Unique variants in the CRYGD gene

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_006891.3 transcript reference sequence.

65 entries on 1 page. Showing entries 1 - 65.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. 1 3 c.? r.(?) p.(=) - benign g.? - T392C - CRYGD_000000 not seggregating with disease - - - Germline - - - - - Johan den Dunnen
?/. 1 - c.-36437G>T r.(?) p.(=) - VUS g.209025634C>A - CRYGA(NM_014617.3):c.419G>T (p.R140L) - C2orf80_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.-21419T>C r.(?) p.(=) - VUS g.209010616A>G g.208145892A>G CRYGB(NM_005210.3):c.134T>C (p.(Ile45Thr)) - CRYGB_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.-21374G>A r.(?) p.(=) - VUS g.209010571C>T g.208145847C>T CRYGB(NM_005210.3):c.179G>A (p.R60H) - CRYGB_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-21372G>A r.(?) p.(=) - VUS g.209010569C>T g.208145845C>T CRYGB(NM_005210.3):c.181G>A (p.G61R) - CRYGB_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.-21361T>C r.(?) p.(=) - benign g.209010558A>G g.208145834A>G - - CRYGB_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-21333G>A r.(?) p.(=) - likely benign g.209010530C>T g.208145806C>T CRYGB(NM_005210.3):c.220G>A (p.D74N) - CRYGB_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-21322C>T r.(?) p.(=) - likely benign g.209010519G>A - CRYGB(NM_005210.3):c.231C>T (p.R77=) - CRYGB_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-21301G>A r.(?) p.(=) - likely benign g.209010498C>T g.208145774C>T - - CRYGB_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-18369C>T r.(?) p.(=) - likely benign g.209007566G>A g.208142842G>A CRYGB(NM_005210.3):c.324C>T (p.D108=) - CRYGB_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-18166G>A r.(?) p.(=) - likely benign g.209007363C>T - CRYGB(NM_005210.3):c.527G>A (p.*176=) - CRYGB_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.-5319A>G r.(?) p.(=) - likely pathogenic g.208994516T>C g.208129792T>C CRYGC(NM_020989.3):c.1A>G (p.M1?) - CRYGC_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.-5159_-5157del r.(?) p.(=) - likely pathogenic g.208994354_208994356del g.208129630_208129632del CRYGC(NM_020989.3):c.61_63delACT (p.T21del) - CRYGB_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.-5100C>T r.(?) p.(=) - benign g.208994297G>A g.208129573G>A CRYGC(NM_020989.3):c.120C>T (p.S40=) - CRYGC_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-5068A>G r.(?) p.(=) - likely benign g.208994265T>C g.208129541T>C CRYGC(NM_020989.3):c.152A>G (p.(Tyr51Cys)) - CRYGC_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.-5066_-5057del r.(?) p.(=) - pathogenic g.208994256_208994265del g.208129532_208129541del - - CRYGC_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-5044G>A r.(?) p.(=) - likely benign g.208994241C>T g.208129517C>T CRYGC(NM_020989.3):c.176G>A (p.(Arg59Gln)) - CRYGB_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.-4990G>A r.(?) p.(=) - VUS g.208994187C>T - - - CRYGB_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-3938G>A r.(?) p.(=) - likely benign g.208993135C>T g.208128411C>T CRYGC(NM_020989.3):c.317G>A (p.S106N) - CRYGC_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.-3870G>T r.(?) p.(=) - likely pathogenic g.208993067C>A - CRYGC(NM_020989.3):c.385G>T (p.G129C) - CRYGC_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.