LOVD - Variant listings for CRYBB2

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-/? 1i c.-27+77A>G
    + 10 others
IVS1+84A>G (Z99919.1:65894A>G) r.(?) p.(=) CRYBB2_00001 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, congenital, cerulean type (CCA2) - 5-generation family, 9 affecteds JdD - - - 9 India - - - -
-/? 1i c.-27+77A>G IVS1+84A>G (Z99919.1:65894A>G) r.(=) p.(=) CRYBB2_00001 - germline (inherited) Santhiya 2004 DNA SEQ 6/7 - cataract - different families JdD - - - 6 India - - - -
-/? 1i c.-27+77A>G
    + c.449+9G>A, c.483G>A, CRYGB (3), CRYGA (2)
IVS1+84A>G (Z99919.1:65894A>G) r.(=) p.(=) CRYBB2_00001 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, congenital, autosomal dominant variable lamellar / nuclear 4-generation family, 8 affecteds JdD familial, autosomal dominant, familial, autosomal dominant - - 1 India - - - -
-/? 1i c.-27+77A>G
    + c.174-476G>A, c.174-337G>A, c.449+9G>A, c.483G>A, CRYGB (1), CRYGA (1), CRYGD (3)
IVS1+84A>G (Z99919.1:65894A>G) r.(=) p.(=) CRYBB2_00001 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal recessive - family, 3 affecteds JdD familial, autosomal recessive, familial, autosomal recessive - - 1 India - - - -
-/? 1i c.-27+77A>G
    + c.449+9G>A, c.483G>A, CRYGB (1), CRYGA (1)
IVS1+84A>G (Z99919.1:65894A>G) r.(=) p.(=) CRYBB2_00001 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal dominant zonular 2-generation family, 2 affecteds JdD - - - 1 India - - - -
-/? 1i c.-27+77A>G
    + c.483G>A, CRYGA (1), CRYGD (3)
IVS1+84A>G (Z99919.1:65894A>G) r.(=) p.(=) CRYBB2_00001 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal recessive posterior polar/lenticonus, capsular dehiscence family, 1 affected JdD - - - 1 India - - - -
-/? 1i c.-27+77A>G
    + c.174-337G>A, c.449+9G>A, c.449+82G>A, CRYGD (3), CRYGB (2)
IVS1+84A>G (Z99919.1:65894A>G) r.(=) p.(=) CRYBB2_00001 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal recessive posterior subcapsula family, 2 affecteds JdD - - - 1 India - - - -
-/- 1_6 c.=
    + 10 others
- r.= p.= CRYBB2_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, congenital, cerulean type (CCA2) - 5-generation family, 9 affecteds JdD - - - 9 India - - - -
-/- 1_6 c.=
    + c.463C>T
- r.= p.= CRYBB2_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, congenital, cerulean type (CCA2) Cerulean blue 4-generation family, 18 affecteds (1 homozygous) JdD familial, autosomal dominant - - 17 United States - - - -
-/- 1_6 c.=
    + c.463C>T
- r.= p.= CRYBB2_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, Coppock-like (CCL) pulverulent opacification embryonal nucleus, gray disc appearance associated with zonular opacities (variable degree) 4-generation family, 13 affecteds JdD familial, autosomal dominant - - 13 Switzerland - - - -
-/- 1_6 c.=
    + c.463C>T
- r.= p.= CRYBB2_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, congenital, polymorphic progressive polymorphic 5-generation family, 19 affecteds JdD - - - 19 China - - - -
-/- 1_6 c.=
    + c.463C>T, c.471C>T
- r.= p.= CRYBB2_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, sutural, punctate and cerulean opacities (CSPC) sutural and cerulean opacities 5-generation family, 33 affecteds JdD - - - 33 India - - - -
-/- 1_6 c.=
