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, ELP4 +5 more	Deletion	Aniridia 1 +1 more	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 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_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
Select item 879478	NM_000280.4(PAX6):c.*4023G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +3 more	GUncertain significance
Select item 304300	NM_000280.4(PAX6):c.*4003G>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GUncertain significance
Select item 304301	NM_000280.4(PAX6):c.*3958G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Foveal hypoplasia 1 +7 more	GBenign
Select item 304302	NM_000280.4(PAX6):c.*3908C>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Foveal hypoplasia 1 +6 more	GUncertain significance
Select item 878063	NM_000280.4(PAX6):c.*3888C>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +3 more	GUncertain significance
Select item 304303	NM_000280.4(PAX6):c.*3885G>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Foveal hypoplasia 1 +7 more	GBenign/Likely 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 304304	NM_000280.4(PAX6):c.*3746C>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Foveal hypoplasia 1 +6 more	GConflicting classifications of pathogenicity
Select item 304305	NM_000280.4(PAX6):c.3736_3737delCA	ELP4, PAX6	Deletion (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +7 more	GBenign
Select item 304306	NM_000280.4(PAX6):c.3700_3701delGT	ELP4, PAX6	Microsatellite (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GUncertain significance
Select item 877953	NM_000280.4(PAX6):c.*3694A>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +3 more	GUncertain significance
Select item 304307	NM_000280.4(PAX6):c.*3670C>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia 1 +7 more	GConflicting classifications of pathogenicity
Select item 878112	NM_000280.4(PAX6):c.*3565A>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +3 more	GUncertain significance
Select item 878113	NM_000280.4(PAX6):c.*3428C>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia 1 +5 more	GConflicting classifications of pathogenicity
Select item 879572	NM_000280.4(PAX6):c.*3418C>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +3 more	GUncertain significance
Select item 304308	NM_000280.4(PAX6):c.*3318A>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Foveal hypoplasia 1 +6 more	GConflicting classifications of pathogenicity
Select item 304309	NM_000280.4(PAX6):c.3246_3247insTTTT	ELP4, PAX6	Insertion (3 prime UTR variant)	Foveal hypoplasia 1 +7 more	GBenign
Select item 879928	NM_000280.4(PAX6):c.*3203A>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +3 more	GUncertain significance
Select item 304310	NM_000280.4(PAX6):c.*3202G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	not provided +7 more	GBenign
Select item 304311	NM_000280.4(PAX6):c.*3168C>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Foveal hypoplasia 1 +7 more	GConflicting classifications of pathogenicity
Select item 879619	NM_000280.4(PAX6):c.*3107C>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +3 more	GUncertain significance
Select item 304312	NM_000280.4(PAX6):c.*3027G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Foveal hypoplasia 1 +6 more	GConflicting classifications of pathogenicity
Select item 304313	NM_000280.4(PAX6):c.*2985G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +7 more	GBenign/Likely benign
Select item 304314	NM_000280.4(PAX6):c.*2977C>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant keratitis +6 more	GLikely benign
Select item 304315	NM_000280.4(PAX6):c.*2906A>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant keratitis +6 more	GUncertain significance
Select item 304316	NM_000280.4(PAX6):c.*2901T>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	not provided +7 more	GBenign/Likely benign
Select item 304317	NM_000280.4(PAX6):c.2893_2896dupATTT	ELP4, PAX6	Duplication (3 prime UTR variant)	not provided +7 more	GBenign
Select item 304318	NM_000280.4(PAX6):c.*2887delG	ELP4, PAX6	Deletion (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GUncertain significance
Select item 304319	NM_000280.4(PAX6):c.*2882T>C	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_000280.4(PAX6):c.*2822T>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +3 more	GUncertain significance
Select item 304321	NM_000280.4(PAX6):c.*2707C>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia 1 +7 more	GBenign
Select item 304320	NM_000280.4(PAX6):c.2705_2707delAGC	ELP4, PAX6	Deletion (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GUncertain significance
Select item 877248	NM_000280.4(PAX6):c.*2704A>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +3 more	GUncertain significance
Select item 304322	NM_000280.4(PAX6):c.*2697T>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Foveal hypoplasia 1 +6 more	GBenign/Likely benign
