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Variants search result for All species
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99 records found for search term Cryaa
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
155265635CV1695781single nucleotide variantNM_000394.4(CRYAA):c.-62G>Anot provided [RCV002280513]likely benign214316903843169038Humanname
11632085CV350768single nucleotide variantNM_000394.4(CRYAA):c.*93T>GCataract 9 multiple types [RCV000398042]|not provided [RCV001618602]benign|likely benign214317237343172373Human1name
28895853CV886883single nucleotide variantNM_000394.4(CRYAA):c.-30C>GCataract 9 multiple types [RCV001141028]uncertain significance214316907043169070Human1name
11651850CV336900single nucleotide variantNM_000394.4(CRYAA):c.*398G>ACataract 9 multiple types [RCV000301494]uncertain significance214317267843172678Human1name
11621899CV336903single nucleotide variantNM_000394.4(CRYAA):c.*485G>ACataract 9 multiple types [RCV000353984]|not provided [RCV004717469]benign|likely benign214317276543172765Human1name
11663634CV346604single nucleotide variantNM_000394.4(CRYAA):c.*193G>ACataract 9 multiple types [RCV000398052]uncertain significance214317247343172473Human1name
11626239CV346609single nucleotide variantNM_000394.4(CRYAA):c.*507C>GCataract 9 multiple types [RCV000260382]|not provided [RCV004717470]benign|likely benign214317278743172787Human1name
11628729CV350770single nucleotide variantNM_000394.4(CRYAA):c.*102T>CCataract 9 multiple types [RCV000308424]|not provided [RCV004703848]likely benign|uncertain significance214317238243172382Human1name
11630836CV350771single nucleotide variantNM_000394.4(CRYAA):c.*103C>TCataract 9 multiple types [RCV000360768]|not provided [RCV004703849]likely benign|uncertain significance214317238343172383Human1name
11659604CV350773single nucleotide variantNM_000394.4(CRYAA):c.*333G>ACataract 9 multiple types [RCV000359742]uncertain significance214317261343172613Human1name
11652015CV351816single nucleotide variantNM_000394.4(CRYAA):c.*253C>TCataract 9 multiple types [RCV000302481]uncertain significance214317253343172533Human1name
11644898CV351822single nucleotide variantNM_000394.4(CRYAA):c.*376G>CCataract 9 multiple types [RCV000262619]uncertain significance214317265643172656Human1name
28887583CV886888single nucleotide variantNM_000394.4(CRYAA):c.*156T>GCataract 9 multiple types [RCV001138139]uncertain significance214317243643172436Human1name
28889047CV886889single nucleotide variantNM_000394.4(CRYAA):c.*380G>ACataract 9 multiple types [RCV001138572]uncertain significance214317266043172660Human1name
150417638CV1181924single nucleotide variantNM_000394.4(CRYAA):c.189+33C>Tnot provided [RCV001550224]likely benign214316932143169321Humanname
150416235CV1199285single nucleotide variantNM_000394.4(CRYAA):c.189+71G>Cnot provided [RCV001575742]likely benign214316935943169359Humanname
150487367CV1283804single nucleotide variantNM_000394.4(CRYAA):c.313-41G>Anot provided [RCV001715940]benign214317203043172030Humanname
152052342CV1531609single nucleotide variantNM_000394.4(CRYAA):c.189+14C>TCataract 9 multiple types [RCV002072535]likely benign214316930243169302Human1name
152048754CV1615036single nucleotide variantNM_000394.4(CRYAA):c.189+15G>ACataract 9 multiple types [RCV002088874]likely benign214316930343169303Human1name
597878597CV3813708single nucleotide variantNM_000394.4(CRYAA):c.313-18C>TCataract 9 multiple types [RCV005149450]likely benign214317205343172053Human1name
597958359CV3814812single nucleotide variantNM_000394.4(CRYAA):c.312+17A>GCataract 9 multiple types [RCV005162937]likely benign214317065643170656Human1name
