Full data view for gene CRYAA

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000394.2 transcript reference sequence.

147 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     
-/. 1 c.6C>T r.(?) p.(=) Parent #1 - benign g.44589215C>T g.43169105C>T - - CRYAA_000010 - PubMed: Litt 1998 - rs872331 Germline - - - - - DNA SEQ - - CTRCT - - 4-generation family, 13 afffecteds - - United States - - - - - 13 Lars Hansen
-/. 1 c.6C>T r.(?) p.(=) Parent #1 - benign g.44589215C>T g.43169105C>T - - CRYAA_000010 - PubMed: Beby 2007 - rs872331 Germline - - - - - DNA SEQ - - CTRCT - - 4-generation family, 12 affecteds - - France - - - - - 12 Lars Hansen
-/. 1 c.6C>T r.(?) p.(=) Unknown - benign g.44589215C>T g.43169105C>T D2D - CRYAA_000010 10/11 families tested PubMed: Santana 2009 - rs872331 Germline - 10/11/15 - - - DNA SEQ - - CTRCT - - - - - Brazil - - - - - 10 Johan den Dunnen
?/. 1 c.6C>T r.(?) p.(=) Parent #1 - VUS g.44589215C>T g.43169105C>T 6G>A - CRYAA_000010 144 controls PubMed: Bhagyalaxmi 2010 - rs872331 Germline - 24/144 - - - DNA SSCA, SEQ - - Healthy/Control - - - - - India - - - - - 24 Johan den Dunnen
?/. 1 c.6C>T r.(?) p.(=) Paternal (inferred) - VUS g.44589215C>T g.43169105C>T 6G>A - CRYAA_000010 144 controls PubMed: Bhagyalaxmi 2010 - rs872331 Germline - 3/144 - - - DNA SSCA, SEQ - - Healthy/Control - - - - - India - - - - - 6 Johan den Dunnen
?/. 1 c.6C>T r.(?) p.(=) Parent #1 - VUS g.44589215C>T g.43169105C>T 6G>A - CRYAA_000010 910 cataract cases PubMed: Bhagyalaxmi 2010 - rs872331 Germline - 121/455 - - - DNA SSCA, SEQ - - CTRCT - - - - - India - - - - - 121 Johan den Dunnen
?/. 1 c.6C>T r.(?) p.(=) Paternal (inferred) - VUS g.44589215C>T g.43169105C>T 6G>A - CRYAA_000010 910 cataract cases PubMed: Bhagyalaxmi 2010 - rs872331 Germline - 28/455 - - - DNA SSCA, SEQ - - CTRCT - - - - - India - - - - - 56 Johan den Dunnen
-/. 1 c.6C>T r.(?) p.(=) Unknown - benign g.44589215C>T g.43169105C>T D2D - CRYAA_000010 - PubMed: Santana 2009 - rs872331 Germline - - - - - DNA SEQ - - CTRCT - - 2-generation family, 3 affecteds - - Brazil - - - - - 3 Johan den Dunnen
-/. 1 c.6C>T r.(?) p.(=) Unknown - benign g.44589215C>T g.43169105C>T D2D - CRYAA_000010 - PubMed: Santana 2009 - rs872331 Germline - - - - - DNA SEQ - - CTRCT - - affected father, dauther and son - - Brazil - - - - - 3 Johan den Dunnen
-/. 1 c.6C>T r.(?) p.(=) Unknown - benign g.44589215C>T g.43169105C>T D2D - CRYAA_000010 variant in family PubMed: Santana 2009 - rs872331 Germline - - - - - DNA SEQ - - CTRCT - - - - - Brazil - - - - - 5 Johan den Dunnen
-/. 1 c.6C>T r.(?) p.(=) Unknown - benign g.44589215C>T g.43169105C>T - - CRYAA_000010 in controls and cataract patients PubMed: Pang 2002 - rs872331 Germline - - - - - DNA SEQ - - Healthy/Control - - - - - China - - - - - 1 Johan den Dunnen
-/. 1 c.6C>T r.(?) p.(=) Parent #2 - benign g.44589215C>T g.43169105C>T - - CRYAA_000010 - PubMed: Beby 2007 - rs872331 Germline - - - - - DNA SEQ - - CTRCT - - 4-generation family, 12 affecteds - - France - - - - - 12 Lars Hansen
-/. 1 c.6C>T r.(?) p.(=) Paternal (confirmed) - benign g.44589215C>T g.43169105C>T 6T>C - CRYAA_000010 - PubMed: Graw 2006 - rs872331 Germline - - - - - DNA SEQ - - CTRCT - - - - - Germany - - - - - 1 Johan den Dunnen
?/. 1 c.6C>T r.(?) p.(=) Maternal (inferred) - VUS g.44589215C>T g.43169105C>T 6G>A - CRYAA_000010 144 controls PubMed: Bhagyalaxmi 2010 - rs872331 Germline - 3/144 - - - DNA SSCA, SEQ - - Healthy/Control - - - - - India - - - - - 6 Johan den Dunnen
