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.119_123dup (p.Cys42fs) |
duplication |
Cataract 2, multiple types [RCV000018453] |
Chr2:208129569..208129570 [GRCh38] Chr2:208994293..208994294 [GRCh37] Chr2:2q33.3 |
pathogenic |
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.13A>C (p.Thr5Pro) |
single nucleotide variant |
Cataract 2, Coppock-like [RCV000018452] |
Chr2:208129680 [GRCh38] Chr2:208994404 [GRCh37] Chr2:2q33.3 |
pathogenic |
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 |
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 |
GRCh38/hg38 2q33.1-34(chr2:198095810-211803453)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|See cases [RCV000052603] |
Chr2:198095810..211803453 [GRCh38] Chr2:198960534..212668178 [GRCh37] Chr2:198668779..212376423 [NCBI36] Chr2:2q33.1-34 |
pathogenic |
GRCh38/hg38 2q33.2-35(chr2:203010732-214671878)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052607]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052607]|See cases [RCV000052607] |
Chr2:203010732..214671878 [GRCh38] Chr2:203875455..215536602 [GRCh37] Chr2:203583700..215244847 [NCBI36] Chr2:2q33.2-35 |
pathogenic |
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 |
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 2q32.3-37.3(chr2:193122313-241074980)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] |
Chr2:193122313..241074980 [GRCh38] Chr2:193987039..242014395 [GRCh37] Chr2:193695284..241663068 [NCBI36] Chr2:2q32.3-37.3 |
pathogenic |
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_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 |
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_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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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_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_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 |
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_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 |
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 |
copy number gain |
not provided [RCV000752802] |
Chr2:14238..243048760 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 |
copy number gain |
See cases [RCV000448271] |
Chr2:169829974..215521436 [GRCh37] Chr2:2q31.1-35 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) |
copy number gain |
See cases [RCV000512056] |
Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
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_020989.4(CRYGC):c.427C>T (p.Gln143Ter) |
single nucleotide variant |
not provided [RCV000493023] |
Chr2:208128301 [GRCh38] Chr2:208993025 [GRCh37] Chr2:2q33.3 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 |
copy number gain |
See cases [RCV000511212] |
Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
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.423dup (p.Arg142fs) |
duplication |
Nuclear pulverulent cataract [RCV000641653] |
Chr2:208128304..208128305 [GRCh38] Chr2:208993028..208993029 [GRCh37] Chr2:2q33.3 |
pathogenic |
GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3 |
copy number gain |
not provided [RCV000682166] |
Chr2:205169148..219149293 [GRCh37] Chr2:2q33.3-35 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 |
copy number gain |
not provided [RCV000752804] |
Chr2:15672..243101834 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
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_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_020989.4(CRYGC):c.432C>G (p.Tyr144Ter) |
single nucleotide variant |
not provided [RCV000760549] |
Chr2:208128296 [GRCh38] Chr2:208993020 [GRCh37] Chr2:2q33.3 |
pathogenic |
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 |
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_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 |
GRCh37/hg19 2q33.3-34(chr2:208965515-209383510)x3 |
copy number gain |
not provided [RCV000847666] |
Chr2:208965515..209383510 [GRCh37] Chr2:2q33.3-34 |
uncertain significance |
GRCh37/hg19 2q33.3-34(chr2:208956981-209383510)x3 |
copy number gain |
not provided [RCV000847075] |
Chr2:208956981..209383510 [GRCh37] Chr2:2q33.3-34 |
uncertain significance |
Single allele |
duplication |
Neurodevelopmental disorder [RCV000787403] |
Chr2:188926928..225298653 [GRCh37] Chr2:2q32.1-36.2 |
pathogenic |
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 |
copy number gain |
not provided [RCV001005349] |
Chr2:163233162..211927188 [GRCh37] Chr2:2q24.2-34 |
pathogenic |
GRCh37/hg19 2q33.3-34(chr2:208965516-209396109)x3 |
copy number gain |
not provided [RCV001005372] |
Chr2:208965516..209396109 [GRCh37] Chr2:2q33.3-34 |
uncertain significance |
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_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.271C>T (p.Arg91Trp) |