    + c.477C>A
- r.= p.= CRYBB2_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, autosomal dominant - 3-generation family, 2 affecteds (F) JdD - - - 2 Denmark - F - -
-/- 1_6 c.=
    + c.463C>T
- r.= p.= CRYBB2_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, congenital, cerulean type (CCA2) - unrelated patient JdD familial, autosomal dominant - - 1 Switzerland - - - -
-/- 1_6 c.=
    + c.463C>T
- r.= p.= CRYBB2_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, Coppock-like (CCL) pulverulent opacification embryonal nucleus, gray disc appearance associated with zonular opacities (variable degree) 4-generation family, 13 affecteds JdD familial, autosomal dominant - - 13 Switzerland - - - -
-/- 1_6 c.=
    + c.463C>T, c.471C>T
- r.= p.= CRYBB2_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, autosomal dominant - 4-generation family, 19 affecteds JdD - - - 19 Chile - - - -
-/- 1_6 c.=
    + c.383A>T
- r.= p.= CRYBB2_00000 - germline (inherited) - DNA SEQ - - cataract, congenital nuclear with additional ring-shaped cortical opacity mother, has affected son and daugther Pauli 2007, JdD - - - 3 German - - - -
-/- 1_6 c.=
    + c.463C>T
- r.= p.= CRYBB2_00000 - germline (inherited) - DNA SEQ - - cataract, congenital, autosomal dominant progressive polymorphic congenital coronary 5-generation family, 18 affecteds Li 2008, JdD - - - 18 China - - - -
-/- 1_6 c.=
    + c.(560G>A)
- r.= p.= CRYBB2_00000 - germline (inherited) - DNA SEQ - - cataract, autosomal dominant progressive opacity - JdD - - - 1 - - - - -
-/- 1_6 c.=
    + c.(554_565del)
- r.= p.= CRYBB2_00000 - germline (inherited) - DNA SEQ - - cataract, autosomal dominant - - JdD - - - 1 - - - - -
-/- 1_6 c.=
    + 10 others
- r.= p.= CRYBB2_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, autosomal dominant - affected mother and daugther JdD - - - 2 Denmark - F - -
-/? 1_6 c.=
    + c.559G>A
- r.= p.= CRYBB2_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, congenital, autosomal dominant - 3-generation family, 6 affecteds JdD familial, autosomal dominant - - 6 Lesotho Basotho ? - -
-/- 1_6 c.=
    + c.463C>T
- r.= p.= CRYBB2_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, autosomal dominant cortical, pulverulent opacities 4-generation family, 7 affecteds JdD familial, autosomal dominant - - 7 India - - - -
?/? 2 c.14A>T
    + c.193G>T, c.433C>T, c.440A>G, c.449C>T, c.449+9G>A
- r.(?) p.(His5Leu) CRYBB2_00022 - germline (inherited) dbSNP-rs7291633 DNA SEQ 0.00 - - - - JdD - - - 1 - - - - -
-/? 3i c.173+120C>A
    + 10 others
IVS3+120C>A r.(=) p.(=) CRYBB2_00018 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, congenital, cerulean type (CCA2) - 5-generation family, 9 affecteds JdD - - - 9 India - - - -
-/? 3i c.173+120C>A
    + c.174-337G>A, c.449+8C>T, c.449+9G>A, CRYAA (3)
IVS3+120C>A r.(=) p.(=) CRYBB2_00018 - germline (inherited) Graw 2006 DNA SEQ - - cataract, congenital, autosomal dominant - - JdD - - - 1 Germany - - - -
-/? 3i c.174-476G>A
    + c.-27+77A>G, c.174-337G>A, c.449+9G>A, c.483G>A, CRYGB (1), CRYGA (1), CRYGD (3)
IVS3-476A>T r.(=) p.(=) CRYBB2_00004 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal recessive - family, 3 affecteds JdD familial, autosomal recessive, familial, autosomal recessive - - 1 India - - - -
