EXOC2[gene] and "single gene"[properties] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2208239	NM_018303.6(EXOC2):c.2771C>T (p.Thr924Ile)	EXOC2 (T924I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656164	NM_018303.6(EXOC2):c.2727G>A (p.Leu909=)	EXOC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3091034	NM_018303.6(EXOC2):c.2471T>C (p.Val824Ala)	EXOC2 (V824A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656165	NM_018303.6(EXOC2):c.2448T>C (p.Ile816=)	EXOC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3091033	NM_018303.6(EXOC2):c.2431G>A (p.Ala811Thr)	EXOC2 (A811T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 789742	NM_018303.6(EXOC2):c.2409G>T (p.Leu803=)	EXOC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2263670	NM_018303.6(EXOC2):c.2338T>A (p.Tyr780Asn)	EXOC2 (Y780N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091032	NM_018303.6(EXOC2):c.2333G>A (p.Gly778Glu)	EXOC2 (G778E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385791	NM_018303.6(EXOC2):c.2236C>A (p.Gln746Lys)	EXOC2 (Q746K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372237	NM_018303.6(EXOC2):c.2214C>G (p.Phe738Leu)	EXOC2 (F738L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2631923	NM_018303.6(EXOC2):c.2188G>A (p.Ala730Thr)	EXOC2 (A730T)	Single nucleotide variant (missense variant +1 more)	EXOC2-related disorder	GUncertain significance
Select item 2329950	NM_018303.6(EXOC2):c.2176T>G (p.Phe726Val)	EXOC2 (F726V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462687	NM_018303.6(EXOC2):c.2173A>G (p.Thr725Ala)	EXOC2 (T725A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091030	NM_018303.6(EXOC2):c.2168G>A (p.Arg723His)	EXOC2 (R723H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318101	NM_018303.6(EXOC2):c.2167C>T (p.Arg723Cys)	EXOC2 (R723C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091029	NM_018303.6(EXOC2):c.2042T>C (p.Ile681Thr)	EXOC2 (I681T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517448	NM_018303.6(EXOC2):c.2026A>G (p.Lys676Glu)	EXOC2 (K676E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236583	NM_018303.6(EXOC2):c.1990C>A (p.Gln664Lys)	EXOC2 (Q664K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272661	NM_018303.6(EXOC2):c.1989G>A (p.Met663Ile)	EXOC2 (M663I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091028	NM_018303.6(EXOC2):c.1882T>G (p.Ser628Ala)	EXOC2 (S628A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384293	NM_018303.6(EXOC2):c.1876G>A (p.Val626Met)	EXOC2 (V626M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298252	NM_018303.6(EXOC2):c.1832A>G (p.Asn611Ser)	EXOC2 (N611S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656167	NM_018303.6(EXOC2):c.1374C>T (p.Leu458=)	EXOC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2550603	NM_018303.6(EXOC2):c.1327T>C (p.Tyr443His)	EXOC2 (Y443H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382791	NM_018303.6(EXOC2):c.1319C>T (p.Thr440Met)	EXOC2 (T440M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1074296	NM_018303.6(EXOC2):c.1309C>T (p.Arg437Ter)	EXOC2 (R437*)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia	GPathogenic
Select item 2514084	NM_018303.6(EXOC2):c.1302G>T (p.Gln434His)	EXOC2 (Q434H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272417	NM_018303.6(EXOC2):c.1274C>T (p.Ala425Val)	EXOC2 (A425V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 161714	NM_018303.6(EXOC2):c.1241G>A (p.Arg414His)	EXOC2 (R414H)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 2366081	NM_018303.6(EXOC2):c.1237A>G (p.Thr413Ala)	EXOC2 (T413A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479425	NM_018303.6(EXOC2):c.1222G>A (p.Asp408Asn)	EXOC2 (D408N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548852	NM_018303.6(EXOC2):c.1175A>G (p.Tyr392Cys)	EXOC2 (Y392C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476456	NM_018303.6(EXOC2):c.1009G>A (p.Glu337Lys)	EXOC2 (E337K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 776105	NM_018303.6(EXOC2):c.999A>G (p.Glu333=)	EXOC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2656168	NM_018303.6(EXOC2):c.942G>A (p.Gly314=)	EXOC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2531088	NM_018303.6(EXOC2):c.934C>G (p.Leu312Val)	EXOC2 (L312V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454825	NM_018303.6(EXOC2):c.716C>T (p.Thr239Met)	EXOC2 (T239M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091037	NM_018303.6(EXOC2):c.700G>A (p.Val234Ile)	EXOC2 (V234I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1676001	NM_018303.6(EXOC2):c.639C>T (p.Phe213=)	EXOC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2243155	NM_018303.6(EXOC2):c.587A>G (p.Lys196Arg)	EXOC2 (K196R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1676002	NM_018303.6(EXOC2):c.459C>T (p.Phe153=)	EXOC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3091036	NM_018303.6(EXOC2):c.434C>T (p.Ser145Leu)	EXOC2 (S145L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091035	NM_018303.6(EXOC2):c.397A>C (p.Asn133His)	EXOC2 (N133H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1074297	NM_018303.6(EXOC2):c.389G>A (p.Arg130His)	EXOC2 (R130H)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia	GPathogenic
Select item 2656169	NM_018303.6(EXOC2):c.33C>T (p.Thr11=)	EXOC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656170	NM_018303.6(EXOC2):c.24C>G (p.Pro8=)	EXOC2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign

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Items: 46