Full data view for gene KLHL7

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_001031710.2 transcript reference sequence.

113 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.-235G>T r.(=) p.(=) Unknown - VUS g.23145411G>T - c.-235G/T - KLHL7_000035 - PubMed: Friedman 2009 - - Germline - - - - - DNA, RNA SEQ, RT-PCR - - retinal disease - PubMed: Friedman 2009 - - - United States North American - - - - 1 LOVD
?/. 1 c.-235G>T r.(=) p.(=) Unknown - VUS g.23145411G>T - c.-235G/T - KLHL7_000035 - PubMed: Friedman 2009 - - Germline - - - - - DNA, RNA SEQ, RT-PCR - - retinal disease - PubMed: Friedman 2009 - - - United States North American - - - - 1 LOVD
?/. 1 c.-235G>T r.(=) p.(=) Unknown - VUS g.23145411G>T - c.-235G/T - KLHL7_000035 - PubMed: Friedman 2009 - - Germline - - - - - DNA, RNA SEQ, RT-PCR - - retinal disease - PubMed: Friedman 2009 - - - United States North American - - - - 1 LOVD
?/. 1 c.-118G>A r.(=) p.(=) Unknown - VUS g.23145528G>A - c.-118G/A - KLHL7_000036 - PubMed: Friedman 2009 - - Germline - - - - - DNA, RNA SEQ, RT-PCR - - retinal disease - PubMed: Friedman 2009 - - - United States North American - - - - 1 LOVD
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.? - Ala153Val - EZH2_000001 - PubMed: Daiger 2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RFS038 PubMed: Daiger 2014 - - - United States - - - - - 1 LOVD
-?/. - c.21G>A r.(?) p.(Glu7=) Unknown - likely benign g.23145666G>A g.23106047G>A KLHL7(NM_001031710.2):c.21G>A (p.E7=) - KLHL7_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.53A>G r.? p.? Unknown - VUS g.23145698A>G - c.53A/G - KLHL7_000037 - PubMed: Friedman 2009 - rs17147682 Germline - - - - - DNA, RNA SEQ, RT-PCR - - retinal disease - PubMed: Friedman 2009 - - - United States North American - - - - 1 LOVD
?/. 1 c.53A>G r.? p.? Unknown - VUS g.23145698A>G - c.53A/G - KLHL7_000037 - PubMed: Friedman 2009 - - Germline - - - - - DNA, RNA SEQ, RT-PCR - - retinal disease - PubMed: Friedman 2009 - - - United States North American - - - - 1 LOVD
?/. 1 c.53A>G r.? p.? Unknown - VUS g.23145698A>G - c.53A/G - KLHL7_000037 - PubMed: Friedman 2009 - - Germline - - - - - DNA, RNA SEQ, RT-PCR - - retinal disease - PubMed: Friedman 2009 - - - United States North American - - - - 2 LOVD
?/. 1 c.53A>G r.? p.? Unknown - VUS g.23145698A>G - c.53A/G - KLHL7_000037 - PubMed: Friedman 2009 - - Germline - - - - - DNA, RNA SEQ, RT-PCR - - retinal disease - PubMed: Friedman 2009 - - - United States North American - - - - 1 LOVD
+?/. 1 c.112C>T r.(?) p.(Arg38Trp) Unknown - likely pathogenic (recessive) g.23145757C>T - c.112C>T - KLHL7_000030 - PubMed: Colombo-2020 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
?/. - c.120+3A>G r.spl? p.? Unknown - VUS g.23145768A>G - KLHL7(NM_001031710.3):c.120+3A>G - KLHL7_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.126G>A r.(?) p.(Thr42=) Unknown - likely benign g.23163401G>A g.23123782G>A KLHL7(NM_001031710.2):c.126G>A (p.T42=) - KLHL7_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.181_183del r.? p.? Both (homozygous) - likely pathogenic g.23163456_23163458delTGT - c.181_183delTGT - KLHL7_000038 - PubMed: Kanthi-2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Kanthi-2019 - M yes - - - - - - 1 LOVD
+/. 3 c.247del r.(?) p.(Phe83Leufs*3) Both (homozygous) - pathogenic g.23164330del - c.247del; p.(Phe83Leufs*3) - KLHL7_000039 - PubMed: Cheraghi-2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease Patient II:1 PubMed: Cheraghi-2020 - F no Iran Iranian - - - - 1 LOVD
