| NM_006772.3(SYNGAP1):c.3834dup (p.Ala1279fs) |
duplication |
Intellectual disability [RCV001526590] |
Chr6:33447878..33447879 [GRCh38]
Chr6:33415655..33415656 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.707C>T (p.Ala236Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000550436]|not provided [RCV001544956] |
Chr6:33435558 [GRCh38]
Chr6:33403335 [GRCh37]
Chr6:6p21.32 |
benign|likely benign |
| NM_006772.3(SYNGAP1):c.3195G>A (p.Pro1065=) |
single nucleotide variant |
Inborn genetic diseases [RCV002324000]|Intellectual disability, autosomal dominant 5 [RCV000542838] |
Chr6:33443747 [GRCh38]
Chr6:33411524 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1677-8C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001483219]|SYNGAP1-related disorder [RCV004553137]|not provided [RCV003482274] |
Chr6:33440721 [GRCh38]
Chr6:33408498 [GRCh37]
Chr6:6p21.32 |
benign|likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.510-1G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000032868] |
Chr6:33435151 [GRCh38]
Chr6:33402928 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2677del (p.Gln893fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV000034345] |
Chr6:33443227 [GRCh38]
Chr6:33411004 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2294+1G>A |
single nucleotide variant |
Intellectual disability [RCV001260864]|Intellectual disability, autosomal dominant 5 [RCV000034346]|not provided [RCV003441726] |
Chr6:33441760 [GRCh38]
Chr6:33409537 [GRCh37]
Chr6:6p21.32 |
pathogenic|likely pathogenic |
| NM_006772.3(SYNGAP1):c.1084T>C (p.Trp362Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000034347] |
Chr6:33437989 [GRCh38]
Chr6:33405766 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1213C>T (p.Arg405Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002359160]|not provided [RCV001544754] |
Chr6:33438118 [GRCh38]
Chr6:33405895 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.2361C>T (p.Pro787=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002072211]|not provided [RCV001571130] |
Chr6:33442913 [GRCh38]
Chr6:33410690 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1888A>G (p.Ile630Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002413568]|Intellectual disability, autosomal dominant 5 [RCV000547975]|not provided [RCV001637076] |
Chr6:33440940 [GRCh38]
Chr6:33408717 [GRCh37]
Chr6:6p21.32 |
benign|likely benign |
| NM_006772.3(SYNGAP1):c.2294+1G>T |
single nucleotide variant |
Complex neurodevelopmental disorder [RCV001265155]|Intellectual disability, autosomal dominant 5 [RCV001853685]|SYNGAP1-related disorder [RCV003987580]|not provided [RCV000520092] |
Chr6:33441760 [GRCh38]
Chr6:33409537 [GRCh37]
Chr6:6p21.32 |
pathogenic|not provided |
| NM_006772.3(SYNGAP1):c.1066C>T (p.Arg356Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000547833] |
Chr6:33437971 [GRCh38]
Chr6:33405748 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2713C>T (p.Arg905Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000525481]|not provided [RCV004592585] |
Chr6:33443265 [GRCh38]
Chr6:33411042 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.412A>T (p.Lys138Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000006764] |
Chr6:33432709 [GRCh38]
Chr6:33400486 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1735C>T (p.Arg579Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV002399311]|Intellectual disability, autosomal dominant 5 [RCV000006765]|not provided [RCV000255371] |
Chr6:33440787 [GRCh38]
Chr6:33408564 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2438del (p.Leu813fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV000006766]|not provided [RCV001588803] |
Chr6:33442990 [GRCh38]
Chr6:33410767 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| SYNGAP1, TRP267TER |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000054514] |
Chr6:6p21.3 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu) |
single nucleotide variant |
Autosomal dominant epilepsy [RCV003156067]|Complex neurodevelopmental disorder [RCV001265525]|Inborn genetic diseases [RCV000623832]|Intellectual disability, autosomal dominant 5 [RCV000034348]|SYNGAP1-related developmental and epileptic encephalopathy [RCV002273941]|not provided [RCV000254832] |
Chr6:33440737 [GRCh38]
Chr6:33408514 [GRCh37]
Chr6:6p21.32 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006772.3(SYNGAP1):c.427C>T (p.Arg143Ter) |
single nucleotide variant |
Complex neurodevelopmental disorder [RCV001265523]|Intellectual disability, autosomal dominant 5 [RCV000054513]|not provided [RCV000599367] |
Chr6:33432724 [GRCh38]
Chr6:33400501 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.355dup (p.Glu119fs) |
duplication |
not provided [RCV000658034] |
Chr6:33432218..33432219 [GRCh38]
Chr6:33399995..33399996 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1652T>C (p.Leu551Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000660522] |
Chr6:33438895 [GRCh38]
Chr6:33406672 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.2(SYNGAP1):c.1782delC (p.Leu595Cysfs) |
deletion |
Mental retardation, autosomal dominant 5 [RCV000118562] |
Chr6:33440834 [GRCh38]
Chr6:33408611 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1536A>G (p.Glu512=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312505]|Intellectual disability, autosomal dominant 5 [RCV000465571]|not provided [RCV001675625]|not specified [RCV000118563] |
Chr6:33438779 [GRCh38]
Chr6:33406556 [GRCh37]
Chr6:6p21.32 |
benign|likely benign |
| NM_006772.3(SYNGAP1):c.1713G>A (p.Ser571=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312506]|Intellectual disability, autosomal dominant 5 [RCV000860092]|not specified [RCV000118564] |
Chr6:33440765 [GRCh38]
Chr6:33408542 [GRCh37]
Chr6:6p21.32 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_006772.3(SYNGAP1):c.1783del (p.Leu595fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV000118565]|not provided [RCV001269578] |
Chr6:33440834 [GRCh38]
Chr6:33408611 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1851G>A (p.Glu617=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312507]|Intellectual disability, autosomal dominant 5 [RCV000860451]|not provided [RCV001689659]|not specified [RCV000118566] |
Chr6:33440903 [GRCh38]
Chr6:33408680 [GRCh37]
Chr6:6p21.32 |
benign|likely benign |
| NM_006772.3(SYNGAP1):c.198C>T (p.Pro66=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312508]|Intellectual disability, autosomal dominant 5 [RCV000471965]|not provided [RCV001689660]|not specified [RCV000118567] |
Chr6:33425806 [GRCh38]
Chr6:33393583 [GRCh37]
Chr6:6p21.32 |
benign|likely benign |
| NM_006772.3(SYNGAP1):c.2602del (p.Asp868fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV000118568] |
Chr6:33443151 [GRCh38]
Chr6:33410928 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2970C>T (p.Ser990=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312509]|Intellectual disability, autosomal dominant 5 [RCV000457461]|not provided [RCV001675626]|not specified [RCV000118569] |
Chr6:33443522 [GRCh38]
Chr6:33411299 [GRCh37]
Chr6:6p21.32 |
benign|likely benign |
| NM_006772.3(SYNGAP1):c.3344T>C (p.Ile1115Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002313922]|Intellectual disability, autosomal dominant 5 [RCV000231703]|SYNGAP1-related disorder [RCV004549587]|not provided [RCV000433344]|not specified [RCV000118570] |
Chr6:33443896 [GRCh38]
Chr6:33411673 [GRCh37]
Chr6:6p21.32 |
benign|likely benign |
| NM_006772.3(SYNGAP1):c.84T>C (p.Ser28=) |
single nucleotide variant |
Inborn genetic diseases [RCV002313923]|Intellectual disability, autosomal dominant 5 [RCV000463563]|SYNGAP1-related disorder [RCV004549588]|not provided [RCV000857539]|not specified [RCV000118571] |
Chr6:33423493 [GRCh38]
Chr6:33391270 [GRCh37]
Chr6:6p21.32 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_006772.3(SYNGAP1):c.535del (p.Glu179fs) |
deletion |
not provided [RCV000171521] |
Chr6:33435176 [GRCh38]
Chr6:33402953 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.388-2A>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000190512] |
Chr6:33432683 [GRCh38]
Chr6:33400460 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.514C>T (p.Arg172Trp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001291709] |
Chr6:33435156 [GRCh38]
Chr6:33402933 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2300T>C (p.Ile767Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001348372] |
Chr6:33442458 [GRCh38]
Chr6:33410235 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3354C>T (p.Ser1118=) |
single nucleotide variant |
Inborn genetic diseases [RCV002324095]|Intellectual disability, autosomal dominant 5 [RCV001493835] |
Chr6:33443906 [GRCh38]
Chr6:33411683 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3494C>T (p.Ser1165Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000211105] |
Chr6:33444529 [GRCh38]
Chr6:33412306 [GRCh37]
Chr6:6p21.32 |
likely pathogenic|conflicting interpretations of pathogenicity |
| GRCh38/hg38 6p21.32(chr6:33415354-33432929)x3 |
copy number gain |
See cases [RCV000140862] |
Chr6:33415354..33432929 [GRCh38]
Chr6:33383131..33400706 [GRCh37]
Chr6:33491109..33508684 [NCBI36]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1154C>G (p.Ser385Trp) |
single nucleotide variant |
not specified [RCV000203123] |
Chr6:33438059 [GRCh38]
Chr6:33405836 [GRCh37]
Chr6:6p21.32 |
benign |
| GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 |
copy number gain |
See cases [RCV000143497] |
Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3902C>A (p.Pro1301His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002517141]|not specified [RCV000192735] |
Chr6:33451776 [GRCh38]
Chr6:33419553 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.2324G>A (p.Arg775Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001038697]|not provided [RCV003221850]|not specified [RCV000192987] |
Chr6:33442482 [GRCh38]
Chr6:33410259 [GRCh37]
Chr6:6p21.32 |
benign|likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.3324C>T (p.Ser1108=) |
single nucleotide variant |
Inborn genetic diseases [RCV002315510]|Intellectual disability, autosomal dominant 5 [RCV000531600]|not provided [RCV001707552]|not specified [RCV000193002] |
Chr6:33443876 [GRCh38]
Chr6:33411653 [GRCh37]
Chr6:6p21.32 |
benign|likely benign |
| NM_006772.3(SYNGAP1):c.2583G>A (p.Ser861=) |
single nucleotide variant |
Inborn genetic diseases [RCV002315509]|Intellectual disability, autosomal dominant 5 [RCV000475836]|SYNGAP1-related disorder [RCV004553060]|not provided [RCV004597757]|not specified [RCV000193648] |
Chr6:33443135 [GRCh38]
Chr6:33410912 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.2845G>A (p.Gly949Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002433871]|Intellectual disability, autosomal dominant 5 [RCV000864367]|not provided [RCV003430749]|not specified [RCV000194683] |
Chr6:33443397 [GRCh38]
Chr6:33411174 [GRCh37]
Chr6:6p21.32 |
benign|likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.3834C>T (p.Pro1278=) |
single nucleotide variant |
Inborn genetic diseases [RCV002317712]|Intellectual disability, autosomal dominant 5 [RCV000556752]|not provided [RCV001799631]|not specified [RCV000195055] |
Chr6:33447882 [GRCh38]
Chr6:33415659 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.586T>C (p.Leu196=) |
single nucleotide variant |
Inborn genetic diseases [RCV002317713]|Intellectual disability, autosomal dominant 5 [RCV000474030]|not provided [RCV001532538]|not specified [RCV000195171] |
Chr6:33435228 [GRCh38]
Chr6:33403005 [GRCh37]
Chr6:6p21.32 |
benign|likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.3277C>T (p.Gln1093Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000680115]|not provided [RCV000579246] |
Chr6:33443829 [GRCh38]
Chr6:33411606 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.896del (p.Arg299fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV000198471] |
Chr6:33437801 [GRCh38]
Chr6:33405578 [GRCh37]
Chr6:6p21.32 |
pathogenic|likely pathogenic |
| NM_006772.3(SYNGAP1):c.1455C>T (p.Arg485=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000862444]|not provided [RCV001618342]|not specified [RCV000192504] |
Chr6:33438487 [GRCh38]
Chr6:33406264 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.762+1G>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000193233] |
Chr6:33435614 [GRCh38]
Chr6:33403391 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1576del (p.Glu525_Val526insTer) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV000193516] |
Chr6:33438818 [GRCh38]
Chr6:33406595 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3592del (p.Tyr1198fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV000194044] |
Chr6:33446584 [GRCh38]
Chr6:33414361 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1300G>A (p.Val434Ile) |
single nucleotide variant |
not specified [RCV000194471] |
Chr6:33438205 [GRCh38]
Chr6:33405982 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2066_2071delinsC (p.Leu689fs) |
indel |
Intellectual disability, autosomal dominant 5 [RCV000194556] |
Chr6:33441325..33441330 [GRCh38]
Chr6:33409102..33409107 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2782C>T (p.Gln928Ter) |
single nucleotide variant |
Intellectual disability [RCV001526635]|Intellectual disability, autosomal dominant 5 [RCV002568842] |
Chr6:33443334 [GRCh38]
Chr6:33411111 [GRCh37]
Chr6:6p21.32 |
pathogenic|likely pathogenic |
| NM_006772.3(SYNGAP1):c.3233_3255del (p.Val1078fs) |
deletion |
Intellectual disability [RCV001526524] |
Chr6:33443784..33443806 [GRCh38]
Chr6:33411561..33411583 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| GRCh37/hg19 6p21.32(chr6:33256191-33400523)x3 |
copy number gain |
Breast ductal adenocarcinoma [RCV000207216] |
Chr6:33256191..33400523 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3718C>T (p.Arg1240Ter) |
single nucleotide variant |
Complex neurodevelopmental disorder [RCV001265530]|Inborn genetic diseases [RCV000210697]|Intellectual disability, autosomal dominant 5 [RCV000679896]|not provided [RCV000760502] |
Chr6:33446710 [GRCh38]
Chr6:33414487 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2578_2579del (p.Val860fs) |
microsatellite |
Intellectual disability, autosomal dominant 5 [RCV000234890] |
Chr6:33443128..33443129 [GRCh38]
Chr6:33410905..33410906 [GRCh37]
Chr6:6p21.32 |
pathogenic|likely pathogenic |
| NM_006772.3(SYNGAP1):c.3583-6G>A |
single nucleotide variant |
Intellectual disability [RCV000224644]|Intellectual disability, autosomal dominant 5 [RCV000209920]|SYNGAP1-related disorder [RCV004547504]|not provided [RCV001778797] |
Chr6:33446569 [GRCh38]
Chr6:33414346 [GRCh37]
Chr6:6p21.32 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006772.3(SYNGAP1):c.3788_3794del (p.Ile1263fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV000209949] |
Chr6:33446780..33446786 [GRCh38]
Chr6:33414557..33414563 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2016G>A (p.Thr672=) |
single nucleotide variant |
Inborn genetic diseases [RCV002317767]|Intellectual disability, autosomal dominant 5 [RCV000230257]|SYNGAP1-related disorder [RCV004547609]|not provided [RCV001723819] |
Chr6:33441275 [GRCh38]
Chr6:33409052 [GRCh37]
Chr6:6p21.32 |
benign|likely benign |
| NM_006772.3(SYNGAP1):c.1491T>C (p.Tyr497=) |
single nucleotide variant |
Inborn genetic diseases [RCV002317766]|Intellectual disability, autosomal dominant 5 [RCV000232446]|not provided [RCV001532541]|not specified [RCV001289211] |
Chr6:33438523 [GRCh38]
Chr6:33406300 [GRCh37]
Chr6:6p21.32 |
benign|likely benign |
| NM_006772.3(SYNGAP1):c.1776A>G (p.Ser592=) |
single nucleotide variant |
Inborn genetic diseases [RCV002311354]|Intellectual disability, autosomal dominant 5 [RCV000226285]|SYNGAP1-related disorder [RCV004547608]|not provided [RCV001682941]|not specified [RCV000502576] |
Chr6:33440828 [GRCh38]
Chr6:33408605 [GRCh37]
Chr6:6p21.32 |
benign|likely benign |
| NM_006772.3(SYNGAP1):c.43del (p.Ala15fs) |
deletion |
Inborn genetic diseases [RCV000623210] |
Chr6:33420307 [GRCh38]
Chr6:33388084 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1350A>G (p.Ala450=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000526200]|not provided [RCV001675925] |
Chr6:33438255 [GRCh38]
Chr6:33406032 [GRCh37]
Chr6:6p21.32 |
benign|likely benign |
| NM_006772.3(SYNGAP1):c.3858A>T (p.Glu1286Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000545525]|not provided [RCV001584301] |
Chr6:33447906 [GRCh38]
Chr6:33415683 [GRCh37]
Chr6:6p21.32 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006772.3(SYNGAP1):c.3376G>T (p.Gly1126Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000546333] |
Chr6:33443928 [GRCh38]
Chr6:33411705 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2793_2794del (p.Phe932fs) |
microsatellite |
Developmental disorder [RCV003126874]|Inborn genetic diseases [RCV000623563]|Intellectual disability, autosomal dominant 5 [RCV003985402] |
Chr6:33443341..33443342 [GRCh38]
Chr6:33411118..33411119 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.881C>T (p.Thr294Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000549393] |
Chr6:33437786 [GRCh38]
Chr6:33405563 [GRCh37]
Chr6:6p21.32 |
likely pathogenic|uncertain significance |
| NM_006772.3(SYNGAP1):c.786T>C (p.Asn262=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000528708] |
Chr6:33437691 [GRCh38]
Chr6:33405468 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3273A>G (p.Leu1091=) |
single nucleotide variant |
Inborn genetic diseases [RCV002316562]|Intellectual disability, autosomal dominant 5 [RCV000553036]|SYNGAP1-related disorder [RCV004553238]|not provided [RCV001535178] |
Chr6:33443825 [GRCh38]
Chr6:33411602 [GRCh37]
Chr6:6p21.32 |
benign|likely benign |
| NM_006772.3(SYNGAP1):c.949del (p.Leu317fs) |
deletion |
not provided [RCV000521952] |
Chr6:33437853 [GRCh38]
Chr6:33405630 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.472C>T (p.Gln158Ter) |
single nucleotide variant |
not provided [RCV000489135] |
Chr6:33432769 [GRCh38]
Chr6:33400546 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1167del (p.Gly391fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV003615931]|not provided [RCV003159413] |
Chr6:33438072 [GRCh38]
Chr6:33405849 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1531G>C (p.Gly511Arg) |
single nucleotide variant |
not provided [RCV000519855] |
Chr6:33438563 [GRCh38]
Chr6:33406340 [GRCh37]
Chr6:6p21.32 |
pathogenic|likely pathogenic |
| NM_006772.3(SYNGAP1):c.59C>T (p.Pro20Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002488363]|not provided [RCV001544829] |
Chr6:33420323 [GRCh38]
Chr6:33388100 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2353C>T (p.Arg785Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000526257] |
Chr6:33442905 [GRCh38]
Chr6:33410682 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.663+1G>A |
single nucleotide variant |
SYNGAP1-related disorder [RCV004551600]|not provided [RCV000488038] |
Chr6:33435306 [GRCh38]
Chr6:33403083 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.3922C>T (p.Arg1308Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002568292]|not provided [RCV001547505] |
Chr6:33451796 [GRCh38]
Chr6:33419573 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.2525_2528dup (p.Met843fs) |
duplication |
not provided [RCV001269801] |
Chr6:33443075..33443076 [GRCh38]
Chr6:33410852..33410853 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.3380G>C (p.Gly1127Ala) |
single nucleotide variant |
Complex neurodevelopmental disorder [RCV001265528]|Inborn genetic diseases [RCV002455950]|Intellectual disability, autosomal dominant 5 [RCV001034095]|not provided [RCV000488945] |
Chr6:33443932 [GRCh38]
Chr6:33411709 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.3806T>A (p.Val1269Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV000623409] |
Chr6:33447854 [GRCh38]
Chr6:33415631 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3662G>A (p.Arg1221Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001522591]|not specified [RCV000516746] |
Chr6:33446654 [GRCh38]
Chr6:33414431 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.1630C>T (p.Arg544Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV002529771]|Intellectual disability, autosomal dominant 5 [RCV000626018]|not provided [RCV001092254] |
Chr6:33438873 [GRCh38]
Chr6:33406650 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2714G>A (p.Arg905His) |
single nucleotide variant |
Inborn genetic diseases [RCV000622999] |
Chr6:33443266 [GRCh38]
Chr6:33411043 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1465C>T (p.Leu489Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV000624311]|not provided [RCV003321695] |
Chr6:33438497 [GRCh38]
Chr6:33406274 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3457C>T (p.Arg1153Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV000624436] |
Chr6:33444492 [GRCh38]
Chr6:33412269 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.820C>T (p.Leu274=) |
single nucleotide variant |
not provided [RCV001092250] |
Chr6:33437725 [GRCh38]
Chr6:33405502 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.4013G>A (p.Arg1338Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001208460]|not provided [RCV000520599] |
Chr6:33451887 [GRCh38]
Chr6:33419664 [GRCh37]
Chr6:6p21.32 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_006772.3(SYNGAP1):c.3036del (p.Ser1013fs) |
deletion |
not provided [RCV000598573] |
Chr6:33443586 [GRCh38]
Chr6:33411363 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.886T>G (p.Ser296Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000527897] |
Chr6:33437791 [GRCh38]
Chr6:33405568 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3246delinsAA (p.Pro1084fs) |
indel |
not provided [RCV000599113] |
Chr6:33443798 [GRCh38]
Chr6:33411575 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1345dup (p.Ser449fs) |
duplication |
not provided [RCV000598905] |
Chr6:33438249..33438250 [GRCh38]
Chr6:33406026..33406027 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2418del (p.Tyr807fs) |
deletion |
not provided [RCV000599432] |
Chr6:33442970 [GRCh38]
Chr6:33410747 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2948G>A (p.Ser983Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001427803] |
Chr6:33443500 [GRCh38]
Chr6:33411277 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1495del (p.Arg499fs) |
deletion |
Inborn genetic diseases [RCV000623462] |
Chr6:33438527 [GRCh38]
Chr6:33406304 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3642del (p.Lys1215fs) |
deletion |
Inborn genetic diseases [RCV000623469] |
Chr6:33446633 [GRCh38]
Chr6:33414410 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3415_3416del (p.Gln1139fs) |
deletion |
not provided [RCV000599415] |
Chr6:33444450..33444451 [GRCh38]
Chr6:33412227..33412228 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3408+1G>A |
single nucleotide variant |
Inborn genetic diseases [RCV000623655] |
Chr6:33443961 [GRCh38]
Chr6:33411738 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3416dup (p.Thr1140fs) |
duplication |
Inborn genetic diseases [RCV000623863]|Intellectual disability, autosomal dominant 5 [RCV001090141] |
Chr6:33444450..33444451 [GRCh38]
Chr6:33412227..33412228 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.790_798del (p.Leu264_Leu266del) |
deletion |
not provided [RCV000656262] |
Chr6:33437693..33437701 [GRCh38]
Chr6:33405470..33405478 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2596G>T (p.Val866Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000541259] |
Chr6:33443148 [GRCh38]
Chr6:33410925 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3200del (p.Pro1067fs) |
deletion |
Cerebellar ataxia [RCV000414895]|Intellectual disability, autosomal dominant 5 [RCV001198243] |
Chr6:33443751 [GRCh38]
Chr6:33411528 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.1285C>T (p.Arg429Trp) |
single nucleotide variant |
Global developmental delay [RCV000449511]|Intellectual disability, autosomal dominant 5 [RCV001238256]|not provided [RCV000415840] |
Chr6:33438190 [GRCh38]
Chr6:33405967 [GRCh37]
Chr6:6p21.32 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006772.3(SYNGAP1):c.857_864dup (p.Met289fs) |
duplication |
Intellectual disability, autosomal dominant 5 [RCV000534618] |
Chr6:33437760..33437761 [GRCh38]
Chr6:33405537..33405538 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1517T>C (p.Leu506Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001252124] |
Chr6:33438549 [GRCh38]
Chr6:33406326 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.2(SYNGAP1):c.1532_1534del |
deletion |
Intellectual disability, autosomal dominant 5 [RCV001252125] |
Chr6:33438773..33438775 [GRCh38]
Chr6:33406550..33406552 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.2115G>A (p.Lys705=) |
single nucleotide variant |
Global developmental delay [RCV000415313]|Intellectual disability, autosomal dominant 5 [RCV001865299] |
Chr6:33441374 [GRCh38]
Chr6:33409151 [GRCh37]
Chr6:6p21.32 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006772.3(SYNGAP1):c.1053del (p.Thr352fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV000537489] |
Chr6:33437957 [GRCh38]
Chr6:33405734 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.490C>T (p.Arg164Ter) |
single nucleotide variant |
Complex neurodevelopmental disorder [RCV001265346]|Intellectual disability, autosomal dominant 5 [RCV000496106]|not provided [RCV000412753] |
Chr6:33432787 [GRCh38]
Chr6:33400564 [GRCh37]
Chr6:6p21.32 |
pathogenic|likely pathogenic |
| NM_006772.3(SYNGAP1):c.1716G>A (p.Trp572Ter) |
single nucleotide variant |
not provided [RCV000412895] |
Chr6:33440768 [GRCh38]
Chr6:33408545 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1393del (p.Leu465fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV003615837]|not provided [RCV000413721] |
Chr6:33438424 [GRCh38]
Chr6:33406201 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1532-5C>G |
single nucleotide variant |
Inborn genetic diseases [RCV002404491]|Intellectual disability, autosomal dominant 5 [RCV001516766]|not provided [RCV000536356] |
Chr6:33438770 [GRCh38]
Chr6:33406547 [GRCh37]
Chr6:6p21.32 |
benign|likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.509+5A>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000689210]|not provided [RCV000421311] |
Chr6:33432811 [GRCh38]
Chr6:33400588 [GRCh37]
Chr6:6p21.32 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_006772.3(SYNGAP1):c.484C>T (p.Arg162Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000505188]|not provided [RCV003114632] |
Chr6:33432781 [GRCh38]
Chr6:33400558 [GRCh37]
Chr6:6p21.32 |
pathogenic|likely pathogenic |
| NM_006772.3(SYNGAP1):c.1631G>C (p.Arg544Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002404317]|Intellectual disability, autosomal dominant 5 [RCV000505252] |
Chr6:33438874 [GRCh38]
Chr6:33406651 [GRCh37]
Chr6:6p21.32 |
likely pathogenic|uncertain significance |
| NM_006772.3(SYNGAP1):c.922T>C (p.Trp308Arg) |
single nucleotide variant |
not provided [RCV000433653] |
Chr6:33437827 [GRCh38]
Chr6:33405604 [GRCh37]
Chr6:6p21.32 |
pathogenic|likely pathogenic |
| NM_006772.3(SYNGAP1):c.2362T>A (p.Ser788Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003615838]|not provided [RCV000437108] |
Chr6:33442914 [GRCh38]
Chr6:33410691 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3824G>T (p.Arg1275Leu) |
single nucleotide variant |
not provided [RCV000438274] |
Chr6:33447872 [GRCh38]
Chr6:33415649 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.509G>A (p.Arg170Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000417030]|not provided [RCV004797809] |
Chr6:33432806 [GRCh38]
Chr6:33400583 [GRCh37]
Chr6:6p21.32 |
pathogenic|likely pathogenic |
| NM_006772.3(SYNGAP1):c.1685del (p.Pro562fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV000417098] |
