Full data view for gene KCNV2

This database is one of the ""Eye disease"" gene variant databases.""
Information The variants shown are described using the NM_133497.3 transcript reference sequence.

48 entries on 1 page. Showing entries 1 - 48.
Legend   How to query  

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.1381G>A r.(?) p.(Gly461Arg) Unknown - pathogenic g.2729470G>A g.2729470G>A KCNV2(NM_133497.3):c.1381G>A (p.G461R) - KCNV2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1381G>A r.(?) p.(Gly461Arg) Unknown - pathogenic g.2729470G>A g.2729470G>A KCNV2(NM_133497.3):c.1381G>A (p.G461R) - KCNV2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1381G>A r.(?) p.(Gly461Arg) Both (homozygous) - likely pathogenic g.2729470G>A g.2729470G>A - - KCNV2_000005 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 12013892 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+/. 2 c.1381G>A r.(?) p.(Gly461Arg) Unknown - pathogenic g.2729470G>A - c.1381G>A - KCNV2_000005 - PubMed: Thiadens_2012 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Thiadens_2012 - - no - - - - - - 1 LOVD
+?/. - c.1381G>A r.(?) p.(Gly461Arg) Parent #1 - likely pathogenic g.2729470G>A g.2729470G>A KCNV2, variant 1: c.442G>A/p.E148K, variant 2: c.1381G>A/p.G461R - KCNV2_000005 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET6 targeted sequencing panel - see paper retinal disease 1025 PubMed: Weisschuh 2020 Filing key number: 546, cone dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. 2 c.1381G>A r.(?) p.(Gly461Arg) Parent #1 - likely pathogenic g.2729470G>A - c.1381G>A - KCNV2_000005 - PubMed: Maggi_2021 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - F - Switzerland - - - - - 1 LOVD
+?/. 2 c.1381G>A r.(?) p.(Gly461Arg) Parent #1 - likely pathogenic g.2729470G>A - c.1381G>A - KCNV2_000005 - PubMed: Maggi_2021 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - M - Switzerland - - - - - 1 LOVD
+?/. 1,2 c.1381G>A r.(?) p.(Gly461Arg) Unknown - likely pathogenic g.2729470G>A g.2729470G>A KCNV2 c.8_11del c.1381G>A, p.Lys3Argfs*96 p.Gly461Arg - KCNV2_000005 heterozygous PubMed: Gliem 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease 135 PubMed: Gliem 2020 - M - (Germany) - - - - - 1 LOVD
+?/. - c.1381G>A r.(?) p.(Gly461Arg) Both (homozygous) - likely pathogenic g.2729470G>A g.2729470G>A KCNV2 c.1381G>A, p.G461R - KCNV2_000005 homozygous PubMed: Wissinger 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease 14590_KH PubMed: Wissinger 2008 - M - - - - - - - 1 LOVD
+?/. - c.1381G>A r.(?) p.(Gly461Arg) Parent #2 - likely pathogenic g.2729470G>A g.2729470G>A KCNV2 c.1381G>A, p.G461R - KCNV2_000005 heterozygous PubMed: Wissinger 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease 14588_GD PubMed: Wissinger 2008 - M - - - - - - - 1 LOVD
+?/. - c.1381G>A r.(?) p.(Gly461Arg) Parent #2 - likely pathogenic g.2729470G>A g.2729470G>A KCNV2 c.1381G>A, p.G461R - KCNV2_000005 heterozygous PubMed: Wissinger 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease 14589_CH PubMed: Wissinger 2008 - F - - - - - - - 1 LOVD
+?/. - c.1381G>A r.(?) p.(Gly461Arg) Parent #2 - likely pathogenic g.2729470G>A g.2729470G>A KCNV2 c.1381G>A, p.G461R - KCNV2_000005 heterozygous PubMed: Wissinger 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease 14593_NN PubMed: Wissinger 2008 sibling of 15268_CN M - - - - - - - 1 LOVD
+?/. - c.1381G>A r.(?) p.(Gly461Arg) Parent #2 - likely pathogenic g.2729470G>A g.2729470G>A KCNV2 c.1381G>A, p.G461R - KCNV2_000005 heterozygous PubMed: Wissinger 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease 15268_CN PubMed: Wissinger 2008 sibling of 14593_NN F - - - - - - - 1 LOVD
+?/. - c.1381G>A r.(?) p.(Gly461Arg) Parent #2 - likely pathogenic g.2729470G>A g.2729470G>A KCNV2 c.1381G>A, p.G461R - KCNV2_000005 heterozygous PubMed: Wissinger 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease 14767_SKH PubMed: Wissinger 2008 - M - - - - - - - 1 LOVD