-3853C>T r.(?) p.(=) - likely benign g.208993050G>A - CRYGC(NM_020989.3):c.402C>T (p.Y134=) - CRYGB_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-3830G>A r.(?) p.(=) - VUS g.208993027C>T - CRYGC(NM_020989.3):c.425G>A (p.R142Q) - CRYGB_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.-3785G>A r.(?) p.(=) - pathogenic g.208992982C>T g.208128258C>T CRYGC(NM_020989.3):c.470G>A (p.W157*) - CRYGC_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-3782G>A r.(?) p.(=) - VUS g.208992979C>T g.208128255C>T CRYGC(NM_020989.3):c.473G>A (p.G158E) - CRYGC_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-3758C>G r.(?) p.(=) - VUS g.208992955G>C g.208128231G>C - - CRYGC_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.10-7C>G r.(=) p.(=) - likely benign g.208989085G>C g.208124361G>C CRYGD(NM_006891.3):c.10-7C>G (p.(=)) - CRYGB_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.19T>C r.(?) p.(Tyr7His) - likely pathogenic g.208989069A>G g.208124345A>G - - CRYGD_000036 - PubMed: Huang 2015 - - Germline - - - - - LOVD
+/. 1 2 c.43C>A r.(?) p.(Arg15Ser) - pathogenic g.208989045G>T g.208124321G>T - - CRYGD_000012 mapped by linkage; not in 206 control chromosomes PubMed: Zhang 2009 - - Germline - - - - - Johan den Dunnen
+/. 2 2 c.43C>T r.(?) p.(Arg15Cys) - pathogenic g.208989045G>A g.208124321G>A C34T (R14C), C>T - CRYGD_000001 mapped by linkage, not in 400 control chromosomes, mapped by linkage; not in 200 control chromosomes PubMed: Gu 2006, PubMed: Stephan 1999, OMIM:var0001 - rs121909595 Germline - - HaeIII- - - Johan den Dunnen
-/. 10 2 c.51T>C r.(?) p.(=), p.(Tyr17=) - benign g.208989037A>G g.208124313A>G CRYGD(NM_006891.4):c.51T>C (p.Y17=), LOC100507443(NR_038437.1):n.97+5088A>G, T51C, Y17Y - CRYGD_000007 7/11 families tested, not seggregating with disease, variant in family, 1 more item PubMed: Santana 2009, PubMed: Santhiya 2004 - rs2242074 CLASSIFICATION record, Germline - 07/11/15 - - - Johan den Dunnen, VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/. 1 - c.63C>T r.(?) p.(Ser21=) - likely benign g.208989025G>A g.208124301G>A CRYGD(NM_006891.3):c.63C>T (p.S21=) - CRYGD_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/. 11 2 c.70C>A r.(?) p.(Pro24Thr), p.Pro24Thr - likely pathogenic, NA, pathogenic g.208989018G>T g.208124294G>T 305C>A (P23T), c.70C-->A; p.Pro24Thr, C>A (P23T), P23T - CRYGD_000002 expression cloning, less soluble in HLE B-3 cells, mapped by linkage; not in 200 control chromosomes, 4 more items PubMed: Burdon 2004, PubMed: Khan 2009, PubMed: Mackay 2004, PubMed: Nandrot 2003, OMIM:var0004, 3 more items - rs28931605 Germline, Germline/De novo (untested), In vitro (cloned) ?, yes - - - - Johan den Dunnen, Jamie Zeegers
+/. 1 2 c.70C>T r.(?) p.(Pro24Ser) - pathogenic g.208989018G>A g.208124294G>A - - CRYGD_000003 mapped by linkage; not in 512 control chromosomes PubMed: Plotnikova 2007, OMIM:var0007 - rs28931605 Germline - - - - - Johan den Dunnen
-/. 3 2 c.81G>A r.(=), r.(?) p.(Gln27=) - benign g.208989007C>T g.208124283C>T Q26Q - CRYGD_000027 - - - - Germline yes - - - - Johan den Dunnen
+/. 1 2 c.104C>T r.(?) p.(Ser35Leu) - pathogenic (dominant) g.208988984G>A g.208124260G>A 104G>A (Ser35Leu) - CRYGD_000035 - Zheng ASHG2018 P1223 - - Germline yes - - 1 - Johan den Dunnen