Chr6:33440735 [GRCh38]
Chr6:33408512 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1908_1909del (p.Ser637fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV000417100] |
Chr6:33440958..33440959 [GRCh38]
Chr6:33408735..33408736 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.583G>C (p.Ala195Pro) |
single nucleotide variant |
Epileptic encephalopathy [RCV000416992] |
Chr6:33435225 [GRCh38]
Chr6:33403002 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.3134C>G (p.Ala1045Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002311794]|Intellectual disability, autosomal dominant 5 [RCV001084925]|SYNGAP1-related disorder [RCV004551572]|not provided [RCV000713260] |
Chr6:33443686 [GRCh38]
Chr6:33411463 [GRCh37]
Chr6:6p21.32 |
benign|likely benign |
| NM_006772.3(SYNGAP1):c.1803G>A (p.Ala601=) |
single nucleotide variant |
Inborn genetic diseases [RCV002318567]|Intellectual disability, autosomal dominant 5 [RCV000466848]|SYNGAP1-related disorder [RCV004551571]|not provided [RCV001653853]|not specified [RCV001662445] |
Chr6:33440855 [GRCh38]
Chr6:33408632 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.1861C>T (p.Arg621Ter) |
single nucleotide variant |
Complex neurodevelopmental disorder [RCV001265347]|Intellectual disability, autosomal dominant 5 [RCV000470395]|Neurodevelopmental delay [RCV002274036]|not provided [RCV003227762] |
Chr6:33440913 [GRCh38]
Chr6:33408690 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3227del (p.Gln1075_Leu1076insTer) |
deletion |
not provided [RCV000481505] |
Chr6:33443778 [GRCh38]
Chr6:33411555 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3957C>A (p.Ala1319=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000459458] |
Chr6:33451831 [GRCh38]
Chr6:33419608 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1935T>C (p.Phe645=) |
single nucleotide variant |
Inborn genetic diseases [RCV002413305]|Intellectual disability, autosomal dominant 5 [RCV000467328]|not provided [RCV001692141]|not specified [RCV000504022] |
Chr6:33441194 [GRCh38]
Chr6:33408971 [GRCh37]
Chr6:6p21.32 |
benign|likely benign |
| NM_006772.3(SYNGAP1):c.3198T>G (p.Pro1066=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000471052]|SYNGAP1-related disorder [RCV004551573]|not provided [RCV001310910] |
Chr6:33443750 [GRCh38]
Chr6:33411527 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1763T>A (p.Leu588His) |
single nucleotide variant |
not provided [RCV000482286] |
Chr6:33440815 [GRCh38]
Chr6:33408592 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.2910G>A (p.Glu970=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000456240]|not specified [RCV001821380] |
Chr6:33443462 [GRCh38]
Chr6:33411239 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2147G>A (p.Arg716Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000459972]|not provided [RCV004721380] |
Chr6:33441612 [GRCh38]
Chr6:33409389 [GRCh37]
Chr6:6p21.32 |
pathogenic|likely pathogenic|uncertain significance |
| NM_006772.3(SYNGAP1):c.166C>T (p.Leu56=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002525735] |
Chr6:33423575 [GRCh38]
Chr6:33391352 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3583-7C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000464084] |
Chr6:33446568 [GRCh38]
Chr6:33414345 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.3297T>C (p.Tyr1099=) |
single nucleotide variant |
Inborn genetic diseases [RCV002313233]|Intellectual disability, autosomal dominant 5 [RCV000467845]|not provided [RCV001653854] |
Chr6:33443849 [GRCh38]
Chr6:33411626 [GRCh37]
Chr6:6p21.32 |
benign|likely benign |
| NM_006772.3(SYNGAP1):c.3582+7T>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000475102]|not provided [RCV001706644] |
Chr6:33444624 [GRCh38]
Chr6:33412401 [GRCh37]
Chr6:6p21.32 |
benign|likely benign |
| NM_006772.3(SYNGAP1):c.2394G>A (p.Pro798=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001493878]|not provided [RCV003884567] |
Chr6:33442946 [GRCh38]
Chr6:33410723 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1167_1168del (p.Gly391fs) |
deletion |
Inborn genetic diseases [RCV004022880]|Intellectual disability, autosomal dominant 5 [RCV000457705]|not provided [RCV000482994] |
Chr6:33438072..33438073 [GRCh38]
Chr6:33405849..33405850 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp) |
single nucleotide variant |
Intellectual disability [RCV001260776]|Intellectual disability, autosomal dominant 5 [RCV000656412]|not provided [RCV000483715] |
Chr6:33440769 [GRCh38]
Chr6:33408546 [GRCh37]
Chr6:6p21.32 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_006772.3(SYNGAP1):c.296-8C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000457293]|SYNGAP1-related disorder [RCV004551570]|not provided [RCV001692140] |
Chr6:33432153 [GRCh38]
Chr6:33399930 [GRCh37]
Chr6:6p21.32 |
benign|likely benign |
| NM_006772.3(SYNGAP1):c.315G>T (p.Ser105=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001469651] |
Chr6:33432180 [GRCh38]
Chr6:33399957 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2916del (p.Asp974fs) |
deletion |
Inborn genetic diseases [RCV000624221]|not provided [RCV000485030] |
Chr6:33443468 [GRCh38]
Chr6:33411245 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 |
copy number gain |
See cases [RCV000512067] |
Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2104_2115+14del |
deletion |
Intellectual disability, autosomal dominant 5 [RCV000476459] |
Chr6:33441360..33441385 [GRCh38]
Chr6:33409137..33409162 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.3471G>A (p.Trp1157Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003615842]|not provided [RCV000478343] |
Chr6:33444506 [GRCh38]
Chr6:33412283 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3820C>T (p.Arg1274Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000469274] |
Chr6:33447868 [GRCh38]
Chr6:33415645 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3171C>T (p.Ser1057=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001506601]|not provided [RCV000473226] |
Chr6:33443723 [GRCh38]
Chr6:33411500 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3913A>G (p.Thr1305Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002318530]|Intellectual disability, autosomal dominant 5 [RCV000477067]|not provided [RCV001805077] |
Chr6:33451787 [GRCh38]
Chr6:33419564 [GRCh37]
Chr6:6p21.32 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006772.3(SYNGAP1):c.2578G>A (p.Val860Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001518397] |
Chr6:33443130 [GRCh38]
Chr6:33410907 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.1812G>A (p.Ser604=) |
single nucleotide variant |
Inborn genetic diseases [RCV002311795]|Intellectual disability, autosomal dominant 5 [RCV000462652]|SYNGAP1-related disorder [RCV004740251]|not provided [RCV001726186] |
Chr6:33440864 [GRCh38]
Chr6:33408641 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000477576]|Motor delay [RCV000626901]|See cases [RCV003128403]|not provided [RCV000498682] |
Chr6:33441318 [GRCh38]
Chr6:33409095 [GRCh37]
Chr6:6p21.32 |
pathogenic|likely pathogenic |
| NM_006772.3(SYNGAP1):c.1925A>C (p.Lys642Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000503272] |
Chr6:33441184 [GRCh38]
Chr6:33408961 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.1865CCCTCA[1] (p.622TL[1]) |
microsatellite |
not specified [RCV000501219] |
Chr6:33440916..33440921 [GRCh38]
Chr6:33408693..33408698 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3190C>T (p.Gln1064Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000496165] |
Chr6:33443742 [GRCh38]
Chr6:33411519 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2983C>T (p.Pro995Ser) |
single nucleotide variant |
not specified [RCV000501554] |
Chr6:33443535 [GRCh38]
Chr6:33411312 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2724G>C (p.Gln908His) |
single nucleotide variant |
Inborn genetic diseases [RCV001266263]|Intellectual disability, autosomal dominant 5 [RCV000540189]|not provided [RCV001770383]|not specified [RCV000501753] |
Chr6:33443276 [GRCh38]
Chr6:33411053 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.2899C>T (p.Arg967Ter) |
single nucleotide variant |
Complex neurodevelopmental disorder [RCV001265349]|Intellectual disability, autosomal dominant 5 [RCV000499432]|not provided [RCV001724031] |
Chr6:33443451 [GRCh38]
Chr6:33411228 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2206C>T (p.Arg736Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001333577]|not specified [RCV000499565] |
Chr6:33441671 [GRCh38]
Chr6:33409448 [GRCh37]
Chr6:6p21.32 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_006772.3(SYNGAP1):c.272A>G (p.Glu91Gly) |
single nucleotide variant |
not specified [RCV000504349] |
Chr6:33425880 [GRCh38]
Chr6:33393657 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3363C>T (p.Ser1121=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001398313]|not specified [RCV000504549] |
Chr6:33443915 [GRCh38]
Chr6:33411692 [GRCh37]
Chr6:6p21.32 |
pathogenic|likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.2664C>T (p.Ala888=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000645753]|not provided [RCV001584222]|not specified [RCV000502388] |
Chr6:33443216 [GRCh38]
Chr6:33410993 [GRCh37]
Chr6:6p21.32 |
likely benign |
| GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) |
copy number gain |
See cases [RCV000510595] |
Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27 |
pathogenic |
| NM_006772.3(SYNGAP1):c.447A>G (p.Lys149=) |
single nucleotide variant |
Inborn genetic diseases [RCV002329203]|Intellectual disability, autosomal dominant 5 [RCV000645764]|not provided [RCV001653863]|not specified [RCV000500263] |
Chr6:33432744 [GRCh38]
Chr6:33400521 [GRCh37]
Chr6:6p21.32 |
benign|likely benign |
| NM_006772.3(SYNGAP1):c.2067C>T (p.Leu689=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003615843]|not specified [RCV000500322] |
Chr6:33441326 [GRCh38]
Chr6:33409103 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2168C>T (p.Thr723Ile) |
single nucleotide variant |
not specified [RCV000502643] |
Chr6:33441633 [GRCh38]
Chr6:33409410 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.156G>A (p.Ser52=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000707502]|not specified [RCV000502938] |
Chr6:33423565 [GRCh38]
Chr6:33391342 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.140G>A (p.Arg47Gln) |
single nucleotide variant |
not specified [RCV000500838] |
Chr6:33423549 [GRCh38]
Chr6:33391326 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3722_3723del (p.Leu1241fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV000503187] |
Chr6:33446714..33446715 [GRCh38]
Chr6:33414491..33414492 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.333del (p.Lys114fs) |
deletion |
Inborn genetic diseases [RCV000624491]|Infantile epilepsy syndrome [RCV001265345]|Intellectual disability, autosomal dominant 5 [RCV000689750]|not provided [RCV000493489] |
Chr6:33432198 [GRCh38]
Chr6:33399975 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1792del (p.Leu598fs) |
deletion |
not provided [RCV000493033] |
Chr6:33440843 [GRCh38]
Chr6:33408620 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.403C>T (p.Arg135Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV000623941]|Intellectual disability, autosomal dominant 5 [RCV001205064]|Intellectual disability, autosomal recessive 5 [RCV000495902]|not provided [RCV001541131] |
Chr6:33432700 [GRCh38]
Chr6:33400477 [GRCh37]
Chr6:6p21.32 |
pathogenic|likely pathogenic |
| NM_006772.3(SYNGAP1):c.1529T>G (p.Ile510Ser) |
single nucleotide variant |
not provided [RCV000521491] |
Chr6:33438561 [GRCh38]
Chr6:33406338 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.2068T>C (p.Ser690Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001213641] |
Chr6:33441327 [GRCh38]
Chr6:33409104 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3114C>T (p.Thr1038=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000533499] |
Chr6:33443666 [GRCh38]
Chr6:33411443 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2628G>A (p.Ser876=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000555980] |
Chr6:33443180 [GRCh38]
Chr6:33410957 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.384dup (p.Ser129fs) |
duplication |
Intellectual disability, autosomal dominant 5 [RCV000535060] |
Chr6:33432246..33432247 [GRCh38]
Chr6:33400023..33400024 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1312G>A (p.Ala438Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000645741] |
Chr6:33438217 [GRCh38]
Chr6:33405994 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2506A>G (p.Ser836Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000645742] |
Chr6:33443058 [GRCh38]
Chr6:33410835 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1604G>C (p.Ser535Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000645744] |
Chr6:33438847 [GRCh38]
Chr6:33406624 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.1581C>T (p.Asp527=) |
single nucleotide variant |
Inborn genetic diseases [RCV002397252]|Intellectual disability, autosomal dominant 5 [RCV000645747]|SYNGAP1-related disorder [RCV004547816]|not provided [RCV001672914] |
Chr6:33438824 [GRCh38]
Chr6:33406601 [GRCh37]
Chr6:6p21.32 |
benign|likely benign |
| NM_006772.3(SYNGAP1):c.1962G>A (p.Glu654=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000645749]|not provided [RCV000659049] |
Chr6:33441221 [GRCh38]
Chr6:33408998 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.2316C>T (p.Phe772=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001461700]|SYNGAP1-related disorder [RCV004740385] |
Chr6:33442474 [GRCh38]
Chr6:33410251 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.255A>G (p.Thr85=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000645766] |
Chr6:33425863 [GRCh38]
Chr6:33393640 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.45G>A (p.Ala15=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000645765] |
Chr6:33420309 [GRCh38]
Chr6:33388086 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2856C>T (p.Gly952=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000645761]|SYNGAP1-related disorder [RCV004547818]|not provided [RCV001675950] |
Chr6:33443408 [GRCh38]
Chr6:33411185 [GRCh37]
Chr6:6p21.32 |
benign|likely benign |
| NM_006772.3(SYNGAP1):c.3771C>A (p.Ser1257=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000645760] |
Chr6:33446763 [GRCh38]
Chr6:33414540 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1677-9T>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000645758]|not provided [RCV001597195] |
Chr6:33440720 [GRCh38]
Chr6:33408497 [GRCh37]
Chr6:6p21.32 |
benign|likely benign |
| NM_006772.3(SYNGAP1):c.198C>G (p.Pro66=) |
single nucleotide variant |
Inborn genetic diseases [RCV002422340]|Intellectual disability, autosomal dominant 5 [RCV000645757]|not provided [RCV001653967] |
Chr6:33425806 [GRCh38]
Chr6:33393583 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3582+7T>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000645756] |
Chr6:33444624 [GRCh38]
Chr6:33412401 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3369C>T (p.Gly1123=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000645755]|not provided [RCV001200294] |
Chr6:33443921 [GRCh38]
Chr6:33411698 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.67+15del |
deletion |
Intellectual disability, autosomal dominant 5 [RCV000645754] |
Chr6:33420341 [GRCh38]
Chr6:33388118 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.739C>T (p.Gln247Ter) |
single nucleotide variant |
Complex neurodevelopmental disorder [RCV001265351]|Intellectual disability, autosomal dominant 5 [RCV000590939] |
Chr6:33435590 [GRCh38]
Chr6:33403367 [GRCh37]
Chr6:6p21.32 |
pathogenic|likely pathogenic |
| NM_006772.3(SYNGAP1):c.102C>T (p.Tyr34=) |
single nucleotide variant |
Inborn genetic diseases [RCV002384177]|Intellectual disability, autosomal dominant 5 [RCV000558744]|not provided [RCV001683574] |
Chr6:33423511 [GRCh38]
Chr6:33391288 [GRCh37]
Chr6:6p21.32 |
benign|likely benign |
| NM_006772.3(SYNGAP1):c.1697_1700dup (p.Val568fs) |
duplication |
Global developmental delay [RCV000626900] |
Chr6:33440746..33440747 [GRCh38]
Chr6:33408523..33408524 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.2998A>G (p.Ile1000Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003615947]|SYNGAP1-related disorder [RCV003313719] |
Chr6:33443550 [GRCh38]
Chr6:33411327 [GRCh37]
Chr6:6p21.32 |
uncertain significance|not provided |
| NM_006772.3(SYNGAP1):c.3958C>T (p.Pro1320Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000557095] |
Chr6:33451832 [GRCh38]
Chr6:33419609 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1718G>T (p.Arg573Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV000624689] |
Chr6:33440770 [GRCh38]
Chr6:33408547 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.3794G>C (p.Arg1265Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV000624340] |
Chr6:33446786 [GRCh38]
Chr6:33414563 [GRCh37]
Chr6:6p21.32 |
likely pathogenic|uncertain significance |
| NM_006772.3(SYNGAP1):c.2627C>T (p.Ser876Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003615949]|not provided [RCV003314869] |
Chr6:33443179 [GRCh38]
Chr6:33410956 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.57C>T (p.Ala19=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000535399] |
Chr6:33420321 [GRCh38]
Chr6:33388098 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.862G>A (p.Asp288Asn) |
single nucleotide variant |
not provided [RCV003314089] |
Chr6:33437767 [GRCh38]
Chr6:33405544 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2658G>A (p.Ala886=) |
single nucleotide variant |
Inborn genetic diseases [RCV002317377]|Intellectual disability, autosomal dominant 5 [RCV000625154]|not provided [RCV001562158] |
Chr6:33443210 [GRCh38]
Chr6:33410987 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.34_35del (p.Ser12fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV000585865] |
Chr6:33420297..33420298 [GRCh38]
Chr6:33388074..33388075 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.1621G>C (p.Ala541Pro) |
single nucleotide variant |
not provided [RCV000512950] |
Chr6:33438864 [GRCh38]
Chr6:33406641 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.266C>T (p.Pro89Leu) |
single nucleotide variant |
not provided [RCV000513160] |
Chr6:33425874 [GRCh38]
Chr6:33393651 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.628_631dup (p.Ser211fs) |
microsatellite |
Inborn genetic diseases [RCV000623299] |
Chr6:33435269..33435270 [GRCh38]
Chr6:33403046..33403047 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2864C>T (p.Ser955Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002311827]|Intellectual disability, autosomal dominant 5 [RCV000764648]|not provided [RCV000513313] |
Chr6:33443416 [GRCh38]
Chr6:33411193 [GRCh37]
Chr6:6p21.32 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006772.3(SYNGAP1):c.163C>A (p.Gln55Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV000623513]|Intellectual disability, autosomal dominant 5 [RCV001300832] |
Chr6:33423572 [GRCh38]
Chr6:33391349 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3060del (p.Gln1021fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV000645730] |
Chr6:33443611 [GRCh38]
Chr6:33411388 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3233_3236del (p.Val1078fs) |
deletion |
Inborn genetic diseases [RCV001266087]|Intellectual disability, autosomal dominant 5 [RCV000645731]|not provided [RCV003322802] |
Chr6:33443782..33443785 [GRCh38]
Chr6:33411559..33411562 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2900G>A (p.Arg967Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002440314]|Intellectual disability, autosomal dominant 5 [RCV000645732] |
Chr6:33443452 [GRCh38]
Chr6:33411229 [GRCh37]
Chr6:6p21.32 |
benign|likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.3495G>A (p.Ser1165=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000645733]|SYNGAP1-related disorder [RCV004740384]|not provided [RCV001551708] |
Chr6:33444530 [GRCh38]
Chr6:33412307 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.3848C>T (p.Pro1283Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000645734] |
Chr6:33447896 [GRCh38]
Chr6:33415673 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.2596G>A (p.Val866Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002317404]|Intellectual disability, autosomal dominant 5 [RCV000645735] |
Chr6:33443148 [GRCh38]
Chr6:33410925 [GRCh37]
Chr6:6p21.32 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_006772.3(SYNGAP1):c.1408A>C (p.Met470Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001465356] |
Chr6:33438440 [GRCh38]
Chr6:33406217 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.3181G>T (p.Gly1061Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000645737]|not provided [RCV001766386] |
Chr6:33443733 [GRCh38]
Chr6:33411510 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.199del (p.Leu67fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV000645738] |
Chr6:33425803 [GRCh38]
Chr6:33393580 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3583-9G>A |
single nucleotide variant |
Complex neurodevelopmental disorder [RCV001265158]|Intellectual disability, autosomal dominant 5 [RCV000645739]|Intellectual disability, autosomal dominant 5 [RCV001824853]|not provided [RCV001731838] |
Chr6:33446566 [GRCh38]
Chr6:33414343 [GRCh37]
Chr6:6p21.32 |
pathogenic|not provided |
| NM_006772.3(SYNGAP1):c.249A>T (p.Arg83Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000645740] |
Chr6:33425857 [GRCh38]
Chr6:33393634 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3092T>C (p.Met1031Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000645743] |
Chr6:33443644 [GRCh38]
Chr6:33411421 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.432G>A (p.Thr144=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000645745] |
Chr6:33432729 [GRCh38]
Chr6:33400506 [GRCh37]
Chr6:6p21.32 |
likely benign|conflicting interpretations of pathogenicity |
| NM_006772.3(SYNGAP1):c.33G>A (p.Gly11=) |
single nucleotide variant |
Inborn genetic diseases [RCV002317405]|Intellectual disability, autosomal dominant 5 [RCV000645746]|not provided [RCV001546300] |
Chr6:33420297 [GRCh38]
Chr6:33388074 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.582G>A (p.Glu194=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001451083] |
Chr6:33435224 [GRCh38]
Chr6:33403001 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3969A>C (p.Pro1323=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000645750] |
Chr6:33451843 [GRCh38]
Chr6:33419620 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1723C>T (p.Arg575Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002397253]|Intellectual disability, autosomal dominant 5 [RCV000645752]|SYNGAP1-related disorder [RCV004547817] |
Chr6:33440775 [GRCh38]
Chr6:33408552 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.3706C>T (p.Gln1236Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV000622968]|Intellectual disability, autosomal dominant 5 [RCV001050171] |
Chr6:33446698 [GRCh38]
Chr6:33414475 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.698_699dup (p.Arg234fs) |
duplication |
Inborn genetic diseases [RCV000623318] |
Chr6:33435547..33435548 [GRCh38]
Chr6:33403324..33403325 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1891C>T (p.Gln631Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV000623575] |
Chr6:33440943 [GRCh38]
Chr6:33408720 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.510-2A>G |
single nucleotide variant |
Inborn genetic diseases [RCV000623683] |
Chr6:33435150 [GRCh38]
Chr6:33402927 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3972A>C (p.Pro1324=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000645763] |
Chr6:33451846 [GRCh38]
Chr6:33419623 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3978A>C (p.Pro1326=) |
single nucleotide variant |
Inborn genetic diseases [RCV002315968]|Intellectual disability, autosomal dominant 5 [RCV000645762] |
Chr6:33451852 [GRCh38]
Chr6:33419629 [GRCh37]
Chr6:6p21.32 |
benign|likely benign |
| NM_006772.3(SYNGAP1):c.2195G>A (p.Arg732Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002528918]|Intellectual disability, autosomal dominant 5 [RCV000645759] |
Chr6:33441660 [GRCh38]
Chr6:33409437 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.1505G>A (p.Gly502Asp) |
single nucleotide variant |
not provided [RCV000513622] |
Chr6:33438537 [GRCh38]
Chr6:33406314 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3624G>C (p.Arg1208=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003615844]|not provided [RCV000513663] |
Chr6:33446616 [GRCh38]
Chr6:33414393 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.2669G>C (p.Arg890Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002533505]|Intellectual disability, autosomal dominant 5 [RCV000697971] |
Chr6:33443221 [GRCh38]
Chr6:33410998 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.1205T>G (p.Leu402Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000677430] |
Chr6:33438110 [GRCh38]
Chr6:33405887 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.2979dup (p.Lys994fs) |
duplication |
not provided [RCV000659050] |
Chr6:33443527..33443528 [GRCh38]
Chr6:33411304..33411305 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.256G>A (p.Val86Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002314363] |
Chr6:33425864 [GRCh38]
Chr6:33393641 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2562_2578del (p.Leu855fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV000680114] |
Chr6:33443113..33443129 [GRCh38]
Chr6:33410890..33410906 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3374G>C (p.Gly1125Ala) |
single nucleotide variant |
not provided [RCV001760465] |
Chr6:33443926 [GRCh38]
Chr6:33411703 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1998G>C (p.Glu666Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000714662] |
Chr6:33441257 [GRCh38]
Chr6:33409034 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2804CTG[1] (p.Ala936del) |
microsatellite |
Intellectual disability, autosomal dominant 5 [RCV000700508] |
Chr6:33443355..33443357 [GRCh38]
Chr6:33411132..33411134 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.59C>G (p.Pro20Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000686352] |
Chr6:33420323 [GRCh38]
Chr6:33388100 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2635_2636delinsAA (p.Ala879Lys) |
indel |
Intellectual disability, autosomal dominant 5 [RCV001414895] |
Chr6:33443187..33443188 [GRCh38]
Chr6:33410964..33410965 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.1224_1226del (p.Met409del) |
deletion |
not provided [RCV001814668] |
Chr6:33438129..33438131 [GRCh38]
Chr6:33405906..33405908 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2726del (p.Met909fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV000688563] |
Chr6:33443278 [GRCh38]
Chr6:33411055 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2818_2852del (p.Gly940fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV000698578] |
Chr6:33443365..33443399 [GRCh38]
Chr6:33411142..33411176 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1862G>A (p.Arg621Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000701058] |
Chr6:33440914 [GRCh38]
Chr6:33408691 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.878del (p.Arg293fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV000707018] |
Chr6:33437783 [GRCh38]
Chr6:33405560 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3900C>A (p.Pro1300=) |
single nucleotide variant |
Inborn genetic diseases [RCV002314468] |
Chr6:33451774 [GRCh38]
Chr6:33419551 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.297A>G (p.Glu99=) |