+?/. - c.1381G>A r.(?) p.(Gly461Arg) Parent #1 - likely pathogenic g.2729470G>A g.2729470G>A KCNV2 c.1381G>A, p.Gly461Arg - KCNV2_000005 heterozygous PubMed: Thiagalingam 2007 - - Germline yes - - - - DNA STR, arraySNP, SEQ blood - retinal disease 273-007 PubMed: Thiagalingam 2007 sibling also affected F - - European - - - - 1 LOVD
+?/. - c.1381G>A r.(?) p.(Gly461Arg) Parent #1 - likely pathogenic g.2729470G>A g.2729470G>A KCNV2 c.1381G>A, p.Gly461Arg - KCNV2_000005 heterozygous PubMed: Thiagalingam 2007 - - Germline yes - - - - DNA STR, arraySNP, SEQ blood - retinal disease 273-009 PubMed: Thiagalingam 2007 sibling also affected F - - European - - - - 1 LOVD
+?/. - c.1381G>A r.(?) p.(Gly461Arg) Parent #1 - likely pathogenic g.2729470G>A g.2729470G>A KCNV2 c.1381G>A, p.Gly461Arg - KCNV2_000005 heterozygous PubMed: Thiagalingam 2007 - - Unknown ? - - - - DNA STR, arraySNP, SEQ blood - retinal disease 273-010 PubMed: Thiagalingam 2007 - F - - European - - - - 1 LOVD
+?/. - c.1381G>A r.(?) p.(Gly461Arg) Parent #1 - likely pathogenic g.2729470G>A g.2729470G>A KCNV2 c.1381G>A, p.Gly461Arg - KCNV2_000005 heterozygous PubMed: Thiagalingam 2007 - - Unknown ? - - - - DNA STR, arraySNP, SEQ blood - retinal disease 273-012 PubMed: Thiagalingam 2007 - M - - European - - - - 1 LOVD
+?/. - c.1381G>A r.(?) p.(Gly461Arg) Maternal (confirmed) - likely pathogenic g.2729470G>A g.2729470G>A KCNV2 c.1381G>A, G461R - KCNV2_000005 heterozygous PubMed: BenSalah 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease III-2 PubMed: BenSalah 2008 Family 1 F - - - - - - - 1 LOVD
+?/. - c.1381G>A r.(?) p.(Gly461Arg) Maternal (confirmed) - likely pathogenic g.2729470G>A g.2729470G>A KCNV2 c.1381G>A, G461R - KCNV2_000005 heterozygous PubMed: BenSalah 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease III-3 PubMed: BenSalah 2008 Family 1 F - - - - - - - 1 LOVD
+?/. p.Gly461Arg c.1381G>A r.(?) p.(Gly461Arg) Parent #1 - likely pathogenic g.2729470G>A g.2729470G>A KCNV2 c.1381G->A, p.Gly461Arg, - KCNV2_000005 heterozygous PubMed: Sergouniotis 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease 3 PubMed: Sergouniotis 2011 sibling of 4; previously unreported cases ? - - - - - - - 1 LOVD
+?/. p.Gly461Arg c.1381G>A r.(?) p.(Gly461Arg) Parent #1 - likely pathogenic g.2729470G>A g.2729470G>A KCNV2 c.1381G->A, p.Gly461Arg, - KCNV2_000005 heterozygous PubMed: Sergouniotis 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease 4 PubMed: Sergouniotis 2011 sibling of 3; previously unreported cases ? - - - - - - - 1 LOVD
+?/. - c.1381G>A r.(?) p.(Gly461Arg) Both (homozygous) - likely pathogenic g.2729470G>A g.2729470G>A KCNV2 c.1381G>A, p.Gly461Arg - KCNV2_000005 homozygous PubMed: Wissinger 2011 - - Germline yes - - - - DNA STR, arraySNP, TaqMan, arrayCGH, SEQ blood - retinal disease ZD389_PGS PubMed: Wissinger 2011 - M - - - - - - - 1 LOVD
+?/. - c.1381G>A r.(?) p.(Gly461Arg) Both (homozygous) - likely pathogenic g.2729470G>A g.2729470G>A KCNV2 c.1381G>A, p.Gly461Arg - KCNV2_000005 homozygous PubMed: Wissinger 2011 - - Germline yes - - - - DNA STR, arraySNP, TaqMan, arrayCGH, SEQ blood - retinal disease ZD389_AS PubMed: Wissinger 2011 - F - - - - - - - 1 LOVD
+?/. - c.1381G>A r.(?) p.(Gly461Arg) Parent #2 - likely pathogenic g.2729470G>A g.2729470G>A KCNV2 c.1381G>A, p.Gly461Arg - KCNV2_000005 heterozygous PubMed: Wissinger 2011 - - Germline yes - - - - DNA STR, arraySNP, TaqMan, arrayCGH, SEQ blood - retinal disease ZD220_KW PubMed: Wissinger 2011 - M - - - - - - - 1 LOVD
+?/. - c.1381G>A r.(?) p.(Gly461Arg) Parent #2 - likely pathogenic g.2729470G>A g.2729470G>A KCNV2 c.1381G>A, p.Gly461Arg - KCNV2_000005 heterozygous PubMed: Wissinger 2011 - - Germline yes - - - - DNA STR, arraySNP, TaqMan, arrayCGH, SEQ blood - retinal disease RCD272_RO PubMed: Wissinger 2011 - M - - - - - - - 1 LOVD