150488689CV1208295single nucleotide variantNM_000394.4(CRYAA):c.313-285G>Tnot provided [RCV001592155]likely benign214317178643171786Humanname
150453827CV1219889single nucleotide variantNM_000394.4(CRYAA):c.190-261C>Tnot provided [RCV001612270]benign214317025643170256Humanname
150490703CV1239160single nucleotide variantNM_000394.4(CRYAA):c.189+171C>Tnot provided [RCV001654728]benign214316945943169459Humanname
150493008CV1257466single nucleotide variantNM_000394.4(CRYAA):c.312+172G>Anot provided [RCV001675139]benign214317081143170811Humanname
150481018CV1279642single nucleotide variantNM_000394.4(CRYAA):c.313-283G>Cnot provided [RCV001714762]benign214317178843171788Humanname
152980648CV1678821single nucleotide variantNM_000394.4(CRYAA):c.189+124C>Tnot provided [RCV002247216]likely benign214316941243169412Humanname
401726285CV2736103single nucleotide variantNM_000394.4(CRYAA):c.190-150G>Anot provided [RCV003312549]likely benign214317036743170367Humanname
11542889CV257472single nucleotide variantNM_000394.4(CRYAA):c.6C>T (p.Asp2=)Cataract 9 multiple types [RCV000264346]|not provided [RCV000833046]|not specified [RCV000241735]benign214316910543169105Human1name
405172855CV3150084deletionNM_000394.4(CRYAA):c.190-24_190-10delCataract 9 multiple types [RCV003841555]uncertain significance214317049243170506Human1name
13499489CV469654single nucleotide variantNM_000394.4(CRYAA):c.54C>T (p.Tyr18=)Cataract 9 multiple types [RCV000533023]benign214316915343169153Human1name
15136139CV689258single nucleotide variantNM_000394.4(CRYAA):c.81C>T (p.Phe27=)not provided [RCV000864442]likely benign214316918043169180Humanname
127333969CV1149816single nucleotide variantNM_000394.4(CRYAA):c.111G>A (p.Leu37=)Cataract 9 multiple types [RCV001490514]likely benign214316921043169210Human1name
127287068CV1149817single nucleotide variantNM_000394.4(CRYAA):c.198C>T (p.Ser66=)Cataract 9 multiple types [RCV001494712]|not provided [RCV004704622]likely benign214317052543170525Human1name
156036646CV1918281single nucleotide variantNM_000394.4(CRYAA):c.213C>T (p.Phe71=)CRYAA-related disorder [RCV004757566]|not provided [RCV005098924]benign|likely benign214317054043170540Human1name , trait , alternate_id
156032183CV2029827single nucleotide variantNM_000394.4(CRYAA):c.249G>A (p.Glu83=)Cataract 9 multiple types [RCV002735852]likely benign214317057643170576Human1name
156153049CV2121621single nucleotide variantNM_000394.4(CRYAA):c.291C>T (p.His97=)Cataract 9 multiple types [RCV002928966]likely benign214317061843170618Human1name
156030193CV2125442single nucleotide variantNM_000394.4(CRYAA):c.159C>T (p.Phe53=)Cataract 9 multiple types [RCV002949193]likely benign214316925843169258Human1name
405128842CV2907425single nucleotide variantNM_000394.4(CRYAA):c.225C>T (p.Leu75=)Cataract 9 multiple types [RCV003501919]likely benign214317055243170552Human1name
405272884CV3197493single nucleotide variantNM_000394.4(CRYAA):c.285G>A (p.Glu95=)CRYAA-related disorder [RCV003901462]likely benign214317061243170612Humanname , trait , alternate_id
8565936CV31997single nucleotide variantNM_000394.4(CRYAA):c.27G>A (p.Trp9Ter)Cataract 9, autosomal recessive [RCV000018471]|not provided [RCV001547991]pathogenic|likely pathogenic214316912643169126Human1name
11627424CV351811single nucleotide variantNM_000394.4(CRYAA):c.246G>A (p.Pro82=)Cataract 9 multiple types [RCV000552411]|not provided [RCV004717468]benign|likely benign214317057343170573Human1name
597975592CV3799234single nucleotide variantNM_000394.4(CRYAA):c.258C>T (p.Thr86=)Cataract 9 multiple types [RCV005144630]likely benign214317058543170585Human1name