single nucleotide variant |
Inborn genetic diseases [RCV002313467] |
Chr6:33432162 [GRCh38]
Chr6:33399939 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2272dup (p.Tyr758fs) |
duplication |
Intellectual disability, autosomal dominant 5 [RCV000687566] |
Chr6:33441736..33441737 [GRCh38]
Chr6:33409513..33409514 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1235dup (p.Leu412fs) |
duplication |
Intellectual disability, autosomal dominant 5 [RCV000690613] |
Chr6:33438138..33438139 [GRCh38]
Chr6:33405915..33405916 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.121C>T (p.Arg41Cys) |
single nucleotide variant |
Intellectual disability [RCV001260775]|Intellectual disability, autosomal dominant 5 [RCV000691962]|not provided [RCV001771955] |
Chr6:33423530 [GRCh38]
Chr6:33391307 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.3308G>A (p.Arg1103His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000700156]|not provided [RCV002263943] |
Chr6:33443860 [GRCh38]
Chr6:33411637 [GRCh37]
Chr6:6p21.32 |
benign|likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.878G>C (p.Arg293Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000692134] |
Chr6:33437783 [GRCh38]
Chr6:33405560 [GRCh37]
Chr6:6p21.32 |
likely pathogenic|uncertain significance |
| NM_006772.3(SYNGAP1):c.3124C>T (p.Gln1042Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000697308] |
Chr6:33443676 [GRCh38]
Chr6:33411453 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1001del (p.Lys334fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV000693257] |
Chr6:33437902 [GRCh38]
Chr6:33405679 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.407G>C (p.Arg136Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000702594] |
Chr6:33432704 [GRCh38]
Chr6:33400481 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2369C>A (p.Thr790Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002458211]|Intellectual disability, autosomal dominant 5 [RCV000688628]|not provided [RCV003432731] |
Chr6:33442921 [GRCh38]
Chr6:33410698 [GRCh37]
Chr6:6p21.32 |
benign|likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.3121C>T (p.Pro1041Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001472432] |
Chr6:33443673 [GRCh38]
Chr6:33411450 [GRCh37]
Chr6:6p21.32 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006772.3(SYNGAP1):c.708G>A (p.Ala236=) |
single nucleotide variant |
Inborn genetic diseases [RCV002317925]|Intellectual disability, autosomal dominant 5 [RCV000705319]|not provided [RCV001613433] |
Chr6:33435559 [GRCh38]
Chr6:33403336 [GRCh37]
Chr6:6p21.32 |
benign|likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.3811G>T (p.Glu1271Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000699423] |
Chr6:33447859 [GRCh38]
Chr6:33415636 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.4005C>T (p.Gly1335=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000691375]|not provided [RCV001584564] |
Chr6:33451879 [GRCh38]
Chr6:33419656 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.3073C>T (p.Gln1025Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000705614]|not provided [RCV000760930] |
Chr6:33443625 [GRCh38]
Chr6:33411402 [GRCh37]
Chr6:6p21.32 |
pathogenic|likely pathogenic |
| NM_006772.3(SYNGAP1):c.2135_2142del (p.Gly712fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV000696570] |
Chr6:33441599..33441606 [GRCh38]
Chr6:33409376..33409383 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.680G>A (p.Gly227Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002313620]|Intellectual disability, autosomal dominant 5 [RCV001474597] |
Chr6:33435531 [GRCh38]
Chr6:33403308 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.3209G>A (p.Arg1070Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002314387]|Intellectual disability, autosomal dominant 5 [RCV001862026] |
Chr6:33443761 [GRCh38]
Chr6:33411538 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.372G>A (p.Ala124=) |
single nucleotide variant |
Inborn genetic diseases [RCV002314593]|Intellectual disability, autosomal dominant 5 [RCV002534553]|not provided [RCV004808860] |
Chr6:33432237 [GRCh38]
Chr6:33400014 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2460C>T (p.Tyr820=) |
single nucleotide variant |
Inborn genetic diseases [RCV002315267]|Intellectual disability, autosomal dominant 5 [RCV003507309] |
Chr6:33443012 [GRCh38]
Chr6:33410789 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3156G>A (p.Gly1052=) |
single nucleotide variant |
Inborn genetic diseases [RCV002315480]|Intellectual disability, autosomal dominant 5 [RCV000862993] |
Chr6:33443708 [GRCh38]
Chr6:33411485 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3508A>G (p.Ser1170Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002318610] |
Chr6:33444543 [GRCh38]
Chr6:33412320 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1677-4C>G |
single nucleotide variant |
Inborn genetic diseases [RCV002318661]|Intellectual disability, autosomal dominant 5 [RCV002534928]|not specified [RCV002233451] |
Chr6:33440725 [GRCh38]
Chr6:33408502 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.3794+2T>C |
single nucleotide variant |
Inborn genetic diseases [RCV002315459] |
Chr6:33446788 [GRCh38]
Chr6:33414565 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.1269T>G (p.Tyr423Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV002318002] |
Chr6:33438174 [GRCh38]
Chr6:33405951 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1973G>A (p.Gly658Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002315340] |
Chr6:33441232 [GRCh38]
Chr6:33409009 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2242C>T (p.Leu748=) |
single nucleotide variant |
Inborn genetic diseases [RCV002318082]|Intellectual disability, autosomal dominant 5 [RCV000865723]|not provided [RCV001545763] |
Chr6:33441707 [GRCh38]
Chr6:33409484 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1055C>A (p.Thr352Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002318330] |
Chr6:33437960 [GRCh38]
Chr6:33405737 [GRCh37]
Chr6:6p21.32 |
likely benign |
| GRCh37/hg19 6p21.32(chr6:33388971-33428369)x3 |
copy number gain |
not provided [RCV000845742] |
Chr6:33388971..33428369 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3449C>T (p.Ala1150Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002316851] |
Chr6:33444484 [GRCh38]
Chr6:33412261 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3886-5T>C |
single nucleotide variant |
Inborn genetic diseases [RCV002317597]|Intellectual disability, autosomal dominant 5 [RCV001439385] |
Chr6:33451755 [GRCh38]
Chr6:33419532 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.509+1G>A |
single nucleotide variant |
Inborn genetic diseases [RCV002316836]|not provided [RCV003442056] |
Chr6:33432807 [GRCh38]
Chr6:33400584 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1446C>A (p.Leu482=) |
single nucleotide variant |
Inborn genetic diseases [RCV002317560]|Intellectual disability, autosomal dominant 5 [RCV000868688]|SYNGAP1-related disorder [RCV004547910]|not provided [RCV001539788] |
Chr6:33438478 [GRCh38]
Chr6:33406255 [GRCh37]
Chr6:6p21.32 |
benign|likely benign |
| NM_006772.3(SYNGAP1):c.2844C>T (p.Gly948=) |
single nucleotide variant |
Inborn genetic diseases [RCV002318328]|Intellectual disability, autosomal dominant 5 [RCV002067066] |
Chr6:33443396 [GRCh38]
Chr6:33411173 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1602_1603del (p.Ser535fs) |
deletion |
not provided [RCV001565725] |
Chr6:33438845..33438846 [GRCh38]
Chr6:33406622..33406623 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3885+157C>G |
single nucleotide variant |
not provided [RCV001547939] |
Chr6:33448090 [GRCh38]
Chr6:33415867 [GRCh37]
Chr6:6p21.32 |
likely benign |
| GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 |
copy number gain |
not provided [RCV000745400] |
Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27 |
pathogenic |
| GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 |
copy number gain |
not provided [RCV000745403] |
Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27 |
pathogenic |
| GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 |
copy number gain |
not provided [RCV000745404] |
Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1393dup (p.Leu465fs) |
duplication |
not provided [RCV001532540] |
Chr6:33438423..33438424 [GRCh38]
Chr6:33406200..33406201 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.1641_1642del (p.Cys547_Glu548delinsTer) |
microsatellite |
Inborn genetic diseases [RCV004039231]|Intellectual disability, autosomal dominant 5 [RCV002568206]|not provided [RCV001532542] |
Chr6:33438882..33438883 [GRCh38]
Chr6:33406659..33406660 [GRCh37]
Chr6:6p21.32 |
pathogenic|likely pathogenic |
| NM_006772.3(SYNGAP1):c.1718G>A (p.Arg573Gln) |
single nucleotide variant |
not provided [RCV001532543] |
Chr6:33440770 [GRCh38]
Chr6:33408547 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.2858C>A (p.Pro953Gln) |
single nucleotide variant |
not provided [RCV001532544] |
Chr6:33443410 [GRCh38]
Chr6:33411187 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.762+32C>T |
single nucleotide variant |
not provided [RCV001647696]|not specified [RCV004594427] |
Chr6:33435645 [GRCh38]
Chr6:33403422 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.1676+213dup |
duplication |
not provided [RCV001725387] |
Chr6:33439119..33439120 [GRCh38]
Chr6:33406896..33406897 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.387+44C>A |
single nucleotide variant |
not provided [RCV001647858] |
Chr6:33432296 [GRCh38]
Chr6:33400073 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.1284T>A (p.Tyr428Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV002386446]|not provided [RCV001547152] |
Chr6:33438189 [GRCh38]
Chr6:33405966 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3269dup (p.Asn1090fs) |
duplication |
Intellectual disability, autosomal dominant 5 [RCV001706830] |
Chr6:33443819..33443820 [GRCh38]
Chr6:33411596..33411597 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.295+39G>T |
single nucleotide variant |
not provided [RCV001690914] |
Chr6:33425942 [GRCh38]
Chr6:33393719 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.3384dup (p.Leu1129fs) |
duplication |
Intellectual disability, autosomal dominant 5 [RCV001004689] |
Chr6:33443930..33443931 [GRCh38]
Chr6:33411707..33411708 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.761dup (p.Asp255fs) |
duplication |
Intellectual disability, autosomal dominant 5 [RCV001004693] |
Chr6:33435610..33435611 [GRCh38]
Chr6:33403387..33403388 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.67+1G>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001004731] |
Chr6:33420332 [GRCh38]
Chr6:33388109 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1492_1493del (p.Met498fs) |
microsatellite |
Intellectual disability, autosomal dominant 5 [RCV001004682] |
Chr6:33438521..33438522 [GRCh38]
Chr6:33406298..33406299 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1408A>G (p.Met470Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003267219] |
Chr6:33438440 [GRCh38]
Chr6:33406217 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1532-3C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000760188] |
Chr6:33438772 [GRCh38]
Chr6:33406549 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1736_1740del (p.Arg579fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV000760192] |
Chr6:33440786..33440790 [GRCh38]
Chr6:33408563..33408567 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1453del (p.Arg485fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV000760232] |
Chr6:33438484 [GRCh38]
Chr6:33406261 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.539dup (p.His181fs) |
duplication |
Intellectual disability, autosomal dominant 5 [RCV000760259] |
Chr6:33435180..33435181 [GRCh38]
Chr6:33402957..33402958 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2104C>T (p.Gln702Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV004017727]|not provided [RCV000760374] |
Chr6:33441363 [GRCh38]
Chr6:33409140 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.68-1G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV004527398]|not provided [RCV000762406] |
Chr6:33423476 [GRCh38]
Chr6:33391253 [GRCh37]
Chr6:6p21.32 |
pathogenic|likely pathogenic |
| NM_006772.3(SYNGAP1):c.1154C>T (p.Ser385Leu) |
single nucleotide variant |
not provided [RCV000762407] |
Chr6:33438059 [GRCh38]
Chr6:33405836 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2525C>A (p.Ser842Tyr) |
single nucleotide variant |
not provided [RCV000762408] |
Chr6:33443077 [GRCh38]
Chr6:33410854 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.2928T>G (p.Phe976Leu) |
single nucleotide variant |
not provided [RCV000762409] |
Chr6:33443480 [GRCh38]
Chr6:33411257 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2494C>T (p.Gln832Ter) |
single nucleotide variant |
not provided [RCV000760567] |
Chr6:33443046 [GRCh38]
Chr6:33410823 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.971G>A (p.Arg324Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003314443]|not provided [RCV003443199] |
Chr6:33437876 [GRCh38]
Chr6:33405653 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2539C>T (p.Gln847Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003987694]|not provided [RCV000760728] |
Chr6:33443091 [GRCh38]
Chr6:33410868 [GRCh37]
Chr6:6p21.32 |
pathogenic|not provided |
| NM_006772.3(SYNGAP1):c.1273_1274del (p.Thr425fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV001043667] |
Chr6:33438177..33438178 [GRCh38]
Chr6:33405954..33405955 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2295-209G>T |
single nucleotide variant |
not provided [RCV001584814] |
Chr6:33442244 [GRCh38]
Chr6:33410021 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.68-79T>G |
single nucleotide variant |
not provided [RCV001641904] |
Chr6:33423398 [GRCh38]
Chr6:33391175 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.*4A>G |
single nucleotide variant |
not provided [RCV001574361] |
Chr6:33451910 [GRCh38]
Chr6:33419687 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2209C>T (p.Gln737Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001031012] |
Chr6:33441674 [GRCh38]
Chr6:33409451 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1255G>T (p.Glu419Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001706870] |
Chr6:33438160 [GRCh38]
Chr6:33405937 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.3041G>T (p.Gly1014Val) |
single nucleotide variant |
not provided [RCV000998587] |
Chr6:33443593 [GRCh38]
Chr6:33411370 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3983G>C (p.Arg1328Pro) |
single nucleotide variant |
not provided [RCV001665956] |
Chr6:33451857 [GRCh38]
Chr6:33419634 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.1224A>G (p.Thr408=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001421079]|not provided [RCV000865034] |
Chr6:33438129 [GRCh38]
Chr6:33405906 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1677-3dup |
duplication |
Intellectual disability, autosomal dominant 5 [RCV001513919] |
Chr6:33440720..33440721 [GRCh38]
Chr6:33408497..33408498 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.3160G>A (p.Gly1054Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001511456] |
Chr6:33443712 [GRCh38]
Chr6:33411489 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.3849G>A (p.Pro1283=) |
single nucleotide variant |
Inborn genetic diseases [RCV002363236]|Intellectual disability, autosomal dominant 5 [RCV000866836] |
Chr6:33447897 [GRCh38]
Chr6:33415674 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1610C>T (p.Ala537Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001400245] |
Chr6:33438853 [GRCh38]
Chr6:33406630 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1728C>T (p.Cys576=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000863647] |
Chr6:33440780 [GRCh38]
Chr6:33408557 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3264C>T (p.Ser1088=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000870615] |
Chr6:33443816 [GRCh38]
Chr6:33411593 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3957C>G (p.Ala1319=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001435942] |
Chr6:33451831 [GRCh38]
Chr6:33419608 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.816G>A (p.Arg272=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000926075] |
Chr6:33437721 [GRCh38]
Chr6:33405498 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1158G>A (p.Gly386=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001493031]|not provided [RCV003424408] |
Chr6:33438063 [GRCh38]
Chr6:33405840 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.555C>T (p.Ser185=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001476471] |
Chr6:33435197 [GRCh38]
Chr6:33402974 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3638A>G (p.Asn1213Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000879476] |
Chr6:33446630 [GRCh38]
Chr6:33414407 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.708G>T (p.Ala236=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001408151] |
Chr6:33435559 [GRCh38]
Chr6:33403336 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2856C>G (p.Gly952=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001479113] |
Chr6:33443408 [GRCh38]
Chr6:33411185 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3226T>C (p.Leu1076=) |
single nucleotide variant |
Inborn genetic diseases [RCV002319988]|Intellectual disability, autosomal dominant 5 [RCV001479451] |
Chr6:33443778 [GRCh38]
Chr6:33411555 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.4002C>T (p.Asn1334=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000878047]|SYNGAP1-related disorder [RCV004740479]|not provided [RCV002064901] |
Chr6:33451876 [GRCh38]
Chr6:33419653 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.388-3dup |
duplication |
Inborn genetic diseases [RCV004678854]|Intellectual disability, autosomal dominant 5 [RCV002064574]|SYNGAP1-related disorder [RCV004549952]|not provided [RCV000868121] |
Chr6:33432675..33432676 [GRCh38]
Chr6:33400452..33400453 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2733C>T (p.Val911=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000983715] |
Chr6:33443285 [GRCh38]
Chr6:33411062 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1575G>A (p.Glu525=) |
single nucleotide variant |
Inborn genetic diseases [RCV002399893]|Intellectual disability, autosomal dominant 5 [RCV000866170]|not provided [RCV001092253] |
Chr6:33438818 [GRCh38]
Chr6:33406595 [GRCh37]
Chr6:6p21.32 |
benign|likely benign |
| NM_006772.3(SYNGAP1):c.1498C>T (p.Leu500=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001425669] |
Chr6:33438530 [GRCh38]
Chr6:33406307 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3795-1G>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001070985] |
Chr6:33447842 [GRCh38]
Chr6:33415619 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.3059G>T (p.Arg1020Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001062115] |
Chr6:33443611 [GRCh38]
Chr6:33411388 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) |
copy number gain |
not provided [RCV000767714] |
Chr6:29455465..81447367 [GRCh37]
Chr6:6p22.1-q14.1 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1898T>C (p.Leu633Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001064969] |
Chr6:33440950 [GRCh38]
Chr6:33408727 [GRCh37]
Chr6:6p21.32 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006772.3(SYNGAP1):c.700C>T (p.Arg234Trp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001061847] |
Chr6:33435551 [GRCh38]
Chr6:33403328 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2359C>A (p.Pro787Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001069509] |
Chr6:33442911 [GRCh38]
Chr6:33410688 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.2408A>G (p.Lys803Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001035341] |
Chr6:33442960 [GRCh38]
Chr6:33410737 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.373C>T (p.Pro125Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001038433] |
Chr6:33432238 [GRCh38]
Chr6:33400015 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2409A>G (p.Lys803=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001038082] |
Chr6:33442961 [GRCh38]
Chr6:33410738 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.3395C>A (p.Ser1132Tyr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001048406] |
Chr6:33443947 [GRCh38]
Chr6:33411724 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.2860C>T (p.Pro954Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001034068] |
Chr6:33443412 [GRCh38]
Chr6:33411189 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1387-8G>A |
single nucleotide variant |
Inborn genetic diseases [RCV002554636]|Intellectual disability, autosomal dominant 5 [RCV001071926] |
Chr6:33438411 [GRCh38]
Chr6:33406188 [GRCh37]
Chr6:6p21.32 |
likely pathogenic|uncertain significance |
| NM_006772.3(SYNGAP1):c.359_381del (p.Gly120fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV001089537] |
Chr6:33432222..33432244 [GRCh38]
Chr6:33399999..33400021 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3293G>A (p.Ser1098Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003160593]|Intellectual disability, autosomal dominant 5 [RCV001071951] |
Chr6:33443845 [GRCh38]
Chr6:33411622 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.2710A>G (p.Met904Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002552049]|Intellectual disability, autosomal dominant 5 [RCV001034120] |
Chr6:33443262 [GRCh38]
Chr6:33411039 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.113C>T (p.Pro38Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001060257]|not provided [RCV003324814] |
Chr6:33423522 [GRCh38]
Chr6:33391299 [GRCh37]
Chr6:6p21.32 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_006772.3(SYNGAP1):c.2743G>A (p.Gly915Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000807572] |
Chr6:33443295 [GRCh38]
Chr6:33411072 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2162T>G (p.Ile721Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000808988] |
Chr6:33441627 [GRCh38]
Chr6:33409404 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3405G>C (p.Lys1135Asn) |
single nucleotide variant |
not provided [RCV000782026] |
Chr6:33443957 [GRCh38]
Chr6:33411734 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.410del (p.Leu137fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV000816375] |
Chr6:33432707 [GRCh38]
Chr6:33400484 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2089T>C (p.Trp697Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000872696] |
Chr6:33441348 [GRCh38]
Chr6:33409125 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3183C>G (p.Gly1061=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000860551]|not provided [RCV003432786] |
Chr6:33443735 [GRCh38]
Chr6:33411512 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.510-5G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001441184] |
Chr6:33435147 [GRCh38]
Chr6:33402924 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2337-10C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000860697]|not provided [RCV001585800] |
Chr6:33442879 [GRCh38]
Chr6:33410656 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2700G>C (p.Thr900=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001438619] |
Chr6:33443252 [GRCh38]
Chr6:33411029 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2889T>C (p.His963=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001413582] |
Chr6:33443441 [GRCh38]
Chr6:33411218 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1572C>T (p.Cys524=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001475920]|SYNGAP1-related disorder [RCV004549967] |
Chr6:33438815 [GRCh38]
Chr6:33406592 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3794+9C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000867741] |
Chr6:33446795 [GRCh38]
Chr6:33414572 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1251T>C (p.Tyr417=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001447553]|not provided [RCV003326505] |
Chr6:33438156 [GRCh38]
Chr6:33405933 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2085A>C (p.Leu695=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002066477] |
Chr6:33441344 [GRCh38]
Chr6:33409121 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1155G>A (p.Ser385=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001488788] |
Chr6:33438060 [GRCh38]
Chr6:33405837 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3135C>T (p.Ala1045=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002536281] |
Chr6:33443687 [GRCh38]
Chr6:33411464 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.114G>A (p.Pro38=) |
single nucleotide variant |
Inborn genetic diseases [RCV002453987]|Intellectual disability, autosomal dominant 5 [RCV001498763] |
Chr6:33423523 [GRCh38]
Chr6:33391300 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3172G>A (p.Gly1058Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002320032]|Intellectual disability, autosomal dominant 5 [RCV000873462]|not specified [RCV003330983] |
Chr6:33443724 [GRCh38]
Chr6:33411501 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.3168_3179del (p.1053_1056SGGG[1]) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV000862372]|not provided [RCV001532545] |
Chr6:33443709..33443720 [GRCh38]
Chr6:33411486..33411497 [GRCh37]
Chr6:6p21.32 |
benign|likely benign |
| NM_006772.3(SYNGAP1):c.654C>T (p.Phe218=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001424172] |
Chr6:33435296 [GRCh38]
Chr6:33403073 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3564T>C (p.Asp1188=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000866752] |
Chr6:33444599 [GRCh38]
Chr6:33412376 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.844T>C (p.Cys282Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000787271]|not provided [RCV003226976] |
Chr6:33437749 [GRCh38]
Chr6:33405526 [GRCh37]
Chr6:6p21.32 |
pathogenic|likely pathogenic |
| NM_006772.3(SYNGAP1):c.3167_3188dup (p.Pro1065fs) |
duplication |
Intellectual disability, autosomal dominant 5 [RCV000800967] |
Chr6:33443714..33443715 [GRCh38]
Chr6:33411491..33411492 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NC_000006.11:g.(?_33131435)_(33419703_?)dup |
duplication |
Intellectual disability, autosomal dominant 5 [RCV000817954] |
Chr6:33163658..33451926 [GRCh38]
Chr6:33131435..33419703 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2391_2392dup (p.Pro798fs) |
duplication |
Intellectual disability, autosomal dominant 5 [RCV000799582] |
Chr6:33442941..33442942 [GRCh38]
Chr6:33410718..33410719 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.980T>C (p.Leu327Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000817612] |
Chr6:33437885 [GRCh38]
Chr6:33405662 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.781_784del (p.Asp261fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV000806993] |
Chr6:33437685..33437688 [GRCh38]
Chr6:33405462..33405465 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1544G>A (p.Arg515His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000791099] |
Chr6:33438787 [GRCh38]
Chr6:33406564 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3846G>C (p.Glu1282Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000799760] |
Chr6:33447894 [GRCh38]
Chr6:33415671 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2443C>T (p.Arg815Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000817850] |
Chr6:33442995 [GRCh38]
Chr6:33410772 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2768T>A (p.Ile923Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000801450] |
Chr6:33443320 [GRCh38]