+/. 3 c.247del r.(?) p.(Phe83Leufs*3) Both (homozygous) - pathogenic g.23164330del - c.247del; p.(Phe83Leufs*3) - KLHL7_000039 - PubMed: Cheraghi-2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease Patient II:2 PubMed: Cheraghi-2020 - F no Iran Iranian - - - - 1 LOVD
-/. - c.317+126C>G r.(=) p.(=) Unknown - benign g.23164526C>G g.23124907C>G KLHL7(NM_018846.5):c.173+126C>G - KLHL7_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.352C>T r.(=) p.(=) Unknown - VUS g.23164701C>T - c.352C/T - KLHL7_000040 - PubMed: Friedman 2009 - rs15775 Germline - - - - - DNA, RNA SEQ, RT-PCR - - retinal disease - PubMed: Friedman 2009 - - - United Kingdom (Great Britain);United States - - - - - 1 LOVD
-/. - c.352C>T r.(?) p.(=) Unknown - benign g.23164701C>T - - - KLHL7_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.422T>C r.(?) p.(Val141Ala) Unknown - pathogenic (dominant) g.23164771T>C - 7:23164771T>C ENST00000339077.5:c.422T>C (Val141Ala) - KLHL7_000021 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G001365 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Asia-South - - - - 1 LOVD
+?/. - c.422T>C r.(?) p.(Val141Ala) Unknown - likely pathogenic g.23164771T>C g.23125152T>C KLHL7 c.422T>C, p.Val141Ala - KLHL7_000021 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G001365 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. 4 c.422T>C r.(?) p.(Val141Ala) Unknown - likely pathogenic g.23164771T>C - c.422T>C - KLHL7_000021 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+?/. - c.422T>C r.(?) p.(Val141Ala) Unknown - likely pathogenic g.23164771T>C - - - KLHL7_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.433A>G r.(?) p.(Asn145Asp) Unknown - pathogenic (dominant) g.23164782A>G - 7:23164782A>G ENST00000339077.5:c.433A>G (Asn145Asp) - KLHL7_000022 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G005238 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.433A>G r.(?) p.(Asn145Asp) Unknown - pathogenic (dominant) g.23164782A>G - 7:23164782A>G ENST00000339077.5:c.433A>G (Asn145Asp) - KLHL7_000022 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease W000372 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.433A>G r.(?) p.(Asn145Asp) Unknown ACMG VUS g.23164782A>G - - - KLHL7_000022 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - RP IR_GS_0039 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.433A>G r.(?) p.(Asn145Asp) Unknown - likely pathogenic g.23164782A>G g.23125163A>G KLHL7 c.433A>G, p.N145D - KLHL7_000022 heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 3 PubMed: Jauregui 2020 - F - (United States) Asian - - - - 1 LOVD
+?/. - c.433A>G r.(?) p.(Asn145Asp) Parent #1 - likely pathogenic g.23164782A>G g.23125163A>G KLHL7, variant 1: c.433A>G/p.N145D - KLHL7_000022 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET6 targeted sequencing panel - see paper retinal disease 890 PubMed: Weisschuh 2020 Filing key number: 372, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.433A>G r.(?) p.(Asn145Asp) Unknown - likely pathogenic g.23164782A>G g.23125163A>G KLHL7 c.433A>G, p.Asn145Asp - KLHL7_000022 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G005238 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.433A>G r.(?) p.