ClinVar for Gene (Select 5080) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3371737	NM_001368894.2(PAX6):c.1024G>T (p.Ala342Ser)	PAX6 (A328S +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3369967	NM_001368909.2(PAX6):c.-268+3906del	PAX6	Deletion (intron variant)	not provided	GUncertain significance
Select item 3350697	NM_001368894.2(PAX6):c.639G>C (p.Glu213Asp)	PAX6 (E132D +8 more)	Single nucleotide variant (missense variant +2 more)	PAX6-related disorder	GUncertain significance
Select item 3346685	NM_001368894.2(PAX6):c.766del (p.Arg256fs)	PAX6 (R106fs +9 more)	Deletion (frameshift variant)	PAX6-related disorder	GPathogenic
Select item 3345681	NM_001368894.2(PAX6):c.193G>C (p.Gly65Arg)	PAX6 (G132R +5 more)	Single nucleotide variant (missense variant +2 more)	PAX6-related disorder	GLikely pathogenic
Select item 3342556	NM_001368894.2(PAX6):c.1094C>A (p.Thr365Asn)	PAX6 (T365N +8 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3340619	NM_001368894.2(PAX6):c.562C>T (p.Gln188Ter)	PAX6 (Q107* +8 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3340403	NM_001368894.2(PAX6):c.97G>C (p.Ala33Pro)	PAX6 (A114P +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 3340402	NM_001368894.2(PAX6):c.107G>C (p.Gly36Ala)	PAX6 (G117A +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely pathogenic
Select item 3340401	NM_001368894.2(PAX6):c.358_368delinsCCCCCCGTT (p.Leu120fs)	PAX6 (L106fs +5 more)	Indel (frameshift variant +3 more)	not provided	GPathogenic
Select item 3337439	NM_001368894.2(PAX6):c.467del (p.Met156fs)	PAX6 (M142fs +8 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3304472	NM_001368894.2(PAX6):c.13C>T (p.His5Tyr)	PAX6 (H6Y +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3253429	NM_001368894.2(PAX6):c.38G>A (p.Gly13Asp)	PAX6 (G13D +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 3244792	NC_000011.9:g.(?_31349644)_(31832375_?)del	DCDC1, DNAJC24 +3 more	Deletion	not provided	GUncertain significance
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 3244583	NC_000011.9:g.(?_31616297)_(31832375_?)dup	ELP4, PAX6	Duplication	Aniridia 1 +1 more	GUncertain significance
Select item 3244582	NC_000011.9:g.(?_31807092)_(31832375_?)del	PAX6	Deletion	Aniridia 1 +1 more	GPathogenic
Select item 3236785	NM_001368894.2(PAX6):c.311A>G (p.Tyr104Cys)	PAX6 (Y104C +5 more)	Single nucleotide variant (missense variant +3 more)	Aniridia 1	GUncertain significance
Select item 3236039	NM_001368894.2(PAX6):c.528dup (p.Tyr177fs)	PAX6 (Y110fs +8 more)	Duplication (frameshift variant +1 more)	Aniridia 1	GPathogenic
Select item 3208983	NM_001368894.2(PAX6):c.18C>A (p.Ser6Arg)	PAX6 (S7R +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3208982	NM_001368894.2(PAX6):c.1173G>A (p.Met391Ile)	PAX6 (M176I +8 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3064412	NM_001368894.2(PAX6):c.1211_1225+1del	PAX6	Deletion (splice donor variant +1 more)	Aniridia 1	GUncertain significance
Select item 3063206	GRCh37/hg19 11p13(chr11:31723662-31986580)x3	ELP4, PAX6	Copy number gain	not specified	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 3061451	NM_001368894.2(PAX6):c.609del (p.Ile204fs)	PAX6 (I123fs +8 more)	Deletion (frameshift variant +2 more)	PAX6-related disorder	GPathogenic
Select item 3045361	NM_001368894.2(PAX6):c.173A>G (p.Asp58Gly)	PAX6 (D58G +2 more)	Single nucleotide variant (missense variant +3 more)	PAX6-related disorder	GUncertain significance
