"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "EPHA2"[ - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 293405	NM_004431.5(EPHA2):c.2919G>A (p.Gly973=)	EPHA2	Single nucleotide variant (synonymous variant)	Cataract 6 multiple types +1 more	GBenign
Select item 849920	NM_004431.5(EPHA2):c.2915_2916del (p.Val972fs)	EPHA2 (V972fs +1 more)	Microsatellite (frameshift variant)	Cataract 6 multiple types	GPathogenic
Select item 293406	NM_004431.5(EPHA2):c.2904G>C (p.Gln968His)	EPHA2 (Q968H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2050855	NM_004431.5(EPHA2):c.2826-35_2890del	EPHA2	Deletion (splice acceptor variant)	Cataract 6 multiple types	GUncertain significance
Select item 293408	NM_004431.5(EPHA2):c.2875G>A (p.Ala959Thr)	EPHA2 (A959T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 259392	NM_004431.5(EPHA2):c.2874C>T (p.Ile958=)	EPHA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 1441585	NM_004431.5(EPHA2):c.2826C>T (p.Asp942=)	EPHA2	Single nucleotide variant (synonymous variant)	Cataract 6 multiple types +1 more	GConflicting classifications of pathogenicity
Select item 280146	NM_004431.5(EPHA2):c.2826-9G>A	EPHA2	Single nucleotide variant (intron variant)	Cataract 6 multiple types +2 more	GPathogenic
Select item 1442086	NM_004431.5(EPHA2):c.2743T>C (p.Ser915Pro)	EPHA2 (S915P +1 more)	Single nucleotide variant (missense variant)	Cataract 6 multiple types	GUncertain significance
Select item 648046	NM_004431.5(EPHA2):c.2736G>T (p.Trp912Cys)	EPHA2 (W912C +1 more)	Single nucleotide variant (missense variant)	Cataract 6 multiple types	GUncertain significance
Select item 873860	NM_004431.5(EPHA2):c.2730C>T (p.Ser910=)	EPHA2	Single nucleotide variant (synonymous variant)	Cataract 6 multiple types	GBenign
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 1592812	NM_004431.5(EPHA2):c.2682G>A (p.Arg894=)	EPHA2	Single nucleotide variant (synonymous variant)	Cataract 6 multiple types	GLikely benign
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 259391	NM_004431.5(EPHA2):c.2627G>A (p.Arg876His)	EPHA2 (R876H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1143210	NM_004431.5(EPHA2):c.2579G>A (p.Arg860His)	EPHA2 (R806H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 293409	NM_004431.5(EPHA2):c.2514A>G (p.Thr838=)	EPHA2	Single nucleotide variant (synonymous variant)	Cataract 6 multiple types +1 more	GBenign
Select item 1572075	NM_004431.5(EPHA2):c.2472C>T (p.His824=)	EPHA2	Single nucleotide variant (synonymous variant)	Cataract 6 multiple types	GLikely benign
Select item 293410	NM_004431.5(EPHA2):c.2463G>A (p.Leu821=)	EPHA2	Single nucleotide variant (synonymous variant)	Cataract 6 multiple types	GBenign
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 1477390	NM_004431.5(EPHA2):c.2374C>T (p.Arg792Trp)	EPHA2 (R738W +1 more)	Single nucleotide variant (missense variant)	Cataract 6 multiple types	GUncertain significance
Select item 293411	NM_004431.5(EPHA2):c.2374C>A (p.Arg792=)	EPHA2	Single nucleotide variant (synonymous variant)	Cataract 6 multiple types +1 more	GBenign/Likely benign
Select item 259390	NM_004431.5(EPHA2):c.2352C>T (p.Thr784=)	EPHA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1449739	NM_004431.5(EPHA2):c.2329G>A (p.Gly777Ser)	EPHA2 (G723S +1 more)	Single nucleotide variant (missense variant)	Cataract 6 multiple types	GUncertain significance
Select item 1096395	NM_004431.5(EPHA2):c.2326-4G>A	EPHA2	Single nucleotide variant (intron variant)	Cataract 6 multiple types	GLikely benign
Select item 293412	NM_004431.5(EPHA2):c.2239G>A (p.Val747Ile)	EPHA2 (V747I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 703074	NM_004431.5(EPHA2):c.2238C>T (p.Leu746=)	EPHA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1130034	NM_004431.5(EPHA2):c.2235C>T (p.Ile745=)	EPHA2	Single nucleotide variant (synonymous variant)	Cataract 6 multiple types	GLikely benign
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 1037565	NM_004431.5(EPHA2):c.2174C>G (p.Ala725Gly)	EPHA2 (A671G +1 more)	Single nucleotide variant (missense variant)	Cataract 6 multiple types	GUncertain significance
Select item 713431	NM_004431.5(EPHA2):c.2169C>T (p.Ile723=)	EPHA2	Single nucleotide variant (synonymous variant)	Cataract 6 multiple types	GLikely benign
