Unique variants in the IQCB1 gene

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_001023570.2 transcript reference sequence.

102 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-/. 1 - c.-193T>C r.(?) p.(=) - benign g.121553904A>G g.121835057A>G - - IQCB1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.-102+5C>A r.spl? p.? - VUS g.121553808G>T g.121834961G>T IQCB1(NM_001023570.3):c.-102+5C>A - EAF2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 8 - c.? r.(?), r.? p.(Ala509_Glu529del), p.(Ala547Lys), p.(Ala549Lys), p.(Arg543_Thr555del), p.(Asn340_Leu371del), p.? - pathogenic, pathogenic (recessive) g.? g.? 659delG, NPHP5 A547K, NPHP5 A549K, NPHP5 del340-371, NPHP5 del509-529, NPHP5 del543-555, p.Arg489*, 1 more item - OPA1_000149 NPHP5 is an intrinsic component of centrosomes - distal end near the base of the cilium PubMed: Barbelanne 2013, PubMed: Carrigan 2016, PubMed: Consugar 2015 - - Germline, In vitro (cloned) ?, yes - - - - LOVD
-?/. 1 - c.162T>C r.(?) p.(Tyr54=) - likely benign g.121547418A>G g.121828571A>G IQCB1(NM_001023570.3):c.162T>C (p.Y54=) - IQCB1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/. 6 - c.214C>T r.(?) p.(Arg72*) ACMG likely pathogenic, pathogenic, pathogenic (recessive) g.121547366G>A g.121828519G>A 3:121547366G>A ENST00000310864.6:c.214C>T (Arg72Ter), IQCB1 c.214C>T, p.Arg72Ter, 3 more items - IQCB1_000064 heterozygous, VKGL data sharing initiative Nederland PubMed: Carss 2017, PubMed: Jespersgaar 2019, PubMed: Sallum 2020, PubMed: Stone 2017, 1 more item - - CLASSIFICATION record, Germline, Germline/De novo (untested), Unknown ? - - - - VKGL-NL_Rotterdam
+/., +?/. 2 - c.260T>G r.(?) p.(Leu87*) - likely pathogenic, pathogenic (recessive) g.121547320A>C g.121828473A>C 3:121547320A>C ENST00000310864.6:c.260T>G (Leu87Ter), IQCB1 c.260T>G, p.Leu87Ter - IQCB1_000063 heterozygous PubMed: Carss 2017, PubMed: Turro 2020 - - Germline, Germline/De novo (untested) ? - - - - LOVD
+/. 1 - c.273dup r.(?) p.(Val92CysfsTer15) - pathogenic g.121545018dup g.121826171dup - - IQCB1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 2 - c.333delT r.(?) p.(Ala112Glnfs*5) - likely pathogenic g.121544958del g.121826111del IQCB1 c.333delT, Ala111del1gcT, IQCB1 c.333delT, p.A111del1gcT - IQCB1_000098 error in annotation: p.(Ala112Glnfs*5) and not Ala111del1gcT; heterozygous PubMed: Cideciyan 2011, PubMed: Stone 2011 - - Germline yes - - - - LOVD
-?/. 1 - c.388G>A r.(?) p.(Ala130Thr) - likely benign g.121544903C>T g.121826056C>T IQCB1(NM_001023570.3):c.388G>A (p.A130T) - IQCB1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.393+15A>G r.(=) p.(=) - benign g.121544883T>C g.121826036T>C IQCB1(NM_001023570.4):c.393+15A>G - IQCB1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 2 - c.394-1G>A r.(?), r.spl p.(?), p.? ACMG pathogenic, pathogenic (recessive) g.121527857C>T g.121809010C>T IQCB1 c.394-1G>A; p.? - IQCB1_000074 homozygous PubMed: Porto 2017, PubMed: Sallum 2020 - - Germline, Unknown ? - - - - LOVD
