Related gene-specific medical variations for Gene (Select 26610) - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3063227	GRCh37/hg19 11p13(chr11:31714871-31804752)x1	ELP4	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 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 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 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 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 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 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 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 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 1808138	GRCh37/hg19 11p13(chr11:31574359-31654081)x1	ELP4	Copy number loss	not provided	GUncertain significance
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 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 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 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 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 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 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
Select item 879183	NM_001368894.2(PAX6):c.*90A>C	ELP4, PAX6 (K350T +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Foveal hypoplasia 1 +3 more	GUncertain significance
Select item 878545	NM_001368894.2(PAX6):c.*626G>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant +1 more)	Anophthalmia-microphthalmia syndrome +3 more	GUncertain significance
Select item 877566	NM_001368894.2(PAX6):c.*247T>A	ELP4, PAX6 (F402L +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Anophthalmia-microphthalmia syndrome +3 more	GUncertain significance
Select item 877565	NM_001368894.2(PAX6):c.*272T>G	ELP4, PAX6 (L328V +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Anophthalmia-microphthalmia syndrome +3 more	GUncertain significance
Select item 877523	NM_001368894.2(PAX6):c.*842G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +6 more	GBenign/Likely benign
Select item 817624	NM_001368894.2(PAX6):c.1242del (p.Val415fs)	ELP4, PAX6 (V350fs +13 more)	Deletion (3 prime UTR variant +2 more)	not provided	GLikely pathogenic
Select item 802665	NM_001368894.2(PAX6):c.1309del (p.Ter437LysextTer?)	ELP4, PAX6 (S236fs +4 more)	Deletion (3 prime UTR variant +3 more)	Aniridia 1	GUncertain significance
Select item 800482	NM_001368894.2(PAX6):c.1309T>C (p.Ter437Gln)	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GPathogenic/Likely pathogenic
Select item 800481	NM_001368894.2(PAX6):c.1295_1304del (p.Trp432fs)	ELP4, PAX6 (G368fs +13 more)	Deletion (3 prime UTR variant +2 more)	Aniridia 1	GPathogenic
Select item 800480	NM_001368894.2(PAX6):c.1294_1308delinsACAGTAAA (p.Trp432fs)	ELP4, PAX6 (W365fs +8 more)	Indel (3 prime UTR variant +3 more)	Aniridia 1	GPathogenic
Select item 800479	NM_001368894.2(PAX6):c.1282dup (p.Met428fs)	ELP4, PAX6 (C364fs +13 more)	Duplication (3 prime UTR variant +2 more)	Aniridia 1	GPathogenic
Select item 800478	NM_001368894.2(PAX6):c.1226-1G>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant +1 more)	Aniridia 1	GPathogenic
Select item 707533	NM_019040.5(ELP4):c.1051C>T (p.Arg351Trp)	ELP4, PAX6DRR (R351W +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 692032	NM_001368894.2(PAX6):c.1309dup (p.Ter437LeuextTer?)	ELP4, PAX6 (K387* +4 more)	Duplication (3 prime UTR variant +4 more)	Aniridia 1	GPathogenic
Select item 676688	NM_001368894.2(PAX6):c.1309T>A (p.Ter437Lys)	ELP4, PAX6 (S372R +4 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GLikely benign
Select item 638055	NM_001368894.2(PAX6):c.1303_1309del (p.Leu435fs)	ELP4, PAX6 (D234fs +13 more)	Deletion (3 prime UTR variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 460457	NM_001368894.2(PAX6):c.1257_1263del (p.Gln420fs)	ELP4, PAX6 (F302fs +13 more)	Deletion (frameshift variant +2 more)	Aniridia 1 +1 more	GPathogenic
Select item 438711	NM_001368894.2(PAX6):c.1266C>G (p.Pro422=)	ELP4, PAX6 (P222R +4 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Aniridia 1	GUncertain significance
Select item 394712	GRCh37/hg19 11p13(chr11:31648607-31653533)x3	ELP4	Copy number gain	See cases	GUncertain significance
Select item 394027	GRCh37/hg19 11p13(chr11:31610782-31712067)x3	ELP4	Copy number gain	See cases	GUncertain significance
Select item 379272	NM_001368894.2(PAX6):c.1226-2A>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 304355	NM_001368894.2(PAX6):c.*107G>C	ELP4, PAX6 (E423Q +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Foveal hypoplasia 1 +6 more	GUncertain significance
Select item 304354	NM_001368894.2(PAX6):c.*183dup	ELP4, PAX6 (Y381* +4 more)	Duplication (3 prime UTR variant +2 more)	Foveal hypoplasia 1 +6 more	GUncertain significance
Select item 304353	NM_001368894.2(PAX6):c.*207G>A	ELP4, PAX6 (G442E +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GUncertain significance
Select item 304352	NM_001368894.2(PAX6):c.*226T>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant +2 more)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GUncertain significance
Select item 304351	NM_001368894.2(PAX6):c.*335T>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant +1 more)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GUncertain significance
Select item 304350	NM_001368894.2(PAX6):c.*356T>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant +1 more)	Foveal hypoplasia 1 +7 more	GConflicting classifications of pathogenicity
Select item 304349	NM_001368894.2(PAX6):c.*356del	ELP4, PAX6	Deletion (3 prime UTR variant +1 more)	Foveal hypoplasia 1 +7 more	GUncertain significance
Select item 304348	NM_001368894.2(PAX6):c.*357A>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant +1 more)	Foveal hypoplasia 1 +7 more	GUncertain significance
Select item 304347	NM_001368894.2(PAX6):c.*417C>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant keratitis +6 more	GBenign/Likely benign
Select item 304346	NM_001368894.2(PAX6):c.*841C>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant +1 more)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GConflicting classifications of pathogenicity
Select item 304345	NM_001368894.2(PAX6):c.*891G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant +1 more)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GConflicting classifications of pathogenicity
Select item 253744	GRCh37/hg19 11p13(chr11:31555743-31561481)x1	ELP4	Copy number loss	See cases	GUncertain significance
Select item 194162	NM_001368894.2(PAX6):c.1280_1284dup (p.Ser429fs)	ELP4, PAX6 (C364* +13 more)	Duplication (3 prime UTR variant +3 more)	not provided	GPathogenic
Select item 120328	NM_019040.5(ELP4):c.1143+14176C>A	ELP4, PAX6DRR	Single nucleotide variant (intron variant)	Aniridia 1	GPathogenic
Select item 3474	NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu)	ELP4, PAX6 (K387* +4 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Irido-corneo-trabecular dysgenesis +8 more	GPathogenic/Likely pathogenic

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Items: 70