127294510CV1128845single nucleotide variantNM_000394.4(CRYAA):c.486G>A (p.Ser162=)Cataract 9 multiple types [RCV001476837]likely benign214317224443172244Human1name
151710566CV1365553single nucleotide variantNM_000394.4(CRYAA):c.35G>A (p.Arg12His)Cataract 9 multiple types [RCV001907910]uncertain significance214316913443169134Human1name
151838275CV1445355single nucleotide variantNM_000394.4(CRYAA):c.75G>C (p.Gln25His)Cataract 9 multiple types [RCV001994428]uncertain significance214316917443169174Human1name
11547028CV257473single nucleotide variantNM_000394.4(CRYAA):c.327C>T (p.Tyr109=)Cataract 9 multiple types [RCV000864627]|not provided [RCV001731546]|not specified [RCV000247226]benign|likely benign214317208543172085Human1name
11550609CV257474single nucleotide variantNM_000394.4(CRYAA):c.444T>A (p.Thr148=)Cataract 9 multiple types [RCV000527530]|not provided [RCV000828282]|not specified [RCV000251982]benign|likely benign214317220243172202Human1name
401731305CV2674329single nucleotide variantNM_000394.4(CRYAA):c.50T>C (p.Phe17Ser)Cataract 9 multiple types [RCV003500821]|not specified [RCV004289205]uncertain significance214316914943169149Human1name
405126716CV2894148single nucleotide variantNM_000394.4(CRYAA):c.303C>T (p.Asn101=)Cataract 9 multiple types [RCV003501651]|not specified [RCV004614466]likely benign214317063043170630Human1name
405267395CV3219287single nucleotide variantNM_000394.4(CRYAA):c.315C>T (p.Asp105=)CRYAA-related disorder [RCV003969547]likely benign214317207343172073Humanname , trait , alternate_id
405675735CV3239148single nucleotide variantNM_000394.4(CRYAA):c.70G>A (p.Asp24Asn)not specified [RCV004370030]uncertain significance214316916943169169Humanname
11628152CV350766single nucleotide variantNM_000394.4(CRYAA):c.369C>T (p.Asn123=)Developmental cataract [RCV000296504]uncertain significance214317212743172127Human2name
597861127CV3748747single nucleotide variantNM_000394.4(CRYAA):c.390T>A (p.Ser130=)Cataract 9 multiple types [RCV005067379]likely benign214317214843172148Human1name
597961604CV3840787single nucleotide variantNM_000394.4(CRYAA):c.447C>T (p.Gly149=)Cataract 9 multiple types [RCV005193080]likely benign214317220543172205Human1name
13613416CV533904single nucleotide variantNM_000394.4(CRYAA):c.324C>T (p.Gly108=)Cataract 9 multiple types [RCV000642680]|not provided [RCV004717698]benign214317208243172082Human1name
15184978CV773364single nucleotide variantNM_000394.4(CRYAA):c.321C>T (p.His107=)not provided [RCV000930935]likely benign214317207943172079Humanname
8573597CV79351single nucleotide variantNM_000394.4(CRYAA):c.34C>T (p.Arg12Cys)Abnormality of the eye [RCV001814044]|Cataract 9 multiple types [RCV000810953]|Cataract 9, multiple types, with microcornea [RCV000059328]|Developmental cataract [RCV001775004]|not provided [RCV001530045]pathogenic|likely pathogenic214316913343169133Human6name
8573598CV79352single nucleotide variantNM_000394.4(CRYAA):c.61C>T (p.Arg21Trp)CRYAA-related disorder [RCV004757125]|Cataract 9 multiple types [RCV000995748]|Cataract 9, multiple types, with microcornea [RCV000059329]|Developmental cataract [RCV000203310]|not provided [RCV001582557]pathogenic|likely pathogenic214316916043169160Human4name , trait , alternate_id
8573599CV79353single nucleotide variantNM_000394.4(CRYAA):c.62G>A (p.Arg21Gln)Cataract 9 multiple types [RCV000059330]pathogenic214316916143169161Human1name
10766566CV213999single nucleotide variantNM_000394.4(CRYAA):c.142T>G (p.Tyr48Asp)Developmental cataract [RCV000203376]likely pathogenic214316924143169241Human2name
