NM_006891.4(CRYGD):c.356A>G (p.Asn119Ser) |
single nucleotide variant |
Aculeiform cataract [RCV001907672] |
Chr2:208121842 [GRCh38] Chr2:208986566 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_020989.4(CRYGC):c.252+191C>T |
single nucleotide variant |
not provided [RCV001574737] |
Chr2:208129250 [GRCh38] Chr2:208993974 [GRCh37] Chr2:2q33.3 |
likely benign |
NM_020989.4(CRYGC):c.252+120A>C |
single nucleotide variant |
not provided [RCV001667202] |
Chr2:208129321 [GRCh38] Chr2:208994045 [GRCh37] Chr2:2q33.3 |
benign |
NM_006891.4(CRYGD):c.253-170T>C |
single nucleotide variant |
not provided [RCV001680477] |
Chr2:208122115 [GRCh38] Chr2:208986839 [GRCh37] Chr2:2q33.3 |
benign |
NC_000002.12:g.208127913A>G |
single nucleotide variant |
not provided [RCV001583885] |
Chr2:208127913 [GRCh38] Chr2:208992637 [GRCh37] Chr2:2q33.3 |
likely benign |
NM_005210.4(CRYGB):c.9+12G>A |
single nucleotide variant |
not provided [RCV001612092] |
Chr2:208146100 [GRCh38] Chr2:209010824 [GRCh37] Chr2:2q33.3 |
benign |
NC_000002.12:g.208124868A>G |
single nucleotide variant |
not provided [RCV001560943] |
Chr2:208124868 [GRCh38] Chr2:208989592 [GRCh37] Chr2:2q33.3 |
likely benign |
NC_000002.12:g.208124828T>C |
single nucleotide variant |
not provided [RCV001688625] |
Chr2:208124828 [GRCh38] Chr2:208989552 [GRCh37] Chr2:2q33.3 |
benign |
NC_000002.12:g.208146403T>C |
single nucleotide variant |
not provided [RCV001616502] |
Chr2:208146403 [GRCh38] Chr2:209011127 [GRCh37] Chr2:2q33.3 |
benign |
NM_020989.4(CRYGC):c.424C>G (p.Arg142Gly) |
single nucleotide variant |
not provided [RCV001565437] |
Chr2:208128304 [GRCh38] Chr2:208993028 [GRCh37] Chr2:2q33.3 |
likely pathogenic |
NM_006891.4(CRYGD):c.253-266T>C |
single nucleotide variant |
not provided [RCV001676453] |
Chr2:208122211 [GRCh38] Chr2:208986935 [GRCh37] Chr2:2q33.3 |
benign |
NM_005210.4(CRYGB):c.252+63dup |
duplication |
not provided [RCV001671990] |
Chr2:208145688..208145689 [GRCh38] Chr2:209010412..209010413 [GRCh37] Chr2:2q33.3 |
benign |
NM_005210.4(CRYGB):c.252+229A>G |
single nucleotide variant |
not provided [RCV001635670] |
Chr2:208145545 [GRCh38] Chr2:209010269 [GRCh37] Chr2:2q33.3 |
benign |
NM_006891.4(CRYGD):c.-44_-23del |
deletion |
not provided [RCV001641193] |
Chr2:208124496..208124517 [GRCh38] Chr2:208989220..208989241 [GRCh37] Chr2:2q33.3 |
benign |
NM_006891.4(CRYGD):c.253-169G>T |
single nucleotide variant |
not provided [RCV001686028] |
Chr2:208122114 [GRCh38] Chr2:208986838 [GRCh37] Chr2:2q33.3 |
benign |
NM_020989.4(CRYGC):c.252+135T>C |
single nucleotide variant |
not provided [RCV001588527] |
Chr2:208129306 [GRCh38] Chr2:208994030 [GRCh37] Chr2:2q33.3 |
likely benign |
NM_005210.4(CRYGB):c.9+13T>A |
single nucleotide variant |
not provided [RCV001651777] |
Chr2:208146099 [GRCh38] Chr2:209010823 [GRCh37] Chr2:2q33.3 |
benign |
NM_005210.4(CRYGB):c.252+85del |
deletion |
not provided [RCV001665834] |
Chr2:208145689 [GRCh38] Chr2:209010413 [GRCh37] Chr2:2q33.3 |
benign |
NM_020989.4(CRYGC):c.252+217A>G |
single nucleotide variant |
not provided [RCV001588764] |
Chr2:208129224 [GRCh38] Chr2:208993948 [GRCh37] Chr2:2q33.3 |
likely benign |
NM_006891.4(CRYGD):c.9+20C>G |
single nucleotide variant |
Aculeiform cataract [RCV002073144]|not provided [RCV001671401] |
Chr2:208124445 [GRCh38] Chr2:208989169 [GRCh37] Chr2:2q33.3 |
benign |
NM_005210.4(CRYGB):c.9+11G>A |
single nucleotide variant |
not provided [RCV001650131] |
Chr2:208146101 [GRCh38] Chr2:209010825 [GRCh37] Chr2:2q33.3 |
benign |
NM_005210.4(CRYGB):c.-28C>A |
single nucleotide variant |
not provided [RCV001708476] |
Chr2:208146148 [GRCh38] Chr2:209010872 [GRCh37] Chr2:2q33.3 |
benign |
NM_005210.4(CRYGB):c.253-156T>C |
single nucleotide variant |
not provided [RCV001696417] |
Chr2:208143069 [GRCh38] Chr2:209007793 [GRCh37] Chr2:2q33.3 |
benign |
NC_000002.12:g.208130125T>C |
single nucleotide variant |
not provided [RCV001691448] |
Chr2:208130125 [GRCh38] Chr2:208994849 [GRCh37] Chr2:2q33.3 |
benign |
NM_020989.4(CRYGC):c.252+335T>C |
single nucleotide variant |
not provided [RCV001641826] |
Chr2:208129106 [GRCh38] Chr2:208993830 [GRCh37] Chr2:2q33.3 |
benign |
NC_000002.12:g.208129973C>T |
single nucleotide variant |
not provided [RCV001713510] |
Chr2:208129973 [GRCh38] Chr2:208994697 [GRCh37] Chr2:2q33.3 |
benign |
NC_000002.12:g.208146290G>T |
single nucleotide variant |
not provided [RCV001696494] |
Chr2:208146290 [GRCh38] Chr2:209011014 [GRCh37] Chr2:2q33.3 |
benign |
NM_006891.4(CRYGD):c.*12T>C |
single nucleotide variant |
Cataract 4 multiple types [RCV000274487]|not provided [RCV001660299]|not specified [RCV000245372] |
Chr2:208121661 [GRCh38] Chr2:208986385 [GRCh37] Chr2:2q33.3 |
benign |
NM_006891.4(CRYGD):c.22_26delinsCCTTGCAGATCAC (p.Glu8fs) |
indel |
Aculeiform cataract [RCV002526155] |