Chr6:33411097 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1269T>A (p.Tyr423Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000984979] |
Chr6:33438174 [GRCh38]
Chr6:33405951 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.1199T>A (p.Val400Glu) |
single nucleotide variant |
not provided [RCV000998586] |
Chr6:33438104 [GRCh38]
Chr6:33405881 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1305G>A (p.Leu435=) |
single nucleotide variant |
Inborn genetic diseases [RCV002381981]|Intellectual disability, autosomal dominant 5 [RCV000871472] |
Chr6:33438210 [GRCh38]
Chr6:33405987 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2755C>T (p.Gln919Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000812055]|not provided [RCV001092258] |
Chr6:33443307 [GRCh38]
Chr6:33411084 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1292T>C (p.Leu431Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000818376] |
Chr6:33438197 [GRCh38]
Chr6:33405974 [GRCh37]
Chr6:6p21.32 |
likely pathogenic|uncertain significance |
| NM_006772.3(SYNGAP1):c.1618C>T (p.Gln540Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000987679] |
Chr6:33438861 [GRCh38]
Chr6:33406638 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3179del (p.Gly1060fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV000987681]|SYNGAP1-related developmental and epileptic encephalopathy [RCV002274111] |
Chr6:33443727 [GRCh38]
Chr6:33411504 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3386T>C (p.Leu1129Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000987682] |
Chr6:33443938 [GRCh38]
Chr6:33411715 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3355G>A (p.Gly1119Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000803837] |
Chr6:33443907 [GRCh38]
Chr6:33411684 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.1403T>A (p.Met468Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000796202] |
Chr6:33438435 [GRCh38]
Chr6:33406212 [GRCh37]
Chr6:6p21.32 |
likely pathogenic|uncertain significance |
| NM_006772.3(SYNGAP1):c.280C>T (p.Pro94Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000805945] |
Chr6:33425888 [GRCh38]
Chr6:33393665 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1823_1824del (p.Phe608fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV000797147] |
Chr6:33440874..33440875 [GRCh38]
Chr6:33408651..33408652 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3979C>T (p.Pro1327Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000815539] |
Chr6:33451853 [GRCh38]
Chr6:33419630 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1721del (p.Leu574fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV000816226] |
Chr6:33440773 [GRCh38]
Chr6:33408550 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.901G>A (p.Ala301Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004669187]|Intellectual disability, autosomal dominant 5 [RCV001858883]|not provided [RCV000998585] |
Chr6:33437806 [GRCh38]
Chr6:33405583 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3364G>A (p.Gly1122Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000796835]|not provided [RCV001562892] |
Chr6:33443916 [GRCh38]
Chr6:33411693 [GRCh37]
Chr6:6p21.32 |
benign|likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.388-3C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000851521]|Neurodevelopmental disorder [RCV001374895] |
Chr6:33432682 [GRCh38]
Chr6:33400459 [GRCh37]
Chr6:6p21.32 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_006772.3(SYNGAP1):c.505G>A (p.Asp169Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000809259] |
Chr6:33432802 [GRCh38]
Chr6:33400579 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3599dup (p.Glu1201fs) |
duplication |
Intellectual disability, autosomal dominant 5 [RCV000987683] |
Chr6:33446590..33446591 [GRCh38]
Chr6:33414367..33414368 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2405G>A (p.Gly802Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000793672] |
Chr6:33442957 [GRCh38]
Chr6:33410734 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2565C>T (p.Leu855=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000863283] |
Chr6:33443117 [GRCh38]
Chr6:33410894 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3942G>A (p.Pro1314=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000871072] |
Chr6:33451816 [GRCh38]
Chr6:33419593 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3377del (p.Gly1126fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV000824112] |
Chr6:33443925 [GRCh38]
Chr6:33411702 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1094del (p.Val365fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV000796727] |
Chr6:33437999 [GRCh38]
Chr6:33405776 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2071A>C (p.Thr691Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000802785] |
Chr6:33441330 [GRCh38]
Chr6:33409107 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.2352T>C (p.Ala784=) |
single nucleotide variant |
Inborn genetic diseases [RCV002444984]|Intellectual disability, autosomal dominant 5 [RCV002065596] |
Chr6:33442904 [GRCh38]
Chr6:33410681 [GRCh37]
Chr6:6p21.32 |
benign|likely benign |
| NM_006772.3(SYNGAP1):c.937G>T (p.Glu313Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000803610]|not provided [RCV004768664] |
Chr6:33437842 [GRCh38]
Chr6:33405619 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.939G>A (p.Glu313=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000875216] |
Chr6:33437844 [GRCh38]
Chr6:33405621 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2703G>A (p.Ala901=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000804276]|not provided [RCV003432770] |
Chr6:33443255 [GRCh38]
Chr6:33411032 [GRCh37]
Chr6:6p21.32 |
benign|likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.2591C>T (p.Ala864Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000811894] |
Chr6:33443143 [GRCh38]
Chr6:33410920 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3941C>T (p.Pro1314Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000801028] |
Chr6:33451815 [GRCh38]
Chr6:33419592 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.1920C>T (p.Thr640=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000864024] |
Chr6:33441179 [GRCh38]
Chr6:33408956 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.667A>G (p.Thr223Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000814514] |
Chr6:33435518 [GRCh38]
Chr6:33403295 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2246G>A (p.Arg749Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001406070] |
Chr6:33441711 [GRCh38]
Chr6:33409488 [GRCh37]
Chr6:6p21.32 |
likely benign |
| GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3 |
copy number gain |
not provided [RCV001005791] |
Chr6:31036397..34088832 [GRCh37]
Chr6:6p21.33-21.31 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.1243G>T (p.Glu415Ter) |
single nucleotide variant |
not provided [RCV001092252] |
Chr6:33438148 [GRCh38]
Chr6:33405925 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NC_000006.12:g.(?_33391986)_(33672228_?)dup |
duplication |
Intellectual disability, autosomal dominant 5 [RCV001032764] |
Chr6:33359763..33640005 [GRCh37]
Chr6:6p21.32-21.31 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.33G>T (p.Gly11=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001452211]|not provided [RCV000998584] |
Chr6:33420297 [GRCh38]
Chr6:33388074 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.2487G>A (p.Glu829=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000936259] |
Chr6:33443039 [GRCh38]
Chr6:33410816 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1461C>T (p.Asn487=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001493028] |
Chr6:33438493 [GRCh38]
Chr6:33406270 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2381C>T (p.Pro794Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004030578]|Intellectual disability, autosomal dominant 5 [RCV001065274] |
Chr6:33442933 [GRCh38]
Chr6:33410710 [GRCh37]
Chr6:6p21.32 |
benign|likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.2047A>G (p.Ile683Val) |
single nucleotide variant |
Marfanoid habitus and intellectual disability [RCV000850459] |
Chr6:33441306 [GRCh38]
Chr6:33409083 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1296dup (p.Ala433fs) |
duplication |
SYNGAP1-related disorder [RCV003987760]|not provided [RCV001008984] |
Chr6:33438200..33438201 [GRCh38]
Chr6:33405977..33405978 [GRCh37]
Chr6:6p21.32 |
pathogenic|not provided |
| NM_006772.3(SYNGAP1):c.2443C>G (p.Arg815Gly) |
single nucleotide variant |
not provided [RCV001171859] |
Chr6:33442995 [GRCh38]
Chr6:33410772 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.953C>T (p.Pro318Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001229401]|not provided [RCV003129746] |
Chr6:33437858 [GRCh38]
Chr6:33405635 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.68-277C>G |
single nucleotide variant |
not provided [RCV001544658] |
Chr6:33423200 [GRCh38]
Chr6:33390977 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NC_000006.12:g.(?_33420245)_(33451926_?)del |
deletion |
Intellectual disability, autosomal dominant 5 [RCV001032048] |
Chr6:33388022..33419703 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3322_3323del (p.Ser1108fs) |
microsatellite |
Intellectual disability, autosomal dominant 5 [RCV003130099]|not provided [RCV001008349] |
Chr6:33443872..33443873 [GRCh38]
Chr6:33411649..33411650 [GRCh37]
Chr6:6p21.32 |
pathogenic|likely pathogenic |
| NM_006772.3(SYNGAP1):c.3151G>T (p.Gly1051Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001203203] |
Chr6:33443703 [GRCh38]
Chr6:33411480 [GRCh37]
Chr6:6p21.32 |
likely pathogenic|uncertain significance |
| NM_006772.3(SYNGAP1):c.2493G>C (p.Glu831Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001209419] |
Chr6:33443045 [GRCh38]
Chr6:33410822 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1802C>T (p.Ala601Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001243269] |
Chr6:33440854 [GRCh38]
Chr6:33408631 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1160G>T (p.Gly387Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001209231] |
Chr6:33438065 [GRCh38]
Chr6:33405842 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.773G>A (p.Arg258His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001221214]|not provided [RCV001815516] |
Chr6:33437678 [GRCh38]
Chr6:33405455 [GRCh37]
Chr6:6p21.32 |
benign|likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.3553A>T (p.Lys1185Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001223893] |
Chr6:33444588 [GRCh38]
Chr6:33412365 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1767C>G (p.Ile589Met) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001238491] |
Chr6:33440819 [GRCh38]
Chr6:33408596 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3197C>T (p.Pro1066Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001223458] |
Chr6:33443749 [GRCh38]
Chr6:33411526 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2266C>T (p.Gln756Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001203980] |
Chr6:33441731 [GRCh38]
Chr6:33409508 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3348GGGCAGCGG[1] (p.1118SGG[1]) |
microsatellite |
Intellectual disability, autosomal dominant 5 [RCV001222206]|not provided [RCV001549778] |
Chr6:33443898..33443906 [GRCh38]
Chr6:33411675..33411683 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.1423C>T (p.Arg475Trp) |
single nucleotide variant |
not provided [RCV001200293] |
Chr6:33438455 [GRCh38]
Chr6:33406232 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2111G>A (p.Ser704Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001236133]|See cases [RCV002252339] |
Chr6:33441370 [GRCh38]
Chr6:33409147 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.3731G>A (p.Ser1244Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001197280] |
Chr6:33446723 [GRCh38]
Chr6:33414500 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.88C>T (p.His30Tyr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001248238] |
Chr6:33423497 [GRCh38]
Chr6:33391274 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1108G>A (p.Gly370Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001233889] |
Chr6:33438013 [GRCh38]
Chr6:33405790 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.218G>A (p.Arg73Lys) |
single nucleotide variant |
not provided [RCV004786130] |
Chr6:33425826 [GRCh38]
Chr6:33393603 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.387+8G>A |
single nucleotide variant |
not specified [RCV003317890] |
Chr6:33432260 [GRCh38]
Chr6:33400037 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2387del (p.Pro796fs) |
deletion |
Inborn genetic diseases [RCV001266876]|Intellectual disability, autosomal dominant 5 [RCV000987680] |
Chr6:33442935 [GRCh38]
Chr6:33410712 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.269T>A (p.Val90Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001247496] |
Chr6:33425877 [GRCh38]
Chr6:33393654 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1253_1254del (p.Lys418fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV001199157] |
Chr6:33438157..33438158 [GRCh38]
Chr6:33405934..33405935 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3406C>T (p.Gln1136Ter) |
single nucleotide variant |
Complex neurodevelopmental disorder [RCV001265524]|Intellectual disability, autosomal dominant 5 [RCV001249694] |
Chr6:33443958 [GRCh38]
Chr6:33411735 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.2924C>A (p.Thr975Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001212186] |
Chr6:33443476 [GRCh38]
Chr6:33411253 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.662A>T (p.Glu221Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003110187] |
Chr6:33435304 [GRCh38]
Chr6:33403081 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.1991T>C (p.Leu664Ser) |
single nucleotide variant |
Seizure [RCV003127226] |
Chr6:33441250 [GRCh38]
Chr6:33409027 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1157G>A (p.Gly386Glu) |
single nucleotide variant |
not provided [RCV004776871] |
Chr6:33438062 [GRCh38]
Chr6:33405839 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1651C>A (p.Leu551Met) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003104905] |
Chr6:33438894 [GRCh38]
Chr6:33406671 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3977C>G (p.Pro1326Arg) |
single nucleotide variant |
not provided [RCV003126412] |
Chr6:33451851 [GRCh38]
Chr6:33419628 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1787G>T (p.Arg596Leu) |
single nucleotide variant |
not provided [RCV003127131] |
Chr6:33440839 [GRCh38]
Chr6:33408616 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.387+67G>A |
single nucleotide variant |
not provided [RCV001544876] |
Chr6:33432319 [GRCh38]
Chr6:33400096 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2282G>C (p.Arg761Pro) |
single nucleotide variant |
not provided [RCV001545266] |
Chr6:33441747 [GRCh38]
Chr6:33409524 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.510-55_510-53dup |
duplication |
not provided [RCV001569392] |
Chr6:33435075..33435076 [GRCh38]
Chr6:33402852..33402853 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.835C>T (p.Arg279Trp) |
single nucleotide variant |
not provided [RCV001570465] |
Chr6:33437740 [GRCh38]
Chr6:33405517 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.510-199dup |
duplication |
not provided [RCV001567809] |
Chr6:33434941..33434942 [GRCh38]
Chr6:33402718..33402719 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1914-32_1914-29del |
deletion |
not provided [RCV001567534] |
Chr6:33441138..33441141 [GRCh38]
Chr6:33408915..33408918 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1531+52C>T |
single nucleotide variant |
not provided [RCV001683922] |
Chr6:33438615 [GRCh38]
Chr6:33406392 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.1914-59TG[11] |
microsatellite |
not provided [RCV001540535] |
Chr6:33441114..33441117 [GRCh38]
Chr6:33408891..33408894 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.510-206_510-199dup |
duplication |
not provided [RCV001554907] |
Chr6:33434941..33434942 [GRCh38]
Chr6:33402718..33402719 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.28C>T (p.Arg10Trp) |
single nucleotide variant |
not provided [RCV001658738] |
Chr6:33420292 [GRCh38]
Chr6:33388069 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.295+87G>T |
single nucleotide variant |
not provided [RCV001560698] |
Chr6:33425990 [GRCh38]
Chr6:33393767 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1914-48G>A |
single nucleotide variant |
not provided [RCV001636012] |
Chr6:33441125 [GRCh38]
Chr6:33408902 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.388-27C>A |
single nucleotide variant |
not provided [RCV001685167] |
Chr6:33432658 [GRCh38]
Chr6:33400435 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.1914-59TG[15] |
microsatellite |
not provided [RCV001550921] |
Chr6:33441113..33441114 [GRCh38]
Chr6:33408890..33408891 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1914-59TG[14] |
microsatellite |
not provided [RCV001654397] |
Chr6:33441113..33441114 [GRCh38]
Chr6:33408890..33408891 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.388-18T>C |
single nucleotide variant |
not provided [RCV001639751] |
Chr6:33432667 [GRCh38]
Chr6:33400444 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.189+29G>A |
single nucleotide variant |
not provided [RCV001676493] |
Chr6:33423627 [GRCh38]
Chr6:33391404 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.3175G>A (p.Gly1059Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001992866] |
Chr6:33443727 [GRCh38]
Chr6:33411504 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NC_000006.12:g.33419822G>C |
single nucleotide variant |
not provided [RCV001570239] |
Chr6:33419822 [GRCh38]
Chr6:33387599 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3022G>A (p.Asp1008Asn) |
single nucleotide variant |
not provided [RCV001589685] |
Chr6:33443574 [GRCh38]
Chr6:33411351 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.68-76C>T |
single nucleotide variant |
not provided [RCV001609218] |
Chr6:33423401 [GRCh38]
Chr6:33391178 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.2116-30A>C |
single nucleotide variant |
not provided [RCV001594675] |
Chr6:33441551 [GRCh38]
Chr6:33409328 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.2336+27T>C |
single nucleotide variant |
not provided [RCV001650114] |
Chr6:33442521 [GRCh38]
Chr6:33410298 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.3487C>G (p.His1163Asp) |
single nucleotide variant |
not provided [RCV001760817] |
Chr6:33444522 [GRCh38]
Chr6:33412299 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2301C>T (p.Ile767=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000918056]|not provided [RCV004584826] |
Chr6:33442459 [GRCh38]
Chr6:33410236 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2157C>T (p.Asn719=) |
single nucleotide variant |
Inborn genetic diseases [RCV002427277]|Intellectual disability, autosomal dominant 5 [RCV000918119]|not provided [RCV001638018] |
Chr6:33441622 [GRCh38]
Chr6:33409399 [GRCh37]
Chr6:6p21.32 |
benign|likely benign |
| NM_006772.3(SYNGAP1):c.3930G>A (p.Thr1310=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000896687]|SYNGAP1-related disorder [RCV004551688] |
Chr6:33451804 [GRCh38]
Chr6:33419581 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2418C>T (p.Phe806=) |
single nucleotide variant |
not provided [RCV000929750] |
Chr6:33442970 [GRCh38]
Chr6:33410747 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3963A>C (p.Pro1321=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000866626]|not provided [RCV001644847] |
Chr6:33451837 [GRCh38]
Chr6:33419614 [GRCh37]
Chr6:6p21.32 |
benign|likely benign |
| NM_006772.3(SYNGAP1):c.1878T>C (p.Ile626=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000861316] |
Chr6:33440930 [GRCh38]
Chr6:33408707 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.915C>T (p.Thr305=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV000931313] |
Chr6:33437820 [GRCh38]
Chr6:33405597 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1488G>A (p.Glu496=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001431503] |
Chr6:33438520 [GRCh38]
Chr6:33406297 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3995C>T (p.Thr1332Met) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001451695] |
Chr6:33451869 [GRCh38]
Chr6:33419646 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2215G>T (p.Glu739Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001034746] |
Chr6:33441680 [GRCh38]
Chr6:33409457 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1744del (p.Glu582fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV001207862] |
Chr6:33440794 [GRCh38]
Chr6:33408571 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3308G>T (p.Arg1103Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001242945] |
Chr6:33443860 [GRCh38]
Chr6:33411637 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3606del (p.His1203fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV001219537] |
Chr6:33446597 [GRCh38]
Chr6:33414374 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2362_2366dup (p.Thr790fs) |
microsatellite |
Intellectual disability, autosomal dominant 5 [RCV001873452]|not provided [RCV001092257] |
Chr6:33442906..33442907 [GRCh38]
Chr6:33410683..33410684 [GRCh37]
Chr6:6p21.32 |
pathogenic|likely pathogenic |
| NM_006772.3(SYNGAP1):c.190-2A>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001223942] |
Chr6:33425796 [GRCh38]
Chr6:33393573 [GRCh37]
Chr6:6p21.32 |
pathogenic|likely pathogenic |
| NM_006772.3(SYNGAP1):c.387+1G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001095641] |
Chr6:33432253 [GRCh38]
Chr6:33400030 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.194A>G (p.His65Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001045243] |
Chr6:33425802 [GRCh38]
Chr6:33393579 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2337-7C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001196511] |
Chr6:33442882 [GRCh38]
Chr6:33410659 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1286G>A (p.Arg429Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001070170] |
Chr6:33438191 [GRCh38]
Chr6:33405968 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3G>A (p.Met1Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002354971]|Intellectual disability, autosomal dominant 5 [RCV001034116]|not provided [RCV001572119] |
Chr6:33420267 [GRCh38]
Chr6:33388044 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.2608C>G (p.Leu870Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001217911] |
Chr6:33443160 [GRCh38]
Chr6:33410937 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2962C>T (p.Leu988Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001244064] |
Chr6:33443514 [GRCh38]
Chr6:33411291 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3607C>G (p.His1203Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001225487] |
Chr6:33446599 [GRCh38]
Chr6:33414376 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1842C>T (p.Tyr614=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001434126] |
Chr6:33440894 [GRCh38]
Chr6:33408671 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.296-4C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001487581] |
Chr6:33432157 [GRCh38]
Chr6:33399934 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.233G>T (p.Arg78Leu) |
single nucleotide variant |
not provided [RCV004812711] |
Chr6:33425841 [GRCh38]
Chr6:33393618 [GRCh37] |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1914-32A>G |
single nucleotide variant |
not provided [RCV001636579] |
Chr6:33441141 [GRCh38]
Chr6:33408918 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.1532-28C>A |
single nucleotide variant |
not provided [RCV001550975] |
Chr6:33438747 [GRCh38]
Chr6:33406524 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.67+186G>A |
single nucleotide variant |
not provided [RCV001556527] |
Chr6:33420517 [GRCh38]
Chr6:33388294 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2837G>A (p.Gly946Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002032705]|not provided [RCV001730206] |
Chr6:33443389 [GRCh38]
Chr6:33411166 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.3358_3359del (p.Gly1120fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV003234751] |
Chr6:33443907..33443908 [GRCh38]
Chr6:33411684..33411685 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3961C>T (p.Pro1321Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002470311] |
Chr6:33451835 [GRCh38]
Chr6:33419612 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1673A>G (p.His558Arg) |
single nucleotide variant |
not provided [RCV003236018] |
Chr6:33438916 [GRCh38]
Chr6:33406693 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1913+36T>C |
single nucleotide variant |
not provided [RCV001557965] |
Chr6:33441001 [GRCh38]
Chr6:33408778 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3056G>A (p.Arg1019His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002568373]|not provided [RCV001558070] |
Chr6:33443608 [GRCh38]
Chr6:33411385 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.388-30dup |
duplication |
not provided [RCV001558504] |
Chr6:33432651..33432652 [GRCh38]
Chr6:33400428..33400429 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.510-50A>G |
single nucleotide variant |
not provided [RCV001719246] |
Chr6:33435102 [GRCh38]
Chr6:33402879 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.387+32G>A |
single nucleotide variant |
not provided [RCV001552149] |
Chr6:33432284 [GRCh38]
Chr6:33400061 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1540A>T (p.Ile514Phe) |
single nucleotide variant |
not provided [RCV003234468] |
Chr6:33438783 [GRCh38]
Chr6:33406560 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2295-25C>T |
single nucleotide variant |
not provided [RCV001688942] |
Chr6:33442428 [GRCh38]
Chr6:33410205 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.2388A>G (p.Pro796=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002072062]|not provided [RCV001553302] |
Chr6:33442940 [GRCh38]
Chr6:33410717 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.844T>A (p.Cys282Ser) |
single nucleotide variant |
not provided [RCV002469630] |
Chr6:33437749 [GRCh38]
Chr6:33405526 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2116-92A>G |
single nucleotide variant |
not provided [RCV001555156] |
Chr6:33441489 [GRCh38]
Chr6:33409266 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.190-148A>G |
single nucleotide variant |
not provided [RCV001561008] |
Chr6:33425650 [GRCh38]
Chr6:33393427 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.664-41C>T |
single nucleotide variant |
not provided [RCV001596673] |
Chr6:33435474 [GRCh38]
Chr6:33403251 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.388-1G>C |
single nucleotide variant |
not provided [RCV002467084] |
Chr6:33432684 [GRCh38]
Chr6:33400461 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2444G>T (p.Arg815Leu) |
single nucleotide variant |
not provided [RCV003235898] |
Chr6:33442996 [GRCh38]
Chr6:33410773 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3983G>A (p.Arg1328Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002471777]|SYNGAP1-related disorder [RCV004548303] |
Chr6:33451857 [GRCh38]
Chr6:33419634 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1322T>C (p.Val441Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002571410]|not provided [RCV002467115] |
Chr6:33438227 [GRCh38]
Chr6:33406004 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.85_86del (p.Met29fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV002470293] |
