Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_032682.5(FOXP1):c.1685_1686insAAAACATGCAGAGCAG (p.Ser562Argfs) | 27086 | FOXP1 | Pathogenic | 398124429 | RCV000175485; | N | MedGen:C3150923,OMIM:613670,ORPHA:391372 | 3 | 71019923 | 71019924 | NM_032682.5:c.1685_1686insAAAACATGCAGAGCAG | NP_116071.2:p.Ser562Argfs | NC_000003.11:g.71019923_71019924insCTGCTCTGCATGTTTT,NC_000003.11:g.71019924_7101 | - | C3150923 613670 Mental retardation with language impairment and with or without autistic features | | |
NM_032682.5(FOXP1):c.1624C>T (p.Gln542Ter) | 27086 | FOXP1 | Pathogenic | 794727215 | RCV000175370; | N | MedGen:C3150923,OMIM:613670,ORPHA:391372 | 3 | 71021734 | 71021734 | NM_032682.5:c.1624C>T | NP_116071.2:p.Gln542Ter | NC_000003.11:g.71021734G>A | - | C3150923 613670 Mental retardation with language impairment and with or without autistic features | | |
NM_032682.5(FOXP1):c.1573C>T (p.Arg525Ter) | 27086 | FOXP1 | Pathogenic | 112795301 | RCV000005214; | N | MedGen:C3150923,OMIM:613670,ORPHA:391372 | 3 | 71021785 | 71021785 | NM_032682.5:c.1573C>T | NP_116071.2:p.Arg525Ter | NC_000003.11:g.71021785G>A | OMIM Allelic Variant:605515.0002 | C3150923 613670 Mental retardation with language impairment and with or without autistic features | | |
NM_032682.5(FOXP1):c.1541G>A (p.Arg514His) | 27086 | FOXP1 | Likely pathogenic | 797045586 | RCV000194178; | N | MedGen:C3150923,OMIM:613670,ORPHA:391372 | 3 | 71021817 | 71021817 | NM_032682.5:c.1541G>A | NP_116071.2:p.Arg514His | NC_000003.11:g.71021817C>T | - | C3150923 613670 Mental retardation with language impairment and with or without autistic features | | |
NM_032682.5(FOXP1):c.1540C>T (p.Arg514Cys) | 27086 | FOXP1 | Pathogenic | 869025203 | RCV000207490; | N | MedGen:C3150923,OMIM:613670,ORPHA:391372 | 3 | 71021818 | 71021818 | NM_032682.5:c.1540C>T | NP_116071.2:p.Arg514Cys | NC_000003.11:g.71021818G>A | - | C3150923 613670 Mental retardation with language impairment and with or without autistic features | | |
NM_032682.5(FOXP1):c.1507C>T (p.Arg503Ter) | 27086 | FOXP1 | Pathogenic | 797045584 | RCV000195136; | N | MedGen:C3150923,OMIM:613670,ORPHA:391372 | 3 | 71026115 | 71026115 | NM_032682.5:c.1507C>T | NP_116071.2:p.Arg503Ter | NC_000003.11:g.71026115G>A | - | C3150923 613670 Mental retardation with language impairment and with or without autistic features | | |
NM_032682.5(FOXP1):c.1393A>G (p.Arg465Gly) | 27086 | FOXP1 | Pathogenic | 869025202 | RCV000207489; | N | MedGen:C3150923,OMIM:613670,ORPHA:391372 | 3 | 71026829 | 71026829 | NM_032682.5:c.1393A>G | NP_116071.2:p.Arg465Gly | NC_000003.11:g.71026829T>C | - | C3150923 613670 Mental retardation with language impairment and with or without autistic features | | |
NM_032682.5(FOXP1):c.1317C>A (p.Tyr439Ter) | 27086 | FOXP1 | Pathogenic | 794727155 | RCV000174956; | N | MedGen:C3150923,OMIM:613670,ORPHA:391372 | 3 | 71027010 | 71027010 | NM_032682.5:c.1317C>A | NP_116071.2:p.Tyr439Ter | NC_000003.11:g.71027010G>T | - | C3150923 613670 Mental retardation with language impairment and with or without autistic features | | |
NM_032682.5(FOXP1):c.1317C>G (p.Tyr439Ter) | 27086 | FOXP1 | Pathogenic | 794727155 | RCV000207487; | N | MedGen:C3150923,OMIM:613670,ORPHA:391372 | 3 | 71027010 | 71027010 | NM_032682.5:c.1317C>G | NP_116071.2:p.Tyr439Ter | | - | C3150923 613670 Mental retardation with language impairment and with or without autistic features | | |
NM_032682.5(FOXP1):c.1267_1268delGT (p.Val423Hisfs) | 27086 | FOXP1 | Likely pathogenic | 786200948 | RCV000169648; | N | MedGen:C3150923,OMIM:613670,ORPHA:391372 | 3 | 71027059 | 71027060 | NM_032682.5:c.1267_1268delGT | NP_116071.2:p.Val423Hisfs | NC_000003.11:g.71027059_71027060delAC | - | C3150923 613670 Mental retardation with language impairment and with or without autistic features | | |
NM_032682.5(FOXP1):c.1240dupC (p.Leu414Profs) | 27086 | FOXP1 | Pathogenic | 797044652 | RCV000174957; | N | MedGen:C3150923,OMIM:613670,ORPHA:391372 | 3 | 71027087 | 71027087 | NM_032682.5:c.1240dupC | NP_116071.2:p.Leu414Profs | NC_000003.11:g.71027087dupG | - | C3150923 613670 Mental retardation with language impairment and with or without autistic features | | |