Related gene-specific medical variations for Gene (Select 64787) - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3509674	NM_022772.4(EPS8L2):c.2003A>T (p.Lys668Ile)	EPS8L2, LOC130005081 (K668I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3509667	NM_022772.4(EPS8L2):c.1954A>G (p.Ile652Val)	EPS8L2, LOC130005081 (I652V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3352300	NM_022772.4(EPS8L2):c.594C>T (p.Ile198=)	EPS8L2, LOC130005078	Single nucleotide variant (synonymous variant)	EPS8L2-related disorder	GLikely benign
Select item 3276121	NM_022772.4(EPS8L2):c.610G>C (p.Gly204Arg)	EPS8L2, LOC130005078 (G204R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276119	NM_022772.4(EPS8L2):c.506G>C (p.Ser169Thr)	EPS8L2, LOC130005076 (S169T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276113	NM_022772.4(EPS8L2):c.1636C>G (p.Leu546Val)	EPS8L2, LOC130005080 (L546V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276112	NM_022772.4(EPS8L2):c.598C>T (p.Pro200Ser)	EPS8L2, LOC130005078 (P200S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089968	NM_022772.4(EPS8L2):c.685C>T (p.Pro229Ser)	EPS8L2, LOC130005078 (P229S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089967	NM_022772.4(EPS8L2):c.668G>A (p.Arg223His)	EPS8L2, LOC130005078 (R223H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089961	NM_022772.4(EPS8L2):c.1673T>C (p.Phe558Ser)	EPS8L2, LOC130005080 (F558S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089960	NM_022772.4(EPS8L2):c.1635C>G (p.Ile545Met)	EPS8L2, LOC130005080 (I545M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3064378	NM_022772.4(EPS8L2):c.163C>T (p.Gln55Ter)	EPS8L2 (Q55*)	Single nucleotide variant (nonsense)	Hearing loss, autosomal recessive 106	GUncertain significance
Select item 3057899	NM_022772.4(EPS8L2):c.477+7C>T	EPS8L2, LOC130005076	Single nucleotide variant (intron variant)	EPS8L2-related disorder	GLikely benign
Select item 3031855	NM_022772.4(EPS8L2):c.672G>T (p.Val224=)	EPS8L2, LOC130005078	Single nucleotide variant (synonymous variant)	EPS8L2-related disorder	GLikely benign
Select item 3025158	NM_022772.4(EPS8L2):c.2001G>A (p.Lys667=)	EPS8L2, LOC130005081	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992351	NM_022772.4(EPS8L2):c.477+13C>A	EPS8L2, LOC130005076	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981139	NM_022772.4(EPS8L2):c.1983C>T (p.Leu661=)	EPS8L2, LOC130005081	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909805	NM_022772.4(EPS8L2):c.641G>A (p.Gly214Asp)	EPS8L2, LOC130005078 (G214D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2799427	NM_022772.4(EPS8L2):c.1992G>A (p.Glu664=)	EPS8L2, LOC130005081	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790441	NM_022772.4(EPS8L2):c.478-10G>A	EPS8L2, LOC130005076	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2747955	NM_022772.4(EPS8L2):c.640G>A (p.Gly214Ser)	EPS8L2, LOC130005078 (G214S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2664027	NM_022772.4(EPS8L2):c.460C>T (p.His154Tyr)	LOC130005076, EPS8L2 (H154Y)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive 106	GUncertain significance
Select item 2601491	NM_022772.4(EPS8L2):c.540G>A (p.Met180Ile)	EPS8L2, LOC130005076 (M180I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546029	NM_022772.4(EPS8L2):c.1663G>C (p.Gly555Arg)	EPS8L2, LOC130005080 (G555R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491377	NM_022772.4(EPS8L2):c.550A>G (p.Thr184Ala)	EPS8L2, LOC130005076 (T184A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490773	NM_022772.4(EPS8L2):c.1642G>A (p.Glu548Lys)	EPS8L2, LOC130005080 (E548K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487330	NM_022772.4(EPS8L2):c.2009G>A (p.Cys670Tyr)	EPS8L2, LOC130005081 (C670Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460909	NM_022772.4(EPS8L2):c.589T>C (p.Ser197Pro)	EPS8L2, LOC130005078 (S197P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411035	NM_022772.4(EPS8L2):c.466G>A (p.Asp156Asn)	EPS8L2, LOC130005076 (D156N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387021	NM_022772.4(EPS8L2):c.523C>T (p.Arg175Trp)	EPS8L2, LOC130005076 (R175W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320707	NM_022772.4(EPS8L2):c.507C>G (p.Ser169Arg)	EPS8L2, LOC130005076 (S169R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288628	NM_022772.4(EPS8L2):c.2011G>A (p.Gly671Ser)	EPS8L2, LOC130005081 (G671S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284340	NM_022772.4(EPS8L2):c.1616G>C (p.Gly539Ala)	