Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_133497.3(KCNV2):c.8_11delAACA (p.Lys3Argfs) | 169522 | KCNV2 | Pathogenic | 786205121 | RCV000033031; | N | MedGen:C1835897,OMIM:610356,ORPHA:209932 | 9 | 2717747 | 2717750 | NM_133497.3:c.8_11delAACA | NP_598004.1:p.Lys3Argfs | NC_000009.11:g.2717747_2717750delAACA | OMIM Allelic Variant:607604.0011 | C1835897 610356 Retinal cone dystrophy 3B | | |
NM_133497.3(KCNV2):c.226C>T (p.Gln76Ter) | 169522 | KCNV2 | Pathogenic | 387907302 | RCV000030811; | N | MedGen:C1835897,OMIM:610356,ORPHA:209932 | 9 | 2717965 | 2717965 | NM_133497.3:c.226C>T | NP_598004.1:p.Gln76Ter | NC_000009.11:g.2717965C>T | OMIM Allelic Variant:607604.0008 | C1835897 610356 Retinal cone dystrophy 3B | | |
NM_133497.3(KCNV2):c.427G>T (p.Glu143Ter) | 169522 | KCNV2 | Pathogenic | 104894113 | RCV000003146; | N | MedGen:C1835897,OMIM:610356,ORPHA:209932 | 9 | 2718166 | 2718166 | NM_133497.3:c.427G>T | NP_598004.1:p.Glu143Ter | NC_000009.11:g.2718166G>T | OMIM Allelic Variant:607604.0001 | C1835897 610356 Retinal cone dystrophy 3B | | |
NM_133497.3(KCNV2):c.442G>T (p.Glu148Ter) | 169522 | KCNV2 | Pathogenic | 140256288 | RCV000033032; | N | MedGen:C1835897,OMIM:610356,ORPHA:209932 | 9 | 2718181 | 2718181 | NM_133497.3:c.442G>T | NP_598004.1:p.Glu148Ter | NC_000009.11:g.2718181G>T | OMIM Allelic Variant:607604.0009 | C1835897 610356 Retinal cone dystrophy 3B | | |
NM_133497.3(KCNV2):c.491T>C (p.Phe164Ser) | 169522 | KCNV2 | Pathogenic | 397514604 | RCV000033033; | N | MedGen:C1835897,OMIM:610356,ORPHA:209932 | 9 | 2718230 | 2718230 | NM_133497.3:c.491T>C | NP_598004.1:p.Phe164Ser | NC_000009.11:g.2718230T>C | OMIM Allelic Variant:607604.0010 | C1835897 610356 Retinal cone dystrophy 3B | | |
NM_133497.3(KCNV2):c.767C>G (p.Ser256Trp) | 169522 | KCNV2 | Pathogenic | 104894116 | RCV000003150; | N | MedGen:C1835897,OMIM:610356,ORPHA:209932 | 9 | 2718506 | 2718506 | NM_133497.3:c.767C>G | NP_598004.1:p.Ser256Trp | NC_000009.11:g.2718506C>G | OMIM Allelic Variant:607604.0005 | C1835897 610356 Retinal cone dystrophy 3B | | |
NM_133497.3(KCNV2):c.916G>T (p.Glu306Ter) | 169522 | KCNV2 | Pathogenic | 104894114 | RCV000003147; | N | MedGen:C1835897,OMIM:610356,ORPHA:209932 | 9 | 2718655 | 2718655 | NM_133497.3:c.916G>T | NP_598004.1:p.Glu306Ter | NC_000009.11:g.2718655G>T | OMIM Allelic Variant:607604.0002 | C1835897 610356 Retinal cone dystrophy 3B | | |
NM_133497.3(KCNV2):c.1016_1024delACCTGGTGG (p.Asp339_Val341del) | 169522 | KCNV2 | Pathogenic | 786205064 | RCV000003149; | N | MedGen:C1835897,OMIM:610356,ORPHA:209932 | 9 | 2718755 | 2718763 | NM_133497.3:c.1016_1024delACCTGGTGG | NP_598004.1:p.Asp339_Val341del | NC_000009.11:g.2718755_2718763delACCTGGTGG | OMIM Allelic Variant:607604.0004 | C1835897 610356 Retinal cone dystrophy 3B | | |
NM_133497.3(KCNV2):c.1376G>A (p.Gly459Asp) | 169522 | KCNV2 | Pathogenic | 104894115 | RCV000003148; | N | MedGen:C1835897,OMIM:610356,ORPHA:209932 | 9 | 2729465 | 2729465 | NM_133497.3:c.1376G>A | NP_598004.1:p.Gly459Asp | NC_000009.11:g.2729465G>A | OMIM Allelic Variant:607604.0003 | C1835897 610356 Retinal cone dystrophy 3B | | |