Full data view for gene LCA5

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

229 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.-298+13T>G r.(=) p.(=) Parent #1 - VUS g.80246820A>C g.79537103A>C - - LCA5_000070 9 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs9343917 Germline - 9/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 9 Mohammed Faruq
-/. - c.-297-18C>T r.(=) p.(=) Unknown - benign g.80235004G>A g.79525287G>A - - LCA5_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2i c.-192+748_-192+2345del r.(=) p.(=) Both (homozygous) - likely pathogenic g.80232537_80234134del g.79522820_79524417del g.[-19612_-18015]del1598 - LCA5_000004 - PubMed: Hollander 2007, OMIM:var0004 - - Germline yes - - - - DNA SEQ - - LCA5 - PubMed: Hollander et al 2007 1 familie, 2 patients F yes - - - - - - 1 Frans Cremers
+?/. 2i c.-192+748_-192+2345del r.(=) p.(=) Both (homozygous) - likely pathogenic g.80232537_80234134del g.79522820_79524417del g.[-19612_-18015]del1598 - LCA5_000004 - PubMed: den Hollander 2007, OMIM:var0004 - - Germline yes - - - - DNA SEQ - - LCA5 - PubMed: Hollander et al 2007 - M yes - - - - - - 1 Frans Cremers
-/. - c.-62A>G r.(?) p.(=) Unknown - benign g.80228673T>C g.79518956T>C - - LCA5_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.? r.(?) p.0? Both (homozygous) - likely pathogenic g.80232537_80234134del g.79522820_79524417del LCA5 - LCA5_000004 homozygous mutation, described in paper as ""Old Order River Brethren"" mutation according to ClinVar was originally reported by Dharmaraj et al. (2000); in 2007 den Hollander et al. identified a 1,598-bp deletion in the LCA5 gene that encompassed 1,077 bp of the promoter region and noncoding exon 1 (g.(-19612)-(-18015)del1598); in this paper the boundaries are not mentioned PubMed: Mohamed 2003 - - Germline yes - - - - DNA STR - - retinal disease IV3 PubMed: Mohamed 2003 Family 1, individual IV3 M yes United Kingdom (Great Britain) Pakistan - - - - 1 LOVD
+?/. - c.? r.(?) p.0? Both (homozygous) - likely pathogenic g.80232537_80234134del g.79522820_79524417del LCA5 - LCA5_000004 homozygous mutation, described in paper as ""Old Order River Brethren"" mutation according to ClinVar was originally reported by Dharmaraj et al. (2000); in 2007 den Hollander et al. identified a 1,598-bp deletion in the LCA5 gene that encompassed 1,077 bp of the promoter region and noncoding exon 1 (g.(-19612)-(-18015)del1598); in this paper the boundaries are not mentioned PubMed: Mohamed 2003 - - Germline yes - - - - DNA STR - - retinal disease IV4 PubMed: Mohamed 2003 Family 1, individual IV4 M yes United Kingdom (Great Britain) Pakistan - - - - 1 LOVD
+?/. - c.? r.(?) p.0? Both (homozygous) - likely pathogenic g.80232537_80234134del g.79522820_79524417del LCA5 - LCA5_000004 homozygous mutation, described in paper as ""Old Order River Brethren"" mutation according to ClinVar was originally reported by Dharmaraj et al. (2000); in 2007 den Hollander et al. identified a 1,598-bp deletion in the LCA5 gene that encompassed 1,077 bp of the promoter region and noncoding exon 1 (g.(-19612)-(-18015)del1598); in this paper the boundaries are not mentioned PubMed: Mohamed 2003 - - Germline yes - - - - DNA STR - - retinal disease IV5 PubMed: Mohamed 2003 Family 1, individual IV5 M yes United Kingdom (Great Britain) Pakistan - - - - 1 LOVD
