ClinVar for Gene (Select 2043) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 237

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3089589	NM_004438.5(EPHA4):c.530G>A (p.Ser177Asn)	EPHA4 (S177N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089588	NM_004438.5(EPHA4):c.2746G>A (p.Val916Met)	EPHA4 (V916M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089587	NM_004438.5(EPHA4):c.2685C>G (p.Ser895Arg)	EPHA4 (S895R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089586	NM_004438.5(EPHA4):c.2414G>A (p.Ser805Asn)	EPHA4 (S754N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089585	NM_004438.5(EPHA4):c.2330C>G (p.Ala777Gly)	EPHA4 (A726G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089584	NM_004438.5(EPHA4):c.1600A>G (p.Thr534Ala)	EPHA4 (T483A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089583	NM_004438.5(EPHA4):c.1297A>G (p.Thr433Ala)	EPHA4 (T382A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089582	NM_004438.5(EPHA4):c.1021G>A (p.Glu341Lys)	EPHA4 (E341K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068074	NM_004438.5(EPHA4):c.2960G>C (p.Ter987Ser)	EPHA4, LOC126806527	Single nucleotide variant (stop lost +1 more)	not provided	GUncertain significance
Select item 3067653	NM_004438.5(EPHA4):c.1186A>G (p.Thr396Ala)	EPHA4 (T345A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020073	NM_004438.5(EPHA4):c.159+10G>C	EPHA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012687	NM_004438.5(EPHA4):c.2224T>C (p.Tyr742His)	EPHA4 (Y691H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007722	NM_004438.5(EPHA4):c.2917C>T (p.Arg973Ter)	EPHA4, LOC126806527 (R973* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3000526	NM_004438.5(EPHA4):c.66T>C (p.Gly22=)	EPHA4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2988975	NM_004438.5(EPHA4):c.2552T>C (p.Ile851Thr)	EPHA4 (I800T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988177	NM_004438.5(EPHA4):c.1915C>T (p.Arg639Cys)	EPHA4 (R588C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987572	NM_004438.5(EPHA4):c.2915T>C (p.Met972Thr)	EPHA4, LOC126806527 (M972T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2984885	NM_004438.5(EPHA4):c.2411C>G (p.Ala804Gly)	EPHA4 (A753G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984258	NM_004438.5(EPHA4):c.91+18T>C	EPHA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984082	NM_004438.5(EPHA4):c.689G>A (p.Arg230Gln)	EPHA4 (R179Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983521	NM_004438.5(EPHA4):c.2877C>A (p.Ile959=)	EPHA4, LOC126806527	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2979891	NM_004438.5(EPHA4):c.2835C>T (p.His945=)	EPHA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977756	NM_004438.5(EPHA4):c.10A>T (p.Ile4Phe)	EPHA4 (I4F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2970487	NM_004438.5(EPHA4):c.2074+11_2074+12insT	EPHA4	Insertion (intron variant)	not provided	GLikely benign
Select item 2968814	NM_004438.5(EPHA4):c.1927C>T (p.Pro643Ser)	EPHA4 (P643S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960513	NM_004438.5(EPHA4):c.955G>A (p.Asp319Asn)	EPHA4 (D268N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959134	NM_004438.5(EPHA4):c.824-22_824-19del	EPHA4	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2908824	NM_004438.5(EPHA4):c.2875A>G (p.Ile959Val)	EPHA4, LOC126806527 (I959V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2906837	NM_004438.5(EPHA4):c.714A>T (p.Glu238Asp)	EPHA4 (E187D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2906028	NM_004438.5(EPHA4):c.1775-3C>T	EPHA4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2898244	NM_004438.5(EPHA4):c.2751C>T (p.Gly917=)	EPHA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888917	NM_004438.5(EPHA4):c.92-5dup	EPHA4	Duplication (intron variant)	not provided	GBenign
Select item 2871079	NM_004438.5(EPHA4):c.2794T>C (p.Phe932Leu)	EPHA4 (F932L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2862696	NM_004438.5(EPHA4):c.2304C>T (p.Ser768=)	EPHA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860954	NM_004438.5(EPHA4):c.2950G>C (p.Val984Leu)	EPHA4, LOC126806527 (V984L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2849866	NM_004438.5(EPHA4):c.1889-5C>T	EPHA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846678	NM_004438.5(EPHA4):c.160-12G>C	EPHA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2814873	NM_004438.5(EPHA4):c.2375C>T (p.Ala792Val)	EPHA4 (A792V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2804560	NM_004438.5(EPHA4):c.2612T>A (p.Phe871Tyr)	EPHA4 (F871Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2797088	NM_004438.5(EPHA4):c.1119C>T (p.Asp373=)	EPHA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2784285	NM_004438.5(EPHA4):c.2109G>A (p.Glu703=)	EPHA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782701	NM_004438.5(EPHA4):c.804G>A (p.Glu268=)	EPHA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2770354	NM_004438.5(EPHA4):c.2847-8A>G	EPHA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2752099	NM_004438.5(EPHA4):c.1596C>G (p.Thr532=)	EPHA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715544	NM_004438.5(EPHA4):c.2457G>A (p.Ser819=)	EPHA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2651940	NM_004438.5(EPHA4):c.1269C>A (p.Asn423Lys)	EPHA4 (N372K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2617737	NM_004438.5(EPHA4):c.2530C>T (p.Pro844Ser)	EPHA4 (P793S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2550272	NM_004438.5(EPHA4):c.2684G>C (p.Ser895Thr)	EPHA4 (S895T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541135	NM_004438.5(EPHA4):c.2083G>C (p.Val695Leu)	EPHA4 (V695L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539842	NM_004438.5(EPHA4):c.1946G>A (p.Cys649Tyr)	EPHA4 (C649Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2502421	NM_004438.5(EPHA4):c.1655_1656del (p.Ser552fs)	EPHA4 (S501fs +1 more)	Microsatellite (frameshift variant)	See cases	GLikely pathogenic
