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.

532 entries on 6 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.(?_-214)_(1356+1)_(1357-1)del r.(?) Exon 1 Deletion Both (homozygous) - likely pathogenic g.(?_2717526)_(2719096_2729445)del g.(?_2717526)_(2719096_2729445)del KCNV2 c.(?_-214)_1356+?, Exon 1 Deletion - PTCH1_000000 homozygous PubMed: Georgiou 2021 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood multiple centers, various techniques retinal disease ERA02_AAHJT02 PubMed: Georgiou 2021 family ERA02, individual AAHJT02 M - Netherlands - - - - - 1 LOVD
+?/. - c.(?_-214)_(1356+1)_(1357-1)del r.0? p.0? Parent #2 - likely pathogenic g.(?_2717526)_(2719096_2729445)del g.(?_2717526)_(2719096_2729445)del KCNV2 c.(?_-214)_1356+?, Exon 1 Del - PTCH1_000000 heterozygous PubMed: Georgiou 2021 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood multiple centers, various techniques retinal disease ZD 599_ZD599-29894 PubMed: Georgiou 2021 family ZD 599, individual ZD599-29894 F - Germany - - - - - 1 LOVD
+?/. 11i c.(?_273)_(*64_?)del r.? p.(Pro92Ilefs*3) Parent #2 ACMG likely pathogenic g.(?_2718012)_(2729791_?)del - c.(273_*64)del - KCNV2_000229 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 067121 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+?/. - c.{0} r.0 p.0 Parent #1 - likely pathogenic g.(?_2717739)_(2729728_?)del g.(?_2717739)_(2729728_?)del g.2717689_2729777del - KCNV2_000159 - PubMed: Ellingford 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease 15005719 PubMed: Ellingford 2017 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
./. - c.-2513636_*5469272del r.0? p.0? Unknown - pathogenic g.204104_8198999del g.204104_8198999del - - GLDC_000111 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected mother/child F - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
+/. 1_2 c.-147144_*77686del r.(?) p.? Unknown - pathogenic g.2570596_2807413del - g.2570596_2807413del - KCNV2_000112 - PubMed: Thiadens_2012 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Thiadens_2012 - - no - - - - - - 1 LOVD
+?/. - c.-11101_1356+4531del r.? p.? Parent #2 - likely pathogenic g.2706639_2723626del g.? KCNV2 deletion confirmed by TaqMan - KCNV2_000169 heterozygous; described also in {PMID:Wissinger 2011:21882291}, deletion boundaries marked, "exon 1+" g.2696639_2713626del in hg18 PubMed: Wissinger 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease 14594_PWS PubMed: Wissinger 2008 described also in PubMed: Wissinger 2011, deletion boundaries M - - - - - - - 1 LOVD
+?/. 1_2 c.-759_*57289del r.(?) p.? Parent #1 - likely pathogenic g.2716981_2787016del - g.2716981_2787016del - KCNV2_000149 - PubMed: Maggi_2021 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - F - Switzerland - - - - - 1 LOVD
+?/. - c.(?_-214)_(1356+1_1357-1)del r.spl p.(?) Parent #1 - likely pathogenic g.? g.? KCNV2, variant 1: c.1186G>T/p.G396* , variant 2 :Deletion exon 1 - PTCH1_000000 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 1034 PubMed: Weisschuh 2020 Filing key number: 599, cone dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
?/. - c.(?_-214)_(*310_?)del r.spl p.(?) Both (homozygous) - VUS g.? g.? KCNV2 nucleotide 1, protein 1:whole gene del, confirmed by TaqMan qPCR - PTCH1_000000 homozygous, ACMG unclassified - no access to supplementary table 2 PubMed: Hull 2020 - - Germline ? - - - - DNA ? blood NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families retinal disease 55 PubMed: Hull 2020 - ? - New Zealand Middle Eastern - - - - 1 LOVD