Chr6:33423493..33423494 [GRCh38]
Chr6:33391270..33391271 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2295-91T>C |
single nucleotide variant |
not provided [RCV001621326] |
Chr6:33442362 [GRCh38]
Chr6:33410139 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.1914-60_1914-51del |
microsatellite |
not provided [RCV001638761] |
Chr6:33441094..33441103 [GRCh38]
Chr6:33408871..33408880 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.510-205_510-199dup |
duplication |
not provided [RCV001659671] |
Chr6:33434941..33434942 [GRCh38]
Chr6:33402718..33402719 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.388-173C>A |
single nucleotide variant |
not provided [RCV001719379] |
Chr6:33432512 [GRCh38]
Chr6:33400289 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.2295-168C>T |
single nucleotide variant |
not provided [RCV001687651] |
Chr6:33442285 [GRCh38]
Chr6:33410062 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.296-160C>T |
single nucleotide variant |
not provided [RCV001723000]|not specified [RCV004594574] |
Chr6:33432001 [GRCh38]
Chr6:33399778 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.510-53dup |
duplication |
not provided [RCV001597774] |
Chr6:33435075..33435076 [GRCh38]
Chr6:33402852..33402853 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.2197C>T (p.Gln733Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV004594368]|not provided [RCV001580920] |
Chr6:33441662 [GRCh38]
Chr6:33409439 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.763-265G>A |
single nucleotide variant |
not provided [RCV001655204] |
Chr6:33437403 [GRCh38]
Chr6:33405180 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.510-54_510-53dup |
duplication |
not provided [RCV001719220] |
Chr6:33435075..33435076 [GRCh38]
Chr6:33402852..33402853 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.3583-17G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002073071]|not provided [RCV001653308] |
Chr6:33446558 [GRCh38]
Chr6:33414335 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.2336+23G>C |
single nucleotide variant |
not provided [RCV001621627] |
Chr6:33442517 [GRCh38]
Chr6:33410294 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.1677-129_1677-128del |
deletion |
not provided [RCV001575432] |
Chr6:33440600..33440601 [GRCh38]
Chr6:33408377..33408378 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3409-24C>T |
single nucleotide variant |
not provided [RCV001598956] |
Chr6:33444420 [GRCh38]
Chr6:33412197 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.190-50G>A |
single nucleotide variant |
not provided [RCV001649849] |
Chr6:33425748 [GRCh38]
Chr6:33393525 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.1406_1426del (p.Ala469_Phe476delinsVal) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV001070887] |
Chr6:33438438..33438458 [GRCh38]
Chr6:33406215..33406235 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3508_3509del (p.Ser1170fs) |
microsatellite |
Microcephaly [RCV001003591]|not provided [RCV004789311] |
Chr6:33444540..33444541 [GRCh38]
Chr6:33412317..33412318 [GRCh37]
Chr6:6p21.32 |
pathogenic|likely pathogenic |
| NM_006772.3(SYNGAP1):c.2225G>A (p.Arg742Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003507369]|not specified [RCV001192381] |
Chr6:33441690 [GRCh38]
Chr6:33409467 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2115G>C (p.Lys705Asn) |
single nucleotide variant |
not provided [RCV001092255] |
Chr6:33441374 [GRCh38]
Chr6:33409151 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.663+1G>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001069599] |
Chr6:33435306 [GRCh38]
Chr6:33403083 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NC_000006.12:g.(?_33435132)_(33438311_?)del |
deletion |
Intellectual disability, autosomal dominant 5 [RCV001033464] |
Chr6:33402909..33406088 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.510-49del |
deletion |
not provided [RCV001709340] |
Chr6:33435102 [GRCh38]
Chr6:33402879 [GRCh37]
Chr6:6p21.32 |
benign |
| NC_000006.12:g.33419836C>A |
single nucleotide variant |
not provided [RCV001584584] |
Chr6:33419836 [GRCh38]
Chr6:33387613 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2881C>T (p.His961Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002436678]|Intellectual disability, autosomal dominant 5 [RCV001069393] |
Chr6:33443433 [GRCh38]
Chr6:33411210 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.718_719del (p.Asp240fs) |
microsatellite |
not provided [RCV001171625] |
Chr6:33435566..33435567 [GRCh38]
Chr6:33403343..33403344 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1531+1del |
deletion |
not provided [RCV001543438] |
Chr6:33438563 [GRCh38]
Chr6:33406340 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.3583-45G>C |
single nucleotide variant |
not provided [RCV001684637] |
Chr6:33446530 [GRCh38]
Chr6:33414307 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.970C>T (p.Arg324Trp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001048201] |
Chr6:33437875 [GRCh38]
Chr6:33405652 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2830G>A (p.Gly944Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001033999] |
Chr6:33443382 [GRCh38]
Chr6:33411159 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.1625A>G (p.Asn542Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001034019] |
Chr6:33438868 [GRCh38]
Chr6:33406645 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1025A>G (p.Tyr342Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003507380]|not provided [RCV001589666] |
Chr6:33437930 [GRCh38]
Chr6:33405707 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.3962C>A (p.Pro1321Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001034164] |
Chr6:33451836 [GRCh38]
Chr6:33419613 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.3194C>T (p.Pro1065Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001034213] |
Chr6:33443746 [GRCh38]
Chr6:33411523 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2444G>A (p.Arg815His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001034271]|SYNGAP1-related disorder [RCV004740544] |
Chr6:33442996 [GRCh38]
Chr6:33410773 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.3408+180A>T |
single nucleotide variant |
not provided [RCV001690805] |
Chr6:33444140 [GRCh38]
Chr6:33411917 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.762+46C>T |
single nucleotide variant |
not provided [RCV001589812] |
Chr6:33435659 [GRCh38]
Chr6:33403436 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.763-122C>T |
single nucleotide variant |
not provided [RCV001586299] |
Chr6:33437546 [GRCh38]
Chr6:33405323 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3582+4C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001034299] |
Chr6:33444621 [GRCh38]
Chr6:33412398 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.1677-40TC[7] |
microsatellite |
not provided [RCV001539945] |
Chr6:33440689..33440690 [GRCh38]
Chr6:33408466..33408467 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3567G>C (p.Glu1189Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001034519] |
Chr6:33444602 [GRCh38]
Chr6:33412379 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1771G>A (p.Ala591Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002405261]|Intellectual disability, autosomal dominant 5 [RCV002070430]|not provided [RCV001583954] |
Chr6:33440823 [GRCh38]
Chr6:33408600 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NC_000006.12:g.(?_33173681)_(33451926_?)dup |
duplication |
Intellectual disability, autosomal dominant 5 [RCV001032258] |
Chr6:33141458..33419703 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1884G>A (p.Lys628=) |
single nucleotide variant |
Inborn genetic diseases [RCV002411793]|Intellectual disability, autosomal dominant 5 [RCV001215513]|not provided [RCV001673038] |
Chr6:33440936 [GRCh38]
Chr6:33408713 [GRCh37]
Chr6:6p21.32 |
benign|likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.502C>T (p.His168Tyr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001229804] |
Chr6:33432799 [GRCh38]
Chr6:33400576 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.1406C>A (p.Ala469Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001214477] |
Chr6:33438438 [GRCh38]
Chr6:33406215 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3502A>G (p.Ile1168Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001204711] |
Chr6:33444537 [GRCh38]
Chr6:33412314 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.745del (p.Ala249fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV001230329] |
Chr6:33435594 [GRCh38]
Chr6:33403371 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1144G>T (p.Gly382Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001390342]|not provided [RCV001092251] |
Chr6:33438049 [GRCh38]
Chr6:33405826 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2323C>T (p.Arg775Ter) |
single nucleotide variant |
Seizure [RCV004546599]|not provided [RCV001092256] |
Chr6:33442481 [GRCh38]
Chr6:33410258 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2075T>C (p.Leu692Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001050554] |
Chr6:33441334 [GRCh38]
Chr6:33409111 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.4003G>A (p.Gly1335Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001057216] |
Chr6:33451877 [GRCh38]
Chr6:33419654 [GRCh37]
Chr6:6p21.32 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006772.3(SYNGAP1):c.3632T>A (p.Met1211Lys) |
single nucleotide variant |
Seizure [RCV001034609] |
Chr6:33446624 [GRCh38]
Chr6:33414401 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3587dup (p.Glu1197fs) |
duplication |
Intellectual disability, autosomal dominant 5 [RCV001202586] |
Chr6:33446577..33446578 [GRCh38]
Chr6:33414354..33414355 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.4021G>A (p.Ala1341Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001039232] |
Chr6:33451895 [GRCh38]
Chr6:33419672 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3860C>T (p.Pro1287Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003770228]|not provided [RCV001200295] |
Chr6:33447908 [GRCh38]
Chr6:33415685 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.2764C>T (p.Arg922Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001234123]|not provided [RCV001579857] |
Chr6:33443316 [GRCh38]
Chr6:33411093 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1127del (p.Gly376fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV001202268] |
Chr6:33438028 [GRCh38]
Chr6:33405805 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2230C>T (p.Gln744Ter) |
single nucleotide variant |
not provided [RCV001171858] |
Chr6:33441695 [GRCh38]
Chr6:33409472 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2414T>C (p.Leu805Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001218049] |
Chr6:33442966 [GRCh38]
Chr6:33410743 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1150G>A (p.Gly384Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001215288] |
Chr6:33438055 [GRCh38]
Chr6:33405832 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2459A>G (p.Tyr820Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001232831] |
Chr6:33443011 [GRCh38]
Chr6:33410788 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1532-1G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001248110] |
Chr6:33438774 [GRCh38]
Chr6:33406551 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.1214G>A (p.Arg405His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001070407]|not provided [RCV003886479] |
Chr6:33438119 [GRCh38]
Chr6:33405896 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.2350G>A (p.Ala784Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001236562] |
Chr6:33442902 [GRCh38]
Chr6:33410679 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.1117G>T (p.Gly373Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001175141] |
Chr6:33438022 [GRCh38]
Chr6:33405799 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2275A>C (p.Met759Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001212421] |
Chr6:33441740 [GRCh38]
Chr6:33409517 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3557C>T (p.Ser1186Leu) |
single nucleotide variant |
not specified [RCV001195520] |
Chr6:33444592 [GRCh38]
Chr6:33412369 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2454_2456delinsG (p.Ala819fs) |
indel |
not provided [RCV001009026] |
Chr6:33443006..33443008 [GRCh38]
Chr6:33410783..33410785 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2592G>A (p.Ala864=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001041275] |
Chr6:33443144 [GRCh38]
Chr6:33410921 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.1667A>G (p.Asn556Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001210814] |
Chr6:33438910 [GRCh38]
Chr6:33406687 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.896G>A (p.Arg299His) |
single nucleotide variant |
Inborn genetic diseases [RCV002445294]|Intellectual disability, autosomal dominant 5 [RCV001055960] |
Chr6:33437801 [GRCh38]
Chr6:33405578 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.3732_3735del (p.Ser1244fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV001204347] |
Chr6:33446721..33446724 [GRCh38]
Chr6:33414498..33414501 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2702C>T (p.Ala901Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001202867]|not provided [RCV004726949] |
Chr6:33443254 [GRCh38]
Chr6:33411031 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3038C>G (p.Ser1013Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001202986] |
Chr6:33443590 [GRCh38]
Chr6:33411367 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1139del (p.Gly380fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV001229415] |
Chr6:33438042 [GRCh38]
Chr6:33405819 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1428C>G (p.Phe476Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001232513]|not provided [RCV002245891] |
Chr6:33438460 [GRCh38]
Chr6:33406237 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2874CCA[2] (p.His964_His966del) |
microsatellite |
Intellectual disability, autosomal dominant 5 [RCV001034105] |
Chr6:33443424..33443432 [GRCh38]
Chr6:33411201..33411209 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3932T>C (p.Leu1311Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001034376] |
Chr6:33451806 [GRCh38]
Chr6:33419583 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2621_2625dup (p.Ser876fs) |
duplication |
Intellectual disability, autosomal dominant 5 [RCV001250746] |
Chr6:33443169..33443170 [GRCh38]
Chr6:33410946..33410947 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.1249_1252dup (p.Lys418delinsIleTer) |
microsatellite |
Intellectual disability, autosomal dominant 5 [RCV001253508] |
Chr6:33438151..33438152 [GRCh38]
Chr6:33405928..33405929 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.930G>C (p.Glu310Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001252123] |
Chr6:33437835 [GRCh38]
Chr6:33405612 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.2250dup (p.Pro751fs) |
duplication |
Intellectual disability [RCV001255374]|Intellectual disability, autosomal dominant 5 [RCV001253736] |
Chr6:33441710..33441711 [GRCh38]
Chr6:33409487..33409488 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.670A>G (p.Thr224Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001253502] |
Chr6:33435521 [GRCh38]
Chr6:33403298 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.458C>A (p.Thr153Asn) |
single nucleotide variant |
Complex neurodevelopmental disorder [RCV001265526]|Inborn genetic diseases [RCV001266173]|Intellectual disability, autosomal dominant 5 [RCV001810009] |
Chr6:33432755 [GRCh38]
Chr6:33400532 [GRCh37]
Chr6:6p21.32 |
likely pathogenic|uncertain significance |
| NM_006772.3(SYNGAP1):c.3408+1G>T |
single nucleotide variant |
Complex neurodevelopmental disorder [RCV001265156] |
Chr6:33443961 [GRCh38]
Chr6:33411738 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1676+5G>T |
single nucleotide variant |
Complex neurodevelopmental disorder [RCV001265157] |
Chr6:33438924 [GRCh38]
Chr6:33406701 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.3665_3669dup (p.Leu1224fs) |
duplication |
Inborn genetic diseases [RCV001267556] |
Chr6:33446656..33446657 [GRCh38]
Chr6:33414433..33414434 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2293del (p.Ser765fs) |
deletion |
Inborn genetic diseases [RCV001267628] |
Chr6:33441758 [GRCh38]
Chr6:33409535 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.924G>C (p.Trp308Cys) |
single nucleotide variant |
Intellectual disability [RCV001260777]|not provided [RCV003153963] |
Chr6:33437829 [GRCh38]
Chr6:33405606 [GRCh37]
Chr6:6p21.32 |
pathogenic|likely pathogenic |
| NM_006772.3(SYNGAP1):c.1760G>C (p.Arg587Thr) |
single nucleotide variant |
Intellectual disability [RCV001260839] |
Chr6:33440812 [GRCh38]
Chr6:33408589 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1403T>C (p.Met468Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001262198] |
Chr6:33438435 [GRCh38]
Chr6:33406212 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3415C>T (p.Gln1139Ter) |
single nucleotide variant |
Complex neurodevelopmental disorder [RCV001265348]|Intellectual disability, autosomal dominant 5 [RCV003225964]|not provided [RCV001269932] |
Chr6:33444450 [GRCh38]
Chr6:33412227 [GRCh37]
Chr6:6p21.32 |
pathogenic|likely pathogenic |
| NM_006772.3(SYNGAP1):c.928G>A (p.Glu310Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001261156]|not provided [RCV002225816] |
Chr6:33437833 [GRCh38]
Chr6:33405610 [GRCh37]
Chr6:6p21.32 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_006772.3(SYNGAP1):c.968T>G (p.Leu323Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001257343] |
Chr6:33437873 [GRCh38]
Chr6:33405650 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.4006G>A (p.Glu1336Lys) |
single nucleotide variant |
Complex neurodevelopmental disorder [RCV001265350]|Intellectual disability, autosomal dominant 5 [RCV001880090] |
Chr6:33451880 [GRCh38]
Chr6:33419657 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.1259T>C (p.Phe420Ser) |
single nucleotide variant |
Intellectual disability [RCV001260877] |
Chr6:33438164 [GRCh38]
Chr6:33405941 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.3920C>A (p.Pro1307Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001262523] |
Chr6:33451794 [GRCh38]
Chr6:33419571 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1393C>G (p.Leu465Val) |
single nucleotide variant |
not provided [RCV001310909] |
Chr6:33438425 [GRCh38]
Chr6:33406202 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.926del (p.Gly309fs) |
deletion |
not provided [RCV001268311] |
Chr6:33437828 [GRCh38]
Chr6:33405605 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1387-2del |
deletion |
not provided [RCV001268535] |
Chr6:33438417 [GRCh38]
Chr6:33406194 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.2974del (p.Val992fs) |
deletion |
not provided [RCV001268577] |
Chr6:33443523 [GRCh38]
Chr6:33411300 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NCBI36/hg18 6p21.32(chr6:33451137-33543925)x1 |
copy number loss |
Complex neurodevelopmental disorder [RCV001264793] |
Chr6:33451137..33543925 [NCBI36]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.435_447dup (p.Leu150fs) |
duplication |
Complex neurodevelopmental disorder [RCV001265529] |
Chr6:33432729..33432730 [GRCh38]
Chr6:33400506..33400507 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1814C>G (p.Pro605Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV001266312] |
Chr6:33440866 [GRCh38]
Chr6:33408643 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1904A>G (p.Asn635Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004035414]|Intellectual disability, autosomal dominant 5 [RCV001839461]|not provided [RCV002275337] |
Chr6:33440956 [GRCh38]
Chr6:33408733 [GRCh37]
Chr6:6p21.32 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_006772.3(SYNGAP1):c.2520T>C (p.Ser840=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001402431]|not provided [RCV001257172] |
Chr6:33443072 [GRCh38]
Chr6:33410849 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3162T>G (p.Gly1054=) |
single nucleotide variant |
not provided [RCV004597612] |
Chr6:33443714 [GRCh38]
Chr6:33411491 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1030G>A (p.Gly344Ser) |
single nucleotide variant |
Complex neurodevelopmental disorder [RCV001265527]|Intellectual disability, autosomal dominant 5 [RCV001260588]|not provided [RCV003985487] |
Chr6:33437935 [GRCh38]
Chr6:33405712 [GRCh37]
Chr6:6p21.32 |
pathogenic|likely pathogenic|not provided |
| NM_006772.3(SYNGAP1):c.2888A>G (p.His963Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001297526] |
Chr6:33443440 [GRCh38]
Chr6:33411217 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NC_000006.11:g.(?_33415675)_33422480del |
deletion |
Intellectual disability, autosomal dominant 5 [RCV001325058] |
|
uncertain significance |
| NM_006772.3(SYNGAP1):c.3943T>C (p.Trp1315Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001330305] |
Chr6:33451817 [GRCh38]
Chr6:33419594 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.28C>A (p.Arg10=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001306061] |
Chr6:33420292 [GRCh38]
Chr6:33388069 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.3635C>T (p.Ser1212Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001330304] |
Chr6:33446627 [GRCh38]
Chr6:33414404 [GRCh37]
Chr6:6p21.32 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_006772.3(SYNGAP1):c.3442A>T (p.Met1148Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001307639] |
Chr6:33444477 [GRCh38]
Chr6:33412254 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2561G>A (p.Arg854His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001299021] |
Chr6:33443113 [GRCh38]
Chr6:33410890 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3582+5G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001320096]|not provided [RCV001814304] |
Chr6:33444622 [GRCh38]
Chr6:33412399 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1556A>C (p.Glu519Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001330300] |
Chr6:33438799 [GRCh38]
Chr6:33406576 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.1724G>A (p.Arg575His) |
single nucleotide variant |
Inborn genetic diseases [RCV003169546]|Intellectual disability, autosomal dominant 5 [RCV001330301]|SYNGAP1-related disorder [RCV004740668] |
Chr6:33440776 [GRCh38]
Chr6:33408553 [GRCh37]
Chr6:6p21.32 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_006772.3(SYNGAP1):c.2393C>T (p.Pro798Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001330302] |
Chr6:33442945 [GRCh38]
Chr6:33410722 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3237C>G (p.Ser1079Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001352261] |
Chr6:33443789 [GRCh38]
Chr6:33411566 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.265C>G (p.Pro89Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001333578] |
Chr6:33425873 [GRCh38]
Chr6:33393650 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1821C>T (p.Leu607=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001392810] |
Chr6:33440873 [GRCh38]
Chr6:33408650 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.585A>G (p.Ala195=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001415191] |
Chr6:33435227 [GRCh38]
Chr6:33403004 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2874CCA[7] (p.His965_His966dup) |
microsatellite |
Intellectual disability, autosomal dominant 5 [RCV001338124] |
Chr6:33443423..33443424 [GRCh38]
Chr6:33411200..33411201 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2218C>T (p.Arg740Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002431997]|Intellectual disability, autosomal dominant 5 [RCV001352378] |
Chr6:33441683 [GRCh38]
Chr6:33409460 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.515G>A (p.Arg172Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001367565] |
Chr6:33435157 [GRCh38]
Chr6:33402934 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.664-5T>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001363183] |
Chr6:33435510 [GRCh38]
Chr6:33403287 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.2829C>T (p.Gly943=) |
single nucleotide variant |
Inborn genetic diseases [RCV002438860]|Intellectual disability, autosomal dominant 5 [RCV001369316] |
Chr6:33443381 [GRCh38]
Chr6:33411158 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.91C>T (p.Arg31Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001382704] |
Chr6:33423500 [GRCh38]
Chr6:33391277 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2249G>A (p.Gly750Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001368336] |
Chr6:33441714 [GRCh38]
Chr6:33409491 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2214T>C (p.Ser738=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001422747] |
Chr6:33441679 [GRCh38]
Chr6:33409456 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2971G>A (p.Gly991Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001330303]|not provided [RCV003433115] |
Chr6:33443523 [GRCh38]
Chr6:33411300 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2704G>A (p.Ala902Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001327803] |
Chr6:33443256 [GRCh38]
Chr6:33411033 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.745G>A (p.Ala249Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001333579] |
Chr6:33435596 [GRCh38]
Chr6:33403373 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2873A>C (p.His958Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001303898] |
Chr6:33443425 [GRCh38]
Chr6:33411202 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.3661C>T (p.Arg1221Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002456538]|Intellectual disability, autosomal dominant 5 [RCV001358695] |
Chr6:33446653 [GRCh38]
Chr6:33414430 [GRCh37]
Chr6:6p21.32 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_006772.3(SYNGAP1):c.2699C>T (p.Thr900Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002550173]|Intellectual disability, autosomal dominant 5 [RCV001373552] |
Chr6:33443251 [GRCh38]
Chr6:33411028 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.3075G>A (p.Gln1025=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001421954] |
Chr6:33443627 [GRCh38]
Chr6:33411404 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2742C>T (p.Asp914=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001433996]|SYNGAP1-related disorder [RCV004550160]|not provided [RCV001712900] |
Chr6:33443294 [GRCh38]
Chr6:33411071 [GRCh37]
Chr6:6p21.32 |
benign|likely benign |
| NM_006772.3(SYNGAP1):c.1303_1304dup (p.Leu435fs) |
duplication |
not provided [RCV001310908] |
Chr6:33438207..33438208 [GRCh38]
Chr6:33405984..33405985 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3408+29G>A |
single nucleotide variant |
not provided [RCV001581629] |
Chr6:33443989 [GRCh38]
Chr6:33411766 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2369C>G (p.Thr790Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001319908] |
Chr6:33442921 [GRCh38]
Chr6:33410698 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2111G>C (p.Ser704Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001338511] |
Chr6:33441370 [GRCh38]
Chr6:33409147 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2695A>G (p.Ile899Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001300229] |
Chr6:33443247 [GRCh38]
Chr6:33411024 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3977C>T (p.Pro1326Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001301654] |
Chr6:33451851 [GRCh38]
Chr6:33419628 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1913+5G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001300295] |
