"Ambry Genetics"[submitter] AND "F5"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 224

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1754743	NM_000130.5(F5):c.6662G>A (p.Cys2221Tyr)	F5 (C2221Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 293572	NM_000130.5(F5):c.6589A>G (p.Ile2197Val)	F5 (I2197V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 1754327	NM_000130.5(F5):c.6586A>G (p.Ile2196Val)	F5 (I2196V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1754169	NM_000130.5(F5):c.6555A>C (p.Lys2185Asn)	F5 (K2185N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598192	NM_000130.5(F5):c.6536A>C (p.Glu2179Ala)	F5 (E2179A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2884220	NM_000130.5(F5):c.6516C>T (p.Ser2172=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency +1 more	GLikely benign
Select item 3276985	NM_000130.5(F5):c.6494A>T (p.Lys2165Ile)	F5 (K2165I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1753799	NM_000130.5(F5):c.6489A>G (p.Glu2163=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency +1 more	GLikely benign
Select item 2567184	NM_000130.5(F5):c.6451A>G (p.Lys2151Glu)	F5 (K2151E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276991	NM_000130.5(F5):c.6407T>C (p.Ile2136Thr)	F5 (I2136T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 712893	NM_000130.5(F5):c.6402G>A (p.Thr2134=)	F5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3276978	NM_000130.5(F5):c.6322C>A (p.Arg2108Ser)	F5 (R2108S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 293575	NM_000130.5(F5):c.6309G>A (p.Leu2103=)	F5	Single nucleotide variant (synonymous variant)	Budd-Chiari syndrome +6 more	GConflicting classifications of pathogenicity
Select item 2308889	NM_000130.5(F5):c.6299G>A (p.Arg2100His)	F5 (R2100H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2567183	NM_000130.5(F5):c.6233A>C (p.Glu2078Ala)	F5 (E2078A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326964	NM_000130.5(F5):c.6205C>T (p.Pro2069Ser)	F5 (P2069S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091477	NM_000130.5(F5):c.6140G>A (p.Arg2047Gln)	F5 (R2047Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276986	NM_000130.5(F5):c.6116G>T (p.Arg2039Ile)	F5 (R2039I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479622	NM_000130.5(F5):c.6112G>A (p.Ala2038Thr)	F5 (A2038T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2561207	NM_000130.5(F5):c.6087G>T (p.Glu2029Asp)	F5 (E2029D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1750855	NM_000130.5(F5):c.5982T>C (p.Tyr1994=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency +1 more	GLikely benign
Select item 1750654	NM_000130.5(F5):c.5949C>T (p.His1983=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency +1 more	GBenign/Likely benign
Select item 873758	NM_000130.5(F5):c.5933C>T (p.Thr1978Ile)	F5 (T1978I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 873759	NM_000130.5(F5):c.5923G>C (p.Gly1975Arg)	F5 (G1975R)	Single nucleotide variant (missense variant)	Budd-Chiari syndrome +4 more	GConflicting classifications of pathogenicity
Select item 3276993	NM_000130.5(F5):c.5864C>T (p.Ala1955Val)	F5 (A1955V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1750158	NM_000130.5(F5):c.5863G>T (p.Ala1955Ser)	F5 (A1955S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276994	NM_000130.5(F5):c.5801C>T (p.Pro1934Leu)	F5 (P1934L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276975	NM_000130.5(F5):c.5733G>C (p.Met1911Ile)	F5 (M1911I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 709012	NM_000130.5(F5):c.5723G>A (p.Arg1908Lys)	F5 (R1908K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1749263	NM_000130.5(F5):c.5717A>C (p.Asp1906Ala)	F5 (D1906A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1749103	NM_000130.5(F5):c.5694G>A (p.Thr1898=)	F5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2402085	NM_000130.5(F5):c.5673C>G (p.Asn1891Lys)	F5 (N1891K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 293579	NM_000130.5(F5):c.5589C>A (p.Pro1863=)	F5	Single nucleotide variant (synonymous variant)	Thrombophilia due to thrombin defect +5 more	GConflicting classifications of pathogenicity