-/. 1 - c.424T>C r.(?) p.(Phe142Leu) - benign g.121527826A>G g.121808979A>G IQCB1(NM_001023570.4):c.424T>C (p.F142L) - IQCB1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/., +?/. 17 6 c.424_425del r.(?) p.(Phe142fs*146), p.(Phe142Profs*5), p.(Phe142ProfsTer5) - likely pathogenic, likely pathogenic (recessive), pathogenic, pathogenic (recessive) g.121527825_121527826del, g.121527828_121527829del g.121808978_121808979del, g.121808981_121808982del 3:121527824GAA>G ENST00000310864.6:c.424_425delTT (Phe142ProfsTer5), 421_422delTT, c.424_425delTT, 5 more items - IQCB1_000040 error in annotation: p.(Phe142Profs*5) and not Phe141del2cacTT; heterozygous, heterozygous, homozygous, 2 more items PubMed: Barbelanne 2013, PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019, 9 more items - - Germline, Germline/De novo (untested), In vitro (cloned), Unknown ?, yes 1/899 cases - - - Global Variome, with Curator vacancy, IMGAG
+?/. 6 - c.424_425delTT r.(?) p.(Phe142Profs*5), p.(Phe142ProfsTer5) - likely pathogenic g.121527828_121527829del g.121808981_121808982del IQCB1 (KIAA0036) 424–425delTT, F142fsX1, NPHP5 c.424_425delTT, p.F142fsX146 - IQCB1_000040 homozygous PubMed: Otto 2005, PubMed: Otto 2008 - - Germline, Unknown ?, yes 0/155 - - - LOVD
+/. 1 - c.445_448del r.(?) p.(Leu149Serfs*31) - pathogenic g.121527805_121527808del g.121808958_121808961del IQCB1 c.445_448delCTCT, p.L149Sfs*30 - IQCB1_000091 homozygous PubMed: Shen 2021 - - Germline yes - - - - LOVD
+?/. 2 - c.445_448delCTCT r.(?) p.(Leu149Serfs*31) - likely pathogenic g.121527805_121527808del g.121808958_121808961del IQCB1 (KIAA0036) 445–448delCTCT, L149fsX1 - IQCB1_000091 heterozygous, homozygous PubMed: Otto 2005 - - Germline, Unknown ?, yes 0/155 - - - LOVD
+?/. 1 - c.479_482del r.(?) p.(Ile160Argfs*20) - likely pathogenic (recessive) g.121527769_121527772del g.121808922_121808925del - - IQCB1_000072 - PubMed: DiIorio 2017 - - Germline - - - - - LOVD
-?/. 1 - c.482A>G r.(?) p.(Gln161Arg) - likely benign g.121527768T>C g.121808921T>C IQCB1(NM_001023570.3):c.482A>G (p.Q161R) - IQCB1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 2 - c.488-1G>A r.spl p.(?) - likely pathogenic g.121526291C>T g.121807444C>T IQCB1;NM_001023570.2;c.[488-1G>A];[488-1G>A], NPHP5 c.488 -1G>A, Splice site - IQCB1_000084 homozygous PubMed: Jiman 2020, PubMed: Otto 2008 - - Germline, Unknown ?, yes - - - - LOVD
+?/. 1 - c.493C>T r.(?) p.(Gln165*) - likely pathogenic g.121526285G>A g.121807438G>A - - IQCB1_000076 - PubMed: Stone 2017 - - Germline - - - - - LOVD
-/. 2 - c.574C>T r.(?) p.(Leu192=) - benign g.121526204G>A g.121807357G>A IQCB1(NM_001023570.3):c.574C>T (p.L192=) - IQCB1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-/. 1 - c.587+38del r.(=) p.(=) - benign g.121526161del g.121807314del IQCB1(NM_001023570.4):c.587+38delT - IQCB1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.588-16del r.(=) p.(=) - benign g.121518246del g.121799399del IQCB1(NM_001023570.4):c.588-16delT - IQCB1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/., -?/. 4 - c.588T>C r.(?) p.(Ser196=) - benign, likely benign g.121518221A>G g.121799374A>G 1 more item - IQCB1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
