Full data view for gene IQCB1

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.

151 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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.? r.? p.? Parent #2 - pathogenic g.? - p.Arg489* - OPA1_000148 - PubMed: Carrigan 2016 - - Germline - - - 0 - DNA SEQ-NG - gene panel retinal disease - PubMed: Carrigan 2016 - - - Ireland - - 0 - - 1 LOVD
+/. - c.? r.? p.? Parent #2 - pathogenic g.? - p.Glu346* - OPA1_000148 - PubMed: Carrigan 2016 - - Germline - - - 0 - DNA SEQ-NG - gene panel retinal disease - PubMed: Carrigan 2016 - - - Ireland - - 0 - - 1 LOVD
+/. - c.? r.? p.? Parent #2 - pathogenic (recessive) g.? - 659delG - OPA1_000148 - PubMed: Consugar 2015 - - Germline yes - - 0 - DNA SEQ-NG - 238-gene panel retinal disease OGI-326-773 PubMed: Consugar 2015 - - - United States - - 0 - - 1 LOVD
-/. - c.-193T>C r.(?) p.(=) Unknown - benign g.121553904A>G g.121835057A>G - - IQCB1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-102+5C>A r.spl? p.? Unknown - VUS g.121553808G>T g.121834961G>T IQCB1(NM_001023570.3):c.-102+5C>A - EAF2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.162T>C r.(?) p.(Tyr54=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.214C>T r.(?) p.(Arg72*) Unknown - pathogenic (recessive) g.121547366G>A - 3:121547366G>A ENST00000310864.6:c.214C>T (Arg72Ter) - IQCB1_000064 - PubMed: Carss 2017 - - Germline - - - 0 - DNA SEQ-NG - WGS retinal disease G007704 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - 0 - - 1 LOVD
+/. - c.214C>T r.(?) p.(Arg72*) Unknown - pathogenic g.121547366G>A - IQCB1(NM_001023570.3):c.214C>T (p.R72*) - IQCB1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.214C>T r.(?) p.(Arg72*) Parent #2 - likely pathogenic g.121547366G>A g.121828519G>A - - IQCB1_000064 - PubMed: Stone 2017 - - Germline - - - 0 - DNA SEQ-NG - - retinal disease 438 PubMed: Stone 2017 1 affected M - (United States) - - 0 - - 1 LOVD
+?/. - c.214C>T r.(?) p.(Arg72*) Unknown ACMG likely pathogenic g.121547366G>A g.121828519G>A CNGB1 c.2957A>T, p.(Asn986Ile), c.3131_3149dup, p.(Phe1051Glufs*15), IQCB1 c.214C>T, p.(Arg72*) - IQCB1_000064 - PubMed: Jespersgaar 2019 - - Germline ? - - 0 - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 86 PubMed: Jespersgaar 2019 - ? - Denmark - - 0 - - 1 LOVD
+/. - c.260T>G r.(?) p.(Leu87*) Unknown - pathogenic (recessive) g.121547320A>C - 3:121547320A>C ENST00000310864.6:c.260T>G (Leu87Ter) - IQCB1_000063 - PubMed: Carss 2017 - - Germline - - - 0 - DNA SEQ-NG - WGS retinal disease G001275 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - 0 - - 1 LOVD
+/. - c.273dup r.(?) p.(Val92CysfsTer15) Unknown - pathogenic g.121545018dup g.121826171dup - - IQCB1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.388G>A r.(?) p.(Ala130Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.393+15A>G r.(=) p.(=) Unknown - benign g.121544883T>C g.121826036T>C IQCB1(NM_001023570.3):c.393+15A>G - IQCB1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.394-1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.121527857C>T - - - IQCB1_000074 - PubMed: Porto 2017 - - Germline - - - 0 - DNA SEQ-NG - 300-gene panel retinal disease Fam10PatFBP_30 PubMed: Porto 2017 proband - - Brazil - - 0 - - 1 LOVD