Select item 3043514	NM_001368894.2(PAX6):c.1074+138T>C	PAX6	Single nucleotide variant (synonymous variant +1 more)	PAX6-related disorder	GLikely benign
Select item 3037056	NM_001368894.2(PAX6):c.1074+114C>T	PAX6	Single nucleotide variant (synonymous variant +1 more)	PAX6-related disorder	GLikely benign
Select item 3036407	NM_001368894.2(PAX6):c.1074+140G>A	PAX6 (R391Q)	Single nucleotide variant (missense variant +1 more)	PAX6-related disorder	GUncertain significance
Select item 3024454	NM_001368894.2(PAX6):c.77G>A (p.Arg26Gln)	PAX6 (R26Q +2 more)	Single nucleotide variant (missense variant +3 more)	Aniridia 1	GLikely pathogenic
Select item 3024452	NM_001368894.2(PAX6):c.204T>G (p.Ser68Arg)	PAX6 (S54R +5 more)	Single nucleotide variant (missense variant +3 more)	Coloboma, ocular, autosomal dominant	GPathogenic
Select item 3024451	NM_001368894.2(PAX6):c.202A>C (p.Ser68Arg)	PAX6 (S54R +5 more)	Single nucleotide variant (missense variant +3 more)	Coloboma, ocular, autosomal dominant	GPathogenic
Select item 3024450	NM_001368894.2(PAX6):c.414C>G (p.Asn138Lys)	PAX6 (N124K +7 more)	Single nucleotide variant (missense variant +2 more)	Coloboma, ocular, autosomal dominant	GPathogenic
Select item 3024449	NM_001368894.2(PAX6):c.414C>A (p.Asn138Lys)	PAX6 (N124K +7 more)	Single nucleotide variant (missense variant +2 more)	Coloboma, ocular, autosomal dominant	GPathogenic
Select item 3024448	NM_001368894.2(PAX6):c.809T>C (p.Val270Ala)	PAX6 (V256A +9 more)	Single nucleotide variant (missense variant +1 more)	Coloboma, ocular, autosomal dominant	GPathogenic
Select item 2954102	NM_001368894.2(PAX6):c.109G>C (p.Ala37Pro)	PAX6 (A38P +2 more)	Single nucleotide variant (missense variant +3 more)	Aniridia 1 +1 more	GLikely pathogenic
Select item 2953553	NM_001368894.2(PAX6):c.585A>C (p.Glu195Asp)	PAX6 (E195D +8 more)	Single nucleotide variant (missense variant +2 more)	Aniridia 1 +2 more	GUncertain significance
Select item 2953082	NM_001368894.2(PAX6):c.812G>C (p.Trp271Ser)	PAX6 (W121S +9 more)	Single nucleotide variant (missense variant +1 more)	Aniridia 1 +1 more	GUncertain significance
Select item 2952741	NM_001368894.2(PAX6):c.469dup (p.Tyr157fs)	PAX6 (Y157fs +8 more)	Duplication (frameshift variant +1 more)	Aniridia 1 +1 more	GPathogenic
Select item 2952137	NM_001368894.2(PAX6):c.415A>G (p.Arg139Gly)	PAX6 (R140G +7 more)	Single nucleotide variant (missense variant +2 more)	Aniridia 1 +1 more	GPathogenic
Select item 2951389	NM_001368894.2(PAX6):c.565+17C>T	PAX6	Single nucleotide variant (intron variant)	Aniridia 1 +1 more	GLikely benign
Select item 2951089	NM_001368894.2(PAX6):c.9_10insTACT (p.Ser4delinsTyrTer)	PAX6 (Q37fs)	Insertion (nonsense +4 more)	Aniridia 1 +1 more	GPathogenic
Select item 2951088	NM_001368894.2(PAX6):c.102del (p.His34fs)	PAX6 (H115fs +2 more)	Deletion (5 prime UTR variant +3 more)	Aniridia 1 +1 more	GPathogenic
Select item 2950676	NM_001368894.2(PAX6):c.725-8T>A	PAX6	Single nucleotide variant (intron variant)	Aniridia 1 +1 more	GUncertain significance
Select item 2950549	NM_001368894.2(PAX6):c.194G>A (p.Gly65Glu)	PAX6 (G76E +5 more)	Single nucleotide variant (missense variant +2 more)	Aniridia 1 +1 more	GUncertain significance
Select item 2949750	NM_001368894.2(PAX6):c.124A>C (p.Ile42Leu)	PAX6 (I123L +2 more)	Single nucleotide variant (missense variant +3 more)	Aniridia 1 +1 more	GUncertain significance