-/? 3i c.174-337G>A
    + 10 others
IVS3-337G>A r.(=) p.(=) CRYBB2_00005 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, congenital, cerulean type (CCA2) - 5-generation family, 9 affecteds JdD - - - 9 India - - - -
-/? 3i c.174-337G>A
    + c.173+120C>A, c.449+8C>T, c.449+9G>A, CRYAA (3)
IVS3-337G>A r.(=) p.(=) CRYBB2_00005 - germline (inherited) Graw 2006 DNA SEQ - - cataract, congenital, autosomal dominant - - JdD - - - 1 Germany - - - -
-/? 3i c.174-337G>A
    + c.-27+77A>G, c.174-476G>A, c.449+9G>A, c.483G>A, CRYGB (1), CRYGA (1), CRYGD (3)
IVS3-337G>A r.(=) p.(=) CRYBB2_00005 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal recessive - family, 3 affecteds JdD familial, autosomal recessive, familial, autosomal recessive - - 1 India - - - -
-/? 3i c.174-337G>A
    + c.-27+77A>G, c.449+9G>A, c.449+82G>A, CRYGD (3), CRYGB (2)
IVS3-337G>A r.(=) p.(=) CRYBB2_00005 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal recessive posterior subcapsula family, 2 affecteds JdD - - - 1 India - - - -
?/? 4 c.193G>T
    + c.14A>T, c.433C>T, c.440A>G, c.449C>T, c.449+9G>A
- r.(?) p.(Ala65Ser) CRYBB2_00023 - germline (inherited) dbSNP-rs16986560 DNA SEQ 0.00-0.05 - - - - JdD - - - 1 - - - - -
+/? 5 c.383A>T
    + c.=
383A>T r.(?) p.(Asp128Val) CRYBB2_00009 not in 192 control chromosomes germline (inherited) Pauli 2007 DNA SEQ - TaiI+ cataract, congenital nuclear with additional ring-shaped cortical opacity mother, has affected son and daugther Pauli 2007, JdD - - - 3 German - - - -
+?/? 5 c.433C>T
    + 10 others
- r.(?) p.(Arg145Trp) CRYBB2_00020 not in 100 control chromosomes; origin probable gene conversion with CRYBB2P1 germline (inherited) Hansen 2009 DNA SEQ - - cataract, autosomal dominant - affected mother and daugther JdD - - - 2 Denmark - F - -
?/? 5 c.433C>T
    + c.14A>T, c.193G>T, c.440A>G, c.449C>T, c.449+9G>A
- r.(?) p.(Arg145Trp) CRYBB2_00020 origin probable gene conversion with CRYBB2P1 germline (inherited) dbSNP-rs2330991 DNA SEQ - - - - - JdD - - - 1 - - - - -
+?/? 5 c.440A>G
    + 10 others
- r.(?) p.(Gln147Arg) CRYBB2_00010 not in 100 control chromosomes; origin probable gene conversion with CRYBB2P1 germline (inherited) Hansen 2009 DNA SEQ - - cataract, autosomal dominant - affected mother and daugther JdD - - - 2 Denmark - F - -
?/? 5 c.440A>G
    + c.14A>T, c.193G>T, c.433C>T, c.449C>T, c.449+9G>A
- r.(?) p.(Gln147Arg) CRYBB2_00010 - germline (inherited) dbSNP-rs2330992 DNA SEQ - - - - - JdD - - - 1 - - - - -
+?/? 5 c.449C>T
    + 10 others
- r.(spl?) p.(Tyr150Met) CRYBB2_00011 not in 100 control chromosomes; origin probable gene conversion with CRYBB2P1 germline (inherited) Hansen 2009 DNA SEQ - - cataract, autosomal dominant - affected mother and daugther JdD - - - 2 Denmark - F - -
?/? 5 c.449C>T
    + c.14A>T, c.193G>T, c.433C>T, c.440A>G, c.449+9G>A
- r.(spl?) p.(Tyr150Met) CRYBB2_00011 - germline (inherited) dbSNP-rs4049504 DNA SEQ - - - - - JdD - - - 1 - - - - -
-/? 5i c.449+8C>T
    + c.173+120C>A, c.174-337G>A, c.449+9G>A, CRYAA (3)
IVS5+8C>T r.(=) p.(=) CRYBB2_00016 - germline (inherited) Graw 2006 DNA SEQ - - cataract, congenital, autosomal dominant - - JdD - - - 1 Germany - - - -
-/? 5i c.449+9G>A
    + c.173+120C>A, c.174-337G>A, c.449+8C>T, CRYAA (3)
