Related gene-specific medical variations for Gene (Select 1938) - ClinVar

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Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2886382	NM_001961.4(EEF2):c.2110G>A (p.Val704Ile)	EEF2, LOC130063169 (V704I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2801338	NM_001961.4(EEF2):c.3+10C>G	EEF2, LOC130063170	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2684185	NM_001961.4(EEF2):c.766A>G (p.Met256Val)	EEF2 (M256V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684184	NM_001961.4(EEF2):c.713C>T (p.Ala238Val)	EEF2 (A238V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684183	NM_001961.4(EEF2):c.318C>A (p.Pro106=)	EEF2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2684182	NM_001961.4(EEF2):c.2507C>T (p.Ala836Val)	EEF2 (A836V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684181	NM_001961.4(EEF2):c.1011+5G>A	EEF2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2662577	NM_001961.4(EEF2):c.2191G>A (p.Ala731Thr)	EEF2, LOC130063169 (A731T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662094	NM_001961.4(EEF2):c.2245A>G (p.Ile749Val)	EEF2, LOC130063169 (I749V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2649020	NM_001961.4(EEF2):c.2185C>T (p.Leu729Phe)	EEF2, LOC130063169 (L729F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441180	NM_001961.4(EEF2):c.1130C>T (p.Pro377Leu)	EEF2 (P377L)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 26	GUncertain significance
Select item 2428387	NM_001961.4(EEF2):c.2118C>T (p.Asp706=)	EEF2, LOC130063169	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2267477	NM_001961.4(EEF2):c.2239G>A (p.Val747Met)	EEF2, LOC130063169 (V747M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247781	NM_001961.4(EEF2):c.2095G>A (p.Gly699Ser)	EEF2, LOC130063169 (G699S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2200564	NM_001961.4(EEF2):c.2103C>T (p.Arg701=)	EEF2, LOC130063169	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2026961	NM_001961.4(EEF2):c.2113C>T (p.His705Tyr)	EEF2, LOC130063169 (H705Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1987576	NM_001961.4(EEF2):c.2250+13C>T	EEF2, LOC130063169	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1931833	NM_001961.4(EEF2):c.2146C>T (p.Arg716Cys)	EEF2, LOC130063169 (R716C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1902968	NM_001961.4(EEF2):c.3+11C>T	EEF2, LOC130063170	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1807549	NM_001961.4(EEF2):c.874C>T (p.Leu292=)	EEF2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1807548	NM_001961.4(EEF2):c.1011+6G>T	EEF2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1807545	NM_001961.4(EEF2):c.388G>A (p.Asp130Asn)	EEF2 (D130N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807544	NM_001961.4(EEF2):c.1992C>A (p.Asp664Glu)	EEF2 (D664E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807543	NM_001961.4(EEF2):c.1107C>T (p.Cys369=)	EEF2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1807542	NM_001961.4(EEF2):c.219-10C>T	EEF2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1807541	NM_001961.4(EEF2):c.1110G>T (p.Glu370Asp)	EEF2 (E370D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1701632	NM_001961.4(EEF2):c.1039G>A (p.Gly347Arg)	EEF2 (G347R)	Single nucleotide variant (missense variant)	EEF2-related Neurodevelopmental disorder	GUncertain significance
Select item 1696627	NM_001961.4(EEF2):c.949_950delinsAG (p.Glu317Arg)	EEF2 (E317R)	Indel (missense variant)	Spinocerebellar ataxia type 26	GUncertain significance
Select item 1490082	NM_001961.4(EEF2):c.2176C>T (p.Arg726Trp)	EEF2, LOC130063169 (R726W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256092	NM_001961.4(EEF2):c.905A>T (p.Asp302Val)	EEF2 (D302V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256087	NM_001961.4(EEF2):c.1714-6T>C	EEF2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1256085	NM_001961.4(EEF2):c.1168C>G (p.Pro390Ala)	EEF2 (P390A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256084	NM_001961.4(EEF2):c.1150+4C>T	EEF2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 995097	NM_001961.4(EEF2):c.791+9C>T	EEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 995096	NM_001961.4(EEF2):c.787G>C (p.Asp263His)	EEF2 (D263H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995095	NM_001961.4(EEF2):c.712G>A (p.Ala238Thr)	EEF2 (A238T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995093	NM_001961.4(EEF2):c.591C>T (p.Ser197=)	EEF2	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 995087	NM_001961.4(EEF2):c.276C>T (p.Ser92=)	EEF2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 994607	NM_001961.4(EEF2):c.2136C>T (p.Asp712=)	EEF2, LOC130063169	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 994606	NM_001961.4(EEF2):c.2130C>T (p.His710=)	EEF2, LOC130063169	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 994605	NM_001961.4(EEF2):c.1896G>A (p.Ala632=)	EEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 994602	NM_001961.4(EEF2):c.1150G>T (p.Gly384Cys)	EEF2 (G384C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 808421	NM_001961.4(EEF2):c.2090T>C (p.Met697Thr)	EEF2, LOC130063169 (M697T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 804780	NM_001961.4(EEF2):c.2250+10A>G	EEF2, LOC130063169	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 804778	NM_001961.4(EEF2):c.1725G>A (p.Pro575=)	EEF2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 785601	NM_001961.4(EEF2):c.2205C>T (p.Thr735=)	EEF2, LOC130063169	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 729619	NM_001961.4(EEF2):c.2205C>G (p.Thr735=)	EEF2, LOC130063169	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 585829	NM_001961.4(EEF2):c.2241G>A (p.Val747=)	LOC130063169, EEF2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 585828	NM_001961.4(EEF2):c.2175A>G (p.Ala725=)	EEF2, LOC130063169	Single nucleotide variant (synonymous variant)	EEF2-related condition +1 more	GBenign
Select item 585827	NM_001961.4(EEF2):c.2133C>T (p.Ala711=)	EEF2, LOC130063169	Single nucleotide variant (synonymous variant)	EEF2-related condition +1 more	GBenign/Likely benign
Select item 585826	NM_001961.4(EEF2):c.2115C>T (p.His705=)	EEF2, LOC130063169	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 559558	NM_001961.4(EEF2):c.1784C>T (p.Ser595Phe)	EEF2 (S595F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 447303	NM_001961.4(EEF2):c.283G>A (p.Gly95Ser)	EEF2 (G95S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 447298	NM_001961.4(EEF2):c.2148C>T (p.Arg716=)	EEF2, LOC130063169	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 447297	NM_001961.4(EEF2):c.2109C>T (p.Asp703=)	EEF2, LOC130063169	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 447289	NM_001961.4(EEF2):c.1088C>T (p.Thr363Met)	EEF2 (T363M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 128959	NM_001961.4(EEF2):c.2190T>C (p.Tyr730=)	EEF2, LOC130063169	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 26 +1 more	GBenign

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Links from Gene

Items: 57