ClinVar for Gene (Select 26610) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3347720	NM_019040.5(ELP4):c.536G>T (p.Arg179Ile)	ELP4 (R179I +1 more)	Single nucleotide variant (missense variant)	ELP4-related disorder	GUncertain significance
Select item 3345697	NM_019040.5(ELP4):c.744dup (p.Gln249fs)	ELP4 (Q249fs +1 more)	Duplication (frameshift variant)	ELP4-related disorder	GUncertain significance
Select item 3275250	NM_019040.5(ELP4):c.955A>G (p.Thr319Ala)	ELP4, PAX6DRR (T319A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275249	NM_019040.5(ELP4):c.802G>T (p.Asp268Tyr)	ELP4 (D268Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244792	NC_000011.9:g.(?_31349644)_(31832375_?)del	DCDC1, DNAJC24 +3 more	Deletion	not provided	GUncertain significance
Select item 3244583	NC_000011.9:g.(?_31616297)_(31832375_?)dup	ELP4, PAX6	Duplication	Aniridia 1 +1 more	GUncertain significance
Select item 3088524	NM_019040.5(ELP4):c.92G>T (p.Arg31Met)	ELP4 (R31M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088523	NM_019040.5(ELP4):c.865C>T (p.Arg289Cys)	ELP4 (R289C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088522	NM_019040.5(ELP4):c.628T>C (p.Ser210Pro)	ELP4 (S211P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088521	NM_019040.5(ELP4):c.517G>A (p.Gly173Arg)	ELP4 (G174R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088520	NM_019040.5(ELP4):c.436G>T (p.Val146Leu)	ELP4 (V146L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088519	NM_019040.5(ELP4):c.31G>A (p.Ala11Thr)	ELP4 (A11T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3088518	NM_019040.5(ELP4):c.245C>G (p.Thr82Arg)	ELP4 (T82R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088517	NM_019040.5(ELP4):c.1213G>A (p.Ala405Thr)	ELP4 (A405T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3063227	GRCh37/hg19 11p13(chr11:31714871-31804752)x1	ELP4	Copy number loss	not specified	GUncertain significance
Select item 3063225	GRCh37/hg19 11p13(chr11:31158395-31677662)x1	DCDC1, DNAJC24 +2 more	Copy number loss	not specified	GPathogenic
Select item 3063209	GRCh37/hg19 11p13(chr11:31416012-31802761)x1	DNAJC24, ELP4 +1 more	Copy number loss	not specified	GUncertain significance
Select item 3063206	GRCh37/hg19 11p13(chr11:31723662-31986580)x3	ELP4, PAX6	Copy number gain	not specified	GUncertain significance
Select item 3063204	GRCh37/hg19 11p13(chr11:31001762-31555701)x1	DCDC1, DNAJC24 +2 more	Copy number loss	not specified	GUncertain significance
Select item 3063201	GRCh37/hg19 11p13(chr11:31695618-31724512)x3	ELP4	Copy number gain	not specified	GUncertain significance
Select item 3063200	GRCh37/hg19 11p13(chr11:31574358-31653212)x1	ELP4	Copy number loss	not specified	GUncertain significance
Select item 3062147	NM_001368894.2(PAX6):c.1253del (p.Pro418fs)	ELP4, PAX6 (P203fs +13 more)	Deletion (3 prime UTR variant +2 more)	Aniridia 1	Gnot provided
Select item 3039471	NM_019040.5(ELP4):c.237C>T (p.Ala79=)	ELP4	Single nucleotide variant (synonymous variant)	ELP4-related disorder	GLikely benign
Select item 3029785	NM_019040.5(ELP4):c.165G>T (p.Ser55=)	ELP4	Single nucleotide variant (synonymous variant)	ELP4-related disorder	GLikely benign
Select item 3002115	NM_019040.5(ELP4):c.927+17A>G	ELP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2985438	NM_019040.5(ELP4):c.541G>A (p.Gly181Ser)	ELP4 (G181S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2946495	NM_001368894.2(PAX6):c.1226-7C>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant +1 more)	Aniridia 1 +1 more	GLikely benign