-/. - c.-64T>G r.(?) p.(=) Unknown - benign g.2717676T>G g.2717676T>G - - KCNV2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-42C>G r.(?) p.(=) Unknown - benign g.2717698C>G g.2717698C>G - - KCNV2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-15C>T r.(?) p.(=) Unknown - benign g.2717725C>T g.2717725C>T KCNV2(NM_133497.4):c.-15C>T - KCNV2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.-2C>T r.(=) p.(=) Unknown - likely pathogenic g.2717738C>T - c.-2C>T - KCNV2_000137 - PubMed: Song-2011 - rs75316505 Unknown - - - - - DNA arraySEQ, PCR blood - retinal disease - PubMed: Song-2011 - F - - - - - - - 1 LOVD
-?/. - c.-2C>T r.(?) p.(=) Unknown - likely benign g.2717738C>T - KCNV2(NM_133497.4):c.-2C>T - KCNV2_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.0 r.0 p.0 Both (homozygous) - pathogenic g.2673984_2766722del g.2673984_2766722del KCNV2 whole gene deletion - KCNV2_000171 homozygous PubMed: Grigg 2013 - - Germline yes - - - - DNA arrayCGH, TaqMan, PCR, SEQ blood - retinal disease ? PubMed: Grigg 2013 parents are first cousins of Lebanese ancestry M yes Australia Lebanese - - - - 1 LOVD
+?/. - c.0? r.0? p.0? Maternal (confirmed) - likely pathogenic g.2667638_2747340del g.2667638_2747340del KCNV2 D4: g.2657638_2737340del - KCNV2_000171 heterozygous PubMed: Wissinger 2011 - - Germline yes - - - - DNA STR, arraySNP, TaqMan, arrayCGH, SEQ blood - retinal disease CHRO8_VH PubMed: Wissinger 2011 - F - - - - - - - 1 LOVD
+?/. - c.0? r.0? p.0? Maternal (confirmed) - likely pathogenic g.2667638_2747340del g.2667638_2747340del KCNV2 D4: g.2657638_2737340del - KCNV2_000171 heterozygous PubMed: Wissinger 2011 - - Germline yes - - - - DNA STR, arraySNP, TaqMan, arrayCGH, SEQ blood - retinal disease CHRO8_MAH PubMed: Wissinger 2011 - M - - - - - - - 1 LOVD
+?/. - c.0? r.0? p.0? Paternal (confirmed) - likely pathogenic g.2580596_2817413del g.2580596_2817413del KCNV2 D5: g.2570596_2807413del - KCNV2_000171 heterozygous PubMed: Wissinger 2011 - - Germline yes - - - - DNA STR, arraySNP, TaqMan, arrayCGH, SEQ blood - retinal disease CHRO158_W07-1637 PubMed: Wissinger 2011 - F - - - - - - - 1 LOVD
+?/. - c.0? r.0? p.0? Both (homozygous) - likely pathogenic g.? g.? KCNV2 complete homozygous deletion - PTCH1_000000 homozygous PubMed: Kiray 2020 - - Germline yes - - - - DNA SEQ, PCRq - - retinal disease 1_IV:1 PubMed: Kiray 2020 Family 1; pseudodominant inheritance due to multiple consanguineous marriages M yes - Egyptian - - - - 1 LOVD
+?/. - c.0? r.0? p.0? Both (homozygous) - likely pathogenic g.? g.? KCNV2 complete homozygous deletion - PTCH1_000000 homozygous PubMed: Kiray 2020 - - Germline yes - - - - DNA SEQ, PCRq - - retinal disease 1_V:1 PubMed: Kiray 2020 Family 1; pseudodominant inheritance due to multiple consanguineous marriages M yes - Egyptian - - - - 1 LOVD
+?/. - c.0? r.0? p.0? Both (homozygous) - likely pathogenic g.? g.? KCNV2 complete homozygous deletion - PTCH1_000000 homozygous PubMed: Kiray 2020 - - Germline yes - - - - DNA SEQ, PCRq - - retinal disease 1_V:3 PubMed: Kiray 2020 Family 1; pseudodominant inheritance due to multiple consanguineous marriages F yes - Egyptian - - - - 1 LOVD
+?/. - c.0? r.0? p.0? Both (homozygous) - likely pathogenic g.? g.? KCNV2 complete homozygous deletion - PTCH1_000000 homozygous PubMed: Kiray 2020 - - Germline yes - - - - DNA SEQ, PCRq - - retinal disease 1_V:4 PubMed: Kiray 2020 Family 1; pseudodominant inheritance due to multiple consanguineous marriages F yes - Northern Iraqi - - - - 1 LOVD