?/. 1 c.6C>T r.(?) p.(=) Maternal (inferred) - VUS g.44589215C>T g.43169105C>T 6G>A - CRYAA_000010 910 cataract cases PubMed: Bhagyalaxmi 2010 - rs872331 Germline - 28/455 - - - DNA SSCA, SEQ - - CTRCT - - - - - India - - - - - 56 Johan den Dunnen
-/. 1 c.6C>T r.(?) p.(=) Parent #2 - benign g.44589215C>T g.43169105C>T - - CRYAA_000010 not seggregating with disease; 14 heterozygotes in family PubMed: Richter 2008 - rs872331 Germline - - - - - DNA SEQ - - CTRCT - - 4-generation family, 14 affecteds - - Chile - - - - - 13 Johan den Dunnen
-?/. - c.6C>T r.(?) p.(Asp2=) Unknown - likely benign g.44589215C>T g.43169105C>T - - CRYAA_000010 - PubMed: Li 2019 - rs872331 Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam4PatIV1 PubMed: Li 2019 4-generation family, 4 affected (2F, 2M) F - China - - - - - 4 Johan den Dunnen
+/. 1 c.27G>A r.(?) p.(Trp9*) Paternal (confirmed) - pathogenic g.44589236G>A g.43169126G>A - - CRYAA_000001 not in 140 control chromosomes PubMed: Pras 2000, OMIM:var0002 - rs74315440 Germline - - HinfI+ - - DNA SSCA, SEQ - - CTRCT - - 4-generation family, 3 affected sisters F yes Iran Jewish - - - - 6 Johan den Dunnen
+/. 1 c.27G>A r.(?) p.(Trp9*) Maternal (confirmed) - pathogenic g.44589236G>A g.43169126G>A - - CRYAA_000001 not in 140 control chromosomes PubMed: Pras 2000, OMIM:var0002 - rs74315440 Germline - - HinfI+ - - DNA SSCA, SEQ - - CTRCT - - 4-generation family, 3 affected sisters F yes Iran Jewish - - - - 6 Johan den Dunnen
+/. 1 c.34C>T r.(?) p.(Arg12Cys) Maternal (confirmed) - pathogenic (dominant) g.44589243C>T g.43169133C>T - - CRYAA_000002 not in 340 control chromosomes PubMed: Hansen 2007, PubMed: Hansen 2009 - - Germline - - - - - DNA SEQ - - CTRCT CCMC0101 PubMed: Hansen 2007, PubMed: Hansen 2009 3-generation family, affected mother and son M - Denmark - - - - - 2 Lars Hansen
+/. 1 c.34C>T r.(?) p.(Arg12Cys) Parent #1 - pathogenic g.44589243C>T g.43169133C>T - - CRYAA_000002 - PubMed: Zhang 2009 - - Germline - - - - - DNA SEQ - - CTRCT - - 3-generation family, 6 affecteds - - China - - - - - 6 Johan den Dunnen
+/. 1 c.34C>T r.(?) p.(Arg12Cys) Parent #1 - pathogenic g.44589243C>T g.43169133C>T 104C>T - CRYAA_000002 not in 100 control chromosomes PubMed: Devi 2008 - - Germline - - ApaLI+ - - DNA SEQ - - CTRCT - - affected mother and son - - India - - - - - 2 Johan den Dunnen
+/. 1 c.34C>T r.(?) p.(Arg12Cys) Parent #1 - pathogenic g.44589243C>T g.43169133C>T - - CRYAA_000002 not in 100 control chromosomes PubMed: Santana 2009 - - Germline - - HhaI- - - DNA SEQ - - CTRCT - - 2-generation family, 3 affecteds - - Brazil - - - - - 3 Johan den Dunnen
+/. - c.34C>T r.(?) p.(Arg12Cys) Unknown - pathogenic g.44589243C>T g.43169133C>T CRYAA(NM_000394.2):c.34C>T (p.(Arg12Cys)), CRYAA(NM_000394.4):c.34C>T (p.R12C) - CRYAA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.34C>T r.(?) p.(Arg12Cys) Unknown - pathogenic g.44589243C>T - CRYAA(NM_000394.2):c.34C>T (p.(Arg12Cys)), CRYAA(NM_000394.4):c.34C>T (p.R12C) - CRYAA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.34C>T r.(?) p.(Arg12Cys) Unknown - likely pathogenic g.44589243C>T g.43169133C>T c.34C-->T; p.Arg12Cys - CRYAA_000002 no Sanger sequencing; heterozygous PubMed: Patel 2019 - - Germline ? - - - - DNA SEQ-NG blood - GLC1A 71 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.34C>T r.(?) p.(Arg12Cys) Unknown ACMG likely pathogenic g.44589243C>T g.43169133C>T CRYAA c.34C>T p.(Arg12Cys) het - CRYAA_000002 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 144 genes panel tested retinal disease 17021643 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.34C>T r.(?) p.(Arg12Cys) Unknown - pathogenic (dominant) g.44589243C>T g.43169133C>T - - CRYAA_000002 - PubMed: Zhang 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT WCC10PatIII2 PubMed: Zhang 2018 3-generation family, 3 affected (2F, M) M - China - - - - - 3 Johan den Dunnen
+/. - c.34C>T r.(?) p.(Arg12Cys) Parent #1 - pathogenic (dominant) g.44589243C>T g.43169133C>T - - CRYAA_000002 - PubMed: Reis 2013 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES CTRCT Pat22 PubMed: Reis 2013 - - - Canada white - - - - 1 Johan den Dunnen
+/. - c.34C>T r.(?) p.(Arg12Cys) Unknown - pathogenic g.44589243C>T - CRYAA(NM_000394.2):c.34C>T (p.(Arg12Cys)), CRYAA(NM_000394.4):c.34C>T (p.R12C) - CRYAA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.35G>T r.(?) p.(Arg12Leu) Paternal (confirmed) - likely pathogenic g.44589244G>T g.43169134G>T - - CRYAA_000021 - - - - Germline yes - - - - DNA SEQ - - CTRCT - - - F no China Chinese - - - - 1 Zongfu Cao
+?/. - c.35G>T r.(?) p.(Arg12Leu) Paternal (confirmed) ACMG likely pathogenic (dominant) g.44589244G>T g.43169134G>T - - CRYAA_000021 ACMG PM1, PM2, PP1, PP2, PP3 PubMed: Zhuang 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 18-gene panel CTRCT CAT-27 PubMed: Zhuang 2019 3-generation family, 3 affected (F, 2M) F;M - China - - - - - 3 Johan den Dunnen
+/. 1 c.61C>T r.(?) p.(Arg21Trp) Parent #1 - pathogenic g.44589270C>T g.43169160C>T - - CRYAA_000003 not in 340 control chromosomes PubMed: Hansen 2009 - - Germline - - - - - DNA SEQ - - CTRCT CC00105 PubMed: Hansen 2009 4-generation family, 12 affected (4F, 8M), incomplete penetrance F;M - Denmark - - - - - 12 Lars Hansen
+/. 1 c.61C>T r.(?) p.(Arg21Trp) Maternal (confirmed) - pathogenic g.44589270C>T g.43169160C>T - - CRYAA_000003 not in 340 control chromosomes PubMed: Hansen 2007, PubMed: Hansen 2009 - - Germline - - - - - DNA SEQ - - CTRCT CCMC0108 PubMed: Hansen 2007, PubMed: Hansen 2009 4-generation family, 5 affected Fs F - Denmark - - - - - 5 Lars Hansen
+/. 1 c.61C>T r.(?) p.(Arg21Trp) Parent #1 - pathogenic g.44589270C>T g.43169160C>T - - CRYAA_000003 not in 340 control chromosomes PubMed: Hansen 2009 - - Germline - - - - - DNA SEQ - - CTRCT CC00124 PubMed: Hansen 2009 4-generation family, 8 affected (3F, 5M) F;M - Denmark - - - - - 8 Lars Hansen
+/. 1 c.61C>T r.(?) p.(Arg21Trp) Parent #1 - pathogenic g.44589270C>T g.43169160C>T 130C>T - CRYAA_000003 not in 100 control chromosomes PubMed: Devi 2008 - - Germline - - MspI- - - DNA SEQ - - CTRCT - - affected father and daugther - - India - - - - - 2 Johan den Dunnen
+/. 1 c.61C>T r.(?) p.(Arg21Trp) Paternal (confirmed) - pathogenic g.44589270C>T g.43169160C>T - - CRYAA_000003 - PubMed: Kondo 2013 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CCTRCT 23441109-FamAPatMC41 PubMed: Kondo 2013 3-generation family, 6-affecteds (3F, 3M), PatMC41 M - Korea Korean - - - - 6 Jamie Zeegers
+/. 1 c.61C>T r.(?) p.(Arg21Trp) Maternal (confirmed) - pathogenic g.44589270C>T g.43169160C>T - - CRYAA_000003 - PubMed: Kondo 2013 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CCTRCT 23441109-FamAPatMC42 PubMed: Kondo 2013 PatMC42 F - Korea Korean - - - - 1 Jamie Zeegers