+?/. - c.? r.(?) p.0? Both (homozygous) - likely pathogenic g.80232537_80234134del g.79522820_79524417del LCA5 - LCA5_000004 homozygous mutation, described in paper as ""Old Order River Brethren"" mutation according to ClinVar was originally reported by Dharmaraj et al. (2000); in 2007 den Hollander et al. identified a 1,598-bp deletion in the LCA5 gene that encompassed 1,077 bp of the promoter region and noncoding exon 1 (g.(-19612)-(-18015)del1598); in this paper the boundaries are not mentioned PubMed: Mohamed 2003 - - Germline yes - - - - DNA STR - - retinal disease V1 PubMed: Mohamed 2003 Family 1, individual V1 M yes United Kingdom (Great Britain) Pakistan - - - - 1 LOVD
+?/. - c.? r.(?) p.0? Both (homozygous) - likely pathogenic g.80232537_80234134del g.79522820_79524417del LCA5 - LCA5_000004 homozygous mutation, described in paper as ""Old Order River Brethren"" mutation according to ClinVar was originally reported by Dharmaraj et al. (2000); in 2007 den Hollander et al. identified a 1,598-bp deletion in the LCA5 gene that encompassed 1,077 bp of the promoter region and noncoding exon 1 (g.(-19612)-(-18015)del1598); in this paper the boundaries are not mentioned PubMed: Mohamed 2003 - - Germline yes - - - - DNA STR - - retinal disease V2 PubMed: Mohamed 2003 Family 1, individual V2 F yes United Kingdom (Great Britain) Pakistan - - - - 1 LOVD
+?/. 3 c.3G>A r.(?) p.(Met1?) Parent #1 - likely pathogenic g.80228609C>T g.79518892C>T Met1Ile - LCA5_000013 - PubMed: Mackay 2013, Journal: Mackay 2013 - - Germline - - - - - DNA ? - - LCA5 - PubMed: Mackay 2013, Journal: Mackay 2013 - - - - - - - - - 1 Frans Cremers
+?/+? 3 c.3G>A r.(?) p.(Met1?) Parent #1 - likely pathogenic g.80228609C>T g.79518892C>T - - LCA5_000013 - PubMed: den Hollander 2007 PubMed: Mackay 2013 - - Unknown ? - - - - DNA ? - - LCA5 - - - - - - - - - - - 1 Frans Cremers
-?/. - c.28A>G r.(?) p.(Thr10Ala) Unknown - likely benign g.80228584T>C g.79518867T>C LCA5(NM_181714.3):c.28A>G (p.T10A) - LCA5_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.42_45del r.(?) p.(Lys15Glnfs*95) Parent #1 - likely pathogenic g.80228574_80228577del g.79518857_79518860del 42_45delAAAG - LCA5_000021 - PubMed: Mackay 2013, Journal: Mackay 2013 - - Germline - - - - - DNA ? - - LCA5 - PubMed: Mackay 2013, Journal: Mackay 2013 - - - - - - - - - 1 Frans Cremers
+?/+? 3 c.42_45del r.(?) p.(Lys15Glnfs*95) Parent #1 - likely pathogenic g.80228574_80228577del g.79518857_79518860del - - LCA5_000028 - PubMed: Mackay 2013, Journal: Mackay 2013 - - Germline - - - - - DNA ? - - LCA5 - PubMed: Mackay 2013, Journal: Mackay 2013 - - ? China Chinese - - - - 1 Frans Cremers
+/. - c.42_45del r.(?) p.(Lys15GlnfsTer95) Parent #2 - pathogenic g.80228574_80228577del g.79518857_79518860del 35_38delAAGA - LCA5_000021 - PubMed: Wang 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 1668163 PubMed: Wang 2015 index case - - China - - - - - 1 LOVD
+?/+? 3 c.69C>G r.(?) p.(Tyr23*) Parent #1 - likely pathogenic g.80228543G>C g.79518826G>C - - LCA5_000030 - PubMed: Mackay 2013, Journal: Mackay 2013 - - Germline - - - - - DNA ? - - LCA5 - PubMed: Mackay 2013, Journal: Mackay 2013 - - - Taiwan Taiwanese - - - - 1 Frans Cremers
+/. - c.69C>G r.(?) p.(Tyr23*) Both (homozygous) ACMG pathogenic g.80228543G>C g.79518826G>C LCA5 NM_001122769: g.18633C>G, c.69C>G, p.Y23X - LCA5_000030 - PubMed: Xu 2020 - - Germline yes - - - - DNA SEQ-NG - targeted next-generation sequencing retinal disease 19264 PubMed: Xu 2020 - ? no China - - - - - 1 LOVD