+?/. - c.0? r.0 p.0 Both (homozygous) - likely pathogenic g.2670960_2783870del g.2670960_2783870del KCNV2 NC_000009.11:g.2670960_2783870del, Whole Gene Deletion - KCNV2_000171 homozygous PubMed: Georgiou 2021 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood multiple centers, various techniques retinal disease GC26805_MEH034 PubMed: Georgiou 2021 family GC26805, individual MEH034 F - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. 1 c.? r.(?) p.? Unknown - pathogenic g.2718754_2718763delACCTGGTGG - 1015–1024delACCTGGTGG - KCNV2_000125 - PubMed: robson-2010 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: robson-2010 - F - - - - - - - 1 LOVD
+/. 1 c.? r.(?) p.? Unknown - pathogenic g.2718169C>T - C430T - KCNV2_000125 - PubMed: robson-2010 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: robson-2010 - F - - - - - - - 1 LOVD
+?/. - c.? r.? p.? Both (homozygous) ACMG likely pathogenic (recessive) g.2719299_2730682del - - - KCNV2_000125 ACMG PM2, PVS1 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? MISC-262 PubMed: Weisschuh 2024 family, 2 affected F - Germany - - - - - 2 Johan den Dunnen
+?/. - c.? r.? p.? Unknown ACMG likely pathogenic (recessive) g.2667638_2747340del - - - KCNV2_000171 ACMG PM2, PVS1 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CD-395 PubMed: Weisschuh 2024 family, 2 affected M - Germany - - - - - 2 Johan den Dunnen
+?/. - c.1A>G r.(?) p.(Met1?) Parent #1 - likely pathogenic g.2717740A>G g.2717740A>G KCNV2 c.1A>G, p.(Met1?) - KCNV2_000205 heterozygous PubMed: Georgiou 2021 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood multiple centers, various techniques retinal disease GC19701_MEH006 PubMed: Georgiou 2021 family GC19701, individual MEH006 F - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. 1_1i c.(-230_1)_(1356+1_1357-1)del r.0? p.(Met1?) Parent #2 ACMG pathogenic g.(2717510_2717739)_(2719096_2729445)del - - - KCNV2_000228 - 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
+?/. - c.(-230_1)_(1356+1_1357-1)del r.? p.0? Unknown ACMG likely pathogenic g.(2717510_2717739)_(2719096_2729445)del - - - KCNV2_000228 no variant 2nd chromosome, case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 066657 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
+/. - c.6_9del r.(?) p.(Lys3Argfs*96) Unknown - pathogenic (recessive) g.2717745_2717748del - 9:2717744TCAAA>T ENST00000382082.3:c.8_11delAACA (Lys3ArgfsTer96) - KCNV2_000098 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G005209 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. 1 c.6_9delCAAA r.(?) p.(Lys3Argfs*96) Unknown - pathogenic g.2717745_2717748delCAAA - c.6_9delCAAA - KCNV2_000113 normal 2nd chromosome PubMed: Thiadens_2012 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Thiadens_2012 - - no - - - - - - 1 LOVD
+/. 1 c.7A>T r.(?) p.(Lys3*) Unknown - pathogenic g.2717746A>T - A7T - KCNV2_000122 - PubMed: robson-2010 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: robson-2010 - M - - - - - - - 1 LOVD
+?/. - c.7A>T r.(?) p.(Lys3*) Both (homozygous) - likely pathogenic g.2717746A>T g.2717746A>T KCNV2 A7T, Lys3Stop - KCNV2_000122 homozygous; also heterozygous for L533V PubMed: Wu 2006 - - Unknown ? - - - - DNA SEQ blood - retinal disease 4 PubMed: Wu 2006 - - - United Kingdom (Great Britain) British - - - - 1 LOVD