+/. - c.61C>T r.(?) p.(Arg21Trp) Unknown - pathogenic g.44589270C>T g.43169160C>T CRYAA(NM_000394.4):c.61C>T (p.R21W) - CRYAA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.61C>T r.(?) p.(Arg21Trp) Unknown ACMG likely pathogenic g.44589270C>T g.43169160C>T CRYAA c.61C>T p.(Arg21Trp) het - CRYAA_000003 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 114 genes panel tested retinal disease 15021428 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.61C>T r.(?) p.(Arg21Trp) Unknown ACMG likely pathogenic g.44589270C>T g.43169160C>T CRYAA c.61C>T p.(Arg21Trp) het - CRYAA_000003 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 144 genes panel tested retinal disease 17026278 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.61C>T r.(?) p.(Arg21Trp) Unknown - pathogenic g.44589270C>T - CRYAA(NM_000394.4):c.61C>T (p.R21W) - CRYAA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.61C>T r.(?) p.(Arg21Trp) Paternal (confirmed) - pathogenic (dominant) g.44589270C>T g.43169160C>T - - CRYAA_000003 - PubMed: Fernandez-Alcalde 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam04 PubMed: Fernandez-Alcalde 2021 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21Trp) Unknown - pathogenic (dominant) g.44589270C>T g.43169160C>T - - CRYAA_000003 - PubMed: Zhang 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT WCC12PatIII1 PubMed: Zhang 2018 3-generation family, 3 affected (2F, M) M - China - - - - - 3 Johan den Dunnen
+?/. - c.61C>T r.(?) p.(Arg21Trp) Parent #1 ACMG likely pathogenic (dominant) g.44589270C>T g.43169160C>T - - CRYAA_000003 ACMG PM1, PM2, PP1, PP2, PP3, PP5 PubMed: Zhuang 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 18-gene panel CTRCT CAT-42 PubMed: Zhuang 2019 family - - China - - - - - 1 Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21Trp) Parent #1 - pathogenic (dominant) g.44589270C>T g.43169160C>T - - CRYAA_000003 - PubMed: Sun 2017 - - Germline yes - - - - DNA SEQ-NG - gene panel CTRCT FamA PubMed: Sun 2017 2-generation family, 4 affected (2F, 2M) F;M - China - - - - - 4 Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21Trp) Paternal (confirmed) - pathogenic (dominant) g.44589270C>T g.43169160C>T - - CRYAA_000003 - PubMed: Li 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - 80 gene panel CTRCT Fam1PatII1 PubMed: Li 2018 2-generation family, affected father/daughter F - China - - - - - 2 Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21Trp) Maternal (confirmed) - pathogenic (dominant) g.44589270C>T g.43169160C>T - - CRYAA_000003 - PubMed: Fan 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam4 PubMed: Fan 2020 2-generation family, affected mother/sib - - China - - - - - 2 Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21Trp) Paternal (confirmed) - pathogenic (dominant) g.44589270C>T g.43169160C>T - - CRYAA_000003 - PubMed: Ma 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam23PatI1 PubMed: Ma 2016 2-generation family, affected father/2 sons M - Australia - - - - - 3 Johan den Dunnen
+/. 1 c.61C>T r.(?) p.(Arg21Trp) Maternal (confirmed) - pathogenic (dominant) g.44589270C>T g.43169160C>T - - CRYAA_000003 - PubMed: Liu 2023 rs397515625 rs397515625 Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam136Pat362 PubMed: Liu 2023 2-generation family, affected mother/son M - China - - - - - 2 Johan den Dunnen
+/. 1 c.61C>T r.(?) p.(Arg21Trp) Unknown - pathogenic (dominant) g.44589270C>T g.43169160C>T - - CRYAA_000003 - PubMed: Liu 2023 rs397515625 rs397515625 Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam136Pat364 PubMed: Liu 2023 mother F - China - - - - - 1 Johan den Dunnen