IVS5+9G>A r.(=) p.(=) CRYBB2_00006 homozygous in father germline (inherited) Graw 2006 DNA SEQ - - cataract, congenital, autosomal dominant - - JdD - - - 1 Germany - - - -
-/? 5i c.449+9G>A IVS5+9G>A r.(?) p.(=) CRYBB2_00006 - germline (inherited) Santhiya 2004 DNA SEQ 4/5 - cataract - different families JdD - - - 4 India - - - -
-/? 5i c.449+9G>A
    + 10 others
- r.(=) p.(=) CRYBB2_00006 - germline (inherited) Hansen 2009 DNA SEQ - - cataract, autosomal dominant - affected mother and daugther JdD - - - 2 Denmark - F - -
-/? 5i c.449+9G>A
    + 10 others
- r.(=) p.(=) CRYBB2_00006 - germline (inherited) Hansen 2009 DNA SEQ - - cataract, autosomal dominant - affected mother and daugther JdD - - - 2 Denmark - F - -
?/? 5i c.449+9G>A
    + c.14A>T, c.193G>T, c.433C>T, c.440A>G, c.449C>T
- r.(=) p.(=) CRYBB2_00006 - germline (inherited) dbSNP-rs55700037, rs57112959 DNA SEQ 0.67-1.0 - - - - JdD - - - 1 - - - - -
-/? 5i c.449+9G>A
    + c.-27+77A>G, c.483G>A, CRYGB (3), CRYGA (2)
IVS5+9G>A r.(?) p.(=) CRYBB2_00006 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, congenital, autosomal dominant variable lamellar / nuclear 4-generation family, 8 affecteds JdD familial, autosomal dominant, familial, autosomal dominant - - 1 India - - - -
-/? 5i c.449+9G>A
    + c.-27+77A>G, c.174-476G>A, c.174-337G>A, c.483G>A, CRYGB (1), CRYGA (1), CRYGD (3)
IVS5+9G>A r.(?) p.(=) CRYBB2_00006 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal recessive - family, 3 affecteds JdD familial, autosomal recessive, familial, autosomal recessive - - 1 India - - - -
-/? 5i c.449+9G>A
    + c.-27+77A>G, c.483G>A, CRYGB (1), CRYGA (1)
IVS5+9G>A r.(?) p.(=) CRYBB2_00006 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal dominant zonular 2-generation family, 2 affecteds JdD - - - 1 India - - - -
-/? 5i c.449+9G>A
    + c.-27+77A>G, c.174-337G>A, c.449+82G>A, CRYGD (3), CRYGB (2)
IVS5+9G>A r.(?) p.(=) CRYBB2_00006 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal recessive posterior subcapsula family, 2 affecteds JdD - - - 1 India - - - -
-/? 5i c.449+27C>G
    + 10 others
- r.(=) p.(=) CRYBB2_00012 - germline (inherited) Hansen 2009 DNA SEQ - - cataract, autosomal dominant - affected mother and daugther JdD - - - 2 Denmark - F - -
-/? 5i c.449+61G>A
    + 10 others
- r.(=) p.(=) CRYBB2_00013 - germline (inherited) Hansen 2009 DNA SEQ - - cataract, autosomal dominant - affected mother and daugther JdD - - - 2 Denmark - F - -
-/? 5i c.449+61G>A
    + 10 others
- r.(=) p.(=) CRYBB2_00013 - germline (inherited) Hansen 2009 DNA SEQ - - cataract, autosomal dominant - affected mother and daugther JdD - - - 2 Denmark - F - -
-/? 5i c.449+66G>A
    + 10 others
- r.(=) p.(=) CRYBB2_00014 - germline (inherited) Hansen 2009 DNA SEQ - - cataract, autosomal dominant - affected mother and daugther JdD - - - 2 Denmark - F - -
-/? 5i c.449+66G>A
    + 10 others
- r.(=) p.(=) CRYBB2_00014 - germline (inherited) Hansen 2009 DNA SEQ - - cataract, autosomal dominant - affected mother and daugther JdD - - - 2 Denmark - F - -
-/? 5i c.449+82G>A IVS5+82G>A r.(?) p.(=) CRYBB2_00007 - germline (inherited) Santhiya 2004 DNA SEQ 1/5 - cataract - - JdD - - - 1 India - - - -
-/? 5i c.449+82G>A
