Full data view for gene CRYGD

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.

119 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. 3 c.? r.(?) p.(=) Parent #2 - benign g.? - T392C - CRYGD_000000 not seggregating with disease - - - Germline - - - 0 - DNA SEQ - - Healthy/Control - - - - - Mongolia Asian, central; white - 0 - - 1 Johan den Dunnen
?/. - c.-36437G>T r.(?) p.(=) Unknown - VUS g.209025634C>A - CRYGA(NM_014617.3):c.419G>T (p.R140L) - C2orf80_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-21419T>C r.(?) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-21374G>A r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-21372G>A r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-21361T>C r.(?) p.(=) Unknown - benign g.209010558A>G g.208145834A>G - - CRYGB_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-21333G>A r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-21322C>T r.(?) p.(=) Unknown - likely benign g.209010519G>A - CRYGB(NM_005210.3):c.231C>T (p.R77=) - CRYGB_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-21301G>A r.(?) p.(=) Unknown - likely benign g.209010498C>T g.208145774C>T - - CRYGB_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-18369C>T r.(?) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-18166G>A r.(?) p.(=) Unknown - likely benign g.209007363C>T - CRYGB(NM_005210.3):c.527G>A (p.*176=) - CRYGB_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-5319A>G r.(?) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.-5159_-5157del r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-5100C>T r.(?) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-5068A>G r.(?) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.-5066_-5057del r.(?) p.(=) Unknown - pathogenic g.208994256_208994265del g.208129532_208129541del - - CRYGC_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-5044G>A r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4990G>A r.(?) p.(=) Unknown - VUS g.208994187C>T - - - CRYGB_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3938G>A r.(?) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.-3870G>T r.(?) p.(=) Unknown - likely pathogenic g.208993067C>A - CRYGC(NM_020989.3):c.385G>T (p.G129C) - CRYGC_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3853C>T r.(?) p.(=) Unknown - likely benign g.208993050G>A - CRYGC(NM_020989.3):c.402C>T (p.Y134=) - CRYGB_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3830G>A r.(?) p.(=) Unknown - VUS g.208993027C>T - CRYGC(NM_020989.3):c.425G>A (p.R142Q) - CRYGB_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-3785G>A r.(?) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-3782G>A r.(?) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-3758C>G r.(?) p.(=) Unknown - VUS g.208992955G>C g.208128231G>C - - CRYGC_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.10-7C>G r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.19T>C r.(?) p.(Tyr7His) Unknown - likely pathogenic g.208989069A>G g.208124345A>G - - CRYGD_000036 - PubMed: Huang 2015 - - Germline - - - 0 - DNA SEQ-NG - gene panel glaucoma G598 PubMed: Huang 2015 family F - China - - 0 - - 1 LOVD
