ClinVar for Gene (Select 1969) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358538	NM_004431.5(EPHA2):c.2799C>G (p.Ile933Met)	EPHA2 (I879M +1 more)	Single nucleotide variant (missense variant)	EPHA2-related disorder	GUncertain significance
Select item 3351880	NM_004431.5(EPHA2):c.1941G>A (p.Thr647=)	EPHA2	Single nucleotide variant (synonymous variant)	EPHA2-related disorder	GLikely benign
Select item 3350781	NM_004431.5(EPHA2):c.1764C>T (p.Tyr588=)	EPHA2	Single nucleotide variant (synonymous variant)	EPHA2-related disorder	GLikely benign
Select item 3350496	NM_004431.5(EPHA2):c.1089C>T (p.Ser363=)	EPHA2	Single nucleotide variant (synonymous variant)	EPHA2-related disorder	GLikely benign
Select item 3350435	NM_004431.5(EPHA2):c.703G>A (p.Val235Met)	EPHA2 (V181M +1 more)	Single nucleotide variant (missense variant)	EPHA2-related disorder	GUncertain significance
Select item 3350289	NM_004431.5(EPHA2):c.1844G>A (p.Arg615Gln)	EPHA2 (R561Q +1 more)	Single nucleotide variant (missense variant)	EPHA2-related disorder	GUncertain significance
Select item 3345942	NM_004431.5(EPHA2):c.1522C>G (p.Gln508Glu)	EPHA2 (Q454E +1 more)	Single nucleotide variant (missense variant)	EPHA2-related disorder	GUncertain significance
Select item 3275908	NM_004431.5(EPHA2):c.925T>C (p.Cys309Arg)	EPHA2 (C255R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275907	NM_004431.5(EPHA2):c.109G>A (p.Ala37Thr)	EPHA2 (A37T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3275905	NM_004431.5(EPHA2):c.1274G>T (p.Arg425Leu)	EPHA2 (R425L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275904	NM_004431.5(EPHA2):c.394A>G (p.Thr132Ala)	EPHA2 (T78A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275903	NM_004431.5(EPHA2):c.2767G>C (p.Glu923Gln)	EPHA2 (E869Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275902	NM_004431.5(EPHA2):c.1768G>T (p.Asp590Tyr)	EPHA2 (D590Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275901	NM_004431.5(EPHA2):c.235A>T (p.Asn79Tyr)	EPHA2 (N79Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275900	NM_004431.5(EPHA2):c.908G>A (p.Gly303Asp)	EPHA2 (G249D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275899	NM_004431.5(EPHA2):c.1813A>G (p.Thr605Ala)	EPHA2 (T551A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3255505	NM_004431.5(EPHA2):c.2145G>T (p.Gln715His)	EPHA2 (Q661H +1 more)	Single nucleotide variant (missense variant)	Cataract 6 multiple types	GUncertain significance
Select item 3252894	NM_004431.5(EPHA2):c.2800G>A (p.Glu934Lys)	EPHA2 (E880K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252247	NM_004431.5(EPHA2):c.2033T>C (p.Leu678Pro)	EPHA2 (L624P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3238938	NM_004431.5(EPHA2):c.556G>A (p.Gly186Ser)	EPHA2 (G132S +1 more)	Single nucleotide variant (missense variant)	Meniere disease	GUncertain significance
Select item 3238937	NM_004431.5(EPHA2):c.943C>T (p.Arg315Trp)	EPHA2 (R261W +1 more)	Single nucleotide variant (missense variant)	Meniere disease	GUncertain significance