    + c.-27+77A>G, c.174-337G>A, c.449+9G>A, CRYGD (3), CRYGB (2)
IVS5+82G>A r.(?) p.(=) CRYBB2_00007 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal recessive posterior subcapsula family, 2 affecteds JdD - - - 1 India - - - -
+/? 5i c.(450-2G>T) mouse r.(449_450ins450-57_450-1{450-2a>u}) p.(Thr150_Trp151ins17) CRYBB2_00000 O377 mouse, radiation induced germline (inherited) Ganguly 2008 DNA, RNA RT-PCR, SEQ - - cataract, autosomal dominant, mouse zonular, progressive cataract - Ganguly 2008, JdD familial, autosomal dominant - - 1 - - - - -
+/? 6 c.453G>T
    + 10 others
465G>T r.(?) p.(Trp151Cys) CRYBB2_00017 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, congenital, cerulean type (CCA2) - 5-generation family, 9 affecteds JdD - - - 9 India - - - -
+/? 6 c.463C>T
    + c.=
- r.(?) p.(Gln155*) CRYBB2_00002 not in 62 control chromosomes germline (inherited) Litt 1997, (OMIM 0001) DNA SEQ - BfaI+ cataract, congenital, cerulean type (CCA2) Cerulean blue 4-generation family, 18 affecteds (1 homozygous) JdD familial, autosomal dominant - - 17 United States - - - -
+/? 6 c.463C>T
    + c.=
- r.(?) p.(Gln155*) CRYBB2_00002 mapped by linkage (LOD score 4.14); not in 230 control chromosomes germline (inherited) Gill 2000, (OMIM 0001) DNA SEQ - - cataract, Coppock-like (CCL) pulverulent opacification embryonal nucleus, gray disc appearance associated with zonular opacities (variable degree) 4-generation family, 13 affecteds JdD familial, autosomal dominant - - 13 Switzerland - - - -
+/? 6 c.463C>T
    + c.=
475C>T r.(?) p.(Gln155*) CRYBB2_00002 mapped by linkage (LOD score 6.26); not in 200 control chromosomes germline (inherited) Yao 2005 DNA SEQ - SpeI+ cataract, congenital, polymorphic progressive polymorphic 5-generation family, 19 affecteds JdD - - - 19 China - - - -
+/? 6 c.463C>T
    + c.=, c.471C>T
475C>T r.(?) p.(Gln155*) CRYBB2_00002 mapped by linkage; origin probable gene conversion with CRYBP1 germline (inherited) Vanita 2001, (OMIM 0001) DNA SEQ - BfaI+ cataract, sutural, punctate and cerulean opacities (CSPC) sutural and cerulean opacities 5-generation family, 33 affecteds JdD - - - 33 India - - - -
+/? 6 c.463C>T
    + c.463C>T
- r.(?) p.(Gln155*) CRYBB2_00002 not in 62 control chromosomes germline (inherited) Litt 1997, (OMIM 0001) DNA SEQ - BfaI+ cataract, congenital, cerulean type (CCA2) Cerulean blue homozygous case Fam ADCC-1 JdD familial, autosomal dominant, familial, autosomal dominant - - 1 United States - - - -
+/? 6 c.463C>T
    + c.463C>T
- r.(?) p.(Gln155*) CRYBB2_00002 not in 62 control chromosomes germline (inherited) Litt 1997, (OMIM 0001) DNA SEQ - BfaI+ cataract, congenital, cerulean type (CCA2) Cerulean blue homozygous case Fam ADCC-1 JdD familial, autosomal dominant, familial, autosomal dominant - - 1 United States - - - -
+/? 6 c.463C>T
    + c.=
- r.(?) p.(Gln155*) CRYBB2_00002 mapped by linkage (LOD score 4.14); not in 230 control chromosomes germline (inherited) Gill 2000 DNA SEQ - - cataract, congenital, cerulean type (CCA2) - unrelated patient JdD familial, autosomal dominant - - 1 Switzerland - - - -
+/? 6 c.463C>T
    + c.=