+/. 2 c.43C>A r.(?) p.(Arg15Ser) Parent #1 - pathogenic g.208989045G>T g.208124321G>T - - CRYGD_000012 mapped by linkage; not in 206 control chromosomes PubMed: Zhang 2009 - - Germline - - - 0 - DNA SEQ - - CTRCT - - 3-generation family, 8 affecteds - - China - - 0 - - 8 Johan den Dunnen
+/. 2 c.43C>T r.(?) p.(Arg15Cys) Parent #1 - pathogenic g.208989045G>A g.208124321G>A C>T - CRYGD_000001 mapped by linkage, not in 400 control chromosomes PubMed: Stephan 1999, OMIM:var0001 - rs121909595 Germline - - HaeIII- 0 - DNA SSCA, SEQ - - CTRCT - - 4-generation family, 11 affecteds - - United States - - 0 - - 11 Johan den Dunnen
+/. 2 c.43C>T r.(?) p.(Arg15Cys) Parent #1 - pathogenic g.208989045G>A g.208124321G>A C34T (R14C) - CRYGD_000001 mapped by linkage; not in 200 control chromosomes PubMed: Gu 2006 - rs121909595 Germline - - - 0 - DNA DHPLC, SEQ - - CTRCT - - 6-generation family, 25 affecteds - - China - - 0 - - 25 Johan den Dunnen
-/. 2 c.51T>C r.(?) p.(=) Parent #2 - benign g.208989037A>G g.208124313A>G T51C - CRYGD_000007 not seggregating with disease - - rs2242074 Germline - - - 0 - DNA SEQ - - Healthy/Control - - - - - Mongolia Asian, central; white - 0 - - 1 Johan den Dunnen
-/. 2 c.51T>C r.(?) p.(=) Unknown - benign g.208989037A>G g.208124313A>G Y17Y - CRYGD_000007 7/11 families tested PubMed: Santana 2009 - rs2242074 Germline - 07/11/15 - 0 - DNA SEQ - - CTRCT - - - - - Brazil - - 0 - - 7 Johan den Dunnen
-/. 2 c.51T>C r.(?) p.(=) Unknown - benign g.208989037A>G g.208124313A>G Y17Y - CRYGD_000007 - PubMed: Santhiya 2004 - rs2242074 Germline - - - 0 - DNA SEQ - - CTRCT - - family, 1 affected - - India - - 0 - - 1 Johan den Dunnen
-/. 2 c.51T>C r.(?) p.(=) Unknown - benign g.208989037A>G g.208124313A>G Y17Y - CRYGD_000007 - PubMed: Santana 2009 - rs2242074 Germline - - - 0 - DNA SEQ - - CTRCT - - affected father, dauther and son - - Brazil - - 0 - - 3 Johan den Dunnen
-/. 2 c.51T>C r.(?) p.(=) Unknown - benign g.208989037A>G g.208124313A>G Y17Y - CRYGD_000007 variant in family PubMed: Santana 2009 - rs2242074 Germline - - - 0 - DNA SEQ - - CTRCT - - - - - Brazil - - 0 - - 5 Johan den Dunnen
-/. 2 c.51T>C r.(?) p.(=) Unknown - benign g.208989037A>G g.208124313A>G Y17Y - CRYGD_000007 - PubMed: Santhiya 2004 - rs2242074 Germline - - - 0 - DNA SEQ - - CTRCT - - 3-generation family, 6 affecteds - - India - - 0 - - 1 Johan den Dunnen
-/. 2 c.51T>C r.(?) p.(=) Unknown - benign g.208989037A>G g.208124313A>G Y17Y - CRYGD_000007 - PubMed: Santhiya 2004 - rs2242074 Germline - - - 0 - DNA SEQ - - CTRCT - - family, 3 affecteds - - India - - 0 - - 1 Johan den Dunnen
-/. 2 c.51T>C r.(?) p.(=) Unknown - benign g.208989037A>G g.208124313A>G Y17Y - CRYGD_000007 - PubMed: Santhiya 2004 - rs2242074 Germline - - - 0 - DNA SEQ - - CTRCT - - family, 2 affecteds - - India - - 0 - - 1 Johan den Dunnen