Select item 2901384	NM_019040.5(ELP4):c.127G>T (p.Gly43Cys)	ELP4 (G43C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2887867	NM_019040.5(ELP4):c.63C>G (p.Ala21=)	ELP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2852057	NM_019040.5(ELP4):c.882C>T (p.Thr294=)	ELP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2851004	NM_019040.5(ELP4):c.223+12G>A	ELP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2845846	NM_019040.5(ELP4):c.763A>G (p.Ile255Val)	ELP4 (I255V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2801587	NM_019040.5(ELP4):c.606A>T (p.Gly202=)	ELP4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2797726	NM_019040.5(ELP4):c.82A>G (p.Ser28Gly)	ELP4 (S28G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2741494	NM_019040.5(ELP4):c.947G>A (p.Arg316His)	ELP4, PAX6DRR (R316H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2715618	NM_019040.5(ELP4):c.548A>G (p.Tyr183Cys)	ELP4 (Y183C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2712116	NM_019040.5(ELP4):c.494A>C (p.Gln165Pro)	ELP4 (Q165P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2696817	NM_019040.5(ELP4):c.93G>T (p.Arg31Ser)	ELP4 (R31S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685406	GRCh37/hg19 11p13(chr11:31588526-31671439)x1	ELP4	Copy number loss	not provided	GUncertain significance
Select item 2685405	GRCh37/hg19 11p13(chr11:31573590-31724512)x1	ELP4	Copy number loss	not provided	GUncertain significance
Select item 2685404	GRCh37/hg19 11p13(chr11:31501986-31578568)x1	ELP4, IMMP1L	Copy number loss	not provided	GLikely pathogenic
Select item 2685403	GRCh37/hg19 11p13(chr11:31437272-31555701)x1	DNAJC24, ELP4 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2635720	NM_019040.5(ELP4):c.643G>A (p.Val215Ile)	ELP4 (V215I +1 more)	Single nucleotide variant (missense variant)	ELP4-related disorder	GUncertain significance
Select item 2631178	NM_019040.5(ELP4):c.1176A>G (p.Thr392=)	ELP4 (Q535R +1 more)	Single nucleotide variant (missense variant +1 more)	ELP4-related disorder	GUncertain significance
Select item 2582899	GRCh37/hg19 11p13(chr11:31260027-31639671)x1	DCDC1, DNAJC24 +2 more	Copy number loss	not provided	GUncertain significance
Select item 2550115	NM_019040.5(ELP4):c.1064G>A (p.Arg355Gln)	ELP4, PAX6DRR (R356Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517420	NM_019040.5(ELP4):c.488G>A (p.Arg163His)	ELP4 (R163H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2510437	NM_019040.5(ELP4):c.766G>A (p.Gly256Arg)	ELP4 (G256R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443076	NM_001368894.2(PAX6):c.1277_1284dup (p.Ser429fs)	ELP4, PAX6 (S214fs +8 more)	Duplication (3 prime UTR variant +4 more)	Aniridia 1	GPathogenic
Select item 2429806	NM_019040.5(ELP4):c.1144-19903_1144-19902del	ELP4, LOC105980003 (C505fs +1 more)	Microsatellite (frameshift variant +1 more)	Autism spectrum disorder	GLikely benign
Select item 2429056	NM_000280.4(PAX6):c.*3854A>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 2427580	NC_000011.9:g.(?_30253450)_(32460464_?)del	ARL14EP, DCDC1 +9 more	Deletion	not provided	GUncertain significance
Select item 2426507	NC_000011.9:g.(?_31284610)_(31671789_?)del	DCDC1, DNAJC24 +2 more	Deletion	not provided	GUncertain significance