Chr6:33440970 [GRCh38]
Chr6:33408747 [GRCh37]
Chr6:6p21.32 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_006772.3(SYNGAP1):c.286G>A (p.Gly96Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001346921] |
Chr6:33425894 [GRCh38]
Chr6:33393671 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2095G>A (p.Val699Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004036856]|Intellectual disability, autosomal dominant 5 [RCV001362987] |
Chr6:33441354 [GRCh38]
Chr6:33409131 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2852A>G (p.His951Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001300335] |
Chr6:33443404 [GRCh38]
Chr6:33411181 [GRCh37]
Chr6:6p21.32 |
likely pathogenic|uncertain significance |
| NM_006772.3(SYNGAP1):c.3903dup (p.Pro1304fs) |
duplication |
Inborn genetic diseases [RCV002357147]|Intellectual disability, autosomal dominant 5 [RCV001320409] |
Chr6:33451771..33451772 [GRCh38]
Chr6:33419548..33419549 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.127G>A (p.Gly43Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001330299] |
Chr6:33423536 [GRCh38]
Chr6:33391313 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1676+5G>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001372338] |
Chr6:33438924 [GRCh38]
Chr6:33406701 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1456G>A (p.Glu486Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001338949] |
Chr6:33438488 [GRCh38]
Chr6:33406265 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2669G>A (p.Arg890His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001341108] |
Chr6:33443221 [GRCh38]
Chr6:33410998 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.371C>T (p.Ala124Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001344183]|not provided [RCV004809567] |
Chr6:33432236 [GRCh38]
Chr6:33400013 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.86T>C (p.Met29Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001314973] |
Chr6:33423495 [GRCh38]
Chr6:33391272 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1730C>G (p.Ala577Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001307884]|not provided [RCV003313211] |
Chr6:33440782 [GRCh38]
Chr6:33408559 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NC_000006.11:g.(?_33388042)_(33756893_?)dup |
duplication |
Intellectual disability, autosomal dominant 5 [RCV001300699] |
Chr6:33388042..33756893 [GRCh37]
Chr6:6p21.32-21.31 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3119G>T (p.Gly1040Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001325894] |
Chr6:33443671 [GRCh38]
Chr6:33411448 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1172G>T (p.Gly391Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001313229] |
Chr6:33438077 [GRCh38]
Chr6:33405854 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2960A>G (p.Asp987Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001370573] |
Chr6:33443512 [GRCh38]
Chr6:33411289 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2812G>A (p.Gly938Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001319401] |
Chr6:33443364 [GRCh38]
Chr6:33411141 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1811C>T (p.Ser604Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001363628] |
Chr6:33440863 [GRCh38]
Chr6:33408640 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2935T>C (p.Phe979Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001296534] |
Chr6:33443487 [GRCh38]
Chr6:33411264 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.29G>C (p.Arg10Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001319575]|not provided [RCV001751614] |
Chr6:33420293 [GRCh38]
Chr6:33388070 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.654_655del (p.Phe218fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV001331640] |
Chr6:33435295..33435296 [GRCh38]
Chr6:33403072..33403073 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1914-9C>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001339560] |
Chr6:33441164 [GRCh38]
Chr6:33408941 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3653A>T (p.Glu1218Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001314484]|SYNGAP1-related disorder [RCV004548158] |
Chr6:33446645 [GRCh38]
Chr6:33414422 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2302G>T (p.Asp768Tyr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001371273] |
Chr6:33442460 [GRCh38]
Chr6:33410237 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1487A>G (p.Glu496Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001359460] |
Chr6:33438519 [GRCh38]
Chr6:33406296 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3397A>G (p.Ile1133Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001295714] |
Chr6:33443949 [GRCh38]
Chr6:33411726 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.323A>G (p.Lys108Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001305238] |
Chr6:33432188 [GRCh38]
Chr6:33399965 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3179dup (p.Gly1061fs) |
duplication |
Intellectual disability, autosomal dominant 5 [RCV001871641]|not provided [RCV001281630] |
Chr6:33443726..33443727 [GRCh38]
Chr6:33411503..33411504 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.936dup (p.Glu313fs) |
duplication |
Neurodevelopmental disorder [RCV001374936] |
Chr6:33437840..33437841 [GRCh38]
Chr6:33405617..33405618 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2052C>T (p.Asp684=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001421296] |
Chr6:33441311 [GRCh38]
Chr6:33409088 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2015C>T (p.Thr672Met) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001360672]|not provided [RCV003433122] |
Chr6:33441274 [GRCh38]
Chr6:33409051 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.762G>C (p.Lys254Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001316750] |
Chr6:33435613 [GRCh38]
Chr6:33403390 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.742C>T (p.Arg248Trp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001352576] |
Chr6:33435593 [GRCh38]
Chr6:33403370 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2700G>A (p.Thr900=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001359600] |
Chr6:33443252 [GRCh38]
Chr6:33411029 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.3595G>A (p.Glu1199Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001326560] |
Chr6:33446587 [GRCh38]
Chr6:33414364 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1341T>A (p.Val447=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001474950] |
Chr6:33438246 [GRCh38]
Chr6:33406023 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.694G>A (p.Ala232Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001513569] |
Chr6:33435545 [GRCh38]
Chr6:33403322 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.2387dup (p.Pro797fs) |
duplication |
Intellectual disability, autosomal dominant 5 [RCV001384526] |
Chr6:33442934..33442935 [GRCh38]
Chr6:33410711..33410712 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.51C>T (p.Ser17=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001487603] |
Chr6:33420315 [GRCh38]
Chr6:33388092 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2694C>T (p.Ser898=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001488604] |
Chr6:33443246 [GRCh38]
Chr6:33411023 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3970C>T (p.Pro1324Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001474106] |
Chr6:33451844 [GRCh38]
Chr6:33419621 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1029C>T (p.Val343=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001471647] |
Chr6:33437934 [GRCh38]
Chr6:33405711 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1770C>T (p.Ser590=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001459615] |
Chr6:33440822 [GRCh38]
Chr6:33408599 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1146A>G (p.Gly382=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001452366]|not provided [RCV003434237] |
Chr6:33438051 [GRCh38]
Chr6:33405828 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3632del (p.Met1211fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV001381313] |
Chr6:33446624 [GRCh38]
Chr6:33414401 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1136C>A (p.Ser379Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001390702] |
Chr6:33438041 [GRCh38]
Chr6:33405818 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.190-9_190-8insCCCA |
insertion |
Intellectual disability, autosomal dominant 5 [RCV001390715] |
Chr6:33425789..33425790 [GRCh38]
Chr6:33393566..33393567 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.190-7C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001463896] |
Chr6:33425791 [GRCh38]
Chr6:33393568 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2717del (p.Leu906fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV001386416] |
Chr6:33443269 [GRCh38]
Chr6:33411046 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3964G>C (p.Ala1322Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001521828] |
Chr6:33451838 [GRCh38]
Chr6:33419615 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.1531+9C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001501496]|SYNGAP1-related disorder [RCV004550266] |
Chr6:33438572 [GRCh38]
Chr6:33406349 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.930G>A (p.Glu310=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001457049] |
Chr6:33437835 [GRCh38]
Chr6:33405612 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.114G>T (p.Pro38=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001429559]|not provided [RCV001865912] |
Chr6:33423523 [GRCh38]
Chr6:33391300 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.387G>A (p.Ser129=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001377168] |
Chr6:33432252 [GRCh38]
Chr6:33400029 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.3306C>G (p.Ala1102=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001489914] |
Chr6:33443858 [GRCh38]
Chr6:33411635 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.190-8T>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001429914] |
Chr6:33425790 [GRCh38]
Chr6:33393567 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1416G>A (p.Glu472=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001435796] |
Chr6:33438448 [GRCh38]
Chr6:33406225 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3039T>C (p.Ser1013=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001446112] |
Chr6:33443591 [GRCh38]
Chr6:33411368 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3603G>A (p.Glu1201=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001436097] |
Chr6:33446595 [GRCh38]
Chr6:33414372 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1374A>T (p.Thr458=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001446378] |
Chr6:33438279 [GRCh38]
Chr6:33406056 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.393C>T (p.Gly131=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001427779] |
Chr6:33432690 [GRCh38]
Chr6:33400467 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1022_1023del (p.Gly341fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV001389382] |
Chr6:33437927..33437928 [GRCh38]
Chr6:33405704..33405705 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3594C>T (p.Tyr1198=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001430161] |
Chr6:33446586 [GRCh38]
Chr6:33414363 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.933C>T (p.His311=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001409775] |
Chr6:33437838 [GRCh38]
Chr6:33405615 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3794+74G>T |
single nucleotide variant |
not provided [RCV001540378]|not specified [RCV004594330] |
Chr6:33446860 [GRCh38]
Chr6:33414637 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.2979C>T (p.Pro993=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001434215] |
Chr6:33443531 [GRCh38]
Chr6:33411308 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3648G>C (p.Leu1216=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001397921] |
Chr6:33446640 [GRCh38]
Chr6:33414417 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2256G>A (p.Ser752=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001432683] |
Chr6:33441721 [GRCh38]
Chr6:33409498 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1914-59TG[12] |
microsatellite |
not provided [RCV001530895] |
Chr6:33441114..33441115 [GRCh38]
Chr6:33408891..33408892 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1534G>T (p.Glu512Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001385049] |
Chr6:33438777 [GRCh38]
Chr6:33406554 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1311C>T (p.Pro437=) |
single nucleotide variant |
Inborn genetic diseases [RCV002384576]|Intellectual disability, autosomal dominant 5 [RCV001400557]|not provided [RCV001587396] |
Chr6:33438216 [GRCh38]
Chr6:33405993 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2868C>T (p.Ser956=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001410261] |
Chr6:33443420 [GRCh38]
Chr6:33411197 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1715G>C (p.Trp572Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001381135] |
Chr6:33440767 [GRCh38]
Chr6:33408544 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.646C>T (p.Gln216Ter) |
single nucleotide variant |
not provided [RCV001542081] |
Chr6:33435288 [GRCh38]
Chr6:33403065 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.828dup (p.Lys277fs) |
duplication |
Intellectual disability, autosomal dominant 5 [RCV001388600]|SYNGAP1-related disorder [RCV004550100]|not provided [RCV001532539] |
Chr6:33437727..33437728 [GRCh38]
Chr6:33405504..33405505 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.703T>C (p.Ser235Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001379232] |
Chr6:33435554 [GRCh38]
Chr6:33403331 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.3780G>A (p.Lys1260=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001447415]|not provided [RCV003326574]|not specified [RCV004801018] |
Chr6:33446772 [GRCh38]
Chr6:33414549 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1118G>T (p.Gly373Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001542412] |
Chr6:33438023 [GRCh38]
Chr6:33405800 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.190-2A>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001388698] |
Chr6:33425796 [GRCh38]
Chr6:33393573 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.630C>T (p.His210=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001447580] |
Chr6:33435272 [GRCh38]
Chr6:33403049 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3138del (p.Ser1047fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV002250764]|not provided [RCV001543502] |
Chr6:33443686 [GRCh38]
Chr6:33411463 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.743G>C (p.Arg248Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001376009] |
Chr6:33435594 [GRCh38]
Chr6:33403371 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.684A>T (p.Thr228=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001417806] |
Chr6:33435535 [GRCh38]
Chr6:33403312 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2595C>T (p.Ala865=) |
single nucleotide variant |
Inborn genetic diseases [RCV002432245]|Intellectual disability, autosomal dominant 5 [RCV001447836]|SYNGAP1-related disorder [RCV004550184] |
Chr6:33443147 [GRCh38]
Chr6:33410924 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.519G>A (p.Leu173=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001442955] |
Chr6:33435161 [GRCh38]
Chr6:33402938 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2118A>G (p.Glu706=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001445566] |
Chr6:33441583 [GRCh38]
Chr6:33409360 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2874CCA[6] (p.His966dup) |
microsatellite |
Intellectual disability, autosomal dominant 5 [RCV001432107] |
Chr6:33443423..33443424 [GRCh38]
Chr6:33411200..33411201 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.573T>C (p.Ser191=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001411501] |
Chr6:33435215 [GRCh38]
Chr6:33402992 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.510-45T>G |
single nucleotide variant |
not provided [RCV001535356] |
Chr6:33435107 [GRCh38]
Chr6:33402884 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.1531+8C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001416517] |
Chr6:33438571 [GRCh38]
Chr6:33406348 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.339G>A (p.Gly113=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001448113] |
Chr6:33432204 [GRCh38]
Chr6:33399981 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1191C>T (p.Cys397=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001445663] |
Chr6:33438096 [GRCh38]
Chr6:33405873 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1248A>G (p.Leu416=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001411643] |
Chr6:33438153 [GRCh38]
Chr6:33405930 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.67+9T>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001438513] |
Chr6:33420340 [GRCh38]
Chr6:33388117 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1446C>T (p.Leu482=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001489521] |
Chr6:33438478 [GRCh38]
Chr6:33406255 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1464G>A (p.Thr488=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001457172] |
Chr6:33438496 [GRCh38]
Chr6:33406273 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2730T>A (p.Gly910=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001473587] |
Chr6:33443282 [GRCh38]
Chr6:33411059 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2017C>T (p.Leu673=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001486438] |
Chr6:33441276 [GRCh38]
Chr6:33409053 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1913+45_1913+59del |
microsatellite |
Intellectual disability, autosomal dominant 5 [RCV001815610]|not provided [RCV001667145] |
Chr6:33440987..33441001 [GRCh38]
Chr6:33408764..33408778 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.3936C>T (p.Ala1312=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001496673]|not provided [RCV003434286] |
Chr6:33451810 [GRCh38]
Chr6:33419587 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2294+201T>G |
single nucleotide variant |
not provided [RCV001652042] |
Chr6:33441960 [GRCh38]
Chr6:33409737 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.3963A>T (p.Pro1321=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001452661] |
Chr6:33451837 [GRCh38]
Chr6:33419614 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2562C>T (p.Arg854=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001480652] |
Chr6:33443114 [GRCh38]
Chr6:33410891 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1386+60T>C |
single nucleotide variant |
not provided [RCV001613578] |
Chr6:33438351 [GRCh38]
Chr6:33406128 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.510-51G>A |
single nucleotide variant |
not provided [RCV001586979] |
Chr6:33435101 [GRCh38]
Chr6:33402878 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3456G>A (p.Glu1152=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001460080] |
Chr6:33444491 [GRCh38]
Chr6:33412268 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2116-4C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001463322] |
Chr6:33441577 [GRCh38]
Chr6:33409354 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2568C>T (p.Asn856=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001453246]|not provided [RCV001587419] |
Chr6:33443120 [GRCh38]
Chr6:33410897 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3794+63T>C |
single nucleotide variant |
not provided [RCV001612255]|not specified [RCV004594398] |
Chr6:33446849 [GRCh38]
Chr6:33414626 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.2336+17T>C |
single nucleotide variant |
not provided [RCV001714902] |
Chr6:33442511 [GRCh38]
Chr6:33410288 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.1198G>C (p.Val400Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001514410] |
Chr6:33438103 [GRCh38]
Chr6:33405880 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.3404A>C (p.Lys1135Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001513832]|not provided [RCV003319475] |
Chr6:33443956 [GRCh38]
Chr6:33411733 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.3156_3167del (p.1053SGGG[1]) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV001401183] |
Chr6:33443706..33443717 [GRCh38]
Chr6:33411483..33411494 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3045T>C (p.Thr1015=) |
single nucleotide variant |
Inborn genetic diseases [RCV002449325]|Intellectual disability, autosomal dominant 5 [RCV001499910]|not provided [RCV001568069] |
Chr6:33443597 [GRCh38]
Chr6:33411374 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2436C>T (p.Pro812=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001439417] |
Chr6:33442988 [GRCh38]
Chr6:33410765 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.645C>G (p.Gly215=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001453266] |
Chr6:33435287 [GRCh38]
Chr6:33403064 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1326A>G (p.Lys442=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001512105] |
Chr6:33438231 [GRCh38]
Chr6:33406008 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.3255G>A (p.Arg1085=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001501922] |
Chr6:33443807 [GRCh38]
Chr6:33411584 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.244C>T (p.Leu82=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001488319] |
Chr6:33425852 [GRCh38]
Chr6:33393629 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3583-4G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001451491] |
Chr6:33446571 [GRCh38]
Chr6:33414348 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.603T>G (p.Asp201Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001519064]|not provided [RCV004728753] |
Chr6:33435245 [GRCh38]
Chr6:33403022 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.1997A>G (p.Glu666Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001442908] |
Chr6:33441256 [GRCh38]
Chr6:33409033 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.228C>T (p.Ser76=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001479018]|not provided [RCV001566164] |
Chr6:33425836 [GRCh38]
Chr6:33393613 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1677-2A>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001378478] |
Chr6:33440727 [GRCh38]
Chr6:33408504 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.2234del (p.Pro745fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV001383669] |
Chr6:33441698 [GRCh38]
Chr6:33409475 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2125C>T (p.Leu709=) |
single nucleotide variant |
Inborn genetic diseases [RCV002421040]|Intellectual disability, autosomal dominant 5 [RCV001459430]|not provided [RCV001581142]|not specified [RCV001820152] |
Chr6:33441590 [GRCh38]
Chr6:33409367 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3879C>T (p.Asp1293=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001432567] |
Chr6:33447927 [GRCh38]
Chr6:33415704 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2955T>C (p.Ser985=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001481023] |
Chr6:33443507 [GRCh38]
Chr6:33411284 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3558G>A (p.Ser1186=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001471942] |
Chr6:33444593 [GRCh38]
Chr6:33412370 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1394T>C (p.Leu465Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001379189] |
Chr6:33438426 [GRCh38]
Chr6:33406203 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.75G>T (p.Arg25=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001468268] |
Chr6:33423484 [GRCh38]
Chr6:33391261 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.36C>T (p.Ser12=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001497526] |
Chr6:33420300 [GRCh38]
Chr6:33388077 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2967T>C (p.Ser989=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001455140] |
Chr6:33443519 [GRCh38]
Chr6:33411296 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1802C>A (p.Ala601Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001378082] |
Chr6:33440854 [GRCh38]
Chr6:33408631 [GRCh37]
Chr6:6p21.32 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_006772.3(SYNGAP1):c.3672del (p.Ser1225fs) |
deletion |
not provided [RCV001727359] |
Chr6:33446664 [GRCh38]
Chr6:33414441 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.2003C>T (p.Ser668Phe) |
single nucleotide variant |
not provided [RCV001756998] |
Chr6:33441262 [GRCh38]
Chr6:33409039 [GRCh37]
Chr6:6p21.32 |
likely pathogenic|uncertain significance |
| NM_006772.3(SYNGAP1):c.388-4C>G |
single nucleotide variant |
not provided [RCV001727358] |
Chr6:33432681 [GRCh38]
Chr6:33400458 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1329C>T (p.Gly443=) |
single nucleotide variant |
not provided [RCV001756240] |
Chr6:33438234 [GRCh38]
Chr6:33406011 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2434C>T (p.Pro812Ser) |
single nucleotide variant |
not provided [RCV001754751] |
Chr6:33442986 [GRCh38]
Chr6:33410763 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.303C>A (p.His101Gln) |
single nucleotide variant |
not provided [RCV001760951] |
Chr6:33432168 [GRCh38]
Chr6:33399945 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2087T>C (p.Leu696Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002273207] |
Chr6:33441346 [GRCh38]
Chr6:33409123 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.1976C>T (p.Ser659Phe) |
single nucleotide variant |
not provided [RCV001761003] |
Chr6:33441235 [GRCh38]
Chr6:33409012 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.196C>G (p.Pro66Ala) |
single nucleotide variant |
not provided [RCV001762976] |
Chr6:33425804 [GRCh38]
Chr6:33393581 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2215G>C (p.Glu739Gln) |
single nucleotide variant |
not provided [RCV003127012] |
Chr6:33441680 [GRCh38]
Chr6:33409457 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1752C>G (p.Ile584Met) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002538715]|not provided [RCV001732803] |
Chr6:33440804 [GRCh38]
Chr6:33408581 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3534C>A (p.Tyr1178Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001783841] |
Chr6:33444569 [GRCh38]
Chr6:33412346 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.1042G>A (p.Val348Met) |
single nucleotide variant |
See cases [RCV002252587] |
Chr6:33437947 [GRCh38]
Chr6:33405724 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1606T>G (p.Leu536Val) |
single nucleotide variant |
See cases [RCV002253132] |
Chr6:33438849 [GRCh38]
Chr6:33406626 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3795-7C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002538808]|not provided [RCV001772474] |
Chr6:33447836 [GRCh38]
Chr6:33415613 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.3795-1G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002280351] |
Chr6:33447842 [GRCh38]
Chr6:33415619 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1312del (p.Ala438fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV001783842] |
Chr6:33438217 [GRCh38]
Chr6:33405994 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.2854G>A (p.Gly952Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001784160] |
Chr6:33443406 [GRCh38]
