Full data view for gene CRYGC

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.

138 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     
?/. - c.-31118G>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.-16100T>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.-16055G>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.-16053G>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.-16042T>C r.(?) p.(=) Unknown - benign g.209010558A>G g.208145834A>G - - CRYGB_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-16014G>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.-16003C>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.-15982G>A r.(?) p.(=) Unknown - likely benign g.209010498C>T g.208145774C>T - - CRYGB_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-13050C>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.-12976T>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.-12847G>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.1A>G r.(?) p.(Met1?) 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1i c.10-1G>A r.spl p.? Paternal (confirmed) - likely pathogenic g.208994408C>T g.208129684C>T 20899414C>T - CRYGC_000014 - - - - Germline yes - - - - DNA SEQ - - CTRCT - - - M no China Chinese - - - - 1 Zongfu Cao
+/. 1i c.10-1G>A r.spl p.? Parent #1 ACMG pathogenic (dominant) g.208994408C>T g.208129684C>T - - CRYGC_000014 ACMG PVS1, PM2, PP1, PP2, PP3 PubMed: Zhuang 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 18-gene panel CTRCT CAT-33 PubMed: Zhuang 2019 3-generation family, 5 affected (2F, 3M) F;M - China - - - - - 5 Johan den Dunnen
+/. 2 c.13A>C r.(?) p.(Thr5Pro) Parent #1 - pathogenic g.208994404T>G g.208129680T>G 225A>C - CRYGC_000001 not in 430 control chromosomes PubMed: Heon 1999, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CTRCT2;CCL - PubMed: Heon 1998 4-generation family, 18 affecteds - - Switzerland;Macedonia - - - - - 18 Johan den Dunnen
+/. 2 c.13A>C r.(?) p.(Thr5Pro) Parent #1 - pathogenic g.208994404T>G g.208129680T>G 225A>C - CRYGC_000001 not in 430 control chromosomes PubMed: Heon 1999, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CTRCT2;CCL - PubMed: Heon 1998 5-generation family, 4 affecteds - - Switzerland - - - - - 4 Johan den Dunnen
+/. 2 c.13A>C r.(?) p.(Thr5Pro) Parent #1 - pathogenic g.208994404T>G g.208129680T>G 225A>C - CRYGC_000001 not in 430 control chromosomes PubMed: Heon 1999, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CTRCT2;CCL - PubMed: Heon 1998 4-generation family, 3 affecteds - - Switzerland - - - - - 3 Johan den Dunnen
+/. 2 c.13A>C r.(?) p.Thr5Pro Unknown - NA g.208994404T>G g.208129680T>G - - CRYGC_000001 yeat-two-hybrid analysis decreased interaction CRYAA, CRYAB, CRYBB2, CRYGC (not with itself) PubMed: Fu 2003, OMIM:var0001 - - In vitro (cloned) - - - - - DNA SEQ leukocytes screen APC gene (index patient) FAP1 - - - M - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/. 2 c.13A>C r.(?) p.(Thr5Pro) Parent #1 - pathogenic g.208994404T>G g.208129680T>G 225A>C - CRYGC_000001 - - - rs104893618 Germline - - - - - DNA SEQ leukocytes test known APC variant (relative) FAP1 - - - M - Germany - - - yes (pedigree) - 1 Stefan Aretz