Select item 2426506	NC_000011.9:g.(?_31804921)_(31807095_?)del	ELP4, PAX6	Deletion	not provided	GUncertain significance
Select item 2422796	NC_000011.9:g.(?_31804921)_(31816356_?)del	ELP4, PAX6	Deletion	Aniridia 1 +1 more	GPathogenic
Select item 2422793	NC_000011.9:g.(?_31625295)_(31822424_?)del	ELP4, PAX6	Deletion	Aniridia 1 +1 more	GPathogenic
Select item 2391737	NM_019040.5(ELP4):c.326A>G (p.Asn109Ser)	ELP4 (N109S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2334457	NM_019040.5(ELP4):c.997T>A (p.Ser333Thr)	ELP4, PAX6DRR (S333T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324524	NM_019040.5(ELP4):c.842T>C (p.Leu281Pro)	ELP4 (L281P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303027	NM_019040.5(ELP4):c.812G>A (p.Cys271Tyr)	ELP4 (C272Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240660	NM_019040.5(ELP4):c.947G>C (p.Arg316Pro)	ELP4, PAX6DRR (R316P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2096668	NM_001368894.2(PAX6):c.1287T>G (p.Ser429=)	ELP4, PAX6 (L365R +4 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Aniridia 1 +1 more	GLikely benign
Select item 2078141	NM_001368894.2(PAX6):c.1266C>T (p.Pro422=)	ELP4, PAX6 (P358L +4 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Aniridia 1 +1 more	GLikely benign
Select item 2065488	NM_019040.5(ELP4):c.1183C>T (p.Arg395Cys)	ELP4 (P442L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2042726	NM_019040.5(ELP4):c.1184G>A (p.Arg395His)	ELP4 (R395H)	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GUncertain significance
Select item 2037352	NM_001368894.2(PAX6):c.1293C>T (p.Tyr431=)	ELP4, PAX6 (T314I +4 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Aniridia 1 +1 more	GLikely benign
Select item 1954898	NM_019040.5(ELP4):c.848A>C (p.Lys283Thr)	ELP4 (K283T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809027	GRCh37/hg19 11p13(chr11:31736984-32119792)x3	ELP4, PAX6 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808645	GRCh37/hg19 11p13(chr11:31794997-31822354)x1	ELP4, PAX6	Copy number loss	not provided	GPathogenic
Select item 1808138	GRCh37/hg19 11p13(chr11:31574359-31654081)x1	ELP4	Copy number loss	not provided	GUncertain significance
Select item 1807696	GRCh37/hg19 11p13-12(chr11:31372721-38259316)x1	ABTB2, APIP +40 more	Copy number loss	not provided	GPathogenic
Select item 1709908	NM_001368894.2(PAX6):c.1231A>T (p.Ile411Phe)	ELP4, PAX6 (I196F +8 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Aniridia 1	GUncertain significance
Select item 1695895	GRCh37/hg19 11p14.1-13(chr11:27547893-31656604)x1	BDNF, BDNF-AS +11 more	Copy number loss	not provided	Gnot provided
Select item 1644231	NM_001368894.2(PAX6):c.1230C>A (p.Leu410=)	ELP4, PAX6 (S210* +4 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Aniridia 1 +1 more	GLikely benign
Select item 1625483	NM_001368894.2(PAX6):c.1236C>T (p.Ser412=)	ELP4, PAX6 (P212L +4 more)	Single nucleotide variant (non-coding transcript variant +3 more)	Aniridia 1 +1 more	GBenign
Select item 1552648	NM_001368894.2(PAX6):c.1226-4C>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant +1 more)	Aniridia 1 +1 more	GLikely benign
Select item 1498939	NM_001368894.2(PAX6):c.1282A>G (p.Met428Val)	ELP4, PAX6 (M495V +13 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Irido-corneo-trabecular dysgenesis +2 more	GUncertain significance
