Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_031433.3(MFRP):c.1622_1625delTCTG (p.Val541Alafs) | -1 | - | Pathogenic | 730882142 | RCV000161913; | N | MedGen:C1970236,OMIM:611040,ORPHA:251279 | 11 | 119212373 | 119212376 | NM_031433.3:c.1622_1625delTCTG | NP_113621.1:p.Val541Alafs | NC_000011.9:g.119212373_119212376delCAGA | OMIM Allelic Variant:606227.0007 | C1970236 611040 Microphthalmia, isolated 5 | | |
NM_031433.3(MFRP):c.1549C>T (p.Arg517Trp) | -1 | - | Pathogenic | 730882144 | RCV000161916; | N | MedGen:C1970236,OMIM:611040,ORPHA:251279 | 11 | 119212449 | 119212449 | NM_031433.3:c.1549C>T | NP_113621.1:p.Arg517Trp | NC_000011.9:g.119212449G>A | OMIM Allelic Variant:606227.0010 | C1970236 611040 Microphthalmia, isolated 5 | | |
NM_031433.3(MFRP):c.1150dupC (p.His384Profs) | -1 | - | Pathogenic | 587776595 | RCV000004731; RCV000161910; | N | MedGen:C1836006,OMIM:609549; MedGen:C1970236,OMIM:611040,ORPHA:251279 | 11 | 119213688 | 119213688 | NM_031433.3:c.1150dupC | NP_113621.1:p.His384Profs | | OMIM Allelic Variant:606227.0001 | C1970236 611040 Microphthalmia, isolated 5; C1836006 609549 Nanophthalmos 2 | | |
NM_031433.3(MFRP):c.958C>T (p.Gln320Ter) | -1 | - | Pathogenic | 797045054 | RCV000191105; | N | MedGen:C1970236,OMIM:611040,ORPHA:251279 | 11 | 119215042 | 119215042 | NM_031433.3:c.958C>T | NP_113621.1:p.Gln320Ter | NC_000011.9:g.119215042G>A | - | C1970236 611040 Microphthalmia, isolated 5 | | |
NM_031433.3(MFRP):c.951C>A (p.Tyr317Ter) | -1 | - | Pathogenic | 730882141 | RCV000161912; | N | MedGen:C1970236,OMIM:611040,ORPHA:251279 | 11 | 119215049 | 119215049 | NM_031433.3:c.951C>A | NP_113621.1:p.Tyr317Ter | NC_000011.9:g.119215049G>T | OMIM Allelic Variant:606227.0006 | C1970236 611040 Microphthalmia, isolated 5 | | |
NM_031433.3(MFRP):c.498delC (p.Asn167Thrfs) | -1 | - | Pathogenic | 587776596 | RCV000004733; RCV000161911; | N | MedGen:C1836006,OMIM:609549; MedGen:C1970236,OMIM:611040,ORPHA:251279 | 11 | 119216273 | 119216273 | NM_031433.3:c.498delC | NP_113621.1:p.Asn167Thrfs | NC_000011.9:g.119216273delG | OMIM Allelic Variant:606227.0003 | C1970236 611040 Microphthalmia, isolated 5; C1836006 609549 Nanophthalmos 2 | | |
NM_031433.3(MFRP):c.498dupC (p.Asn167Glnfs) | -1 | - | Pathogenic | 606231145 | RCV000004735; | N | MedGen:C1970236,OMIM:611040,ORPHA:251279 | 11 | 119216273 | 119216273 | NM_031433.3:c.498dupC | NP_113621.1:p.Asn167Glnfs | NC_000011.9:g.119216273dupG | OMIM Allelic Variant:606227.0005 | C1970236 611040 Microphthalmia, isolated 5 | | |
NM_031433.3(MFRP):c.491_492insT (p.Asn167Glnfs) | -1 | - | Pathogenic | 730882143 | RCV000161915; | N | MedGen:C1970236,OMIM:611040,ORPHA:251279 | 11 | 119216279 | 119216280 | NM_031433.3:c.491_492insT | NP_113621.1:p.Asn167Glnfs | NC_000011.9:g.119216279_119216280insA | OMIM Allelic Variant:606227.0009 | C1970236 611040 Microphthalmia, isolated 5 | | |
NM_031433.3(MFRP):c.201G>A (p.Trp67Ter) | -1 | - | Pathogenic | 150232843 | RCV000161914; | N | MedGen:C1970236,OMIM:611040,ORPHA:251279 | 11 | 119216826 | 119216826 | NM_031433.3:c.201G>A | NP_113621.1:p.Trp67Ter | NC_000011.9:g.119216826C>T | OMIM Allelic Variant:606227.0008 | C1970236 611040 Microphthalmia, isolated 5 | | |