+?/. - c.13A>C r.(?) p.(Thr5Pro) Unknown - likely pathogenic (dominant) g.208994404T>G g.208129680T>G - - CRYGC_000001 - PubMed: Berry 2020 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WES CTRCT FamI PubMed: Berry 2020 patient - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. - c.17T>C r.(?) p.(Phe6Ser) Paternal (confirmed) - likely pathogenic (dominant) g.208994400A>G g.208129676A>G - - CRYGC_000042 - PubMed: Astiazaran 2018 - - Germline yes - - - - DNA SEQ-NG - gene panel CTRCT Fam4PatII2 PubMed: Astiazaran 2018 2-generation family, 4 affected (F, 3M) F - Mexico - - - - - 3 Johan den Dunnen
+?/. - c.17T>C r.(?) p.(Phe6Ser) Paternal (confirmed) - likely pathogenic (dominant) g.208994400A>G g.208129676A>G - - CRYGC_000042 - PubMed: Astiazaran 2018 - - Germline yes - - - - DNA SEQ-NG - gene panel CTRCT Fam4PatII3 PubMed: Astiazaran 2018 brother M - Mexico - - - - - 1 Johan den Dunnen
+?/. - c.17T>C r.(?) p.(Phe6Ser) Unknown - likely pathogenic (dominant) g.208994400A>G g.208129676A>G - - CRYGC_000042 - PubMed: Astiazaran 2018 - - Germline/De novo (untested) yes - - - - DNA SEQ-NG - gene panel CTRCT Fam10PatI2 PubMed: Astiazaran 2018 2-generation family, 6 affected (4F, 2M) F - Mexico - - - - - 6 Johan den Dunnen
+?/. - c.17T>C r.(?) p.(Phe6Ser) Maternal (confirmed) - likely pathogenic (dominant) g.208994400A>G g.208129676A>G - - CRYGC_000042 - PubMed: Astiazaran 2018 - - Germline yes - - - - DNA SEQ-NG - gene panel CTRCT Fam10PatII1 PubMed: Astiazaran 2018 daughter F - Mexico - - - - - 1 Johan den Dunnen
+?/. - c.17T>C r.(?) p.(Phe6Ser) Maternal (confirmed) - likely pathogenic (dominant) g.208994400A>G g.208129676A>G - - CRYGC_000042 - PubMed: Astiazaran 2018 - - Germline yes - - - - DNA SEQ-NG - gene panel CTRCT Fam10PatII3 PubMed: Astiazaran 2018 daughter F - Mexico - - - - - 1 Johan den Dunnen
+?/. - c.17T>C r.(?) p.(Phe6Ser) Maternal (confirmed) - likely pathogenic (dominant) g.208994400A>G g.208129676A>G - - CRYGC_000042 - PubMed: Astiazaran 2018 - - Germline yes - - - - DNA SEQ-NG - gene panel CTRCT Fam10PatII4 PubMed: Astiazaran 2018 daughter F - Mexico - - - - - 1 Johan den Dunnen
+?/. - c.17T>C r.(?) p.(Phe6Ser) Maternal (confirmed) - likely pathogenic (dominant) g.208994400A>G g.208129676A>G - - CRYGC_000042 - PubMed: Astiazaran 2018 - - Germline yes - - - - DNA SEQ-NG - gene panel CTRCT Fam10PatII6 PubMed: Astiazaran 2018 son M - Mexico - - - - - 1 Johan den Dunnen
-/. 2 c.33C>T r.(?) p.(=) Unknown - benign g.208994384G>A g.208129660G>A A11A - CRYGC_000004 - PubMed: Santhiya 2002 - - Germline - 01/17/15 - - - DNA SEQ - - CTRCT - - - - - India - - - - - 1 Johan den Dunnen
+?/. - c.61_63del r.(?) p.(Thr21del) 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.61_63del r.(?) p.(Thr21del) Parent #1 - likely pathogenic g.208994354_208994356del g.208129630_208129632del - - CRYGB_000017 no genotypes reported PubMed: Sergouniotis 2016 - - Germline - 1/181 individuals - - - DNA SEQ-NG - gene panel CTRCT - PubMed: Sergouniotis 2016 analysis 181 cases - - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.61_63del r.(?) p.(Thr21del) 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.61_63del r.(?) p.(Thr21del) 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.83C>T r.(?) p.(Pro28Leu) Paternal (confirmed) - likely pathogenic (dominant) g.208994334G>A g.208129610G>A - - CRYGC_000028 - PubMed: Jiao 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CTRCT Fam97006Pat7 PubMed: Jiao 2022 4-generation family, 5 affected (F, 4M) M - Ukraine - - - - - 1 Johan den Dunnen