EPS8L2, LOC130005080 (G539A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264218	NM_022772.4(EPS8L2):c.549G>T (p.Gln183His)	EPS8L2, LOC130005076 (Q183H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2202202	NM_022772.4(EPS8L2):c.642C>T (p.Gly214=)	EPS8L2, LOC130005078	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2193268	NM_022772.4(EPS8L2):c.1935-8G>A	EPS8L2, LOC130005081	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2176567	NM_022772.4(EPS8L2):c.1950G>A (p.Leu650=)	EPS8L2, LOC130005081	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2075224	NM_022772.4(EPS8L2):c.1609C>G (p.Gln537Glu)	EPS8L2, LOC130005080 (Q537E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2048385	NM_022772.4(EPS8L2):c.1599C>T (p.Ser533=)	EPS8L2, LOC130005080	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2005689	NM_022772.4(EPS8L2):c.533A>G (p.Lys178Arg)	EPS8L2, LOC130005076 (K178R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1996902	NM_022772.4(EPS8L2):c.1624C>T (p.Pro542Ser)	EPS8L2, LOC130005080 (P542S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1981017	NM_022772.4(EPS8L2):c.506G>A (p.Ser169Asn)	LOC130005076, EPS8L2 (S169N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1960046	NM_022772.4(EPS8L2):c.1680+20T>A	EPS8L2, LOC130005080	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1946781	NM_022772.4(EPS8L2):c.475G>A (p.Glu159Lys)	EPS8L2, LOC130005076 (E159K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1919312	NM_022772.4(EPS8L2):c.619C>T (p.Pro207Ser)	EPS8L2, LOC130005078 (P207S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1669199	NM_022772.4(EPS8L2):c.558-17A>G	EPS8L2, LOC130005077	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1645042	NM_022772.4(EPS8L2):c.700+10G>A	EPS8L2, LOC130005078	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1644321	NM_022772.4(EPS8L2):c.558-13C>T	EPS8L2, LOC130005077	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1637436	NM_022772.4(EPS8L2):c.1680+18C>T	EPS8L2, LOC130005080	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1616110	NM_022772.4(EPS8L2):c.615G>C (p.Pro205=)	EPS8L2, LOC130005078	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1601050	NM_022772.4(EPS8L2):c.1680+15dup	EPS8L2, LOC130005080	Duplication (intron variant)	not provided	GBenign
Select item 1592943	NM_022772.4(EPS8L2):c.1662C>T (p.Ala554=)	EPS8L2, LOC130005080	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1585467	NM_022772.4(EPS8L2):c.478-4C>G	EPS8L2, LOC130005076	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1580792	NM_022772.4(EPS8L2):c.477+17C>T	EPS8L2, LOC130005076	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1534968	NM_022772.4(EPS8L2):c.616G>T (p.Ala206Ser)	EPS8L2, LOC130005078 (A206S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1488829	NM_022772.4(EPS8L2):c.1616_1654del (p.Gly539_Pro551del)	EPS8L2, LOC130005080	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1462407	NM_022772.4(EPS8L2):c.1661C>T (p.Ala554Val)	EPS8L2, LOC130005080 (A554V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1454470	NM_022772.4(EPS8L2):c.530_531dup (p.Lys178fs)	EPS8L2, LOC130005076 (K178fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1449791	NM_022772.4(EPS8L2):c.1657G>A (p.Asp553Asn)	EPS8L2, LOC130005080 (D553N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1425710	NM_022772.4(EPS8L2):c.609G>A (p.Gln203=)	EPS8L2, LOC130005078	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1389775	NM_022772.4(EPS8L2):c.1059+13G>A	EPS8L2, LOC130005079	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1298503	NM_022772.4(EPS8L2):c.493G>T (p.Glu165Ter)	EPS8L2, LOC130005076 (E165*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1271849	NM_022772.4(EPS8L2):c.1059+28G>A	EPS8L2, LOC130005079	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268070	NM_022772.4(EPS8L2):c.558-45A>G	EPS8L2, LOC130005077	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267946	NM_022772.4(EPS8L2):c.1059+37G>C	EPS8L2, LOC130005079	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248974	NM_022772.4(EPS8L2):c.558-51A>G	EPS8L2, LOC130005077	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242248	NM_022772.4(EPS8L2):c.1681-67G>A	EPS8L2, LOC130005080	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237028	NM_022772.4(EPS8L2):c.1935-38T>C	EPS8L2, LOC130005081	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 719155	NM_022772.4(EPS8L2):c.1935-4C>A	LOC130005081, EPS8L2	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 69