Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_004247.3(EFTUD2):c.2770C>T (p.Gln924Ter) | 9343 | EFTUD2 | Pathogenic | 387906878 | RCV000023354; | N | MedGen:C1864652,OMIM:610536,ORPHA:79113 | 17 | 42929131 | 42929131 | NM_004247.3:c.2770C>T | NP_004238.3:p.Gln924Ter | NC_000017.10:g.42929131G>A | OMIM Allelic Variant:603892.0002 | C1864652 610536 Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate | | |
NM_004247.3(EFTUD2):c.2045+2T>G | 9343 | EFTUD2 | Likely pathogenic | 863224868 | RCV000197354; | N | MedGen:C1864652,OMIM:610536,ORPHA:79113 | 17 | 42934441 | 42934441 | NM_004247.3:c.2045+2T>G | | NC_000017.10:g.42934441A>C | - | C1864652 610536 Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate | | |
NM_004247.3(EFTUD2):c.1910T>G (p.Leu637Arg) | 9343 | EFTUD2 | Pathogenic | 387906879 | RCV000023357; | N | MedGen:C1864652,OMIM:610536,ORPHA:79113 | 17 | 42936500 | 42936500 | NM_004247.3:c.1910T>G | NP_004238.3:p.Leu637Arg | NC_000017.10:g.42936500A>C | OMIM Allelic Variant:603892.0005 | C1864652 610536 Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate | | |
NM_004247.3(EFTUD2):c.1297_1298delAT (p.Met433Valfs) | 9343 | EFTUD2 | Pathogenic | 797045551 | RCV000192370; | N | MedGen:C1864652,OMIM:610536,ORPHA:79113 | 17 | 42941138 | 42941139 | NM_004247.3:c.1297_1298delAT | NP_004238.3:p.Met433Valfs | NC_000017.10:g.42941138_42941139delAT | - | C1864652 610536 Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate | | |
NM_004247.3(EFTUD2):c.1149+1G>C | 9343 | EFTUD2 | Pathogenic | 797045550 | RCV000194510; | N | MedGen:C1864652,OMIM:610536,ORPHA:79113 | 17 | 42945174 | 42945174 | NM_004247.3:c.1149+1G>C | | NC_000017.10:g.42945174C>G | - | C1864652 610536 Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate | | |
NM_004247.3(EFTUD2):c.784C>T (p.Arg262Trp) | 9343 | EFTUD2 | Pathogenic | 387906877 | RCV000023353; | N | MedGen:C1864652,OMIM:610536,ORPHA:79113 | 17 | 42953387 | 42953387 | NM_004247.3:c.784C>T | NP_004238.3:p.Arg262Trp | NC_000017.10:g.42953387G>A | OMIM Allelic Variant:603892.0001 | C1864652 610536 Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate | | |
NM_004247.3(EFTUD2):c.764dupT (p.Cys256Valfs) | 9343 | EFTUD2 | Pathogenic | 794729651 | RCV000185561; | N | MedGen:C1864652,OMIM:610536,ORPHA:79113 | 17 | 42953407 | 42953407 | NM_004247.3:c.764dupT | NP_004238.3:p.Cys256Valfs | NC_000017.10:g.42953407dupA | - | C1864652 610536 Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate | | |
NM_004247.3(EFTUD2):c.623A>G (p.His208Arg) | 9343 | EFTUD2 | Pathogenic | 397515431 | RCV000033145; | N | MedGen:C1864652,OMIM:610536,ORPHA:79113 | 17 | 42957003 | 42957003 | NM_004247.3:c.623A>G | NP_004238.3:p.His208Arg | NC_000017.10:g.42957003T>C | OMIM Allelic Variant:603892.0007 | C1864652 610536 Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate | | |