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.

218 entries on 3 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     
?/. - c.-36437G>T r.(?) p.(=) Unknown - VUS g.209025634C>A - CRYGA(NM_014617.4):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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-18295T>G r.(?) p.(=) Unknown - VUS g.209007492A>C - CRYGB(NM_005210.3):c.398T>G (p.I133S) - CRYGB_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-5159_-5157del r.(?) p.(=) Unknown - likely pathogenic g.208994354_208994356del g.208129630_208129632del CRYGC(NM_020989.3):c.61_63delACT (p.T21del), CRYGC(NM_020989.4):c.61_63del (p.(Thr21del)) - CRYGB_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-5159_-5157del r.(?) p.(=) Unknown - likely pathogenic g.208994354_208994356del - CRYGC(NM_020989.3):c.61_63delACT (p.T21del), CRYGC(NM_020989.4):c.61_63del (p.(Thr21del)) - CRYGB_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-5159_-5157del r.(?) p.(=) Unknown - likely pathogenic g.208994354_208994356del - CRYGC(NM_020989.3):c.61_63delACT (p.T21del), CRYGC(NM_020989.4):c.61_63del (p.(Thr21del)) - CRYGB_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5125G>A r.(?) p.(=) Unknown - likely benign g.208994322C>T - CRYGC(NM_020989.4):c.95G>A (p.(Arg32His)) - CRYGB_000037 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5083A>G r.(?) p.(=) Unknown - VUS g.208994280T>C - CRYGC(NM_020989.4):c.137A>G (p.Y46C) - CRYGB_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-5066_-5057del r.(?) p.(=) Unknown - pathogenic g.208994256_208994265del g.208129532_208129541del - - CRYGC_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5056A>G r.(?) p.(=) Unknown - likely benign g.208994253T>C g.208129529T>C CRYGC(NM_020989.4):c.164A>G (p.(Gln55Arg)) - CRYGB_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - 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.-5042C>T r.(?) p.(=) Unknown - VUS g.208994239G>A - CRYGC(NM_020989.4):c.178C>T (p.R60*) - CRYGB_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-5042C>T r.(?) p.(=) Unknown - pathogenic g.208994239G>A - CRYGC(NM_020989.4):c.178C>T (p.R60*) - CRYGB_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5000G>A r.(?) p.(=) Unknown - VUS g.208994197C>T - CRYGC(NM_020989.3):c.220G>A (p.(Asp74Asn)) - CRYGB_000034 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3921A>T r.(?) p.(=) Unknown - likely benign g.208993118T>A - CRYGC(NM_020989.3):c.334A>T (p.(Ile112Phe)) - CRYGB_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-3870G>T r.(?) p.(=) Unknown - likely pathogenic g.208993067C>A - CRYGC(NM_020989.4):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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3758C>G r.(?) p.(=) Unknown - VUS g.208992955G>C g.208128231G>C - - CRYGC_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. _1 c.? r.? p.? Unknown - benign g.? - promoter -16_37del - SNRNP200_000007 not in 340 control chromosomes PubMed: Cao 2018 - - Germline - 1/34 chromosomes cases CTRCT - - - DNA SEQ - - CTRCT CC00805 PubMed: Cao 2018 - - - Denmark - - - - - 1 Johan den Dunnen
-?/. - c.9+10G>C r.(=) p.(=) Unknown - likely benign g.208989179C>G - CRYGD(NM_006891.4):c.9+10G>C - CRYGB_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - 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 - - - - - DNA SEQ-NG - gene panel glaucoma G598 PubMed: Huang 2015 family F - China - - - - - 1 LOVD
?/. 2 c.29G>T r.(?) p.(Arg10Leu) Unknown - VUS g.208989059C>A g.208124335C>A - - CRYGD_000051 - PubMed: Liu 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam31Pat83 PubMed: Liu 2023 - F - China - - - - - 1 Johan den Dunnen
+/. 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 - - - - - DNA SEQ - - CTRCT - - 3-generation family, 8 affecteds - - China - - - - - 8 Johan den Dunnen
+/. - c.43C>A r.(?) p.(Arg15Ser) Maternal (confirmed) - pathogenic (dominant) g.208989045G>T g.208124321G>T - - CRYGD_000012 - PubMed: Zhai 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam26 PubMed: Zhai 2017 3-generation family, 3 affected (3F) F - China - - - - - 3 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- - - DNA SSCA, SEQ - - CTRCT - - 4-generation family, 11 affecteds - - United States - - - - - 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 - - - - - DNA DHPLC, SEQ - - CTRCT - - 6-generation family, 25 affecteds - - China - - - - - 25 Johan den Dunnen