-/. - c.424T>C r.(?) p.(Phe142Leu) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 6 c.424_425del r.(?) p.(Phe142Profs*5) Parent #1 - likely pathogenic (recessive) g.121527825_121527826del g.121808978_121808979del - - IQCB1_000040 - PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - Germline - - - 0 - DNA SEQ, SEQ-NG - 123 gene panel retinal disease CIC00953 PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - - France - - 0 - - 1 Global Variome, with Curator vacancy
+?/. - c.424_425del r.(?) p.(Phe142Profs*5) Parent #1 - likely pathogenic g.121527825_121527826del g.121808978_121808979del c.424_425delTT - IQCB1_000040 - PubMed: Holtan 2020 - - Germline - 1/899 cases - 0 - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - 0 - - 1 Global Variome, with Curator vacancy
+/. - c.424_425del r.(?) p.(Phe142Profs*5) Unknown - pathogenic (recessive) g.121527825_121527826del - 3:121527824GAA>G ENST00000310864.6:c.424_425delTT (Phe142ProfsTer5) - IQCB1_000040 - PubMed: Carss 2017 - - Germline - - - 0 - DNA SEQ-NG - WGS retinal disease G007704 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - 0 - - 1 LOVD
+/. - c.424_425del r.(?) p.(Phe142Profs*5) Unknown - pathogenic g.121527828_121527829del g.121808981_121808982del - - IQCB1_000040 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - M - - - - 0 - - 1 IMGAG
+?/. - c.424_425del r.(?) p.(Phe142Profs*5) Parent #1 - likely pathogenic g.121527828_121527829del g.121808981_121808982del 421_422delTT - IQCB1_000040 - PubMed: Stone 2017 - - Germline - - - 0 - DNA SEQ-NG - - retinal disease 398 PubMed: Stone 2017 1 affected M - (United States) - - 0 - - 1 LOVD
+?/. - c.424_425del r.(?) p.(Phe142Profs*5) Both (homozygous) - likely pathogenic g.121527828_121527829del g.121808981_121808982del 421_422delTT - IQCB1_000040 - PubMed: Stone 2017 - - Germline - - - 0 - DNA SEQ-NG - - retinal disease 399 PubMed: Stone 2017 1 affected M - (United States) - - 0 - - 1 LOVD
+?/. - c.424_425del r.(?) p.(Phe142Profs*5) Parent #1 - likely pathogenic g.121527828_121527829del g.121808981_121808982del 421_422delTT - IQCB1_000040 - PubMed: Stone 2017 - - Germline - - - 0 - DNA SEQ-NG - - retinal disease 410 PubMed: Stone 2017 1 affected F - (United States) - - 0 - - 1 LOVD
+?/. - c.424_425del r.(?) p.(Phe142Profs*5) Parent #1 - likely pathogenic g.121527828_121527829del g.121808981_121808982del 421_422delTT - IQCB1_000040 - PubMed: Stone 2017 - - Germline - - - 0 - DNA SEQ-NG - - retinal disease 411 PubMed: Stone 2017 1 affected M - (United States) - - 0 - - 1 LOVD
+/. - c.424_425del r.(?) p.(Phe142Profs*5) Unknown - pathogenic g.121527828_121527829del g.121808981_121808982del - - IQCB1_000040 - PubMed: Haer-Wigman 2017 - - Germline yes - - 0 - DNA SEQ-NG - gene panel ? 1955 PubMed: Haer-Wigman 2017 family - no Netherlands - - 0 - - 1 LOVD
+?/. - c.424_425del r.(?) p.(Phe142ProfsTer5) Both (homozygous) - likely pathogenic g.121527828_121527829del g.121808981_121808982del - - IQCB1_000040 - PubMed: Coppieters 2014 - - Germline - - - 0 - DNA SEQ - WES retinal disease Fam10 PubMed: Coppieters 2014 see paper - yes Belgium - - 0 - - 1 LOVD
+?/. - c.479_482del r.(?) p.(Ile160Argfs*20) Parent #1 - likely pathogenic (recessive) g.121527769_121527772del g.121808922_121808925del - - IQCB1_000072 - PubMed: DiIorio 2017 - - Germline - - - 0 - DNA SEQ-NG - 150-gene panel retinal disease Pat32 PubMed: Di Iorio 2017 - - - Italy - - 0 - - 1 LOVD