+/. 1 c.62G>A r.(?) p.(Arg21Gln) Maternal (confirmed) - pathogenic g.44589271G>A g.43169161G>A - - CRYAA_000014 - PubMed: Laurie 2013, Journal: Laurie 2013 - - Germline yes - PvuII+ - - DNA SEQ - - CTRCT 23255486-FamCSA91PatIII2 PubMed: Laurie 2013, Journal: Laurie 2013 3-generation family, 5 affecteds (F, 4M), PatIII2 M no Australia - - - - - 5 Kathryn Burdon
+/. 1 c.62G>A r.(?) p.(Arg21Gln) Maternal (confirmed) - pathogenic g.44589271G>A g.43169161G>A - - CRYAA_000014 - PubMed: Javadiyan 2016, Journal: Javadiyan 2016 - - Germline yes - - - - DNA PCR, SEQ - - CCTRCT 26867756-FamCSA110Pat01 PubMed: Javadiyan 2016, Journal: Javadiyan 2016 4-generation family, 6-affecteds (3F, 3M), Pat01 F no Australia Australian >16y - - Surgery 6 Jamie Zeegers
+/. 1 c.62G>A r.(?) p.(Arg21Gln) Maternal (confirmed) - pathogenic g.44589271G>A g.43169161G>A - - CRYAA_000014 - PubMed: Javadiyan 2016, Journal: Javadiyan 2016 - - Germline yes - - - - DNA PCR, SEQ - - CCTRCT 26867756-FamCSA110Pat03 PubMed: Javadiyan 2016, Journal: Javadiyan 2016 Pat03 F no Australia Australian >46y - - Surgery 1 Jamie Zeegers
+/. 1 c.62G>A r.(?) p.(Arg21Gln) Maternal (confirmed) - pathogenic g.44589271G>A g.43169161G>A - - CRYAA_000014 - PubMed: Javadiyan 2016, Journal: Javadiyan 2016 - - Germline yes - - - - DNA PCR, SEQ - - CCTRCT 26867756-FamCSA110Pat07 PubMed: Javadiyan 2016, Journal: Javadiyan 2016 Pat07 M no Australia Australian - - - Surgery 1 Jamie Zeegers
+/. 1 c.62G>A r.(?) p.(Arg21Gln) Parent #1 - pathogenic g.44589271G>A g.43169161G>A - - CRYAA_000014 - PubMed: Javadiyan 2016, Journal: Javadiyan 2016 - - Germline yes - - - - DNA PCR, SEQ - - CCTRCT 26867756-FamCSA110Pat04 PubMed: Javadiyan 2016, Journal: Javadiyan 2016 Pat04 F no Australia Australian >76y - - Surgery 1 Jamie Zeegers
+/. 1 c.62G>A r.(?) p.(Arg21Gln) Parent #1 - pathogenic g.44589271G>A g.43169161G>A - - CRYAA_000014 - PubMed: Javadiyan 2016, Journal: Javadiyan 2016 - - Germline yes - - - - DNA PCR, SEQ - - CCTRCT 26867756-FamCSA110Pat05 PubMed: Javadiyan 2016, Journal: Javadiyan 2016 Pat05 M no Australia Australian >61y - - Surgery 1 Jamie Zeegers
+/. 1 c.62G>A r.(?) p.(Arg21Gln) Parent #1 - pathogenic g.44589271G>A g.43169161G>A - - CRYAA_000014 - PubMed: Javadiyan 2016, Journal: Javadiyan 2016 - - Germline yes - - - - DNA PCR, SEQ - - Healthy/Control 26867756-FamCSA110Pat02 PubMed: Javadiyan 2016, Journal: Javadiyan 2016 Pat02 M - Australia Australian >20y - - - 1 Jamie Zeegers
+/. 1 c.62G>T r.(?) p.(Arg21Leu) Parent #1 - pathogenic g.44589271G>T g.43169161G>T 62C>T - CRYAA_000008 not in 192 control chromosomes PubMed: Graw 2006 - - Germline - - HpaII- - - DNA SEQ - - CTRCT - - - - - Germany - - - - - 1 Johan den Dunnen
+?/. - c.62G>T r.(?) p.(Arg21Leu) Unknown ACMG likely pathogenic g.44589271G>T g.43169161G>T CRYAA c.62G>T p.(Arg21Leu) het - CRYAA_000008 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 114 genes panel tested retinal disease 15007971 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.142T>G r.(?) p.(Tyr48Asp) Paternal (confirmed) - likely pathogenic (dominant) g.44589351T>G g.43169241T>G - - CRYAA_000034 - PubMed: Ma 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam16PatI2 PubMed: Ma 2016 3-generation family, 4 affected (2F, 2M) F - Australia - - - - - 4 Johan den Dunnen