single nucleotide variant |
Nuclear pulverulent cataract [RCV000876330] |
Chr2:208128457 [GRCh38] Chr2:208993181 [GRCh37] Chr2:2q33.3 |
likely benign |
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_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_020989.4(CRYGC):c.252+217A>G |
single nucleotide variant |
not provided [RCV001588764] |
Chr2:208129224 [GRCh38] Chr2:208993948 [GRCh37] Chr2:2q33.3 |
likely 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.208127913A>G |
single nucleotide variant |
not provided [RCV001583885] |
Chr2:208127913 [GRCh38] Chr2:208992637 [GRCh37] Chr2:2q33.3 |
likely benign |
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 |
GRCh37/hg19 2q33.2-34(chr2:204445619-212580788)x1 |
copy number loss |
not provided [RCV001258576] |
Chr2:204445619..212580788 [GRCh37] Chr2:2q33.2-34 |
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 |
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 |
copy number gain |
See cases [RCV001263052] |
Chr2:178397959..243007457 [GRCh37] Chr2:2q31.2-37.3 |
pathogenic |
GRCh37/hg19 2q32.1-34(chr2:185697659-213002074) |
copy number loss |
Chromosome 2q32-q33 deletion syndrome [RCV002280608] |
Chr2:185697659..213002074 [GRCh37] Chr2:2q32.1-34 |
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.304A>G (p.Met102Val) |
single nucleotide variant |
Nuclear pulverulent cataract [RCV001368901] |
Chr2:208128424 [GRCh38] Chr2:208993148 [GRCh37] Chr2:2q33.3 |
uncertain significance |
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.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 |
NC_000002.12:g.208128047G>A |
single nucleotide variant |
not provided [RCV001691850] |
Chr2:208128047 [GRCh38] Chr2:208992771 [GRCh37] Chr2:2q33.3 |
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 |
GRCh37/hg19 2q33.3-34(chr2:208801409-209164383) |
copy number gain |
not specified [RCV002053277] |
Chr2:208801409..209164383 [GRCh37] Chr2:2q33.3-34 |
uncertain significance |
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) |
copy number gain |
not specified [RCV002053265] |
Chr2:169829974..215521436 [GRCh37] Chr2:2q31.1-35 |
pathogenic |
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 |
GRCh37/hg19 2q33.1-34(chr2:200851079-209054267) |
copy number loss |
not specified [RCV002053275] |
Chr2:200851079..209054267 [GRCh37] Chr2:2q33.1-34 |
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 |
NC_000002.11:g.(?_203420070)_(211811277_?)del |
deletion |
Primary pulmonary hypertension [RCV002016799] |
Chr2:203420070..211811277 [GRCh37] Chr2:2q33.2-34 |
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_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.10-14T>C |
single nucleotide variant |
Nuclear pulverulent cataract [RCV002115895] |
Chr2:208129697 [GRCh38] Chr2:208994421 [GRCh37] Chr2:2q33.3 |
benign |
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) |
copy number gain |
Mosaic trisomy 2 [RCV002280628] |
Chr2:1..243199373 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
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 |
NC_000002.11:g.(?_208986397)_(209220029_?)del |
deletion |
not provided [RCV003119473] |
Chr2:208986397..209220029 [GRCh37] Chr2:2q33.3-34 |
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.469delinsAG (p.Trp157fs) |
indel |
not provided [RCV002276092] |
Chr2:208128259 [GRCh38] Chr2:208992983 [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 |
GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1 |
copy number loss |
not provided [RCV002473800] |
Chr2:189909904..209468383 [GRCh37] Chr2:2q32.2-34 |
pathogenic |
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_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.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.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_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_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.229C>T (p.Arg77Cys) |
single nucleotide variant |
Nuclear pulverulent cataract [RCV002890986] |
Chr2:208129464 [GRCh38] Chr2:208994188 [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.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.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.411_417delinsTCGTAGACGGGGCAATACCCTCGTAGACGGGCAATACCTCGTAGACGGGGCAATACCCTCGTAGA (p.Asn138_Tyr139delinsArgArgArgGlyAsnThrLeuValAspGlyGlnTyrLeuValAspGlyAlaIleProSerTer) |
indel |
Nuclear pulverulent cataract [RCV002898768] |
Chr2:208128311..208128317 [GRCh38] Chr2:208993035..208993041 [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 |
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 |
copy number gain |
See cases [RCV003329558] |
Chr2:186698504..223918111 [GRCh37] Chr2:2q32.1-36.1 |
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 |