-?/. - c.482A>G r.(?) p.(Gln161Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.488-1G>A r.spl p.(?) Both (homozygous) - likely pathogenic g.121526291C>T g.121807444C>T IQCB1;NM_001023570.2;c.[488-1G>A];[488-1G>A] - IQCB1_000084 homozygous PubMed: Jiman 2020 - - Unknown ? - - 0 - DNA SEQ-NG-I - 176 genes panel retinal disease 46 PubMed: Jiman 2020 - F - (United Kingdom (Great Britain)) - - 0 - - 1 LOVD
+?/. - c.493C>T r.(?) p.(Gln165*) Parent #2 - likely pathogenic g.121526285G>A g.121807438G>A - - IQCB1_000076 - PubMed: Stone 2017 - - Germline - - - 0 - DNA SEQ-NG - - retinal disease 411 PubMed: Stone 2017 1 affected M - (United States) - - 0 - - 1 LOVD
-/. - c.574C>T r.(?) p.(Leu192=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.574C>T r.(?) p.(Leu192=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.587+38del r.(=) p.(=) Unknown - benign g.121526161del g.121807314del IQCB1(NM_001023570.4):c.587+38delT - IQCB1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.588-16del r.(=) p.(=) Unknown - benign g.121518246del g.121799399del IQCB1(NM_001023570.4):c.588-16delT - IQCB1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.588T>C r.(?) p.(Ser196=) Unknown - benign g.121518221A>G g.121799374A>G IQCB1(NM_001023570.2):c.588T>C (p.(=)), IQCB1(NM_001023570.3):c.588T>C (p.S196=), IQCB1(NM_001023570.4):c.588T>C (p.S196=) - IQCB1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.588T>C r.(?) p.(Ser196=) Unknown - likely benign g.121518221A>G g.121799374A>G IQCB1(NM_001023570.2):c.588T>C (p.(=)), IQCB1(NM_001023570.3):c.588T>C (p.S196=), IQCB1(NM_001023570.4):c.588T>C (p.S196=) - IQCB1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.588T>C r.(?) p.(Ser196=) Unknown - likely benign g.121518221A>G g.121799374A>G IQCB1(NM_001023570.2):c.588T>C (p.(=)), IQCB1(NM_001023570.3):c.588T>C (p.S196=), IQCB1(NM_001023570.4):c.588T>C (p.S196=) - IQCB1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.588T>C r.(?) p.(Ser196=) Unknown - likely benign g.121518221A>G g.121799374A>G IQCB1(NM_001023570.2):c.588T>C (p.(=)), IQCB1(NM_001023570.3):c.588T>C (p.S196=), IQCB1(NM_001023570.4):c.588T>C (p.S196=) - IQCB1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.686del r.(?) p.(Thr229Metfs*8) Parent #2 - likely pathogenic (recessive) g.121518123del g.121799276del - - IQCB1_000060 - PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - Germline - - - 0 - DNA SEQ, SEQ-NG - 123 gene panel retinal disease CIC00953 PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - - France - - 0 - - 1 Global Variome, with Curator vacancy
+/. - c.700_701del r.(?) p.(Leu234ThrfsTer5) Unknown - pathogenic g.121518108_121518109del g.121799261_121799262del - - IQCB1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.767-263_767-262del r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.767-262del r.(=) p.(=) Unknown - benign g.121516350del g.121797503del IQCB1(NM_001023570.4):c.767-262delT - IQCB1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.767-260_767-259del r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.767-227_767-226del r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.772del r.(?) p.(Arg258Aspfs*4) Unknown - VUS g.121516069del g.121797222del 772delA - IQCB1_000071 - PubMed: Bryant 2018 - - Germline - - - 0 - DNA SEQ-NG - WES retinal disease JB333 PubMed: Bryant 2018 - - - United States - - 0 - - 1 LOVD
