OSBPL10[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 3303528	NM_017784.5(OSBPL10):c.2273A>G (p.Asn758Ser)	OSBPL10 (N694S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215661	NM_017784.5(OSBPL10):c.2234A>G (p.Lys745Arg)	OSBPL10 (K745R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207027	NM_017784.5(OSBPL10):c.2215C>T (p.Arg739Cys)	OSBPL10 (R739C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207026	NM_017784.5(OSBPL10):c.2209A>T (p.Asn737Tyr)	OSBPL10 (N737Y +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3303530	NM_017784.5(OSBPL10):c.2206G>A (p.Glu736Lys)	OSBPL10 (E672K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618921	NM_017784.5(OSBPL10):c.2164C>T (p.Arg722Trp)	OSBPL10 (R722W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207025	NM_017784.5(OSBPL10):c.2128C>T (p.Arg710Trp)	OSBPL10 (R646W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308538	NM_017784.5(OSBPL10):c.2089G>C (p.Glu697Gln)	OSBPL10 (E633Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308537	NM_017784.5(OSBPL10):c.2088G>C (p.Met696Ile)	OSBPL10 (M632I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594709	NM_017784.5(OSBPL10):c.2032A>G (p.Thr678Ala)	OSBPL10 (T614A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207024	NM_017784.5(OSBPL10):c.2030C>T (p.Thr677Ile)	OSBPL10 (T613I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303531	NM_017784.5(OSBPL10):c.1979A>G (p.Asn660Ser)	OSBPL10 (N660S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207023	NM_017784.5(OSBPL10):c.1975T>C (p.Trp659Arg)	OSBPL10 (W659R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399135	NM_017784.5(OSBPL10):c.1868C>T (p.Thr623Ile)	OSBPL10 (T559I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234606	NM_017784.5(OSBPL10):c.1831G>A (p.Val611Ile)	OSBPL10 (V547I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207022	NM_017784.5(OSBPL10):c.1810T>A (p.Trp604Arg)	OSBPL10 (W540R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207021	NM_017784.5(OSBPL10):c.1756G>A (p.Glu586Lys)	OSBPL10 (E586K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207020	NM_017784.5(OSBPL10):c.1639G>A (p.Glu547Lys)	OSBPL10 (E483K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2455854	NM_017784.5(OSBPL10):c.1552G>A (p.Asp518Asn)	OSBPL10 (D454N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255778	NM_017784.5(OSBPL10):c.1549G>A (p.Ala517Thr)	OSBPL10 (A517T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382407	NM_017784.5(OSBPL10):c.1537G>A (p.Glu513Lys)	OSBPL10 (E513K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382621	NM_017784.5(OSBPL10):c.1517G>A (p.Arg506His)	OSBPL10 (R506H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3303533	NM_017784.5(OSBPL10):c.1484A>T (p.Lys495Met)	OSBPL10 (K495M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207019	NM_017784.5(OSBPL10):c.1474G>A (p.Glu492Lys)	OSBPL10 (E428K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303532	NM_017784.5(OSBPL10):c.1422A>T (p.Leu474Phe)	OSBPL10 (L474F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207018	NM_017784.5(OSBPL10):c.1417G>A (p.Ala473Thr)	OSBPL10 (A409T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339327	NM_017784.5(OSBPL10):c.1359G>C (p.Glu453Asp)	OSBPL10 (E389D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207017	NM_017784.5(OSBPL10):c.1357G>A (p.Glu453Lys)	OSBPL10 (E389K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467117	NM_017784.5(OSBPL10):c.1339G>A (p.Ala447Thr)	OSBPL10 (A447T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395550	NM_017784.5(OSBPL10):c.1190G>A (p.Arg397His)	OSBPL10 (R333H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2607947	NM_017784.5(OSBPL10):c.1116G>C (p.Leu372Phe)	OSBPL10 (L372F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487371	NM_017784.5(OSBPL10):c.973C>T (p.His325Tyr)	OSBPL10 (H261Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467248	NM_017784.5(OSBPL10):c.953G>T (p.Gly318Val)	OSBPL10 (G254V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589717	