Select item 13262	NM_004431.5(EPHA2):c.2162G>A (p.Arg721Gln)	EPHA2 (R721Q +1 more)	Single nucleotide variant (missense variant)	Cataract 6 multiple types +1 more	GConflicting classifications of pathogenicity
Select item 293413	NM_004431.5(EPHA2):c.2116-6C>T	EPHA2	Single nucleotide variant (intron variant)	Cataract 6 multiple types	GLikely benign
Select item 468224	NM_004431.5(EPHA2):c.2116-9C>T	EPHA2	Single nucleotide variant (intron variant)	Cataract 6 multiple types	GLikely benign
Select item 703227	NM_004431.5(EPHA2):c.2100G>A (p.Leu700=)	EPHA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 293414	NM_004431.5(EPHA2):c.2097C>T (p.Ala699=)	EPHA2	Single nucleotide variant (synonymous variant)	Cataract 6 multiple types	GBenign
Select item 293415	NM_004431.5(EPHA2):c.2034A>G (p.Leu678=)	EPHA2	Single nucleotide variant (synonymous variant)	Cataract 6 multiple types +1 more	GBenign
Select item 658421	NM_004431.5(EPHA2):c.2029C>T (p.Arg677Cys)	EPHA2 (R677C +1 more)	Single nucleotide variant (missense variant)	Cataract 6 multiple types +1 more	GUncertain significance
Select item 293416	NM_004431.5(EPHA2):c.1984G>A (p.Gly662Ser)	EPHA2 (G662S +1 more)	Single nucleotide variant (missense variant)	Cataract 6 multiple types	GConflicting classifications of pathogenicity
Select item 259389	NM_004431.5(EPHA2):c.1983C>T (p.Leu661=)	EPHA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 1565325	NM_004431.5(EPHA2):c.1950C>T (p.Ala650=)	EPHA2	Single nucleotide variant (synonymous variant)	Cataract 6 multiple types	GLikely benign
Select item 293418	NM_004431.5(EPHA2):c.1941G>T (p.Thr647=)	EPHA2	Single nucleotide variant (synonymous variant)	Cataract 6 multiple types +1 more	GBenign
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 293419	NM_004431.5(EPHA2):c.1896G>A (p.Leu632=)	EPHA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 293420	NM_004431.5(EPHA2):c.1892T>C (p.Met631Thr)	EPHA2 (M631T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 293422	NM_004431.5(EPHA2):c.1864+12C>T	EPHA2	Single nucleotide variant (intron variant)	Cataract 6 multiple types	GBenign
Select item 293423	NM_004431.5(EPHA2):c.1843C>T (p.Arg615Trp)	EPHA2 (R615W +1 more)	Single nucleotide variant (missense variant)	Cataract 6 multiple types	GUncertain significance
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 1915928	NM_004431.5(EPHA2):c.1743A>G (p.Gln581=)	EPHA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 259388	NM_004431.5(EPHA2):c.1738+16C>T	EPHA2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1627583	NM_004431.5(EPHA2):c.1734G>A (p.Lys578=)	EPHA2	Single nucleotide variant (synonymous variant)	Cataract 6 multiple types	GLikely benign
Select item 293424	NM_004431.5(EPHA2):c.1720G>A (p.Val574Ile)	EPHA2 (V574I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 876744	NM_004431.5(EPHA2):c.1697G>A (p.Arg566His)	EPHA2 (R566H +1 more)	Single nucleotide variant (missense variant)	Cataract 6 multiple types +1 more	GUncertain significance
Select item 643721	NC_000001.10:g.(?_16460943)_(16482447_?)dup	EPHA2, EPHA2-AS1	Duplication	Cataract 6 multiple types	GUncertain significance
Select item 703252	NM_004431.5(EPHA2):c.1682G>A (p.Arg561Lys)	EPHA2 (R507K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 750548	NM_004431.5(EPHA2):c.1665C>T (p.Gly555=)	EPHA2	Single nucleotide variant (synonymous variant)	Cataract 6 multiple types	GBenign
Select item 293426	NM_004431.5(EPHA2):c.1621G>A (p.Val541Met)	EPHA2 (V541M +1 more)	Single nucleotide variant (missense variant)	Cataract 6 multiple types +1 more	GBenign/Likely 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 647226	NM_004431.5(EPHA2):c.1582+1G>A	EPHA2	Single nucleotide variant (splice donor variant)	Cataract 6 multiple types	GLikely pathogenic
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 293430	NM_004431.5(EPHA2):c.1532C>T (p.Thr511Met)	EPHA2 (T511M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 293431	NM_004431.5(EPHA2):c.1512G>T (p.Leu504=)	EPHA2	Single nucleotide variant (synonymous variant)	Cataract 6 multiple types +1 more	GBenign
Select item 536124	NM_004431.5(EPHA2):c.1500C>T (p.Asp500=)	EPHA2	Single nucleotide variant (synonymous variant)	Cataract 6 multiple types	GLikely benign