?/. 1 - c.658T>A r.(?) p.(Ser220Thr) ACMG VUS g.121518151A>T g.121799304A>T IQCB1:NM_001023570 c.T658A, p.S220T - IQCB1_000086 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - LOVD
+/. 1 8 c.658_659delinsG r.(?) p.(Ser220Glufs*7) - pathogenic (recessive) g.121518150_121518151delinsC - c.658_659delinsG - IQCB1_000090 - PubMed: Colombo-2020 - - Germline yes - - - - LOVD
+?/. 1 8 c.686del r.(?) p.(Thr229Metfs*8) - likely pathogenic (recessive) g.121518123del g.121799276del - - IQCB1_000060 - PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - Germline - - - - - Global Variome, with Curator vacancy
+/. 1 - c.700_701del r.(?) p.(Leu234ThrfsTer5) - pathogenic g.121518108_121518109del g.121799261_121799262del - - IQCB1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.708G>C r.(?) p.(Leu236Phe) ACMG VUS g.121518101C>G g.121799254C>G IQCB1:NM_001023570 c.G708C, p.L236F - IQCB1_000085 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - LOVD
-/. 1 - c.767-263_767-262del r.(=) p.(=) - benign g.121516349_121516350del g.121797502_121797503del IQCB1(NM_001023570.4):c.767-263_767-262delTT - IQCB1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.767-262del r.(=) p.(=) - benign g.121516350del g.121797503del IQCB1(NM_001023570.4):c.767-262delT - IQCB1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.767-260_767-259del r.(=) p.(=) - benign g.121516333_121516334del g.121797486_121797487del IQCB1(NM_001023570.4):c.767-260_767-259delTT - IQCB1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.767-227_767-226del r.(=) p.(=) - benign g.121516311_121516312del g.121797464_121797465del IQCB1(NM_001023570.4):c.767-227_767-226delTT - IQCB1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.772del r.(?) p.(Arg258Aspfs*4) - VUS g.121516069del g.121797222del 772delA - IQCB1_000071 - PubMed: Bryant 2018 - - Germline - - - - - LOVD
?/. 1 - c.775C>T r.(?) p.(Arg259Cys) - VUS g.121516066G>A g.121797219G>A IQCB1(NM_001023570.4):c.775C>T (p.R259C) - IQCB1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.776G>A r.(?) p.(Arg259His) - likely benign g.121516065C>T - IQCB1(NM_001023570.3):c.776G>A (p.R259H) - IQCB1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.782T>G r.(?) p.(Leu261Arg) - likely benign g.121516059A>C g.121797212A>C IQCB1(NM_001023570.4):c.782T>G (p.L261R) - IQCB1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
+?/. 1 - c.812del r.(?) p.(Ser271Ilefs*11) - likely pathogenic g.121516029del g.121797182del IQCB1, variant 1: c.424_425del/p.F142Pfs*5, variant 2: c.812del/p.S271Ifs*11 - IQCB1_000089 solved, compound heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - LOVD
+?/. 1 - c.814C>T r.(?) p.(Gln272*) - likely pathogenic g.121516027G>A g.121797180G>A IQCB1 c.814C>T, p.Gln272Ter - IQCB1_000088 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - LOVD
+/. 1 - c.817G>T r.(?) p.(Glu273*) - pathogenic g.121516024C>A g.121797177C>A - - IQCB1_000058 18 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs794727964 Germline - 18/2781 individuals - - - Mohammed Faruq