+/. 1 c.145C>T r.(?) p.(Arg49Cys) Parent #1 - pathogenic g.44589354C>T g.43169244C>T - - CRYAA_000004 mapped by linkage (LOD 3.3) PubMed: Mackay 2003, OMIM:var0003 - rs74315441 Germline - - AciI- - - DNA SEQ - - CTRCT - - 4-generation family, 12 affecteds - - United States white - - - - 12 Johan den Dunnen
+/. 1 c.145C>T r.(?) p.(Arg49Cys) Parent #1 - pathogenic g.44589354C>T g.43169244C>T 155C>T - CRYAA_000004 - PubMed: Hansen 2009 - rs74315441 Germline - - AciI- - - DNA SEQ - - CTRCT CC00174 PubMed: Hansen 2009 2-generation family, affected mother and daugther F - - - - - - - 2 Lars Hansen
+/. 1 c.145C>T r.(145c>u) p.Arg49Cys Unknown - NA g.44589354C>T g.43169244C>T - - CRYAA_000004 expression cloning lens epithelial cells abnormal localization to nucleus, failed to protect from staurosporine-induced apoptotic cell death PubMed: Mackay 2003 - rs74315441 In vitro (cloned) - - - - - DNA SEQ leukocytes test known APC variant (relative) FAP1 - - - F - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/. - c.145C>T r.(?) p.(Arg49Cys) Parent #1 - pathogenic g.44589354C>T g.43169244C>T - - CRYAA_000004 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs74315441 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.145C>T r.(?) p.(Arg49Cys) Both (homozygous) - pathogenic (recessive) g.44589354C>T g.43169244C>T - - CRYAA_000004 - PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F14‐M PubMed: Patel 2017 family - yes Saudi Arabia - - - - - 1 LOVD
+?/. - c.145C>T r.(?) p.(Arg49Cys) Maternal (confirmed) - likely pathogenic (dominant) g.44589354C>T g.43169244C>T - - CRYAA_000004 - PubMed: Berry 2020 - - Germline yes - - - - DNA SEQ-NG - WES CTRCT FamAPatIV9 PubMed: Berry 2020 5-generation family, 19 (13F, 6M) affected M - United Kingdom (Great Britain) - - - - - 19 Johan den Dunnen
-?/. - c.154C>T r.(?) p.(Leu52Phe) Unknown - likely benign g.44589363C>T - CRYAA(NM_000394.3):c.154C>T (p.L52F) - CRYAA_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.(160C>T) r.160c>u p.Arg54Cys Paternal (confirmed) - pathogenic g.44589369C>T g.43169259C>T mouse - CRYAA_000000 nm3365 mouse, spontaneous mutant PubMed: Xia 2006 - - Germline - - - - - DNA SEQ - - CTRCT - PubMed: Xia 2006 - - - - - - - - - 1 Johan den Dunnen
+/. 1 c.(160C>T) r.160c>u p.Arg54Cys Maternal (confirmed) - pathogenic g.44589369C>T g.43169259C>T mouse - CRYAA_000000 nm3365 mouse, spontaneous mutant PubMed: Xia 2006 - - Germline - - - - - DNA SEQ - - CTRCT - PubMed: Xia 2006 - - - - - - - - - 1 Johan den Dunnen
+/. 1 c.160C>T r.(?) p.(Arg54Cys) Both (homozygous) - pathogenic (recessive) g.44589369C>T g.43169259C>T - - CRYAA_000009 - PubMed: Khan 2007, PubMed: Khan 2015 - - Germline yes - - - - DNA SEQ - - CTRCT FamPatIV5 PubMed: Khan 2007, PubMed: Khan 2015 4-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents F yes Saudi Arabia - - - - - 4 Johan den Dunnen
+/. 1 c.160C>T r.(?) p.(Arg54Cys) Both (homozygous) - pathogenic (recessive) g.44589369C>T g.43169259C>T - - CRYAA_000009 - PubMed: Khan 2007, PubMed: Khan 2015 - - Germline yes - - - - DNA SEQ - - CTRCT FamPatIV6 PubMed: Khan 2007, PubMed: Khan 2015 brother of 17937925-Fam.IV5 M yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 1 c.160C>T r.(?) p.(Arg54Cys) Both (homozygous) - pathogenic (recessive) g.44589369C>T g.43169259C>T - - CRYAA_000009 - PubMed: Khan 2007, PubMed: Khan 2015 - - Germline yes - - - - DNA SEQ - - CTRCT FamPatIV12 PubMed: Khan 2007, PubMed: Khan 2015 sister of 17937925-Fam.IV5 F yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 1 c.160C>T r.