- r.(?) p.(Gln155*) CRYBB2_00002 mapped by linkage (LOD score 4.14); not in 230 control chromosomes germline (inherited) Gill 2000, (OMIM 0001) DNA SEQ - - cataract, Coppock-like (CCL) pulverulent opacification embryonal nucleus, gray disc appearance associated with zonular opacities (variable degree) 4-generation family, 13 affecteds JdD familial, autosomal dominant - - 13 Switzerland - - - -
+/? 6 c.463C>T
    + c.=, c.471C>T
475C>T r.(?) p.(Gln155*) CRYBB2_00002 mapped by linkage (LOD score 7.95); origin probable gene conversion with CRYBP1 germline (inherited) Bateman 2007 DNA SEQ - - cataract, autosomal dominant - 4-generation family, 19 affecteds JdD - - - 19 Chile - - - -
+/? 6 c.463C>T
    + c.=
475C>T r.(?) p.(Gln155*) CRYBB2_00002 mapped by linkage (LOD score 2.11); not in 200 control chromosomes germline (inherited) Li 2008 DNA DHPLC, SEQ - - cataract, congenital, autosomal dominant progressive polymorphic congenital coronary 5-generation family, 18 affecteds Li 2008, JdD - - - 18 China - - - -
+/? 6 c.463C>T
    + c.=
- r.(?) p.(Gln155*) CRYBB2_00002 not in 100 control chromosomes germline (inherited) Devi 2008 DNA SEQ - - cataract, autosomal dominant cortical, pulverulent opacities 4-generation family, 7 affecteds JdD familial, autosomal dominant - - 7 India - - - -
-/? 6 c.471C>T
    + c.=, c.463C>T
483C>T r.(?) p.(=) CRYBB2_00019 origin probable gene conversion with CRYBP1 germline (inherited) Vanita 2001, (OMIM 0002) DNA SEQ - MspI- cataract, sutural, punctate and cerulean opacities (CSPC) sutural and cerulean opacities 5-generation family, 33 affecteds JdD - - - 33 India - - - -
-/? 6 c.471C>T
    + c.=, c.463C>T
483C>T r.(?) p.(=) CRYBB2_00019 origin probable gene conversion with CRYBP1 germline (inherited) Bateman 2007 DNA SEQ - - cataract, autosomal dominant - 4-generation family, 19 affecteds JdD - - - 19 Chile - - - -
+/? 6 c.477C>A
    + c.=
498C>A r.(?) p.(Tyr159*) CRYBB2_00021 - germline (inherited) Hansen 2009 DNA SEQ - - cataract, autosomal dominant - 3-generation family, 2 affecteds (F) JdD - - - 2 Denmark - F - -
-/? 6 c.483G>A
    + 10 others
495A>G (G161G) r.(?) p.(=) CRYBB2_00008 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, congenital, cerulean type (CCA2) - 5-generation family, 9 affecteds JdD - - - 9 India - - - -
-/? 6 c.483G>A
    + c.-27+77A>G, c.449+9G>A, CRYGB (3), CRYGA (2)
495A>G (G161G) r.(?) p.(=) CRYBB2_00008 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, congenital, autosomal dominant variable lamellar / nuclear 4-generation family, 8 affecteds JdD familial, autosomal dominant, familial, autosomal dominant - - 1 India - - - -
-/? 6 c.483G>A
    + c.-27+77A>G, c.174-476G>A, c.174-337G>A, c.449+9G>A, CRYGB (1), CRYGA (1), CRYGD (3)
495A>G (G161G) r.(?) p.(=) CRYBB2_00008 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal recessive - family, 3 affecteds JdD familial, autosomal recessive, familial, autosomal recessive - - 1 India - - - -
-/? 6 c.483G>A
    + c.-27+77A>G, c.449+9G>A, CRYGB (1), CRYGA (1)
495A>G (G161G) r.(?) p.(=) CRYBB2_00008 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal dominant zonular 2-generation family, 2 affecteds JdD - - - 1 India - - - -
-/? 6 c.483G>A
    + c.-27+77A>G, CRYGA (1), CRYGD (3)
495A>G (G161G) r.(?) p.(=) CRYBB2_00008 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal recessive posterior polar/lenticonus, capsular dehiscence family, 1 affected JdD - - - 1 India - - - -
