Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_006772.2(SYNGAP1):c.388-2A>G | 8831 | SYNGAP1 | Pathogenic | 797045012 | RCV000190512; | N | MedGen:C2675473,OMIM:612621 | 6 | 33400460 | 33400460 | NM_006772.2:c.388-2A>G | | NC_000006.11:g.33400460A>G | - | C2675473 612621 Mental retardation, autosomal dominant 5 | | |
NM_006772.2(SYNGAP1):c.412A>T (p.Lys138Ter) | 8831 | SYNGAP1 | Pathogenic | 121918315 | RCV000006764; | N | MedGen:C2675473,OMIM:612621 | 6 | 33400486 | 33400486 | NM_006772.2:c.412A>T | NP_006763.2:p.Lys138Ter | NC_000006.11:g.33400486A>T | OMIM Allelic Variant:603384.0001 | C2675473 612621 Mental retardation, autosomal dominant 5 | | |
NM_006772.2(SYNGAP1):c.427C>T (p.Arg143Ter) | 8831 | SYNGAP1 | Pathogenic | 397514741 | RCV000054513; | N | MedGen:C2675473,OMIM:612621 | 6 | 33400501 | 33400501 | NM_006772.2:c.427C>T | NP_006763.2:p.Arg143Ter | NC_000006.11:g.33400501C>T | OMIM Allelic Variant:603384.0010 | C2675473 612621 Mental retardation, autosomal dominant 5 | | |
NM_006772.2(SYNGAP1):c.762+1G>T | 8831 | SYNGAP1 | Pathogenic | 797046031 | RCV000193233; | N | MedGen:C2675473,OMIM:612621 | 6 | 33403391 | 33403391 | NM_006772.2:c.762+1G>T | | NC_000006.11:g.33403391G>T | - | C2675473 612621 Mental retardation, autosomal dominant 5 | | |
NM_006772.2(SYNGAP1):c.896delG (p.Arg299Profs) | 8831 | SYNGAP1 | Pathogenic | 863224930 | RCV000198471; | N | MedGen:C2675473,OMIM:612621 | 6 | 33405578 | 33405578 | NM_006772.2:c.896delG | NP_006763.2:p.Arg299Profs | NC_000006.11:g.33405578delG | - | C2675473 612621 Mental retardation, autosomal dominant 5 | | |
NM_006772.2(SYNGAP1):c.1576delG (p.Val526Terfs) | 8831 | SYNGAP1 | Pathogenic | 797046028 | RCV000193516; | N | MedGen:C2675473,OMIM:612621 | 6 | 33406596 | 33406596 | NM_006772.2:c.1576delG | NP_006763.2:p.Val526Terfs | NC_000006.11:g.33406596delG | - | C2675473 612621 Mental retardation, autosomal dominant 5 | | |
NM_006772.2(SYNGAP1):c.1685C>T (p.Pro562Leu) | 8831 | SYNGAP1 | Pathogenic | 397514670 | RCV000034348; | N | MedGen:C2675473,OMIM:612621 | 6 | 33408514 | 33408514 | NM_006772.2:c.1685C>T | NP_006763.2:p.Pro562Leu | NC_000006.11:g.33408514C>T | OMIM Allelic Variant:603384.0008 | C2675473 612621 Mental retardation, autosomal dominant 5 | | |
NM_006772.2(SYNGAP1):c.1735C>T (p.Arg579Ter) | 8831 | SYNGAP1 | Pathogenic | 121918316 | RCV000006765; | N | MedGen:C2675473,OMIM:612621 | 6 | 33408564 | 33408564 | NM_006772.2:c.1735C>T | NP_006763.2:p.Arg579Ter | NC_000006.11:g.33408564C>T | OMIM Allelic Variant:603384.0002 | C2675473 612621 Mental retardation, autosomal dominant 5 | | |