(?) p.(Arg54Cys) Both (homozygous) - pathogenic (recessive) g.44589369C>T g.43169259C>T - - CRYAA_000009 - PubMed: Khan 2007PubMed: Khan 2007, PubMed: Khan 2015 - - Germline yes - - - - DNA SEQ - - CTRCT FamPatIV13 PubMed: Khan 2007, PubMed: Khan 2015 nephew of 17937925-Fam.IV5 M yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 1 c.160C>T r.(?) p.(Arg54Cys) Parent #1 - pathogenic g.44589369C>T g.43169259C>T 230C>T - CRYAA_000009 not in 100 control chromosomes PubMed: Devi 2008 - - Germline - - HpyCH4V+ - - DNA SEQ - - CTRCT - - affected mother and son - - India - - - - - 2 Johan den Dunnen
+/. - c.160C>T r.(?) p.(Arg54Cys) Parent #1 ACMG pathogenic (dominant) g.44589369C>T g.43169259C>T - - CRYAA_000000 - PubMed: Javadiyan 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - gene panel CTRCT CRVEEH111 PubMed: Javadiyan 2017 3-generation family, 4 affected (2F, 2M) F;M - Australia - - - - - 4 Johan den Dunnen
+/. 1 c.160C>T r.(?) p.(Arg54Cys) Parent #1 - pathogenic (!) g.44589369C>T g.43169259C>T - - CRYAA_000000 incomplete penetrance PubMed: Liu 2023 rs397515623 rs397515623 Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam6Pat22 PubMed: Liu 2023 2-generation family F - China - - - - - 2 Johan den Dunnen
+/. 1 c.160C>T r.(?) p.(Arg54Cys) Parent #1 - pathogenic (!) g.44589369C>T g.43169259C>T - - CRYAA_000000 incomplete penetrance PubMed: Liu 2023 rs397515623 rs397515623 Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel Healthy/Control Fam6Pat23 PubMed: Liu 2023 relative F - China - - - - - 1 Johan den Dunnen
+/. 1 c.(161G>A) r.(?) p.(Arg54His) Paternal (confirmed) - pathogenic g.44589370G>A g.43169260G>A mouse - CRYAA_000000 lop18 mouse PubMed: Chang 1999 - - Germline - - - - - DNA SEQ - - CTRCT - PubMed: Chang 1999 - - - - - - - - - 1 Johan den Dunnen
+/. 1 c.(161G>A) r.(?) p.(Arg54His) Maternal (confirmed) - pathogenic g.44589370G>A g.43169260G>A mouse - CRYAA_000000 lop18 mouse PubMed: Chang 1999 - - Germline - - - - - DNA SEQ - - CTRCT - PubMed: Chang 1999 - - - - - - - - - 1 Johan den Dunnen
?/. - c.161G>A r.(?) p.(Arg54His) Unknown - VUS g.44589370G>A - CRYAA(NM_000394.3):c.161G>A (p.R54H) - CRYAA_000000 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.161G>C r.(?) p.(Arg54Pro) Parent #1 - pathogenic g.44589370G>C g.43169260G>C - - CRYAA_000019 - PubMed: Dongmei 2012 - - Germline yes - - - - DNA PCR - - CCTRCT 23288997-FamPatIII5 PubMed: Dongmei 2012 3-generation family, 4 affecteds (2F, 2M) F - China Chinese >45y - - - 4 Jamie Zeegers
+/. 1 c.161G>C r.(?) p.(Arg54Pro) Parent #1 - pathogenic g.44589370G>C g.43169260G>C - - CRYAA_000019 - PubMed: Dongmei 2012 - - Germline yes - - - - DNA PCR - - CCTRCT 23288997-FamPatII7 PubMed: Dongmei 2012 PatII7 M - China Chinese >43y - - - 1 Jamie Zeegers
+/. 1 c.161G>C r.(?) p.(Arg54Pro) Parent #1 - pathogenic g.44589370G>C g.43169260G>C - - CRYAA_000019 - PubMed: Dongmei 2012 - - Germline yes - - - - DNA PCR - - CCTRCT 23288997-FamPatIII6 PubMed: Dongmei 2012 PatIII6 M - China Chinese >13y - - - 1 Jamie Zeegers
+/. 1 c.161G>C r.(?) p.(Arg54Pro) Parent #1 - pathogenic g.44589370G>C g.43169260G>C - - CRYAA_000019 - PubMed: Dongmei 2012 - - Germline yes - - - - DNA PCR - - CCTRCT 23288997-FamPatIII2 PubMed: Dongmei 2012 PatIII2 F - China Chinese - - - - 1 Jamie Zeegers
