Unique variants in the CRYGC gene

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_020989.3 transcript reference sequence.

51 entries on 1 page. Showing entries 1 - 51.
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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 - c.-31118G>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.-16100T>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.-16055G>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.-16053G>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.-16042T>C r.(?) p.(=) - benign g.209010558A>G g.208145834A>G - - CRYGB_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-16014G>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.-16003C>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.-15982G>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.-13050C>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.-12847G>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.1A>G r.(?) p.(Met1?) - 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 1i c.10-1G>A r.spl p.? - likely pathogenic g.208994408C>T g.208129684C>T 20899414C>T - CRYGC_000014 - - - - Germline yes - - - - Zongfu Cao
+/. 5 2 c.13A>C r.(?) p.(Thr5Pro), p.Thr5Pro - NA, pathogenic g.208994404T>G g.208129680T>G 225A>C - CRYGC_000001 not in 430 control chromosomes, 1 more item PubMed: Fu 2003, OMIM:var0001, PubMed: Heon 1999, OMIM:var0001 - rs104893618 Germline, In vitro (cloned) - - - - - Johan den Dunnen
-/. 1 2 c.33C>T r.(?) p.(=) - benign g.208994384G>A g.208129660G>A A11A - CRYGC_000004 - PubMed: Santhiya 2002 - - Germline - 01/17/15 - - - Johan den Dunnen
+?/. 2 - c.61_63del r.(?) p.(Thr21del) - likely pathogenic g.208994354_208994356del g.208129630_208129632del CRYGC(NM_020989.3):c.61_63delACT (p.T21del) - CRYGB_000017 no genotypes reported, VKGL data sharing initiative Nederland PubMed: Sergouniotis 2016 - - CLASSIFICATION record, Germline - 1/181 individuals - - - VKGL-NL_Rotterdam
+?/. 1 - c.110G>A r.(?) p.(Arg37Gln) - likely pathogenic g.208994307C>T g.208129583C>T - - CRYGC_000023 - PubMed: Huang 2015 - - Germline - - - - - LOVD
+/. 1 2 c.119_123dup r.(?) p.(Cys42Alafs*63) - pathogenic g.208994294_208994298dup g.208129570_208129574dup - - CRYGC_000002 mapped by linkage (LOD score 6.0) PubMed: Ren 2000, OMIM:var0002 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.120C>T r.(?) p.(Ser40=) - 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
+/. 2 2 c.124del r.(?) p.(Cys42Alafs*61) - pathogenic g.208994293del g.208129569del - - CRYGC_000013 - PubMed: Kondo 2013 - - Germline yes - - - - Jamie Zeegers
+?/. 1 2 c.134T>C r.(?) p.(Leu45Pro) - likely pathogenic g.208994283A>G g.208129559A>G - - CRYGC_000011 - PubMed: Gillespie 2014, Journal: Gillespie 2014 - - Germline - - - - - Johan den Dunnen
?/. 2 2 c.143G>A r.(?) p.(Arg48His) - VUS g.208994274C>T g.208129550C>T - - CRYGC_000004 not in 240 control chromosomes ESHG2010 Gonzalez-Huerta P12.034, PubMed: Santhiya 2002 - - Germline - 03/17/15 HgaI - - Johan den Dunnen
-?/. 1 - c.152A>G r.(?) p.(Tyr51Cys) - 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.154_163del r.(?) p.(Gln52AsnfsTer48) - pathogenic g.208994256_208994265del g.208129532_208129541del - - CRYGC_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.176G>A r.(?) p.(Arg59Gln) - 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.230G>A r.(?) p.(Arg77His) - VUS g.208994187C>T - - - CRYGB_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.317G>A r.(?) p.(Ser106Asn) - 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 3 c.327C>A r.(?) p.(Cys109*) - pathogenic g.208993125G>T g.208128401G>T - - CRYGC_000005 not in 100 control chromosomes PubMed: Yao 2008 - - Germline - - - - - Johan den Dunnen