+?/. - c.1381G>A r.(?) p.(Gly461Arg) Both (homozygous) - likely pathogenic g.2729470G>A g.2729470G>A KCNV2 c.1381G > A: p.Gly461Arg - KCNV2_000005 homozygous PubMed: Vincent 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease 2 PubMed: Vincent 2013 - M - - white - - - - 1 LOVD
+?/. - c.1381G>A r.(?) p.(Gly461Arg) Both (homozygous) - likely pathogenic g.2729470G>A g.2729470G>A KCNV2 c.1381G > A*: p.Gly461Arg - KCNV2_000005 homozygous PubMed: Vincent 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease 6 PubMed: Vincent 2013 - M - - white - - - - 1 LOVD
+?/. - c.1381G>A r.(?) p.(Gly461Arg) Maternal (confirmed) - likely pathogenic g.2729470G>A g.2729470G>A KCNV2 c.1381G > A: p.Gly461Arg - KCNV2_000005 heterozygous PubMed: Vincent 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease 5 PubMed: Vincent 2013 - M - - Chinese - - - - 1 LOVD
+?/. - c.1381G>A r.(?) p.(Gly461Arg) Paternal (inferred) - likely pathogenic g.2729470G>A g.2729470G>A KCNV2 c.1381G>A - KCNV2_000005 compound heterozygous PubMed: Fujinami 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease 1_1 PubMed: Fujinami 2013 family 1, individual 1 F - Japan Japanese - - - - 1 LOVD
+?/. - c.1381G>A r.(?) p.(Gly461Arg) Paternal (inferred) - likely pathogenic g.2729470G>A g.2729470G>A KCNV2 c.1381G>A - KCNV2_000005 compound heterozygous PubMed: Fujinami 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease 1_2 PubMed: Fujinami 2013 family 1, individual 2 M - Japan Japanese - - - - 1 LOVD
+?/. - c.1381G>A r.(?) p.(Gly461Arg) Paternal (inferred) - likely pathogenic g.2729470G>A g.2729470G>A KCNV2 c.1381G>A - KCNV2_000005 compound heterozygous PubMed: Fujinami 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease 2_3 PubMed: Fujinami 2013 family 2, individual 3 F - Japan Japanese - - - - 1 LOVD
+?/. - c.1381G>A r.(?) p.(Gly461Arg) Both (homozygous) - likely pathogenic g.2729470G>A g.2729470G>A KCNV2 p.Gly461Arg - KCNV2_000005 no nucleotide annotation, extrapolated from protein and databases; homozygous PubMed: Stockman 2014 - - Unknown ? - - - - DNA ? blood retrospective study retinal disease SR4 PubMed: Stockman 2014 - F - - - - - - - 1 LOVD
+/. - c.1381G>A r.(?) p.(Gly461Arg) Parent #1 - pathogenic g.2729470G>A g.2729470G>A KCNV2 c.1381G>A, p.(Gly461Arg) - KCNV2_000005 heterozygous PubMed: Georgiou 2021 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood multiple centers, various techniques retinal disease GC21888_MEH005 PubMed: Georgiou 2021 family GC21888, individual MEH005 M - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.1381G>A r.(?) p.(Gly461Arg) Parent #1 - pathogenic g.2729470G>A g.2729470G>A KCNV2 c.1381G>A, p.(Gly461Arg) - KCNV2_000005 heterozygous PubMed: Georgiou 2021 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood multiple centers, various techniques retinal disease GC26096_MEH023 PubMed: Georgiou 2021 family GC26096, individual MEH023 M - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.1381G>A r.(?) p.(Gly461Arg) Parent #1 - pathogenic g.2729470G>A g.2729470G>A KCNV2 c.1381G>A, p.(Gly461Arg) - KCNV2_000005 heterozygous PubMed: Georgiou 2021 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood multiple centers, various techniques retinal disease GC26620_MEH028 PubMed: Georgiou 2021 family GC26620, individual MEH028 M - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.1381G>A r.(?) p.(Gly461Arg) Parent #1 - pathogenic g.2729470G>A g.2729470G>A KCNV2 c.1381G>A, p.(Gly461Arg) - KCNV2_000005 heterozygous PubMed: Georgiou 2021 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood multiple centers, various techniques retinal disease A1004_A1004 PubMed: Georgiou 2021 family A1004, individual A1004 F - Japan - - - - - 1 LOVD