Select item 293580	NM_000130.5(F5):c.5558G>T (p.Gly1853Val)	F5 (G1853V)	Single nucleotide variant (missense variant)	Thrombophilia due to activated protein C resistance +5 more	GConflicting classifications of pathogenicity
Select item 293581	NM_000130.5(F5):c.5534A>G (p.His1845Arg)	F5 (H1845R)	Single nucleotide variant (missense variant)	Budd-Chiari syndrome +4 more	GUncertain significance
Select item 293582	NM_000130.5(F5):c.5490G>A (p.Leu1830=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency +5 more	GConflicting classifications of pathogenicity
Select item 2613813	NM_000130.5(F5):c.5477T>G (p.Val1826Gly)	F5 (V1826G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1747630	NM_000130.5(F5):c.5454G>C (p.Leu1818=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency +1 more	GLikely benign
Select item 1747629	NM_000130.5(F5):c.5454G>A (p.Leu1818=)	F5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3276987	NM_000130.5(F5):c.5441G>A (p.Ser1814Asn)	F5 (S1814N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3276977	NM_000130.5(F5):c.5438A>G (p.Tyr1813Cys)	F5 (Y1813C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091475	NM_000130.5(F5):c.5378G>T (p.Arg1793Ile)	F5 (R1793I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091474	NM_000130.5(F5):c.5370T>A (p.Ser1790Arg)	F5 (S1790R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3276990	NM_000130.5(F5):c.5356A>G (p.Lys1786Glu)	F5 (K1786E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 579171	NM_000130.5(F5):c.5265A>G (p.Ile1755Met)	F5 (I1755M)	Single nucleotide variant (missense variant)	Congenital factor V deficiency +9 more	GConflicting classifications of pathogenicity
Select item 2587168	NM_000130.5(F5):c.5260G>C (p.Gly1754Arg)	F5 (G1754R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287234	NM_000130.5(F5):c.5243T>A (p.Leu1748His)	F5 (L1748H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257669	NM_000130.5(F5):c.5216A>G (p.Asp1739Gly)	F5 (D1739G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330576	NM_000130.5(F5):c.5212A>G (p.Lys1738Glu)	F5 (K1738E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 255209	NM_000130.5(F5):c.5177G>A (p.Arg1726Gln)	F5 (R1726Q)	Single nucleotide variant (missense variant)	Budd-Chiari syndrome +4 more	GConflicting classifications of pathogenicity
Select item 2907391	NM_000130.5(F5):c.5151G>T (p.Gly1717=)	F5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3276976	NM_000130.5(F5):c.5125G>A (p.Val1709Ile)	F5 (V1709I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 293589	NM_000130.5(F5):c.5124C>T (p.Tyr1708=)	F5	Single nucleotide variant (synonymous variant)	Thrombophilia due to thrombin defect +5 more	GConflicting classifications of pathogenicity
Select item 1744963	NM_000130.5(F5):c.5043A>C (p.Ser1681=)	F5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1744799	NM_000130.5(F5):c.5019T>C (p.His1673=)	F5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1744609	NM_000130.5(F5):c.4992A>T (p.Ala1664=)	F5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1744556	NM_000130.5(F5):c.4988T>C (p.Leu1663Ser)	F5 (L1663S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 716052	NM_000130.5(F5):c.4923C>T (p.Leu1641=)	F5	Single nucleotide variant (synonymous variant)	Pregnancy loss, recurrent, susceptibility to, 1 +7 more	GBenign/Likely benign
Select item 1743730	NM_000130.5(F5):c.4872C>T (p.Leu1624=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency +1 more	GLikely benign
Select item 2596726	NM_000130.5(F5):c.4816T>G (p.Ser1606Ala)	F5 (S1606A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1742847	NM_000130.5(F5):c.4750A>C (p.Ile1584Leu)	F5 (I1584L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1742561	NM_000130.5(F5):c.4702G>T (p.Ala1568Ser)	F5 (A1568S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1742353	NM_000130.5(F5):c.4676A>G (p.Asn1559Ser)	F5 (N1559S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488803	NM_000130.5(F5):c.4672A>G (p.Ile1558Val)	F5 (I1558V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3230348	NM_000130.5(F5):c.4669A>G (p.Asn1557Asp)	F5 (N1557D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1742265	NM_000130.5(F5):c.4662T>C (p.Val1554=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency +1 more	GLikely benign