(Asn145Asp) Unknown - likely pathogenic g.23164782A>G g.23125163A>G KLHL7 c.433A>G, p.Asn145Asp - KLHL7_000022 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease W000372 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+?/. - c.433A>G r.(?) p.(Asn145Asp) Unknown - likely pathogenic g.23164782A>G - - - KLHL7_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.433A>G r.(?) p.(Asn145Asp) Unknown - pathogenic g.23164782A>G - c.433A>G:p.(Asn145Asp) - KLHL7_000022 - PubMed: Oh 2019 - - Unknown - - - - - DNA SEQ, SEQ-NG - - retinal disease P3 PubMed: Oh 2019 - F - - Korean - - - - 1 LOVD
+?/. - c.433A>G r.(?) p.(Asn145Asp) Parent #1 - likely pathogenic g.23164782A>G g.23125163A>G - - KLHL7_000022 - PubMed: Midgley 2024 - rs1182983579 Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat68 PubMed: Midgley 2024 - M - South Africa Africa-indigenous - - - - 1 Johan den Dunnen
+?/. - c.433A>T r.(?) p.(Asn145Tyr) Unknown - likely pathogenic g.23164782A>T g.23125163A>T KLHL7 c.433A>T, p.N145Y - KLHL7_000027 heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 2 PubMed: Jauregui 2020 - F - (United States) white - - - - 1 LOVD
+/. 4 c.433A>T r.(?) p.(Asn145Tyr) Unknown - pathogenic g.23164782A>T - c.433A>T:p.(Asn145Tyr)* - KLHL7_000027 - PubMed: Oh 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - - retinal disease P5 PubMed: Oh 2019 - F - - Irish - - - - 1 LOVD
+?/. - c.440T>A r.(?) p.(Leu147His) Unknown - likely pathogenic g.23164789T>A - - - KLHL7_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.449G>A r.(?) p.(Ser150Asn) Parent #1 - likely pathogenic g.23180394G>A - - - KLHL7_000020 - PubMed: Holtan 2020 - - Germline - 2/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 2 patients with variant in heterozygous or compound heterozygous form - - Norway - - - - - 2 Global Variome, with Curator vacancy
+?/. - c.449G>A r.(?) p.(Ser150Asn) Unknown ACMG VUS g.23180394G>A - - - KLHL7_000020 - - - - Germline - - - - - DNA SEQ-NG-I - - RP IR_GH_0034 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. 5 c.449G>A r.(?) p.(Ser150Asn) Unknown - likely pathogenic g.23180394G>A - c.449G/A, p.S150N - KLHL7_000020 0/102 Scandinavian controls, 0/183 North American controls and 0/185 UK controls PubMed: Friedman 2009 - - Germline yes - - - - DNA, RNA SEQ, RT-PCR - - retinal disease - PubMed: Friedman 2009 - - - - Scandinavian - - - - 23 LOVD
+?/. 5 c.449G>A r.(?) p.(Ser150Asn) Unknown - likely pathogenic g.23180394G>A - c.449G/A, p.S150N - KLHL7_000020 0/102 Scandinavian controls, 0/183 North American controls and 0/185 UK controls PubMed: Friedman 2009 - - Germline yes - - - - DNA, RNA SEQ, RT-PCR - - retinal disease - PubMed: Friedman 2009 - - - - North American - - - - 2 LOVD
+?/. 5 c.457G>A r.(?) p.(Ala153Thr) Unknown - likely pathogenic g.23180402G>A - c.457G>A - KLHL7_000026 - PubMed: Sullivan-2013 - - Unknown - - - - - DNA SEQ, PCR blood - retinal disease - PubMed: Sullivan-2013 - - no - - - - - - 1 LOVD
+?/. 5 c.457G>A r.(?) p.(Ala153Thr) Unknown - likely pathogenic g.23180402G>A - c.457G/A, p.A153T - KLHL7_000026 - PubMed: Friedman 2009 - - Germline - - - - - DNA, RNA SEQ, RT-PCR - - retinal disease - PubMed: Friedman 2009 - - - - North American - - - - 1 LOVD