-/. - c.51T>C r.(?) p.(Tyr17=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.51T>C r.(?) p.(Tyr17=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.63C>T r.(?) p.(Ser21=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.70C>A r.(?) p.(Pro24Thr) Parent #1 - pathogenic g.208989018G>T g.208124294G>T P23T - CRYGD_000002 - PubMed: Santhiya 2002, OMIM:var0004 - rs28931605 Germline - - - 0 - DNA SEQ - - CTRCT - - affected father and daugther - - India - - 0 - - 2 Johan den Dunnen
+/. 2 c.70C>A r.(?) p.(Pro24Thr) Parent #1 - pathogenic g.208989018G>T g.208124294G>T 305C>A (P23T) - CRYGD_000002 mapped by linkage; not in 200 control chromosomes PubMed: Nandrot 2003, OMIM:var0004 - rs28931605 Germline - - - 0 - DNA SEQ - - CTRCT - - 5-generation family, 19 affecteds - - Morocco - - 0 - - 19 Johan den Dunnen
+/. 2 c.70C>A r.(?) p.(Pro24Thr) Parent #1 - pathogenic g.208989018G>T g.208124294G>T C>A (P23T) - CRYGD_000002 linked by mapping (LOD score 3.81); not in 340 control chromosomes PubMed: Mackay 2004 - rs28931605 Germline - - - 0 - DNA SEQ - - CTRCT - - 4-generation family, 8 affecteds - - United States Caucasian - 0 - - 8 Johan den Dunnen
+/. 2 c.70C>A r.(?) p.Pro24Thr Unknown - NA g.208989018G>T g.208124294G>T - - CRYGD_000002 expression cloning, less soluble in HLE B-3 cells PubMed: Mackay 2004 - rs28931605 In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.70C>A r.(?) p.Pro24Thr Parent #1 - pathogenic g.208989018G>T g.208124294G>T - - CRYGD_000002 mapped by linkage; not in 206 control chromosomes PubMed: Zhang 2009 - rs28931605 Germline - - - 0 - DNA SEQ - - CTRCT - - 4-generation family, 7 affecteds - - China - - 0 - - 7 Johan den Dunnen
+/. 2 c.70C>A r.(?) p.(Pro24Thr) Parent #1 - pathogenic g.208989018G>T g.208124294G>T 305C>A (P23T) - CRYGD_000002 mapped by linkage (LOD score 3.72); not in 200 control chromosomes PubMed: Burdon 2004 - rs28931605 Germline - - - 0 - DNA SSCA, SEQ - - CTRCT - - 5-generation family, 21 affecteds - - United States - - 0 - - 21 Johan den Dunnen
+?/. 2 c.70C>A r.(?) p.(Pro24Thr) Paternal (confirmed) - likely pathogenic g.208989018G>T g.208124294G>T P23T - CRYGD_000002 - PubMed: Khan 2009 - - Germline yes - - 0 - DNA PCR, SEQ - - CCTRCT 19633732-Fam1PatII5 PubMed: Khan 2009 2-generation family, 5-affecteds (5M), PatII5 M no Saudi Arabia - >04y 0 - - 5 Jamie Zeegers
+?/. 2 c.70C>A r.(?) p.(Pro24Thr) Paternal (confirmed) - likely pathogenic g.208989018G>T g.208124294G>T P23T - CRYGD_000002 - PubMed: Khan 2009 - - Germline yes - - 0 - DNA PCR - - CCTRCT 19633732-Fam1PatII4 PubMed: Khan 2009 PatII4 M no Saudi Arabia - >06y 0 - - 1 Jamie Zeegers
+?/. 2 c.70C>A r.(?) p.(Pro24Thr) Paternal (confirmed) - likely pathogenic g.208989018G>T g.208124294G>T P23T - CRYGD_000002 - PubMed: Khan 2009 - - Germline yes - - 0 - DNA PCR - - CCTRCT 19633732-Fam1PatII1 PubMed: Khan 2009 PatII1 M no Saudi Arabia - - 0 - Surgery 1 Jamie Zeegers
+?/. 2 c.70C>A r.(?) p.(Pro24Thr) Parent #1 - likely pathogenic g.208989018G>T g.208124294G>T P23T - CRYGD_000002 - PubMed: Khan 2009 - - Germline/De novo (untested) - - - 0 - DNA PCR - - CCTRCT 19633732-Fam2PatII1 PubMed: Khan 2009 2-generation family, 1 affected F yes Saudi Arabia - >07y 0 - - 1 Jamie Zeegers