Chr2:208124338..208124342 [GRCh38] Chr2:208989062..208989066 [GRCh37] Chr2:2q33.3 |
pathogenic|uncertain significance |
GRCh38/hg38 2q33.3-34(chr2:207058886-211245603)x1 |
copy number loss |
See cases [RCV000139325] |
Chr2:207058886..211245603 [GRCh38] Chr2:207923610..212110328 [GRCh37] Chr2:207631855..211818573 [NCBI36] Chr2:2q33.3-34 |
pathogenic |
NM_006891.4(CRYGD):c.285A>G (p.Arg95=) |
single nucleotide variant |
Aculeiform cataract [RCV001513772]|Cataract 4 multiple types [RCV000380516]|not provided [RCV000837466]|not specified [RCV000254068] |
Chr2:208121913 [GRCh38] Chr2:208986637 [GRCh37] Chr2:2q33.3 |
benign |
NM_020989.4(CRYGC):c.155A>C (p.Gln52Pro) |
single nucleotide variant |
Nuclear pulverulent cataract [RCV002231807] |
Chr2:208129538 [GRCh38] Chr2:208994262 [GRCh37] Chr2:2q33.3 |
uncertain significance |
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 |
copy number gain |
See cases [RCV000052958] |
Chr2:188818195..242065208 [GRCh38] Chr2:189682921..243007359 [GRCh37] Chr2:189391166..242656032 [NCBI36] Chr2:2q32.2-37.3 |
pathogenic |
NM_006891.3(CRYGD):c.-77T>C |
single nucleotide variant |
Cataract [RCV000311085] |
Chr2:208124550 [GRCh38] Chr2:208989274 [GRCh37] Chr2:2q33.3 |
likely benign |
NM_020989.4(CRYGC):c.328_329delinsT (p.Pro110fs) |
indel |
Developmental cataract [RCV000203369] |
Chr2:208128399..208128400 [GRCh38] Chr2:208993123..208993124 [GRCh37] Chr2:2q33.3 |
pathogenic |
NM_006891.4(CRYGD):c.448dup (p.Asp150fs) |
duplication |
Developmental cataract [RCV000203375] |
Chr2:208121749..208121750 [GRCh38] Chr2:208986473..208986474 [GRCh37] Chr2:2q33.3 |
pathogenic|likely pathogenic |
NM_006891.3(CRYGD):c.-80A>C |
single nucleotide variant |
Cataract [RCV000365936] |
Chr2:208124553 [GRCh38] Chr2:208989277 [GRCh37] Chr2:2q33.3 |
uncertain significance |
GRCh38/hg38 2q33.3-34(chr2:204906843-210031449)x1 |
copy number loss |
See cases [RCV000139629] |
Chr2:204906843..210031449 [GRCh38] Chr2:205771566..210896173 [GRCh37] Chr2:205479811..210604418 [NCBI36] Chr2:2q33.3-34 |
pathogenic |
NM_006891.4(CRYGD):c.-39C>T |
single nucleotide variant |
Cataract 4 multiple types [RCV000369348] |
Chr2:208124512 [GRCh38] Chr2:208989236 [GRCh37] Chr2:2q33.3 |
benign|likely benign |
NM_005210.4(CRYGB):c.331A>C (p.Ile111Leu) |
single nucleotide variant |
Cataract 39 multiple types [RCV001513774]|not provided [RCV000836666] |
Chr2:208142835 [GRCh38] Chr2:209007559 [GRCh37] Chr2:2q33.3 |
benign |
NM_020989.4(CRYGC):c.385G>T (p.Gly129Cys) |
single nucleotide variant |
Cataract 2, multiple types [RCV000056311] |
Chr2:208128343 [GRCh38] Chr2:208993067 [GRCh37] Chr2:2q33.3 |
pathogenic |
NM_006891.4(CRYGD):c.252+7A>G |
single nucleotide variant |
Cataract 4 multiple types [RCV000403355]|not provided [RCV000876651] |
Chr2:208124105 [GRCh38] Chr2:208988829 [GRCh37] Chr2:2q33.3 |
benign|likely benign |
NM_006891.4(CRYGD):c.9+20C>T |
single nucleotide variant |
Aculeiform cataract [RCV002058216]|not specified [RCV000250615] |
Chr2:208124445 [GRCh38] Chr2:208989169 [GRCh37] Chr2:2q33.3 |
benign |
NM_020989.4(CRYGC):c.13A>C (p.Thr5Pro) |
single nucleotide variant |
Cataract 2, Coppock-like [RCV000018452] |
Chr2:208129680 [GRCh38] Chr2:208994404 [GRCh37] Chr2:2q33.3 |
pathogenic |
NM_006891.4(CRYGD):c.418C>T (p.Arg140Ter) |
single nucleotide variant |
Aculeiform cataract [RCV002233615]|Cataract 4 multiple types [RCV000695895]|Inborn genetic diseases [RCV003279010] |
Chr2:208121780 [GRCh38] Chr2:208986504 [GRCh37] Chr2:2q33.3 |
pathogenic |
NM_006891.4(CRYGD):c.43C>T (p.Arg15Cys) |
single nucleotide variant |
Aculeiform cataract [RCV000803517]|Cataract 4 multiple types [RCV000018445]|not provided [RCV003328551] |
Chr2:208124321 [GRCh38] Chr2:208989045 [GRCh37] Chr2:2q33.3 |
pathogenic |
NM_006891.4(CRYGD):c.44G>A (p.Arg15His) |
single nucleotide variant |
Aculeiform cataract [RCV001045225] |
Chr2:208124320 [GRCh38] Chr2:208989044 [GRCh37] Chr2:2q33.3 |
benign|uncertain significance |
NM_006891.4(CRYGD):c.130A>G (p.Met44Val) |
single nucleotide variant |
Aculeiform cataract [RCV000555485]|Cataract 4 multiple types [RCV000335668]|not provided [RCV001653619] |
Chr2:208124234 [GRCh38] Chr2:208988958 [GRCh37] Chr2:2q33.3 |
benign|likely benign |
NM_020989.4(CRYGC):c.427C>T (p.Gln143Ter) |
single nucleotide variant |
not provided [RCV000493023] |
Chr2:208128301 [GRCh38] Chr2:208993025 [GRCh37] Chr2:2q33.3 |
pathogenic |
NM_005210.4(CRYGB):c.44G>A (p.Arg15His) |
single nucleotide variant |
Cataract 39 multiple types [RCV000694254] |
Chr2:208145982 [GRCh38] Chr2:209010706 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_020989.4(CRYGC):c.52G>A (p.Glu18Lys) |
single nucleotide variant |
Nuclear pulverulent cataract [RCV001219626] |
Chr2:208129641 [GRCh38] Chr2:208994365 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_006891.4(CRYGD):c.134T>C (p.Leu45Pro) |