Select item 878294	NM_000280.4(PAX6):c.*2695A>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +3 more	GUncertain significance
Select item 878295	NM_000280.4(PAX6):c.*2638C>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +3 more	GUncertain significance
Select item 878883	NM_000280.4(PAX6):c.*2559G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +5 more	GBenign
Select item 304323	NM_000280.4(PAX6):c.*2551C>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GUncertain significance
Select item 304324	NM_000280.4(PAX6):c.*2506C>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Foveal hypoplasia 1 +7 more	GConflicting classifications of pathogenicity
Select item 304325	NM_000280.4(PAX6):c.*2490G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Foveal hypoplasia 1 +6 more	GUncertain significance
Select item 304326	NM_000280.4(PAX6):c.*2432A>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Foveal hypoplasia 1 +6 more	GUncertain significance
Select item 304327	NM_000280.4(PAX6):c.*2416G>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Foveal hypoplasia 1 +7 more	GBenign/Likely benign
Select item 304328	NC_000011.10:g.31787522C>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	not provided +8 more	GBenign
Select item 304329	NM_000280.4(PAX6):c.*2393T>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Foveal hypoplasia 1 +6 more	GUncertain significance
Select item 304330	NM_000280.4(PAX6):c.*2387G>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Foveal hypoplasia 1 +6 more	GUncertain significance
Select item 304331	NM_000280.4(PAX6):c.*2385G>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Foveal hypoplasia 1 +6 more	GUncertain significance
Select item 880152	NM_000280.4(PAX6):c.*2354C>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +3 more	GUncertain significance
Select item 304332	NM_000280.4(PAX6):c.*2305G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Foveal hypoplasia 1 +7 more	GBenign
Select item 304333	NM_000280.4(PAX6):c.*2238T>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GBenign/Likely benign
Select item 304334	NM_000280.4(PAX6):c.*2160G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Foveal hypoplasia 1 +7 more	GBenign
Select item 304335	NM_000280.4(PAX6):c.*2159C>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant keratitis +6 more	GConflicting classifications of pathogenicity
Select item 878980	NM_000280.4(PAX6):c.*2087C>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +3 more	GUncertain significance
Select item 880208	NM_000280.4(PAX6):c.*1969A>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +3 more	GUncertain significance
Select item 880209	NM_000280.4(PAX6):c.*1868C>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +3 more	GUncertain significance
Select item 877418	NM_000280.4(PAX6):c.*1839T>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +3 more	GUncertain significance
Select item 304336	NM_000280.4(PAX6):c.*1604A>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Foveal hypoplasia 1 +6 more	GConflicting classifications of pathogenicity
Select item 304337	NM_000280.4(PAX6):c.*1521C>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Foveal hypoplasia 1 +6 more	GUncertain significance
Select item 304338	NM_000280.4(PAX6):c.*1478C>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GBenign/Likely benign
Select item 879034	NM_000280.4(PAX6):c.*1436G>A	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	carboxymethyl-dextran-A2-gadolinium-DOTA +4 more	GBenign/Likely benign
Select item 304339	NM_000280.4(PAX6):c.*1394A>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Foveal hypoplasia 1 +6 more	GUncertain significance
Select item 304340	NM_000280.4(PAX6):c.*1287A>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant keratitis +6 more	GConflicting classifications of pathogenicity
Select item 304341	NM_000280.4(PAX6):c.*1184A>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Foveal hypoplasia 1 +7 more	GBenign
Select item 304342	NM_000280.4(PAX6):c.*1063A>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Foveal hypoplasia 1 +6 more	GBenign
Select item 304343	NM_000280.4(PAX6):c.*1053T>C	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Foveal hypoplasia 1 +6 more	GUncertain significance
Select item 304344	NM_000280.4(PAX6):c.*939A>G	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant)	Foveal hypoplasia 1 +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)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +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)	not provided +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 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 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 +7 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

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