-?/. - c.95G>A r.(?) p.(Arg32His) 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.110G>A r.(?) p.(Arg37Gln) Unknown - likely pathogenic g.208994307C>T g.208129583C>T - - CRYGC_000023 - PubMed: Huang 2015 - - Germline - - - - - DNA SEQ-NG - gene panel glaucoma G217 PubMed: Huang 2015 family F - China - - - - - 1 LOVD
+/. - c.110G>C r.(?) p.(Arg37Pro) Parent #1 - pathogenic (dominant) g.208994307C>G g.208129583C>G - - CRYGC_000030 - PubMed: Zhang 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CTRCT family PubMed: Zhang 2019 - - - China - - - - - 1 Johan den Dunnen
+/. 2 c.119_123dup r.(?) p.(Cys42Alafs*63) Parent #1 - pathogenic g.208994294_208994298dup g.208129570_208129574dup - - CRYGC_000002 mapped by linkage (LOD score 6.0) PubMed: Ren 2000, OMIM:var0002 - - Germline - - - - - DNA SEQ - - CTRCT - - 7-generation family, 30 affecteds - - United States - - - - - 30 Johan den Dunnen
+/. - c.119_123dup r.(?) p.(Cys42AlafsTer63) Parent #1 - pathogenic (dominant) g.208994294_208994298dup g.208129570_208129574dup 157_161dupGCGGC (p.(Gln55Valfs*50)) - CRYGC_000002 - PubMed: Reis 2013 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES CTRCT Pat9 PubMed: Reis 2013 family, 4 affected - - United States white - - - - 1 Johan den Dunnen
-/. - c.120C>T r.(?) p.(Ser40=) 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.124del r.(?) p.(Cys42Alafs*61) Parent #1 - pathogenic g.208994293del g.208129569del - - CRYGC_000013 - PubMed: Kondo 2013 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CCTRCT 23441109-FamBPatMC13 PubMed: Kondo 2013 2-generation family, 3 affecteds (F, 2M) F - Korea Korean - - - - 3 Jamie Zeegers
+/. 2 c.124del r.(?) p.(Cys42Alafs*61) Paternal (confirmed) - pathogenic g.208994293del g.208129569del - - CRYGC_000013 - PubMed: Kondo 2013 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CCTRCT 23441109-FamBPatMC14 PubMed: Kondo 2013 PatMC13 M - Korea Korean - - - - 1 Jamie Zeegers
+/. - c.130del r.(?) p.(Met44CysfsTer59) Parent #1 - pathogenic (dominant) g.208994287del g.208129563del 130delA - CRYGC_000033 - PubMed: Sun 2017 - - Germline yes - - - - DNA SEQ-NG - gene panel CTRCT FamD PubMed: Sun 2017 2-generation family, affectedfather/daughter/son F;M - China - - - - - 3 Johan den Dunnen
+?/. 2 c.134T>C r.(?) p.(Leu45Pro) Parent #1 - likely pathogenic g.208994283A>G g.208129559A>G - - CRYGC_000011 - PubMed: Gillespie 2014, Journal: Gillespie 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - - CCTRCT - PubMed: Gillespie 2014, Journal: Gillespie 2014 has affected sister, mother, maternal grandfather M no - - - - - - 4 Johan den Dunnen
+/. - c.134T>C - p.Leu45Pro Unknown - NA g.208994283A>G g.208129559A>G - - CRYGC_000011 functional analysis shows aggregate formation at physiological temperature, altered thermal unfolding, less thermal stability with increasing concentrations and a concentration-dependent rescue by αA-crystallin PubMed: Fu 2021 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.136T>G - p.Tyr46Asp Unknown - NA g.208994281A>C g.208129557A>C - - CRYGC_000031 functional analysis shows aggregate formation at physiological temperature, altered thermal unfolding, less thermal stability with increasing concentrations and a concentration-dependent rescue by αA-crystallin PubMed: Fu 2021 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.136T>G r.(?) p.(Tyr46Asp) Parent #1 - pathogenic (dominant) g.208994281A>C g.208129557A>C - - CRYGC_000031 - PubMed: Zhong 2017 - - Germline yes - - - - DNA SEQ-NG - gene panel CTRCT Fam10074 PubMed: Zhong 2017 3-generation family, 4 affected (2F, 2M) - - China - - - - - 4 Johan den Dunnen
