ELP4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 145969	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	LOC129390275, LOC129390276 +255 more	Copy number loss	See cases	GPathogenic
Select item 267195	NC_000011.10:g.30896521_31676711del	PAX6DRR, PAX6_HS8 +11 more	Deletion	Congenital aniridia	GPathogenic
Select item 267196	NC_000011.10:g.30988877_31725876del	DCDC1, DNAJC24 +13 more	Deletion	Congenital aniridia	GPathogenic
Select item 148438	GRCh38/hg38 11p13(chr11:31070635-31535274)x1	DCDC1, DNAJC24 +9 more	Copy number loss	See cases	GUncertain significance
Select item 267197	NC_000011.10:g.31130456_31671718del	DCDC1, DNAJC24 +10 more	Deletion	Congenital aniridia	GPathogenic
Select item 151268	GRCh38/hg38 11p13(chr11:31189295-31701133)x1	DCDC1, DNAJC24 +11 more	Copy number loss	See cases	GPathogenic
Select item 267198	NC_000011.10:g.31256273_31773692del	LOC129390273, LOC129390274 +13 more	Deletion	Congenital aniridia	GPathogenic
Select item 147813	GRCh38/hg38 11p13(chr11:31299323-31726083)x1	DCDC1, DNAJC24 +12 more	Copy number loss	See cases	GUncertain significance
Select item 146313	GRCh38/hg38 11p13(chr11:31299323-31790071)x1	DCDC1, DNAJC24 +15 more	Copy number loss	See cases	GPathogenic
Select item 267199	NC_000011.10:g.31400877_31729876del	DNAJC24, ELP4 +9 more	Deletion	Congenital aniridia	GPathogenic
Select item 545141	NC_000011.10:g.(?_31405793)_(31548667_?)del	DNAJC24, ELP4 +5 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 58860	GRCh38/hg38 11p13(chr11:31500417-31539732)x1	ELP4, IMMP1L	Copy number loss	See cases	GPathogenic
Select item 771804	NM_019040.5(ELP4):c.15A>C (p.Ala5=)	ELP4	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 3088519	NM_019040.5(ELP4):c.31G>A (p.Ala11Thr)	ELP4 (A11T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2887867	NM_019040.5(ELP4):c.63C>G (p.Ala21=)	ELP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3088524	NM_019040.5(ELP4):c.92G>T (p.Arg31Met)	ELP4 (R31M)	Single nucleotide variant (missense variant)	not specified	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 2901384	NM_019040.5(ELP4):c.127G>T (p.Gly43Cys)	ELP4 (G43C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2851004	NM_019040.5(ELP4):c.223+12G>A	ELP4	Single nucleotide variant (intron variant)	not provided	GBenign
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 3088518	NM_019040.5(ELP4):c.245C>G (p.Thr82Arg)	ELP4 (T82R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 58886	GRCh38/hg38 11p13(chr11:31528093-31807593)x1	ELP4, LOC105980003 +8 more	Copy number loss	See cases	GPathogenic
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 996731	NM_019040.5(ELP4):c.284del (p.Ser95fs)	ELP4 (S95fs)	Deletion (frameshift variant)	Autism spectrum disorder	Gassociation
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 772330	NM_019040.5(ELP4):c.338T>C (p.Leu113Ser)	ELP4 (L113S)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 2712116	NM_019040.5(ELP4):c.494A>C (p.Gln165Pro)	ELP4 (Q165P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 151275	GRCh38/hg38 11p13(chr11:31600532-32122801)x3	ELP4, LINC03031 +23 more	Copy number gain	See cases	GPathogenic
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 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 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 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 707203	NM_019040.5(ELP4):c.572C>A (p.Pro191Gln)	ELP4 (P192Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2801587	NM_019040.5(ELP4):c.606A>T (p.Gly202=)	ELP4	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 3345697	NM_019040.5(ELP4):c.744dup (p.Gln249fs)	ELP4 (Q249fs +1 more)	Duplication (frameshift variant)	ELP4-related disorder	GUncertain significance