+/. - c.458C>T r.(?) p.(Ala153Val) Parent #1 - pathogenic g.23180403C>T g.23140784C>T - - KLHL7_000019 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs137853113 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.458C>T r.(?) p.(Ala153Val) Unknown ACMG likely pathogenic g.23180403C>T - NM_001031710 - KLHL7_000019 - 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.458C>T r.(?) p.(Ala153Val) Unknown - likely pathogenic g.23180403C>T g.23140784C>T - - KLHL7_000019 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 38 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. 5 c.458C>T r.(?) p.(Ala153Val) Unknown - likely pathogenic (dominant) g.23180403C>T g.23140784C>T - - KLHL7_000019 - PubMed: Yoon 2015 - rs137853113 Germline - - - - - DNA SEQ-NG - 53-gene panel retinal disease F10 PubMed: Yoon 2015 family - - Korea - - - - - 1 LOVD
+/. - c.458C>T r.(?) p.(Ala153Val) Parent #1 - pathogenic (dominant) g.23180403C>T g.23140784C>T - - KLHL7_000019 - PubMed: Daiger 2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease VCH010 PubMed: Daiger 2014 - - - United States - - - - - 1 LOVD
+/. 5 c.458C>T r.(?) p.(Ala153Val) Unknown - pathogenic g.23180403C>T - c.458C>T - KLHL7_000019 - PubMed: Bowne 2011 - - Germline - - - - - DNA SEQ, SEQ-NG-S Lymphoblast - retinal disease - PubMed: Bowne 2011 - - no - white - - - - 1 LOVD
+/. 5 c.458C>T r.(?) p.(Ala153Val) Unknown - pathogenic (dominant) g.23180403C>T - c.458C>T - KLHL7_000019 - PubMed: Colombo-2020 - rs137853113 Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
+?/. 5 c.458C>T r.(?) p.(Ala153Val) Unknown - likely pathogenic g.23180403C>T - c.458C/T, p.A153V - KLHL7_000019 - PubMed: Hugosson-2010, PubMed: Friedman 2009 - - Germline - - - - - DNA, RNA SEQ, RT-PCR - - retinal disease - PubMed: Hugosson-2010, PubMed: Friedman 2009 - - - - Scandinavian - - - - 11 LOVD
+?/. 5 c.458C>T r.(?) p.(Ala153Val) Unknown - likely pathogenic g.23180403C>T - c.458C/T, p.A153V - KLHL7_000019 - PubMed: Friedman 2009 - - Germline - - - - - DNA, RNA SEQ, RT-PCR - - retinal disease - PubMed: Friedman 2009 - - - - UK - - - - 1 LOVD
+?/. 5 c.458C>T r.(?) p.(Ala153Val) Unknown - likely pathogenic g.23180403C>T - c.458C/T, p.A153V - KLHL7_000019 - PubMed: Friedman 2009 - - Germline - - - - - DNA, RNA SEQ, RT-PCR - - retinal disease - PubMed: Friedman 2009 - - - - North American - - - - 3 LOVD
+/. 5 c.458C>T r.(?) p.(Ala153Val) Unknown - pathogenic g.23180403C>T - c.458C>T:p.(Ala153Val) - KLHL7_000019 - PubMed: Oh 2019 - - Unknown - - - - - DNA SEQ, SEQ-NG - - retinal disease P2 PubMed: Oh 2019 - F - - Irish - - - - 1 LOVD
+/. 5 c.458C>T r.(?) p.(Ala153Val) Unknown - pathogenic g.23180403C>T - c.458C>T - KLHL7_000019 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. 5 c.458C>T r.(?) p.(Ala153Val) Unknown - pathogenic g.23180403C>T - c.458C>T - KLHL7_000019 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. 5 c.458C>T r.(?) p.(Ala153Val) Unknown - pathogenic g.23180403C>T - c.458C>T - KLHL7_000019 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. - c.458C>T r.(?) p.(Ala153Val) Unknown ACMG pathogenic (dominant) g.23180403C>T g.23140784C>T - - KLHL7_000019 ACMG PP3, PM2, PM5_SUPPORTING, PM1, PP2, PP5_STRONG PubMed: Weisschuh 2024 1009 - Germline - - - - - DNA SEQ-NG - WGS ? ADRP--518-1 PubMed: Weisschuh 2024 family, 2 affected F - Germany - - - - - 2 Johan den Dunnen
+/. - c.458C>T r.(?) p.(Ala153Val) Unknown ACMG pathogenic (dominant) g.23180403C>T g.23140784C>T - - KLHL7_000019 ACMG PP3, PM2, PM5_SUPPORTING, PM1, PP2, PP5_STRONG PubMed: Weisschuh 2024 1009 - Germline - - - - - DNA SEQ-NG - WGS ? ADRP--518-2 PubMed: Weisschuh 2024 relative M - Germany - - - - - 1 Johan den Dunnen