Select item 3089567	NM_004431.5(EPHA2):c.719G>C (p.Gly240Ala)	EPHA2 (G186A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089566	NM_004431.5(EPHA2):c.659C>T (p.Ala220Val)	EPHA2 (A166V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089564	NM_004431.5(EPHA2):c.2765C>T (p.Thr922Met)	EPHA2 (T922M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089563	NM_004431.5(EPHA2):c.2599A>G (p.Ile867Val)	EPHA2 (I813V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089561	NM_004431.5(EPHA2):c.1825C>T (p.His609Tyr)	EPHA2 (H555Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089560	NM_004431.5(EPHA2):c.1720G>T (p.Val574Phe)	EPHA2 (V574F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089559	NM_004431.5(EPHA2):c.1457G>A (p.Arg486His)	EPHA2 (R432H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089558	NM_004431.5(EPHA2):c.1123G>A (p.Glu375Lys)	EPHA2 (E321K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089557	NM_004431.5(EPHA2):c.1018A>G (p.Met340Val)	EPHA2 (M340V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068260	NM_004431.5(EPHA2):c.2476G>T (p.Val826Leu)	EPHA2 (V772L +1 more)	Single nucleotide variant (missense variant)	Cataract 6 multiple types	GUncertain significance
Select item 3064183	NM_004431.5(EPHA2):c.1405T>C (p.Tyr469His)	EPHA2 (Y415H +1 more)	Single nucleotide variant (missense variant)	Cataract 6 multiple types	GUncertain significance
Select item 3062822	GRCh37/hg19 1p36.21-36.12(chr1:16194137-20561434)x1	ACTL8, AKR7A2 +58 more	Copy number loss	not specified	GPathogenic
Select item 3061334	NM_004431.5(EPHA2):c.2725G>A (p.Val909Met)	EPHA2 (V855M +1 more)	Single nucleotide variant (missense variant)	EPHA2-related disorder	GUncertain significance
Select item 3057521	NM_004431.5(EPHA2):c.2455T>G (p.Trp819Gly)	EPHA2 (W765G +1 more)	Single nucleotide variant (missense variant)	EPHA2-related disorder	GLikely benign
Select item 3048616	NM_004431.5(EPHA2):c.411C>G (p.Arg137=)	EPHA2	Single nucleotide variant (synonymous variant)	EPHA2-related disorder	GLikely benign
Select item 3043638	NM_004431.5(EPHA2):c.168G>A (p.Gln56=)	EPHA2	Single nucleotide variant (synonymous variant)	EPHA2-related disorder	GLikely benign
Select item 3026195	NM_004431.5(EPHA2):c.107C>T (p.Ala36Val)	EPHA2 (A36V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3025901	NM_004431.5(EPHA2):c.1582+6T>C	EPHA2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2999460	NM_004431.5(EPHA2):c.2634T>C (p.Pro878=)	EPHA2	Single nucleotide variant (synonymous variant)	Cataract 6 multiple types	GLikely benign
Select item 2893362	NM_004431.5(EPHA2):c.1456C>T (p.Arg486Cys)	EPHA2 (R486C +1 more)	Single nucleotide variant (missense variant)	Cataract 6 multiple types	GUncertain significance
Select item 2888284	NM_004431.5(EPHA2):c.1428+18G>A	EPHA2	Single nucleotide variant (intron variant)	Cataract 6 multiple types	GLikely benign
Select item 2883100	NM_004431.5(EPHA2):c.1063G>A (p.Gly355Arg)	EPHA2 (G355R +1 more)	Single nucleotide variant (missense variant)	Cataract 6 multiple types	GUncertain significance
Select item 2882875	NM_004431.5(EPHA2):c.2218C>T (p.Leu740=)	EPHA2	Single nucleotide variant (synonymous variant)	Cataract 6 multiple types	GLikely benign
Select item 2872827	NM_004431.5(EPHA2):c.1618G>A (p.Gly540Ser)	EPHA2 (G486S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2861901	NM_004431.5(EPHA2):c.1908G>A (p.Ser636=)	EPHA2	Single nucleotide variant (synonymous variant)	Cataract 6 multiple types	GLikely benign
Select item 2852618	NM_004431.5(EPHA2):c.1801G>T (p.Val601Leu)	EPHA2 (V601L +1 more)	Single nucleotide variant (missense variant)	Cataract 6 multiple types	GUncertain significance
Select item 2798355	NM_004431.5(EPHA2):c.153+20G>A	EPHA2	Single nucleotide variant (intron variant)	Cataract 6 multiple types	GLikely benign
