Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_004836.6(EIF2AK3):c.2985+1G>A | -1 | - | Pathogenic | 869025179 | RCV000006234; | N | MedGen:C0432217,OMIM:226980,ORPHA:1667,SNOMED CT:254066006 | 2 | 88870391 | 88870391 | NM_004836.6:c.2985+1G>A | | NC_000002.11:g.88870391C>T | OMIM Allelic Variant:604032.0003 | C0432217 226980 Wolcott-Rallison dysplasia | | |
NM_004836.6(EIF2AK3):c.1763G>A (p.Arg588Gln) | 9451 | EIF2AK3 | Pathogenic | 121908569 | RCV000006233; | N | MedGen:C0432217,OMIM:226980,ORPHA:1667,SNOMED CT:254066006 | 2 | 88882948 | 88882948 | NM_004836.6:c.1763G>A | NP_004827.4:p.Arg588Gln | NC_000002.11:g.88882948C>T | OMIM Allelic Variant:604032.0002 | C0432217 226980 Wolcott-Rallison dysplasia | | |
NM_004836.6(EIF2AK3):c.1564_1565delTG (p.Trp522Glufs) | 9451 | EIF2AK3 | Pathogenic | 797045558 | RCV000193530; | N | MedGen:C0432217,OMIM:226980,ORPHA:1667,SNOMED CT:254066006 | 2 | 88885444 | 88885445 | NM_004836.6:c.1564_1565delTG | NP_004827.4:p.Trp522Glufs | NC_000002.11:g.88885444_88885445delCA | - | C0432217 226980 Wolcott-Rallison dysplasia | | |
NM_004836.6(EIF2AK3):c.1192C>T (p.Gln398Ter) | 9451 | EIF2AK3 | Pathogenic | 864621972 | RCV000204196; | N | MedGen:C0432217,OMIM:226980,ORPHA:1667,SNOMED CT:254066006 | 2 | 88888393 | 88888393 | NM_004836.6:c.1192C>T | NP_004827.4:p.Gln398Ter | NC_000002.11:g.88888393G>A | - | C0432217 226980 Wolcott-Rallison dysplasia | | |
NM_004836.6(EIF2AK3):c.1035dupT (p.Lys346Terfs) | 9451 | EIF2AK3 | Pathogenic | 869025178 | RCV000006232; | N | MedGen:C0432217,OMIM:226980,ORPHA:1667,SNOMED CT:254066006 | 2 | 88890091 | 88890091 | NM_004836.6:c.1035dupT | NP_004827.4:p.Lys346Terfs | NC_000002.11:g.88890091dupA | OMIM Allelic Variant:604032.0001 | C0432217 226980 Wolcott-Rallison dysplasia | | |
NM_004836.6(EIF2AK3):c.994G>T (p.Glu332Ter) | 9451 | EIF2AK3 | Pathogenic | 121908570 | RCV000006236; | N | MedGen:C0432217,OMIM:226980,ORPHA:1667,SNOMED CT:254066006 | 2 | 88890344 | 88890344 | NM_004836.6:c.994G>T | NP_004827.4:p.Glu332Ter | NC_000002.11:g.88890344C>A | OMIM Allelic Variant:604032.0005 | C0432217 226980 Wolcott-Rallison dysplasia | | |