CFAP46[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 153718	GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3	LOC130004884, LOC130004885 +438 more	Copy number gain	See cases	GPathogenic
Select item 57403	GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1	LOC130004881, LOC130004882 +418 more	Copy number loss	See cases	GPathogenic
Select item 150499	GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1	LOC130005014, LOC130005015 +409 more	Copy number loss	See cases	GPathogenic
Select item 154374	GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1	FUOM, GLRX3 +399 more	Copy number loss	See cases	GPathogenic
Select item 154670	GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1	LOC130004911, LOC130004912 +395 more	Copy number loss	See cases	GPathogenic
Select item 57376	GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1	ABRAXAS2, ACADSB +383 more	Copy number loss	See cases	GPathogenic
Select item 149417	GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1	LOC130004994, LOC130004995 +361 more	Copy number loss	See cases	GPathogenic
Select item 57447	GRCh38/hg38 10q26.13-26.3(chr10:123307835-133620674)x1	ABRAXAS2, ADAM12 +331 more	Copy number loss	See cases	GPathogenic
Select item 155477	GRCh38/hg38 10q26.13-26.3(chr10:123576393-133613639)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 58822	GRCh38/hg38 10q26.13-26.3(chr10:123580320-133558988)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 155556	GRCh38/hg38 10q26.13-26.3(chr10:123986772-133613639)x1	ABRAXAS2, ADAM12 +311 more	Copy number loss	See cases	GPathogenic
Select item 146789	GRCh38/hg38 10q26.13-26.3(chr10:124473108-133620609)x1	ABRAXAS2, ADAM12 +297 more	Copy number loss	See cases	GPathogenic
Select item 148580	GRCh38/hg38 10q26.13-26.3(chr10:124834858-133622588)x1	LOC130005026, LOC130005027 +257 more	Copy number loss	See cases	GPathogenic
Select item 150776	GRCh38/hg38 10q26.13-26.3(chr10:125021995-133620609)x1	LOC126861090, LOC126861091 +250 more	Copy number loss	See cases	GPathogenic
Select item 152830	GRCh38/hg38 10q26.13-26.3(chr10:125452905-133785874)x3	ADAM12, ADAM8 +241 more	Copy number gain	See cases	GPathogenic
Select item 144259	GRCh38/hg38 10q26.13-26.3(chr10:125657472-133620674)x1	ADAM12, ADAM8 +234 more	Copy number loss	See cases	GPathogenic
Select item 3061841	GRCh38/hg38 10q26.2-26.3(chr10:125976998-133427130)x1	CLRN3, DOCK1 +201 more	Copy number loss	Hypotonia, ataxia, and delayed development syndrome +1 more	GPathogenic
Select item 58823	GRCh38/hg38 10q26.2-26.3(chr10:126256585-133613938)x1	ADAM12, ADAM8 +207 more	Copy number loss	See cases	GPathogenic
Select item 144558	GRCh38/hg38 10q26.2-26.3(chr10:126730896-133620609)x1	LOC130005011, LOC130005012 +199 more	Copy number loss	See cases	GPathogenic
Select item 155548	GRCh38/hg38 10q26.2-26.3(chr10:126794646-133613639)x1	ADAM8, ADGRA1 +199 more	Copy number loss	See cases	GPathogenic
Select item 155174	GRCh38/hg38 10q26.2-26.3(chr10:127435985-133622588)x1	ADAM8, ADGRA1 +192 more	Copy number loss	See cases	GPathogenic
Select item 152433	GRCh38/hg38 10q26.2-26.3(chr10:127664168-133622588)x3	ADAM8, ADGRA1 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 149102	GRCh38/hg38 10q26.2-26.3(chr10:127849717-133622588)x1	ADAM8, ADGRA1 +189 more	Copy number loss	See cases	GPathogenic
Select item 149101	GRCh38/hg38 10q26.2-26.3(chr10:128549913-133622588)x1	LOC130004973, LOC130004974 +170 more	Copy number loss	See cases	GPathogenic
Select item 147736	GRCh38/hg38 10q26.3(chr10:128872419-133564028)x3	ADAM8, ADGRA1 +168 more	Copy number gain	See cases	GPathogenic
Select item 148897	GRCh38/hg38 10q26.3(chr10:129427520-133622588)x1	ADAM8, ADGRA1 +165 more	Copy number loss	See cases	GPathogenic
Select item 146234	GRCh38/hg38 10q26.3(chr10:129549258-133620674)x1	LOC130004974, LOC130004975 +163 more	Copy number loss	See cases	GPathogenic
Select item 58825	GRCh38/hg38 10q26.3(chr10:129673966-133613938)x1	ADAM8, ADGRA1 +158 more	Copy number loss	See cases	GPathogenic
Select item 155487	GRCh38/hg38 10q26.3(chr10:130625650-133613639)x1	ADAM8, ADGRA1 +135 more	Copy number loss	See cases	GUncertain significance
Select item 155695	GRCh38/hg38 10q26.3(chr10:131424682-133613639)x1	ADAM8, ADGRA1 +127 more	Copy number loss	See cases	GLikely pathogenic
Select item 57314	GRCh38/hg38 10q26.3(chr10:131457361-133620674)x1	ADAM8, ADGRA1 +127 more	Copy number loss	See cases	GPathogenic
Select item 58853	GRCh38/hg38 10q26.3(chr10:131914873-133613938)x1	ADAM8, ADGRA1 +115 more	Copy number loss	See cases	GPathogenic
Select item 146073	GRCh38/hg38 10q26.3(chr10:132178475-133620674)x1	ADAM8, ADGRA1 +105 more	Copy number loss	See cases	GPathogenic
Select item 57950	GRCh38/hg38 10q26.3(chr10:132445383-133398465)x3	ADAM8, ADGRA1 +69 more	Copy number gain	See cases	GUncertain significance
Select item 58854	GRCh38/hg38 10q26.3(chr10:132475849-133620674)x1	ADAM8, ADGRA1 +79 more	Copy number loss	See cases	GPathogenic
Select item 157189	NC_000010.11:g.132776127_132855959dup	CFAP46, INPP5A +1 more	Duplication	Normal pregnancy	Gnot provided
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 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 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 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 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 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 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 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 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 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 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

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