Select item 711302	NM_000130.5(F5):c.4641T>C (p.Asp1547=)	F5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2589305	NM_000130.5(F5):c.4634C>T (p.Pro1545Leu)	F5 (P1545L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1742044	NM_000130.5(F5):c.4630G>T (p.Val1544Leu)	F5 (V1544L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091473	NM_000130.5(F5):c.4568T>C (p.Ile1523Thr)	F5 (I1523T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 729990	NM_000130.5(F5):c.4563T>C (p.Asp1521=)	F5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 3276981	NM_000130.5(F5):c.4519T>C (p.Phe1507Leu)	F5 (F1507L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 876842	NM_000130.5(F5):c.4347G>A (p.Pro1449=)	F5	Single nucleotide variant (synonymous variant)	Budd-Chiari syndrome +4 more	GConflicting classifications of pathogenicity
Select item 293597	NM_000130.5(F5):c.4333A>G (p.Thr1445Ala)	F5 (T1445A)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 3091472	NM_000130.5(F5):c.4313T>C (p.Leu1438Pro)	F5 (L1438P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480014	NM_000130.5(F5):c.4312C>G (p.Leu1438Val)	F5 (L1438V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2890519	NM_000130.5(F5):c.4290C>T (p.Ser1430=)	F5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1739222	NM_000130.5(F5):c.4269C>T (p.Asn1423=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency +1 more	GLikely benign
Select item 3091471	NM_000130.5(F5):c.4255G>C (p.Asp1419His)	F5 (D1419H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2561201	NM_000130.5(F5):c.4229C>T (p.Thr1410Ile)	F5 (T1410I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1738184	NM_000130.5(F5):c.4143G>A (p.Gln1381=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency +1 more	GLikely benign
Select item 2381778	NM_000130.5(F5):c.4126T>C (p.Ser1376Pro)	F5 (S1376P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1737521	NM_000130.5(F5):c.4069C>T (p.Leu1357Phe)	F5 (L1357F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1737514	NM_000130.5(F5):c.4068C>T (p.Pro1356=)	F5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2242288	NM_000130.5(F5):c.4057G>A (p.Gly1353Ser)	F5 (G1353S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2530428	NM_000130.5(F5):c.3970G>T (p.Asp1324Tyr)	F5 (D1324Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 293602	NM_000130.5(F5):c.3949G>A (p.Gly1317Ser)	F5 (G1317S)	Single nucleotide variant (missense variant)	Budd-Chiari syndrome +4 more	GConflicting classifications of pathogenicity
Select item 3230347	NM_000130.5(F5):c.3927G>A (p.Gln1309=)	F5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3276973	NM_000130.5(F5):c.3838C>T (p.Leu1280Phe)	F5 (L1280F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2452901	NM_000130.5(F5):c.3833C>T (p.Pro1278Leu)	F5 (P1278L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2894918	NM_000130.5(F5):c.3821T>C (p.Met1274Thr)	F5 (M1274T)	Single nucleotide variant (missense variant)	Congenital factor V deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2382098	NM_000130.5(F5):c.3814G>T (p.Gly1272Cys)	F5 (G1272C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1735179	NM_000130.5(F5):c.3813C>T (p.Leu1271=)	F5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2383526	NM_000130.5(F5):c.3770A>C (p.Asn1257Thr)	F5 (N1257T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3091469	NM_000130.5(F5):c.3740C>A (p.Thr1247Lys)	F5 (T1247K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1734352	NM_000130.5(F5):c.3729C>T (p.Asp1243=)	F5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3276984	NM_000130.5(F5):c.3632C>T (p.Thr1211Met)	F5 (T1211M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1733329	NM_000130.5(F5):c.3621C>T (p.Asp1207=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency +1 more	GLikely benign
Select item 2587170	NM_000130.5(F5):c.3606A>G (p.Thr1202=)	F5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3276995	NM_000130.5(F5):c.3605C>A (p.Thr1202Lys)	F5 (T1202K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 3