ClinVar for Gene (Select 2044) - ClinVar

Links from Gene

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3509313	NM_001281766.3(EPHA5):c.1919A>G (p.Gln640Arg)	EPHA5 (Q640R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3509312	NM_001281766.3(EPHA5):c.958G>T (p.Gly320Cys)	EPHA5 (G251C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3509311	NM_001281766.3(EPHA5):c.572G>A (p.Arg191His)	EPHA5 (R191H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3509310	NM_001281766.3(EPHA5):c.1503G>T (p.Glu501Asp)	EPHA5 (E432D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3509309	NM_001281766.3(EPHA5):c.771A>C (p.Glu257Asp)	EPHA5 (E188D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3509308	NM_001281766.3(EPHA5):c.2600T>C (p.Ile867Thr)	EPHA5 (I888T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3509307	NM_001281766.3(EPHA5):c.707T>C (p.Val236Ala)	EPHA5 (V167A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3509306	NM_001281766.3(EPHA5):c.1153G>A (p.Gly385Arg)	EPHA5 (G385R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3509305	NM_001281766.3(EPHA5):c.1235T>C (p.Val412Ala)	EPHA5 (V343A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3509304	NM_001281766.3(EPHA5):c.2210A>C (p.Asn737Thr)	EPHA5 (N758T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3509301	NM_001281766.3(EPHA5):c.1702A>G (p.Ser568Gly)	EPHA5 (S499G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3509300	NM_001281766.3(EPHA5):c.1523A>G (p.Glu508Gly)	EPHA5 (E508G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3509299	NM_001281766.3(EPHA5):c.193G>T (p.Asp65Tyr)	EPHA5 (D65Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3509298	NM_001281766.3(EPHA5):c.1190A>C (p.Lys397Thr)	EPHA5 (K328T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3509297	NM_001281766.3(EPHA5):c.2659T>C (p.Tyr887His)	EPHA5 (Y840H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3509296	NM_001281766.3(EPHA5):c.2036G>C (p.Arg679Thr)	EPHA5 (R632T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275926	NM_001281766.3(EPHA5):c.869T>C (p.Met290Thr)	EPHA5 (M221T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275925	NM_001281766.3(EPHA5):c.1225G>C (p.Gly409Arg)	EPHA5 (G340R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275924	NM_001281766.3(EPHA5):c.5G>T (p.Arg2Leu)	EPHA5 (R2L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275923	NM_001281766.3(EPHA5):c.2003T>C (p.Val668Ala)	EPHA5 (V621A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275922	NM_001281766.3(EPHA5):c.112G>C (p.Ala38Pro)	EPHA5 (A38P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275921	NM_001281766.3(EPHA5):c.173G>T (p.Ser58Ile)	EPHA5 (S58I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275920	NM_001281766.3(EPHA5):c.1196A>G (p.Asn399Ser)	EPHA5 (N330S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275919	NM_001281766.3(EPHA5):c.2756G>A (p.Ser919Asn)	EPHA5 (S941N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089597	NM_001281766.3(EPHA5):c.995C>G (p.Ala332Gly)	EPHA5 (A263G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089596	NM_001281766.3(EPHA5):c.713G>A (p.Arg238Gln)	EPHA5 (R238Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089595	NM_001281766.3(EPHA5):c.515T>A (p.Ile172Asn)	EPHA5 (I172N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089594	NM_001281766.3(EPHA5):c.468T>A (p.Phe156Leu)	EPHA5 (F87L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089593	NM_001281766.3(EPHA5):c.2584A>T (p.Thr862Ser)	EPHA5 (T883S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089592	NM_001281766.3(EPHA5):c.2138C>T (p.Pro713Leu)	EPHA5 (P735L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089591	NM_001281766.3(EPHA5):c.1801G>A (p.Gly601Ser)	EPHA5 (G601S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062753	GRCh37/hg19 4q13.1-13.2(chr4:65646937-68662306)x3	CENPC, EPHA5 +3 more	Copy number gain	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	AADAT, AASDH +537 more	Copy number gain	not provided	GPathogenic
Select item 2685971	GRCh37/hg19 4q13.1(chr4:65890760-66503982)x3	EPHA5	Copy number gain	not provided	GUncertain significance
Select item 2685970	GRCh37/hg19 4q13.1-13.3(chr4:63684557-71480358)x3	AMBN, AMTN +38 more	Copy number gain	not provided	GPathogenic
Select item 2685113	GRCh37/hg19 4q13.1-13.2(chr4:65293814-67567104)x1	EPHA5	Copy number loss	not provided	GUncertain significance
Select item 2685109	GRCh37/hg19 4q12-13.3(chr4:57584845-72430996)x1	ADGRL3, AMBN +52 more	Copy number loss	not provided	GPathogenic
Select item 2624174	NM_001281766.3(EPHA5):c.974A>G (p.His325Arg)	EPHA5 (H256R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619646	NM_001281766.3(EPHA5):c.1944G>T (p.Glu648Asp)	EPHA5 (E669D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614676	NM_001281766.3(EPHA5):c.91T>G (p.Cys31Gly)	EPHA5 (C31G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564520	NM_001281766.3(EPHA5):c.3037A>T (p.Met1013Leu)	EPHA5 (M966L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557527	NM_001281766.3(EPHA5):c.2536G>A (p.Val846Ile)	EPHA5 (V867I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544754	NM_001281766.3(EPHA5):c.2461A>G (p.Ile821Val)	EPHA5 (I774V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514918	NM_001281766.3(EPHA5):c.16C>T (p.Pro6Ser)	EPHA5 (P6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495983	NM_001281766.3(EPHA5):c.2974G>A (p.Val992Ile)	EPHA5 (V991I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493258	NM_001281766.3(EPHA5):c.1851T>A (p.His617Gln)	EPHA5 (H616Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493005	NM_001281766.3(EPHA5):c.1052C>G (p.Thr351Arg)	EPHA5 (T282R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488452	NM_001281766.3(EPHA5):c.1107T>A (p.Asn369Lys)	EPHA5 (N300K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482864	NM_001281766.3(EPHA5):c.1794-9635T>G	EPHA5 (C600G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473931	NM_001281766.3(EPHA5):c.148C>T (p.Leu50Phe)	EPHA5 (L50F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409087	NM_001281766.3(EPHA5):c.1963A>T (p.Thr655Ser)	EPHA5 (T608S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406527	NM_001281766.3(EPHA5):c.2812C>G (p.His938Asp)	EPHA5 (H937D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390157	NM_001281766.3(EPHA5):c.10T>C (p.Ser4Pro)	EPHA5 (S4P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389312	NM_001281766.3(EPHA5):c.1412C>T (p.Pro471Leu)	EPHA5 (P402L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387508	NM_001281766.3(EPHA5):c.2014C>T (p.Arg672Cys)	EPHA5 (R671C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385437	NM_001281766.3(EPHA5):c.958G>A (p.Gly320Ser)	EPHA5 (G251S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2378818	NM_001281766.3(EPHA5):c.100G>A (p.Ala34Thr)	EPHA5 (A34T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342107	NM_001281766.3(EPHA5):c.3034G>A (p.Gly1012Arg)	EPHA5 (G1011R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313039	NM_001281766.3(EPHA5):c.1283T>C (p.Met428Thr)	EPHA5 (M428T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294786	NM_001281766.3(EPHA5):c.1297G>T (p.Ala433Ser)	EPHA5 (A364S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282451	NM_001281766.3(EPHA5):c.1423G>A (p.Val475Met)	EPHA5 (V406M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279792	NM_001281766.3(EPHA5):c.41C>A (p.Pro14His)	EPHA5 (P14H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278005	NM_001281766.3(EPHA5):c.1571C>T (p.Thr524Ile)	EPHA5 (T455I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248675	NM_001281766.3(EPHA5):c.2212G>T (p.Gly738Cys)	EPHA5 (G760C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217372	NM_001281766.3(EPHA5):c.992A>G (p.Glu331Gly)	EPHA5 (E262G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809299	GRCh37/hg19 4q13.1(chr4:65952175-66507443)x3	EPHA5	Copy number gain	not provided	GUncertain significance
Select item 1808115	GRCh37/hg19 4q13.1-13.2(chr4:66215872-68647080)x1	CENPC, EPHA5 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1527090	GRCh37/hg19 4q13.1-13.3(chr4:61867555-74711517)	ADAMTS3, ADGRL3 +58 more	Copy number loss	not specified	GPathogenic
Select item 1340401	GRCh37/hg19 4q13.1(chr4:65824021-66365406)x3	EPHA5	Copy number gain	not provided	GUncertain significance
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	AMBN, AMTN +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 980090	GRCh37/hg19 4q13.1-13.2(chr4:65650283-66813883)x1	EPHA5	Copy number loss	not provided	GUncertain significance
Select item 787803	NM_001281766.3(EPHA5):c.2235+4G>A	EPHA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 787027	NM_001281766.3(EPHA5):c.537C>T (p.Ala179=)	EPHA5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780462	NM_001281766.3(EPHA5):c.1582G>C (p.Glu528Gln)	EPHA5 (E459Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 737306	NM_001281766.3(EPHA5):c.1954T>A (p.Ser652Thr)	EPHA5 (S652T +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 718434	NM_001281766.3(EPHA5):c.2173+8T>A	EPHA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 716817	NM_001281766.3(EPHA5):c.1938T>C (p.Ala646=)	EPHA5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 635941	Single allele	TMPRSS11D, CENPC +6 more	Deletion	Neurodevelopmental disorder	GLikely pathogenic
Select item 562922	GRCh37/hg19 4q13.1-13.2(chr4:65395609-69170853)x1	UBA6, TMPRSS11B +7 more	Copy number loss	not provided	GUncertain significance
Select item 562920	GRCh37/hg19 4q13.1-13.3(chr4:64705501-73469716)x3	ADAMTS3, AMBN +49 more	Copy number gain	not provided	GPathogenic
Select item 523281	GRCh37/hg19 4q13.1(chr4:65991029-66411150)	EPHA5	Copy number loss	Global developmental delay	GUncertain significance
Select item 503605	NM_001281766.3(EPHA5):c.1043A>G (p.Asp348Gly)	EPHA5 (D348G +1 more)	Single nucleotide variant (missense variant)	Astrocytoma	GUncertain significance
Select item 443595	GRCh37/hg19 4q13.1(chr4:64717781-66524890)x1	EPHA5, TECRL	Copy number loss	See cases	GLikely benign
Select item 443262	GRCh37/hg19 4q13.1-21.1(chr4:66017575-76772947)x1	ADAMTS3, AFM +75 more	Copy number loss	See cases	GPathogenic
Select item 442568	GRCh37/hg19 4q13.1-13.2(chr4:65999842-67635149)x1	EPHA5	Copy number loss	See cases	GUncertain significance
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 152862	GRCh38/hg38 4q13.1-13.2(chr4:63868950-65648341)x1	EPHA5, LINC02232 +3 more	Copy number loss	See cases	GUncertain significance
Select item 59451	GRCh38/hg38 4q13.1-13.3(chr4:65454562-72313693)x1	LOC129992665, LOC129992666 +103 more	Copy number loss	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 58028	GRCh38/hg38 4q12-13.2(chr4:51831622-66991489)x3	AASDH, ADGRL3 +177 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 94