+?/. - c.7A>T r.(?) p.(Lys3*) Both (homozygous) - likely pathogenic g.2717746A>T g.2717746A>T KCNV2 p.Lys3X - KCNV2_000122 no nucleotide annotation, extrapolated from protein and databases; homozygous PubMed: Stockman 2014 - - Unknown ? - - - - DNA ? blood retrospective study retinal disease SR1 PubMed: Stockman 2014 - M - - - - - - - 1 LOVD
+/. - c.8_11del r.(?) p.(Lys3Argfs*96) Parent #1 - pathogenic g.2717747_2717750del g.2717747_2717750del 8_11delAACA - KCNV2_000002 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease 3470 PubMed: Zenteno 2020 family - - Mexico - - - - - 1 Johan den Dunnen
+/. - c.8_11del r.(?) p.(Lys3Argfs*96) Unknown - pathogenic g.2717747_2717750del g.2717747_2717750del KCNV2 c.8_11delAACA, p.Lys3ArgfsTer96 - KCNV2_000002 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G005209 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. 1,2 c.8_11del r.(?) p.(Lys3Argfs*96) Unknown - likely pathogenic g.2717747_2717750del g.2717747_2717750del KCNV2 c.8_11del c.1381G>A, p.Lys3Argfs*96 p.Gly461Arg - KCNV2_000002 heterozygous PubMed: Gliem 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease 135 PubMed: Gliem 2020 - M - (Germany) - - - - - 1 LOVD
+?/. - c.8_11del r.(?) p.(Lys3Argfs*96) Parent #1 - likely pathogenic g.2717747_2717750del g.2717747_2717750del KCNV2 c.8_11del4, p.Lys3ArgfsX29 - KCNV2_000002 heterozygous PubMed: Zobor 2012 - - Germline yes - - - - DNA SEQ blood - retinal disease BCM5 PubMed: Zobor 2012 - M - Germany German - - - - 1 LOVD
+?/. - c.8_11del r.(?) p.(Lys3Argfs*96) Parent #2 - likely pathogenic g.2717747_2717750del g.2717747_2717750del KCNV2 c.8_11delAACA - KCNV2_000002 no protein annotation, extrapolated from nucleotide; heterozygous PubMed: Stockman 2014 - - Unknown ? - - - - DNA ? blood retrospective study retinal disease SR5 PubMed: Stockman 2014 - F - - - - - - - 1 LOVD
+/. - c.8_11del r.(?) p.(Lys3ArgfsTer96) Unknown ACMG pathogenic (recessive) g.2717747_2717750del g.2717747_2717750del - - KCNV2_000002 ACMG PM2, PVS1, PP5, PS4 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CD-595 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+/. - c.8_11del r.(?) p.(Lys3ArgfsTer96) Unknown ACMG pathogenic (recessive) g.2717747_2717750del g.2717747_2717750del - - KCNV2_000002 ACMG PM2, PVS1, PP5, PS4 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CD-631-1 PubMed: Weisschuh 2024 family, 2 affected M - Germany - - - - - 2 Johan den Dunnen
+/. - c.8_11del r.(?) p.(Lys3ArgfsTer96) Unknown ACMG pathogenic (recessive) g.2717747_2717750del g.2717747_2717750del - - KCNV2_000002 ACMG PM2, PVS1, PP5, PS4 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CD-631-2 PubMed: Weisschuh 2024 family, 2 affected M - Germany - - - - - 2 Johan den Dunnen
+?/. - c.8_11del4 r.(?) p.(Lys3Argfs*96) Parent #1 - likely pathogenic g.2717747_2717750del g.2717747_2717750del KCNV2 c.8_11del4, p.Lys3ArgfsX96 - KCNV2_000002 heterozygous PubMed: Wissinger 2011 - - Germline yes - - - - DNA STR, arraySNP, TaqMan, arrayCGH, SEQ blood - retinal disease ZD164_AS PubMed: Wissinger 2011 - M - - - - - - - 1 LOVD
+?/. - c.8_11del4 r.(?) p.(Lys3Argfs*96) Parent #1 - likely pathogenic g.2717747_2717750del g.2717747_2717750del KCNV2 c.8_11del4, p.Lys3ArgfsX96 - KCNV2_000002 heterozygous PubMed: Wissinger 2011 - - Germline yes - - - - DNA STR, arraySNP, TaqMan, arrayCGH, SEQ blood - retinal disease CHRO450_LK PubMed: Wissinger 2011 - M - - - - - - - 1 LOVD
