Related gene-specific medical variations for Gene (Select 135458) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3285089	NM_148959.4(HUS1B):c.762T>G (p.Ile254Met)	EXOC2, HUS1B (I254M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285088	NM_148959.4(HUS1B):c.279C>G (p.Ser93Arg)	EXOC2, HUS1B (S93R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285087	NM_148959.4(HUS1B):c.482G>T (p.Arg161Leu)	EXOC2, HUS1B (R161L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285086	NM_148959.4(HUS1B):c.5A>C (p.Lys2Thr)	EXOC2, HUS1B (K2T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285085	NM_148959.4(HUS1B):c.371G>A (p.Arg124His)	EXOC2, HUS1B (R124H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107645	NM_148959.4(HUS1B):c.70G>A (p.Ala24Thr)	EXOC2, HUS1B (A24T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107644	NM_148959.4(HUS1B):c.659A>T (p.Asn220Ile)	EXOC2, HUS1B (N220I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107643	NM_148959.4(HUS1B):c.631C>A (p.Pro211Thr)	EXOC2, HUS1B (P211T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107642	NM_148959.4(HUS1B):c.595T>C (p.Ser199Pro)	EXOC2, HUS1B (S199P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107641	NM_148959.4(HUS1B):c.479C>T (p.Pro160Leu)	EXOC2, HUS1B (P160L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613433	NM_148959.4(HUS1B):c.272C>A (p.Ala91Glu)	EXOC2, HUS1B (A91E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604554	NM_148959.4(HUS1B):c.439C>T (p.Pro147Ser)	EXOC2, HUS1B (P147S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533805	NM_148959.4(HUS1B):c.404G>C (p.Arg135Pro)	EXOC2, HUS1B (R135P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527579	NM_148959.4(HUS1B):c.308A>T (p.Gln103Leu)	EXOC2, HUS1B (Q103L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512353	NM_148959.4(HUS1B):c.103C>G (p.Arg35Gly)	EXOC2, HUS1B (R35G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509729	NM_148959.4(HUS1B):c.678G>C (p.Met226Ile)	EXOC2, HUS1B (M226I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507650	NM_148959.4(HUS1B):c.732A>C (p.Gln244His)	EXOC2, HUS1B (Q244H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459601	NM_148959.4(HUS1B):c.53A>T (p.His18Leu)	EXOC2, HUS1B (H18L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408590	NM_148959.4(HUS1B):c.376C>G (p.Arg126Gly)	EXOC2, HUS1B (R126G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403172	NM_148959.4(HUS1B):c.769A>G (p.Asn257Asp)	EXOC2, HUS1B (N257D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380386	NM_148959.4(HUS1B):c.35G>C (p.Cys12Ser)	EXOC2, HUS1B (C12S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377399	NM_148959.4(HUS1B):c.98G>A (p.Arg33His)	EXOC2, HUS1B (R33H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373678	NM_148959.4(HUS1B):c.250G>T (p.Ala84Ser)	EXOC2, HUS1B (A84S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2349789	NM_148959.4(HUS1B):c.111C>A (p.Asp37Glu)	EXOC2, HUS1B (D37E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324024	NM_148959.4(HUS1B):c.535G>A (p.Val179Met)	EXOC2, HUS1B (V179M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319727	NM_148959.4(HUS1B):c.503T>C (p.Ile168Thr)	EXOC2, HUS1B (I168T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305193	NM_148959.4(HUS1B):c.427C>T (p.Arg143Trp)	EXOC2, HUS1B (R143W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296154	NM_148959.4(HUS1B):c.29A>G (p.Lys10Arg)	EXOC2, HUS1B (K10R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292371	NM_148959.4(HUS1B):c.464C>G (p.Ala155Gly)	EXOC2, HUS1B (A155G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284978	NM_148959.4(HUS1B):c.128C>G (p.Pro43Arg)	EXOC2, HUS1B (P43R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248129	NM_148959.4(HUS1B):c.422T>A (p.Val141Glu)	EXOC2, HUS1B (V141E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212071	NM_148959.4(HUS1B):c.148C>T (p.His50Tyr)	EXOC2, HUS1B (H50Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209059	NM_148959.4(HUS1B):c.53A>C (p.His18Pro)	EXOC2, HUS1B (H18P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208145	NM_148959.4(HUS1B):c.676A>G (p.Met226Val)	EXOC2, HUS1B (M226V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1696509	NM_018303.6(EXOC2):c.-43-18972_-43-18956del	EXOC2, HUS1B (S38fs)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia	GUncertain significance
Select item 1178804	NM_018303.6(EXOC2):c.-43-18694C>A	EXOC2, HUS1B (H130Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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

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Links from Gene

Items: 39