+?/. - c.70C>A r.(?) p.(Pro24Thr) Unknown - likely pathogenic g.208989018G>T g.208124294G>T c.70C-->A; p.Pro24Thr - CRYGD_000002 no Sanger sequencing; heterozygous PubMed: Patel 2019 - - Germline ? - - 0 - DNA SEQ-NG blood - CTRCT-4 191 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - 0 - - 1 LOVD
+/. 2 c.70C>T r.(?) p.(Pro24Ser) Parent #1 - pathogenic g.208989018G>A g.208124294G>A - - CRYGD_000003 mapped by linkage; not in 512 control chromosomes PubMed: Plotnikova 2007, OMIM:var0007 - rs28931605 Germline - - - 0 - DNA SEQ - - CTRCT - - 7-generation family, 77 affecteds - - Mongolia Asian, central; white - 0 - - 77 Johan den Dunnen
-/. 2 c.81G>A r.(=) p.(Gln27=) Paternal (confirmed) - benign g.208989007C>T g.208124283C>T Q26Q - CRYGD_000027 - - - - Germline yes - - 0 - DNA PCR - - CCTRCT 19633732-Fam1PatII1 PubMed: Khan 2009 PatII1 M no Saudi Arabia - - 0 - Surgery 1 Jamie Zeegers
-/. 2 c.81G>A r.(?) p.(Gln27=) Paternal (confirmed) - benign g.208989007C>T g.208124283C>T Q26Q - CRYGD_000027 - - - - Germline yes - - 0 - DNA PCR - - CCTRCT 19633732-Fam1PatII4 PubMed: Khan 2009 PatII4 M no Saudi Arabia - >06y 0 - - 1 Jamie Zeegers
-/. 2 c.81G>A r.(?) p.(Gln27=) Paternal (confirmed) - benign g.208989007C>T g.208124283C>T Q26Q - CRYGD_000027 - - - - Germline yes - - 0 - DNA PCR, SEQ - - CCTRCT 19633732-Fam1PatII5 PubMed: Khan 2009 2-generation family, 5-affecteds (5M), PatII5 M no Saudi Arabia - >04y 0 - - 5 Jamie Zeegers
+/. 2 c.104C>T r.(?) p.(Ser35Leu) Parent #1 - pathogenic (dominant) g.208988984G>A g.208124260G>A 104G>A (Ser35Leu) - CRYGD_000035 - Zheng ASHG2018 P1223 - - Germline yes - - 1 - DNA SEQ - - CTRCT ASHG2018-P1223 Zheng ASHG2018 P1223 3-generation family, 3 affecteds F;M no China - - 0 - - 3 Johan den Dunnen
+/. 2 c.109C>A r.(?) p.(Arg37Ser) Parent #1 - pathogenic g.208988979G>T g.208124255G>T - - CRYGD_000005 - PubMed: Gu 2005 - rs121909597 Germline - - - 0 - DNA SEQ - - CTRCT - - 4-generation family, 7 affecteds - - China - - 0 - - 7 Johan den Dunnen
+/. 2 c.109C>A r.(?) p.Arg37Ser Parent #1 - pathogenic g.208988979G>T g.208124255G>T R36S - CRYGD_000005 - PubMed: Kmoch 2000, OMIM:var0003 - rs121909597 Germline - - - 0 - DNA, protein SEQ, MS - - CTRCT - - - - - Czech Republic - - 0 - - 1 Johan den Dunnen
+?/. 2 c.109C>A r.(?) p.(Arg37Ser) Parent #1 - likely pathogenic g.208988979G>T g.208124255G>T - - CRYGD_000005 - PubMed: VanderVeen 2011 - - Germline yes - - 0 - DNA PCR, SEQ - - CCTRCT 22219628-Fam1PatV1 PubMed: VanderVeen 2011 5-generation family, 18 affecteds (12F, 6M), PatV1 F - United States European, north - 0 - - 18 Jamie Zeegers
+?/. 2 c.109C>A r.(?) p.(Arg37Ser) Parent #1 - likely pathogenic g.208988979G>T g.208124255G>T - - CRYGD_000005 - PubMed: VanderVeen 2011 - - Germline yes - - 0 - DNA PCR, SEQ - - CCTRCT 22219628-Fam2PatIII1 PubMed: VanderVeen 2011 3-generation family, affected mother/son, PatIII1 M - United States Iranian - 0 - - 2 Jamie Zeegers