?/. - c.137A>G r.(?) p.(Tyr46Cys) Unknown - VUS g.208994280T>C - CRYGC(NM_020989.4):c.137A>G (p.Y46C) - CRYGB_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.143G>A r.(?) p.(Arg48His) Unknown - VUS g.208994274C>T g.208129550C>T - - CRYGC_000004 - PubMed: Santhiya 2002 - - Germline - 03/17/15 HgaI - - DNA SEQ - - CTRCT - - - - - India - - - - - 3 Johan den Dunnen
?/. 2 c.143G>A r.(?) p.(Arg48His) Parent #1 - VUS g.208994274C>T g.208129550C>T - - CRYGC_000004 not in 240 control chromosomes ESHG2010 Gonzalez-Huerta P12.034 - - Germline - - HgaI - - DNA SEQ - - CTRCT - - family, 3 affecteds - - Mexico - - - - - 3 Johan den Dunnen
+/. - c.143G>A r.(?) p.(Arg48His) Unknown - pathogenic (dominant) g.208994274C>T g.208129550C>T - - CRYGC_000004 - PubMed: Sun 2017 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - gene panel CTRCT Pat2 PubMed: Sun 2017 - - - China - - - - - 1 Johan den Dunnen
-?/. - c.152A>G r.(?) p.(Tyr51Cys) 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.154_163del r.(?) p.(Gln52AsnfsTer48) Unknown - pathogenic g.208994256_208994265del g.208129532_208129541del - - CRYGC_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.164A>G r.(?) p.(Gln55Arg) 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.164A>G r.(?) p.(Gln55Arg) Parent #1 ACMG VUS g.208994253T>C - - - CRYGB_000016 - PubMed: Karahan 2021 - rs144295934 Germline - - - - - DNA SEQ - CRY-gene panel CTRCT Pat2 PubMed: Karahan 2021 - - - Turkey - - - - - 1 Johan den Dunnen
+?/. - c.173T>C r.(?) p.(Leu58Pro) Unknown - likely pathogenic g.208994244A>G g.208129520A>G - - CRYGC_000041 - PubMed: Moon 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease Pat14 PubMed: Moon 2021 - - - Korea - - - - - 1 Johan den Dunnen
-?/. - c.176G>A r.(?) p.(Arg59Gln) 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.178C>T r.(?) p.(Arg60*) Unknown - VUS g.208994239G>A - CRYGC(NM_020989.4):c.178C>T (p.R60*) - CRYGB_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.178C>T r.(?) p.(Arg60*) Unknown - pathogenic g.208994239G>A - CRYGC(NM_020989.4):c.178C>T (p.R60*) - CRYGB_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.179del r.(?) p.(Arg60GlnfsTer43) Paternal (confirmed) - pathogenic (dominant) g.208994238del g.208129514del 179delG - CRYGC_000040 - PubMed: Berry 2020 - - Germline yes - - - - DNA SEQ-NG - WES CTRCT FamDPatII2 PubMed: Berry 2020 3-generation family, 3 (2F, M) affected F - United Kingdom (Great Britain) - - - - - 3 Johan den Dunnen
+/. - c.192del r.(?) p.(Asp65ThrfsTer38) Maternal (confirmed) - pathogenic (dominant) g.208994228del g.208129504del - - CRYGC_000047 - PubMed: Fan 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam7 PubMed: Fan 2020 2-generation family, affected mother/elder brother - - China - - - - - 3 Johan den Dunnen
+/. 2 c.192del r.(?) p.(Asp65ThrfsTer38) Maternal (confirmed) - pathogenic (dominant) g.208994228del g.208129504del - - CRYGC_000047 - PubMed: Liu 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam72Pat198 PubMed: Liu 2023 2-generation family, affected mother/2 sons M - China - - - - - 3 Johan den Dunnen