Select item 2949032	NM_001368894.2(PAX6):c.643C>A (p.Gln215Lys)	PAX6 (Q148K +8 more)	Single nucleotide variant (missense variant +2 more)	Aniridia 1 +1 more	GUncertain significance
Select item 2948890	NM_001368894.2(PAX6):c.959-3_959-2del	PAX6	Deletion (splice acceptor variant)	Aniridia 1 +1 more	GLikely pathogenic
Select item 2947995	NM_001368894.2(PAX6):c.735A>G (p.Arg245=)	PAX6	Single nucleotide variant (synonymous variant)	Aniridia 1 +1 more	GLikely benign
Select item 2947947	NM_001368894.2(PAX6):c.42C>T (p.Val14=)	PAX6	Single nucleotide variant (synonymous variant +3 more)	Aniridia 1 +1 more	GLikely benign
Select item 2947946	NM_001368894.2(PAX6):c.47del (p.Val16fs)	PAX6 (V17fs +2 more)	Deletion (frameshift variant +3 more)	Aniridia 1 +1 more	GPathogenic
Select item 2947394	NM_001368894.2(PAX6):c.237C>T (p.Ser79=)	PAX6	Single nucleotide variant (synonymous variant +3 more)	Aniridia 1 +1 more	GLikely benign
Select item 2946855	NM_001368894.2(PAX6):c.574C>A (p.Gln192Lys)	PAX6 (Q178K +8 more)	Single nucleotide variant (missense variant +2 more)	Aniridia 1 +1 more	GUncertain significance
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 2945215	NM_001368894.2(PAX6):c.257G>C (p.Gly86Ala)	PAX6 (G72A +5 more)	Single nucleotide variant (missense variant +3 more)	Aniridia 1 +1 more	GUncertain significance
Select item 2944355	NM_001368894.2(PAX6):c.255C>T (p.Ile85=)	PAX6	Single nucleotide variant (synonymous variant +3 more)	Aniridia 1 +1 more	GLikely benign
Select item 2943693	NM_001368894.2(PAX6):c.724+1G>A	PAX6	Single nucleotide variant (splice donor variant)	Aniridia 1 +1 more	GLikely pathogenic
Select item 2942092	NM_001368894.2(PAX6):c.1038dup (p.Pro347fs)	PAX6 (P280fs +9 more)	Duplication (frameshift variant +1 more)	Aniridia 1 +1 more	GPathogenic
Select item 2942049	NM_001368894.2(PAX6):c.274G>C (p.Val92Leu)	PAX6 (V117L +5 more)	Single nucleotide variant (missense variant +3 more)	Aniridia 1 +1 more	GUncertain significance
Select item 2941845	NM_001368894.2(PAX6):c.377G>A (p.Cys126Tyr)	PAX6 (C112Y +5 more)	Single nucleotide variant (missense variant +3 more)	Aniridia 1 +1 more	GUncertain significance
Select item 2941417	NM_001368894.2(PAX6):c.367G>A (p.Glu123Lys)	PAX6 (E124K +5 more)	Single nucleotide variant (missense variant +3 more)	Aniridia 1 +1 more	GUncertain significance
Select item 2940886	NM_001368894.2(PAX6):c.992dup (p.Thr332fs)	PAX6 (T117fs +9 more)	Duplication (frameshift variant +1 more)	Aniridia 1 +1 more	GPathogenic
Select item 2940883	NM_001368894.2(PAX6):c.1075-3C>A	PAX6	Single nucleotide variant (intron variant)	Aniridia 1 +1 more	GLikely benign
Select item 2940725	NM_001368894.2(PAX6):c.184-5T>C	PAX6	Single nucleotide variant (intron variant)	Aniridia 1 +1 more	GLikely benign
Select item 2938939	NM_001368894.2(PAX6):c.10+11C>A	PAX6	Single nucleotide variant (intron variant)	Aniridia 1 +1 more	GLikely benign
Select item 2937422	NM_001368894.2(PAX6):c.808-19T>C	PAX6	Single nucleotide variant (intron variant)	Aniridia 1 +1 more	GLikely benign
Select item 2936611	NM_001368894.2(PAX6):c.11-20T>C	PAX6	Single nucleotide variant (5 prime UTR variant +1 more)	Aniridia 1 +1 more	GLikely benign
Select item 2936426	NM_001368894.2(PAX6):c.33C>T (p.Leu11=)	PAX6	Single nucleotide variant (synonymous variant +3 more)	Aniridia 1 +1 more	GLikely benign