+?/. 3 - c.825_828del r.(?) p.(Arg275Serfs*6) - likely pathogenic g.121516015_121516018del g.121797168_121797171del IQCB1 c.825_828del, p.R275SfsX6, 1 more item - IQCB1_000087 heterozygous, solved, compound heterozygous PubMed: Estrada-Cuzcano 2011, PubMed: Weisschuh 2020 - - Germline, Unknown ?, yes - - - - LOVD
+?/. 2 - c.825_828delACAG r.(?) p.(Arg275Serfs*6) - likely pathogenic g.121516015_121516018del g.121797168_121797171del IQCB1 (KIAA0036) 825–828delACAG, R275fsX2 - IQCB1_000087 heterozygous PubMed: Otto 2005 - - Unknown ? 0/155 - - - LOVD
+/. 1 - c.876+1G>A r.spl p.(?) ACMG pathogenic g.121515964C>T g.121797117C>T IQCB1 NM_001023570: g.37963G>A, c.876+1G>A - IQCB1_000083 - PubMed: Xu 2020 - - Germline yes - - - - LOVD
+?/. 1 - c.876+1G>T r.spl p.? - likely pathogenic (recessive) g.121515964C>A g.121797117C>A - - IQCB1_000070 - PubMed: DiIorio 2017 - - Germline - - - - - LOVD
-?/. 1 - c.876+19A>G r.(=) p.(=) - likely benign g.121515946T>C - IQCB1(NM_001023570.4):c.876+19A>G - IQCB1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.877-46dup r.(=) p.(=) - benign g.121514472dup g.121795625dup IQCB1(NM_001023570.3):c.877-46dupT - IQCB1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.877-43del r.(=) p.(=) - benign g.121514458del g.121795611del IQCB1(NM_001023570.4):c.877-43delA - IQCB1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.877-10G>A r.(=) p.(=) - VUS g.121514423C>T g.121795576C>T IQCB1(NM_001023570.3):c.877-10G>A - IQCB1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.897_900dup r.(?) p.(Ile301Leufs*42) - pathogenic g.121514392_121514395dup g.121795545_121795548dup - - IQCB1_000038 - PubMed: Haer-Wigman 2017 - - Germline yes - - - - LOVD
?/. 1 - c.904C>G r.(?) p.(Gln302Glu) - VUS g.121514386G>C g.121795539G>C IQCB1(NM_001023570.3):c.904C>G (p.Q302E) - IQCB1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.958G>A r.(?) p.(Ala320Thr) - VUS g.121514332C>T - IQCB1(NM_001023570.3):c.958G>A (p.A320T) - IQCB1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.962T>A r.(?) p.(Val321Glu) - VUS g.121514328A>T g.121795481A>T - - IQCB1_000069 - PubMed: Bryant 2018 - - Germline - - - - - LOVD
-?/. 1 - c.986+5A>C r.spl? p.? - likely benign g.121514299T>G g.121795452T>G IQCB1(NM_001023570.3):c.986+5A>C - IQCB1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/. 15 11 c.994C>T r.(?) p.(Arg332*), p.(Arg332Ter) ACMG likely pathogenic, pathogenic g.121509055G>A g.121790208G>A c.[994C>T];[994C>T], IQCB1 (KIAA0036) 994C-T, R332X, IQCB1 c.994C>T, p.R332X, NPHP5 R332X, 2 more items - IQCB1_000036 heterozygous, homozygous, VKGL data sharing initiative Nederland, 1 more item PubMed: Barbelanne 2013, PubMed: Chen-2013, PubMed: Habibi 2020, PubMed: Haer-Wigman 2017, 4 more items - - CLASSIFICATION record, Germline, In vitro (cloned), Unknown ?, yes 0/155, 0/384 controls - - - VKGL-NL_Nijmegen
+/., +?/. 6 - c.1036G>T r.(?) p.(Glu346*) - likely pathogenic, pathogenic, pathogenic (recessive) g.121509013C>A g.121790166C>A 3:121509013C>A ENST00000310864.6:c.1036G>T (Glu346Ter), IQCB1 c.1036G>T, Glu346Stop, 1 more item - IQCB1_000062 heterozygous PubMed: Carrigan 2016, PubMed: Carss 2017, PubMed: Stone 2011, PubMed: Stone 2017, PubMed: Turro 2020 - - Germline, Germline/De novo (untested) ?, yes - - - - LOVD