single nucleotide variant |
not provided [RCV000171329] |
Chr2:208124230 [GRCh38] Chr2:208988954 [GRCh37] Chr2:2q33.3 |
likely pathogenic |
NM_006891.4(CRYGD):c.118A>T (p.Ser40Cys) |
single nucleotide variant |
not provided [RCV000521006] |
Chr2:208124246 [GRCh38] Chr2:208988970 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_020989.4(CRYGC):c.10-10T>C |
single nucleotide variant |
Nuclear pulverulent cataract [RCV002231806] |
Chr2:208129693 [GRCh38] Chr2:208994417 [GRCh37] Chr2:2q33.3 |
benign |
NM_020989.4(CRYGC):c.502C>T (p.Arg168Trp) |
single nucleotide variant |
Cataract 2, multiple types [RCV000018454]|Nuclear pulverulent cataract [RCV001313043] |
Chr2:208128226 [GRCh38] Chr2:208992950 [GRCh37] Chr2:2q33.3 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_006891.4(CRYGD):c.51T>C (p.Tyr17=) |
single nucleotide variant |
Aculeiform cataract [RCV001513773]|Cataract 4 multiple types [RCV000397516]|not provided [RCV000836482]|not specified [RCV000245673] |
Chr2:208124313 [GRCh38] Chr2:208989037 [GRCh37] Chr2:2q33.3 |
benign |
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 |
copy number gain |
See cases [RCV000052959] |
Chr2:190310736..241892770 [GRCh38] Chr2:191175462..242834921 [GRCh37] Chr2:190883707..242483594 [NCBI36] Chr2:2q32.2-37.3 |
pathogenic |
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 |
copy number gain |
See cases [RCV000142307] |
Chr2:189436149..241841232 [GRCh38] Chr2:190300875..242783384 [GRCh37] Chr2:190009120..242432057 [NCBI36] Chr2:2q32.2-37.3 |
pathogenic |
NM_020989.4(CRYGC):c.470G>A (p.Trp157Ter) |
single nucleotide variant |
Cataract 2, multiple types [RCV000056309]|not provided [RCV000760444] |
Chr2:208128258 [GRCh38] Chr2:208992982 [GRCh37] Chr2:2q33.3 |
pathogenic |
NM_020989.4(CRYGC):c.471G>A (p.Trp157Ter) |
single nucleotide variant |
Cataract 2, multiple types [RCV000056310] |
Chr2:208128257 [GRCh38] Chr2:208992981 [GRCh37] Chr2:2q33.3 |
pathogenic |
GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1 |
copy number loss |
See cases [RCV000143301] |
Chr2:199937273..210031924 [GRCh38] Chr2:200801996..210896648 [GRCh37] Chr2:200510241..210604893 [NCBI36] Chr2:2q33.1-34 |
pathogenic |
NM_006891.4(CRYGD):c.189T>C (p.Tyr63=) |
single nucleotide variant |
Cataract 4 multiple types [RCV001142143]|not specified [RCV000250731] |
Chr2:208124175 [GRCh38] Chr2:208988899 [GRCh37] Chr2:2q33.3 |
benign|likely benign |
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 |
copy number gain |
See cases [RCV000051119] |
Chr2:194898783..236473913 [GRCh38] Chr2:195763507..237382556 [GRCh37] Chr2:195471752..237047295 [NCBI36] Chr2:2q32.3-37.3 |
pathogenic |
NM_020989.4(CRYGC):c.143G>A (p.Arg48His) |
single nucleotide variant |
Nuclear pulverulent cataract [RCV001523398]|Usher syndrome type 2C [RCV001258282]|not provided [RCV001724007]|not specified [RCV000455912] |
Chr2:208129550 [GRCh38] Chr2:208994274 [GRCh37] Chr2:2q33.3 |
benign |
NM_006891.4(CRYGD):c.10-7C>G |
single nucleotide variant |
Aculeiform cataract [RCV001520377]|Cataract 4 multiple types [RCV000314681] |
Chr2:208124361 [GRCh38] Chr2:208989085 [GRCh37] Chr2:2q33.3 |
benign|likely benign |
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 |
copy number gain |
See cases [RCV000139446] |
Chr2:180513793..224302848 [GRCh38] Chr2:181378520..225167565 [GRCh37] Chr2:181086765..224875809 [NCBI36] Chr2:2q31.3-36.2 |
pathogenic |
NM_020989.4(CRYGC):c.256G>T (p.Val86Phe) |
single nucleotide variant |
Nuclear pulverulent cataract [RCV002232293] |
Chr2:208128472 [GRCh38] Chr2:208993196 [GRCh37] Chr2:2q33.3 |
likely benign |
GRCh38/hg38 2q33.3-34(chr2:207949648-208438066)x1 |
copy number loss |
See cases [RCV000137082] |
Chr2:207949648..208438066 [GRCh38] Chr2:208814372..209302791 [GRCh37] Chr2:208522617..209011036 [NCBI36] Chr2:2q33.3-34 |
uncertain significance |
NM_020989.4(CRYGC):c.497C>T (p.Ser166Phe) |
single nucleotide variant |
Cataract 2, multiple types [RCV000059346]|Developmental cataract [RCV000203402] |
Chr2:208128231 [GRCh38] Chr2:208992955 [GRCh37] Chr2:2q33.3 |
pathogenic|likely pathogenic |
NM_005210.4(CRYGB):c.192T>C (p.Pro64=) |
single nucleotide variant |
Cataract 39 multiple types [RCV001513775]|not provided [RCV000836665] |
Chr2:208145834 [GRCh38] Chr2:209010558 [GRCh37] Chr2:2q33.3 |
benign |
NM_020989.4(CRYGC):c.423dup (p.Arg142fs) |
duplication |
Nuclear pulverulent cataract [RCV000641653] |
Chr2:208128304..208128305 [GRCh38] Chr2:208993028..208993029 [GRCh37] Chr2:2q33.3 |
pathogenic |
NM_020989.4(CRYGC):c.403G>T (p.Glu135Ter) |
single nucleotide variant |
not provided [RCV000171330] |
Chr2:208128325 [GRCh38] Chr2:208993049 [GRCh37] Chr2:2q33.3 |
likely pathogenic |
NM_006891.4(CRYGD):c.482A>G (p.Asn161Ser) |
single nucleotide variant |
