CFAP46[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3143525	NM_001200049.3(CFAP46):c.8119A>G (p.Ile2707Val)	CFAP46 (I2707V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3266452	NM_001200049.3(CFAP46):c.8071G>A (p.Gly2691Ser)	CFAP46 (G2691S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143524	NM_001200049.3(CFAP46):c.8054G>A (p.Arg2685Gln)	CFAP46 (R2685Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640979	NM_001200049.3(CFAP46):c.7998T>C (p.Ser2666=)	CFAP46	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3027413	NM_001200049.3(CFAP46):c.7969C>T (p.Arg2657Cys)	CFAP46 (R2657C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3266455	NM_001200049.3(CFAP46):c.7897G>A (p.Ala2633Thr)	CFAP46 (A2633T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467140	NM_001200049.3(CFAP46):c.7897G>C (p.Ala2633Pro)	CFAP46 (A2633P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612452	NM_001200049.3(CFAP46):c.7858C>A (p.His2620Asn)	CFAP46 (H2620N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218386	NM_001200049.3(CFAP46):c.7786T>C (p.Trp2596Arg)	CFAP46 (W2596R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143523	NM_001200049.3(CFAP46):c.7784C>T (p.Ala2595Val)	CFAP46 (A2595V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211777	NM_001200049.3(CFAP46):c.7783G>A (p.Ala2595Thr)	CFAP46 (A2595T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364013	NM_001200049.3(CFAP46):c.7771C>T (p.Arg2591Trp)	CFAP46 (R2591W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2522342	NM_001200049.3(CFAP46):c.7732G>A (p.Ala2578Thr)	CFAP46 (A2578T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380681	NM_001200049.3(CFAP46):c.7715G>A (p.Arg2572Gln)	CFAP46 (R2572Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518582	NM_001200049.3(CFAP46):c.7658A>G (p.Glu2553Gly)	CFAP46 (E2553G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143521	NM_001200049.3(CFAP46):c.7573G>A (p.Glu2525Lys)	CFAP46 (E2525K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266465	NM_001200049.3(CFAP46):c.7566G>T (p.Glu2522Asp)	CFAP46 (E2522D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266453	NM_001200049.3(CFAP46):c.7534C>G (p.Arg2512Gly)	CFAP46 (R2512G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288150	NM_001200049.3(CFAP46):c.7516G>A (p.Val2506Ile)	CFAP46 (V2506I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143520	NM_001200049.3(CFAP46):c.7486G>A (p.Ala2496Thr)	CFAP46 (A2496T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331648	NM_001200049.3(CFAP46):c.7472T>C (p.Val2491Ala)	CFAP46 (V2491A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232719	NM_001200049.3(CFAP46):c.7409C>T (p.Ala2470Val)	CFAP46 (A2470V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266456	NM_001200049.3(CFAP46):c.7397A>G (p.Gln2466Arg)	CFAP46 (Q2466R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266463	NM_001200049.3(CFAP46):c.7317C>A (p.Asp2439Glu)	CFAP46 (D2439E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2533258	NM_001200049.3(CFAP46):c.7298C>T (p.Pro2433Leu)	CFAP46 (P2433L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375084	NM_001200049.3(CFAP46):c.7252G>A (p.Val2418Ile)	CFAP46 (V2418I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3143519	NM_001200049.3(CFAP46):c.7247A>G (p.Lys2416Arg)	CFAP46 (K2416R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544031	NM_001200049.3(CFAP46):c.7213C>T (p.Pro2405Ser)	CFAP46 (P2405S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394122	NM_001200049.3(CFAP46):c.7201C>T (p.Arg2401Trp)	CFAP46 (R2401W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143518	NM_001200049.3(CFAP46):c.7180G>A (p.Gly2394Ser)	CFAP46 (G2394S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143517	NM_001200049.3(CFAP46):c.7172C>T (p.Ala2391Val)	CFAP46 (A2391V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3266454	NM_001200049.3(CFAP46):c.7105A>G (p.Lys2369Glu)	CFAP46 (K2369E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143516	NM_001200049.3(CFAP46):c.7096C>T (p.Arg2366Cys)	CFAP46 (R2366C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251623	