+/. 2 c.192del r.(?) p.(Asp65ThrfsTer38) Unknown - pathogenic (dominant) g.208994228del g.208129504del - - CRYGC_000047 - PubMed: Liu 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam72Pat199 PubMed: Liu 2023 mother F - China - - - - - 1 Johan den Dunnen
+/. 2 c.192del r.(?) p.(Asp65ThrfsTer38) Maternal (confirmed) - pathogenic (dominant) g.208994228del g.208129504del - - CRYGC_000047 - PubMed: Liu 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam72Pat200 PubMed: Liu 2023 son M - China - - - - - 1 Johan den Dunnen
+/. - c.193del r.(?) p.(Asp65ThrfsTer38) Parent #1 - pathogenic (dominant) g.208994224del g.208129500del 193delG - CRYGC_000039 - PubMed: Zhong 2017 - - Germline yes - - - - DNA SEQ-NG - gene panel CTRCT Fam10114 PubMed: Zhong 2017 2-generation family, 2 affected (2M) M - China - - - - - 2 Johan den Dunnen
?/. - c.220G>A r.(?) p.(Asp74Asn) Unknown - VUS g.208994197C>T - CRYGC(NM_020989.3):c.220G>A (p.(Asp74Asn)) - CRYGB_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.230G>A r.(?) p.(Arg77His) Unknown - VUS g.208994187C>T - - - CRYGB_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.233C>T r.(?) p.(Ser78Phe) Maternal (confirmed) - likely pathogenic (dominant) g.208994184G>A g.208129460G>A - - CRYGC_000038 - PubMed: Li 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - 80 gene panel CTRCT Fam4PatIII1 PubMed: Li 2018 3-generation family, affected mother/son M - China - - - - - 2 Johan den Dunnen
+/. - c.280G>A r.(?) p.(Glu94Lys) Parent #1 - pathogenic g.208993172C>T g.208128448C>T - - CRYGC_000027 - PubMed: Li 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Pat37 PubMed: Li 2016 - - - China - - - - - 1 Johan den Dunnen
-?/. - c.317G>A r.(?) p.(Ser106Asn) 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.320_321del r.(?) p.(Glu107GlyfsTer56) Unknown - pathogenic (dominant) g.208993131_208993132del g.208128407_208128408del - - CRYGC_000050 - PubMed: Reichsteiner 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES CTRCT Fam5PatII1 PubMed: Reichsteiner 2021 2-generation family, 1 affected, unaffected non-carrier parents M - Switzerland - - - - - 1 Johan den Dunnen
+/. 3 c.327C>A r.(?) p.(Cys109*) Parent #1 - pathogenic g.208993125G>T g.208128401G>T - - CRYGC_000005 not in 100 control chromosomes PubMed: Yao 2008 - - Germline - - - - - DNA SEQ - - CTRCT - - 3-generation family, 7 affecteds - - China - - - - - 7 Johan den Dunnen
+/. - c.328_329delinsT r.(?) p.(Pro110SerfsTer37) Paternal (confirmed) - pathogenic (dominant) g.208993123_208993124delinsA g.208128399_208128400delinsA - - CRYGC_000046 - PubMed: Ma 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam22PatII3 PubMed: Ma 2016 3-generation family, 5 affeted (3F, 2M) F - Australia - - - - - 5 Johan den Dunnen
-?/. - c.334A>T r.(?) p.(Ile112Phe) 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.337C>T r.(?) p.(Gln113Ter) Parent #1 - pathogenic g.208993115G>A g.208128391G>A - - CRYGC_000026 - PubMed: Li 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Pat57 PubMed: Li 2016 - - - China - - - - - 1 Johan den Dunnen
-/. 3 c.357C>T r.(?) p.(=) Unknown - 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 - - DNA SEQ - - CTRCT - - - - - Brazil - - - - - 5 Johan den Dunnen
+/. - c.382G>T r.(?) p.(Glu128*) Paternal (confirmed) - pathogenic (dominant) g.208993070C>A g.208128346C>A - - CRYGC_000043 - PubMed: Kandaswamy 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES CTRCT FamDKEC1PatV29 PubMed: Kandaswamy 2020 6-generation family, affected 28 (15F, 13M) M no India - - - - - 28 Johan den Dunnen