Select item 2936372	NM_001368894.2(PAX6):c.1031C>T (p.Pro344Leu)	PAX6 (P330L +9 more)	Single nucleotide variant (missense variant +1 more)	Aniridia 1 +1 more	GUncertain significance
Select item 2934868	NM_001368894.2(PAX6):c.724+20T>C	PAX6	Single nucleotide variant (intron variant)	Aniridia 1 +1 more	GUncertain significance
Select item 2933414	NM_001368894.2(PAX6):c.1185G>T (p.Met395Ile)	PAX6 (M180I +8 more)	Single nucleotide variant (missense variant +2 more)	Aniridia 1 +1 more	GUncertain significance
Select item 2933344	NM_001368894.2(PAX6):c.58C>T (p.Pro20Ser)	PAX6 (P21S +2 more)	Single nucleotide variant (missense variant +3 more)	Aniridia 1 +1 more	GUncertain significance
Select item 2931697	NM_001368894.2(PAX6):c.808-18G>A	PAX6	Single nucleotide variant (intron variant)	Aniridia 1 +1 more	GLikely benign
Select item 2930384	NM_001368894.2(PAX6):c.1075C>T (p.Pro359Ser)	PAX6 (P345S +8 more)	Single nucleotide variant (missense variant +2 more)	Aniridia 1 +1 more	GUncertain significance
Select item 2930281	NM_001368894.2(PAX6):c.399C>T (p.Ser133=)	PAX6	Single nucleotide variant (synonymous variant +3 more)	Aniridia 1 +1 more	GUncertain significance
Select item 2930163	NM_001368894.2(PAX6):c.724+7G>C	PAX6	Single nucleotide variant (intron variant)	Aniridia 1 +1 more	GLikely benign
Select item 2929355	NM_001368894.2(PAX6):c.593G>T (p.Gly198Val)	PAX6 (G198V +8 more)	Single nucleotide variant (missense variant +2 more)	Aniridia 1 +1 more	GUncertain significance
Select item 2928123	NM_001368894.2(PAX6):c.725-14A>G	PAX6	Single nucleotide variant (intron variant)	Aniridia 1 +1 more	GUncertain significance
Select item 2925471	NM_001368894.2(PAX6):c.44_45del (p.Phe15fs)	PAX6 (F15fs +2 more)	Deletion (frameshift variant +3 more)	Aniridia 1 +1 more	GPathogenic
Select item 2925470	NM_001368894.2(PAX6):c.496C>T (p.Gln166Ter)	PAX6 (Q167* +8 more)	Single nucleotide variant (nonsense +1 more)	Aniridia 1 +1 more	GPathogenic
Select item 2925469	NM_001368894.2(PAX6):c.622G>T (p.Gly208Ter)	PAX6 (G141* +8 more)	Single nucleotide variant (nonsense +2 more)	Aniridia 1 +1 more	GPathogenic
Select item 2923612	NM_001368894.2(PAX6):c.1119C>A (p.Pro373=)	PAX6	Single nucleotide variant (synonymous variant +2 more)	Aniridia 1 +1 more	GLikely benign
Select item 2922392	NM_001368894.2(PAX6):c.591G>A (p.Gly197=)	PAX6	Single nucleotide variant (synonymous variant +2 more)	Aniridia 1 +1 more	GLikely benign
Select item 2922273	NM_001368894.2(PAX6):c.878G>A (p.Ser293Asn)	PAX6 (S360N +9 more)	Single nucleotide variant (missense variant +1 more)	Aniridia 1 +1 more	GUncertain significance
Select item 2921397	NM_001368894.2(PAX6):c.270G>A (p.Pro90=)	PAX6	Single nucleotide variant (intron variant +3 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 2691455	NM_001368894.2(PAX6):c.724+14T>A	PAX6	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2672463	NM_001368894.2(PAX6):c.844_845dup (p.Glu283fs)	PAX6 (E133fs +9 more)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 2641702	NM_001368894.2(PAX6):c.11-753G>A	PAX6 (G84R)	Single nucleotide variant (intron variant +2 more)	not provided	GBenign
Select item 2641701	NM_001368894.2(PAX6):c.295A>G (p.Ser99Gly)	PAX6 (S100G +5 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance

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