Aculeiform cataract [RCV002521368]|CRYGD-related condition [RCV003422308]|Cataract 4 multiple types [RCV000384044] |
Chr2:208121716 [GRCh38] Chr2:208986440 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_006891.4(CRYGD):c.63C>T (p.Ser21=) |
single nucleotide variant |
Aculeiform cataract [RCV002231826]|Cataract 4 multiple types [RCV000560772]|not provided [RCV003431091] |
Chr2:208124301 [GRCh38] Chr2:208989025 [GRCh37] Chr2:2q33.3 |
benign |
NM_006891.4(CRYGD):c.168C>G (p.Tyr56Ter) |
single nucleotide variant |
Aculeiform cataract [RCV000859322]|Cataract 4 multiple types [RCV000414998]|Joubert syndrome 17 [RCV001258237]|not provided [RCV001636930] |
Chr2:208124196 [GRCh38] Chr2:208988920 [GRCh37] Chr2:2q33.3 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
NM_020989.4(CRYGC):c.280G>A (p.Glu94Lys) |
single nucleotide variant |
Nuclear pulverulent cataract [RCV002233069] |
Chr2:208128448 [GRCh38] Chr2:208993172 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_020989.4(CRYGC):c.119_123dup (p.Cys42fs) |
duplication |
Cataract 2, multiple types [RCV000018453] |
Chr2:208129569..208129570 [GRCh38] Chr2:208994293..208994294 [GRCh37] Chr2:2q33.3 |
pathogenic |
NM_006891.4(CRYGD):c.176G>A (p.Arg59His) |
single nucleotide variant |
Aculeiform cataract [RCV002228036]|Cataract 4 multiple types [RCV000018446] |
Chr2:208124188 [GRCh38] Chr2:208988912 [GRCh37] Chr2:2q33.3 |
pathogenic |
NM_006891.4(CRYGD):c.70C>T (p.Pro24Ser) |
single nucleotide variant |
Cataract 4 multiple types [RCV000018451] |
Chr2:208124294 [GRCh38] Chr2:208989018 [GRCh37] Chr2:2q33.3 |
pathogenic |
NM_005210.4(CRYGB):c.175C>T (p.Arg59Trp) |
single nucleotide variant |
Cataract 39 multiple types [RCV000529503] |
Chr2:208145851 [GRCh38] Chr2:209010575 [GRCh37] Chr2:2q33.3 |
benign |
NM_006891.4(CRYGD):c.499C>T (p.Leu167=) |
single nucleotide variant |
Aculeiform cataract [RCV000878241]|Cataract 4 multiple types [RCV000329510] |
Chr2:208121699 [GRCh38] Chr2:208986423 [GRCh37] Chr2:2q33.3 |
benign|likely benign |
NM_020989.4(CRYGC):c.212G>T (p.Gly71Val) |
single nucleotide variant |
Nuclear pulverulent cataract [RCV000808690] |
Chr2:208129481 [GRCh38] Chr2:208994205 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_006891.4(CRYGD):c.480G>A (p.Thr160=) |
single nucleotide variant |
not provided [RCV000896897] |
Chr2:208121718 [GRCh38] Chr2:208986442 [GRCh37] Chr2:2q33.3 |
likely benign |
NM_006891.4(CRYGD):c.181G>T (p.Gly61Cys) |
single nucleotide variant |
Aculeiform cataract [RCV001481301]|High myopia [RCV000785701]|not specified [RCV002249464] |
Chr2:208124183 [GRCh38] Chr2:208988907 [GRCh37] Chr2:2q33.3 |
likely benign|uncertain significance |
NM_006891.4(CRYGD):c.457C>T (p.Arg153Cys) |
single nucleotide variant |
not provided [RCV000762314] |
Chr2:208121741 [GRCh38] Chr2:208986465 [GRCh37] Chr2:2q33.3 |
uncertain significance |
GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1 |
copy number loss |
See cases [RCV000141254] |
Chr2:192938826..215705052 [GRCh38] Chr2:193803552..216569775 [GRCh37] Chr2:193511797..216278020 [NCBI36] Chr2:2q32.3-35 |
pathogenic |
NM_005210.4(CRYGB):c.72del (p.Asn25fs) |
deletion |
Cataract 39 multiple types [RCV000034854] |
Chr2:208145954 [GRCh38] Chr2:209010678 [GRCh37] Chr2:2q33.3 |
pathogenic |
NM_020989.4(CRYGC):c.123C>T (p.Gly41=) |
single nucleotide variant |
Nuclear pulverulent cataract [RCV000530819] |
Chr2:208129570 [GRCh38] Chr2:208994294 [GRCh37] Chr2:2q33.3 |
benign |
NM_006891.4(CRYGD):c.264C>G (p.His88Gln) |
single nucleotide variant |
Aculeiform cataract [RCV002521369]|Cataract 4 multiple types [RCV000286104]|not provided [RCV001764306] |
Chr2:208121934 [GRCh38] Chr2:208986658 [GRCh37] Chr2:2q33.3 |
likely benign|uncertain significance |
NM_006891.4(CRYGD):c.-33A>G |
single nucleotide variant |
Cataract 4 multiple types [RCV001137411] |
Chr2:208124506 [GRCh38] Chr2:208989230 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_006891.4(CRYGD):c.333T>C (p.Cys111=) |
single nucleotide variant |
Cataract 4 multiple types [RCV001139541] |
Chr2:208121865 [GRCh38] Chr2:208986589 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_005210.4(CRYGB):c.244A>G (p.Ile82Val) |
single nucleotide variant |
Cataract 39 multiple types [RCV000546524]|Inborn genetic diseases [RCV002530234] |
Chr2:208145782 [GRCh38] Chr2:209010506 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_006891.4(CRYGD):c.252+10T>A |
single nucleotide variant |
Cataract 4 multiple types [RCV000341011] |
Chr2:208124102 [GRCh38] Chr2:208988826 [GRCh37] Chr2:2q33.3 |
benign|likely benign |
NM_006891.4(CRYGD):c.-40C>T |
single nucleotide variant |
Cataract 4 multiple types [RCV000397701] |
Chr2:208124513 [GRCh38] Chr2:208989237 [GRCh37] Chr2:2q33.3 |
benign|likely benign |
NM_006891.4(CRYGD):c.70C>A (p.Pro24Thr) |
single nucleotide variant |