+?/. 2 c.110G>C r.(?) p.(Arg37Pro) Paternal (confirmed) - likely pathogenic g.208988978C>G g.208124254C>G - - CRYGD_000023 - PubMed: Wang 2011 - - Germline yes - - 0 - DNA PCR - - CCTRCT 21527994-FamPatI1 PubMed: Wang 2011 3-generation family with 5 affecteds (2F, 3M), PatI1 F - China Chinese - 0 - Surgery 5 Jamie Zeegers
+?/. 2 c.110G>C r.(?) p.(Arg37Pro) Maternal (confirmed) - likely pathogenic g.208988978C>G g.208124254C>G - - CRYGD_000023 - PubMed: Wang 2011 - - Germline yes - - 0 - DNA PCR - - CCTRCT 21527994-FamPatII1 PubMed: Wang 2011 PatII1 M - China Chinese - 0 - Surgery 1 Jamie Zeegers
+?/. 2 c.110G>C r.(?) p.(Arg37Pro) Paternal (confirmed) - likely pathogenic g.208988978C>G g.208124254C>G - - CRYGD_000023 - PubMed: Wang 2011 - - Germline yes - - 0 - DNA PCR - - CCTRCT 21527994-FamPatIII1 PubMed: Wang 2011 PatIII1 M - China Chinese - 0 - Surgery 1 Jamie Zeegers
+?/. 2 c.110G>C r.(?) p.(Arg37Pro) Maternal (confirmed) - likely pathogenic g.208988978C>G g.208124254C>G - - CRYGD_000023 - PubMed: Wang 2011 - - Germline yes - - 0 - DNA PCR - - CCTRCT 21527994-FamPatII3 PubMed: Wang 2011 PatII3 F - China Chinese - 0 - - 1 Jamie Zeegers
+?/. 2 c.110G>C r.(?) p.(Arg37Pro) Maternal (confirmed) - likely pathogenic g.208988978C>G g.208124254C>G - - CRYGD_000023 - PubMed: Wang 2011 - - Germline yes - - 0 - DNA PCR - - CCTRCT 21527994-FamPatII7 PubMed: Wang 2011 PatII7 M - China Chinese - 0 - - 1 Jamie Zeegers
+?/. - c.127T>C r.(?) p.(Trp43Arg) Unknown ACMG likely pathogenic g.208988961A>G g.208124237A>G CRYGD c.127T>C p.(Trp43Arg) het - chr2_020005 heterozygous PubMed: Lenassi 2020 - - Germline ? - - 0 - DNA SEQ-NG blood 114 genes panel tested retinal disease 15010948 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - 0 - - 1 LOVD
-?/. - c.130A>G r.(?) p.(Met44Val) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.168C>G r.(?) p.(Tyr56*) Parent #1 - pathogenic g.208988920G>C g.208124196G>C - - CRYGD_000011 - PubMed: Santana 2009 - - Germline - - - 0 - DNA SEQ - - CTRCT - - affected father, dauther and son - - Brazil - - 0 - - 3 Johan den Dunnen
+/. 2 c.168C>G r.(?) p.(Tyr56*) Paternal (inferred) - pathogenic g.208988920G>C g.208124196G>C - - CRYGD_000011 - PubMed: Dudakova 2017 - - Germline yes - - 0 - DNA SEQ - WES CTRCT 28849415-FamPatI1/III3 PubMed: Dudakova 2017 3-generation family, 4 affected (2F, 2M), paternal grandmother and son III3, father (II4) not available F;M no Czech Republic - - 0 - - 4 Johan den Dunnen
+/. 2 c.168C>G r.(?) p.(Tyr56*) Paternal (inferred) - VUS g.208988920G>C g.208124196G>C - - CRYGD_000011 - PubMed: Dudakova 2017 - - Germline - - - 0 - DNA SEQ - - Healthy/Control 28849415-FamPatIII2 PubMed: Dudakova 2017 - F - Czech Republic - - 0 - - 1 Johan den Dunnen
-/. - c.168C>G r.(?) p.(Tyr56Ter) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.176G>A r.(?) p.(Arg59His) Parent #1 - 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 - - - 0 - DNA SEQ - - CTRCT - - 4-generation family, 5 affecteds - - Switzerland - - 0 - - 5 Johan den Dunnen
