"Illumina Laboratory Services, Illumina"[submitter] AND "PAX6"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 304289	NM_019040.5(ELP4):c.*1302T>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GBenign/Likely benign
Select item 879370	NM_019040.5(ELP4):c.*1404G>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant keratitis +3 more	GUncertain significance
Select item 304290	NM_019040.5(ELP4):c.1489_1491delinsCATTTCTTTTAATCTGTG	ELP4, PAX6	Indel (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +6 more	GUncertain significance
Select item 879749	NM_019040.5(ELP4):c.*1615A>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant keratitis +3 more	GUncertain significance
Select item 877788	NM_019040.5(ELP4):c.*1626G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +3 more	GUncertain significance
Select item 304291	NM_019040.5(ELP4):c.*1714C>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GConflicting classifications of pathogenicity
Select item 304292	NM_019040.5(ELP4):c.*1783T>G	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_019040.5(ELP4):c.*1811A>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Anophthalmia-microphthalmia syndrome +6 more	GBenign/Likely benign
Select item 304294	NM_019040.5(ELP4):c.*1877A>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GUncertain significance
Select item 304295	NM_019040.5(ELP4):c.*2040G>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GBenign/Likely benign
Select item 877851	NM_019040.5(ELP4):c.*2041C>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +3 more	GUncertain significance
Select item 304296	NM_019040.5(ELP4):c.*2049A>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GUncertain significance
Select item 304297	NM_019040.5(ELP4):c.*2114C>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GBenign
Select item 304298	NM_019040.5(ELP4):c.*2282G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Anophthalmia-microphthalmia syndrome +6 more	GUncertain significance
Select item 304299	NM_019040.5(ELP4):c.*2334T>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GUncertain significance
Select item 879478	NM_019040.5(ELP4):c.*2387C>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant keratitis +3 more	GUncertain significance
Select item 304300	NM_019040.5(ELP4):c.*2407C>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GUncertain significance
Select item 304301	NM_019040.5(ELP4):c.*2452C>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	11p partial monosomy syndrome +7 more	GBenign
Select item 304302	NM_019040.5(ELP4):c.*2502G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GUncertain significance
Select item 878063	NM_019040.5(ELP4):c.*2522G>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +3 more	GUncertain significance
Select item 304303	NM_019040.5(ELP4):c.*2525C>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Anophthalmia-microphthalmia syndrome +6 more	GBenign/Likely benign
Select item 304304	NM_019040.5(ELP4):c.*2664G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GConflicting classifications of pathogenicity
Select item 304305	NM_019040.5(ELP4):c.2673_2674del	ELP4, PAX6	Deletion (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +7 more	GBenign
Select item 304306	NM_019040.5(ELP4):c.*2710CA[2]	ELP4, PAX6	Microsatellite (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GUncertain significance
Select item 877953	NM_019040.5(ELP4):c.*2716T>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +3 more	GUncertain significance
Select item 304307	NM_019040.5(ELP4):c.*2740G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +7 more	GConflicting classifications of pathogenicity
Select item 878112	NM_019040.5(ELP4):c.*2845T>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +3 more	GUncertain significance
Select item 878113	NM_019040.5(ELP4):c.*2982G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +5 more	GConflicting classifications of pathogenicity
Select item 879572	NM_019040.5(ELP4):c.*2992G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant keratitis +3 more	GUncertain significance
Select item 304308	NM_019040.5(ELP4):c.*3092T>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Anophthalmia-microphthalmia syndrome +6 more	GConflicting classifications of pathogenicity
Select item 304309	NM_019040.5(ELP4):c.3164_3165insAAAA	ELP4, PAX6	Insertion (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +7 more	GBenign
Select item 879928	NM_019040.5(ELP4):c.*3207T>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant keratitis +3 more	GUncertain significance
Select item 304310	NM_019040.5(ELP4):c.*3208C>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +7 more	GBenign
Select item 304311	NM_019040.5(ELP4):c.*3242G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +7 more	GConflicting classifications of pathogenicity
Select item 879619	NM_019040.5(ELP4):c.*3303G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant keratitis +3 more	GUncertain significance
Select item 304312	NM_019040.5(ELP4):c.*3383C>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +6 more	GConflicting classifications of pathogenicity
Select item 304313	NM_019040.5(ELP4):c.*3425C>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +7 more	GBenign/Likely benign
Select item 304314	NM_019040.5(ELP4):c.*3433G>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +6 more	GLikely benign
Select item 304315	NM_019040.5(ELP4):c.*3504T>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GUncertain significance
Select item 304316	NM_019040.5(ELP4):c.*3509A>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +7 more	GBenign/Likely benign
Select item 304317	NM_019040.5(ELP4):c.3514_3517dup	ELP4, PAX6	Duplication (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +7 more	GBenign
Select item 304318	NM_019040.5(ELP4):c.*3523del	ELP4, PAX6	Deletion (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GUncertain significance
Select item 304319	NM_019040.5(ELP4):c.*3528A>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GConflicting classifications of pathogenicity
Select item 879675	NM_019040.5(ELP4):c.*3588A>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant keratitis +3 more	GUncertain significance
Select item 304321	NM_019040.5(ELP4):c.*3703G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +7 more	GBenign
Select item 304320	NM_019040.5(ELP4):c.3703_3705del	ELP4, PAX6	Deletion (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GUncertain significance
Select item 877248	NM_019040.5(ELP4):c.*3706T>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +3 more	GUncertain significance
Select item 304322	NM_019040.5(ELP4):c.*3713A>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +6 more	GBenign/Likely benign
Select item 878294	NM_019040.5(ELP4):c.*3715T>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +3 more	GUncertain significance