Aculeiform cataract [RCV001061709]|Cataract 4 multiple types [RCV000018448]|Developmental cataract [RCV000203330]|not provided [RCV001596934] |
Chr2:208124294 [GRCh38] Chr2:208989018 [GRCh37] Chr2:2q33.3 |
pathogenic|likely pathogenic |
NM_020989.4(CRYGC):c.253-92A>C |
single nucleotide variant |
not provided [RCV001580825] |
Chr2:208128567 [GRCh38] Chr2:208993291 [GRCh37] Chr2:2q33.3 |
likely benign |
NM_020989.4(CRYGC):c.120C>T (p.Ser40=) |
single nucleotide variant |
Nuclear pulverulent cataract [RCV001510546] |
Chr2:208129573 [GRCh38] Chr2:208994297 [GRCh37] Chr2:2q33.3 |
benign |
NM_006891.4(CRYGD):c.109C>A (p.Arg37Ser) |
single nucleotide variant |
Cataract 4 multiple types [RCV000018447] |
Chr2:208124255 [GRCh38] Chr2:208988979 [GRCh37] Chr2:2q33.3 |
pathogenic |
GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1 |
copy number loss |
See cases [RCV000141076] |
Chr2:199946494..209985195 [GRCh38] Chr2:200811217..210849919 [GRCh37] Chr2:200519462..210558164 [NCBI36] Chr2:2q33.1-34 |
pathogenic |
NM_006891.4(CRYGD):c.376G>A (p.Val126Met) |
single nucleotide variant |
Aculeiform cataract [RCV000872623]|Cataract 4 multiple types [RCV000289677] |
Chr2:208121822 [GRCh38] Chr2:208986546 [GRCh37] Chr2:2q33.3 |
benign|likely benign |
NM_006891.4(CRYGD):c.402C>A (p.Tyr134Ter) |
single nucleotide variant |
Cataract 4 multiple types [RCV000059331] |
Chr2:208121796 [GRCh38] Chr2:208986520 [GRCh37] Chr2:2q33.3 |
pathogenic |
NM_020989.4(CRYGC):c.317G>A (p.Ser106Asn) |
single nucleotide variant |
Nuclear pulverulent cataract [RCV000870740]|not provided [RCV001549807] |
Chr2:208128411 [GRCh38] Chr2:208993135 [GRCh37] Chr2:2q33.3 |
benign|likely benign |
NM_020989.4(CRYGC):c.432C>G (p.Tyr144Ter) |
single nucleotide variant |
not provided [RCV000760549] |
Chr2:208128296 [GRCh38] Chr2:208993020 [GRCh37] Chr2:2q33.3 |
pathogenic |
NM_006891.4(CRYGD):c.470G>A (p.Trp157Ter) |
single nucleotide variant |
Cataract 4 multiple types [RCV000018450] |
Chr2:208121728 [GRCh38] Chr2:208986452 [GRCh37] Chr2:2q33.3 |
pathogenic |
NM_005210.4(CRYGB):c.312A>G (p.Ser104=) |
single nucleotide variant |
Cataract 39 multiple types [RCV000559212] |
Chr2:208142854 [GRCh38] Chr2:209007578 [GRCh37] Chr2:2q33.3 |
benign |
NM_006891.4(CRYGD):c.155C>G (p.Ser52Trp) |
single nucleotide variant |
Aculeiform cataract [RCV002233520]|Inborn genetic diseases [RCV002528908] |
Chr2:208124209 [GRCh38] Chr2:208988933 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_006891.4(CRYGD):c.252C>G (p.His84Gln) |
single nucleotide variant |
Aculeiform cataract [RCV000813871] |
Chr2:208124112 [GRCh38] Chr2:208988836 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_006891.4(CRYGD):c.479C>T (p.Thr160Met) |
single nucleotide variant |
Cataract 4 multiple types [RCV001139540] |
Chr2:208121719 [GRCh38] Chr2:208986443 [GRCh37] Chr2:2q33.3 |
benign |
NM_006891.4(CRYGD):c.192C>G (p.Ala64=) |
single nucleotide variant |
Cataract 4 multiple types [RCV001140308] |
Chr2:208124172 [GRCh38] Chr2:208988896 [GRCh37] Chr2:2q33.3 |
benign |
NM_006891.4(CRYGD):c.400_410del (p.Tyr134fs) |
deletion |
Aculeiform cataract [RCV002233519] |
Chr2:208121788..208121798 [GRCh38] Chr2:208986512..208986522 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_020989.4(CRYGC):c.402C>G (p.Tyr134Ter) |
single nucleotide variant |
Nuclear pulverulent cataract [RCV001873451]|not provided [RCV001091188] |
Chr2:208128326 [GRCh38] Chr2:208993050 [GRCh37] Chr2:2q33.3 |
pathogenic|uncertain significance |
NM_006891.4(CRYGD):c.252C>T (p.His84=) |
single nucleotide variant |
Cataract 4 multiple types [RCV001140306] |
Chr2:208124112 [GRCh38] Chr2:208988836 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_006891.4(CRYGD):c.238C>T (p.Arg80Cys) |
single nucleotide variant |
Cataract 4 multiple types [RCV001140307] |
Chr2:208124126 [GRCh38] Chr2:208988850 [GRCh37] Chr2:2q33.3 |
likely benign |
NM_006891.4(CRYGD):c.9+15C>T |
single nucleotide variant |
Cataract 4 multiple types [RCV001142144] |
Chr2:208124450 [GRCh38] Chr2:208989174 [GRCh37] Chr2:2q33.3 |
benign |
NM_020989.4(CRYGC):c.84G>A (p.Pro28=) |
single nucleotide variant |
Nuclear pulverulent cataract [RCV000874408] |
Chr2:208129609 [GRCh38] Chr2:208994333 [GRCh37] Chr2:2q33.3 |
benign |
NM_005210.4(CRYGB):c.137A>G (p.Tyr46Cys) |
single nucleotide variant |
Cataract 39 multiple types [RCV001476838] |
Chr2:208145889 [GRCh38] Chr2:209010613 [GRCh37] Chr2:2q33.3 |
likely benign |
NM_006891.4(CRYGD):c.295A>G (p.Arg99Gly) |
single nucleotide variant |
Cataract 4 multiple types [RCV000325869] |
Chr2:208121903 [GRCh38] Chr2:208986627 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_005210.4(CRYGB):c.513C>T (p.Val171=) |
single nucleotide variant |
Cataract 39 multiple types [RCV001521189] |
Chr2:208142653 [GRCh38] Chr2:209007377 [GRCh37] Chr2:2q33.3 |