-/. 1 3 c.357C>T r.(?) p.(=) - benign g.208993095G>A g.208128371G>A C>T S119S - CRYGC_000007 not in 100 control chromosomes; 1/11 families tested (5/7 affecteds) PubMed: Santana 2009 - - Germline - - 01/11/15 - - Johan den Dunnen
+/., +?/. 2 3 c.385G>T r.(?) p.(Gly129Cys) - likely pathogenic, pathogenic g.208993067C>A g.208128343C>A CRYGC(NM_020989.3):c.385G>T (p.G129C) - CRYGC_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Lu Cailing, VKGL-NL_VUmc
+/. 1 3 c.402C>G r.(?) p.(Tyr134*) - pathogenic g.208993050G>C g.208128326G>C - - CRYGC_000010 - PubMed: Gillespie 2014, Journal: Gillespie 2014 - - De novo - - - - - Johan den Dunnen
-?/. 1 - c.402C>T r.(?) p.(Tyr134=) - 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.425G>A r.(?) p.(Arg142Gln) - 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
+/. 3 3 c.470G>A r.(?) p.(Trp157*), p.(Trp157Ter) ACMG pathogenic g.208992982C>T g.208128258C>T CRYGC(NM_020989.3):c.470G>A (p.W157*) - CRYGC_000006 not in 200 control chromosomes, VKGL data sharing initiative Nederland, 1 more item PubMed: Zhang 2009 - rs398122392 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, Andreas Laner, VKGL-NL_Rotterdam
+/. 6 3 c.471G>A r.(?) p.(Trp157*) - pathogenic g.208992981C>T g.208128257C>T - - CRYGC_000012 - PubMed: Guo 2012 - - Germline yes - - - - Jamie Zeegers
?/. 1 - c.473G>A r.(?) p.(Gly158Glu) - 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.497C>G r.(?) p.(Ser166Cys) - VUS g.208992955G>C g.208128231G>C - - CRYGC_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 3 c.497C>T r.(?) p.(Ser166Phe) - VUS g.208992955G>A g.208128231G>A - - CRYGC_000009 - - - - Unknown - - - - - Ivan Prokudin
+/., ?/. 4 3 c.502C>T r.(?) p.(Arg168Trp) - pathogenic, VUS g.208992950G>A g.208128226G>A - - CRYGC_000003 62 heterozygous, no homozygous; Clinindb (India) PubMed: Devi 2008, PubMed: Gonzalez-Huerta 2007, PubMed: Narang 2020, Journal: Narang 2020, 1 more item - rs28931604 Germline - 62/2794 individuals - - - Johan den Dunnen, Mohammed Faruq
-?/. 1 - c.*3842C>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
-/. 2 - c.*3890T>C r.(=) p.(=) - benign g.208989037A>G g.208124313A>G CRYGD(NM_006891.4):c.51T>C (p.Y17=), LOC100507443(NR_038437.1):n.97+5088A>G - CRYGD_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/. 1 - c.*3902C>T r.(=) p.(=) - 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
-?/. 1 - c.*3969A>G r.(=) p.(=) - 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
-/. 1 - c.*4007C>G r.(=) p.(=) - benign g.208988920G>C g.208124196G>C CRYGD(NM_006891.3):c.168C>G (p.Y56*) - CRYGD_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*4027A>G r.(=) p.(=) - likely benign g.208988900T>C g.208124176T>C - - CRYGD_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.*4079C>T r.(=) p.(=) - 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.*4098A>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 - c.*6290A>G r.(=) p.(=) - benign g.208986637T>C g.208121913T>C CRYGD(NM_006891.4):c.285A>G (p.R95=), LOC100507443(NR_038437.1):n.97+2688T>C - CRYGD_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.*6381G>A r.(=) p.(=) - 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
-?/. 1 - c.*6413G>A r.(=) p.(=) - 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
-?/. 1 - c.*6440G>A r.(=) p.(=) - 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 - c.*6542T>C r.(=) p.(=) - benign g.208986385A>G g.208121661A>G CRYGD(NM_006891.4):c.*12T>C, LOC100507443(NR_038437.1):n.97+2436A>G - CRYGD_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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