?/. - c.775C>T r.(?) p.(Arg259Cys) Unknown - VUS g.121516066G>A g.121797219G>A IQCB1(NM_001023570.3):c.775C>T (p.R259C) - IQCB1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.776G>A r.(?) p.(Arg259His) Unknown - likely benign g.121516065C>T - IQCB1(NM_001023570.3):c.776G>A (p.R259H) - IQCB1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.782T>G r.(?) p.(Leu261Arg) Unknown - likely benign g.121516059A>C g.121797212A>C IQCB1(NM_001023570.3):c.782T>G (p.L261R), IQCB1(NM_001023570.4):c.782T>G (p.L261R) - IQCB1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.782T>G r.(?) p.(Leu261Arg) Unknown - likely benign g.121516059A>C g.121797212A>C IQCB1(NM_001023570.3):c.782T>G (p.L261R), IQCB1(NM_001023570.4):c.782T>G (p.L261R) - IQCB1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.817G>T r.(?) p.(Glu273*) Parent #1 - 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 - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 18 Mohammed Faruq
+/. - c.876+1G>A r.spl p.(?) Parent #1 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 - - 0 - DNA SEQ-NG - targeted next-generation sequencing retinal disease 19398 PubMed: Xu 2020 - ? no China - - 0 - - 1 LOVD
+?/. - c.876+1G>T r.spl p.? Parent #2 - likely pathogenic (recessive) g.121515964C>A g.121797117C>A - - IQCB1_000070 - PubMed: DiIorio 2017 - - Germline - - - 0 - DNA SEQ-NG - 150-gene panel retinal disease Pat32 PubMed: Di Iorio 2017 - - - Italy - - 0 - - 1 LOVD
-?/. - c.876+19A>G r.(=) p.(=) Unknown - likely benign g.121515946T>C - IQCB1(NM_001023570.3):c.876+19A>G - IQCB1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.877-46dup r.(=) p.(=) Unknown - benign g.121514472dup g.121795625dup IQCB1(NM_001023570.3):c.877-46dupT - IQCB1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.877-43del r.(=) p.(=) Unknown - benign g.121514458del g.121795611del IQCB1(NM_001023570.4):c.877-43delA - IQCB1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.877-10G>A r.(=) p.(=) Unknown - VUS g.121514423C>T g.121795576C>T IQCB1(NM_001023570.3):c.877-10G>A - IQCB1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.897_900dup r.(?) p.(Ile301Leufs*42) Unknown - pathogenic g.121514392_121514395dup g.121795545_121795548dup - - IQCB1_000038 - PubMed: Haer-Wigman 2017 - - Germline yes - - 0 - DNA SEQ-NG - gene panel ? 1955 PubMed: Haer-Wigman 2017 family - no Netherlands - - 0 - - 1 LOVD
?/. - c.904C>G r.(?) p.(Gln302Glu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.958G>A r.(?) p.(Ala320Thr) Unknown - VUS g.121514332C>T - IQCB1(NM_001023570.3):c.958G>A (p.A320T) - IQCB1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.962T>A r.(?) p.(Val321Glu) Unknown - VUS g.121514328A>T g.121795481A>T - - IQCB1_000069 - PubMed: Bryant 2018 - - Germline - - - 0 - DNA SEQ-NG - WES retinal disease JB28 PubMed: Bryant 2018 - - - United States - - 0 - - 1 LOVD
-?/. - c.986+5A>C r.spl? p.? Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.994C>T r.(?) p.(Arg332Ter) Unknown - pathogenic g.121509055G>A g.121790208G>A - - IQCB1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.994C>T r.(?) p.(Arg332*) Parent #1 - pathogenic g.121509055G>A g.121790208G>A - - IQCB1_000036 - PubMed: Haer-Wigman 2017 - - Germline - - - 0 - DNA SEQ-NG - gene panel ? 52 PubMed: Haer-Wigman 2017 patient - no Netherlands - - 0 - - 1 LOVD