-/. - c.459G>A r.(?) p.(Ala153=) Unknown - benign g.23180404G>A g.23140785G>A KLHL7(NM_018846.5):c.315G>A (p.A105=) - KLHL7_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.472T>C r.(?) p.(Cys158Arg) Unknown - VUS g.23180417T>C g.23140798T>C KLHL7 c.472T>C, p.Cys158Arg - KLHL7_000028 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 001-427 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.472T>C r.(?) p.(Cys158Arg) Unknown - likely pathogenic g.23180417T>C g.23140798T>C KLHL7 c.472T>C, p.C158R - KLHL7_000028 heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 4 PubMed: Jauregui 2020 - M - (United States) Other - - - - 1 LOVD
+/. 5 c.472T>C r.(?) p.(Cys158Arg) Unknown - pathogenic g.23180417T>C - c.472T>C:p.(Cys158Arg)* - KLHL7_000028 - PubMed: Oh 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Kanthi-2019 - M yes - - - - - - 1 LOVD
+/. 5 c.472T>C r.(?) p.(Cys158Arg) Unknown - pathogenic g.23180417T>C - c.472T>C:p.(Cys158Arg)* - KLHL7_000028 - PubMed: Oh 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease P4 PubMed: Oh 2019 - F - - Caucasian(unspecified) - - - - 1 LOVD
+?/. 5 c.474+1G>A r.spl? p.? Both (homozygous) - likely pathogenic g.23180420G>A - NM_018846.4:c.474+1G>A - KLHL7_000041 - PubMed: Bruel 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Bruel 2017 - F no Syria - - - - - 1 LOVD
+?/. 5 c.474+1G>A r.spl? p.? Both (homozygous) - likely pathogenic g.23180420G>A - NM_018846.4:c.474+1G>A - KLHL7_000041 - PubMed: Bruel 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Bruel 2017 - M no Syria - - - - - 1 LOVD
+?/. - c.506T>A r.(?) p.(Ile169Asn) Unknown - likely pathogenic g.23180451T>A g.23140832T>A - - KLHL7_000023 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 295 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
-?/. - c.513G>A r.(?) p.(Gln171=) Unknown - likely benign g.23180458G>A g.23140839G>A KLHL7(NM_018846.4):c.369G>A (p.Q123=), KLHL7(NM_018846.5):c.369G>A (p.Q123=) - KLHL7_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.513G>A r.(?) p.(Gln171=) Unknown - likely benign g.23180458G>A - KLHL7(NM_018846.4):c.369G>A (p.Q123=), KLHL7(NM_018846.5):c.369G>A (p.Q123=) - KLHL7_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.513G>A r.(=) p.(=) Unknown - VUS g.23180458G>A - c.513G/A - KLHL7_000015 - PubMed: Friedman 2009 - - Germline - - - - - DNA, RNA SEQ, RT-PCR - - retinal disease - PubMed: Friedman 2009 - - - United States North American - - - - 1 LOVD
+?/. - c.514C>G r.(?) p.(His172Asp) Unknown - likely pathogenic g.23180459C>G g.23140840C>G - - KLHL7_000024 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 39 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.598_601del r.(?) p.(Thr200*) Parent #1 - likely pathogenic g.23180543_23180546del g.23140924_23140927del KLHL7, variant 1: c.598_601del/p.T200* - KLHL7_000029 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 457 PubMed: Weisschuh 2020 Filing key number: 148, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. 5 c.614A>G r.(?) p.(Asp205Gly) Unknown - likely pathogenic (recessive) g.23180559A>G - c.614A>G - KLHL7_000031 - PubMed: Colombo-2020 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
+?/. - c.618+1G>A r.spl? p.? Both (homozygous) - likely pathogenic (recessive) g.23180564G>A g.23140945G>A NM_018846.4:c.474+1G>A - KLHL7_000055 - PubMed: Nambot 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? PED1065.1 PubMed: Nambot 2018 - - - France - - - - - 1 Johan den Dunnen