+?/. 2 - c.1069C>T r.(?) p.(Gln357*) - likely pathogenic g.121508980G>A g.121790133G>A IQCB1 (KIAA0036) C1069T, Q357X, IQCB1 c.1069C>T, p.Q357X - IQCB1_000097 heterozygous PubMed: Estrada-Cuzcano 2011, PubMed: Otto 2005 - - Germline, Unknown ?, yes 0/155 - - - LOVD
+/. 1 - c.1072_1075del r.(?) p.(Arg358Profs*2) - pathogenic g.121508976_121508979del g.121790129_121790132del c.1072_1075del, p.(Arg358Profs*2) - IQCB1_000082 compound heterozygous PubMed: Wang 2019 - - Germline ? - - - - LOVD
+?/. 1 - c.1074_1075dup r.(?) p.(Ala359Glufs*3) - likely pathogenic g.121508978_121508979dup g.121790131_121790132dup IQCB1 c.1074_1075dup, p.A359EfsX3 - IQCB1_000096 homozygous PubMed: Estrada-Cuzcano 2011 - - Germline yes - - - - LOVD
+?/. 3 - c.1076_1077insAG r.(?) p.(Met360Alafs*2) - likely pathogenic g.121508972_121508973insCT g.121790125_121790126insCT IQCB1 (KIAA0036) 1076–1077insAG, A359fsX3 - IQCB1_000095 homozygous PubMed: Otto 2005 - - Germline yes 0/155 - - - LOVD
+/., +?/., ?/. 11 11 c.1090C>T r.(?) p.(Arg364*), p.(Arg364Ter) - likely pathogenic, pathogenic, VUS g.121508959G>A g.121790112G>A c.1090C>T, c.1090G>A, p.(Arg364*), c.[1090C>T];[1090C>T], IQCB1 c.1090C>T (p.R364X), 1 more item - IQCB1_000077 error in annotation: c.1090G>A instead of C>T, compound heterozygous, homozygous, 2 more items PubMed: Chen-2013, PubMed: Otto 2011, PubMed: Sun 2018, PubMed: Tong 2013, PubMed: Wang 2015, 1 more item - - Germline, Germline/De novo (untested) ?, yes 0/384 controls, 174 - - - LOVD
+/. 2 11 c.1108dup r.(?) p.(Met370Asnfs*49) ACMG pathogenic g.121508941dup g.121790094dup - - IQCB1_000044 - Sharon, submitted, PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - Global Variome, with Curator vacancy, Dror Sharon
?/. 1 - c.1123C>A r.(?) p.(His375Asn) - VUS g.121508926G>T g.121790079G>T IQCB1(NM_001023570.4):c.1123C>A (p.H375N) - IQCB1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1128A>C r.(?) p.(Pro376=) - likely benign g.121508921T>G g.121790074T>G IQCB1(NM_001023570.3):c.1128A>C (p.P376=) - IQCB1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., ?/. 3 11i c.1130-1G>C r.spl? p.? - pathogenic, unclassified g.121507280C>G g.121788433C>G IQCB1:c.1130-1G>C - IQCB1_000002 not in 400 control chromosomes PubMed: Chaki 2011, PubMed: Wang 2011, Journal: Wang 2011 - - Germline yes - - - - Xia Wang
-/., ?/. 4 - c.1178T>A r.(?) p.(Ile393Asn) - benign, VUS (!) g.121507231A>T g.121788384A>T IQCB1 I393N p=0.044, 1 more item - IQCB1_000016 VKGL data sharing initiative Nederland, 1 more item PubMed: Fahim 2012 - - CLASSIFICATION record, Unknown ? - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
+?/. 1 - c.1225C>T r.(?) p.(Gln409*) - likely pathogenic g.121507184G>A g.121788337G>A IQCB1(NM_001023570.2):c.1090C>T(p.R364*)/c.1225C>T(p.Q409*) - IQCB1_000099 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 174 - - - LOVD