NM_001200049.3(CFAP46):c.7070A>G (p.Glu2357Gly)	CFAP46 (E2357G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212920	NM_001200049.3(CFAP46):c.7067G>A (p.Arg2356Gln)	CFAP46 (R2356Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403119	NM_001200049.3(CFAP46):c.6979A>G (p.Ile2327Val)	CFAP46 (I2327V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3266458	NM_001200049.3(CFAP46):c.6932C>T (p.Thr2311Met)	CFAP46 (T2311M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2378728	NM_001200049.3(CFAP46):c.6922G>A (p.Glu2308Lys)	CFAP46 (E2308K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209583	NM_001200049.3(CFAP46):c.6881C>T (p.Ala2294Val)	CFAP46 (A2294V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2319240	NM_001200049.3(CFAP46):c.6857C>T (p.Ser2286Phe)	CFAP46 (S2286F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610242	NM_001200049.3(CFAP46):c.6801C>G (p.Ser2267Arg)	CFAP46 (S2267R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375763	NM_001200049.3(CFAP46):c.6794T>C (p.Leu2265Pro)	CFAP46 (L2265P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143515	NM_001200049.3(CFAP46):c.6738A>G (p.Ile2246Met)	CFAP46 (I2246M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143514	NM_001200049.3(CFAP46):c.6709G>A (p.Val2237Met)	CFAP46 (V2237M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538876	NM_001200049.3(CFAP46):c.6689G>A (p.Arg2230Gln)	CFAP46 (R2230Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226150	NM_001200049.3(CFAP46):c.6688C>T (p.Arg2230Trp)	CFAP46 (R2230W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266461	NM_001200049.3(CFAP46):c.6640A>G (p.Ile2214Val)	CFAP46 (I2214V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2320021	NM_001200049.3(CFAP46):c.6568C>T (p.Pro2190Ser)	CFAP46 (P2190S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527074	NM_001200049.3(CFAP46):c.6518T>C (p.Leu2173Pro)	CFAP46 (L2173P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266451	NM_001200049.3(CFAP46):c.6499A>G (p.Thr2167Ala)	CFAP46 (T2167A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143511	NM_001200049.3(CFAP46):c.6447A>C (p.Gln2149His)	CFAP46 (Q2149H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143510	NM_001200049.3(CFAP46):c.6430G>A (p.Val2144Met)	CFAP46 (V2144M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143509	NM_001200049.3(CFAP46):c.6406C>T (p.Arg2136Cys)	CFAP46 (R2136C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542232	NM_001200049.3(CFAP46):c.6341C>T (p.Ala2114Val)	CFAP46 (A2114V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256952	NM_001200049.3(CFAP46):c.6328A>G (p.Ser2110Gly)	CFAP46 (S2110G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310878	NM_001200049.3(CFAP46):c.6275C>T (p.Ser2092Leu)	CFAP46 (S2092L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143508	NM_001200049.3(CFAP46):c.6220G>A (p.Gly2074Ser)	CFAP46 (G2074S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285284	NM_001200049.3(CFAP46):c.6184G>T (p.Ala2062Ser)	CFAP46 (A2062S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277350	NM_001200049.3(CFAP46):c.6155T>A (p.Val2052Glu)	CFAP46 (V2052E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523227	NM_001200049.3(CFAP46):c.6125C>T (p.Ala2042Val)	CFAP46 (A2042V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237723	NM_001200049.3(CFAP46):c.6071G>C (p.Arg2024Thr)	CFAP46 (R2024T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371402	NM_001200049.3(CFAP46):c.6047C>A (p.Ala2016Glu)	CFAP46 (A2016E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143529	NM_001200049.3(CFAP46):c.6035C>T (p.Pro2012Leu)	CFAP46 (P2012L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3266464	NM_001200049.3(CFAP46):c.6022A>G (p.Ser2008Gly)	CFAP46 (S2008G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266462	NM_001200049.3(CFAP46):c.5968A>G (p.Ser1990Gly)	CFAP46 (S1990G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471253	NM_001200049.3(CFAP46):c.5941G>A (p.Ala1981Thr)	CFAP46 (A1981T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486320	NM_001200049.3(CFAP46):c.5921A>C (p.His1974Pro)	