benign |
NM_005210.4(CRYGB):c.10-38del |
deletion |
Cataract 39 multiple types [RCV000034855]|not provided [RCV001610310] |
Chr2:208146054 [GRCh38] Chr2:209010778 [GRCh37] Chr2:2q33.3 |
pathogenic|benign |
NM_006891.4(CRYGD):c.9+2T>G |
single nucleotide variant |
not provided [RCV000585070] |
Chr2:208124463 [GRCh38] Chr2:208989187 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_020989.4(CRYGC):c.357C>T (p.Ser119=) |
single nucleotide variant |
Nuclear pulverulent cataract [RCV000534407]|not provided [RCV001549597] |
Chr2:208128371 [GRCh38] Chr2:208993095 [GRCh37] Chr2:2q33.3 |
benign|likely benign |
NM_020989.4(CRYGC):c.271C>T (p.Arg91Trp) |
single nucleotide variant |
Nuclear pulverulent cataract [RCV000876330] |
Chr2:208128457 [GRCh38] Chr2:208993181 [GRCh37] Chr2:2q33.3 |
likely benign |
NM_006891.4(CRYGD):c.475del (p.Ala159fs) |
deletion |
Aculeiform cataract [RCV000696202] |
Chr2:208121723 [GRCh38] Chr2:208986447 [GRCh37] Chr2:2q33.3 |
likely pathogenic|uncertain significance |
NM_006891.4(CRYGD):c.344G>A (p.Arg115His) |
single nucleotide variant |
Aculeiform cataract [RCV001352168] |
Chr2:208121854 [GRCh38] Chr2:208986578 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_006891.4(CRYGD):c.233C>T (p.Ser78Phe) |
single nucleotide variant |
Cataract 4 multiple types [RCV001807531] |
Chr2:208124131 [GRCh38] Chr2:208988855 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_005210.4(CRYGB):c.478del (p.Ala160fs) |
deletion |
Cataract 39, multiple types [RCV001333365] |
Chr2:208142688 [GRCh38] Chr2:209007412 [GRCh37] Chr2:2q33.3 |
pathogenic |
NM_020989.4(CRYGC):c.423del (p.Arg142fs) |
deletion |
Cataract 2, multiple types [RCV001336530] |
Chr2:208128305 [GRCh38] Chr2:208993029 [GRCh37] Chr2:2q33.3 |
pathogenic |
NM_020989.4(CRYGC):c.121G>A (p.Gly41Ser) |
single nucleotide variant |
Nuclear pulverulent cataract [RCV001341104] |
Chr2:208129572 [GRCh38] Chr2:208994296 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_020989.4(CRYGC):c.304A>G (p.Met102Val) |
single nucleotide variant |
Nuclear pulverulent cataract [RCV001368901] |
Chr2:208128424 [GRCh38] Chr2:208993148 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_005210.4(CRYGB):c.253-149T>C |
single nucleotide variant |
not provided [RCV001541370] |
Chr2:208143062 [GRCh38] Chr2:209007786 [GRCh37] Chr2:2q33.3 |
benign |
NM_020989.4(CRYGC):c.55A>G (p.Thr19Ala) |
single nucleotide variant |
Nuclear pulverulent cataract [RCV001410394] |
Chr2:208129638 [GRCh38] Chr2:208994362 [GRCh37] Chr2:2q33.3 |
likely benign |
NM_020989.4(CRYGC):c.33C>T (p.Ala11=) |
single nucleotide variant |
Nuclear pulverulent cataract [RCV001519838] |
Chr2:208129660 [GRCh38] Chr2:208994384 [GRCh37] Chr2:2q33.3 |
benign |
NM_005210.4(CRYGB):c.252+268A>G |
single nucleotide variant |
not provided [RCV001615418] |
Chr2:208145506 [GRCh38] Chr2:209010230 [GRCh37] Chr2:2q33.3 |
benign |
NM_006891.4(CRYGD):c.252+317G>A |
single nucleotide variant |
not provided [RCV001687792] |
Chr2:208123795 [GRCh38] Chr2:208988519 [GRCh37] Chr2:2q33.3 |
benign |
NM_006891.4(CRYGD):c.240C>T (p.Arg80=) |
single nucleotide variant |
Aculeiform cataract [RCV001487057] |
Chr2:208124124 [GRCh38] Chr2:208988848 [GRCh37] Chr2:2q33.3 |
likely benign |
NC_000002.12:g.208124857G>A |
single nucleotide variant |
not provided [RCV001713750] |
Chr2:208124857 [GRCh38] Chr2:208989581 [GRCh37] Chr2:2q33.3 |
benign |
NC_000002.12:g.208128047G>A |
single nucleotide variant |
not provided [RCV001691850] |
Chr2:208128047 [GRCh38] Chr2:208992771 [GRCh37] Chr2:2q33.3 |
benign |
NC_000002.12:g.208146167G>A |
single nucleotide variant |
Cataract 39 multiple types [RCV001523399]|not provided [RCV001647324] |
Chr2:208146167 [GRCh38] Chr2:209010891 [GRCh37] Chr2:2q33.3 |
benign |
NM_006891.4(CRYGD):c.386G>A (p.Gly129Asp) |
single nucleotide variant |
not provided [RCV001756492] |
Chr2:208121812 [GRCh38] Chr2:208986536 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_006891.4(CRYGD):c.51T>G (p.Tyr17Ter) |
single nucleotide variant |
not provided [RCV001732265] |
Chr2:208124313 [GRCh38] Chr2:208989037 [GRCh37] Chr2:2q33.3 |
likely pathogenic |
NM_005210.4(CRYGB):c.252+84_252+85del |
deletion |
not provided [RCV001759289] |
Chr2:208145689..208145690 [GRCh38] Chr2:209010413..209010414 [GRCh37] Chr2:2q33.3 |
likely benign |
NM_020989.4(CRYGC):c.44G>A (p.Arg15His) |
single nucleotide variant |
Inborn genetic diseases [RCV003276913] |
Chr2:208129649 [GRCh38] Chr2:208994373 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_020989.4(CRYGC):c.424del (p.Arg142fs) |
deletion |
not provided [RCV001776997] |
Chr2:208128304 [GRCh38] Chr2:208993028 [GRCh37] Chr2:2q33.3 |
pathogenic |
NM_005210.4(CRYGB):c.428G>A (p.Arg143Lys) |
single nucleotide variant |
Cataract 39 multiple types [RCV002040273] |
