Pax6[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 146313	GRCh38/hg38 11p13(chr11:31299323-31790071)x1	DCDC1, DNAJC24 +15 more	Copy number loss	See cases	GPathogenic
Select item 58886	GRCh38/hg38 11p13(chr11:31528093-31807593)x1	ELP4, LOC105980003 +8 more	Copy number loss	See cases	GPathogenic
Select item 151275	GRCh38/hg38 11p13(chr11:31600532-32122801)x3	ELP4, LINC03031 +23 more	Copy number gain	See cases	GPathogenic
Select item 57032	GRCh38/hg38 11p13(chr11:31634904-32088303)x3	ELP4, LINC03031 +19 more	Copy number gain	See cases	GUncertain significance
Select item 584225	NC_000011.10:g.(?_31664397)_(31794829_?)del	LOC126861176, LOC130005471 +5 more	Deletion	Irido-corneo-trabecular dysgenesis +1 more	GPathogenic
Select item 267194	NC_000011.8:g.31698271_31794414del96144	LOC126861176, PAX6 +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 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 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)	Anophthalmia-microphthalmia syndrome +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)	Autosomal dominant keratitis +3 more	GUncertain significance
Select item 304291	NM_019040.5(ELP4):c.*1714C>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	11p partial monosomy syndrome +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)	11p partial monosomy syndrome +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)	carboxymethyl-dextran-A2-gadolinium-DOTA +6 more	GBenign/Likely benign
Select item 304294	NM_019040.5(ELP4):c.*1877A>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	11p partial monosomy syndrome +6 more	GUncertain significance
Select item 1468159	NM_019040.5(ELP4):c.2022_2023del	ELP4, PAX6	Deletion (3 prime UTR variant)	Aniridia 1 +1 more	GUncertain significance
Select item 304295	NM_019040.5(ELP4):c.*2040G>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +6 more	GBenign/Likely benign
Select item 877851	NM_019040.5(ELP4):c.*2041C>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant keratitis +3 more	GUncertain significance
Select item 304296	NM_019040.5(ELP4):c.*2049A>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant keratitis +6 more	GUncertain significance
Select item 304297	NM_019040.5(ELP4):c.*2114C>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	11p partial monosomy syndrome +6 more	GBenign
Select item 304298	NM_019040.5(ELP4):c.*2282G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	11p partial monosomy syndrome +6 more	GUncertain significance
Select item 304299	NM_019040.5(ELP4):c.*2334T>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	11p partial monosomy syndrome +6 more	GUncertain significance
Select item 879478	NM_019040.5(ELP4):c.*2387C>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Anophthalmia-microphthalmia syndrome +3 more	GUncertain significance
Select item 304300	NM_019040.5(ELP4):c.*2407C>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Congenital aniridia +6 more	GUncertain significance
Select item 304301	NM_019040.5(ELP4):c.*2452C>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia 1 +7 more	GBenign
Select item 304302	NM_019040.5(ELP4):c.*2502G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +6 more	GUncertain significance
Select item 878063	NM_019040.5(ELP4):c.*2522G>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Anophthalmia-microphthalmia syndrome +3 more	GUncertain significance
Select item 304303	NM_019040.5(ELP4):c.*2525C>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GBenign/Likely benign
Select item 2429056	NM_019040.5(ELP4):c.*2556T>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 304304	NM_019040.5(ELP4):c.*2664G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia 1 +6 more	GConflicting classifications of pathogenicity
Select item 304305	NM_019040.5(ELP4):c.2673_2674del	ELP4, PAX6	Deletion (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +7 more	GBenign
Select item 304306	NM_019040.5(ELP4):c.*2710CA[2]	ELP4, PAX6	Microsatellite (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +6 more	GUncertain significance
Select item 877953	NM_019040.5(ELP4):c.*2716T>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant keratitis +3 more	GUncertain significance
Select item 304307	NM_019040.5(ELP4):c.*2740G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +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)	Autosomal dominant keratitis +3 more	GUncertain significance
Select item 878113	NM_019040.5(ELP4):c.*2982G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant keratitis +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)	Anophthalmia-microphthalmia syndrome +3 more	GUncertain significance
Select item 304308	NM_019040.5(ELP4):c.*3092T>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia 1 +6 more	GConflicting classifications of pathogenicity
