM_207361.6(FREM2):c.5879T>C (p.Leu1960Pro)	FREM2 (L1960P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1901857	NM_207361.6(FREM2):c.6088G>C (p.Val2030Leu)	FREM2 (V2030L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2495237	NM_207361.6(FREM2):c.6101G>A (p.Gly2034Asp)	FREM2 (G2034D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304959	NM_207361.6(FREM2):c.6108C>G (p.Asp2036Glu)	FREM2 (D2036E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1339125	NM_207361.6(FREM2):c.6109C>A (p.Leu2037Met)	FREM2 (L2037M)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +2 more	GUncertain significance
Select item 2408087	NM_207361.6(FREM2):c.6115A>G (p.Lys2039Glu)	FREM2 (K2039E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617901	NM_207361.6(FREM2):c.6125G>T (p.Ser2042Ile)	FREM2 (S2042I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221068	NM_207361.6(FREM2):c.6127G>A (p.Val2043Ile)	FREM2 (V2043I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510449	NM_207361.6(FREM2):c.6143G>A (p.Arg2048Gln)	FREM2 (R2048Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365058	NM_207361.6(FREM2):c.6148A>G (p.Thr2050Ala)	FREM2 (T2050A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 312005	NM_207361.6(FREM2):c.6307C>T (p.Arg2103Cys)	FREM2 (R2103C)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +1 more	GUncertain significance
Select item 2242670	NM_207361.6(FREM2):c.6386A>C (p.Lys2129Thr)	FREM2 (K2129T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2194496	NM_207361.6(FREM2):c.6387G>C (p.Lys2129Asn)	FREM2 (K2129N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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