Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_001195129.1(PRSS56):c.526C>G (p.Arg176Gly) | 646960 | PRSS56 | Pathogenic | 387907096 | RCV000024076; | N | MedGen:C3150757,OMIM:613517 | 2 | 233387304 | 233387304 | NM_001195129.1:c.526C>G | NP_001182058.1:p.Arg176Gly | NC_000002.11:g.233387304C>G | OMIM Allelic Variant:613858.0003 | C3150757 613517 Microphthalmia, isolated 6 | | |
NM_001195129.1(PRSS56):c.709G>A (p.Gly237Arg) | 646960 | PRSS56 | Pathogenic | 730882160 | RCV000162041; | N | MedGen:C3150757,OMIM:613517 | 2 | 233387772 | 233387772 | NM_001195129.1:c.709G>A | NP_001182058.1:p.Gly237Arg | NC_000002.11:g.233387772G>A | OMIM Allelic Variant:613858.0008 | C3150757 613517 Microphthalmia, isolated 6 | | |
NM_001195129.1(PRSS56):c.833dupG (p.Val279Argfs) | 646960 | PRSS56 | Pathogenic | 730882159 | RCV000162040; | N | MedGen:C3150757,OMIM:613517 | 2 | 233387896 | 233387896 | NM_001195129.1:c.833dupG | NP_001182058.1:p.Val279Argfs | NC_000002.11:g.233387896dupG | OMIM Allelic Variant:613858.0007 | C3150757 613517 Microphthalmia, isolated 6 | | |
NM_001195129.1(PRSS56):c.904G>T (p.Val302Phe) | 646960 | PRSS56 | Pathogenic | 74703359 | RCV000162039; | N | MedGen:C3150757,OMIM:613517 | 2 | 233388180 | 233388180 | NM_001195129.1:c.904G>T | NP_001182058.1:p.Val302Phe | NC_000002.11:g.233388180G>T | OMIM Allelic Variant:613858.0006 | C3150757 613517 Microphthalmia, isolated 6 | | |
NM_001195129.1(PRSS56):c.926G>C (p.Trp309Ser) | 646960 | PRSS56 | Pathogenic | 387907095 | RCV000024075; | N | MedGen:C3150757,OMIM:613517 | 2 | 233388202 | 233388202 | NM_001195129.1:c.926G>C | NP_001182058.1:p.Trp309Ser | NC_000002.11:g.233388202G>C | OMIM Allelic Variant:613858.0002 | C3150757 613517 Microphthalmia, isolated 6 | | |
NM_001195129.1(PRSS56):c.958G>A (p.Gly320Arg) | 646960 | PRSS56 | Pathogenic | 730882158 | RCV000162038; | N | MedGen:C3150757,OMIM:613517 | 2 | 233388234 | 233388234 | NM_001195129.1:c.958G>A | NP_001182058.1:p.Gly320Arg | NC_000002.11:g.233388234G>A | OMIM Allelic Variant:613858.0005 | C3150757 613517 Microphthalmia, isolated 6 | | |
NM_001195129.1(PRSS56):c.1066dupC (p.Gln356Profs) | 646960 | PRSS56 | Pathogenic | 730882064 | RCV000024073; | N | MedGen:C3150757,OMIM:613517 | 2 | 233388535 | 233388535 | NM_001195129.1:c.1066dupC | NP_001182058.1:p.Gln356Profs | NC_000002.11:g.233388535dupC | OMIM Allelic Variant:613858.0001 | C3150757 613517 Microphthalmia, isolated 6 | | |
NM_001195129.1(PRSS56):c.1183T>C (p.Cys395Arg) | 646960 | PRSS56 | Pathogenic | 730882161 | RCV000162042; | N | MedGen:C3150757,OMIM:613517 | 2 | 233388652 | 233388652 | NM_001195129.1:c.1183T>C | NP_001182058.1:p.Cys395Arg | NC_000002.11:g.233388652T>C | OMIM Allelic Variant:613858.0009 | C3150757 613517 Microphthalmia, isolated 6 | | |
NM_001195129.1(PRSS56):c.1555G>A (p.Gly519Arg) | 646960 | PRSS56 | Pathogenic | 730882162 | RCV000162043; | N | MedGen:C3150757,OMIM:613517 | 2 | 233389959 | 233389959 | NM_001195129.1:c.1555G>A | NP_001182058.1:p.Gly519Arg | NC_000002.11:g.233389959G>A | OMIM Allelic Variant:613858.0010 | C3150757 613517 Microphthalmia, isolated 6 | | |
NM_001195129.1(PRSS56):c.1795C>G (p.Pro599Ala) | 646960 | PRSS56 | Pathogenic | 61744404 | RCV000024074; | N | MedGen:C3150757,OMIM:613517 | 2 | 233390199 | 233390199 | NM_001195129.1:c.1795C>G | NP_001182058.1:p.Pro599Ala | NC_000002.11:g.233390199C>G | OMIM Allelic Variant:613858.0004 | C3150757 613517 Microphthalmia, isolated 6 | | |