+/. - c.994C>T r.(?) p.(Arg332Ter) Both (homozygous) - pathogenic g.121509055G>A g.121790208G>A - - IQCB1_000036 - PubMed: Wang 2015 - - Germline - - - 0 - DNA SEQ-NG - 163-gene panel retinal disease 154 PubMed: Wang 2015 index case - - China - - 0 - - 1 LOVD
+?/. 11 c.994C>T r.(?) p.(Arg332*) Both (homozygous) - likely pathogenic g.121509055G>A - c.[994C>T];[994C>T] - IQCB1_000036 - PubMed: Chen-2013 - - Germline - 0/384 controls - 0 - DNA SEQ blood - retinal disease - PubMed: Chen-2013 - F - China Chinese - 0 - - 1 LOVD
+/. - c.994C>T r.(?) p.(Arg332*) Parent #2 ACMG pathogenic g.121509055G>A g.121790208G>A IQCB1 NM_001023570: g.44872C>T, c.994C>T, p.R332X - IQCB1_000036 - PubMed: Xu 2020 - - Germline yes - - 0 - DNA SEQ-NG - targeted next-generation sequencing retinal disease 19398 PubMed: Xu 2020 - ? no China - - 0 - - 1 LOVD
+/. - c.1036G>T r.(?) p.(Glu346*) Unknown - pathogenic (recessive) g.121509013C>A - 3:121509013C>A ENST00000310864.6:c.1036G>T (Glu346Ter) - IQCB1_000062 - PubMed: Carss 2017 - - Germline - - - 0 - DNA SEQ-NG - WGS retinal disease G001275 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - 0 - - 1 LOVD
+?/. - c.1036G>T r.(?) p.(Glu346*) Parent #1 - likely pathogenic g.121509013C>A g.121790166C>A - - IQCB1_000062 - PubMed: Stone 2017 - - Germline - - - 0 - DNA SEQ-NG - - retinal disease 438 PubMed: Stone 2017 1 affected M - (United States) - - 0 - - 1 LOVD
+?/. - c.1036G>T r.(?) p.(Glu346*) Parent #2 - likely pathogenic g.121509013C>A g.121790166C>A - - IQCB1_000062 - PubMed: Stone 2017 - - Germline - - - 0 - DNA SEQ-NG - - retinal disease 398 PubMed: Stone 2017 1 affected M - (United States) - - 0 - - 1 LOVD
+/. - c.1036G>T r.(?) p.(Glu346*) Parent #1 - pathogenic g.121509013C>A g.121790166C>A - - IQCB1_000062 - PubMed: Carrigan 2016 - - Germline - - - 0 - DNA SEQ-NG - gene panel retinal disease - PubMed: Carrigan 2016 - - - Ireland - - 0 - - 1 LOVD
+/. - c.1072_1075del r.(?) p.(Arg358Profs*2) Unknown - pathogenic g.121508976_121508979del g.121790129_121790132del c.1072_1075del, p.(Arg358Profs*2) - IQCB1_000082 compound heterozygous PubMed: Wang 2019 - - Germline ? - - 0 - DNA SEQ-NG blood panel of 126 genes retinal disease 13780 PubMed: Wang 2019 - M - China - - 0 - - 1 LOVD
+/. - c.1090C>T r.(?) p.(Arg364Ter) Both (homozygous) - pathogenic g.121508959G>A g.121790112G>A - - IQCB1_000077 - PubMed: Wang 2015 - - Germline - - - 0 - DNA SEQ-NG - 163-gene panel retinal disease 697 PubMed: Wang 2015 index case - - China - - 0 - - 1 LOVD
?/. - c.1090C>T r.(?) p.(Arg364Ter) Parent #2 - VUS g.121508959G>A g.121790112G>A - - IQCB1_000077 - PubMed: Wang 2015 - - Germline - - - 0 - DNA PCR, SEQ, SEQ-NG-I blood - retinal disease 571 PubMed: Wang 2015 index case F - China Asia - 0 - - 1 Manon Peeters
+/. 11 c.1090C>T r.(?) p.(Arg364*) Unknown - pathogenic g.121508959G>A - c.1090C>T - IQCB1_000077 unknown variant 2nd chromosome PubMed: Otto 2011 - - Germline - - - 0 - DNA PCR, SEQ, SEQ-NG-S Blood - retinal disease - PubMed: Otto 2011 - - - Germany - - 0 - - 1 LOVD
+?/. - c.1090C>T r.(?) p.(Arg364*) Unknown - likely pathogenic g.121507184G>A g.121788337G>A IQCB1(NM_001023570.2):c.1090C>T(p.R364*)/c.1225C>T(p.Q409*) - IQCB1_000077 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 174 - 0 - DNA SEQ-NG-I blood - ? WHP74 PubMed: Sun 2018 - M - China - - 0 - - 1 LOVD