Select item 1468159	NC_000011.10:g.31785546_31785547del	ELP4, PAX6	Deletion (3 prime UTR variant)	Aniridia 1 +1 more	GUncertain significance
Select item 1458968	NC_000011.9:g.(?_31804921)_(31812428_?)del	ELP4, PAX6	Deletion	Aniridia 1 +1 more	GPathogenic
Select item 1454826	NC_000011.9:g.(?_31669269)_(32460464_?)del	ELP4, PAX6 +3 more	Deletion	not provided	GUncertain significance
Select item 1340711	GRCh37/hg19 11p13(chr11:31415634-31790329)x1	DNAJC24, ELP4 +1 more	Copy number loss	not provided	GLikely pathogenic
Select item 1328942	NM_019040.5(ELP4):c.272A>G (p.Tyr91Cys)	ELP4 (Y91C)	Single nucleotide variant (missense variant)	Cognitive impairment +2 more	GLikely pathogenic
Select item 1328941	NM_019040.5(ELP4):c.886C>A (p.Leu296Ile)	ELP4 (L296I +1 more)	Single nucleotide variant (missense variant)	Cognitive impairment +2 more	GLikely pathogenic
Select item 1278291	NM_001368894.2(PAX6):c.*21del (p.Ter437=)	ELP4, PAX6 (K244fs +4 more)	Deletion (no sequence alteration +3 more)	not provided +1 more	GBenign/Likely benign
Select item 1266340	NM_001368894.2(PAX6):c.1226-242del	ELP4, PAX6	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1262320	NM_001368894.2(PAX6):c.*21dup (p.Ter437=)	ELP4, PAX6 (E245fs +4 more)	Duplication (3 prime UTR variant +3 more)	not provided +1 more	GBenign
Select item 1255380	NM_019040.5(ELP4):c.927+4C>A	ELP4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1237893	NM_001368894.2(PAX6):c.20_21del (p.Ter437=)	ELP4, PAX6 (K244fs +4 more)	Deletion (3 prime UTR variant +3 more)	PAX6-related ocular dysgenesis +2 more	GBenign/Likely benign
Select item 1211071	NM_001368894.2(PAX6):c.1226-242dup	ELP4, PAX6	Duplication (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1206596	NM_001368894.2(PAX6):c.1308G>A (p.Gln436=)	ELP4, PAX6 (S236N +4 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GLikely benign
Select item 1206379	NM_001368894.2(PAX6):c.1306C>A (p.Gln436Lys)	ELP4, PAX6 (Q221K +13 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified +1 more	GBenign/Likely benign
Select item 1174681	NM_019040.5(ELP4):c.17C>T (p.Thr6Ile)	ELP4 (T6I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1112543	NM_001368894.2(PAX6):c.1242T>G (p.Gly414=)	ELP4, PAX6 (V214G +4 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Aniridia 1 +1 more	GLikely benign
Select item 1101744	NM_001368894.2(PAX6):c.1226-13C>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant +1 more)	Aniridia 1 +1 more	GLikely benign
Select item 1072682	NC_000011.9:g.(?_31804921)_(31816377_?)del	ELP4, PAX6	Deletion	Irido-corneo-trabecular dysgenesis +1 more	GPathogenic
Select item 1072681	NC_000011.9:g.(?_31284590)_(31824402_?)del	DCDC1, DNAJC24 +3 more	Deletion	Irido-corneo-trabecular dysgenesis +1 more	GPathogenic
Select item 1032057	NM_019040.5(ELP4):c.1023T>G (p.Tyr341Ter)	ELP4, PAX6DRR (Y341* +1 more)	Single nucleotide variant (nonsense)	Aniridia 2	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 996731	NM_019040.5(ELP4):c.284del (p.Ser95fs)	ELP4 (S95fs)	Deletion (frameshift variant)	Autism spectrum disorder	Gassociation
Select item 932051	NM_001368894.2(PAX6):c.1301G>A (p.Arg434Lys)	ELP4, PAX6 (R353K +13 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Coloboma of optic nerve	GUncertain significance

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