Select item 2783478	NM_004431.5(EPHA2):c.1180C>T (p.Arg394Cys)	EPHA2 (R340C +1 more)	Single nucleotide variant (missense variant)	Cataract 6 multiple types	GUncertain significance
Select item 2750747	NM_004431.5(EPHA2):c.1200C>T (p.Ser400=)	EPHA2	Single nucleotide variant (synonymous variant)	Cataract 6 multiple types	GLikely benign
Select item 2731076	NM_004431.5(EPHA2):c.2827G>A (p.Asp943Asn)	EPHA2 (D943N +1 more)	Single nucleotide variant (missense variant)	Cataract 6 multiple types	GUncertain significance
Select item 2729233	NM_004431.5(EPHA2):c.438G>A (p.Ala146=)	EPHA2	Single nucleotide variant (synonymous variant)	Cataract 6 multiple types	GLikely benign
Select item 2722259	NM_004431.5(EPHA2):c.2694G>A (p.Thr898=)	EPHA2	Single nucleotide variant (synonymous variant)	Cataract 6 multiple types	GLikely benign
Select item 2714857	NM_004431.5(EPHA2):c.697C>T (p.His233Tyr)	EPHA2 (H179Y +1 more)	Single nucleotide variant (missense variant)	Cataract 6 multiple types	GUncertain significance
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2638359	NM_004431.5(EPHA2):c.2023A>G (p.Ile675Val)	EPHA2 (I621V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2635251	NM_004431.5(EPHA2):c.921C>T (p.Cys307=)	EPHA2	Single nucleotide variant (synonymous variant)	EPHA2-related disorder	GUncertain significance
Select item 2634661	NM_004431.5(EPHA2):c.154-5C>A	EPHA2	Single nucleotide variant (intron variant)	EPHA2-related disorder	GUncertain significance
Select item 2633255	NM_004431.5(EPHA2):c.2928_2929del (p.Ile976fs)	EPHA2 (I922fs +1 more)	Deletion (frameshift variant)	EPHA2-related disorder	GLikely pathogenic
Select item 2622124	NM_004431.5(EPHA2):c.643A>G (p.Ile215Val)	EPHA2 (I215V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613399	NM_004431.5(EPHA2):c.1112C>A (p.Pro371His)	EPHA2 (P317H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580445	NM_004431.5(EPHA2):c.2864A>C (p.Gln955Pro)	EPHA2 (Q901P +1 more)	Single nucleotide variant (missense variant)	Cataract 6 multiple types +1 more	GUncertain significance
Select item 2576708	NM_004431.5(EPHA2):c.1577C>T (p.Thr526Met)	EPHA2 (T472M +1 more)	Single nucleotide variant (missense variant)	Cataract 6 multiple types +1 more	GUncertain significance
Select item 2557478	NM_004431.5(EPHA2):c.1379C>T (p.Pro460Leu)	EPHA2 (P460L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539361	NM_004431.5(EPHA2):c.935G>T (p.Gly312Val)	EPHA2 (G312V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528248	NM_004431.5(EPHA2):c.1904C>T (p.Ser635Phe)	EPHA2 (S635F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514578	NM_004431.5(EPHA2):c.7C>T (p.Leu3Phe)	EPHA2, EPHA2-AS1 (L3F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2511643	NM_004431.5(EPHA2):c.2702C>T (p.Ser901Leu)	EPHA2 (S847L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510133	NM_004431.5(EPHA2):c.1165C>T (p.Pro389Ser)	EPHA2 (P335S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2501614	NM_004431.5(EPHA2):c.2693C>T (p.Thr898Met)	EPHA2 (T844M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501525	NM_004431.5(EPHA2):c.818G>T (p.Cys273Phe)	EPHA2 (C219F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2487261	NM_004431.5(EPHA2):c.1166C>T (p.Pro389Leu)	EPHA2 (P335L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484744	NM_004431.5(EPHA2):c.1826A>G (p.His609Arg)	EPHA2 (H609R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2441270	NM_004431.5(EPHA2):c.508G>A (p.Val170Met)	EPHA2 (V116M +1 more)	Single nucleotide variant (missense variant)	Cataract 6 multiple types	GUncertain significance