Chr2:208142738 [GRCh38] Chr2:209007462 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_006891.4(CRYGD):c.86A>G (p.Tyr29Cys) |
single nucleotide variant |
Aculeiform cataract [RCV001945596] |
Chr2:208124278 [GRCh38] Chr2:208989002 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_005210.4(CRYGB):c.478G>C (p.Ala160Pro) |
single nucleotide variant |
Cataract 39 multiple types [RCV001877170]|Inborn genetic diseases [RCV002551632] |
Chr2:208142688 [GRCh38] Chr2:209007412 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_006891.4(CRYGD):c.97T>C (p.Cys33Arg) |
single nucleotide variant |
Aculeiform cataract [RCV001872079] |
Chr2:208124267 [GRCh38] Chr2:208988991 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_020989.4(CRYGC):c.135C>G (p.Leu45=) |
single nucleotide variant |
Nuclear pulverulent cataract [RCV001983843] |
Chr2:208129558 [GRCh38] Chr2:208994282 [GRCh37] Chr2:2q33.3 |
likely benign|uncertain significance |
NM_006891.4(CRYGD):c.471G>A (p.Trp157Ter) |
single nucleotide variant |
Aculeiform cataract [RCV002020658] |
Chr2:208121727 [GRCh38] Chr2:208986451 [GRCh37] Chr2:2q33.3 |
likely pathogenic |
NM_020989.4(CRYGC):c.145C>A (p.Pro49Thr) |
single nucleotide variant |
Nuclear pulverulent cataract [RCV001944728] |
Chr2:208129548 [GRCh38] Chr2:208994272 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_020989.4(CRYGC):c.365G>A (p.Arg122His) |
single nucleotide variant |
CRYGC-related condition [RCV003416625]|Nuclear pulverulent cataract [RCV001936153] |
Chr2:208128363 [GRCh38] Chr2:208993087 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_020989.4(CRYGC):c.418dup (p.Arg140fs) |
duplication |
Nuclear pulverulent cataract [RCV001976189] |
Chr2:208128309..208128310 [GRCh38] Chr2:208993033..208993034 [GRCh37] Chr2:2q33.3 |
likely pathogenic |
NM_005210.4(CRYGB):c.251C>T (p.Pro84Leu) |
single nucleotide variant |
Cataract 39 multiple types [RCV001925904] |
Chr2:208145775 [GRCh38] Chr2:209010499 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_020989.4(CRYGC):c.10-14T>C |
single nucleotide variant |
Nuclear pulverulent cataract [RCV002115895] |
Chr2:208129697 [GRCh38] Chr2:208994421 [GRCh37] Chr2:2q33.3 |
benign |
NM_006891.4(CRYGD):c.334C>G (p.Leu112Val) |
single nucleotide variant |
Aculeiform cataract [RCV002094334] |
Chr2:208121864 [GRCh38] Chr2:208986588 [GRCh37] Chr2:2q33.3 |
likely benign |
NM_020989.4(CRYGC):c.364C>T (p.Arg122Cys) |
single nucleotide variant |
Nuclear pulverulent cataract [RCV002131396] |
Chr2:208128364 [GRCh38] Chr2:208993088 [GRCh37] Chr2:2q33.3 |
benign |
NM_020989.4(CRYGC):c.253-7C>T |
single nucleotide variant |
Nuclear pulverulent cataract [RCV002158516] |
Chr2:208128482 [GRCh38] Chr2:208993206 [GRCh37] Chr2:2q33.3 |
likely benign |
NM_020989.4(CRYGC):c.258C>T (p.Val86=) |
single nucleotide variant |
Nuclear pulverulent cataract [RCV002217645] |
Chr2:208128470 [GRCh38] Chr2:208993194 [GRCh37] Chr2:2q33.3 |
likely benign |
NM_005210.4(CRYGB):c.9+11_9+13delinsAAA |
indel |
Cataract 39 multiple types [RCV002101184] |
Chr2:208146099..208146101 [GRCh38] Chr2:209010823..209010825 [GRCh37] Chr2:2q33.3 |
likely benign |
NM_020989.4(CRYGC):c.469delinsAG (p.Trp157fs) |
indel |
not provided [RCV002276092] |
Chr2:208128259 [GRCh38] Chr2:208992983 [GRCh37] Chr2:2q33.3 |
pathogenic |
NM_020989.4(CRYGC):c.394del (p.Val132fs) |
deletion |
Cataract 2, multiple types [RCV002274222] |
Chr2:208128334 [GRCh38] Chr2:208993058 [GRCh37] Chr2:2q33.3 |
pathogenic |
NM_020989.4(CRYGC):c.403G>A (p.Glu135Lys) |
single nucleotide variant |
Cataract 2, multiple types [RCV002289467] |
Chr2:208128325 [GRCh38] Chr2:208993049 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_006891.4(CRYGD):c.193G>A (p.Asp65Asn) |
single nucleotide variant |
not provided [RCV003152018] |
Chr2:208124171 [GRCh38] Chr2:208988895 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_020989.4(CRYGC):c.458G>A (p.Arg153Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002945443] |
Chr2:208128270 [GRCh38] Chr2:208992994 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_006891.4(CRYGD):c.154T>C (p.Ser52Pro) |
single nucleotide variant |
Aculeiform cataract [RCV002819120] |
Chr2:208124210 [GRCh38] Chr2:208988934 [GRCh37] Chr2:2q33.3 |
likely pathogenic |
NM_020989.4(CRYGC):c.97T>C (p.Cys33Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002992991] |
Chr2:208129596 [GRCh38] Chr2:208994320 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_020989.4(CRYGC):c.164A>G (p.Gln55Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002946366] |
Chr2:208129529 [GRCh38] Chr2:208994253 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_020989.4(CRYGC):c.125G>A (p.Cys42Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002844397] |
Chr2:208129568 [GRCh38] Chr2:208994292 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_020989.4(CRYGC):c.230G>A (p.Arg77His) |
