"GeneDx"[submitter] AND "EPHA2"[gene] - ClinVar

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

Search results

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 58056	GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3	LOC129929515, LOC129929516 +211 more	Copy number gain	See cases	GPathogenic
Select item 293400	NM_004431.5(EPHA2):c.*297G>A	EPHA2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 293404	NM_004431.5(EPHA2):c.*166G>A	EPHA2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
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 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 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 280146	NM_004431.5(EPHA2):c.2826-9G>A	EPHA2	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic
Select item 1270852	NM_004431.5(EPHA2):c.2826-61C>T	EPHA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188013	NM_004431.5(EPHA2):c.2826-135G>A	EPHA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201892	NM_004431.5(EPHA2):c.2826-242C>T	EPHA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190665	NM_004431.5(EPHA2):c.2825+248C>A	EPHA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263721	NM_004431.5(EPHA2):c.2825+110T>C	EPHA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207163	NM_004431.5(EPHA2):c.2825+72C>T	EPHA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1329522	NM_004431.5(EPHA2):c.2731G>A (p.Glu911Lys)	EPHA2 (E857K +1 more)	Single nucleotide variant (missense variant)	not provided	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 1186499	NM_004431.5(EPHA2):c.2670-71G>A	EPHA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183796	NM_004431.5(EPHA2):c.2670-92C>T	EPHA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220247	NM_004431.5(EPHA2):c.2669+76C>T	EPHA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1321764	NM_004431.5(EPHA2):c.2662G>A (p.Asp888Asn)	EPHA2 (D834N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1246823	NM_004431.5(EPHA2):c.2476-117C>T	EPHA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277639	NM_004431.5(EPHA2):c.2476-224dup	EPHA2	Duplication (intron variant)	not provided	GBenign
Select item 1214958	NM_004431.5(EPHA2):c.2476-286G>A	EPHA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258917	NM_004431.5(EPHA2):c.2475+128dup	EPHA2	Duplication (intron variant)	not provided	GBenign
Select item 1276537	NM_004431.5(EPHA2):c.2475+127A>T	EPHA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277516	NM_004431.5(EPHA2):c.2475+29T>C	EPHA2	Single nucleotide variant (intron variant)	not provided	GBenign
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 293412	NM_004431.5(EPHA2):c.2239G>A (p.Val747Ile)	EPHA2 (V747I +1 more)	Single nucleotide variant (missense variant)	Cataract 6 multiple types +1 more	GConflicting classifications of pathogenicity
Select item 1302075	NM_004431.5(EPHA2):c.2149G>A (p.Val717Met)	EPHA2 (V663M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1697057	NM_004431.5(EPHA2):c.2116-5G>A	EPHA2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1262364	NM_004431.5(EPHA2):c.2116-46G>A	EPHA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237044	NM_004431.5(EPHA2):c.2115+25G>A	EPHA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1302673	NM_004431.5(EPHA2):c.2113C>T (p.Arg705Trp)	EPHA2 (R651W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1286377	NM_004431.5(EPHA2):c.2053+168A>T	EPHA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250888	NM_004431.5(EPHA2):c.2053+38G>A	EPHA2	Single nucleotide variant (intron variant)	not provided	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 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 1306358	NM_004431.5(EPHA2):c.2020A>C (p.Asn674His)	EPHA2 (N620H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 293418	NM_004431.5(EPHA2):c.1941G>T (p.Thr647=)	EPHA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 432940	NM_004431.5(EPHA2):c.1907C>T (p.Ser636Leu)	EPHA2 (S636L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 293419	NM_004431.5(EPHA2):c.1896G>A (p.Leu632=)	EPHA2	Single nucleotide variant (synonymous variant)	Cataract 6 multiple types +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 1915928	NM_004431.5(EPHA2):c.1743A>G (p.Gln581=)	EPHA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 1179605	NM_004431.5(EPHA2):c.1739-111C>T	EPHA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 259388	NM_004431.5(EPHA2):c.1738+16C>T	EPHA2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 293424	NM_004431.5(EPHA2):c.1720G>A (p.Val574Ile)	EPHA2 (V574I +1 more)	Single nucleotide variant (missense variant)	Cataract 6 multiple types +1 more	GConflicting classifications of pathogenicity