+/. 2 c.43C>T r.(?) p.(Arg15Cys) Parent #1 - pathogenic (dominant) g.208989045G>A g.208124321G>A - - CRYGD_000001 - PubMed: Ma 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CTRCT Fam2 PubMed: Ma 2018 - - - China - - - - - 1 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 PubMed: Plotnikova 2007 - rs2242074 Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Plotnikova 2007 - - - Mongolia Asian, central; white - - - - 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 - - - DNA SEQ - - CTRCT - - - - - Brazil - - - - - 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 - - - - - DNA SEQ - - CTRCT - - family, 1 affected - - India - - - - - 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 - - - - - DNA SEQ - - CTRCT - - affected father, dauther and son - - Brazil - - - - - 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 - - - - - DNA SEQ - - CTRCT - - - - - Brazil - - - - - 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 - - - - - DNA SEQ - - CTRCT - - 3-generation family, 6 affecteds - - India - - - - - 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 - - - - - DNA SEQ - - CTRCT - - family, 3 affecteds - - India - - - - - 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 - - - - - DNA SEQ - - CTRCT - - family, 2 affecteds - - India - - - - - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.51T>C r.(?) p.(Tyr17=) Both (homozygous) - likely benign g.208989037A>G g.208124313A>G - - CRYGD_000007 - PubMed: Li 2019 - rs2242074 Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam5PatIV12 PubMed: Li 2019 6-generation family, 20 affected (9F, 11M) M - China - - - - - 20 Johan den Dunnen
-/. - c.51T>C r.(=) p.(Tyr17=) Unknown - benign g.208989037A>G g.208124313A>G T51C - CRYGD_000007 - PubMed: Plotnikova 2007 - - Germline no - - - - DNA SEQ - CRYGA-CRYGD genes CTRCT family PubMed: Plotnikova 2007 7-generation family, 78 affected (41F, 37M) F;M - Russia Asia-C - - - - 41 Johan den Dunnen
+?/. - c.51T>G r.(?) p.(Tyr17Ter) Parent #1 - VUS g.208989037A>C g.208124313A>C - - CRYGD_000046 hypotesized nonsense mediated mRNA decay preventing protein production PubMed: Reis 2013 - - Germline no - - - - DNA SEQ, SEQ-NG - WES CTRCT Pat23 PubMed: Reis 2013 family, 3 affected - - United States - - - - - 1 Johan den Dunnen
-?/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 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 - - - - - DNA SEQ - - CTRCT - - affected father and daugther - - India - - - - - 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 - - - - - DNA SEQ - - CTRCT - - 5-generation family, 19 affecteds - - Morocco - - - - - 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 - - - - - DNA SEQ - - CTRCT - - 4-generation family, 8 affecteds - - United States white - - - - 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) - - - - - - - - - - - - - - - - - - - - - - -
+/. 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 - - - - - DNA SEQ - - CTRCT - - 4-generation family, 7 affecteds - - China - - - - - 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 - - - - - DNA SSCA, SEQ - - CTRCT - - 5-generation family, 21 affecteds - - United States - - - - - 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 - - - - DNA PCR, SEQ - - CCTRCT 19633732-Fam1PatII5 PubMed: Khan 2009 2-generation family, 5-affecteds (5M), PatII5 M no Saudi Arabia - >04y - - - 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 - - - - DNA PCR - - CCTRCT 19633732-Fam1PatII4 PubMed: Khan 2009 PatII4 M no Saudi Arabia - >06y - - - 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 - - - - DNA PCR - - CCTRCT 19633732-Fam1PatII1 PubMed: Khan 2009 PatII1 M no Saudi Arabia - - - - 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) - - - - - DNA PCR - - CCTRCT 19633732-Fam2PatII1 PubMed: Khan 2009 2-generation family, 1 affected F yes Saudi Arabia - >07y - - - 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 ? - - - - DNA SEQ-NG blood - CTRCT4 191 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.70C>A r.(?) p.(Pro24Thr) Paternal (confirmed) - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Zhai 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam22 PubMed: Zhai 2017 3-generation family, 2 affected (F, M) F - China - - - - - 2 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Unknown - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Jackson 2020 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam26301 PubMed: Jackson 2020 - - - - Africa;black - - - - 1 Johan den Dunnen
