"Ambry Genetics"[submitter] AND "OSBPL3"[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2205049	NM_015550.4(OSBPL3):c.2575G>A (p.Asp859Asn)	OSBPL3 (D792N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2523560	NM_015550.4(OSBPL3):c.2521C>T (p.Arg841Trp)	OSBPL3 (R805W +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2512283	NM_015550.4(OSBPL3):c.2323A>G (p.Met775Val)	OSBPL3 (M775V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283280	NM_015550.4(OSBPL3):c.2231G>A (p.Gly744Glu)	OSBPL3 (G708E +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2356481	NM_015550.4(OSBPL3):c.2086G>A (p.Gly696Arg)	OSBPL3 (G665R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270338	NM_015550.4(OSBPL3):c.2045A>G (p.Glu682Gly)	OSBPL3 (E682G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2478880	NM_015550.4(OSBPL3):c.2026G>T (p.Val676Phe)	OSBPL3 (V609F +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2542793	NM_015550.4(OSBPL3):c.1957T>C (p.Trp653Arg)	OSBPL3 (W586R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2369563	NM_015550.4(OSBPL3):c.1915C>A (p.His639Asn)	OSBPL3 (H572N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2408687	NM_015550.4(OSBPL3):c.1885G>A (p.Val629Ile)	OSBPL3 (V598I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2466642	NM_015550.4(OSBPL3):c.1850G>A (p.Arg617Gln)	OSBPL3 (R617Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287296	NM_015550.4(OSBPL3):c.1562C>T (p.Pro521Leu)	OSBPL3 (P454L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2257906	NM_015550.4(OSBPL3):c.1562C>G (p.Pro521Arg)	OSBPL3 (P485R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2296010	NM_015550.4(OSBPL3):c.1532G>A (p.Arg511Gln)	OSBPL3 (R444Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2345168	NM_015550.4(OSBPL3):c.1523C>T (p.Ala508Val)	OSBPL3 (A508V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2408427	NM_015550.4(OSBPL3):c.1498C>T (p.Pro500Ser)	OSBPL3 (P433S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321107	NM_015550.4(OSBPL3):c.1250G>T (p.Gly417Val)	OSBPL3 (G417V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2339779	NM_015550.4(OSBPL3):c.1225G>A (p.Asp409Asn)	OSBPL3 (D409N +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2389270	NM_015550.4(OSBPL3):c.1189C>T (p.Arg397Cys)	OSBPL3 (R366C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2595171	NM_015550.4(OSBPL3):c.1118C>T (p.Pro373Leu)	OSBPL3 (P342L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2512678	NM_015550.4(OSBPL3):c.1093A>T (p.Met365Leu)	OSBPL3 (M334L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2462198	NM_015550.4(OSBPL3):c.996G>A (p.Met332Ile)	OSBPL3 (M301I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2246446	NM_015550.4(OSBPL3):c.875C>T (p.Pro292Leu)	OSBPL3 (P292L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2279879	NM_015550.4(OSBPL3):c.824G>A (p.Arg275Lys)	OSBPL3 (R275K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2335501	NM_015550.4(OSBPL3):c.815C>T (p.Ser272Leu)	OSBPL3 (S272L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2496089	NM_015550.4(OSBPL3):c.760G>A (p.Ala254Thr)	OSBPL3 (A254T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2224709	NM_015550.4(OSBPL3):c.733G>A (p.Val245Ile)	OSBPL3 (V245I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2466143	NM_015550.4(OSBPL3):c.700G>A (p.Val234Ile)	OSBPL3 (V234I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2206702	NM_015550.4(OSBPL3):c.524T>C (p.Val175Ala)	OSBPL3 (V175A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331352	NM_015550.4(OSBPL3):c.518C>G (p.Ser173Cys)	OSBPL3 (S173C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2256389	NM_015550.4(OSBPL3):c.481C>T (p.His161Tyr)	OSBPL3 (H161Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2455070	NM_015550.4(OSBPL3):c.460A>G (p.Met154Val)	OSBPL3 (M154V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2206168	NM_015550.4(OSBPL3):c.416C>T (p.Ser139Leu)	OSBPL3 (S139L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2530516	NM_015550.4(OSBPL3):c.304G>A (p.Gly102Arg)	OSBPL3 (G102R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2535405	NM_015550.4(OSBPL3):c.157G>A (p.Val53Ile)	OSBPL3 (V53I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2405342	NM_015550.4(OSBPL3):c.126G>C (p.Arg42Ser)	OSBPL3 (R42S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2285023	NM_015550.4(OSBPL3):c.88A>G (p.Ser30Gly)	OSBPL3 (S30G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2238808	NM_015550.4(OSBPL3):c.62C>T (p.Thr21Ile)	OSBPL3 (T21I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2611177	NM_015550.4(OSBPL3):c.22C>G (p.Leu8Val)	OSBPL3 (L8V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 39