+/., +?/. 4 2 c.109C>A r.(?) p.(Arg37Ser), p.Arg37Ser - likely pathogenic, pathogenic g.208988979G>T g.208124255G>T R36S - CRYGD_000005 - PubMed: Gu 2005, PubMed: Kmoch 2000, OMIM:var0003, PubMed: VanderVeen 2011 - rs121909597 Germline yes - - - - Johan den Dunnen, Jamie Zeegers
+?/. 5 2 c.110G>C r.(?) p.(Arg37Pro) - likely pathogenic g.208988978C>G g.208124254C>G - - CRYGD_000023 - PubMed: Wang 2011 - - Germline yes - - - - Jamie Zeegers
+?/. 1 - c.127T>C r.(?) p.(Trp43Arg) ACMG likely pathogenic g.208988961A>G g.208124237A>G CRYGD c.127T>C p.(Trp43Arg) het - CRYGD_000037 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - LOVD
-?/. 1 - c.130A>G r.(?) p.(Met44Val) - likely benign g.208988958T>C g.208124234T>C CRYGD(NM_006891.3):c.130A>G (p.M44V) - CRYGD_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., -/. 4 2 c.168C>G r.(?) p.(Tyr56*), p.(Tyr56Ter) - benign, pathogenic, VUS g.208988920G>C g.208124196G>C CRYGD(NM_006891.3):c.168C>G (p.Y56*) - CRYGD_000011 VKGL data sharing initiative Nederland PubMed: Dudakova 2017, PubMed: Santana 2009 - - CLASSIFICATION record, Germline yes - - - - Johan den Dunnen, VKGL-NL_Rotterdam
+/. 3 2 c.176G>A r.(?) p.(Arg59His) - pathogenic g.208988912C>T g.208124188C>T 411G>A (R58H) - CRYGD_000004 mapped by linkage, not in 210 control chromosomes PubMed: Heon 1999, OMIM:var0002 - rs121909596 Germline - - - - - Johan den Dunnen
+/. 1 2 c.181G>T r.(?) p.(Gly61Cys) - pathogenic g.208988907C>A g.208124183C>A - - CRYGD_000009 mapped by linkage (LOD score 3.31); not in 100 control chromosomes PubMed: Li 2008 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.188A>G r.(?) p.(Tyr63Cys) - likely benign g.208988900T>C g.208124176T>C - - CRYGD_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 2 c.229C>A c.229C>A p.Arg77Ser - pathogenic g.208988859G>T g.208124135G>T - - CRYGD_000016 - PubMed: Roshan 2010 - - Germline - 100 Alu1 - - Lars Hansen
-?/. 1 - c.240C>T r.(?) p.(Arg80=) - likely benign g.208988848G>A g.208124124G>A CRYGD(NM_006891.3):c.240C>T (p.R80=) - CRYGD_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.252+7A>G r.(=) p.(=) - likely benign g.208988829T>C g.208124105T>C CRYGD(NM_006891.3):c.252+7A>G - CRYGB_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 2i c.252+30C>T r.(?) p.(=) - benign g.208988806G>A g.208124082G>A IVS2+30 (517T>C) - CRYGD_000017 - PubMed: Santhiya 2006 - - Germline - - - - - Johan den Dunnen
-/. 1 2i c.252+83T>C r.(?) p.(=) - benign g.208988753A>G g.208124029A>G IVS2+83 (570C>T) - CRYGD_000018 - PubMed: Santhiya 2006 - - Germline - - - - - Johan den Dunnen
-/. 10 3 c.285A>G r.(?) p.(=), p.(Arg95=) - benign g.208986637T>C g.208121913T>C 285G>A (R95R), CRYGD(NM_006891.4):c.285A>G (p.R95=), LOC100507443(NR_038437.1):n.97+2688T>C, 1 more item - CRYGD_000006 9/11 families tested, variant in family, VKGL data sharing initiative Nederland PubMed: Khan 2009, PubMed: Santana 2009, PubMed: Santhiya 2004 - rs2305430 CLASSIFICATION record, Germline no 09/11/15 - - - Johan den Dunnen, VKGL-NL_Groningen
+/. 1 3 c.320A>C r.(?) p.(Glu107Ala) - pathogenic g.208986602T>G g.208121878T>G - - CRYGD_000013 not in 340 control chromosomes; probable germline mosaicism mother PubMed: Messina-Baas 2006 - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.347del r.(?) p.(Phe116Serfs*31) - pathogenic g.208986576del g.208121852del 346delT (F116Sfsx29) - CRYGD_000021 - - - - Germline - - BsrBI+ - - Juhua Yang