+?/. - c.8_11del4 r.(?) p.(Lys3Argfs*96) Maternal (confirmed) - likely pathogenic g.2717747_2717750del g.2717747_2717750del KCNV2 c.8_11del4, p.Lys3ArgfsX96 - KCNV2_000002 heterozygous PubMed: Wissinger 2011 - - Germline yes - - - - DNA STR, arraySNP, TaqMan, arrayCGH, SEQ blood - retinal disease RCD382_MB PubMed: Wissinger 2011 - M - - - - - - - 1 LOVD
+/. - c.8_11delAACA r.(?) p.(Lys3Argfs*96) Both (homozygous) - pathogenic g.2717747_2717750del g.2717747_2717750del KCNV2 c.8_11delAACA, p.(Lys3Argfs*96) - KCNV2_000002 homozygous PubMed: Georgiou 2021 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood multiple centers, various techniques retinal disease CA-08_HSC 09 PubMed: Georgiou 2021 family CA-08, individual HSC 09 M - Canada - - - - - 1 LOVD
+/. - c.8_11delAACA r.(?) p.(Lys3Argfs*96) Parent #2 - pathogenic g.2717747_2717750del g.2717747_2717750del KCNV2 c.8_11delAACA, p.(Lys3Argfs*96) - KCNV2_000002 heterozygous PubMed: Georgiou 2021 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood multiple centers, various techniques retinal disease GC18957_MEH007 PubMed: Georgiou 2021 family GC18957, individual MEH007 F - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.19_1356+9571delinsCATTTG r.(?) p.(Arg7Hisfs*57) Both (homozygous) - likely pathogenic g.2717758_2728666delinsCATTTG g.2717758_2728666delinsCATTTG KCNV2 D1: c.19_1356+9571delinsCATTTG, p.Arg7HisfsX57 - KCNV2_000172 homozygous PubMed: Wissinger 2011 - - Germline yes - - - - DNA STR, arraySNP, TaqMan, arrayCGH, SEQ blood - retinal disease RCD307_HPM PubMed: Wissinger 2011 - M - - - - - - - 1 LOVD
+?/. - c.19_1356+9571delinsCATTTG r.(?) p.? Both (homozygous) - likely pathogenic g.2717758_2728666delinsCATTTG g.2717758_2728666delinsCATTTG KCNV2 D1: c.19_1356+9571delinsCATTTG, p.Arg7HisfsX57 - KCNV2_000172 homozygous PubMed: Wissinger 2011 - - Germline yes - - - - DNA STR, arraySNP, TaqMan, arrayCGH, SEQ blood - retinal disease CHRO417_BS PubMed: Wissinger 2011 - F - - - - - - - 1 LOVD
-?/. - c.58G>A r.(?) p.(Glu20Lys) Unknown - likely benign g.2717797G>A - KCNV2(NM_133497.4):c.58G>A (p.E20K) - KCNV2_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.76C>T r.(?) p.(His26Tyr) Unknown - VUS g.2717815C>T g.2717815C>T KCNV2(NM_133497.3):c.76C>T (p.H26Y) - KCNV2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.80G>A r.(?) p.(Arg27His) Unknown - benign g.2717819G>A g.2717819G>A KCNV2(NM_133497.4):c.80G>A (p.R27H) - KCNV2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.80G>A r.(?) p.(Arg27His) Unknown - likely benign g.2717819G>A g.2717819G>A - - KCNV2_000072 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.022 - - - DNA SEQ, SEQ-NG - 105 WGS/200 WES Healthy/Control - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - - - - 1 Global Variome, with Curator vacancy
+/. - c.80G>A r.(?) p.(Arg27His) Unknown - pathogenic g.2717819G>A g.2717819G>A c.80G>A, p.(Arg27His) - KCNV2_000072 compound heterozygous PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 14489 PubMed: Wang 2019 - F - China - - - - - 1 LOVD
+?/. - c.80G>A r.(?) p.(Arg27His) Both (homozygous) - likely pathogenic g.2717819G>A g.2717819G>A KCNV2 c.80G>A - KCNV2_000072 complex homozygous PubMed: Fujinami 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease 3_4 PubMed: Fujinami 2013 family 3, individual 4 F - Japan Japanese - - - - 1 LOVD