+/. - c.1381G>A r.(?) p.(Gly461Arg) Both (homozygous) - pathogenic g.2729470G>A g.2729470G>A KCNV2 c.1381G>A, p.(Gly461Arg) - KCNV2_000005 homozygous PubMed: Georgiou 2021 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood multiple centers, various techniques retinal disease CA-07_HSC 08 PubMed: Georgiou 2021 family CA-07, individual HSC 08 M - Canada - - - - - 1 LOVD
+/. - c.1381G>A r.(?) p.(Gly461Arg) Parent #1 - pathogenic g.2729470G>A g.2729470G>A KCNV2 c.1381G>A, p.(Gly461Arg) - KCNV2_000005 heterozygous PubMed: Georgiou 2021 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood multiple centers, various techniques retinal disease MEE05_MEE05 PubMed: Georgiou 2021 family MEE05, individual MEE05 M - United States - - - - - 1 LOVD
+/. - c.1381G>A r.(?) p.(Gly461Arg) Parent #2 - pathogenic g.2729470G>A g.2729470G>A KCNV2 c.1381G>A, p.(Gly461Arg) - KCNV2_000005 heterozygous PubMed: Georgiou 2021 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood multiple centers, various techniques retinal disease GC20307_MEH018 PubMed: Georgiou 2021 family GC20307, individual MEH018 M - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.1381G>A r.(?) p.(Gly461Arg) Parent #2 - pathogenic g.2729470G>A g.2729470G>A KCNV2 c.1381G>A, p.(Gly461Arg) - KCNV2_000005 heterozygous PubMed: Georgiou 2021 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood multiple centers, various techniques retinal disease GC16701_MEH030 PubMed: Georgiou 2021 family GC16701, individual MEH030 M - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.1381G>A r.(?) p.(Gly461Arg) Parent #2 - pathogenic g.2729470G>A g.2729470G>A KCNV2 c.1381G>A, p.(Gly461Arg) - KCNV2_000005 heterozygous PubMed: Georgiou 2021 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood multiple centers, various techniques retinal disease GC20796_MEH046 PubMed: Georgiou 2021 family GC20796, individual MEH046 M - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.1381G>A r.(?) p.(Gly461Arg) Parent #2 - pathogenic g.2729470G>A g.2729470G>A KCNV2 c.1381G>A, p.(Gly461Arg) - KCNV2_000005 heterozygous PubMed: Georgiou 2021 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood multiple centers, various techniques retinal disease GC20796_MEH047 PubMed: Georgiou 2021 family GC20796, individual MEH047 M - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.1381G>A r.(?) p.(Gly461Arg) Parent #2 - pathogenic g.2729470G>A g.2729470G>A KCNV2 c.1381G>A, p.(Gly461Arg) - KCNV2_000005 heterozygous PubMed: Georgiou 2021 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood multiple centers, various techniques retinal disease ZD 546_ZD546-25834 PubMed: Georgiou 2021 family ZD 546, individual ZD546-25834 M - Germany - - - - - 1 LOVD
+/. - c.1381G>A r.(?) p.(GIy461Arg) Parent #2 - pathogenic g.2729470G>A g.2729470G>A KCNV2 c.1381G>A, p.(GIy461Arg) - KCNV2_000005 heterozygous PubMed: Georgiou 2021 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood multiple centers, various techniques retinal disease LUMC1_LUMC001 PubMed: Georgiou 2021 family LUMC1, individual LUMC001 M - Netherlands - - - - - 1 LOVD
+/. - c.1381G>A r.(?) p.(GIy461Arg) Parent #2 - pathogenic g.2729470G>A g.2729470G>A KCNV2 c.1381G>A, p.(GIy461Arg) - KCNV2_000005 heterozygous PubMed: Georgiou 2021 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood multiple centers, various techniques retinal disease LUMC1_LUMC002 PubMed: Georgiou 2021 family LUMC1, individual LUMC002 F - Netherlands - - - - - 1 LOVD
+/. - c.1381G>A r.(?) p.(Gly461Arg) Parent #2 - pathogenic g.2729470G>A g.2729470G>A KCNV2 c.1381G>A, p.(Gly461Arg) - KCNV2_000005 heterozygous PubMed: Georgiou 2021 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood multiple centers, various techniques retinal disease CEI-P1_CEI-05 PubMed: Georgiou 2021 family CEI-P1, individual CEI-05 F - United States - - - - - 1 LOVD
+/. 2 c.1381G>A r.(?) p.(Gly461Arg) Parent #1 ACMG pathogenic g.2729470G>A g.2729470G>A - - KCNV2_000005 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 071497 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.