-/. - c.71T>C r.(?) p.(Leu24Ser) Unknown - benign g.80228541A>G g.79518824A>G LCA5(NM_181714.4):c.71T>C (p.L24S) - LCA5_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.71T>C r.(?) p.(Leu24Ser) Unknown - benign g.80228541A>G g.79518824A>G LCA5(NM_181714.4):c.71T>C (p.L24S) - LCA5_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.71T>C r.(?) p.(Leu24Ser) Unknown - VUS g.80228541A>G g.79518824A>G LCA5 c.71T>C (p.L24S) - LCA5_000051 heterozygous PubMed: Seong 2009 - rs2655655 Unknown ? - - - - DNA SEQ - - retinal disease ? PubMed: Seong 2009 - ? - Korea, South (Republic) - - - - - 1 LOVD
-/. - c.77A>C r.(?) p.(Asp26Ala) Unknown - benign g.80228535T>G g.79518818T>G - - LCA5_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.77A>C r.(?) p.(Asp26Ala) Unknown - VUS g.80228535T>G g.79518818T>G LCA5 c.77A>C (p.D26A) - LCA5_000050 heterozygous PubMed: Seong 2009 - rs3406846 Unknown ? - - - - DNA SEQ - - retinal disease ? PubMed: Seong 2009 - ? - Korea, South (Republic) - - - - - 1 LOVD
+/. - c.91C>T r.(?) p.(Gln31*) Parent #1 ACMG pathogenic g.80228521G>A g.79518804G>A LCA5 NM_001122769: g.18655C>T, c.91C>T, p.Q31X - LCA5_000093 - PubMed: Xu 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ - targeted next-generation sequencing/Sanger sequencing retinal disease 67003 PubMed: Xu 2020 - ? no China - - - - - 1 LOVD
+?/. 3 c.103C>T r.(?) p.(Arg35*) Both (homozygous) - likely pathogenic g.80228509G>A g.79518792G>A - - LCA5_000005 - PubMed: Gerber 2007 - - Germline yes - - - - DNA ? - - LCA5 - PubMed: Gerber et al 2007 - F yes Algeria - - - - - 1 Frans Cremers
+/. 3 c.103C>T r.(?) p.(Arg35*) Paternal (confirmed) - pathogenic g.80228509G>A g.79518792G>A - - LCA5_000005 - PubMed: Corton 2014, Journal: Corton 2014 - - Germline yes - - - - DNA SEQ - - LCA - PubMed: Corton 2014, Journal: Corton 2014 - F no Spain - - - - - 1 Marta Corton
?/. - c.103C>T r.(?) p.(Arg35*) Unknown - VUS g.80228509G>A g.79518792G>A LCA5 nucleotide 1, protein 1:c.103C>T, p.Arg35* nucleotide 2, protein 2:c.194delC, p.Pro65Leufs*46 - LCA5_000005 heterozygous, ACMG unclassified - no access to supplementary table 2 PubMed: Hull 2020 - - Germline ? - - - - DNA ? blood NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families retinal disease 74 PubMed: Hull 2020 - ? - New Zealand Maori - - - - 1 LOVD
?/. 3 c.131C>A r.(?) p.(Ala44Glu) Parent #1 - VUS g.80228481G>T - c.131C>A - LCA5_000110 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing retinal disease - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
?/. - c.137T>A r.(?) p.(Val46Asp) Unknown - VUS g.80228475A>T g.79518758A>T LCA5(NM_181714.3):c.137T>A (p.V46D), LCA5(NM_181714.4):c.137T>A (p.V46D) - LCA5_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.137T>A r.(?) p.(Val46Asp) Unknown - VUS g.80228475A>T g.79518758A>T LCA5(NM_181714.3):c.137T>A (p.V46D), LCA5(NM_181714.4):c.137T>A (p.V46D) - LCA5_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.142A>T r.(?) p.(Arg48*) Both (homozygous) - likely pathogenic g.80228470T>A g.79518753T>A - - LCA5_000016 - PubMed: Mackay 2013, Journal: Mackay 2013 - - Germline - - - - - DNA ? - - LCA5 - PubMed: Mackay 2013, Journal: Mackay 2013 - - - - - - - - - 1 Frans Cremers
+?/. 3 c.142A>T r.(?) p.(Arg48*) Both (homozygous) - likely pathogenic g.80228470T>A g.79518753T>A - - LCA5_000016 - PubMed: Mackay 2013, Journal: Mackay 2013 - - Germline - - - - - DNA ? - - LCA5 - PubMed: Mackay 2013, Journal: Mackay 2013 - - - - - - - - - 1 Frans Cremers
+?/+? 3 c.142A>T r.(?) p.(Arg48*) Both (homozygous) - likely pathogenic g.80228470T>A g.79518753T>A - - LCA5_000016 - PubMed: Mackay 2013 - - Unknown ? - - - - DNA ? - - LCA5 - - - - - Spain Spanish - - - - 1 Frans Cremers