?/. 1 - c.376G>A r.(?) p.(Val126Met) - VUS g.208986546C>T g.208121822C>T CRYGD(NM_006891.3):c.376G>A (p.V126M) - CRYGD_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 2 3 c.401A>G r.(?) p.(Tyr134Cys) - likely pathogenic g.208986521T>C g.208121797T>C - - CRYGD_000026 variant heterozygous in 1 affected and 1 unaffected relative PubMed: de Figueiredo 2011 - - Germline - - - - - Jamie Zeegers
+/. 1 3 c.402C>A r.(?) p.(Tyr134*) - pathogenic g.208986520G>T g.208121796G>T 418C>A - CRYGD_000015 not in 100 control chromosomes PubMed: Hansen 2007, PubMed: 19182255 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.408G>A r.(?) p.(Leu136=) - likely benign g.208986514C>T g.208121790C>T CRYGD(NM_006891.3):c.408G>A (p.L136=) - CRYGB_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/. 4 3 c.418C>T r.(?) p.(Arg140*) - likely pathogenic, pathogenic g.208986504G>A g.208121780G>A c.418C-->T; p.Arg140* - CRYGD_000010 no Sanger sequencing; heterozygous PubMed: Devi 2008, PubMed: Patel 2019, PubMed: Zhai 2014, Journal: Zhai 2014 - - De novo, Germline ?, yes - - - - Johan den Dunnen, Jamie Zeegers
-?/. 1 - c.435G>A r.(?) p.(Leu145=) - likely benign g.208986487C>T g.208121763C>T CRYGD(NM_006891.3):c.435G>A (p.L145=) - CRYGB_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 3 c.448_451dup r.(?) p.(Tyr151*) - pathogenic g.208986471_208986474dup g.208121747_208121750dup 451_452insGACT - CRYGD_000025 - PubMed: Zhuang 2015, Journal: Zhuang 2015 - - Germline yes - - - - Jamie Zeegers
?/. 1 3 c.453T>G r.(?) p.(Tyr151*) - VUS g.208986469A>C g.208121745A>C - - CRYGD_000022 - PubMed: Gillespie 2014, Journal: Gillespie 2014 - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.470G>A r.(?) p.(Trp157*) - pathogenic g.208986452C>T g.208121728C>T - - CRYGD_000014 - PubMed: Santhiya 2002, OMIM:var0005 - rs2242074 Germline - - - - - Johan den Dunnen
+/. 2 3 c.494del r.(?) p.(Gly165Alafs*3), p.Gly165Alafs*3 - NA, pathogenic g.208986430del g.208121706del - - CRYGD_000008 not in 106 control chromosomes, 1 more item PubMed: Zhang 2007 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen
-/. 7 3 c.*12T>C r.(=), r.(?) p.(=) - benign g.208986385A>G g.208121661A>G 537C>T, CRYGD(NM_006891.4):c.*12T>C, LOC100507443(NR_038437.1):n.97+2436A>G - CRYGD_000019 VKGL data sharing initiative Nederland PubMed: Khan 2009, PubMed: Santhiya 2004 - rs2305429 CLASSIFICATION record, Germline no - - - - Johan den Dunnen, VKGL-NL_Groningen
-/. 1 3 c.*39A>T r.(?) p.(=) - benign g.208986358T>A g.208121634T>A 564A>T - CRYGD_000020 - PubMed: Santhiya 2004 - - Germline - - - - - Johan den Dunnen
-/. 1 3_ c.*348C>T r.(=) p.(=) - benign g.208986049G>A g.208121325G>A - - CRYGD_000028 - PubMed: Khan 2009 - rs6435415 Germline no - - - - Johan den Dunnen
-/. 1 3_ c.*494T>C r.(=) p.(=) - benign g.208985903A>G g.208121179A>G - - CRYGD_000029 - PubMed: Khan 2009 - rs966932 Germline no - - - - Johan den Dunnen
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Amino acid numbering includes the N-terminal methionine as number 1. Most annotations of CRYGD are numbered from Gly at position 2, corresponding to the processed N-terminal methionine-lacking CRYGD-protein