+?/. 11 c.1090C>T r.(?) p.(Arg364*) Both (homozygous) - likely pathogenic g.121508959G>A - c.[1090C>T];[1090C>T] - IQCB1_000077 - PubMed: Chen-2013 - - Germline - 0/384 controls - 0 - DNA SEQ blood - retinal disease - PubMed: Chen-2013 - M - China Chinese - 0 - - 1 LOVD
+?/. - c.1090C>T r.(?) p.(Arg364*) Both (homozygous) - likely pathogenic g.121508959G>A g.121790112G>A c.1090G>A, p.(Arg364*) - IQCB1_000077 error in annotation: c.1090G>A instead of C>T, Homozygous PubMed: Wang 2019 - - Germline yes - - 0 - DNA SEQ-NG blood panel of 126 genes retinal disease 13641 PubMed: Wang 2019 - M - China - - 0 - - 1 LOVD
+?/. - c.1090C>T r.(?) p.(Arg364*) Unknown - likely pathogenic g.121508959G>A g.121790112G>A c.1090G>A, p.(Arg364*) - IQCB1_000077 error in annotation: c.1090G>A instead of C>T, compound heterozygous PubMed: Wang 2019 - - Germline ? - - 0 - DNA SEQ-NG blood panel of 126 genes retinal disease 13780 PubMed: Wang 2019 - M - China - - 0 - - 1 LOVD
+?/. - c.1090C>T r.(?) p.(Arg364*) Both (homozygous) - likely pathogenic g.121508959G>A g.121790112G>A c.1090G>A, p.(Arg364*) - IQCB1_000077 error in annotation: c.1090G>A instead of C>T, Homozygous PubMed: Wang 2019 - - Germline yes - - 0 - DNA SEQ-NG blood panel of 126 genes retinal disease 13862 PubMed: Wang 2019 - F - China - - 0 - - 1 LOVD
+?/. - c.1090C>T r.(?) p.(Arg364*) Unknown - likely pathogenic g.121508959G>A g.121790112G>A c.1090G>A, p.(Arg364*) - IQCB1_000077 error in annotation: c.1090G>A instead of C>T, compound heterozygous PubMed: Wang 2019 - - Germline ? - - 0 - DNA SEQ-NG blood panel of 126 genes retinal disease 14408 PubMed: Wang 2019 - M - China - - 0 - - 1 LOVD
+/. 11 c.1108dup r.(?) p.(Met370Asnfs*49) Both (homozygous) - pathogenic g.121508941dup g.121790094dup - - IQCB1_000044 - Sharon, submitted - - Germline - - - 0 - DNA SEQ - - SLSN - Sharon, submitted - F yes Israel Arab Christian - 0 - - 1 Dror Sharon
+/. - c.1108dup r.(?) p.(Met370Asnfs*49) Unknown ACMG pathogenic g.121508941dup - - - IQCB1_000044 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - 0 - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.1123C>A r.(?) p.(His375Asn) Unknown - VUS g.121508926G>T g.121790079G>T IQCB1(NM_001023570.3):c.1123C>A (p.H375N) - IQCB1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1128A>C r.(?) p.(Pro376=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 11i c.1130-1G>C r.spl? p.? Both (homozygous) - pathogenic g.121507280C>G g.121788433C>G - - IQCB1_000002 not in 400 control chromosomes PubMed: Wang 2011, Journal: Wang 2011 - - Germline yes - - 0 - DNA SEQ - - LCA - PubMed: Wang 2011, Journal: Wang 2011 5-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents/sibs - yes Saudi Arabia - - 0 - - 3 Johan den Dunnen
+/. 11i c.1130-1G>C r.spl? p.? Both (homozygous) - pathogenic g.121507280C>G g.121788433C>G - - IQCB1_000002 not in 400 control chromosomes PubMed: Wang 2011, Journal: Wang 2011 - - Germline yes - - 0 - DNA SEQ - - LCA - PubMed: Wang 2011, Journal: Wang 2011 6-generation family, affected male, family, unaffected heterozygous carrier parents/sibs M yes Saudi Arabia - - 0 - - 1 Johan den Dunnen
?/. 11i c.1130-1G>C r.spl? p.? Both (homozygous) - unclassified g.121507280C>G - IQCB1:c.1130-1G>C - IQCB1_000002 - PubMed: Chaki 2011 - - Germline - - - 0 - DNA PCR, SEQ blood - retinal disease - PubMed: Chaki 2011 - - - - - - 0 - - 1 LOVD