+?/+? 3 c.142A>T r.(?) p.(Arg48*) Both (homozygous) - likely pathogenic g.80228470T>A g.79518753T>A - - LCA5_000016 - PubMed: Mackay 2013 - - Unknown ? - - - - DNA ? - - LCA5 - - - - - Spain Spanish - - - - 1 Frans Cremers
+/. 3 c.149del r.(?) p.(Asn50Ilefs*61) Both (homozygous) - pathogenic g.80228468del g.79518751del - - LCA5_000037 - PubMed: Corton 2014, Journal: Corton 2014 - - Germline yes - - - - DNA SEQ - - LCA - PubMed: Corton 2014, Journal: Corton 2014 1 family, 3 affecteds, unaffected heterozygous carriers M yes Spain - - - - - 1 Marta Corton
-/. - c.191-9del r.(=) p.(=) Unknown - benign g.80223467del g.79513750del LCA5(NM_181714.4):c.191-9delC - LCA5_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.191-3del r.spl? p.? Unknown - likely benign g.80223466del g.79513749del LCA5(NM_181714.3):c.191-3delT - LCA5_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.194del r.(?) p.(Pro65Leufs*46) Unknown ACMG likely pathogenic g.80223458del g.79513741del LCA5 nucleotide 1, protein 1:c.103C>T, p.Arg35* nucleotide 2, protein 2:c.194delC, p.Pro65Leufs*46 - LCA5_000097 heterozygous, ACMG classified, novel (Table 2) PubMed: Hull 2020 - - Germline ? - - - - DNA ? blood NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families retinal disease 74 PubMed: Hull 2020 - ? - New Zealand Maori - - - - 1 LOVD
-/. - c.197G>A r.(?) p.(Arg66Gln) Unknown - benign g.80223452C>T g.79513735C>T - - LCA5_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.238C>T r.(?) p.(Arg80*) Both (homozygous) - pathogenic g.80223411>T - - - LCA5_000053 - Sharon, submitted - - Germline - - - - - DNA SEQ - - LCA - Sharon, submitted - M yes Israel Druze - - - - 1 Dror Sharon
+/. - c.238C>T r.(?) p.(Arg80*) Unknown ACMG pathogenic g.80223411G>A - - - LCA5_000053 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.238C>T r.(?) p.(Arg80Ter) Parent #2 - pathogenic g.80223411G>A g.79513694G>A - - LCA5_000053 - PubMed: Wang 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 141 PubMed: Wang 2015 index case - - China - - - - - 1 LOVD
+/. 4 c.256del r.(?) p.(Gln86Argfs*25) Both (homozygous) - pathogenic g.80223395del g.79513678del - - LCA5_000001 - PubMed: Abu-Safieh-2013 - - Germline yes - - - - DNA SEQ-NG-I - - RP - PubMed: Abu-Safieh-2013 - - - - - - - - - 1 Leen Abu Safieh
+?/+? 4 c.256del r.(?) p.(Gln86Argfs*25) Both (homozygous) - likely pathogenic g.80223395del g.79513678del - - LCA5_000033 - - - - Germline yes - - - - DNA ? - - RPar - - - - - - - - - - - 1 Frans Cremers
+?/+? 4 c.256del r.(?) p.(Gln86Argfs*25) Both (homozygous) - likely pathogenic g.80223395del g.79513678del - - LCA5_000033 - - - - Germline yes - - - - DNA ? - - RPar - - - - - - - - - - - 1 Frans Cremers
+?/+? 4 c.256del r.(?) p.(Gln86Argfs*25) Both (homozygous) - likely pathogenic g.80223395del g.79513678del - - LCA5_000033 - - - - Germline yes - - - - DNA ? - - RPar - - - - - - - - - - - 1 Frans Cremers
-?/. 4 c.301A>G r.(?) p.(Thr101Ala) Unknown - likely benign g.80223348T>C - c.301A>G - LCA5_000085 - PubMed: Chen-2013 - - Unknown - - - - - DNA SEQ blood - retinal disease - PubMed: Chen-2013 - M - China Chinese - - - - 1 LOVD
-?/. - c.325C>T r.(?) p.(Leu109=) Unknown - likely benign g.80223324G>A - LCA5(NM_181714.3):c.325C>T (p.L109=) - LCA5_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.334A>G r.(?) p.(Ile112Val) Unknown - VUS g.80223315T>C - c.334A>G (p.I112V) - LCA5_000103 - - - - Germline - - - - - DNA SEQ, SEQ-NG blood Whole exome sequencing retinal disease Patient 1 (II.1) PubMed: Herdergott-2015 - F yes Pakistan Pakistani - - - - 1 LOVD