+/. 3 c.385G>T r.(?) p.(Gly129Cys) Maternal (confirmed) - pathogenic g.208993067C>A g.208128343C>A - - CRYGC_000008 - PubMed: Li 2012 - - Germline yes - - - - DNA SEQ - - CTRCT FamPatIII1 PubMed: Li 2012 3-generation family, 3 affected (grandfather, mother, daughter) F - China China - - - - 3 Lu Cailing
+?/. - c.385G>T r.(?) p.(Gly129Cys) 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.386_389dup r.(?) p.(Cys130Trpfs*35) Maternal (confirmed) - pathogenic (dominant) g.208993064_208993067dup g.208128340_208128343dup 389_390insGCTG - CRYGC_000048 variant de novo in mother PubMed: Zhou 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES CTRCT family PubMed: Zhou 2021 3-generation family, affected mother/son/daughter F;M - China - - - - - 3 Johan den Dunnen
+/. - c.391T>C r.(?) p.(Trp131Arg) Unknown ACMG pathogenic (dominant) g.208993061A>G NC_000002.12:g.208128337A>G - - CRYGC_000029 ACMG PP3, PM1, PM2, PS2 PubMed: Delas 2023 - - De novo - - - - - DNA SEQ-NG - WES CTRCT patient PubMed: Delas 2023 2-generation family, 1 affected, unaffected non-carrier parents M - Switzerland - - - - - 1 Johan den Dunnen
+/. - c.394del r.(?) p.(Val132SerfsTer15) Unknown ACMG pathogenic (dominant) g.208993060del g.208128336del 394delG - CRYGC_000049 ACMG PVS1, PS2, PM2 PubMed: Peng 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES CTRCT patient PubMed: Peng 2022 2-generation family, 1 affected, unaffected non-carrier parents M - China - - - - - 1 Johan den Dunnen
+/. 3 c.402C>G r.(?) p.(Tyr134*) Parent #1 - pathogenic g.208993050G>C g.208128326G>C - - CRYGC_000010 - PubMed: Gillespie 2014, Journal: Gillespie 2014 - - De novo - - - - - DNA SEQ, SEQ-NG - - CCTRCT - PubMed: Gillespie 2014, Journal: Gillespie 2014 3-generation family, 1 affected, no family hostory F yes - - - - - - 1 Johan den Dunnen
-?/. - c.402C>T r.(?) p.(Tyr134=) 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.403G>T r.(?) p.(Glu135Ter) Parent #1 - pathogenic (dominant) g.208993049C>A g.208128325C>A - - CRYGC_000045 - PubMed: Patel 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CTRCT 11DG0994 PubMed: Patel 2017 family - - - - - - - - 7 Johan den Dunnen
+/. - c.417C>A r.(?) p.(Tyr139Ter) Parent #1 - pathogenic (dominant) g.208993035G>T g.208128311G>T - - CRYGC_000037 - PubMed: Zhong 2017 - - Germline yes - - - - DNA SEQ-NG - gene panel CTRCT Fam10185 PubMed: Zhong 2017 3-generation family, 3 affected (F, 2M) - - China - - - - - 3 Johan den Dunnen
+/. - c.417C>G r.(?) p.(Tyr139Ter) Parent #1 - pathogenic (dominant) g.208993035G>C g.208128311G>C - - CRYGC_000044 - PubMed: Reis 2013 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES CTRCT Pat18 PubMed: Reis 2013 family, 2 affected - - United States white - - - - 1 Johan den Dunnen
+/. - c.423del r.(?) p.(Arg142GlyfsTer5) Parent #1 - pathogenic (dominant) g.208993033del g.208128309del 423delG - CRYGC_000035 - PubMed: Zhong 2017 - - Germline yes - - - - DNA SEQ-NG - gene panel CTRCT Fam10047 PubMed: Zhong 2017 3-generation family, 3 affected (F, 2M) - - China - - - - - 3 Johan den Dunnen
+/. - c.423dup r.(?) p.(Arg142AlafsTer22) Parent #1 - pathogenic (dominant) g.208993033dup g.208128309dup 423dupG - CRYGC_000036 - PubMed: Zhong 2017 - - Germline yes - - - - DNA SEQ-NG - gene panel CTRCT Fam10103 PubMed: Zhong 2017 3-generation family, 4 affected (2F, 2M) - - China - - - - - 4 Johan den Dunnen