CFAP46 (H1974P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266460	NM_001200049.3(CFAP46):c.5882G>C (p.Arg1961Thr)	CFAP46 (R1961T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338196	NM_001200049.3(CFAP46):c.5857G>A (p.Ala1953Thr)	CFAP46 (A1953T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214579	NM_001200049.3(CFAP46):c.5852T>C (p.Ile1951Thr)	CFAP46 (I1951T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640980	NM_001200049.3(CFAP46):c.5832G>A (p.Leu1944=)	CFAP46	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640981	NM_001200049.3(CFAP46):c.5754del (p.Val1919fs)	CFAP46 (V1919fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2600729	NM_001200049.3(CFAP46):c.5737A>G (p.Thr1913Ala)	CFAP46 (T1913A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143528	NM_001200049.3(CFAP46):c.5632G>A (p.Val1878Met)	CFAP46 (V1878M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143527	NM_001200049.3(CFAP46):c.5612C>T (p.Ala1871Val)	CFAP46 (A1871V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599906	NM_001200049.3(CFAP46):c.5591C>T (p.Thr1864Met)	CFAP46 (T1864M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382797	NM_001200049.3(CFAP46):c.5467G>A (p.Glu1823Lys)	CFAP46 (E1823K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143526	NM_001200049.3(CFAP46):c.5432C>T (p.Ala1811Val)	CFAP46 (A1811V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590135	NM_001200049.3(CFAP46):c.5417C>T (p.Ala1806Val)	CFAP46 (A1806V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538283	NM_001200049.3(CFAP46):c.5408A>G (p.Gln1803Arg)	CFAP46 (Q1803R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591706	NM_001200049.3(CFAP46):c.5381G>A (p.Arg1794His)	CFAP46 (R1794H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544203	NM_001200049.3(CFAP46):c.5260T>C (p.Ser1754Pro)	CFAP46 (S1754P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266459	NM_001200049.3(CFAP46):c.5255A>G (p.Glu1752Gly)	CFAP46 (E1752G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143513	NM_001200049.3(CFAP46):c.5225C>T (p.Ala1742Val)	CFAP46 (A1742V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328500	NM_001200049.3(CFAP46):c.5164T>G (p.Leu1722Val)	CFAP46 (L1722V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325898	NM_001200049.3(CFAP46):c.5156G>A (p.Arg1719Gln)	CFAP46 (R1719Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276137	NM_001200049.3(CFAP46):c.5123C>T (p.Ala1708Val)	CFAP46 (A1708V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256550	NM_001200049.3(CFAP46):c.5120A>G (p.Asn1707Ser)	CFAP46 (N1707S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640982	NM_001200049.3(CFAP46):c.5091G>A (p.Thr1697=)	CFAP46	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640983	NM_001200049.3(CFAP46):c.4986C>T (p.Ile1662=)	CFAP46	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640984	NM_001200049.3(CFAP46):c.4923C>T (p.Cys1641=)	CFAP46	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640985	NM_001200049.3(CFAP46):c.4389C>T (p.His1463=)	CFAP46	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640986	NM_001200049.3(CFAP46):c.4125G>T (p.Lys1375Asn)	CFAP46 (K1375N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2640987	NM_001200049.3(CFAP46):c.3867G>A (p.Leu1289=)	CFAP46	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640988	NM_001200049.3(CFAP46):c.3807C>T (p.Tyr1269=)	CFAP46	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640989	NM_001200049.3(CFAP46):c.3738C>T (p.Val1246=)	CFAP46	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640990	NM_001200049.3(CFAP46):c.3377A>G (p.Asp1126Gly)	CFAP46 (D1126G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2640992	NM_001200049.3(CFAP46):c.2493G>A (p.Ala831=)	CFAP46	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640993	NM_001200049.3(CFAP46):c.2031C>T (p.Asp677=)	CFAP46	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1065360	NM_001200049.3(CFAP46):c.1951C>T (p.Arg651Trp)	CFAP46 (R651W)	Single nucleotide variant (missense variant)	Heterotaxy	GUncertain significance

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