+/. 2 c.176G>A r.(?) p.(Arg59His) Parent #1 - 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 - - - 0 - DNA SEQ - - CTRCT - - 3-generation family, 2 affecteds - - Switzerland - - 0 - - 2 Johan den Dunnen
+/. 2 c.176G>A r.(?) p.(Arg59His) Parent #1 - 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 - - - 0 - DNA SEQ - - CTRCT - - 2-generation family, 2 affecteds - - Switzerland - - 0 - - 2 Johan den Dunnen
+/. 2 c.181G>T r.(?) p.(Gly61Cys) Parent #1 - 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 - - - 0 - DNA DHPLC, SEQ - - CTRCT - - 4-generation family, 11 affecteds - - China - - 0 - - 11 Johan den Dunnen
-?/. - c.188A>G r.(?) p.(Tyr63Cys) Unknown - likely benign g.208988900T>C g.208124176T>C - - CRYGD_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.229C>A c.229C>A p.Arg77Ser Unknown - pathogenic g.208988859G>T g.208124135G>T - - CRYGD_000016 - PubMed: Roshan 2010 - - Germline - 100 Alu1 0 - DNA SEQ - - CTRCT - PubMed: Roshan 2010 Anterior polar coronary ? - India India - 0 - - 1 Lars Hansen
-?/. - c.240C>T r.(?) p.(Arg80=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.252+7A>G r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. 2i c.252+30C>T r.(?) p.(=) Unknown - benign g.208988806G>A g.208124082G>A IVS2+30 (517T>C) - CRYGD_000017 - PubMed: Santhiya 2006 - - Germline - - - 0 - DNA SEQ - - CTRCT - - 4-generation family, 3 affected Fs, 1 male F - India - - 0 - - 4 Johan den Dunnen
-/. 2i c.252+83T>C r.(?) p.(=) Unknown - benign g.208988753A>G g.208124029A>G IVS2+83 (570C>T) - CRYGD_000018 - PubMed: Santhiya 2006 - - Germline - - - 0 - DNA SEQ - - CTRCT - - 4-generation family, 3 affected Fs, 1 male F - India - - 0 - - 4 Johan den Dunnen
-/. 3 c.285A>G r.(?) p.(=) Unknown - benign g.208986637T>C g.208121913T>C R95R - CRYGD_000006 - PubMed: Santana 2009 - rs2305430 Germline - - - 0 - DNA SEQ - - CTRCT - - affected father, dauther and son - - Brazil - - 0 - - 3 Johan den Dunnen
-/. 3 c.285A>G r.(?) p.(=) Unknown - benign g.208986637T>C g.208121913T>C R95R - CRYGD_000006 variant in family PubMed: Santana 2009 - rs2305430 Germline - - - 0 - DNA SEQ - - CTRCT - - - - - Brazil - - 0 - - 5 Johan den Dunnen
-/. 3 c.285A>G r.(?) p.(=) Unknown - benign g.208986637T>C g.208121913T>C R95R - CRYGD_000006 9/11 families tested PubMed: Santana 2009 - rs2305430 Germline - 09/11/15 - 0 - DNA SEQ - - CTRCT - - - - - Brazil - - 0 - - 9 Johan den Dunnen
-/. 3 c.285A>G r.(?) p.(=) Unknown - benign g.208986637T>C g.208121913T>C 285G>A (R95R) - CRYGD_000006 - PubMed: Santhiya 2004 - rs2305430 Germline - - - 0 - DNA SEQ - - CTRCT - - 3-generation family, 6 affecteds - - India - - 0 - - 1 Johan den Dunnen
-/. 3 c.285A>G r.(?) p.(=) Unknown - benign g.208986637T>C g.208121913T>C 285G>A (R95R) - CRYGD_000006 - PubMed: Santhiya 2004 - rs2305430 Germline - - - 0 - DNA SEQ - - CTRCT - - family, 3 affecteds - - India - - 0 - - 1 Johan den Dunnen