+?/. 1 - c.1241_1242del r.(?) p.(Leu414HisfsTer4) - likely pathogenic g.121507171_121507172del g.121788324_121788325del - - IQCB1_000078 - PubMed: Coppieters 2014 - - Germline - - - - - LOVD
+/. 1 - c.1244_1245del r.(?) p.(Ile415Argfs*3) - pathogenic g.121507165_121507166del g.121788318_121788319del c.1244_1245del, p.(Ile415Argfs*3) - IQCB1_000081 compound heterozygous PubMed: Wang 2019 - - Germline ? - - - - LOVD
?/. 1 - c.1250A>G r.(?) p.(Tyr417Cys) - VUS g.121507159T>C g.121788312T>C IQCB1(NM_001023570.4):c.1250A>G (p.Y417C) - IQCB1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 12 c.1271A>G r.(?) p.(Gln424Arg) - pathogenic g.121507138T>C - c.1271A/G - IQCB1_000079 - PubMed: Otto 2011 - - Germline - - - - - LOVD
+/., +?/. 2 - c.1278+1G>A r.spl, r.spl? p.(?), p.? - likely pathogenic, pathogenic (recessive) g.121507130C>T g.121788283C>T 3:121507130C>T ENST00000310864.6:c.1278+1G>A, IQCB1 c.1278+1G>A, - IQCB1_000061 heterozygous PubMed: Carss 2017, PubMed: Turro 2020 - - Germline, Germline/De novo (untested) ? - - - - LOVD
+/. 3 12i c.1278+6T>A r.1131_1278del p.Gln378Alafs*2 - pathogenic, pathogenic (recessive) g.121507125A>T g.121788278A>T - - IQCB1_000003 - PubMed: Srilekha 2015 - - Germline yes - - - - Soumittra Nagasamy
-/. 2 - c.1301G>A r.(?) p.(Cys434Tyr) - benign g.121500699C>T g.121781852C>T IQCB1(NM_001023570.3):c.1301G>A (p.C434Y) - IQCB1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-/. 2 - c.1303C>T r.(?) p.(Arg435Cys) - benign g.121500697G>A g.121781850G>A IQCB1(NM_001023570.3):c.1303C>T (p.R435C), IQCB1(NM_001023570.4):c.1303C>T (p.R435C) - IQCB1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+?/. 1 - c.1332G>A r.(?) p.(Trp444Ter) - likely pathogenic g.121500668C>T g.121781821C>T NPHP5 c.1332G>A, p.W444X - IQCB1_000094 homozygous PubMed: Otto 2008 - - Germline yes - - - - LOVD
+?/. 2 13 c.1333C>T r.(?) p.(Arg445*) - likely pathogenic g.121500667G>A g.121781820G>A - - IQCB1_000004 - - - - Germline yes - - - - Soumittra Nagasamy
+/., +?/., ?/. 6 13 c.1363C>T r.(?) p.(Arg445*), p.(Arg455*), p.(Arg455Ter) - likely pathogenic, pathogenic (recessive), unclassified g.121500637G>A g.121781790G>A IQCB1 c.1363C>T, Arg455Stop, IQCB1:c.1363C>T - IQCB1_000005 heterozygous PubMed: Chaki 2011, PubMed: Consugar 2015, PubMed: Hussain 2018, PubMed: Stone 2011 - - Germline, Germline/De novo (untested) yes - - - - Soumittra Nagasamy
?/. 1 - c.1364G>A r.(?) p.(Arg455Gln) - VUS g.121500636C>T g.121781789C>T - - IQCB1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., +?/. 24 10, 13 c.1381C>T r.(?) p.(Arg461*), p.(Arg461Ter) ACMG likely pathogenic, pathogenic, pathogenic (recessive) g.121500619G>A g.121781772G>A 3:121500619G>A ENST00000310864.6:c.1381C>T (Arg461Ter), c.1381C>T, IQCB1 c.1381c.T, p.R461X, 7 more items - IQCB1_000013 heterozygous, homozygous, VKGL data sharing initiative Nederland, 1 more item Sharon, submitted, PubMed: Barbelanne 2013, PubMed: Carss 2017, PubMed: Cideciyan 2011, 9 more items - - CLASSIFICATION record, Germline, Germline/De novo (untested), In vitro (cloned), Unknown ?, yes 0/155, 1/2420 IRD families - - - Global Variome, with Curator vacancy, Dror Sharon, VKGL-NL_Rotterdam