Select item 2441269	NM_004431.5(EPHA2):c.2872A>G (p.Ile958Val)	EPHA2 (I904V +1 more)	Single nucleotide variant (missense variant)	Cataract 6 multiple types	GUncertain significance
Select item 2425113	NC_000001.10:g.(?_16451710)_(16532835_?)del	ARHGEF19, EPHA2	Deletion	Cataract 6 multiple types	GPathogenic
Select item 2406070	NM_004431.5(EPHA2):c.2114G>A (p.Arg705Gln)	EPHA2 (R651Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390741	NM_004431.5(EPHA2):c.1090G>A (p.Val364Ile)	EPHA2 (V364I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390208	NM_004431.5(EPHA2):c.302C>T (p.Thr101Ile)	EPHA2 (T47I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388891	NM_004431.5(EPHA2):c.2719C>T (p.Arg907Cys)	EPHA2 (R853C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360800	NM_004431.5(EPHA2):c.649G>A (p.Gly217Ser)	EPHA2 (G217S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333108	NM_004431.5(EPHA2):c.379G>C (p.Asp127His)	EPHA2 (D73H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332300	NM_004431.5(EPHA2):c.1319C>T (p.Pro440Leu)	EPHA2 (P386L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327433	NM_004431.5(EPHA2):c.2870G>A (p.Arg957His)	EPHA2 (R903H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316671	NM_004431.5(EPHA2):c.1045A>G (p.Thr349Ala)	EPHA2 (T295A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315258	NM_004431.5(EPHA2):c.1358G>T (p.Ser453Ile)	EPHA2 (S453I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290016	NM_004431.5(EPHA2):c.866C>T (p.Pro289Leu)	EPHA2 (P235L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273575	NM_004431.5(EPHA2):c.1007C>G (p.Thr336Arg)	EPHA2 (T336R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253295	NM_004431.5(EPHA2):c.922G>A (p.Glu308Lys)	EPHA2 (E308K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250869	NM_004431.5(EPHA2):c.2368T>G (p.Ser790Ala)	EPHA2 (S736A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238106	NM_004431.5(EPHA2):c.1679G>A (p.Arg560His)	EPHA2 (R560H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224375	NM_004431.5(EPHA2):c.40T>G (p.Trp14Gly)	EPHA2-AS1, EPHA2 (W14G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2212157	NM_004431.5(EPHA2):c.722A>C (p.Glu241Ala)	EPHA2 (E187A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2175204	NM_004431.5(EPHA2):c.267A>G (p.Gly89=)	EPHA2	Single nucleotide variant (synonymous variant)	Cataract 6 multiple types	GLikely benign
Select item 2171501	NM_004431.5(EPHA2):c.1129G>A (p.Gly377Arg)	EPHA2 (G377R +1 more)	Single nucleotide variant (missense variant)	Cataract 6 multiple types +1 more	GUncertain significance
Select item 2153735	NM_004431.5(EPHA2):c.2426_2427dup (p.Val810fs)	EPHA2 (V756fs +1 more)	Duplication (frameshift variant)	Cataract 6 multiple types	GPathogenic
Select item 2090355	NM_004431.5(EPHA2):c.1970G>C (p.Arg657Pro)	EPHA2 (R657P +1 more)	Single nucleotide variant (missense variant)	Cataract 6 multiple types	GUncertain significance
Select item 2086420	NM_004431.5(EPHA2):c.1453C>A (p.Arg485Ser)	EPHA2 (R485S +1 more)	Single nucleotide variant (missense variant)	Cataract 6 multiple types	GUncertain significance

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