-?/. - c.618+19C>T r.(=) p.(=) Unknown - likely benign g.23180582C>T - KLHL7(NM_001031710.3):c.618+19C>T - KLHL7_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.665G>A r.(?) p.(Arg222His) Unknown - VUS g.23183516G>A - KLHL7(NM_001031710.2):c.665G>A (p.(Arg222His)) - KLHL7_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.738G>A r.(?) p.(Thr246=) Unknown - likely benign g.23183589G>A g.23143970G>A KLHL7(NM_018846.4):c.594G>A (p.T198=) - KLHL7_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 6 c.763G>A r.(?) p.(Asp255Asn) Unknown - VUS g.23183614G>A - c.763G/A - KLHL7_000042 - PubMed: Friedman 2009 - - Germline - - - - - DNA, RNA SEQ, RT-PCR - - retinal disease - PubMed: Friedman 2009 - - - United States North American - - - - 1 LOVD
./. - c.793+4006_*9718117del r.? p.? Unknown - pathogenic g.23187650_32932034del - - - ADCYAP1R1_000001 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
?/. - c.797G>A r.(?) p.(Gly266Glu) Maternal (confirmed) ACMG VUS g.23191689G>A g.23152070G>A - - KLHL7_000057 ACMG PM2, PP2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-391 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
?/. 7 c.816G>A r.(=) p.(=) Unknown - VUS g.23191708G>A - c.816G/A - KLHL7_000043 - PubMed: Friedman 2009 - - Germline - - - - - DNA, RNA SEQ, RT-PCR - - retinal disease - PubMed: Friedman 2009 - - - United States North American - - - - 1 LOVD
+?/. 7 c.935_936+19del r.? p.? Both (homozygous) - likely pathogenic g.23191827_23191847del - c.935_936+19 del - KLHL7_000044 - PubMed: Bruel 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Bruel 2017 - M yes United Kingdom (Great Britain) - - - - - 1 LOVD
-?/. - c.936+5C>A r.spl? p.? Unknown - likely benign g.23191833C>A g.23152214C>A KLHL7(NM_001031710.2):c.936+5C>A (p.?) - KLHL7_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.969del r.(?) p.(Phe323LeufsTer15) Unknown ACMG likely pathogenic (dominant) g.23205349del g.23165730del - - KLHL7_000058 ACMG PM2, PVS1 PubMed: Weisschuh 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WGS ? MDS-418 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
?/. - c.1006A>C r.(?) p.(Asn336His) Unknown - VUS g.23205386A>C - - - KLHL7_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1007A>T r.(?) p.(Asn336Ile) Unknown - likely benign g.23205387A>T - KLHL7(NM_001031710.2):c.1007A>T (p.(Asn336Ile)) - KLHL7_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.1022del r.(?) p.(Leu341Trpfs*9) Both (homozygous) - pathogenic g.23205402del g.23165783del - - KLHL7_000001 - PubMed: Angius 2016, Journal: Angius 2016 - - Germline - - - - - DNA SEQ - - CISS 27392078-FamPatCS_258 PubMed: Angius 2016, Journal: Angius 2016 2-generation family, unaffected heterozygous carrier parents F yes Turkey Turkish >06y - - - 1 Jamie Zeegers
+/. 8 c.1022del r.(?) p.(Leu341Trpfs*9) Both (homozygous) - pathogenic g.23205402del g.23165783del - - KLHL7_000001 - PubMed: Angius 2016, Journal: Angius 2016 - - Germline - - - - - DNA SEQ - - CISS 27392078-PanPatCS_259 PubMed: Angius 2016, Journal: Angius 2016 2-generation family, unaffected heterozygous carrier parents F yes Turkey Turkish 02y - - - 1 Jamie Zeegers