+/. 1 - c.1393T>C r.(?) p.(Tyr465His) - pathogenic g.121500607A>G g.121781760A>G - - IQCB1_000075 - PubMed: Costa 2017 - - Germline - - - - - LOVD
+?/., -?/., ?/. 4 14 c.1441G>A r.(?) p.(Glu481Lys) ACMG likely benign, likely pathogenic, VUS g.121491530C>T g.121772683C>T IQCB1 c.1441G>A, p.(Glu481Lys), IQCB1/NPHP5:p.[E481K];[=], 1 more item - IQCB1_000047 normal 2nd chromosome, single heterozygous variant (recessive), VKGL data sharing initiative Nederland PubMed: Jespersgaar 2019, PubMed: Redin-2012 - - CLASSIFICATION record, Germline ? - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.1448A>G r.(?) p.(His483Arg) - VUS g.121491523T>C - IQCB1(NM_001023570.3):c.1448A>G (p.H483R) - IQCB1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/., ?/. 13 14 c.1465C>T r.(?) p.(Arg489*), p.(Arg489Ter) ACMG likely pathogenic, likely pathogenic (recessive), pathogenic, pathogenic (recessive), VUS g.121491506G>A g.121772659G>A c.1465C>T, IQCB1 c.1465c.T, p.R489X, IQCB1 c.1465C>T, Arg489Stop, IQCB1 c.1465C>T, p.R489X, 3 more items - IQCB1_000068 heterozygous, homozygous PubMed: Carrigan 2016, PubMed: Cideciyan 2011, PubMed: DiIorio 2017, PubMed: Estrada-Cuzcano 2011, 6 more items - - Germline, Unknown ?, yes - - - - LOVD
+/. 1 14 c.1479C>A r.(?) p.(Tyr493*) - pathogenic g.121491492G>T g.121772645G>T - - IQCB1_000001 not in 400 control chromosomes PubMed: Wang 2011, Journal: Wang 2011 - - Germline yes - - - - Xia Wang
+?/. 1 - c.1504A>T r.(?) p.(Arg502*) - likely pathogenic g.121491467G>A g.121772620G>A IQCB1 c.1504A T, p.R502X - IQCB1_000073 error in annotation, c.1504 variant causing p.R502X is actually a C>T change; homozygous PubMed: Estrada-Cuzcano 2011 - - Germline yes - - - - LOVD
+/., +?/., ?/. 5 14 c.1504C>T r.(?) p.(Arg502*) ACMG likely pathogenic, pathogenic, pathogenic (recessive), VUS g.121491467G>A g.121772620G>A IQCB1 c.1504C>T, p.Arg502Ter, IQCB1 c.1S04C>T; p.Arg502Ter, NPHP5 R502X, NPHP5:c.1504C>T - IQCB1_000073 heterozygous, homozygous, 1 more item PubMed: Barbelanne 2013, PubMed: Ghessari 2015, PubMed: Porto 2017, PubMed: Sallum 2020, 1 more item - - Germline, Germline/De novo (untested), In vitro (cloned), Unknown ? - - - - LOVD
-?/. 1 - c.1505G>A r.(?) p.(Arg502Gln) - likely benign g.121491466C>T g.121772619C>T IQCB1(NM_001023570.3):c.1505G>A (p.R502Q) - IQCB1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 3 - c.1516_1517del r.(?) p.(His506Glnfs*13) - likely pathogenic g.121491454_121491455del g.121772607_121772608del IQCB1 c.1516-1517delCA, His506del2cagCA - IQCB1_000059 heterozygous, homozygous PubMed: Stone 2011 - - Germline yes - - - - LOVD
+?/. 6 - c.1516_1517delCA r.(?) p.(His506Glnfs*13) - likely pathogenic g.121491454_121491455del g.121772607_121772608del IQCB1 c.1516-1517delCA, His506del2cagCA, IQCB1 c.1516_1517delCA, p.H506del2cagCA - IQCB1_000059 heterozygous, homozygous PubMed: Cideciyan 2011, PubMed: Stone 2011 - - Germline yes - - - - LOVD