?/. - c.338A>G r.(?) p.(Asn113Ser) Unknown - VUS g.80223311T>C g.79513594T>C LCA5(NM_181714.3):c.338A>G (p.N113S) - LCA5_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.338A>G r.(?) p.(Asn113Ser) Unknown - VUS g.80223311T>C g.79513594T>C A338G - LCA5_000063 - PubMed: Katagiri 2014 - rs181890907 Germline - - - - - DNA SEQ-NG - WES retinal disease RP#005 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
+?/+? 4 c.367C>T r.(?) p.(Gln123*) Parent #1 - likely pathogenic g.80223282G>A g.79513565G>A - - LCA5_000025 - PubMed: Mackay 2013, Journal: Mackay 2013 - - Germline - - - - - DNA ? - - LCA5 - PubMed: Mackay 2013, Journal: Mackay 2013 - - - United Kingdom (Great Britain) British, white - - - - 1 Frans Cremers
+/+ 4 c.393del r.(?) p.(Glu132Lysfs*5) Both (homozygous) - pathogenic g.80223259del g.79513542del 828delA - LCA5_000034 Contact: Carmen Ayuso: CAyuso@fjd.es PubMed: Vallespin 2010 - - Germline yes - - - - DNA SEQ - - LCA - - 1 familie, 1 patient ? yes Spain Spain - - - - 1 Leen Abu Safieh
+/. 4 c.393del r.(?) p.(Glu132Lysfs*5) Both (homozygous) - pathogenic g.80223259del g.79513542del - - LCA5_000034 - PubMed: Corton 2014, Journal: Corton 2014 - - Germline yes - - - - DNA SEQ - - LCA - PubMed: Corton 2014, Journal: Corton 2014 - F ? Spain - - - - - 1 Marta Corton
?/. - c.401A>C r.(?) p.(Lys134Thr) Unknown - VUS g.80223248T>G - - - LCA5_000073 - Doucette 2021, submitted - rs200395970 Germline yes - - - - DNA SEQ-NG - WES retinal degeneration M69 II-1 Doucette 2021, Submitted Affected sister in a 4 member family. Brother is reportedly affected however we were unable to examine him. Parents are both unaffected, presuming recessive inheritance pattern. F - Canada Middle eastern origin - - Yes - 2 Lance P Doucette
+?/. - c.401A>C r.(?) p.(Lys134Thr) Parent #1 - likely pathogenic g.80223248T>G g.79513531T>G LCA5, variant 1: c.516_519del/p.K172Nfs*3, variant 2: c.401A>C/p.K134T - LCA5_000073 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET6 targeted sequencing panel - see paper retinal disease 1147 PubMed: Weisschuh 2020 Filing key number: 808, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/+? 4 c.439_449dup r.(?) p.(Glu151*) Both (homozygous) - likely pathogenic g.80223200_80223210dup g.79513483_79513493dup - - LCA5_000032 - PubMed: Mackay 2013, Journal: Mackay 2013 - - Germline - - - - - DNA ? - - LCA5 - PubMed: Mackay 2013, Journal: Mackay 2013 - - - United Kingdom (Great Britain) British, white - - - - 1 Frans Cremers
+?/+? 4 c.491A>G r.(?) p.(His164Arg) Parent #2 - likely pathogenic g.80223158T>C g.79513441T>C - - LCA5_000031 - PubMed: Mackay 2013, Journal: Mackay 2013 - - Germline - - - - - DNA ? - - LCA5 - PubMed: Mackay 2013, Journal: Mackay 2013 - - - Taiwan Taiwanese - - - - 1 Frans Cremers
+/. - c.491A>G r.(?) p.(His164Arg) Unknown - pathogenic g.80223158T>C g.79513441T>C c.491T>C, p.(His164Arg) - LCA5_000031 error in annotation: c.491T>C instead of A>G, compound heterozygous PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 14012 PubMed: Wang 2019 - F - China - - - - - 1 LOVD
+?/. - c.516_519del r.(?) p.(Lys172Asnfs*3) Parent #1 - likely pathogenic g.80223132_80223135del g.79513415_79513418del LCA5, variant 1: c.516_519del/p.K172Nfs*3, variant 2: c.401A>C/p.K134T - LCA5_000096 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET6 targeted sequencing panel - see paper retinal disease 1147 PubMed: Weisschuh 2020 Filing key number: 808, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
