OSBPL5[gene] and "single gene"[properties] - ClinVar

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Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2324174	NM_020896.4(OSBPL5):c.2626C>T (p.His876Tyr)	OSBPL5 (H876Y +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2234381	NM_020896.4(OSBPL5):c.2582G>T (p.Trp861Leu)	OSBPL5 (W793L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207078	NM_020896.4(OSBPL5):c.2528C>T (p.Thr843Met)	OSBPL5 (T843M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207077	NM_020896.4(OSBPL5):c.2488C>G (p.Gln830Glu)	OSBPL5 (Q762E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212102	NM_020896.4(OSBPL5):c.2470T>C (p.Ser824Pro)	OSBPL5 (S756P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207076	NM_020896.4(OSBPL5):c.2458G>A (p.Glu820Lys)	OSBPL5 (E820K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404207	NM_020896.4(OSBPL5):c.2441G>A (p.Arg814Gln)	OSBPL5 (R814Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303567	NM_020896.4(OSBPL5):c.2440C>T (p.Arg814Trp)	OSBPL5 (R814W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594413	NM_020896.4(OSBPL5):c.2437C>T (p.Arg813Trp)	OSBPL5 (R745W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402449	NM_020896.4(OSBPL5):c.2435C>T (p.Ala812Val)	OSBPL5 (A812V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472146	NM_020896.4(OSBPL5):c.2420G>T (p.Arg807Leu)	OSBPL5 (R739L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355683	NM_020896.4(OSBPL5):c.2420G>A (p.Arg807Gln)	OSBPL5 (R739Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407129	NM_020896.4(OSBPL5):c.2401G>T (p.Gly801Cys)	OSBPL5 (G801C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207075	NM_020896.4(OSBPL5):c.2383G>A (p.Gly795Ser)	OSBPL5 (G795S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528336	NM_020896.4(OSBPL5):c.2324C>T (p.Thr775Met)	OSBPL5 (T707M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286262	NM_020896.4(OSBPL5):c.2308G>A (p.Gly770Ser)	OSBPL5 (G702S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508556	NM_020896.4(OSBPL5):c.2279G>A (p.Arg760Gln)	OSBPL5 (R760Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716967	NM_020896.4(OSBPL5):c.2225C>T (p.Thr742Ile)	OSBPL5 (T674I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2456006	NM_020896.4(OSBPL5):c.2212G>A (p.Val738Met)	OSBPL5 (V670M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3207074	NM_020896.4(OSBPL5):c.2191C>T (p.Arg731Trp)	OSBPL5 (R731W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594627	NM_020896.4(OSBPL5):c.2146G>A (p.Asp716Asn)	OSBPL5 (D648N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374956	NM_020896.4(OSBPL5):c.2126A>G (p.Tyr709Cys)	OSBPL5 (Y641C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044996	NM_020896.4(OSBPL5):c.2123G>A (p.Arg708Gln)	OSBPL5 (R640Q +1 more)	Single nucleotide variant (missense variant)	OSBPL5-related disorder	GLikely benign
Select item 2480340	NM_020896.4(OSBPL5):c.2123G>T (p.Arg708Leu)	OSBPL5 (R640L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466792	NM_020896.4(OSBPL5):c.2105C>T (p.Thr702Ile)	OSBPL5 (T634I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352650	NM_020896.4(OSBPL5):c.2101A>T (p.Ile701Phe)	OSBPL5 (I701F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303568	NM_020896.4(OSBPL5):c.2065A>G (p.Met689Val)	OSBPL5 (M621V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480540	NM_020896.4(OSBPL5):c.2063T>C (p.Leu688Pro)	OSBPL5 (L620P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559822	NM_020896.4(OSBPL5):c.2051G>A (p.Arg684Gln)	OSBPL5 (R684Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382478	NM_020896.4(OSBPL5):c.2038C>T (p.Arg680Trp)	OSBPL5 (R680W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354133	NM_020896.4(OSBPL5):c.2033G>A (p.Arg678Gln)	OSBPL5 (R610Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560170	NM_020896.4(OSBPL5):c.1959C>A (p.His653Gln)	OSBPL5 (H585Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410069	NM_020896.4(OSBPL5):c.1942G>A (p.Glu648Lys)	OSBPL5 (E648K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398082	NM_020896.4(OSBPL5):c.1931A>G (p.Glu644Gly)	OSBPL5 (E644G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468871	NM_020896.4(OSBPL5):c.1928C>T (p.Thr643Met)	OSBPL5 (T575M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602936	NM_020896.4(OSBPL5):c.1873G>A (p.Gly625Arg)	OSBPL5 (G557R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207072	NM_020896.4(OSBPL5):c.1849A>G (p.Ser617Gly)	OSBPL5 (S549G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390316	NM_020896.4(OSBPL5):c.1843G>A (p.Gly615Arg)	OSBPL5 (G547R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641515	NM_020896.4(OSBPL5):c.1842C>T (p.Ser614=)	OSBPL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2470896	NM_020896.4(OSBPL5):c.1842C>A (p.Ser614Arg)	OSBPL5 (S614R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2591734	NM_020896.4(OSBPL5):c.1815G>C (p.Arg605Ser)	OSBPL5 (R537S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303570	NM_020896.4(OSBPL5):c.1757C>T (p.Ser586Leu)	OSBPL5 (S586L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352687	NM_020896.4(OSBPL5):c.1733G>A (p.Gly578Asp)	OSBPL5 (G510D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307171	NM_020896.4(OSBPL5):c.1730G>A (p.Gly577Glu)	OSBPL5 (G577E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786186	NM_020896.4(OSBPL5):c.1522+9G>A	OSBPL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3207071	NM_020896.4(OSBPL5):c.1459G>A (p.Val487Ile)	OSBPL5 (V419I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393760	