Related gene-specific medical variations for Gene (Select 5080) - ClinVar

Links from Gene

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244587	NC_000011.9:g.(?_31809861)_(31814853_?)del	PAX6	Deletion	Aniridia 1 +1 more	GPathogenic
Select item 3244586	NC_000011.9:g.(?_31824327)_(31826319_?)del	PAX6	Deletion	Aniridia 1 +1 more	GLikely pathogenic
Select item 3244582	NC_000011.9:g.(?_31807092)_(31832375_?)del	PAX6	Deletion	Aniridia 1 +1 more	GPathogenic
Select item 3064412	NM_001368894.2(PAX6):c.1211_1225+1del	PAX6	Deletion (splice donor variant +1 more)	Aniridia 1	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 2920693	NM_001368894.2(PAX6):c.400G>A (p.Val134Met)	PAX6 (V159M +7 more)	Single nucleotide variant (missense variant +2 more)	Developmental disorder +1 more	GConflicting classifications of pathogenicity
Select item 2691822	NM_001368894.2(PAX6):c.823dup (p.Arg275fs)	PAX6 (R125fs +9 more)	Duplication (frameshift variant +1 more)	Aniridia 1	GLikely pathogenic
Select item 2691821	NM_001368894.2(PAX6):c.725-2A>G	PAX6	Single nucleotide variant (splice acceptor variant)	Aniridia 1	GLikely pathogenic
Select item 2691820	NM_001368894.2(PAX6):c.399+1_399+2insATAACA	PAX6	Insertion (5 prime UTR variant +2 more)	Aniridia 1	GLikely pathogenic
Select item 2691819	NM_001368894.2(PAX6):c.398del (p.Ser133fs)	PAX6 (S119fs +5 more)	Deletion (frameshift variant +3 more)	Aniridia 1	GLikely pathogenic
Select item 2691818	NM_001368894.2(PAX6):c.140A>T (p.Gln47Leu)	PAX6 (Q128L +2 more)	Single nucleotide variant (missense variant +3 more)	Aniridia 1	GLikely pathogenic
Select item 2691817	NM_001368894.2(PAX6):c.102_103del (p.His34fs)	PAX6 (H115fs +2 more)	Microsatellite (frameshift variant +3 more)	Aniridia 1	GLikely pathogenic
Select item 2691816	NM_001368894.2(PAX6):c.1196del (p.Pro399fs)	PAX6 (P184fs +8 more)	Deletion (frameshift variant +2 more)	Aniridia 1	GLikely pathogenic
Select item 2691815	NM_001368894.2(PAX6):c.850A>T (p.Lys284Ter)	PAX6 (K134* +9 more)	Single nucleotide variant (nonsense +1 more)	Aniridia 1	GLikely pathogenic
Select item 2691814	NM_001368894.2(PAX6):c.49_61del (p.Asn17fs)	PAX6 (N17fs +2 more)	Deletion (frameshift variant +3 more)	Aniridia 1	GLikely pathogenic
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 2442044	NM_001368894.2(PAX6):c.50_60dup (p.Leu21fs)	PAX6 (L102fs +2 more)	Duplication (frameshift variant +3 more)	Aniridia 1	GLikely pathogenic
Select item 2430867	NM_001368894.2(PAX6):c.-284G>A	LOC106014249, PAX6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	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 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 1704149	NM_001368894.2(PAX6):c.-275G>A	LOC106014249, PAX6	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	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 (3 prime UTR 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 1297906	NM_001368894.2(PAX6):c.566-161G>A	LOC106007485, PAX6	Single nucleotide variant (intron variant)	not provided	GBenign
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 1275762	NM_001368894.2(PAX6):c.225del (p.Tyr74_Tyr75insTer)	PAX6	Deletion (nonsense +3 more)	not provided	GPathogenic
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 1216600	NM_001368894.2(PAX6):c.566-173G>T	LOC106007485, PAX6	Single nucleotide variant (intron variant)	not provided	GLikely 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 1201732	NM_001368894.2(PAX6):c.566-146T>A	LOC106007485, PAX6	Single nucleotide variant (intron variant)	not provided	GLikely 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 974854	NM_001368894.2(PAX6):c.11-218_565+80del	PAX6	Deletion (splice acceptor variant +2 more)	Aniridia 1	GPathogenic
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 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 522379	NM_000280.4:c.1267A>T	PAX6	Single nucleotide variant	Isolated optic nerve hypoplasia	GLikely pathogenic
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 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 376755	GRCh37/hg19 11p13(chr11:31820789-31824052)x1	PAX6	Copy number loss	Aniridia 1	GPathogenic
Select item 304369	NM_001368894.2(PAX6):c.-507T>C	LOC106014249, PAX6	Single nucleotide variant (5 prime UTR variant +1 more)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more	GUncertain significance
Select item 304368	NM_001368894.2(PAX6):c.-501del	LOC106014249, PAX6	Deletion (5 prime UTR variant +1 more)	Foveal hypoplasia 1 +6 more	GUncertain significance
Select item 304367	NM_001368894.2(PAX6):c.-430G>C	LOC106014249, PAX6	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal dominant keratitis +6 more	GUncertain significance
Select item 304366	NM_001368894.2(PAX6):c.-368G>A	LOC106014249, PAX6	Single nucleotide variant (5 prime UTR variant +1 more)	Aniridia, Cerebellar Ataxia, And Intellectual Disability +7 more	GConflicting classifications of pathogenicity
Select item 304365	NM_001368894.2(PAX6):c.-316-8C>G	LOC106014249, PAX6	Single nucleotide variant (5 prime UTR variant +2 more)	carboxymethyl-dextran-A2-gadolinium-DOTA +6 more	GConflicting classifications of pathogenicity
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 267193	NC_000011.8:g.31779000_31933000del154001	PAX6	Deletion	Congenital aniridia	GPathogenic
Select item 258167	NM_001368894.2(PAX6):c.1215C>T (p.Thr405=)	PAX6	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 217333	NM_001368894.2(PAX6):c.239T>A (p.Ile80Asn)	PAX6 (I66N +5 more)	Single nucleotide variant (missense variant +3 more)	Developmental cataract	GLikely pathogenic
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 68469	NM_001368894.2(PAX6):c.194G>T (p.Gly65Val)	PAX6 (G51V +5 more)	Single nucleotide variant (missense variant +2 more)	Anterior segment dysgenesis +1 more	GPathogenic/Likely pathogenic
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: 85