Select item 718952	NM_019040.5(ELP4):c.759A>C (p.Leu253Phe)	ELP4 (L253F +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 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 778725	NM_019040.5(ELP4):c.801C>T (p.Asp267=)	ELP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 744247	NM_019040.5(ELP4):c.810C>T (p.Cys270=)	ELP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 2852057	NM_019040.5(ELP4):c.882C>T (p.Thr294=)	ELP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 772122	NM_019040.5(ELP4):c.898A>C (p.Ile300Leu)	ELP4 (I300L +1 more)	Single nucleotide variant (missense variant)	not provided	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 513673	NM_019040.5(ELP4):c.927+5G>T	ELP4	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3002115	NM_019040.5(ELP4):c.927+17A>G	ELP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 57032	GRCh38/hg38 11p13(chr11:31634904-32088303)x3	ELP4, LINC03031 +19 more	Copy number gain	See cases	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 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 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 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 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 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 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 584225	NC_000011.10:g.(?_31664397)_(31794829_?)del	LOC126861176, ELP4 +5 more	Deletion	Aniridia 1 +1 more	GPathogenic
Select item 120328	NM_019040.5(ELP4):c.1143+14176C>A	ELP4, PAX6DRR	Single nucleotide variant (intron variant)	Aniridia 1	GPathogenic
Select item 267194	NC_000011.8:g.31698271_31794414del96144	LOC106014249, LOC126861176 +5 more	Deletion	Congenital aniridia	GPathogenic
Select item 153496	GRCh38/hg38 11p13(chr11:31720362-32325516)x3	ELP4, LINC03031 +22 more	Copy number gain	See cases	GUncertain significance
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 58887	GRCh38/hg38 11p13(chr11:31765618-31792086)x1	ELP4, LOC126861176 +1 more	Copy number loss	See cases	GPathogenic
Select item 57005	GRCh38/hg38 11p13(chr11:31780836-32088303)x3	ELP4, LINC03031 +14 more	Copy number gain	See cases	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 707248	NM_019040.5(ELP4):c.1181G>C (p.Ser394Thr)	ELP4 (E441D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 specified +1 more	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 786917	NM_019040.5(ELP4):c.1217A>G (p.Lys406Arg)	ELP4 (K406R)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 772384	NM_019040.5(ELP4):c.1220G>T (p.Arg407Leu)	ELP4 (R407L)	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 707044	NM_019040.5(ELP4):c.1241T>C (p.Met414Thr)	ELP4 (M414T)	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 707030	NM_019040.5(ELP4):c.1248C>T (p.Ala416=)	ELP4 (R464W)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 304289	NM_000280.4(PAX6):c.*5108A>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	not provided +7 more	GBenign/Likely benign
Select item 879370	NM_000280.4(PAX6):c.*5006C>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +3 more	GUncertain significance
Select item 304290	NM_000280.4(PAX6):c.4919_4921delATTinsCACAGATTAAAAGAAATG	ELP4, PAX6	Indel (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +6 more	GUncertain significance
Select item 879749	NM_000280.4(PAX6):c.*4795T>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +3 more	GUncertain significance
Select item 877788	NM_000280.4(PAX6):c.*4784C>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +3 more	GUncertain significance
Select item 304291	NM_000280.4(PAX6):c.*4696G>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Foveal hypoplasia 1 +6 more	GConflicting classifications of pathogenicity
Select item 304292	NM_000280.4(PAX6):c.*4627A>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GConflicting classifications of pathogenicity
Select item 304293	NM_000280.4(PAX6):c.*4599T>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant keratitis +6 more	GBenign/Likely benign
Select item 304294	NM_000280.4(PAX6):c.*4533T>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Foveal hypoplasia 1 +6 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 304295	NM_000280.4(PAX6):c.*4370C>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant keratitis +6 more	GBenign/Likely benign
Select item 877851	NM_000280.4(PAX6):c.*4369G>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +3 more	GUncertain significance
Select item 304296	NM_000280.4(PAX6):c.*4361T>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GUncertain significance
Select item 304297	NM_000280.4(PAX6):c.*4296G>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia 1 +6 more	GBenign
Select item 304298	NM_000280.4(PAX6):c.*4128C>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Foveal hypoplasia 1 +6 more	GUncertain significance
Select item 304299	NM_000280.4(PAX6):c.*4076A>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant keratitis +6 more	GUncertain significance

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