NM_006772.2(SYNGAP1):c.1783delC (p.Leu595Cysfs) | 8831 | SYNGAP1 | Pathogenic | 587780470 | RCV000118565; | N | MedGen:C2675473,OMIM:612621 | 6 | 33408612 | 33408612 | NM_006772.2:c.1783delC | NP_006763.2:p.Leu595Cysfs | NC_000006.11:g.33408612delC | - | C2675473 612621 Mental retardation, autosomal dominant 5 | | |
NM_006772.2(SYNGAP1):c.2066_2071delTCTCCAinsC (p.Leu689Profs) | 8831 | SYNGAP1 | Pathogenic | 797046029 | RCV000194556; | N | MedGen:C2675473,OMIM:612621 | 6 | 33409102 | 33409107 | NM_006772.2:c.2066_2071delTCTCCAinsC | NP_006763.2:p.Leu689Profs | NC_000006.11:g.33409102_33409107delTCTCCAinsC | - | C2675473 612621 Mental retardation, autosomal dominant 5 | | |
NM_006772.2(SYNGAP1):c.2438delT (p.Leu813Argfs) | 8831 | SYNGAP1 | Pathogenic | 397515320 | RCV000006766; | N | MedGen:C2675473,OMIM:612621 | 6 | 33410767 | 33410767 | NM_006772.2:c.2438delT | NP_006763.2:p.Leu813Argfs | NC_000006.11:g.33410767delT | OMIM Allelic Variant:603384.0003 | C2675473 612621 Mental retardation, autosomal dominant 5 | | |
NM_006772.2(SYNGAP1):c.2602delG (p.Asp868Thrfs) | 8831 | SYNGAP1 | Pathogenic | 587780474 | RCV000118568; | N | MedGen:C2675473,OMIM:612621 | 6 | 33410931 | 33410931 | NM_006772.2:c.2602delG | NP_006763.2:p.Asp868Thrfs | NC_000006.11:g.33410931delG | - | C2675473 612621 Mental retardation, autosomal dominant 5 | | |
NM_006772.2(SYNGAP1):c.3494C>T (p.Ser1165Leu) | 8831 | SYNGAP1 | Likely pathogenic | 875989808 | RCV000211105; | N | MedGen:C2675473,OMIM:612621 | 6 | 33412306 | 33412306 | NM_006772.2:c.3494C>T | NP_006763.2:p.Ser1165Leu | NC_000006.11:g.33412306C>T | - | C2675473 612621 Mental retardation, autosomal dominant 5 | | |
NM_006772.2(SYNGAP1):c.3583-6G>A | 8831 | SYNGAP1 | Uncertain significance | 869312674 | RCV000209920; | N | MedGen:C2675473,OMIM:612621 | 6 | 33414346 | 33414346 | NM_006772.2:c.3583-6G>A | | NC_000006.11:g.33414346G>A | - | C2675473 612621 Mental retardation, autosomal dominant 5 | | |
NM_006772.2(SYNGAP1):c.3592delT (p.Tyr1198Thrfs) | 8831 | SYNGAP1 | Pathogenic | 797046030 | RCV000194044; | N | MedGen:C2675473,OMIM:612621 | 6 | 33414361 | 33414361 | NM_006772.2:c.3592delT | NP_006763.2:p.Tyr1198Thrfs | NC_000006.11:g.33414361delT | - | C2675473 612621 Mental retardation, autosomal dominant 5 | | |
NM_006772.2(SYNGAP1):c.3788_3794delTTGGCAG (p.Ile1263Serfs) | 8831 | SYNGAP1 | Pathogenic | 869312677 | RCV000209949; | N | MedGen:C2675473,OMIM:612621 | 6 | 33414556 | 33414563 | NM_006772.2:c.3788_3794delTTGGCAG | NP_006763.2:p.Ile1263Serfs | NC_000006.11:g.33414557_33414563delTTGGCAG | - | C2675473 612621 Mental retardation, autosomal dominant 5 | | |