-/. 3 c.285A>G r.(?) p.(=) Unknown - benign g.208986637T>C g.208121913T>C 285G>A (R95R) - CRYGD_000006 - PubMed: Santhiya 2004 - rs2305430 Germline - - - 0 - DNA SEQ - - CTRCT - - family, 1 affected - - India - - 0 - - 1 Johan den Dunnen
-/. 3 c.285A>G r.(?) p.(=) Unknown - benign g.208986637T>C g.208121913T>C 285G>A (R95R) - CRYGD_000006 - PubMed: Santhiya 2004 - rs2305430 Germline - - - 0 - DNA SEQ - - CTRCT - - family, 2 affecteds - - India - - 0 - - 1 Johan den Dunnen
-/. 3 c.285A>G r.(?) p.(=) Unknown - benign g.208986637T>C g.208121913T>C 285G>A (R95R) - CRYGD_000006 - PubMed: Santhiya 2004 - rs2305430 Germline - - - 0 - DNA SEQ - - CTRCT - - family, 2 affecteds - - India - - 0 - - 1 Johan den Dunnen
-/. 3 c.285A>G r.(?) p.(Arg95=) Maternal (confirmed) - benign g.208986637T>C g.208121913T>C - - CRYGD_000006 - PubMed: Khan 2009 - rs2305430 Germline no - - 0 - DNA PCR, SEQ - - CCTRCT 19633732-Fam1PatII5 PubMed: Khan 2009 2-generation family, 5-affecteds (5M), PatII5 M no Saudi Arabia - >04y 0 - - 5 Jamie Zeegers
-/. - c.285A>G r.(?) p.(Arg95=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.320A>C r.(?) p.(Glu107Ala) Maternal (confirmed) - pathogenic g.208986602T>G g.208121878T>G - - CRYGD_000013 not in 340 control chromosomes; probable germline mosaicism mother PubMed: Messina-Baas 2006 - - Germline - - - 0 - DNA SEQ - - CTRCT - - affected brother and sister, parents not a carrier - - Mexico - - 0 - - 2 Johan den Dunnen
+/. 3 c.347del r.(?) p.(Phe116Serfs*31) Parent #1 - pathogenic g.208986576del g.208121852del 346delT (F116Sfsx29) - CRYGD_000021 - - - - Germline - - BsrBI+ 0 - DNA SEQ - - CTRCT - - - F no China - - 0 - - 1 Juhua Yang
?/. - c.376G>A r.(?) p.(Val126Met) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 3 c.401A>G r.(?) p.(Tyr134Cys) Both (homozygous) - likely pathogenic g.208986521T>C g.208121797T>C - - CRYGD_000026 variant heterozygous in 1 affected and 1 unaffected relative PubMed: de Figueiredo 2011 - - Germline - - - 0 - DNA PCR, SEQ-NG - - CCTRCT 21866214-FamPatIV7 PubMed: de Figueiredo 2011 4-generation family, 8 affecteds (3F, 5M)/30 unaffecteds, PatIV7 only homozygous case M - Brazil Brazilian - 0 - surgery 2 Jamie Zeegers
+?/. 3 c.401A>G r.(?) p.(Tyr134Cys) Parent #1 - likely pathogenic g.208986521T>C g.208121797T>C - - CRYGD_000026 - PubMed: de Figueiredo 2011 - - Germline - - - 0 - DNA PCR, SEQ-NG - - CCTRCT 21866214FamPatIII22 PubMed: de Figueiredo 2011 PatIII22 M - Brazil Brazilian >25y 0 - - 1 Jamie Zeegers
+/. 3 c.402C>A r.(?) p.(Tyr134*) Parent #1 - pathogenic g.208986520G>T g.208121796G>T 418C>A - CRYGD_000015 not in 100 control chromosomes PubMed: Hansen 2007, PubMed: 19182255 - - Germline - - - 0 - DNA SEQ - - CTRCT - - affected mother and daugther - - Denmark - - 0 - - 2 Johan den Dunnen
-?/. - c.408G>A r.(?) p.(Leu136=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.418C>T r.(?) p.(Arg140*) Parent #1 - pathogenic g.208986504G>A g.208121780G>A - - CRYGD_000010 - PubMed: Devi 2008 - - Germline - - - 0 - DNA SEQ - - CTRCT - - 3-generation family, 15 affecteds - - India - - 0 - - 5 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