+?/. 8 c.1051C>T r.(?) p.(Arg351*) Both (homozygous) - likely pathogenic g.23205431C>T - NM_018846.4:p.Arg351* - KLHL7_000045 - PubMed: Bruel 2017, PubMed: Heng 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Bruel 2017, PubMed: Heng 2019 - M no United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. 8 c.1051C>T r.(?) p.(Arg351*) Both (homozygous) - likely pathogenic g.23205431C>T - NM_018846.4:p.Arg351* - KLHL7_000045 - PubMed: Bruel 2017, PubMed: Heng 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Bruel 2017, PubMed: Heng 2019 - F no United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. 8 c.1115G>A r.(?) p.(Arg372Gln) Both (homozygous) - likely pathogenic g.23205495G>A g.23165876G>A - - KLHL7_000002 - PubMed: Angius 2016, Journal: Angius 2016 - - Germline - - - - - DNA SEQ - - CISS 27392078-FamPatCS_169 PubMed: Angius 2016, Journal: Angius 2016 2-generation family, unaffected heterozygous carrier parents M yes Turkey Turkish 00y07m - - - 1 Jamie Zeegers
+?/. 8 c.1147A>T r.(?) p.(Lys383*) Both (homozygous) - likely pathogenic g.23205527A>T - NM_018846.4:p.Lys383* - KLHL7_000046 - PubMed: Bruel 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Bruel 2017 - M no Italy - - - - - 1 LOVD
?/. 8i c.1177+77C>T r.(=) p.(=) Unknown - VUS g.23205634C>T - c.1177+77C/T - KLHL7_000047 - PubMed: Friedman 2009 - rs858312 Germline - - - - - DNA, RNA SEQ, RT-PCR - - retinal disease - PubMed: Friedman 2009 - - - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. 9 c.1258C>T r.(?) p.(Arg420Cys) Both (homozygous) - likely pathogenic g.23207535C>T g.23167916C>T - - KLHL7_000003 - PubMed: Angius 2016, Journal: Angius 2016 - - Germline - - - - - DNA SEQ - - CISS 27392078-FamGPatCS_260 PubMed: Angius 2016, Journal: Angius 2016 2-generation family, unaffected heterozygous carrier parents M yes Turkey Turkish >04y - - - 1 Jamie Zeegers
+?/. 9 c.1261T>A r.(?) p.(Cys421Ser) Both (homozygous) - likely pathogenic g.23207538T>A g.23167919T>A - - KLHL7_000004 - PubMed: Angius 2016, Journal: Angius 2016 - - Germline - - - - - DNA SEQ - - CISS 27392078-FamPatCS_144 PubMed: Angius 2016, Journal: Angius 2016 2-generation family, unaffected heterozygous carrier parents F yes Turkey Turkish 00y21m - - - 1 Jamie Zeegers
-/. 9 c.1267C>T r.(?) p.(His423Tyr) Unknown - benign g.23207544C>T - c.1267C/T - KLHL7_000048 - PubMed: Friedman 2009 - - Germline no - - - - DNA, RNA SEQ, RT-PCR - - retinal disease - PubMed: Friedman 2009 - - - United States North American - - - - 1 LOVD
?/. - c.1272G>T r.(?) p.(Gly424=) Unknown - VUS g.23207549G>T - - - KLHL7_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 9 c.1353T>C r.(=) p.(=) Unknown - VUS g.23207630T>C - c.1353T/C - KLHL7_000049 - PubMed: Friedman 2009 - - Germline - - - - - DNA, RNA SEQ, RT-PCR - - retinal disease - PubMed: Friedman 2009 - - - United States North American - - - - 1 LOVD
-?/. - c.1374A>G r.(?) p.(Thr458=) Unknown - likely benign g.23207651A>G g.23168032A>G KLHL7(NM_018846.4):c.1230A>G (p.T410=) - KLHL7_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1378A>G r.(?) p.(Thr460Ala) Unknown - VUS g.23207655A>G g.23168036A>G - - KLHL7_000013 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs761755398 Germline - 6/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 6 Yoshito Koyanagi
?/. 9i c.1380-12T>G r.(=) p.(=) Unknown - VUS g.23212555T>G - c.1380-12T/G - KLHL7_000050 - PubMed: Friedman 2009 - - Germline - - - - - DNA, RNA SEQ, RT-PCR - - retinal disease - PubMed: Friedman 2009 - - - United States North American - - - - 1 LOVD
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