?/. - c.95C>G r.(?) p.(Ser32Cys) Unknown - VUS g.2717834C>G - KCNV2(NM_133497.3):c.95C>G (p.S32C) - KCNV2_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.130C>T r.(?) p.(His44Tyr) Unknown - likely benign g.2717869C>T g.2717869C>T KCNV2(NM_133497.3):c.130C>T (p.H44Y) - KCNV2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.132C>T r.(?) p.(His44=) Unknown - benign g.2717871C>T g.2717871C>T KCNV2(NM_133497.4):c.132C>T (p.H44=) - KCNV2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.133G>A r.(?) p.(Gly45Ser) Unknown - VUS g.2717872G>A - c.133G>A - KCNV2_000160 - PubMed: Borràs 2013 - - Germline no Novel - - - DNA SEQ-NG, SEQ blood - retinal disease RP-83 PubMed: Borràs 2013 - - - Spain Spanish - - - - 1 LOVD
+?/. - c.137G>A r.(?) p.(Trp46*) Unknown - likely pathogenic g.2717876G>A g.2717876G>A KCNV2 p.W46X:c.137G>A - KCNV2_000173 compound heterozygous PubMed: Lenis 2013 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Lenis 2013 - M - United States - - - - - 1 LOVD
?/. - c.142G>A r.(?) p.(Glu48Lys) Unknown - VUS g.2717881G>A g.2717881G>A KCNV2(NM_133497.4):c.142G>A (p.E48K) - KCNV2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.144G>A r.(?) p.(Glu48=) Unknown - likely benign g.2717883G>A - KCNV2(NM_133497.4):c.144G>A (p.E48=) - KCNV2_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.159C>G r.(?) p.(Tyr53*) Both (homozygous) - VUS g.2717898C>G - c.159C>G - KCNV2_000120 - PubMed: Abu-Safieh-2013 - - Germline - - - - - DNA SEQ-NG blood autozygome-guided sequencing retinal disease - PubMed: Abu-Safieh-2013 - - - Saudi Arabia - - - - - 3 LOVD
+?/. - c.159C>G r.(?) p.(Tyr53*) Both (homozygous) - likely pathogenic g.2717898C>G g.2717898C>G KCNV2 c.159C>G (p.Y53X) - KCNV2_000120 homozygous PubMed: Khan 2012 - - Germline yes - - - - DNA SEQ blood - retinal disease 1 PubMed: Khan 2012 sister of patient 2 F yes Saudi Arabia - - - - - 1 LOVD
+?/. - c.159C>G r.(?) p.(Tyr53*) Both (homozygous) - likely pathogenic g.2717898C>G g.2717898C>G KCNV2 c.159C>G (p.Y53X) - KCNV2_000120 homozygous PubMed: Khan 2012 - - Germline yes - - - - DNA SEQ blood - retinal disease 2 PubMed: Khan 2012 sister of patient 1 F yes Saudi Arabia - - - - - 1 LOVD
+?/. - c.159C>G r.(?) p.Tyr53* Both (homozygous) - likely pathogenic g.2717898C>G g.2717898C>G KCNV2 c.159C>G, p.Tyr53* - KCNV2_000120 homozygous PubMed: Abdelkader 2020 - - Germline yes - - - - DNA SEQ blood gene panel testing and exome sequencing retinal disease 4 PubMed: Abdelkader 2020 - M yes Saudi Arabia - - - - - 1 LOVD
+/. - c.162C>A r.(?) p.(Tyr54Ter) Unknown - pathogenic g.2717901C>A g.2717901C>A - - KCNV2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.162C>A r.(?) p.(Tyr54*) Both (homozygous) - VUS g.2717901C>A - c.162C>A - KCNV2_000026 - PubMed: Littink 2010 - - Unknown - - - - - DNA SEQ - - retinal disease - PubMed: Littink 2010 - - yes Netherlands Moroccan - - - - 1 LOVD
-/. - c.168G>A r.(?) p.(Glu56=) Unknown - benign g.2717907G>A g.2717907G>A KCNV2(NM_133497.4):c.168G>A (p.E56=) - KCNV2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.183C>G r.(?) p.(Gly61=) Unknown - benign g.2717922C>G g.2717922C>G - - KCNV2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.183_185del r.(?) p.(Glu64del) Unknown ACMG VUS g.2717922_2717924del g.2717922_2717924del KCNV2:NM_133497 c.183_185del, p.E64del - KCNV2_000146 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-309 PubMed: Rodriguez-Munoz 2020 family fRPN-147, proband F - Spain - - - - - 1 LOVD