+/., +?/. 13 14 c.1518_1519del r.(?) p.(His506fs*518), p.(His506Glnfs*13) ACMG likely pathogenic, pathogenic g.121491452_121491453del, g.121491454_121491455del g.121772605_121772606del, g.121772607_121772608del c.1518_1519del, c.1518_1519delCA, IQCB1 c.1518_1519deICA; p.His506GInfsTer13, NPHP5 H506fsX518, 5 more items - IQCB1_000059 heterozygous, heterozygous, individual solved, variant non-causal, homozygous, 4 more items PubMed: Barbelanne 2013, PubMed: Estrada-Cuzcano 2011, PubMed: Holtan 2020, PubMed: Jespersgaar 2019, 4 more items - - CLASSIFICATION record, Germline, In vitro (cloned), Unknown ?, yes 1/899 cases - - - Global Variome, with Curator vacancy, VKGL-NL_Nijmegen
+?/. 5 - c.1518_1519delCA r.(?) p.(His506Glnfs*13) - likely pathogenic g.121491454_121491455del g.121772607_121772608del IQCB1 (KIAA0036) 1518–1519delCA, H506fsX5 - IQCB1_000059 homozygous PubMed: Otto 2005 - - Germline yes 0/155 - - - LOVD
+/. 3 - c.1522_1523dupGA r.(?) p.(Ala509Lysfs*3) - pathogenic g.121491451_121491452dup g.121772604_121772605dup IQCB1/NPHP5 c.1522_1523dupGA (Hom), p.Ala509Lysfs*3 - IQCB1_000093 heterozygous, homozygous PubMed: Kang 2016 - - Unknown ? - - - - LOVD
+?/. 1 - c.1532_1536dup r.(?) p.(Gln513Ter) - likely pathogenic g.121491436_121491440dup g.121772589_121772593dup IQCB1(NM_001023570.3):c.1532_1536dupTAGCA (p.Q513*) - IQCB1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1535_1536insATAGC r.(?) p.(Gln513*) - likely pathogenic g.121491436_121491440dup g.121772589_121772593dup IQCB1 c.1535_1536insATAGC, p.Q512X - IQCB1_000055 error in annotation, heterozygous PubMed: Estrada-Cuzcano 2011 - - Germline yes - - - - LOVD
+?/. 1 - c.1540_1541dup r.(?) p.(Thr516Alafs*7) ACMG likely pathogenic g.121491430_121491431dup g.121772583_121772584dup - - IQCB1_000007 - PubMed: Trujillano 2017 - - Germline - - - - - Daniel Trujillano
-?/., ?/. 4 - c.1549A>T r.(?) p.(Asn517Tyr) ACMG likely benign, VUS g.121491422T>A g.121772575T>A IQCB1(NM_001023570.3):c.1549A>T (p.N517Y), IQCB1(NM_001023570.4):c.1549A>T (p.N517Y), 1 more item - IQCB1_000011 heterozygous, individual solved, variant non-causal, VKGL data sharing initiative Nederland PubMed: Rodriguez-Munoz 2020 - - CLASSIFICATION record, Germline ? - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
+?/. 6 14 c.1558C>T r.(?) p.(Gln520*), p.(Gln520Ter) - likely pathogenic, likely pathogenic (recessive) g.121491413G>A g.121772566G>A IQCB1, variant 1: c.1558C>T/p.Q520*, variant 2: c.1558C>T/p.Q520* - IQCB1_000006 solved, homozygous PubMed: Weisschuh 2016, PubMed: Weisschuh 2020 - - Germline yes - - - - Soumittra Nagasamy
-?/. 1 - c.1567+111A>G r.(=) p.(=) - likely benign g.121491293T>C g.121772446T>C IQCB1(NM_001023570.3):c.1567+111A>G - IQCB1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1568-19del r.(=) p.(=) - benign g.121489442del g.121770595del IQCB1(NM_001023570.3):c.1568-19delT - IQCB1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1595G>A r.(?) p.(Gly532Glu) - likely benign g.121489394C>T g.121770547C>T IQCB1(NM_001023570.3):c.1595G>A (p.G532E) - IQCB1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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