?/. - c.521G>A r.(?) p.(Arg174His) Unknown - VUS g.80223128C>T g.79513411C>T LCA5(NM_181714.3):c.521G>A (p.R174H) - LCA5_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.535_536insT r.(?) p.(Gln179Leufs*8) Both (homozygous) - pathogenic g.80223113_80223114insA - c.535_536insT - LCA5_000109 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
?/. - c.547C>T r.(?) p.(Arg183Trp) Unknown - VUS g.80223102G>A g.79513385G>A LCA5(NM_181714.4):c.547C>T (p.R183W) - LCA5_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.586C>T r.(?) p.(Leu196=) Unknown - benign g.80223063G>A g.79513346G>A LCA5(NM_181714.4):c.586C>T (p.L196=) - LCA5_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 4 c.604T>C r.(?) p.(Ser202Pro) Both (homozygous) - pathogenic g.80223045A>G g.79513328A>G 1039T>C - LCA5_000035 - PubMed: Vallespin 2010 - - Germline yes - - - - DNA SEQ - - LCA - - - ? yes Spain - - - - - 1 Leen Abu Safieh
+/. 4 c.604T>C r.(?) p.(Ser202Pro) Both (homozygous) - pathogenic g.80223045A>G g.79513328A>G - - LCA5_000035 predicted to affect function, not in 100 controls PubMed: Corton 2014, Journal: Corton 2014 - - Germline yes - - - - DNA SEQ - - LCA - PubMed: Corton 2014, Journal: Corton 2014 1 family, 2 patients M yes Spain - - - - - 1 Marta Corton
+/. 4 c.604T>C r.(?) p.(Ser202Pro) Maternal (confirmed) - pathogenic g.80223045A>G g.79513328A>G - - LCA5_000035 predicted to affect function; not in 100 controls PubMed: Corton 2014, Journal: Corton 2014 - - Germline yes - - - - DNA SEQ - - LCA - PubMed: Corton 2014, Journal: Corton 2014 - F no Spain - - - - - 1 Marta Corton
+?/. - c.604T>C r.(?) p.(Ser202Pro) Unknown - likely pathogenic g.80223045A>G g.79513328A>G LCA5 c.1039T>C, p.Ser202Pro - LCA5_000035 obsolete nucleotide annotation, extrapolated from sequence and databases PubMed: Vallespin 2010 - - Unknown ? - - - - DNA ? - - retinal disease ? PubMed: Vallespin 2010 - ? - Spain - - - - - 1 LOVD
+/. - c.609A>G r.(?) p.(Leu203=) Unknown - pathogenic g.80223040T>C g.79513323T>C - - LCA5_000078 - PubMed: Costa 2017 - - Germline - - - - - DNA SEQ-NG - 132-gene panel retinal disease Pat4 PubMed: Costa 2017 - F - Brazil - - - - - 1 LOVD
+?/. 4 c.610C>T r.(?) p.(Gln204*) Both (homozygous) - likely pathogenic g.80223039G>A g.79513322G>A - - LCA5_000006 - PubMed: Gerber 2007 - - Germline yes - - - - DNA ? - - LCA5 - PubMed: Gerber et al 2007 - M yes Algeria - - - - - 1 Frans Cremers
+?/. 4 c.610C>T r.(?) p.(Gln204*) Both (homozygous) - likely pathogenic g.80223039G>A g.79513322G>A - - LCA5_000006 - PubMed: Gerber 2007 - - Germline yes - - - - DNA ? - - LCA5 - PubMed: Gerber et al 2007 - M yes Algeria - - - - - 1 Frans Cremers
+?/. 4 c.610C>T r.(?) p.(Gln204*) Both (homozygous) - likely pathogenic g.80223039G>A g.79513322G>A - - LCA5_000006 - PubMed: Gerber 2007 - - Germline yes - - - - DNA ? - - LCA5 - PubMed: Gerber et al 2007 - M yes Algeria - - - - - 1 Frans Cremers
+?/. 4 c.610C>T r.(?) p.(Gln204*) Both (homozygous) - likely pathogenic g.80223039G>A g.79513322G>A - - LCA5_000006 - PubMed: Gerber 2007 - - Germline yes - - - - DNA ? - - LCA5 - PubMed: Gerber et al 2007 - F yes Algeria - - - - - 1 Frans Cremers
+?/. 4 c.610C>T r.(?) p.(Gln204*) Both (homozygous) - likely pathogenic g.80223039G>A g.79513322G>A - - LCA5_000006 - PubMed: Gerber 2007 - - Germline yes - - - - DNA ? - - LCA5 - PubMed: Gerber et al 2007 - F yes Algeria - - - - - 1 Frans Cremers