+/. - c.161G>C r.(?) p.(Arg54Pro) Both (homozygous) - pathogenic (recessive) g.44589370G>C g.43169260G>C - - CRYAA_000019 - PubMed: Patel 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CTRCT 10DG1375 PubMed: Patel 2017 family - - - - - - - - 2 Johan den Dunnen
?/. - c.188A>T r.(?) p.(Glu63Val) Unknown - VUS g.44589397A>T - CRYAA(NM_000394.2):c.188A>T (p.(Glu63Val)) - CRYAA_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1i c.189+11dup r.(=) p.(=) Maternal (confirmed) - benign g.44589409dup g.43169299dup IVS1+10insG - CRYAA_000016 - PubMed: Santhiya 2006 - - Germline - - - - - DNA SEQ - - CTRCT - - 4-generation family, 3 affected Fs, 1 male F - India - - - - - 4 Johan den Dunnen
?/. 1i c.189+57G>A r.(=) p.(=) Unknown - VUS g.44589455G>A g.43169345G>A 189+56G>A - CRYAA_000012 - PubMed: Pang 2002 - - Germline - - - - - DNA SEQ - - Healthy/Control - - - - - China - - - - - 2 Johan den Dunnen
?/. 1i c.189+171C>T r.(=) p.(=) Unknown - VUS g.44589569C>T g.43169459C>T 189+170C>T - CRYAA_000011 not in controls PubMed: Pang 2002 - rs11700709 Germline - - - - - DNA SEQ - - CTRCT - - - - - China - - - - - 1 Johan den Dunnen
-/. 1i c.190-36dup r.(=) p.(=) Maternal (confirmed) - benign g.44590591dup g.43170481dup IVS1-36insC - CRYAA_000017 - PubMed: Santhiya 2006 - - Germline - - - - - DNA SEQ - - CTRCT - - 4-generation family, 3 affected Fs, 1 male F - India - - - - - 4 Johan den Dunnen
+/. - c.193C>T r.(?) p.(Arg65Ter) Unknown - pathogenic g.44590630C>T g.43170520C>T - - CRYAA_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.213C>A r.(?) p.Phe71Leu Unknown - NA g.44590650C>A g.43170540C>A - - CRYAA_000015 tested in vitro in several assays PubMed: Bhagyalaxmi 2009 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.213C>A r.(?) p.(Phe71Leu) Paternal (inferred) - pathogenic g.44590650C>A g.43170540C>A - - CRYAA_000015 not in 530 control chromosomes; 3/711 ARC patients PubMed: Bhagyalaxmi 2009 - - Germline - 3/1422 - - - DNA SSCA, SEQ - - CTRCT - - 3 unrelated cases - - India - - - - - 3 Johan den Dunnen
+/. 2 c.213C>A r.(?) p.(Phe71Leu) Maternal (inferred) - pathogenic g.44590650C>A g.43170540C>A - - CRYAA_000015 - PubMed: Bhagyalaxmi 2009 - - Germline - 3/1422 - - - DNA SSCA, SEQ - - CTRCT - - 3 unrelated cases - - India - - - - - 3 Johan den Dunnen
-?/. - c.213C>T r.(?) p.(Phe71=) Unknown - likely benign g.44590650C>T - CRYAA(NM_000394.3):c.213C>T (p.F71=) - CRYAA_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.235C>A r.(?) p.(His79Asn) Unknown - VUS g.44590672C>A - CRYAA(NM_000394.3):c.235C>A (p.H79N) - CRYAA_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.253C>T r.(?) p.(Leu85Phe) Parent #1 ACMG likely pathogenic (dominant) g.44590690C>T g.43170580C>T - - CRYAA_000036 ACMG PM1, PM2, PP1, PP3 PubMed: Khidiyatova 2023 - - Germline - - - - - DNA SEQ - gene panel CTRCT Fam1 PubMed: Khidiyatova 2023 family, 2 affected - - Russia Tatar - - - - 2 Johan den Dunnen
+?/. - c.275A>G r.(?) p.(Asp92Gly) Unknown - likely pathogenic g.44590712A>G g.43170602A>G c.275A-->G; p.Asp92Gly - CRYAA_000027 no Sanger sequencing; heterozygous PubMed: Patel 2019 - - Germline ? - - - - DNA SEQ-NG blood - GLC1A 287 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.291C>G r.(?) p.(His97Gln) Parent #1 ACMG likely pathogenic (dominant) g.44590728C>G g.43170618C>G - - CRYAA_000037 ACMG PM1, PM2, PP2 ,PP3 PubMed: Khidiyatova 2023 - - Germline - - - - - DNA SEQ - gene panel CTRCT Fam2 PubMed: Khidiyatova 2023 patient - - Russia Bashkir - - - - 1 Johan den Dunnen
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