?/. - c.425G>A r.(?) p.(Arg142Gln) Unknown - VUS g.208993027C>T - CRYGC(NM_020989.3):c.425G>A (p.R142Q) - CRYGB_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.425_432dup r.(?) p.(Leu145GlyfsTer5) Unknown - likely pathogenic (dominant) g.208993021_208993028dup g.208128297_208128304dup - - CRYGC_000025 - PubMed: Fernandez-Alcalde 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam07 PubMed: Fernandez-Alcalde 2021 - - - Spain - - - - - 1 Johan den Dunnen
+/. 3 c.432C>A r.(?) p.(Tyr144Ter) Unknown - pathogenic (dominant) g.208993020G>T g.208128296G>T - - CRYGC_000051 - PubMed: Liu 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam20Pat55 PubMed: Liu 2023 2-generation family, 1 affected, unaffected non-carrier parents F - China - - - - - 1 Johan den Dunnen
+/. - c.432C>G r.(?) p.(Tyr144Ter) Parent #1 - pathogenic (dominant) g.208993020G>C g.208128296G>C - - CRYGC_000032 - PubMed: Zhong 2017 - - Germline yes - - - - DNA SEQ-NG - gene panel CTRCT Fam10138 PubMed: Zhong 2017 3-generation family, 3 affected (F, 2M) - - China - - - - - 3 Johan den Dunnen
+/. - c.432C>G r.(?) p.(Tyr144Ter) Parent #1 - pathogenic (dominant) g.208993020G>C g.208128296G>C - - CRYGC_000032 - PubMed: Sun 2017 - - Germline yes - - - - DNA SEQ-NG - gene panel CTRCT FamC PubMed: Sun 2017 2-generation family, affected father/son M - China - - - - - 2 Johan den Dunnen
+/. - c.432C>G r.(?) p.(Tyr144*) Maternal (confirmed) - pathogenic (dominant) g.208993020G>C g.208128296G>C - - CRYGC_000032 - PubMed: Taylan Sekeroglu 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES CTRCT Fam2PatIII3 PubMed: Taylan Sekeroglu 2020 3-generation family, 14 affected (8F, 6M) F - Turkey - - - - - 14 Johan den Dunnen
+?/. - c.438del r.(?) p.(Arg147GlyfsTer32) Maternal (confirmed) - likely pathogenic (dominant) g.208993014del g.208128290del 438delG - CRYGC_000024 - PubMed: Fernandez-Alcalde 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam08 PubMed: Fernandez-Alcalde 2021 - - - Spain - - - - - 1 Johan den Dunnen
+/. 3 c.470G>A r.(?) p.(Trp157*) Parent #1 - pathogenic g.208992982C>T g.208128258C>T - - CRYGC_000006 not in 200 control chromosomes PubMed: Zhang 2009 - - Germline - - - - - DNA SEQ - - CTRCT - - 4-generation family, 7 affecteds - - China - - - - - 7 Johan den Dunnen
+/. - c.470G>A r.(?) p.(Trp157Ter) 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.470G>A r.(?) p.(Trp157*) Unknown ACMG pathogenic g.208992982C>T g.208128258C>T - - CRYGC_000006 ACMG grading: PVS1,PM2,PP5; age at diagnosis: 56y; Svenson et al. 2001. Am J Hum Genet 68: 1077; Nantti et al. 2012. Neurosci Lett. 2: 42 - - rs398122392 Germline - - - - - DNA SEQ-NG-S - - ? - - - F - Germany - - - - - 1 Andreas Laner
+?/. - c.470G>A r.(?) p.(Trp157Ter) Parent #1 - likely pathogenic (dominant) g.208992982C>T g.208128258C>T - - CRYGC_000006 ACMG PVS1strong,PM2, PS4sup PubMed: Kessel 2021 VCV000066074.1 - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT CCMM0102 PubMed: Kessel 2021 patient - - Denmark - - - - - 1 Johan den Dunnen
+/. 3 c.471G>A r.(?) p.(Trp157*) Paternal (confirmed) - pathogenic g.208992981C>T g.208128257C>T - - CRYGC_000012 - PubMed: Guo 2012 - - Germline yes - - - - DNA PCR - - CCTRCT 22876111-FamPatII7 PubMed: Guo 2012 4-generation family, 6-affecteds (4F,2M), PatII7 M - China Chinese >08y - - - 6 Jamie Zeegers
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