Chr6:33411183 [GRCh37]
Chr6:6p21.32 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_006772.3(SYNGAP1):c.1409T>C (p.Met470Thr) |
single nucleotide variant |
not provided [RCV001764989] |
Chr6:33438441 [GRCh38]
Chr6:33406218 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3377G>T (p.Gly1126Val) |
single nucleotide variant |
not provided [RCV001752468] |
Chr6:33443929 [GRCh38]
Chr6:33411706 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2711T>C (p.Met904Thr) |
single nucleotide variant |
not provided [RCV001752479] |
Chr6:33443263 [GRCh38]
Chr6:33411040 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.291G>T (p.Glu97Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002544138]|SYNGAP1-related disorder [RCV004552011]|not provided [RCV001763934] |
Chr6:33425899 [GRCh38]
Chr6:33393676 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.13C>T (p.Arg5Ter) |
single nucleotide variant |
not provided [RCV001751832] |
Chr6:33420277 [GRCh38]
Chr6:33388054 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1045C>T (p.Pro349Ser) |
single nucleotide variant |
not provided [RCV001768604] |
Chr6:33437950 [GRCh38]
Chr6:33405727 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1006AAG[1] (p.Lys337del) |
microsatellite |
Intellectual disability, autosomal dominant 5 [RCV003507388]|not provided [RCV001767619] |
Chr6:33437911..33437913 [GRCh38]
Chr6:33405688..33405690 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3788T>C (p.Ile1263Thr) |
single nucleotide variant |
not provided [RCV001752520] |
Chr6:33446780 [GRCh38]
Chr6:33414557 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1741C>T (p.Arg581Trp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003326155]|not provided [RCV001752334] |
Chr6:33440793 [GRCh38]
Chr6:33408570 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2221C>T (p.Pro741Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003615877]|not provided [RCV001770890] |
Chr6:33441686 [GRCh38]
Chr6:33409463 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3345_3353dup (p.1118SGG[3]) |
duplication |
not provided [RCV001765678] |
Chr6:33443896..33443897 [GRCh38]
Chr6:33411673..33411674 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3686A>C (p.Gln1229Pro) |
single nucleotide variant |
not provided [RCV001760650] |
Chr6:33446678 [GRCh38]
Chr6:33414455 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.250C>G (p.Arg84Gly) |
single nucleotide variant |
not provided [RCV001763674] |
Chr6:33425858 [GRCh38]
Chr6:33393635 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2243T>G (p.Leu748Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002034466]|not provided [RCV001763090] |
Chr6:33441708 [GRCh38]
Chr6:33409485 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.1947G>C (p.Met649Ile) |
single nucleotide variant |
not provided [RCV001794824] |
Chr6:33441206 [GRCh38]
Chr6:33408983 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.899C>T (p.Ser300Phe) |
single nucleotide variant |
not provided [RCV001763567] |
Chr6:33437804 [GRCh38]
Chr6:33405581 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2538dup (p.Gln847fs) |
duplication |
Intellectual disability, autosomal dominant 5 [RCV001785046] |
Chr6:33443089..33443090 [GRCh38]
Chr6:33410866..33410867 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.406C>T (p.Arg136Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002573508]|Intellectual disability, autosomal dominant 5 [RCV001990950] |
Chr6:33432703 [GRCh38]
Chr6:33400480 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.847del (p.Glu283fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV001808059] |
Chr6:33437752 [GRCh38]
Chr6:33405529 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.2945A>G (p.Tyr982Cys) |
single nucleotide variant |
not provided [RCV001760988] |
Chr6:33443497 [GRCh38]
Chr6:33411274 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.508C>T (p.Arg170Trp) |
single nucleotide variant |
not provided [RCV001757263] |
Chr6:33432805 [GRCh38]
Chr6:33400582 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1639T>C (p.Cys547Arg) |
single nucleotide variant |
not provided [RCV001757276] |
Chr6:33438882 [GRCh38]
Chr6:33406659 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.501C>T (p.Asp167=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002074301]|not specified [RCV001819299] |
Chr6:33432798 [GRCh38]
Chr6:33400575 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2619C>G (p.Ser873Arg) |
single nucleotide variant |
not specified [RCV001820398] |
Chr6:33443171 [GRCh38]
Chr6:33410948 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.895C>T (p.Arg299Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002541520]|not provided [RCV001816426] |
Chr6:33437800 [GRCh38]
Chr6:33405577 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.3594C>G (p.Tyr1198Ter) |
single nucleotide variant |
not provided [RCV001816427] |
Chr6:33446586 [GRCh38]
Chr6:33414363 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.3174T>G (p.Gly1058=) |
single nucleotide variant |
not provided [RCV003426203]|not specified [RCV001817108] |
Chr6:33443726 [GRCh38]
Chr6:33411503 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.725G>A (p.Trp242Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001807893] |
Chr6:33435576 [GRCh38]
Chr6:33403353 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.3372A>G (p.Gly1124=) |
single nucleotide variant |
not provided [RCV004809266] |
Chr6:33443924 [GRCh38]
Chr6:33411701 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3303C>T (p.Pro1101=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002074311]|not specified [RCV001819493] |
Chr6:33443855 [GRCh38]
Chr6:33411632 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1240A>G (p.Met414Val) |
single nucleotide variant |
not provided [RCV004798268] |
Chr6:33438145 [GRCh38]
Chr6:33405922 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1942T>C (p.Phe648Leu) |
single nucleotide variant |
not provided [RCV004798652] |
Chr6:33441201 [GRCh38]
Chr6:33408978 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.611C>G (p.Ser204Cys) |
single nucleotide variant |
not provided [RCV001806570] |
Chr6:33435253 [GRCh38]
Chr6:33403030 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1902del (p.Asn635fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV001992394] |
Chr6:33440953 [GRCh38]
Chr6:33408730 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1742G>A (p.Arg581Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001877998] |
Chr6:33440794 [GRCh38]
Chr6:33408571 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.155C>T (p.Ser52Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002043143] |
Chr6:33423564 [GRCh38]
Chr6:33391341 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2195G>C (p.Arg732Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001877814] |
Chr6:33441660 [GRCh38]
Chr6:33409437 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| GRCh37/hg19 6p21.32-21.31(chr6:33069892-33751391) |
copy number gain |
not specified [RCV002053566] |
Chr6:33069892..33751391 [GRCh37]
Chr6:6p21.32-21.31 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3583-3C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001875562]|not specified [RCV003331222] |
Chr6:33446572 [GRCh38]
Chr6:33414349 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3196C>T (p.Pro1066Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001843837] |
Chr6:33443748 [GRCh38]
Chr6:33411525 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.913A>G (p.Thr305Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002011369] |
Chr6:33437818 [GRCh38]
Chr6:33405595 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1819C>G (p.Leu607Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002014720]|not provided [RCV004591658] |
Chr6:33440871 [GRCh38]
Chr6:33408648 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1676+1G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001869805]|SYNGAP1-related encephalopathy [RCV001822991] |
Chr6:33438920 [GRCh38]
Chr6:33406697 [GRCh37]
Chr6:6p21.32 |
pathogenic|likely pathogenic |
| NM_006772.3(SYNGAP1):c.2760A>G (p.Gln920=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002024574] |
Chr6:33443312 [GRCh38]
Chr6:33411089 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.3141_3142del (p.Gly1048fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV002045000] |
Chr6:33443693..33443694 [GRCh38]
Chr6:33411470..33411471 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3529G>A (p.Glu1177Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002047568] |
Chr6:33444564 [GRCh38]
Chr6:33412341 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.958G>C (p.Val320Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002009510] |
Chr6:33437863 [GRCh38]
Chr6:33405640 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1913+2_1913+5del |
deletion |
Intellectual disability, autosomal dominant 5 [RCV002002948] |
Chr6:33440965..33440968 [GRCh38]
Chr6:33408742..33408745 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.67+20G>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002012878] |
Chr6:33420351 [GRCh38]
Chr6:33388128 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.2582C>T (p.Ser861Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002008314] |
Chr6:33443134 [GRCh38]
Chr6:33410911 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2105A>G (p.Gln702Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002017776] |
Chr6:33441364 [GRCh38]
Chr6:33409141 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2420A>T (p.Tyr807Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002010159] |
Chr6:33442972 [GRCh38]
Chr6:33410749 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2719A>T (p.Ser907Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002020050] |
Chr6:33443271 [GRCh38]
Chr6:33411048 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NC_000006.11:g.(?_33393555)_(33393700_?)dup |
duplication |
Intellectual disability, autosomal dominant 5 [RCV002026751] |
Chr6:33393555..33393700 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.1913+1G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002033106] |
Chr6:33440966 [GRCh38]
Chr6:33408743 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.1622C>G (p.Ala541Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001994150] |
Chr6:33438865 [GRCh38]
Chr6:33406642 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3640C>T (p.Arg1214Trp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001995440] |
Chr6:33446632 [GRCh38]
Chr6:33414409 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3133del (p.Ala1045fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV002007246] |
Chr6:33443685 [GRCh38]
Chr6:33411462 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.76G>A (p.Gly26Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002033952] |
Chr6:33423485 [GRCh38]
Chr6:33391262 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.3179G>T (p.Gly1060Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002034932] |
Chr6:33443731 [GRCh38]
Chr6:33411508 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.2681G>A (p.Gly894Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002037466] |
Chr6:33443233 [GRCh38]
Chr6:33411010 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.600G>C (p.Leu200Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002041645] |
Chr6:33435242 [GRCh38]
Chr6:33403019 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2207G>A (p.Arg736His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002042349] |
Chr6:33441672 [GRCh38]
Chr6:33409449 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2435C>A (p.Pro812His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002043530] |
Chr6:33442987 [GRCh38]
Chr6:33410764 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3348GGGCAGCGG[3] (p.1118SGG[3]) |
microsatellite |
Inborn genetic diseases [RCV002545285]|Intellectual disability, autosomal dominant 5 [RCV002049762] |
Chr6:33443897..33443898 [GRCh38]
Chr6:33411674..33411675 [GRCh37]
Chr6:6p21.32 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_006772.3(SYNGAP1):c.3795-10G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002019330] |
Chr6:33447833 [GRCh38]
Chr6:33415610 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.3638A>C (p.Asn1213Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002608008]|Intellectual disability, autosomal dominant 5 [RCV002030609] |
Chr6:33446630 [GRCh38]
Chr6:33414407 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.1738G>A (p.Gly580Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002006159] |
Chr6:33440790 [GRCh38]
Chr6:33408567 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1354G>T (p.Val452Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002010244] |
Chr6:33438259 [GRCh38]
Chr6:33406036 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3582+3A>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001999060] |
Chr6:33444620 [GRCh38]
Chr6:33412397 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1304T>G (p.Leu435Trp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002011451] |
Chr6:33438209 [GRCh38]
Chr6:33405986 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2144_2146del (p.Pro715del) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV002015402] |
Chr6:33441608..33441610 [GRCh38]
Chr6:33409385..33409387 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3178G>A (p.Gly1060Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002016972] |
Chr6:33443730 [GRCh38]
Chr6:33411507 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2116-3C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002045390] |
Chr6:33441578 [GRCh38]
Chr6:33409355 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.82T>C (p.Ser28Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002013316] |
Chr6:33423491 [GRCh38]
Chr6:33391268 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3394T>C (p.Ser1132Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002458633]|Intellectual disability, autosomal dominant 5 [RCV001837407] |
Chr6:33443946 [GRCh38]
Chr6:33411723 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2753C>T (p.Ala918Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001984906]|not provided [RCV003227049] |
Chr6:33443305 [GRCh38]
Chr6:33411082 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.5G>A (p.Ser2Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002608057]|Intellectual disability, autosomal dominant 5 [RCV001989034] |
Chr6:33420269 [GRCh38]
Chr6:33388046 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3183C>T (p.Gly1061=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001934398] |
Chr6:33443735 [GRCh38]
Chr6:33411512 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.3370G>A (p.Gly1124Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002458724]|Intellectual disability, autosomal dominant 5 [RCV001897784]|not provided [RCV004720962] |
Chr6:33443922 [GRCh38]
Chr6:33411699 [GRCh37]
Chr6:6p21.32 |
benign|likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.1166C>A (p.Ser389Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001953409] |
Chr6:33438071 [GRCh38]
Chr6:33405848 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1640G>A (p.Cys547Tyr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001927667] |
Chr6:33438883 [GRCh38]
Chr6:33406660 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.335G>C (p.Gly112Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001926717] |
Chr6:33432200 [GRCh38]
Chr6:33399977 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3156_3167dup (p.1053SGGG[3]) |
duplication |
Intellectual disability, autosomal dominant 5 [RCV001983730] |
Chr6:33443705..33443706 [GRCh38]
Chr6:33411482..33411483 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.48G>A (p.Met16Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001957125] |
Chr6:33420312 [GRCh38]
Chr6:33388089 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2516dup (p.Ser840fs) |
duplication |
Intellectual disability, autosomal dominant 5 [RCV001957450] |
Chr6:33443066..33443067 [GRCh38]
Chr6:33410843..33410844 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2668C>T (p.Arg890Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001987410] |
Chr6:33443220 [GRCh38]
Chr6:33410997 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.1136C>T (p.Ser379Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001907230] |
Chr6:33438041 [GRCh38]
Chr6:33405818 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.2573G>A (p.Ser858Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001882293] |
Chr6:33443125 [GRCh38]
Chr6:33410902 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3303del (p.Ala1102fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV001913005] |
Chr6:33443852 [GRCh38]
Chr6:33411629 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1136C>G (p.Ser379Trp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001912922] |
Chr6:33438041 [GRCh38]
Chr6:33405818 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1260T>G (p.Phe420Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001912654] |
Chr6:33438165 [GRCh38]
Chr6:33405942 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3380G>T (p.Gly1127Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001914420] |
Chr6:33443932 [GRCh38]
Chr6:33411709 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.407G>A (p.Arg136Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001945729] |
Chr6:33432704 [GRCh38]
Chr6:33400481 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3304G>A (p.Ala1102Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001926348] |
Chr6:33443856 [GRCh38]
Chr6:33411633 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2299A>G (p.Ile767Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001897015] |
Chr6:33442457 [GRCh38]
Chr6:33410234 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1137G>A (p.Ser379=) |
single nucleotide variant |
Inborn genetic diseases [RCV002324392]|Intellectual disability, autosomal dominant 5 [RCV001985123] |
Chr6:33438042 [GRCh38]
Chr6:33405819 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.3452_3453del (p.Ala1150_Ser1151insTer) |
microsatellite |
Intellectual disability, autosomal dominant 5 [RCV001960092] |
Chr6:33444485..33444486 [GRCh38]
Chr6:33412262..33412263 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2514C>A (p.Asn838Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001880895]|not provided [RCV003228012] |
Chr6:33443066 [GRCh38]
Chr6:33410843 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3583-18C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001909339] |
Chr6:33446557 [GRCh38]
Chr6:33414334 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2415G>T (p.Leu805=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001881592] |
Chr6:33442967 [GRCh38]
Chr6:33410744 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3572G>A (p.Arg1191Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001883524] |
Chr6:33444607 [GRCh38]
Chr6:33412384 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3176G>C (p.Gly1059Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001913972] |
Chr6:33443728 [GRCh38]
Chr6:33411505 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1712C>A (p.Ser571Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001941288] |
Chr6:33440764 [GRCh38]
Chr6:33408541 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2450C>G (p.Ser817Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001941619] |
Chr6:33443002 [GRCh38]
Chr6:33410779 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2522T>C (p.Val841Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001887316] |
Chr6:33443074 [GRCh38]
Chr6:33410851 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.819G>T (p.Glu273Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001975681] |
Chr6:33437724 [GRCh38]
Chr6:33405501 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.3238G>A (p.Ala1080Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001977478] |
Chr6:33443790 [GRCh38]
Chr6:33411567 [GRCh37]
Chr6:6p21.32 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_006772.3(SYNGAP1):c.1964T>A (p.Leu655Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001922735] |
Chr6:33441223 [GRCh38]
Chr6:33409000 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3368G>A (p.Gly1123Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001976852] |
Chr6:33443920 [GRCh38]
Chr6:33411697 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3516dup (p.Ile1173fs) |
duplication |
Intellectual disability, autosomal dominant 5 [RCV001898242] |
Chr6:33444550..33444551 [GRCh38]
Chr6:33412327..33412328 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.883_884del (p.Thr295fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV001958567] |
Chr6:33437787..33437788 [GRCh38]
Chr6:33405564..33405565 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1564del (p.Glu522fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV001978997] |
Chr6:33438806 [GRCh38]
Chr6:33406583 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3369_3380del (p.Gly1125_Gly1128del) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV001881498] |
Chr6:33443916..33443927 [GRCh38]
Chr6:33411693..33411704 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1913+2T>G |
single nucleotide variant |
not provided [RCV002049735] |
Chr6:33440967 [GRCh38]
Chr6:33408744 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.485G>A (p.Arg162His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001905432] |
Chr6:33432782 [GRCh38]
Chr6:33400559 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2867_2872dup (p.His957_His958insProHis) |
duplication |
Intellectual disability, autosomal dominant 5 [RCV001927044] |
Chr6:33443418..33443419 [GRCh38]
Chr6:33411195..33411196 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3685C>T (p.Gln1229Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001906281] |
Chr6:33446677 [GRCh38]
Chr6:33414454 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.509+1G>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001949478] |
Chr6:33432807 [GRCh38]
Chr6:33400584 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NC_000006.11:g.(?_33388042)_(33419683_?)del |
deletion |
Intellectual disability, autosomal dominant 5 [RCV001970227] |
Chr6:33388042..33419683 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.388C>T (p.Gln130Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001950965] |
Chr6:33432685 [GRCh38]
Chr6:33400462 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3582+6A>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV001913479] |
Chr6:33444623 [GRCh38]
Chr6:33412400 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.509+14A>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002208374] |
Chr6:33432820 [GRCh38]
Chr6:33400597 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2214T>G (p.Ser738Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002111815] |
Chr6:33441679 [GRCh38]
Chr6:33409456 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.627G>A (p.Val209=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002130861] |
Chr6:33435269 [GRCh38]
Chr6:33403046 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1914-18T>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002108368] |
Chr6:33441155 [GRCh38]
Chr6:33408932 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1676+14C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002145135] |
Chr6:33438933 [GRCh38]
Chr6:33406710 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1677-16C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002107510] |
Chr6:33440713 [GRCh38]
Chr6:33408490 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3871C>T (p.Leu1291=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002091499] |
Chr6:33447919 [GRCh38]
Chr6:33415696 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2295-11TC[5] |
microsatellite |
Intellectual disability, autosomal dominant 5 [RCV002092074] |
Chr6:33442441..33442442 [GRCh38]
Chr6:33410218..33410219 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1532-1G>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002249188] |
Chr6:33438774 [GRCh38]
Chr6:33406551 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.2295-17T>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002108728] |
Chr6:33442436 [GRCh38]
Chr6:33410213 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2022C>A (p.Thr674=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002209008] |
Chr6:33441281 [GRCh38]
Chr6:33409058 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.189+15_189+16delinsGC |
indel |
Intellectual disability, autosomal dominant 5 [RCV002111481] |
Chr6:33423613..33423614 [GRCh38]
Chr6:33391390..33391391 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1583delinsTG (p.Pro528fs) |
indel |
Intellectual disability, autosomal dominant 5 [RCV002074482] |
Chr6:33438826 [GRCh38]
Chr6:33406603 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.366del (p.Ala123fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV002246754] |
Chr6:33432231 [GRCh38]
Chr6:33400008 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1677-16C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002110845] |
Chr6:33440713 [GRCh38]
Chr6:33408490 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.1887C>T (p.Val629=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002190004] |
Chr6:33440939 [GRCh38]
Chr6:33408716 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1677-12C>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002111881] |
Chr6:33440717 [GRCh38]
Chr6:33408494 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.68-19G>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002185452] |
Chr6:33423458 [GRCh38]
Chr6:33391235 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.190-12del |
deletion |
Intellectual disability, autosomal dominant 5 [RCV002111188] |
Chr6:33425782 [GRCh38]
Chr6:33393559 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.537G>A (p.Glu179=) |
single nucleotide variant |
Inborn genetic diseases [RCV002346458]|Intellectual disability, autosomal dominant 5 [RCV002147406] |
Chr6:33435179 [GRCh38]
Chr6:33402956 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1671C>T (p.Ser557=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002174247] |
Chr6:33438914 [GRCh38]
Chr6:33406691 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2283G>A (p.Arg761=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002197459] |
Chr6:33441748 [GRCh38]
Chr6:33409525 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3582+11C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002093894] |
Chr6:33444628 [GRCh38]
Chr6:33412405 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.190-16C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002214992] |
Chr6:33425782 [GRCh38]
Chr6:33393559 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.296-6C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002195379] |
Chr6:33432155 [GRCh38]
Chr6:33399932 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2115+17T>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002175074] |
Chr6:33441391 [GRCh38]
Chr6:33409168 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2811T>C (p.Asp937=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002096497]|not provided [RCV003456519] |
Chr6:33443363 [GRCh38]
Chr6:33411140 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.2116-4C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002215781] |
Chr6:33441577 [GRCh38]
Chr6:33409354 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3054C>G (p.Thr1018=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002080539] |
Chr6:33443606 [GRCh38]