Select item 2499562	NM_004438.5(EPHA4):c.209A>T (p.Tyr70Phe)	EPHA4 (Y19F +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2494574	NM_004438.5(EPHA4):c.1513C>G (p.Pro505Ala)	EPHA4 (P454A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425115	NC_000002.11:g.(?_222290748)_(222436968_?)del	EPHA4	Deletion	not provided	GUncertain significance
Select item 2409964	NM_004438.5(EPHA4):c.2773A>G (p.Met925Val)	EPHA4 (M925V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388398	NM_004438.5(EPHA4):c.379T>C (p.Tyr127His)	EPHA4 (Y127H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385244	NM_004438.5(EPHA4):c.2245G>A (p.Ala749Thr)	EPHA4 (A749T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367648	NM_004438.5(EPHA4):c.122G>C (p.Gly41Ala)	EPHA4 (G41A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340217	NM_004438.5(EPHA4):c.1154A>G (p.His385Arg)	EPHA4 (H334R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306567	NM_004438.5(EPHA4):c.2942G>T (p.Gly981Val)	EPHA4, LOC126806527 (G930V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255945	NM_004438.5(EPHA4):c.982C>T (p.Pro328Ser)	EPHA4 (P328S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248674	NM_004438.5(EPHA4):c.1573A>G (p.Ser525Gly)	EPHA4 (S474G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2244319	NM_004438.5(EPHA4):c.847G>A (p.Ala283Thr)	EPHA4 (A232T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210940	NM_004438.5(EPHA4):c.2396G>A (p.Arg799His)	EPHA4 (R748H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210268	NM_004438.5(EPHA4):c.2713C>A (p.Pro905Thr)	EPHA4 (P854T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209489	NM_004438.5(EPHA4):c.932G>A (p.Arg311Gln)	EPHA4 (R260Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2198977	NM_004438.5(EPHA4):c.810C>T (p.Ser270=)	EPHA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2197249	NM_004438.5(EPHA4):c.1661C>T (p.Ser554Leu)	EPHA4 (S554L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2192948	NM_004438.5(EPHA4):c.2213C>G (p.Ser738Cys)	EPHA4 (S687C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189111	NM_004438.5(EPHA4):c.327T>C (p.Asn109=)	EPHA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2170834	NM_004438.5(EPHA4):c.798T>C (p.His266=)	EPHA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2140206	NM_004438.5(EPHA4):c.963C>T (p.Ala321=)	EPHA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2130377	NM_004438.5(EPHA4):c.335C>T (p.Pro112Leu)	EPHA4 (P61L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2094339	NM_004438.5(EPHA4):c.1375C>T (p.Leu459=)	EPHA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2085630	NM_004438.5(EPHA4):c.2460C>T (p.Tyr820=)	EPHA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2082601	NM_004438.5(EPHA4):c.1717C>A (p.Arg573=)	EPHA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2076994	NM_004438.5(EPHA4):c.1457G>A (p.Arg486Gln)	EPHA4 (R435Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2071912	NM_004438.5(EPHA4):c.2150G>T (p.Arg717Ile)	EPHA4 (R717I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2051018	NM_004438.5(EPHA4):c.1806C>T (p.Tyr602=)	EPHA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2047541	NM_004438.5(EPHA4):c.1227C>T (p.Tyr409=)	EPHA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2032554	NM_004438.5(EPHA4):c.1524C>T (p.Ser508=)	EPHA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2022014	NM_004438.5(EPHA4):c.2331A>C (p.Ala777=)	EPHA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2015804	NM_004438.5(EPHA4):c.2305C>A (p.Arg769=)	EPHA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2005707	NM_004438.5(EPHA4):c.1422T>C (p.Tyr474=)	EPHA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1993103	NM_004438.5(EPHA4):c.1462T>A (p.Tyr488Asn)	EPHA4 (Y437N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1992159	NM_004438.5(EPHA4):c.1318+12A>G	EPHA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1990851	NM_004438.5(EPHA4):c.1443+11A>C	EPHA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1982059	NM_004438.5(EPHA4):c.1239C>T (p.Ile413=)	EPHA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1982058	NM_004438.5(EPHA4):c.1911T>C (p.Ser637=)	EPHA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1974378	NM_004438.5(EPHA4):c.25C>G (p.Leu9Val)	EPHA4 (L9V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1968230	NM_004438.5(EPHA4):c.1443+15A>T	EPHA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1967422	NM_004438.5(EPHA4):c.1455G>A (p.Glu485=)	EPHA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1956183	NM_004438.5(EPHA4):c.1112C>A (p.Ala371Asp)	EPHA4 (A320D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1951430	NM_004438.5(EPHA4):c.1888+18C>T	EPHA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1949898	NM_004438.5(EPHA4):c.1795C>A (p.Pro599Thr)	EPHA4 (P548T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1949232	NM_004438.5(EPHA4):c.546C>T (p.Tyr182=)	EPHA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1935760	NM_004438.5(EPHA4):c.874A>G (p.Lys292Glu)	EPHA4 (K241E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 3