Related gene-specific medical variations for Gene (Select 55770) - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2656166	NM_018303.6(EXOC2):c.1632C>T (p.Ser544=)	EXOC2, LOC126859547	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2613433	NM_148959.4(HUS1B):c.272C>A (p.Ala91Glu)	EXOC2, HUS1B (A91E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2604554	NM_148959.4(HUS1B):c.439C>T (p.Pro147Ser)	EXOC2, HUS1B (P147S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2602834	NM_018303.6(EXOC2):c.1532A>T (p.His511Leu)	EXOC2, LOC126859547 (H511L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2558755	NM_018303.6(EXOC2):c.1756T>A (p.Cys586Ser)	EXOC2, LOC126859547 (C586S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2533805	NM_148959.4(HUS1B):c.404G>C (p.Arg135Pro)	HUS1B, EXOC2 (R135P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2527579	NM_148959.4(HUS1B):c.308A>T (p.Gln103Leu)	EXOC2, HUS1B (Q103L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2512353	NM_148959.4(HUS1B):c.103C>G (p.Arg35Gly)	EXOC2, HUS1B (R35G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2509729	NM_148959.4(HUS1B):c.678G>C (p.Met226Ile)	EXOC2, HUS1B (M226I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2507650	NM_148959.4(HUS1B):c.732A>C (p.Gln244His)	EXOC2, HUS1B (Q244H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2460609	NM_018303.6(EXOC2):c.1753C>T (p.Arg585Cys)	EXOC2, LOC126859547 (R585C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2459601	NM_148959.4(HUS1B):c.53A>T (p.His18Leu)	EXOC2, HUS1B (H18L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2408590	NM_148959.4(HUS1B):c.376C>G (p.Arg126Gly)	EXOC2, HUS1B (R126G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2407378	NM_018303.6(EXOC2):c.1645G>A (p.Ala549Thr)	EXOC2, LOC126859547 (A549T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2403172	NM_148959.4(HUS1B):c.769A>G (p.Asn257Asp)	HUS1B, EXOC2 (N257D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2380386	NM_148959.4(HUS1B):c.35G>C (p.Cys12Ser)	HUS1B, EXOC2 (C12S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2377399	NM_148959.4(HUS1B):c.98G>A (p.Arg33His)	HUS1B, EXOC2 (R33H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2373678	NM_148959.4(HUS1B):c.250G>T (p.Ala84Ser)	EXOC2, HUS1B (A84S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2367784	NM_018303.6(EXOC2):c.1624G>A (p.Glu542Lys)	EXOC2, LOC126859547 (E542K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2354158	NM_018303.6(EXOC2):c.1603G>A (p.Gly535Arg)	EXOC2, LOC126859547 (G535R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2349789	NM_148959.4(HUS1B):c.111C>A (p.Asp37Glu)	HUS1B, EXOC2 (D37E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2324024	NM_148959.4(HUS1B):c.535G>A (p.Val179Met)	EXOC2, HUS1B (V179M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2319727	NM_148959.4(HUS1B):c.503T>C (p.Ile168Thr)	EXOC2, HUS1B (I168T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2305193	NM_148959.4(HUS1B):c.427C>T (p.Arg143Trp)	HUS1B, EXOC2 (R143W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301238	NM_018303.6(EXOC2):c.1750G>A (p.Val584Ile)	EXOC2, LOC126859547 (V584I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2296154	NM_148959.4(HUS1B):c.29A>G (p.Lys10Arg)	HUS1B, EXOC2 (K10R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294353	NM_018303.6(EXOC2):c.1743T>A (p.Asp581Glu)	EXOC2, LOC126859547 (D581E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2292371	NM_148959.4(HUS1B):c.464C>G (p.Ala155Gly)	EXOC2, HUS1B (A155G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2284978	NM_148959.4(HUS1B):c.128C>G (p.Pro43Arg)	HUS1B, EXOC2 (P43R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2248129	NM_148959.4(HUS1B):c.422T>A (p.Val141Glu)	EXOC2, HUS1B (V141E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2212071	NM_148959.4(HUS1B):c.148C>T (p.His50Tyr)	HUS1B, EXOC2 (H50Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2209059	NM_148959.4(HUS1B):c.53A>C (p.His18Pro)	HUS1B, EXOC2 (H18P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2208145	NM_148959.4(HUS1B):c.676A>G (p.Met226Val)	HUS1B, EXOC2 (M226V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1696509	NM_148959.4(HUS1B):c.112_128del (p.Ser38fs)	EXOC2, HUS1B (S38fs)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia	GUncertain significance
Select item 1178804	NM_148959.4(HUS1B):c.390C>A (p.His130Gln)	EXOC2, HUS1B (H130Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1074298	NM_018303.6(EXOC2):c.1739T>C (p.Leu580Ser)	EXOC2, LOC126859547 (L580S)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia	GPathogenic
Select item 792029	NM_148959.4(HUS1B):c.406G>T (p.Val136Leu)	EXOC2, HUS1B (V136L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 768058	NM_148959.4(HUS1B):c.529A>G (p.Ser177Gly)	EXOC2, HUS1B (S177G)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 732647	NM_148959.4(HUS1B):c.264C>T (p.Ser88=)	EXOC2, HUS1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 727093	NM_018303.6(EXOC2):c.1554C>T (p.Arg518=)	LOC126859547, EXOC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 712583	NM_018303.6(EXOC2):c.1759G>A (p.Val587Ile)	EXOC2, LOC126859547 (V587I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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

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Links from Gene

Items: 42