+?/. 4 c.633_639del r.(?) p.(Glu211Aspfs*13) Both (homozygous) - likely pathogenic g.80223012_80223018del g.79513295_79513301del - - LCA5_000012 - PubMed: Mackay 2013, Journal: Mackay 2013 - - Germline - - - - - DNA ? - - ? - PubMed: Mackay 2013, Journal: Mackay 2013 - - - - - - - - - 1 Frans Cremers
+?/+? 4 c.633_639del r.(?) p.(Glu211Aspfs*13) Both (homozygous) - likely pathogenic g.80223012_80223018del g.79513295_79513301del - - LCA5_000012 - PubMed: Mackay 2013 - - Unknown ? - - - - DNA ? - - LCA5 - - - - - - Slovakian/Romani - - - - 1 Frans Cremers
+/. - c.633_639del r.(?) p.(Glu211Aspfs*13) Both (homozygous) - pathogenic (recessive) g.80223010_80223016del - 6:80223009GTCTAGCT>G ENST00000392959.1:c.633_639delAGCTAGA (Glu211AspfsTer13) - LCA5_000012 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WES retinal disease B240087 PubMed: Carss 2017 - F - United Kingdom (Great Britain) - - - - - 1 LOVD
?/. - c.633_639del r.(?) p.(Glu211Aspfs*13) Both (homozygous) - VUS g.80223012_80223018del g.79513295_79513301del 633_639delAGCTAGA - LCA5_000012 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 12003872 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+?/. - c.633_639del r.(?) p.(Glu211Aspfs*13) Parent #1 - likely pathogenic g.80223012_80223018del g.79513295_79513301del LCA5, variant 1: c.633_639del/p.E211Dfs*13, variant 2: c.633_639del/p.E211Dfs*13 - LCA5_000012 solved, homozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 401 PubMed: Weisschuh 2020 Filing key number: 130, Leber congenital amaurosis, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.633_639del r.(?) p.(Glu211Aspfs*13) Parent #1 - likely pathogenic g.80223012_80223018del g.79513295_79513301del LCA5, variant 1: c.633_639del/p.E211Dfs*13, variant 2: c.633_639del/p.E211Dfs*13 - LCA5_000012 solved, homozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 402 PubMed: Weisschuh 2020 Filing key number: 130, Leber congenital amaurosis, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.634G>C r.(?) p.(Ala212Pro) Paternal (confirmed) - likely pathogenic g.80223015C>G g.79513298C>G LCA5 c.[634G>C];[1322A>G], p.[Ala212Pro];[Tyr441Cys] - LCA5_000100 heterozygous PubMed: Chen 2016 - - Germline yes - - - - DNA SEQ-NG - - retinal disease - PubMed: Chen 2016 - F yes China - - - - - 1 LOVD
+?/. - c.634G>C r.(?) p.(Ala212Pro) Paternal (confirmed) - likely pathogenic g.80223015C>G g.79513298C>G LCA5 c.[634G>C];[1322A>G], p.[Ala212Pro];[Tyr441Cys] - LCA5_000100 heterozygous PubMed: Chen 2016 - - Germline yes - - - - DNA SEQ-NG - - retinal disease - PubMed: Chen 2016 - F yes China - - - - - 1 LOVD
+?/+? 4 c.634G>T r.(?) p.(Ala212Ser) Parent #1 - likely pathogenic g.80223015C>A g.79513298C>A - - LCA5_000024 - - - - Unknown ? - - - - DNA ? - - LCA5 - - - ? ? - - - - - - 1 Frans Cremers
-/. 4 c.634G>T r.(?) p.(Ala212Ser) Unknown - benign g.80223015C>A - 634G>T - LCA5_000024 - PubMed: li 2011 - - Germline - 1/87 cases; 0/96 controls - - - DNA PCR, SEQ blood - retinal disease - PubMed: li 2011 den Hollander et al., 2004 M no China Chinese - - - - 1 LOVD
+?/. 4 c.643del r.(?) p.(Leu215Tyrfs*11) Both (homozygous) - likely pathogenic g.80223007del g.79513290del - - LCA5_000009 - PubMed: Ahmad 2011 - - Germline yes - - - - DNA ? - - LCA5 - PubMed: Ahmad et al 2011 - F yes Pakistan - - - - - 1 Frans Cremers
+?/. 4 c.643del r.(?) p.(Leu215Tyrfs*11) Both (homozygous) - likely pathogenic g.80223007del g.79513290del - - LCA5_000009 - PubMed: Ahmad 2011 - - Germline yes - - - - DNA ? - - LCA5 - PubMed: Ahmad et al 2011 - F yes Pakistan - - - - - 1 Frans Cremers