-/. - c.1178T>A r.(?) p.(Ile393Asn) Unknown - benign g.121507231A>T g.121788384A>T IQCB1(NM_001023570.3):c.1178T>A (p.I393N), IQCB1(NM_001023570.4):c.1178T>A (p.I393N) - IQCB1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1178T>A r.(?) p.(Ile393Asn) Unknown - benign g.121507231A>T g.121788384A>T IQCB1(NM_001023570.3):c.1178T>A (p.I393N), IQCB1(NM_001023570.4):c.1178T>A (p.I393N) - IQCB1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1178T>A r.(?) p.(Ile393Asn) Unknown - benign g.121507231A>T g.121788384A>T IQCB1(NM_001023570.3):c.1178T>A (p.I393N), IQCB1(NM_001023570.4):c.1178T>A (p.I393N) - IQCB1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1225C>T r.(?) p.(Gln409*) Unknown - likely pathogenic g.121508959G>A g.121790112G>A IQCB1(NM_001023570.2):c.1090C>T(p.R364*)/c.1225C>T(p.Q409*) - IQCB1_000077 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 174 - 0 - DNA SEQ-NG-I blood - ? WHP74 PubMed: Sun 2018 - M - China - - 0 - - 1 LOVD
+?/. - c.1241_1242del r.(?) p.(Leu414HisfsTer4) Both (homozygous) - likely pathogenic g.121507171_121507172del g.121788324_121788325del - - IQCB1_000078 - PubMed: Coppieters 2014 - - Germline - - - 0 - DNA SEQ - WES retinal disease Fam21 PubMed: Coppieters 2014 see paper - - Italy - - 0 - - 1 LOVD
+/. - c.1244_1245del r.(?) p.(Ile415Argfs*3) Unknown - pathogenic g.121507165_121507166del g.121788318_121788319del c.1244_1245del, p.(Ile415Argfs*3) - IQCB1_000081 compound heterozygous PubMed: Wang 2019 - - Germline ? - - 0 - DNA SEQ-NG blood panel of 126 genes retinal disease 14408 PubMed: Wang 2019 - M - China - - 0 - - 1 LOVD
?/. - c.1250A>G r.(?) p.(Tyr417Cys) Unknown - VUS g.121507159T>C g.121788312T>C IQCB1(NM_001023570.3):c.1250A>G (p.Y417C) - IQCB1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1271A>G r.(?) p.(Gln424Arg) Unknown - pathogenic g.121507138T>C - c.1271A/G - IQCB1_000079 - PubMed: Otto 2011 - - Germline - - - 0 - DNA PCR, SEQ, SEQ-NG-S Blood - retinal disease - PubMed: Otto 2011 - - yes Turkey - - 0 - - 1 LOVD
+/. - c.1278+1G>A r.spl? p.? Unknown - pathogenic (recessive) g.121507130C>T - 3:121507130C>T ENST00000310864.6:c.1278+1G>A - IQCB1_000061 - PubMed: Carss 2017 - - Germline - - - 0 - DNA SEQ-NG - WGS retinal disease G005007 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - 0 - - 1 LOVD
+/. 12i c.1278+6T>A r.1131_1278del p.Gln378Alafs*2 Paternal (inferred) - pathogenic g.121507125A>T g.121788278A>T - - IQCB1_000003 - - - - Germline yes - - 0 - DNA, RNA RT-PCR, SEQ - - LCA - - - F yes India South India - 0 - - 1 Soumittra Nagasamy
+/. 12i c.1278+6T>A r.1131_1278del p.Gln378Alafs*2 Maternal (inferred) - pathogenic g.121507125A>T g.121788278A>T - - IQCB1_000003 - - - - Germline yes - - 0 - DNA, RNA RT-PCR, SEQ - - LCA - - - F yes India South India - 0 - - 1 Soumittra Nagasamy
+/. 12i c.1278+6T>A r.1131_1278del p.Gln378Alafs*2 Both (homozygous) - pathogenic (recessive) g.121507125A>T g.121788278A>T - - IQCB1_000003 - PubMed: Srilekha 2015 - - Germline - - - 0 - DNA, RNA arraySNP, RT-PCR, SEQ - - retinal disease FamLCA-4 PubMed: Srilekha 2015 family - yes India India-S - 0 - - 1 LOVD
-/. - c.1301G>A r.(?) p.(Cys434Tyr) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
Legend   How to query   « First ‹ Prev     1 2     Next › Last »