EPHA4[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 228

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	LOC129935413, LOC129935414 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	ABCA12, ABCB6 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC126806461, LOC126806467 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	OR6B3, OTOS +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	AAMP, ABCB6 +986 more	Copy number gain	See cases	GPathogenic
Select item 58844	GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1	ABCB6, ACSL3 +195 more	Copy number loss	See cases	GPathogenic
Select item 59166	GRCh38/hg38 2q36.1(chr2:220837832-221627616)x3	EPHA4, LOC121725115 +7 more	Copy number gain	See cases	GPathogenic
Select item 151408	GRCh38/hg38 2q36.1(chr2:221387619-221599343)x1	EPHA4, LOC121725116 +4 more	Copy number loss	See cases	GLikely benign
Select item 146554	GRCh38/hg38 2q36.1(chr2:221387619-221947046)x1	EPHA4, LOC121725116 +6 more	Copy number loss	See cases	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 1353594	NM_004438.5(EPHA4):c.2956G>A (p.Val986Ile)	EPHA4, LOC126806527 (V986I +1 more)	Single nucleotide variant (missense variant +1 more)	EPHA4-related condition +1 more	GConflicting classifications of pathogenicity
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 2306567	NM_004438.5(EPHA4):c.2942G>T (p.Gly981Val)	EPHA4, LOC126806527 (G930V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1466206	NM_004438.5(EPHA4):c.2921C>T (p.Thr974Ile)	EPHA4, LOC126806527 (T923I +1 more)	Single nucleotide variant (missense variant +1 more)	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 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 788090	NM_004438.5(EPHA4):c.2892G>A (p.Lys964=)	EPHA4, LOC126806527	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1167926	NM_004438.5(EPHA4):c.2880G>A (p.Thr960=)	EPHA4, LOC126806527	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 1522358	NM_004438.5(EPHA4):c.2858G>C (p.Arg953Thr)	EPHA4, LOC126806527 (R953T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2770354	NM_004438.5(EPHA4):c.2847-8A>G	EPHA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1645204	NM_004438.5(EPHA4):c.2847-13G>A	EPHA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1922209	NM_004438.5(EPHA4):c.2847-14C>T	EPHA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1373345	NM_004438.5(EPHA4):c.2836G>A (p.Val946Met)	EPHA4 (V946M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2979891	NM_004438.5(EPHA4):c.2835C>T (p.His945=)	EPHA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1466102	NM_004438.5(EPHA4):c.2835C>A (p.His945Gln)	EPHA4 (H945Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1383608	NM_004438.5(EPHA4):c.2783A>G (p.Tyr928Cys)	EPHA4 (Y877C +1 more)	Single nucleotide variant (missense variant)	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)	Inborn genetic diseases	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 1524087	NM_004438.5(EPHA4):c.2733del (p.Ala912fs)	EPHA4 (A861fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2210268	NM_004438.5(EPHA4):c.2713C>A (p.Pro905Thr)	EPHA4 (P854T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 783360	NM_004438.5(EPHA4):c.2697C>G (p.Asn899Lys)	EPHA4 (N848K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1633132	NM_004438.5(EPHA4):c.2690+18A>G	EPHA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1923175	NM_004438.5(EPHA4):c.2690+10G>A	EPHA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2550272	NM_004438.5(EPHA4):c.2684G>C (p.Ser895Thr)	EPHA4 (S895T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1532309	NM_004438.5(EPHA4):c.2679G>A (p.Thr893=)	EPHA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1353541	NM_004438.5(EPHA4):c.2678C>T (p.Thr893Met)	EPHA4 (T893M +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 1915392	NM_004438.5(EPHA4):c.2576A>G (p.Asp859Gly)	EPHA4 (D808G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1922107	NM_004438.5(EPHA4):c.2556G>C (p.Ala852=)	EPHA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1445973	NM_004438.5(EPHA4):c.2555C>T (p.Ala852Val)	EPHA4 (A852V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 1489578	NM_004438.5(EPHA4):c.2533C>G (p.Pro845Ala)	EPHA4 (P794A +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)	Inborn genetic diseases	GUncertain significance