+/? 6 c.(554_565del)
    + c.=
mouse 577_588del r.(554_565del) p.(Gln185_Arg188del) CRYBB2_00000 variant in Philly mouse germline (inherited) Chambers 1991 DNA, RNA RT-PCR, SEQ - - cataract, autosomal dominant - - JdD - - - 1 - - - - -
+/? 6 c.559G>A
    + c.=
607G>A - p.(Val187Met) CRYBB2_00015 - germline (inherited) Mothobi 2009 DNA SEQ - NlaIII+ cataract, congenital, autosomal dominant - 3-generation family, 6 affecteds JdD familial, autosomal dominant - - 6 Lesotho Basotho ? - -
+/? 6 c.(560G>A)
    + c.(560G>A)
mouse 553T>A r.(560G>A) p.(Val187Glu) CRYBB2_00000 variant in Aey2 mouse, ENU indiced; mapped by linkage germline (inherited) Graw 2001 DNA, RNA RT-PCR, SEQ - - cataract, autosomal dominant progressive opacity - JdD - - - 1 - - - - -
+/? 6 c.(560G>A)
    + c.(560G>A)
mouse 553T>A r.(560G>A) p.(Val187Glu) CRYBB2_00000 variant in Aey2 mouse, ENU indiced; mapped by linkage germline (inherited) Graw 2001 DNA, RNA RT-PCR, SEQ - - cataract, autosomal dominant progressive opacity - JdD - - - 1 - - - - -
+/? 6 c.(560G>A)
    + c.=
mouse 553T>A r.(560G>A) p.(Val187Glu) CRYBB2_00000 variant in Aey2 mouse, ENU indiced; mapped by linkage germline (inherited) Graw 2001 DNA, RNA RT-PCR, SEQ - - cataract, autosomal dominant progressive opacity - JdD - - - 1 - - - - -
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Legend: [ CRYBB2 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: number of exon/intron containing variant; 02 = exon 2, 12i = intron 12, 01_08 = exons 1 to 8 DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. Var_pub_as: Var_pub_as RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Protein CRYBB2 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Variant remarks: Variant remarks Origin: origin of variant; unknown, germline (inherited), somatic, de novo, from parental disomy (maternal or paternal) or in vitro (cloned) when tested for functional consequences Reference: Reference Detection/Template: Detection/Template Detection/Technique: technique(s) used to identify the sequence variant; select multiple when more were used. For SEQ-NG indicate in the Remarks-column the number of reads showing the variant (e.g. 47/96 reads, 123/123 reads), select a second technique to indicate whether or not the variant was confirmed using another method (e.g. SEQ). Frequency: Frequency RE-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Disease: Disease phenotype Phenotype additional: Phenotype, additional features Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Inheritance: indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial) or isolated (sporadic) Consanguinity: ndicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown) Families/Patients: number of familes (patients) = number independent families (number affected patients), like 1 (2) for 1 family with 2 patients # Reported: Number of times this case has been reported Geographic origin: Geographic origin Ethnic origin: Ethnic origin Gender: individual's gender; ? = unknown, - = not applicable, F = female, M = male, rF = raised as female, rM = raised as male Age_onset: age at onset first disease symptoms; 20y (ate age 20 years), 13m (13 months), 7d (7 days) Phenotype_onset: Phenotype_onset