+?/. - c.70C>A r.(?) p.(Pro24Thr) Parent #1 ACMG likely pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 ACMG PM1, PM2, PP1, PP2, PP5 PubMed: Zhuang 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 18-gene panel CTRCT CAT-46 PubMed: Zhuang 2019 family - - China - - - - - 1 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Paternal (confirmed) - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Li 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - 80 gene panel CTRCT Fam5PatIII13 PubMed: Li 2018 4-generation family, 14 affected (6F, 8M) M - China - - - - - 14 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Paternal (confirmed) - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Fan 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam2 PubMed: Fan 2020 2-generation family, affected father/sib - - China - - - - - 2 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Maternal (confirmed) - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Fan 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam5 PubMed: Fan 2020 2-generation family, affected mother/sib - - China - - - - - 2 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Maternal (confirmed) - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Ma 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam31PatIII1 PubMed: Ma 2016 3-generation family, affected mother/son/grandmother M - Australia - - - - - 3 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Paternal (confirmed) - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Taylan Sekeroglu 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CTRCT Fam3PatIII3 PubMed: Taylan Sekeroglu 2020 3-generation family, affected father/daughter F - Turkey - - - - - 2 Johan den Dunnen
+?/. - c.70C>A r.(?) p.(Pro24Thr) Parent #1 - likely pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 ACMG PS3, PS4mod, PM2 PubMed: Kessel 2021 VCV000016940.3 - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT CC0000659 PubMed: Kessel 2021 patient - - Denmark - - - - - 1 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Parent #1 - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Wang 2023 - - Germline - - - - - DNA SEQ - - CTRCT FamCC02 PubMed: Wang 2023 4-generation family, 8 affected (4F, 4M) F;M - China - - - - - 8 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Parent #1 - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Wang 2023 - - Germline - - - - - DNA SEQ - - CTRCT FamCC07 PubMed: Wang 2023 4-generation family, 7 affected (2F, 5M) F;M - China - - - - - 7 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Parent #1 - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Wang 2023 - - Germline - - - - - DNA SEQ - - CTRCT FamCC21 PubMed: Wang 2023 4-generation family, 10 affected (4F, 6M) F;M - China - - - - - 10 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Parent #1 - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Wang 2023 - - Germline - - - - - DNA SEQ - - CTRCT FamCC47 PubMed: Wang 2023 3-generation family, 6 affected (4F, 2M) F;M - China - - - - - 6 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Parent #1 - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Wang 2023 - - Germline - - - - - DNA SEQ - - CTRCT FamCC165 PubMed: Wang 2023 3-generation family, 6 affected (3F, 3M) F;M - China - - - - - 6 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Parent #1 - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Wang 2023 - - Germline - - - - - DNA SEQ - - CTRCT FamCC198 PubMed: Wang 2023 4-generation family, 6 affected (4F, 2M) F;M - China - - - - - 6 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Parent #1 - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Wang 2023 - - Germline - - - - - DNA SEQ - - CTRCT FamCC248 PubMed: Wang 2023 4-generation family, 5 affected (2F, 3M) F;M - China - - - - - 5 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Parent #1 - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Wang 2023 - - Germline - - - - - DNA SEQ - - CTRCT FamCC281 PubMed: Wang 2023 4-generation family, 3 affected (2F, M) F;M - China - - - - - 3 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Parent #1 - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Wang 2023 - - Germline - - - - - DNA SEQ - - CTRCT FamCC345 PubMed: Wang 2023 4-generation family, 4 affected (F, 3M) F;M - China - - - - - 4 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Parent #1 - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Wang 2023 - - Germline - - - - - DNA SEQ - - CTRCT FamCC382 PubMed: Wang 2023 4-generation family, 5 affected (3F, 2M) F;M - China - - - - - 5 Johan den Dunnen
+/. 2 c.70C>A r.(?) p.(Pro24Thr) Paternal (confirmed) - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Liu 2023 rs28931605 rs28931605 Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam56Pat152 PubMed: Liu 2023 4-generation family, 6 affected (2F, 4M) M - China - - - - - 6 Johan den Dunnen
+/. 2 c.70C>A r.(?) p.(Pro24Thr) Maternal (confirmed) - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Liu 2023 rs28931605 rs28931605 Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam56Pat153 PubMed: Liu 2023 relative M - China - - - - - 1 Johan den Dunnen
+/. 2 c.70C>A r.(?) p.(Pro24Thr) Unknown - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Liu 2023 rs28931605 rs28931605 Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam56Pat155 PubMed: Liu 2023 relative F - China - - - - - 1 Johan den Dunnen
+/. 2 c.70C>A r.(?) p.(Pro24Thr) Unknown - pathogenic g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Liu 2023 rs28931605 rs28931605 Germline - - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam77Pat211 PubMed: Liu 2023 - M - China - - - - - 1 Johan den Dunnen
+/. 2 c.70C>A r.(?) p.(Pro24Thr) Maternal (confirmed) - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Liu 2023 rs28931605 rs28931605 Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam89Pat246 PubMed: Liu 2023 2-generation family, affected mother/son M - China - - - - - 2 Johan den Dunnen
+/. 2 c.70C>A r.(?) p.(Pro24Thr) Unknown - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Liu 2023 rs28931605 rs28931605 Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam89Pat247 PubMed: Liu 2023 mother F - China - - - - - 1 Johan den Dunnen
+/. 2 c.70C>A r.(?) p.(Pro24Thr) Paternal (confirmed) - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Liu 2023 rs28931605 rs28931605 Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam108Pat292 PubMed: Liu 2023 2-generation family, affected father/son M - China - - - - - 2 Johan den Dunnen
+/. 2 c.70C>A r.(?) p.(Pro24Thr) Unknown - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Liu 2023 rs28931605 rs28931605 Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam108Pat293 PubMed: Liu 2023 father M - China - - - - - 1 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Parent #1 - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Cai 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG - 134 gene panel CTRCT FamI PubMed: Cai 2021 4-generation family, 20 affected (8F, 12M) F;M no China - - - - - 20 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Parent #1 - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Cai 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG - 134 gene panel CTRCT FamII PubMed: Cai 2021 5-generation family, 15 affected (6F, 9M) F;M no China - - - - - 15 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Parent #1 - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 segregates with cataract (4/4 affected) PubMed: Li 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CTRCT family PubMed: Li 2020 3-generation family, 4 affected (2F, 2M) F;M no China - - - - - 4 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Parent #1 - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Ma 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CTRCT Fam3 PubMed: Ma 2018 - - - China - - - - - 1 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


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