Select item 1663203	NM_004438.5(EPHA4):c.2511T>C (p.Ile837=)	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 2715544	NM_004438.5(EPHA4):c.2457G>A (p.Ser819=)	EPHA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2210940	NM_004438.5(EPHA4):c.2396G>A (p.Arg799His)	EPHA4 (R748H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 791894	NM_004438.5(EPHA4):c.2376G>A (p.Ala792=)	EPHA4	Single nucleotide variant (synonymous variant)	EPHA4-related condition +1 more	GBenign/Likely benign
Select item 760494	NM_004438.5(EPHA4):c.2376G>C (p.Ala792=)	EPHA4	Single nucleotide variant (synonymous 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 1920116	NM_004438.5(EPHA4):c.2366G>A (p.Arg789Gln)	EPHA4 (R789Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1598867	NM_004438.5(EPHA4):c.2347-13C>T	EPHA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1167427	NM_004438.5(EPHA4):c.2346+20T>A	EPHA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1603078	NM_004438.5(EPHA4):c.2346+13G>C	EPHA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1653979	NM_004438.5(EPHA4):c.2346+12C>T	EPHA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1566429	NM_004438.5(EPHA4):c.2340C>T (p.Thr780=)	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 2862696	NM_004438.5(EPHA4):c.2304C>T (p.Ser768=)	EPHA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1565404	NM_004438.5(EPHA4):c.2286G>A (p.Val762=)	EPHA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2385244	NM_004438.5(EPHA4):c.2245G>A (p.Ala749Thr)	EPHA4 (A749T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 431727	NM_004438.5(EPHA4):c.2242G>A (p.Ala748Thr)	EPHA4 (A748T +1 more)	Single nucleotide variant (missense variant)	atypical cerebral palsy	GLikely pathogenic
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 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 1358914	NM_004438.5(EPHA4):c.2200A>G (p.Met734Val)	EPHA4 (M683V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 1644121	NM_004438.5(EPHA4):c.2137-5T>C	EPHA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1641455	NM_004438.5(EPHA4):c.2137-17A>G	EPHA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1635660	NM_004438.5(EPHA4):c.2136+20T>G	EPHA4	Single nucleotide variant (intron 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 2541135	NM_004438.5(EPHA4):c.2083G>C (p.Val695Leu)	EPHA4 (V695L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1653649	NM_004438.5(EPHA4):c.2074+16C>G	EPHA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1165039	NM_004438.5(EPHA4):c.2074+15C>A	EPHA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2970487	NM_004438.5(EPHA4):c.2074+11_2074+12insT	EPHA4	Insertion (intron variant)	not provided	GLikely benign
Select item 1447768	NM_004438.5(EPHA4):c.2074+4C>T	EPHA4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1435436	NM_004438.5(EPHA4):c.2051A>G (p.His684Arg)	EPHA4 (H633R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1919990	NM_004438.5(EPHA4):c.2046C>T (p.Ile682=)	EPHA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1606910	NM_004438.5(EPHA4):c.2040G>A (p.Pro680=)	EPHA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2539842	NM_004438.5(EPHA4):c.1946G>A (p.Cys649Tyr)	EPHA4 (C649Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1445823	NM_004438.5(EPHA4):c.1916G>A (p.Arg639His)	EPHA4 (R588H +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 1982058	NM_004438.5(EPHA4):c.1911T>C (p.Ser637=)	EPHA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2849866	NM_004438.5(EPHA4):c.1889-5C>T	EPHA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1951430	NM_004438.5(EPHA4):c.1888+18C>T	EPHA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1669988	NM_004438.5(EPHA4):c.1888+16T>G	EPHA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1170394	NM_004438.5(EPHA4):c.1875A>G (p.Lys625=)	EPHA4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1576043	NM_004438.5(EPHA4):c.1866G>A (p.Lys622=)	EPHA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2051018	NM_004438.5(EPHA4):c.1806C>T (p.Tyr602=)	EPHA4	Single nucleotide variant (synonymous 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 2906028	NM_004438.5(EPHA4):c.1775-3C>T	EPHA4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1664259	NM_004438.5(EPHA4):c.1775-16_1775-14del	EPHA4	Deletion (intron 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 1427806	NM_004438.5(EPHA4):c.1717C>T (p.Arg573Trp)	EPHA4 (R573W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

<< First< Prev

Page of 3