Select item 304309	NM_019040.5(ELP4):c.3164_3165insAAAA	ELP4, PAX6	Insertion (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +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)	11p partial monosomy syndrome +7 more	GBenign
Select item 304311	NM_019040.5(ELP4):c.*3242G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	11p partial monosomy syndrome +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)	Anophthalmia-microphthalmia syndrome +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)	Anophthalmia-microphthalmia syndrome +6 more	GLikely benign
Select item 304315	NM_019040.5(ELP4):c.*3504T>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Congenital aniridia +6 more	GUncertain significance
Select item 304316	NM_019040.5(ELP4):c.*3509A>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia 1 +7 more	GBenign/Likely benign
Select item 304317	NM_019040.5(ELP4):c.3514_3517dup	ELP4, PAX6	Duplication (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +7 more	GBenign
Select item 304318	NM_019040.5(ELP4):c.*3523del	ELP4, PAX6	Deletion (3 prime UTR variant)	Congenital aniridia +6 more	GUncertain significance
Select item 304319	NM_019040.5(ELP4):c.*3528A>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +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)	not provided +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)	Foveal hypoplasia 1 +3 more	GUncertain significance
Select item 304322	NM_019040.5(ELP4):c.*3713A>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GBenign/Likely benign
Select item 878294	NM_019040.5(ELP4):c.*3715T>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant keratitis +3 more	GUncertain significance
Select item 878295	NM_019040.5(ELP4):c.*3772G>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Anophthalmia-microphthalmia syndrome +3 more	GUncertain significance
Select item 878883	NM_019040.5(ELP4):c.*3851C>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant keratitis +5 more	GBenign
Select item 304323	NM_019040.5(ELP4):c.*3859G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	11p partial monosomy syndrome +6 more	GUncertain significance
Select item 304324	NM_019040.5(ELP4):c.*3904G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +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)	carboxymethyl-dextran-A2-gadolinium-DOTA +6 more	GUncertain significance
Select item 304326	NM_019040.5(ELP4):c.*3978T>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	11p partial monosomy syndrome +6 more	GUncertain significance
Select item 304327	NM_019040.5(ELP4):c.*3994C>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Anophthalmia-microphthalmia syndrome +7 more	GBenign/Likely benign
Select item 304328	NM_019040.5(ELP4):c.*3998C>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +8 more	GBenign
Select item 304329	NM_019040.5(ELP4):c.*4017A>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +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)	11p partial monosomy syndrome +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)	Anophthalmia-microphthalmia syndrome +7 more	GBenign
Select item 304333	NM_019040.5(ELP4):c.*4172A>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	11p partial monosomy syndrome +6 more	GBenign/Likely benign
Select item 304334	NM_019040.5(ELP4):c.*4250C>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	not provided +7 more	GBenign
Select item 304335	NM_019040.5(ELP4):c.*4251G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +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)	Autosomal dominant keratitis +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)	Foveal hypoplasia 1 +3 more	GUncertain significance
Select item 304336	NM_019040.5(ELP4):c.*4806T>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Anophthalmia-microphthalmia syndrome +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)	carboxymethyl-dextran-A2-gadolinium-DOTA +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)	Foveal hypoplasia 1 +4 more	GBenign/Likely benign
Select item 304339	NM_019040.5(ELP4):c.*5016T>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +6 more	GUncertain significance
Select item 304340	NM_019040.5(ELP4):c.*5123T>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	11p partial monosomy syndrome +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)	11p partial monosomy syndrome +7 more	GBenign
Select item 304342	NM_019040.5(ELP4):c.*5347T>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Anophthalmia-microphthalmia syndrome +6 more	GBenign
Select item 304343	NM_019040.5(ELP4):c.*5357A>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +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

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