single nucleotide variant |
Inborn genetic diseases [RCV002978480] |
Chr2:208129463 [GRCh38] Chr2:208994187 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_005210.4(CRYGB):c.373C>G (p.Leu125Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002785165] |
Chr2:208142793 [GRCh38] Chr2:209007517 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_005210.4(CRYGB):c.509G>A (p.Arg170Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002823351] |
Chr2:208142657 [GRCh38] Chr2:209007381 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_020989.4(CRYGC):c.142C>T (p.Arg48Cys) |
single nucleotide variant |
Nuclear pulverulent cataract [RCV002979591] |
Chr2:208129551 [GRCh38] Chr2:208994275 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_020989.4(CRYGC):c.220G>A (p.Asp74Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002924787] |
Chr2:208129473 [GRCh38] Chr2:208994197 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_020989.4(CRYGC):c.272G>A (p.Arg91Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002951952] |
Chr2:208128456 [GRCh38] Chr2:208993180 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_006891.4(CRYGD):c.150C>A (p.Asn50Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002986824] |
Chr2:208124214 [GRCh38] Chr2:208988938 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_005210.4(CRYGB):c.221A>T (p.Asp74Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002893721] |
Chr2:208145805 [GRCh38] Chr2:209010529 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_020989.4(CRYGC):c.229C>T (p.Arg77Cys) |
single nucleotide variant |
Nuclear pulverulent cataract [RCV002890986] |
Chr2:208129464 [GRCh38] Chr2:208994188 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_006891.4(CRYGD):c.262C>T (p.His88Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002878430] |
Chr2:208121936 [GRCh38] Chr2:208986660 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_020989.4(CRYGC):c.450G>T (p.Glu150Asp) |
single nucleotide variant |
Nuclear pulverulent cataract [RCV002627643] |
Chr2:208128278 [GRCh38] Chr2:208993002 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_020989.4(CRYGC):c.491C>T (p.Ala164Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002897787] |
Chr2:208128237 [GRCh38] Chr2:208992961 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_020989.4(CRYGC):c.137A>G (p.Tyr46Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002672499] |
Chr2:208129556 [GRCh38] Chr2:208994280 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_020989.4(CRYGC):c.344G>A (p.Arg115His) |
single nucleotide variant |
Inborn genetic diseases [RCV002960937] |
Chr2:208128384 [GRCh38] Chr2:208993108 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_020989.4(CRYGC):c.411_417delinsTCGTAGACGGGGCAATACCCTCGTAGACGGGCAATACCTCGTAGACGGGGCAATACCCTCGTAGA (p.Asn138_Tyr139delinsArgArgArgGlyAsnThrLeuValAspGlyGlnTyrLeuValAspGlyAlaIleProSerTer) |
indel |
Nuclear pulverulent cataract [RCV002898768] |
Chr2:208128311..208128317 [GRCh38] Chr2:208993035..208993041 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_005210.4(CRYGB):c.290A>G (p.Asp97Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003194050] |
Chr2:208142876 [GRCh38] Chr2:209007600 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_005210.4(CRYGB):c.148A>G (p.Asn50Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003206030] |
Chr2:208145878 [GRCh38] Chr2:209010602 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_020989.4(CRYGC):c.149A>G (p.Asn50Ser) |
single nucleotide variant |
Cataract 2, multiple types [RCV003143367] |
Chr2:208129544 [GRCh38] Chr2:208994268 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_006891.4(CRYGD):c.110G>C (p.Arg37Pro) |
single nucleotide variant |
not provided [RCV003329934] |
Chr2:208124254 [GRCh38] Chr2:208988978 [GRCh37] Chr2:2q33.3 |
likely pathogenic |
NM_020989.4(CRYGC):c.10-1G>A |
single nucleotide variant |
not provided [RCV003325890] |
Chr2:208129684 [GRCh38] Chr2:208994408 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_005210.4(CRYGB):c.47G>A (p.Ser16Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003368664] |
Chr2:208145979 [GRCh38] Chr2:209010703 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_005210.4(CRYGB):c.144C>T (p.Arg48=) |
single nucleotide variant |
not provided [RCV003440144] |
Chr2:208145882 [GRCh38] Chr2:209010606 [GRCh37] Chr2:2q33.3 |
likely benign |
NM_006891.4(CRYGD):c.236G>A (p.Cys79Tyr) |
single nucleotide variant |
CRYGD-related condition [RCV003399977] |
Chr2:208124128 [GRCh38] Chr2:208988852 [GRCh37] Chr2:2q33.3 |
uncertain significance |
NM_006891.4(CRYGD):c.223T>C (p.Ser75Pro) |
single nucleotide variant |
CRYGD-related condition [RCV003391472] |
Chr2:208124141 [GRCh38] Chr2:208988865 [GRCh37] Chr2:2q33.3 |
uncertain significance |