Select item 702170	NM_004431.5(EPHA2):c.1486G>A (p.Asp496Asn)	EPHA2 (D496N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1164259	NM_004431.5(EPHA2):c.1479C>T (p.Thr493=)	EPHA2	Single nucleotide variant (synonymous variant)	Cataract 6 multiple types	GBenign
Select item 1592945	NM_004431.5(EPHA2):c.1466G>T (p.Gly489Val)	EPHA2 (G435V +1 more)	Single nucleotide variant (missense 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 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
Select item 1166109	NM_004431.5(EPHA2):c.1429-4A>G	EPHA2	Single nucleotide variant (intron variant)	Cataract 6 multiple types	GBenign
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 1979709	NM_004431.5(EPHA2):c.1428+16G>A	EPHA2	Single nucleotide variant (intron variant)	Cataract 6 multiple types	GBenign
Select item 536127	NM_004431.5(EPHA2):c.1407C>T (p.Tyr469=)	EPHA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 293433	NM_004431.5(EPHA2):c.1359C>T (p.Ser453=)	EPHA2	Single nucleotide variant (synonymous variant)	Cataract 6 multiple types +1 more	GBenign
Select item 259387	NM_004431.5(EPHA2):c.1314G>A (p.Glu438=)	EPHA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1572492	NM_004431.5(EPHA2):c.1313-20C>T	EPHA2	Single nucleotide variant (intron variant)	Cataract 6 multiple types	GBenign
Select item 468223	NM_004431.5(EPHA2):c.1312+10del	EPHA2	Deletion (intron variant)	Cataract 6 multiple types	GLikely benign
Select item 955156	NM_004431.5(EPHA2):c.1283G>A (p.Arg428His)	EPHA2 (R374H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 536125	NM_004431.5(EPHA2):c.1210C>G (p.Pro404Ala)	EPHA2 (P404A +1 more)	Single nucleotide variant (missense variant)	Cataract 6 multiple types	GLikely benign
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 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 259386	NM_004431.5(EPHA2):c.1171G>A (p.Gly391Arg)	EPHA2 (G391R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 293436	NM_004431.5(EPHA2):c.1170C>T (p.His390=)	EPHA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 468222	NM_004431.5(EPHA2):c.1118C>T (p.Ser373Phe)	EPHA2 (S373F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 536126	NM_004431.5(EPHA2):c.1072G>A (p.Glu358Lys)	EPHA2 (E358K +1 more)	Single nucleotide variant (missense variant)	Cataract 6 multiple types	GLikely benign
Select item 951184	NM_004431.5(EPHA2):c.1067G>A (p.Gly356Asp)	EPHA2 (G302D +1 more)	Single nucleotide variant (missense variant)	Cataract 6 multiple types	GUncertain significance
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 1383697	NM_004431.5(EPHA2):c.1062C>T (p.Ser354=)	EPHA2	Single nucleotide variant (synonymous variant)	Cataract 6 multiple types	GLikely benign
Select item 293437	NM_004431.5(EPHA2):c.1048C>A (p.Pro350Thr)	EPHA2 (P350T +1 more)	Single nucleotide variant (missense variant)	Cataract 6 multiple types +1 more	GBenign
Select item 875794	NM_004431.5(EPHA2):c.1046C>T (p.Thr349Met)	EPHA2 (T349M +1 more)	Single nucleotide variant (missense variant)	Cataract 6 multiple types +1 more	GConflicting classifications of pathogenicity
Select item 581585	NM_004431.5(EPHA2):c.1040G>A (p.Arg347His)	EPHA2 (R347H +1 more)	Single nucleotide variant (missense variant)	Cataract 6 multiple types	GUncertain significance
Select item 2066016	NM_004431.5(EPHA2):c.988dup (p.Ser330fs)	EPHA2 (S276fs +1 more)	Duplication (frameshift variant)	Cataract 6 multiple types	GPathogenic
Select item 259398	NM_004431.5(EPHA2):c.987C>T (p.Pro329=)	EPHA2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 293439	NM_004431.5(EPHA2):c.944G>A (p.Arg315Gln)	EPHA2 (R315Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1420625	NM_004431.5(EPHA2):c.924G>C (p.Glu308Asp)	EPHA2 (E254D +1 more)	Single nucleotide variant (missense variant)	Cataract 6 multiple types	GUncertain significance
Select item 860395	NM_004431.5(EPHA2):c.890C>T (p.Thr297Met)	EPHA2 (T243M +1 more)	Single nucleotide variant (missense variant)	Cataract 6 multiple types	GUncertain significance
Select item 1473860	NM_004431.5(EPHA2):c.844A>G (p.Lys282Glu)	EPHA2 (K228E +1 more)	Single nucleotide variant (missense variant)	Cataract 6 multiple types	GUncertain significance
Select item 293440	NM_004431.5(EPHA2):c.830C>T (p.Ser277Leu)	EPHA2 (S277L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign

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