?/. - c.193G>A r.(?) p.(Asp65Asn) Unknown - VUS g.2717932G>A g.2717932G>A KCNV2(NM_133497.3):c.193G>A (p.D65N) - KCNV2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.200G>A r.(?) p.(Trp67*) Unknown ACMG pathogenic g.2717939G>A g.2717939G>A KCNV2 c.200G>A(;)1348T>G, V1: c.200G>A, (p.Trp67Ter) - KCNV2_000157 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F077 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+?/. 1 c.200G>A r.(?) p.(Trp67*) Paternal (confirmed) - likely pathogenic g.2717939G>A g.2717939G>A KCNV2 c.G200A (p.W67X) - KCNV2_000157 heterozygous PubMed: Kutsuma 2019 - - Germline yes - - - - DNA SEQ blood whole-exome sequencing retinal disease ? PubMed: Kutsuma 2019 - F - - - - - - - 1 LOVD
+/. - c.200G>A r.(?) p.(Trp67Ter) Unknown - pathogenic g.2717939G>A g.2717939G>A KCNV2 c.200G>A(;)1348T>G; p.(Trp67Ter) - KCNV2_000157 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0.00000398 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F077 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
-?/. - c.207C>T r.(?) p.(Asp69=) Unknown - likely benign g.2717946C>T g.2717946C>T KCNV2(NM_133497.3):c.207C>T (p.D69=) - KCNV2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.217G>T r.(?) p.(Glu73*) Parent #1 - likely pathogenic g.2717956G>T g.2717956G>T KCNV2 c.217G>T, p.E73X - KCNV2_000174 heterozygous PubMed: Wissinger 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease 14588_GD PubMed: Wissinger 2008 - M - - - - - - - 1 LOVD
?/. - c.221A>G r.(?) p.(Glu74Gly) Unknown - VUS g.2717960A>G g.2717960A>G KCNV2(NM_133497.3):c.221A>G (p.E74G) - KCNV2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.224_230delACCAGCA r.(?) p.(Asp75Glyfs*23) Both (homozygous) - pathogenic g.2717963_2717969del g.2717963_2717969del KCNV2 c.224_230delACCAGCA, p.(Asp75Glyfs*23) - KCNV2_000206 homozygous PubMed: Georgiou 2021 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood multiple centers, various techniques retinal disease GC20527_MEH017 PubMed: Georgiou 2021 family GC20527, individual MEH017 F - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.226C>T r.(?) p.(Gln76*) Both (homozygous) - likely pathogenic g.2717965C>T g.2717965C>T KCNV2 c.226C>T, p.Q76X - KCNV2_000175 homozygous PubMed: Wissinger 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease 12357_IRN PubMed: Wissinger 2008 sibling of 16386_IHN and 16450_IHM M - - - - - - - 1 LOVD
+?/. - c.226C>T r.(?) p.(Gln76*) Both (homozygous) - likely pathogenic g.2717965C>T g.2717965C>T KCNV2 c.226C>T, p.Q76X - KCNV2_000175 homozygous PubMed: Wissinger 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease 16386_IHN PubMed: Wissinger 2008 sibling of 12357_IRN and 16450_IHM M - - - - - - - 1 LOVD
+?/. - c.226C>T r.(?) p.(Gln76*) Both (homozygous) - likely pathogenic g.2717965C>T g.2717965C>T KCNV2 c.226C>T, p.Q76X - KCNV2_000175 homozygous PubMed: Wissinger 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease 16450_IHM PubMed: Wissinger 2008 sibling of 12357_IRN and 16386_IHN M - - - - - - - 1 LOVD
+?/. - c.238G>T r.(?) p.(Glu80*) Both (homozygous) - likely pathogenic g.2717977G>T g.2717977G>T KCNV2 c.238G > T*: p.Glu80Stop - KCNV2_000176 homozygous PubMed: Vincent 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease 3 PubMed: Vincent 2013 brother of 4 M yes - Palestinian - - - - 1 LOVD
+?/. - c.238G>T r.(?) p.(Glu80*) Both (homozygous) - likely pathogenic g.2717977G>T g.2717977G>T KCNV2 c.238G > T*: p.Glu80Stop - KCNV2_000176 homozygous PubMed: Vincent 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease 4 PubMed: Vincent 2013 brother of 3 M yes - Palestinian - - - - 1 LOVD
?/. 1 c.240G>T r.(?) p.(Glu80Asp) Both (homozygous) - VUS g.2717979G>T - c.240G>T - KCNV2_000121 - PubMed: Abu-Safieh-2013 - - Germline - - - - - DNA SEQ-NG blood autozygome-guided sequencing retinal disease - PubMed: Abu-Safieh-2013 - - - Saudi Arabia - - - - - 3 LOVD