+?/. 4 c.643del r.(?) p.(Leu215Tyrfs*11) Both (homozygous) - likely pathogenic g.80223007del g.79513290del - - LCA5_000009 - PubMed: Ahmad 2011 - - Germline yes - - - - DNA ? - - LCA5 - PubMed: Ahmad et al 2011 - F yes Pakistan - - - - - 1 Frans Cremers
+?/. 4 c.643del r.(?) p.(Leu215Tyrfs*11) Both (homozygous) - likely pathogenic g.80223007del g.79513290del - - LCA5_000009 - PubMed: Ahmad 2011 - - Germline yes - - - - DNA ? - - LCA5 - PubMed: Ahmad et al 2011 - M yes Pakistan - - - - - 1 Frans Cremers
+/. 4 c.652C>G r.(?) p.(Arg218Gly) Both (homozygous) - pathogenic g.80222997G>C g.79513280G>C - - LCA5_000042 - PubMed: Li 2017 - - Germline yes - - - - DNA SEQ WBC - RD 61058 PubMed: Li 2017 - F ? Pakistan Pakistani - - - - 1 James Hejtmancik
?/. - c.661T>G r.(?) p.(Leu221Val) Unknown - VUS g.80222988A>C g.79513271A>C NM_001122769.2:c.661T>G - LCA5_000079 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case71749 PubMed: Tiwari 2016 see paper F - Switzerland - - - - - 1 LOVD
?/. 4 c.664G>C r.(?) p.(Ala222Pro) Parent #1 - VUS g.80222985C>G - c.664G>C - LCA5_000108 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
?/. - c.669G>T r.(?) p.(Lys223Asn) Unknown ACMG VUS g.80222980C>A - - - LCA5_000072 ACMG grading: PM2,PP3 - - - Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
+/. 4i c.720+1G>A r.0 p.0 Both (homozygous) - pathogenic g.80222928C>T g.79513211C>T - - LCA5_000039 no mRNA detected PubMed: Corton 2014, Journal: Corton 2014 - - Germline yes - - - - DNA, RNA SEQ, RT-PCR - - LCA - PubMed: Corton 2014, Journal: Corton 2014 - M yes Spain - - - - - 1 Marta Corton
+?/. 4 c.720+1G>A r.(?) p.(?) Both (homozygous) - likely pathogenic g.80222928C>T g.79513211C>T c.720+1G>A, p.? - LCA5_000039 Homozygous PubMed: Tayebi 2019 - - Germline yes - - - - DNA SEQ-NG-I blood 108-gene panel targeted resequencing using MIPs library prep retinal disease 066855 PubMed: Tayebi 2019 - - - Iran - - - - - 1 LOVD
+/. - c.721-2A>G r.spl p.(?) Unknown - pathogenic g.80203469T>C g.79493752T>C c.721-2T>C, p.? - LCA5_000092 error in annotation: c.721-2T>C instead of A>G, compound heterozygous PubMed: Wang 2019 - - Germline yes - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 13740 PubMed: Wang 2019 - F - China - - - - - 1 LOVD
+/. 5 c.763C>T r.(?) p.(Arg255*) Both (homozygous) - pathogenic g.80203425G>A - c.763C>T - LCA5_000087 - PubMed: Eisenberger-2013 - rs151017794 Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - F ? Saudi Arabia - - - - - 1 LOVD
+?/. 5 c.764G>A r.(?) p.(Arg255Gln) Unknown - likely pathogenic g.80203424C>T - c.764G>A - LCA5_000086 - PubMed: Eisenberger-2013 - - Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - F ? Saudi Arabia - - - - - 1 LOVD
+?/. - c.787del r.(?) p.(Arg263Glyfs*23) Unknown - likely pathogenic g.80203404del g.79493687del LCA5 c.828delA, p.Lys131fs - LCA5_000099 obsolete nucleotide annotation, extrapolated from sequence and databases PubMed: Vallespin 2010 - - Unknown ? - - - - DNA ? - - retinal disease ? PubMed: Vallespin 2010 - ? - Spain - - - - - 1 LOVD
+?/. 5 c.795T>G r.(?) p.(Tyr265*) Parent #1 - likely pathogenic g.80203393A>C g.79493676A>C - - LCA5_000019 - PubMed: Mackay 2013, Journal: Mackay 2013 - - Germline - - - - - DNA ? - - LCA5 - PubMed: Mackay 2013, Journal: Mackay 2013 - - - - - - - - - 1 Frans Cremers
+?/+? 5 c.795T>G r.(?) p.(Tyr265*) Parent #1 - likely pathogenic g.80203393A>C g.79493676A>C - - LCA5_000019 - PubMed: Mackay 2013 - - Unknown ? - - - - DNA ? - - LCA5 - - - - - China Chinese - - - - 1 Frans Cremers
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