NM_017784.5(OSBPL10):c.881A>G (p.Asn294Ser)	OSBPL10 (N230S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2334249	NM_017784.5(OSBPL10):c.805A>G (p.Thr269Ala)	OSBPL10 (T269A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207032	NM_017784.5(OSBPL10):c.736A>C (p.Asn246His)	OSBPL10 (N182H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243511	NM_017784.5(OSBPL10):c.701A>G (p.Tyr234Cys)	OSBPL10 (Y234C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207031	NM_017784.5(OSBPL10):c.679G>A (p.Ala227Thr)	OSBPL10 (A227T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2653644	NM_017784.5(OSBPL10):c.669G>A (p.Ser223=)	OSBPL10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2259402	NM_017784.5(OSBPL10):c.655A>G (p.Thr219Ala)	OSBPL10 (T219A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207029	NM_017784.5(OSBPL10):c.554G>A (p.Arg185Gln)	OSBPL10 (R185Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373963	NM_017784.5(OSBPL10):c.526A>G (p.Met176Val)	OSBPL10 (M176V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592900	NM_017784.5(OSBPL10):c.464A>G (p.Asp155Gly)	OSBPL10 (D155G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258849	NM_017784.5(OSBPL10):c.333G>C (p.Glu111Asp)	OSBPL10 (E111D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321537	NM_017784.5(OSBPL10):c.330T>A (p.Asn110Lys)	OSBPL10 (N110K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207028	NM_017784.5(OSBPL10):c.229C>T (p.Leu77Phe)	OSBPL10 (L77F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365493	NM_017784.5(OSBPL10):c.199G>C (p.Gly67Arg)	LOC129936413, OSBPL10 (G67R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258043	NM_017784.5(OSBPL10):c.192C>G (p.Ser64Arg)	OSBPL10, LOC129936413 (S64R)	Single nucleotide variant (missense variant)	Neoplasm	OUncertain significance
Select item 3303529	NM_017784.5(OSBPL10):c.145C>A (p.Leu49Ile)	OSBPL10 (L49I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544129	NM_017784.5(OSBPL10):c.133G>T (p.Ala45Ser)	OSBPL10 (A45S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207030	NM_017784.5(OSBPL10):c.64A>G (p.Ser22Gly)	OSBPL10 (S22G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606328	NM_017784.5(OSBPL10):c.42C>A (p.Ser14Arg)	OSBPL10 (S14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259812	NM_001137674.3(ZNF860):c.109G>A (p.Glu37Lys)	OSBPL10, ZNF860 (E37K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478219	NM_001137674.3(ZNF860):c.122T>C (p.Leu41Pro)	OSBPL10, ZNF860 (L41P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259807	NM_001137674.3(ZNF860):c.131C>A (p.Thr44Lys)	OSBPL10, ZNF860 (T44K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231285	NM_001137674.3(ZNF860):c.131C>T (p.Thr44Met)	OSBPL10, ZNF860 (T44M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391668	NM_001137674.3(ZNF860):c.167A>G (p.Asn56Ser)	OSBPL10, ZNF860 (N56S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559217	NM_001137674.3(ZNF860):c.209T>G (p.Met70Arg)	OSBPL10, ZNF860 (M70R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198869	NM_001137674.3(ZNF860):c.210G>A (p.Met70Ile)	OSBPL10, ZNF860 (M70I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229724	NM_001137674.3(ZNF860):c.233C>G (p.Ala78Gly)	OSBPL10, ZNF860 (A78G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2600718	NM_001137674.3(ZNF860):c.415G>A (p.Asp139Asn)	OSBPL10, ZNF860 (D139N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403327	NM_001137674.3(ZNF860):c.424G>A (p.Asp142Asn)	OSBPL10, ZNF860 (D142N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273603	NM_001137674.3(ZNF860):c.456A>C (p.Lys152Asn)	OSBPL10, ZNF860 (K152N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198870	NM_001137674.3(ZNF860):c.496C>G (p.Leu166Val)	OSBPL10, ZNF860 (L166V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255059	NM_001137674.3(ZNF860):c.496C>T (p.Leu166Phe)	OSBPL10, ZNF860 (L166F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775194	NM_001137674.3(ZNF860):c.573G>A (p.Thr191=)	OSBPL10, ZNF860	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3259811	NM_001137674.3(ZNF860):c.596C>T (p.Pro199Leu)	OSBPL10, ZNF860 (P199L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409830	NM_001137674.3(ZNF860):c.649C>T (p.Leu217Phe)	OSBPL10, ZNF860 (L217F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303551	NM_001137674.3(ZNF860):c.746A>C (p.Gln249Pro)	OSBPL10, ZNF860 (Q249P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259808	NM_001137674.3(ZNF860):c.764G>A (p.Gly255Glu)	OSBPL10, ZNF860 (G255E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485633	NM_001137674.3(ZNF860):c.812G>A (p.Arg271Gln)	OSBPL10, ZNF860 (R271Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495792	NM_001137674.3(ZNF860):c.818T>G (p.Leu273Arg)	OSBPL10, ZNF860 (L273R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538685	NM_001137674.3(ZNF860):c.833G>C (p.Arg278Thr)	OSBPL10, ZNF860 (R278T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239209	NM_001137674.3(ZNF860):c.845G>C (p.Gly282Ala)	OSBPL10, ZNF860 (G282A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608540	NM_001137674.3(ZNF860):c.898A>C (p.Asn300His)	OSBPL10, ZNF860 (N300H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325420	NM_001137674.3(ZNF860):c.933G>T (p.Glu311Asp)	OSBPL10, ZNF860 (E311D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198871	NM_001137674.3(ZNF860):c.973C>T (p.Arg325Cys)	OSBPL10, ZNF860 (R325C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268776	NM_001137674.3(ZNF860):c.995A>G (p.His332Arg)	OSBPL10, ZNF860 (H332R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198866	NM_001137674.3(ZNF860):c.1013G>A (p.Gly338Glu)	OSBPL10, ZNF860 (G338E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775195	NM_001137674.3(ZNF860):c.1071C>T (p.Leu357=)	OSBPL10, ZNF860	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2254233	NM_001137674.3(ZNF860):c.1256T>G (p.Ile419Ser)	OSBPL10, ZNF860 (I419S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335185	NM_001137674.3(ZNF860):c.1263T>A (p.Asn421Lys)	OSBPL10, ZNF860 (N421K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259809	NM_001137674.3(ZNF860):c.1289A>G (p.Lys430Arg)	OSBPL10, ZNF860 (K430R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456297	NM_001137674.3(ZNF860):c.1313G>A (p.Arg438His)	OSBPL10, ZNF860 (R438H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400993	NM_001137674.3(ZNF860):c.1337G>A (p.Arg446Gln)	OSBPL10, ZNF860 (R446Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259806	NM_001137674.3(ZNF860):c.1349G>A (p.Gly450Glu)	OSBPL10, ZNF860 (G450E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232722	NM_001137674.3(ZNF860):c.1352A>T (p.Glu451Val)	OSBPL10, ZNF860 (E451V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551591	NM_001137674.3(ZNF860):c.1504G>T (p.Ala502Ser)	OSBPL10, ZNF860 (A502S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455072	NM_001137674.3(ZNF860):c.1579C>T (p.Arg527Cys)	OSBPL10, ZNF860 (R527C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268053	NM_001137674.3(ZNF860):c.1673G>T (p.Arg558Ile)	OSBPL10, ZNF860 (R558I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198867	NM_001137674.3(ZNF860):c.1703G>A (p.Cys568Tyr)	OSBPL10, ZNF860 (C568Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377798	NM_001137674.3(ZNF860):c.1825C>T (p.Arg609Cys)	OSBPL10, ZNF860 (R609C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198868	NM_001137674.3(ZNF860):c.1841G>T (p.Arg614Ile)	OSBPL10, ZNF860 (R614I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281434	NM_001137674.3(ZNF860):c.1852G>A (p.Gly618Arg)	OSBPL10, ZNF860 (G618R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507814	NM_001137674.3(ZNF860):c.1874A>G (p.His625Arg)	OSBPL10, ZNF860 (H625R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775196	NM_001137674.3(ZNF860):c.1880G>A (p.Arg627His)	OSBPL10, ZNF860 (R627H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic

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