+?/. - c.240G>T r.(?) p.(Glu80Asp) Both (homozygous) - likely pathogenic g.2717979G>T g.2717979G>T KCNV2 c.240 G>T (p.E80D) - KCNV2_000121 homozygous PubMed: Khan 2012 - - Germline yes - - - - DNA SEQ blood - retinal disease 8 PubMed: Khan 2012 - M yes Saudi Arabia - - - - - 1 LOVD
-/. - c.249C>T r.(?) p.(Thr83=) Unknown - benign g.2717988C>T g.2717988C>T KCNV2(NM_133497.4):c.249C>T (p.T83=) - KCNV2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.258C>G r.(?) p.(Pro86=) Unknown - likely benign g.2717997C>G g.2717997C>G KCNV2(NM_133497.3):c.258C>G (p.P86=), KCNV2(NM_133497.4):c.258C>G (p.P86=) - KCNV2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.258C>G r.(?) p.(Pro86=) Unknown - likely benign g.2717997C>G - KCNV2(NM_133497.3):c.258C>G (p.P86=), KCNV2(NM_133497.4):c.258C>G (p.P86=) - KCNV2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.259_266dup r.(?) p.(Ser90ArgfsTer13) Parent #1 - VUS g.2717998_2718005dup g.2717998_2718005dup 254_255insGCCCGAGG - KCNV2_000107 - PubMed: Wang 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 134 PubMed: Wang 2015 index case - - China - - - - - 1 LOVD
+/. 1 c.263G>A r.(?) p.(Gly88Asp) Unknown - pathogenic g.2718002G>A - c.263G>A - KCNV2_000114 normal 2nd chromosome PubMed: Thiadens_2012 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Thiadens_2012 - - no - - - - - - 1 LOVD
-?/. - c.291C>T r.(?) p.(Ser97=) Unknown - likely benign g.2718030C>T g.2718030C>T KCNV2(NM_133497.3):c.291C>T (p.S97=) - KCNV2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.291_292ins[105_223;TCACCACCACCTT;231_291] r.(?) p.(Thr98fs) Maternal (confirmed) - pathogenic (recessive) g.2718030_2718031ins[2717844_2717962;TCACCACCACCTT;2717970_2718030] g.2718030_2718031ins[2717844_2717962;TCACCACCACCTT;2717970_2718030] chr9:2717844-2718028dup;222_232delinsGGTCACCACCACCTTGG - KCNV2_000097 delins combined with duplication including delins PubMed: Carss 2017 - - Uniparental disomy, maternal allele - - - - - DNA SEQ-NG - WGS retinal disease W000170 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.291_292ins[105_223;TCACCACCACCTT;231_291] r.(?) p.(Thr98fs) Maternal (confirmed) - pathogenic (recessive) g.2718030_2718031ins[2717844_2717962;TCACCACCACCTT;2717970_2718030] g.2718030_2718031ins[2717844_2717962;TCACCACCACCTT;2717970_2718030] chr9:2717844-2718028dup;222_232delinsGGTCACCACCACCTTGG - KCNV2_000097 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease W000170 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
-?/. - c.312T>C r.(?) p.(Gly104=) Unknown - likely benign g.2718051T>C g.2718051T>C KCNV2(NM_133497.3):c.312T>C (p.G104=), KCNV2(NM_133497.4):c.312T>C (p.G104=) - KCNV2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.312T>C r.(?) p.(Gly104=) Unknown - likely benign g.2718051T>C - KCNV2(NM_133497.3):c.312T>C (p.G104=), KCNV2(NM_133497.4):c.312T>C (p.G104=) - KCNV2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.323_329del r.(?) p.(Tyr108TrpfsTer14) Unknown - pathogenic g.2718062_2718068del g.2718062_2718068del - - KCNV2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.323_329del7 r.(?) p.(Tyr108Trpfs*14) Unknown - pathogenic g.2718062_2718068del7 - c.323_329del7 - KCNV2_000115 - PubMed: Thiadens_2012 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Thiadens_2012 - - no - - - - - - 1 LOVD
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