156172246CV2194218single nucleotide variantNM_000394.4(CRYAA):c.166G>A (p.Val56Met)Cataract 9 multiple types [RCV004820930]|not specified [RCV004079343]uncertain significance214316926543169265Human1name
155962281CV2200938single nucleotide variantNM_000394.4(CRYAA):c.133A>G (p.Ser45Gly)not specified [RCV004081551]uncertain significance214316923243169232Humanname
12912034CV247357deletionNM_000394.4(CRYAA):c.440del (p.Gln147fs)Cataract 9 multiple types [RCV001857842]|Developmental cataract [RCV000490785]|not provided [RCV002461043]likely pathogenic|uncertain significance214317219843172198Human4name
404977264CV2738987single nucleotide variantNM_000394.4(CRYAA):c.161G>C (p.Arg54Pro)Cataract 9 multiple types [RCV003485870]pathogenic|conflicting interpretations of pathogenicity214316926043169260Human1name
401863138CV2779204single nucleotide variantNM_000394.4(CRYAA):c.196T>G (p.Ser66Ala)not specified [RCV004349108]uncertain significance214317052343170523Humanname
401944639CV2840410single nucleotide variantNM_000394.4(CRYAA):c.245C>G (p.Pro82Arg)not provided [RCV003457342]uncertain significance214317057243170572Humanname
8565937CV31998single nucleotide variantNM_000394.4(CRYAA):c.145C>T (p.Arg49Cys)Cataract 9 multiple types [RCV000018472]pathogenic214316924443169244Human1name
11654419CV336890single nucleotide variantNM_000394.4(CRYAA):c.269A>C (p.Gln90Pro)Cataract 9 multiple types [RCV000317580]uncertain significance214317059643170596Human1name
11631293CV346592single nucleotide variantNM_000394.4(CRYAA):c.245C>T (p.Pro82Leu)Cataract 9 multiple types [RCV000374067]uncertain significance214317057243170572Human1name
11629355CV351810single nucleotide variantNM_000394.4(CRYAA):c.154C>T (p.Leu52Phe)CRYAA-related disorder [RCV003950179]|Cataract 9 multiple types [RCV000642679]|not provided [RCV001590993]likely benign|conflicting interpretations of pathogenicity|uncertain significance214316925343169253Human1name , trait , alternate_id
598216285CV3895167single nucleotide variantNM_000394.4(CRYAA):c.239T>C (p.Phe80Ser)Cataract 9 multiple types [RCV005360083]uncertain significance214317056643170566Human1name
8573595CV79348single nucleotide variantNM_000394.4(CRYAA):c.292G>A (p.Gly98Arg)Cataract 9 multiple types [RCV000059325]pathogenic214317061943170619Human1name
8573596CV79349single nucleotide variantNM_000394.4(CRYAA):c.160C>T (p.Arg54Cys)Cataract 9 multiple types [RCV000059326]|Developmental cataract [RCV000490766]pathogenic214316925943169259Human4name
21068209CV798028single nucleotide variantNM_000394.4(CRYAA):c.146G>A (p.Arg49His)not provided [RCV000997831]uncertain significance214316924543169245Humanname
21068211CV798029single nucleotide variantNM_000394.4(CRYAA):c.202C>T (p.Arg68Trp)CRYAA-related disorder [RCV003943307]|Cataract 9 multiple types [RCV001342891]|not provided [RCV000997832]|not specified [RCV004030226]uncertain significance214317052943170529Human1name , trait , alternate_id
26904754CV848821single nucleotide variantNM_000394.4(CRYAA):c.199G>C (p.Asp67His)Cataract 9 multiple types [RCV001071058]uncertain significance214317052643170526Human1name
151883654CV1338069single nucleotide variantNM_000394.4(CRYAA):c.508G>A (p.Ala170Thr)Cataract 9 multiple types [RCV001962177]uncertain significance214317226643172266Human1name
156301294CV1929713single nucleotide variantNM_000394.4(CRYAA):c.506C>T (p.Ser169Leu)Cataract 9 multiple types [RCV002647653]uncertain significance214317226443172264Human1name
156155892CV2314338single nucleotide variantNM_000394.4(CRYAA):c.380C>T (p.Ser127Leu)not specified [RCV004166681]uncertain significance214317213843172138Humanname