Select item 1246605	NM_004431.5(EPHA2):c.1683-131A>G	EPHA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193725	NM_004431.5(EPHA2):c.1683-202C>T	EPHA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221319	NM_004431.5(EPHA2):c.1682+267C>T	EPHA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251330	NM_004431.5(EPHA2):c.1682+217_1682+219del	EPHA2	Microsatellite (intron variant)	not provided	GBenign
Select item 1238996	NM_004431.5(EPHA2):c.1682+123C>T	EPHA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1800688	NM_004431.5(EPHA2):c.1648G>C (p.Val550Leu)	EPHA2 (V496L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1183159	NM_004431.5(EPHA2):c.1583-59C>T	EPHA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262576	NM_004431.5(EPHA2):c.1583-158C>A	EPHA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195230	NM_004431.5(EPHA2):c.1582+195G>A	EPHA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1216955	NM_004431.5(EPHA2):c.1567G>A (p.Glu523Lys)	EPHA2 (E469K +1 more)	Single nucleotide variant (missense variant)	not provided	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 1250222	NM_004431.5(EPHA2):c.1429-149G>A	EPHA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235224	NM_004431.5(EPHA2):c.1428+150C>T	EPHA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178022	NM_004431.5(EPHA2):c.1312+208T>C	EPHA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261607	NM_004431.5(EPHA2):c.1312+88A>G	EPHA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259386	NM_004431.5(EPHA2):c.1171G>A (p.Gly391Arg)	EPHA2 (G391R +1 more)	Single nucleotide variant (missense variant)	Cataract 6 multiple types +2 more	GBenign
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 293440	NM_004431.5(EPHA2):c.830C>T (p.Ser277Leu)	EPHA2 (S277L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 259396	NM_004431.5(EPHA2):c.824-11G>A	EPHA2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1281636	NM_004431.5(EPHA2):c.823+172C>T	EPHA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177896	NM_004431.5(EPHA2):c.823+33del	EPHA2	Deletion (intron variant)	not provided	GBenign
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 259395	NM_004431.5(EPHA2):c.648C>T (p.Ala216=)	EPHA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 259394	NM_004431.5(EPHA2):c.573G>A (p.Leu191=)	EPHA2	Single nucleotide variant (synonymous variant)	Cataract 6 multiple types +2 more	GBenign
Select item 259393	NM_004431.5(EPHA2):c.570G>A (p.Ala190=)	EPHA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 697437	NM_004431.5(EPHA2):c.493G>A (p.Val165Met)	EPHA2 (V111M +1 more)	Single nucleotide variant (missense variant)	Cataract 6 multiple types +1 more	GBenign/Likely benign
Select item 1169468	NM_004431.5(EPHA2):c.489G>A (p.Leu163=)	EPHA2	Single nucleotide variant (synonymous variant)	Cataract 6 multiple types +1 more	GBenign/Likely benign
Select item 452716	NM_004431.5(EPHA2):c.442G>A (p.Asp148Asn)	EPHA2 (D148N +1 more)	Single nucleotide variant (missense variant)	Cataract 6 multiple types +1 more	GUncertain significance
Select item 1314033	NM_004431.5(EPHA2):c.187C>A (p.Pro63Thr)	EPHA2 (P63T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1190726	NM_004431.5(EPHA2):c.154-138G>A	EPHA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179839	NM_004431.5(EPHA2):c.154-271C>G	EPHA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219259	NM_004431.5(EPHA2):c.153+128C>T	EPHA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192073	NM_004431.5(EPHA2):c.153+86G>A	EPHA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216566	NM_004431.5(EPHA2):c.85+173G>C	EPHA2, EPHA2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 91