Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_018418.4(SPATA7):c.94+2T>C | 55812 | SPATA7 | Likely pathogenic | 786204787 | RCV000169677; | N | MedGen:C1858677,OMIM:604232 | 14 | 88857801 | 88857801 | NM_018418.4:c.94+2T>C | | NC_000014.8:g.88857801T>C | - | C1858677 604232 Leber congenital amaurosis 3 | | |
NM_018418.4(SPATA7):c.253C>T (p.Arg85Ter) | 55812 | SPATA7 | Pathogenic | 140287375 | RCV000023791; | N | MedGen:C1858677,OMIM:604232 | 14 | 88883069 | 88883069 | NM_018418.4:c.253C>T | NP_060888.2:p.Arg85Ter | NC_000014.8:g.88883069C>T | OMIM Allelic Variant:609868.0007 | C1858677 604232 Leber congenital amaurosis 3 | | |
NM_018418.4(SPATA7):c.322C>T (p.Arg108Ter) | 55812 | SPATA7 | Pathogenic | 80044281 | RCV000001460; | N | MedGen:C1858677,OMIM:604232 | 14 | 88883138 | 88883138 | NM_018418.4:c.322C>T | NP_060888.2:p.Arg108Ter | NC_000014.8:g.88883138C>T | OMIM Allelic Variant:609868.0001 | C1858677 604232 Leber congenital amaurosis 3 | | |
NM_018418.4(SPATA7):c.960dupA (p.Pro321Thrfs) | 55812 | SPATA7 | Pathogenic | 386834241 | RCV000001461; | N | MedGen:C1858677,OMIM:604232 | 14 | 88895739 | 88895739 | NM_018418.4:c.960dupA | NP_060888.2:p.Pro321Thrfs | NC_000014.8:g.88895739dupA | OMIM Allelic Variant:609868.0002 | C1858677 604232 Leber congenital amaurosis 3 | | |
NM_018418.4(SPATA7):c.1183C>T (p.Arg395Ter) | 55812 | SPATA7 | Pathogenic | 75895925 | RCV000001462; | N | MedGen:C1858677,OMIM:604232 | 14 | 88903909 | 88903909 | NM_018418.4:c.1183C>T | NP_060888.2:p.Arg395Ter | NC_000014.8:g.88903909C>T | OMIM Allelic Variant:609868.0003 | C1858677 604232 Leber congenital amaurosis 3 | | |
NM_018418.4(SPATA7):c.1395delA (p.Gln465Hisfs) | 55812 | SPATA7 | Pathogenic | 386834243 | RCV000001463; | N | MedGen:C1858677,OMIM:604232 | 14 | 88904361 | 88904361 | NM_018418.4:c.1395delA | NP_060888.2:p.Gln465Hisfs | NC_000014.8:g.88904361delA | OMIM Allelic Variant:609868.0004 | C1858677 604232 Leber congenital amaurosis 3 | | |