Select item 878295	NM_019040.5(ELP4):c.*3772G>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +3 more	GUncertain significance
Select item 878883	NM_019040.5(ELP4):c.*3851C>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +5 more	GBenign
Select item 304323	NM_019040.5(ELP4):c.*3859G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GUncertain significance
Select item 304324	NM_019040.5(ELP4):c.*3904G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +7 more	GConflicting classifications of pathogenicity
Select item 304325	NM_019040.5(ELP4):c.*3920C>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GUncertain significance
Select item 304326	NM_019040.5(ELP4):c.*3978T>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GUncertain significance
Select item 304327	NM_019040.5(ELP4):c.*3994C>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +7 more	GBenign/Likely benign
Select item 304328	NM_019040.5(ELP4):c.*3998C>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Anophthalmia-microphthalmia syndrome +8 more	GBenign
Select item 304329	NM_019040.5(ELP4):c.*4017A>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GUncertain significance
Select item 304330	NM_019040.5(ELP4):c.*4023C>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +6 more	GUncertain significance
Select item 304331	NM_019040.5(ELP4):c.*4025C>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GUncertain significance
Select item 880152	NM_019040.5(ELP4):c.*4056G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant keratitis +3 more	GUncertain significance
Select item 304332	NM_019040.5(ELP4):c.*4105C>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +7 more	GBenign
Select item 304333	NM_019040.5(ELP4):c.*4172A>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GBenign/Likely benign
Select item 304334	NM_019040.5(ELP4):c.*4250C>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +7 more	GBenign
Select item 304335	NM_019040.5(ELP4):c.*4251G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	11p partial monosomy syndrome +6 more	GConflicting classifications of pathogenicity
Select item 878980	NM_019040.5(ELP4):c.*4323G>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +3 more	GUncertain significance
Select item 880208	NM_019040.5(ELP4):c.*4441T>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant keratitis +3 more	GUncertain significance
Select item 880209	NM_019040.5(ELP4):c.*4542G>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant keratitis +3 more	GUncertain significance
Select item 877418	NM_019040.5(ELP4):c.*4571A>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +3 more	GUncertain significance
Select item 304336	NM_019040.5(ELP4):c.*4806T>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GConflicting classifications of pathogenicity
Select item 304337	NM_019040.5(ELP4):c.*4889G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GUncertain significance
Select item 304338	NM_019040.5(ELP4):c.*4932G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GBenign/Likely benign
Select item 879034	NM_019040.5(ELP4):c.*4974C>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +4 more	GBenign/Likely benign
Select item 304339	NM_019040.5(ELP4):c.*5016T>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GUncertain significance
Select item 304340	NM_019040.5(ELP4):c.*5123T>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GConflicting classifications of pathogenicity
Select item 304341	NM_019040.5(ELP4):c.*5226T>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +7 more	GBenign
Select item 304342	NM_019040.5(ELP4):c.*5347T>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	11p partial monosomy syndrome +6 more	GBenign
Select item 304343	NM_019040.5(ELP4):c.*5357A>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GUncertain significance
Select item 304344	NM_019040.5(ELP4):c.*5471T>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GUncertain significance
Select item 304345	NM_001368894.2(PAX6):c.*891G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant +1 more)	11p partial monosomy syndrome +6 more	GConflicting classifications of pathogenicity
Select item 877523	NM_001368894.2(PAX6):c.*842G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant +1 more)	Anophthalmia-microphthalmia syndrome +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)	Autosomal dominant keratitis +6 more	GConflicting classifications of pathogenicity
Select item 878545	NM_001368894.2(PAX6):c.*626G>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant keratitis +3 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 304348	NM_001368894.2(PAX6):c.*357A>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant +1 more)	Foveal hypoplasia 1 +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)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +7 more	GConflicting classifications of pathogenicity
Select item 304349	NM_001368894.2(PAX6):c.*356del	ELP4, PAX6	Deletion (3 prime UTR variant +1 more)	11p partial monosomy syndrome +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)	Autosomal dominant keratitis +6 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)	Autosomal dominant keratitis +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)	Autosomal dominant keratitis +3 more	GUncertain significance
Select item 304352	NM_001368894.2(PAX6):c.*226T>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant +2 more)	11p partial monosomy syndrome +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)	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)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GUncertain significance
Select item 304355	NM_001368894.2(PAX6):c.*107G>C	ELP4, PAX6 (E423Q +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	11p partial monosomy syndrome +6 more	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)	Anophthalmia-microphthalmia syndrome +3 more	GUncertain significance
Select item 290049	NM_001368894.2(PAX6):c.1179A>C (p.Thr393=)	PAX6	Single nucleotide variant (synonymous variant +2 more)	Aniridia 1 +8 more	GConflicting classifications of pathogenicity
Select item 877625	NM_001368894.2(PAX6):c.992G>A (p.Arg331Gln)	PAX6 (R250Q +9 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant keratitis +3 more	GUncertain significance
Select item 623768	NM_001368894.2(PAX6):c.985T>C (p.Leu329=)	PAX6	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant keratitis +6 more	GConflicting classifications of pathogenicity
Select item 878639	NM_001368894.2(PAX6):c.972A>T (p.Thr324=)	PAX6	Single nucleotide variant (synonymous variant +1 more)	carboxymethyl-dextran-A2-gadolinium-DOTA +6 more	GConflicting classifications of pathogenicity
Select item 878640	NM_001368894.2(PAX6):c.909T>C (p.Ser303=)	PAX6	Single nucleotide variant (synonymous variant +1 more)	Aniridia 1 +6 more	GConflicting classifications of pathogenicity

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