156239354CV2356339single nucleotide variantNM_000394.4(CRYAA):c.514T>C (p.Ser172Pro)Cataract 9 multiple types [RCV003500804]|not specified [RCV004206144]uncertain significance214317227243172272Human1name
401891318CV2768997single nucleotide variantNM_000394.4(CRYAA):c.409G>A (p.Gly137Ser)not specified [RCV004348871]uncertain significance214317216743172167Humanname
8565935CV31996single nucleotide variantNM_000394.4(CRYAA):c.346C>T (p.Arg116Cys)Cataract 9 multiple types [RCV000018469]|not provided [RCV001091467]pathogenic214317210443172104Human1name
8565938CV31999single nucleotide variantNM_000394.4(CRYAA):c.347G>A (p.Arg116His)CRYAA-related disorder [RCV004730849]|Cataract 9 multiple types [RCV000059327]|Cataract 9, multiple types, with microcornea [RCV000018473]|not provided [RCV000483566]pathogenic214317210543172105Human2name , trait , alternate_id
407464426CV3429764single nucleotide variantNM_000394.4(CRYAA):c.494A>G (p.Glu165Gly)not specified [RCV004613451]uncertain significance214317225243172252Humanname
11627900CV346594single nucleotide variantNM_000394.4(CRYAA):c.464C>A (p.Ala155Asp)Cataract 9 multiple types [RCV000290409]|not specified [RCV004021849]uncertain significance214317222243172222Human1name
11658428CV351813single nucleotide variantNM_000394.4(CRYAA):c.375C>A (p.Asp125Glu)Cataract 9 multiple types [RCV000349040]uncertain significance214317213343172133Human1name
11658258CV351815single nucleotide variantNM_000394.4(CRYAA):c.488G>A (p.Arg163Gln)Cataract 9 multiple types [RCV000347731]uncertain significance214317224643172246Human1name
597937787CV3774757single nucleotide variantNM_000394.4(CRYAA):c.318C>A (p.Asp106Glu)Cataract 9 multiple types [RCV005117790]uncertain significance214317207643172076Human1name
597933610CV3844659single nucleotide variantNM_000394.4(CRYAA):c.466G>A (p.Glu156Lys)Cataract 9 multiple types [RCV005186165]uncertain significance214317222443172224Human1name
597935657CV3863775single nucleotide variantNM_000394.4(CRYAA):c.347G>T (p.Arg116Leu)Cataract 9 multiple types [RCV005207586]likely pathogenic214317210543172105Human1name
13531987CV512494single nucleotide variantNM_000394.4(CRYAA):c.346C>A (p.Arg116Ser)Inborn genetic diseases [RCV000623807]|not provided [RCV003457728]pathogenic214317210443172104Human1name
28900712CV886884single nucleotide variantNM_000394.4(CRYAA):c.335G>A (p.Arg112His)Cataract 9 multiple types [RCV001142884]|not provided [RCV002070715]uncertain significance214317209343172093Human1name
28900716CV886885single nucleotide variantNM_000394.4(CRYAA):c.349C>T (p.Arg117Cys)Cataract 9 multiple types [RCV001142885]uncertain significance214317210743172107Human1name
28900719CV886886single nucleotide variantNM_000394.4(CRYAA):c.355C>T (p.Arg119Cys)Cataract 9 multiple types [RCV001142886]|not provided [RCV004768874]uncertain significance214317211343172113Human1name
28900723CV886887single nucleotide variantNM_000394.4(CRYAA):c.481G>A (p.Val161Met)Cataract 9 multiple types [RCV001142887]uncertain significance214317223943172239Human1name
151883528CV1452395duplicationNM_000394.4(CRYAA):c.322_327dup (p.Gly108_Tyr109dup)Cataract 9 multiple types [RCV002037359]uncertain significance214317207743172078Human1name
408367668CV3512086single nucleotide variantNM_001314050.5(LOC102724652):c.225C>T (p.Leu75=)CRYAA2-related condition [RCV004759120]likely benign2165622366562236Humantrait
408367854CV3517719single nucleotide variantNM_001314050.5(LOC102724652):c.190-193C>TCRYAA2-related condition [RCV004759272]likely benign2165620086562008Humantrait