NM_020896.4(OSBPL5):c.1444G>A (p.Val482Met)	OSBPL5 (V482M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717228	NM_020896.4(OSBPL5):c.1443C>T (p.Pro481=)	OSBPL5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 787083	NM_020896.4(OSBPL5):c.1389G>A (p.Pro463=)	OSBPL5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3207070	NM_020896.4(OSBPL5):c.1384C>T (p.His462Tyr)	OSBPL5 (H394Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258926	NM_020896.4(OSBPL5):c.1327G>C (p.Gly443Arg)	OSBPL5 (G375R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374944	NM_020896.4(OSBPL5):c.1292G>A (p.Arg431Gln)	OSBPL5 (R363Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 787084	NM_020896.4(OSBPL5):c.1245-6T>C	OSBPL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2330855	NM_020896.4(OSBPL5):c.1202A>G (p.Asn401Ser)	OSBPL5 (N333S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207069	NM_020896.4(OSBPL5):c.1187C>T (p.Pro396Leu)	OSBPL5 (P328L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207068	NM_020896.4(OSBPL5):c.1176C>G (p.Phe392Leu)	OSBPL5 (F324L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319422	NM_020896.4(OSBPL5):c.1162G>C (p.Val388Leu)	OSBPL5 (V388L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207067	NM_020896.4(OSBPL5):c.1070C>T (p.Ala357Val)	OSBPL5 (A357V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709989	NM_020896.4(OSBPL5):c.1059+7G>C	OSBPL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2377854	NM_020896.4(OSBPL5):c.1013G>A (p.Arg338Gln)	OSBPL5 (R338Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709283	NM_020896.4(OSBPL5):c.1013G>C (p.Arg338Pro)	OSBPL5 (R270P +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3207066	NM_020896.4(OSBPL5):c.1007C>T (p.Pro336Leu)	OSBPL5 (P336L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252246	NM_020896.4(OSBPL5):c.977G>T (p.Gly326Val)	OSBPL5 (G258V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207085	NM_020896.4(OSBPL5):c.962G>A (p.Arg321Gln)	OSBPL5 (R253Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319802	NM_020896.4(OSBPL5):c.961C>T (p.Arg321Trp)	OSBPL5 (R253W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352969	NM_020896.4(OSBPL5):c.950A>G (p.Gln317Arg)	OSBPL5 (Q317R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263389	NM_020896.4(OSBPL5):c.892G>C (p.Asp298His)	OSBPL5 (D230H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773009	NM_020896.4(OSBPL5):c.867-4C>A	OSBPL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2332653	NM_020896.4(OSBPL5):c.848C>T (p.Pro283Leu)	OSBPL5 (P215L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303566	NM_020896.4(OSBPL5):c.770G>A (p.Arg257Gln)	OSBPL5 (R257Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207084	NM_020896.4(OSBPL5):c.764C>G (p.Pro255Arg)	OSBPL5 (P255R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326317	NM_020896.4(OSBPL5):c.695G>A (p.Arg232His)	OSBPL5 (R164H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204446	NM_020896.4(OSBPL5):c.682G>A (p.Glu228Lys)	OSBPL5 (E228K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207083	NM_020896.4(OSBPL5):c.674C>T (p.Ala225Val)	OSBPL5 (A157V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549720	NM_020896.4(OSBPL5):c.652A>G (p.Ser218Gly)	OSBPL5 (S150G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345736	NM_020896.4(OSBPL5):c.458T>C (p.Val153Ala)	OSBPL5 (V153A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207081	NM_020896.4(OSBPL5):c.457G>T (p.Val153Leu)	OSBPL5 (V153L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275241	NM_020896.4(OSBPL5):c.379G>T (p.Val127Phe)	OSBPL5 (V127F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331125	NM_020896.4(OSBPL5):c.358G>A (p.Ala120Thr)	OSBPL5 (A120T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207080	NM_020896.4(OSBPL5):c.320G>A (p.Arg107Gln)	OSBPL5 (R107Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303569	NM_020896.4(OSBPL5):c.309G>T (p.Lys103Asn)	OSBPL5 (K103N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315903	NM_020896.4(OSBPL5):c.305A>G (p.Gln102Arg)	OSBPL5 (Q102R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768420	NM_020896.4(OSBPL5):c.220-7C>T	OSBPL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2353428	NM_020896.4(OSBPL5):c.188C>T (p.Pro63Leu)	OSBPL5 (P63L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785336	NM_020896.4(OSBPL5):c.161C>T (p.Pro54Leu)	OSBPL5 (P54L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2397279	NM_020896.4(OSBPL5):c.117G>C (p.Glu39Asp)	OSBPL5 (E39D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292510	NM_020896.4(OSBPL5):c.105C>A (p.Ser35Arg)	OSBPL5 (S35R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268918	NM_020896.4(OSBPL5):c.77G>C (p.Arg26Pro)	OSBPL5 (R26P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207082	NM_020896.4(OSBPL5):c.59C>A (p.Pro20His)	OSBPL5 (P20H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380996	NM_020896.4(OSBPL5):c.29G>A (p.Arg10His)	OSBPL5 (R10H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538226	NM_020896.4(OSBPL5):c.26G>A (p.Arg9His)	OSBPL5 (R9H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209660	NM_020896.4(OSBPL5):c.25C>T (p.Arg9Cys)	OSBPL5 (R9C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471269	NM_020896.4(OSBPL5):c.16T>A (p.Phe6Ile)	OSBPL5 (F6I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511973	NM_020896.4(OSBPL5):c.13G>C (p.Ala5Pro)	OSBPL5 (A5P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1270496	NM_020896.4(OSBPL5):c.-22+20G>C	OSBPL5	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 95