Chr6:33411383 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3282C>T (p.Ser1094=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002116841] |
Chr6:33443834 [GRCh38]
Chr6:33411611 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.556T>C (p.Leu186=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002133641] |
Chr6:33435198 [GRCh38]
Chr6:33402975 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2840G>C (p.Gly947Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002115515] |
Chr6:33443392 [GRCh38]
Chr6:33411169 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1977C>T (p.Ser659=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002080653] |
Chr6:33441236 [GRCh38]
Chr6:33409013 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.780A>T (p.Val260=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002197620] |
Chr6:33437685 [GRCh38]
Chr6:33405462 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1441C>T (p.His481Tyr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002170365] |
Chr6:33438473 [GRCh38]
Chr6:33406250 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.387+16C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002133761] |
Chr6:33432268 [GRCh38]
Chr6:33400045 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2466G>A (p.Thr822=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002174229] |
Chr6:33443018 [GRCh38]
Chr6:33410795 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3714G>A (p.Gln1238=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002078318] |
Chr6:33446706 [GRCh38]
Chr6:33414483 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3343_3354del (p.Ile1115_Ser1118del) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV002212131] |
Chr6:33443888..33443899 [GRCh38]
Chr6:33411665..33411676 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1386+10del |
deletion |
Intellectual disability, autosomal dominant 5 [RCV002077718] |
Chr6:33438301 [GRCh38]
Chr6:33406078 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.664-13C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002080217] |
Chr6:33435502 [GRCh38]
Chr6:33403279 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2336+19C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002092958] |
Chr6:33442513 [GRCh38]
Chr6:33410290 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1677-3del |
deletion |
Intellectual disability, autosomal dominant 5 [RCV002150629] |
Chr6:33440721 [GRCh38]
Chr6:33408498 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.1407C>T (p.Ala469=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002131056] |
Chr6:33438439 [GRCh38]
Chr6:33406216 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.387+8G>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002086459] |
Chr6:33432260 [GRCh38]
Chr6:33400037 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3343_3363del (p.Ile1115_Ser1121del) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV002192195] |
Chr6:33443888..33443908 [GRCh38]
Chr6:33411665..33411685 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3294T>C (p.Ser1098=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002165379] |
Chr6:33443846 [GRCh38]
Chr6:33411623 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2294+14G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002190865] |
Chr6:33441773 [GRCh38]
Chr6:33409550 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.78A>C (p.Gly26=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002199442] |
Chr6:33423487 [GRCh38]
Chr6:33391264 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2874CCA[4] (p.His966del) |
microsatellite |
Intellectual disability, autosomal dominant 5 [RCV002140643] |
Chr6:33443424..33443426 [GRCh38]
Chr6:33411201..33411203 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1551G>C (p.Leu517=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002123081] |
Chr6:33438794 [GRCh38]
Chr6:33406571 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.591G>A (p.Glu197=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002083667] |
Chr6:33435233 [GRCh38]
Chr6:33403010 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3794+19dup |
duplication |
Intellectual disability, autosomal dominant 5 [RCV002121778] |
Chr6:33446804..33446805 [GRCh38]
Chr6:33414581..33414582 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1095A>T (p.Val365=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002083628] |
Chr6:33438000 [GRCh38]
Chr6:33405777 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1481T>G (p.Ile494Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002249187] |
Chr6:33438513 [GRCh38]
Chr6:33406290 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NC_000006.12:g.33423588ATGAGG[3] |
microsatellite |
Intellectual disability, autosomal dominant 5 [RCV002136340] |
Chr6:33423585..33423586 [GRCh38]
Chr6:33391362..33391363 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1913+17G>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002136374] |
Chr6:33440982 [GRCh38]
Chr6:33408759 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3690C>A (p.Thr1230=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002219231] |
Chr6:33446682 [GRCh38]
Chr6:33414459 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3963A>G (p.Pro1321=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002120408] |
Chr6:33451837 [GRCh38]
Chr6:33419614 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.763-8C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002122443] |
Chr6:33437660 [GRCh38]
Chr6:33405437 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1677-12C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002220054] |
Chr6:33440717 [GRCh38]
Chr6:33408494 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1783C>T (p.Leu595=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002154057] |
Chr6:33440835 [GRCh38]
Chr6:33408612 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3795-11C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002220612] |
Chr6:33447832 [GRCh38]
Chr6:33415609 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2295-19del |
deletion |
Intellectual disability, autosomal dominant 5 [RCV002143102] |
Chr6:33442434 [GRCh38]
Chr6:33410211 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1231A>G (p.Ile411Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002164021] |
Chr6:33438136 [GRCh38]
Chr6:33405913 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2294+13G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002183890] |
Chr6:33441772 [GRCh38]
Chr6:33409549 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3055C>T (p.Arg1019Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003093864]|not provided [RCV002222838] |
Chr6:33443607 [GRCh38]
Chr6:33411384 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.3956C>G (p.Ala1319Gly) |
single nucleotide variant |
See cases [RCV002252928]|not provided [RCV004694204] |
Chr6:33451830 [GRCh38]
Chr6:33419607 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2116-8C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002138704] |
Chr6:33441573 [GRCh38]
Chr6:33409350 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.667A>T (p.Thr223Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002204801] |
Chr6:33435518 [GRCh38]
Chr6:33403295 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.2223C>T (p.Pro741=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002203070] |
Chr6:33441688 [GRCh38]
Chr6:33409465 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1594A>C (p.Thr532Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002122886] |
Chr6:33438837 [GRCh38]
Chr6:33406614 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.333A>G (p.Pro111=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002179593] |
Chr6:33432198 [GRCh38]
Chr6:33399975 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3660G>A (p.Glu1220=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002122001] |
Chr6:33446652 [GRCh38]
Chr6:33414429 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.295+9G>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002161783] |
Chr6:33425912 [GRCh38]
Chr6:33393689 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1677-15G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002217821] |
Chr6:33440714 [GRCh38]
Chr6:33408491 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.723A>G (p.Lys241=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002118962] |
Chr6:33435574 [GRCh38]
Chr6:33403351 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.763-5G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002101423] |
Chr6:33437663 [GRCh38]
Chr6:33405440 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3723G>A (p.Leu1241=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002153926] |
Chr6:33446715 [GRCh38]
Chr6:33414492 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1653G>C (p.Leu551=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002104031] |
Chr6:33438896 [GRCh38]
Chr6:33406673 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.790C>T (p.Leu264=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002081608] |
Chr6:33437695 [GRCh38]
Chr6:33405472 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3681A>G (p.Glu1227=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002081609] |
Chr6:33446673 [GRCh38]
Chr6:33414450 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1303T>C (p.Leu435=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002179424] |
Chr6:33438208 [GRCh38]
Chr6:33405985 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.67+16A>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002098834] |
Chr6:33420347 [GRCh38]
Chr6:33388124 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.388-20C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002178036] |
Chr6:33432665 [GRCh38]
Chr6:33400442 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3886-10T>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002217741] |
Chr6:33451750 [GRCh38]
Chr6:33419527 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2943C>T (p.Gly981=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002101141]|not provided [RCV003434413] |
Chr6:33443495 [GRCh38]
Chr6:33411272 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2457A>G (p.Ala819=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002199133] |
Chr6:33443009 [GRCh38]
Chr6:33410786 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2478C>T (p.Asp826=) |
single nucleotide variant |
Inborn genetic diseases [RCV002454549]|Intellectual disability, autosomal dominant 5 [RCV002159101] |
Chr6:33443030 [GRCh38]
Chr6:33410807 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1502T>C (p.Ile501Thr) |
single nucleotide variant |
not provided [RCV003109986] |
Chr6:33438534 [GRCh38]
Chr6:33406311 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1193C>T (p.Pro398Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003110608] |
Chr6:33438098 [GRCh38]
Chr6:33405875 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.719A>G (p.Asp240Gly) |
single nucleotide variant |
not provided [RCV004784807] |
Chr6:33435570 [GRCh38]
Chr6:33403347 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3384G>T (p.Gly1128=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003111829] |
Chr6:33443936 [GRCh38]
Chr6:33411713 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NC_000006.11:g.(?_30695893)_(36953949_?)dup |
duplication |
Proteasome-associated autoinflammatory syndrome 1 [RCV003113679] |
Chr6:30695893..36953949 [GRCh37]
Chr6:6p21.33-21.2 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1160dup (p.Gly388fs) |
duplication |
Intellectual disability, autosomal dominant 5 [RCV003112783] |
Chr6:33438059..33438060 [GRCh38]
Chr6:33405836..33405837 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.67+15G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003116280] |
Chr6:33420346 [GRCh38]
Chr6:33388123 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1778T>A (p.Leu593His) |
single nucleotide variant |
not provided [RCV003120502] |
Chr6:33440830 [GRCh38]
Chr6:33408607 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3583-10C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003121774] |
Chr6:33446565 [GRCh38]
Chr6:33414342 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3213del (p.Lys1072fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV003149155] |
Chr6:33443765 [GRCh38]
Chr6:33411542 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3078del (p.Asp1026fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV002246755] |
Chr6:33443630 [GRCh38]
Chr6:33411407 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3835G>A (p.Ala1279Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002227688] |
Chr6:33447883 [GRCh38]
Chr6:33415660 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2818G>A (p.Gly940Ser) |
single nucleotide variant |
See cases [RCV002252849] |
Chr6:33443370 [GRCh38]
Chr6:33411147 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3361A>G (p.Ser1121Gly) |
single nucleotide variant |
not provided [RCV003234426] |
Chr6:33443913 [GRCh38]
Chr6:33411690 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.451G>C (p.Asp151His) |
single nucleotide variant |
not provided [RCV003232975] |
Chr6:33432748 [GRCh38]
Chr6:33400525 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.102C>A (p.Tyr34Ter) |
single nucleotide variant |
not provided [RCV002265500] |
Chr6:33423511 [GRCh38]
Chr6:33391288 [GRCh37]
Chr6:6p21.32 |
pathogenic|likely pathogenic |
| NM_006772.3(SYNGAP1):c.859G>C (p.Asp287His) |
single nucleotide variant |
SYNGAP1-related developmental and epileptic encephalopathy [RCV002274303] |
Chr6:33437764 [GRCh38]
Chr6:33405541 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.1697AGG[1] (p.Glu567del) |
microsatellite |
Intellectual disability, autosomal dominant 5 [RCV003095996]|not provided [RCV002265421] |
Chr6:33440749..33440751 [GRCh38]
Chr6:33408526..33408528 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1349C>A (p.Ala450Glu) |
single nucleotide variant |
not provided [RCV002269607] |
Chr6:33438254 [GRCh38]
Chr6:33406031 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1579G>T (p.Asp527Tyr) |
single nucleotide variant |
not provided [RCV002269792] |
Chr6:33438822 [GRCh38]
Chr6:33406599 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.99del (p.Gln33fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV002272999] |
Chr6:33423507 [GRCh38]
Chr6:33391284 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3319C>T (p.Gln1107Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002271975] |
Chr6:33443871 [GRCh38]
Chr6:33411648 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.-1G>A |
single nucleotide variant |
not provided [RCV002283157] |
Chr6:33420264 [GRCh38]
Chr6:33388041 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.629_632dup (p.Ser211fs) |
duplication |
Intellectual disability, autosomal dominant 5 [RCV002288375] |
Chr6:33435270..33435271 [GRCh38]
Chr6:33403047..33403048 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.815G>A (p.Arg272Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002289203] |
Chr6:33437720 [GRCh38]
Chr6:33405497 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.763-1G>A |
single nucleotide variant |
not provided [RCV003231889] |
Chr6:33437667 [GRCh38]
Chr6:33405444 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.295+1551G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002266656] |
Chr6:33427454 [GRCh38]
Chr6:33395231 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1586T>C (p.Ile529Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002266759] |
Chr6:33438829 [GRCh38]
Chr6:33406606 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3408+1G>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002267701] |
Chr6:33443961 [GRCh38]
Chr6:33411738 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2667A>C (p.Gly889=) |
single nucleotide variant |
Inborn genetic diseases [RCV002437280] |
Chr6:33443219 [GRCh38]
Chr6:33410996 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2863T>C (p.Ser955Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002437610] |
Chr6:33443415 [GRCh38]
Chr6:33411192 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1169G>A (p.Gly390Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002297153] |
Chr6:33438074 [GRCh38]
Chr6:33405851 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3009C>G (p.Ser1003Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002435741] |
Chr6:33443561 [GRCh38]
Chr6:33411338 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1714T>G (p.Trp572Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003152862] |
Chr6:33440766 [GRCh38]
Chr6:33408543 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3061C>T (p.Gln1021Ter) |
single nucleotide variant |
not provided [RCV003129372] |
Chr6:33443613 [GRCh38]
Chr6:33411390 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1393_1395dup (p.Leu465_Ser466insLeu) |
duplication |
Intellectual disability, autosomal dominant 5 [RCV002471729] |
Chr6:33438424..33438425 [GRCh38]
Chr6:33406201..33406202 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.2294+1G>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002471725] |
Chr6:33441760 [GRCh38]
Chr6:33409537 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.123del (p.Pro42fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV002470207] |
Chr6:33423532 [GRCh38]
Chr6:33391309 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1193del (p.Pro398fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV002465459] |
Chr6:33438096 [GRCh38]
Chr6:33405873 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2143C>T (p.Pro715Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002468803] |
Chr6:33441608 [GRCh38]
Chr6:33409385 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.3314G>A (p.Arg1105Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003615917]|not provided [RCV002467363] |
Chr6:33443866 [GRCh38]
Chr6:33411643 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1466_1469del (p.Leu489fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV002468802] |
Chr6:33438496..33438499 [GRCh38]
Chr6:33406273..33406276 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.277C>G (p.Arg93Gly) |
single nucleotide variant |
not provided [RCV003231711] |
Chr6:33425885 [GRCh38]
Chr6:33393662 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1761del (p.Arg587fs) |
deletion |
Inborn genetic diseases [RCV002407611] |
Chr6:33440812 [GRCh38]
Chr6:33408589 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1153T>C (p.Ser385Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002304943] |
Chr6:33438058 [GRCh38]
Chr6:33405835 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1792C>G (p.Leu598Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002299003] |
Chr6:33440844 [GRCh38]
Chr6:33408621 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1813C>T (p.Pro605Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002305121] |
Chr6:33440865 [GRCh38]
Chr6:33408642 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1768A>G (p.Ser590Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002305349] |
Chr6:33440820 [GRCh38]
Chr6:33408597 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.1480A>G (p.Ile494Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002397131]|Intellectual disability, autosomal dominant 5 [RCV003507439] |
Chr6:33438512 [GRCh38]
Chr6:33406289 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.1089C>A (p.Tyr363Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV002428433] |
Chr6:33437994 [GRCh38]
Chr6:33405771 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1786C>T (p.Arg596Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002404157]|Intellectual disability, autosomal dominant 5 [RCV003100839] |
Chr6:33440838 [GRCh38]
Chr6:33408615 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3025G>T (p.Glu1009Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002308499] |
Chr6:33443577 [GRCh38]
Chr6:33411354 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.1771G>C (p.Ala591Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002301759] |
Chr6:33440823 [GRCh38]
Chr6:33408600 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1531G>A (p.Gly511Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002392565] |
Chr6:33438563 [GRCh38]
Chr6:33406340 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.2116G>A (p.Glu706Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002299687] |
Chr6:33441581 [GRCh38]
Chr6:33409358 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3974C>T (p.Pro1325Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002298261] |
Chr6:33451848 [GRCh38]
Chr6:33419625 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2946T>A (p.Tyr982Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV002440225] |
Chr6:33443498 [GRCh38]
Chr6:33411275 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1121C>A (p.Ser374Tyr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002299871] |
Chr6:33438026 [GRCh38]
Chr6:33405803 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2684G>A (p.Ser895Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002298420] |
Chr6:33443236 [GRCh38]
Chr6:33411013 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3511_3512delinsTG (p.Ala1171Cys) |
indel |
not provided [RCV002308757] |
Chr6:33444546..33444547 [GRCh38]
Chr6:33412323..33412324 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2632A>G (p.Thr878Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002428566] |
Chr6:33443184 [GRCh38]
Chr6:33410961 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.434_447dup (p.Leu150fs) |
duplication |
Inborn genetic diseases [RCV002332194] |
Chr6:33432729..33432730 [GRCh38]
Chr6:33400506..33400507 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3326T>C (p.Leu1109Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002326433]|Intellectual disability, autosomal dominant 5 [RCV003775589] |
Chr6:33443878 [GRCh38]
Chr6:33411655 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.3254G>A (p.Arg1085Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002445630] |
Chr6:33443806 [GRCh38]
Chr6:33411583 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.872A>G (p.Tyr291Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002302246] |
Chr6:33437777 [GRCh38]
Chr6:33405554 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1390T>G (p.Phe464Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002295911] |
Chr6:33438422 [GRCh38]
Chr6:33406199 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2485G>A (p.Glu829Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002294934] |
Chr6:33443037 [GRCh38]
Chr6:33410814 [GRCh37]
Chr6:6p21.32 |
pathogenic|uncertain significance |
| NM_006772.3(SYNGAP1):c.1386+1G>A |
single nucleotide variant |
Inborn genetic diseases [RCV002396520] |
Chr6:33438292 [GRCh38]
Chr6:33406069 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.1027G>A (p.Val343Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002298029]|not provided [RCV004729155] |
Chr6:33437932 [GRCh38]
Chr6:33405709 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3824G>A (p.Arg1275Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002297988] |
Chr6:33447872 [GRCh38]
Chr6:33415649 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3907G>A (p.Gly1303Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002357490] |
Chr6:33451781 [GRCh38]
Chr6:33419558 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3328A>G (p.Ser1110Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002295231] |
Chr6:33443880 [GRCh38]
Chr6:33411657 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.2989G>A (p.Ala997Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002295108] |
Chr6:33443541 [GRCh38]
Chr6:33411318 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1057_1072del (p.Leu353fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV003013785] |
Chr6:33437962..33437977 [GRCh38]
Chr6:33405739..33405754 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.44C>T (p.Ala15Val) |
single nucleotide variant |
not provided [RCV002462771] |
Chr6:33420308 [GRCh38]
Chr6:33388085 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3103C>A (p.Pro1035Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002815434] |
Chr6:33443655 [GRCh38]
Chr6:33411432 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1658A>C (p.Lys553Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002842099] |
Chr6:33438901 [GRCh38]
Chr6:33406678 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.711C>T (p.Ala237=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003075288] |
Chr6:33435562 [GRCh38]
Chr6:33403339 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1195G>A (p.Ala399Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002771401] |
Chr6:33438100 [GRCh38]
Chr6:33405877 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.2350_2354dup (p.Pro787fs) |
duplication |
Intellectual disability, autosomal dominant 5 [RCV002967893] |
Chr6:33442900..33442901 [GRCh38]
Chr6:33410677..33410678 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2591_2592del (p.Ala864fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV003014481] |
Chr6:33443142..33443143 [GRCh38]
Chr6:33410919..33410920 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.273G>A (p.Glu91=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003014902] |
Chr6:33425881 [GRCh38]
Chr6:33393658 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3726G>A (p.Glu1242=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003034668] |
Chr6:33446718 [GRCh38]
Chr6:33414495 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1453C>T (p.Arg485Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003016714]|SYNGAP1-related disorder [RCV004550349] |
Chr6:33438485 [GRCh38]
Chr6:33406262 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.276del (p.Arg93fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV002858538] |
Chr6:33425881 [GRCh38]
Chr6:33393658 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3484C>T (p.Pro1162Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002864200] |
Chr6:33444519 [GRCh38]
Chr6:33412296 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3351C>T (p.Gly1117=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002751122] |
Chr6:33443903 [GRCh38]
Chr6:33411680 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3738G>A (p.Lys1246=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002908417] |
Chr6:33446730 [GRCh38]
Chr6:33414507 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.36C>G (p.Ser12Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002726267] |
Chr6:33420300 [GRCh38]
Chr6:33388077 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1706T>C (p.Phe569Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV004763428]|not provided [RCV002511466] |
Chr6:33440758 [GRCh38]
Chr6:33408535 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.1676+7C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002819233] |
Chr6:33438926 [GRCh38]
Chr6:33406703 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2337-20G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002995790] |
Chr6:33442869 [GRCh38]
Chr6:33410646 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3180T>G (p.Gly1060=) |
single nucleotide variant |
not provided [RCV002512303] |
Chr6:33443732 [GRCh38]
Chr6:33411509 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1678G>A (p.Val560Met) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002685985]|not provided [RCV003111589] |
Chr6:33440730 [GRCh38]
Chr6:33408507 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2354dup (p.Leu786fs) |
duplication |
Inborn genetic diseases [RCV002772436] |
Chr6:33442905..33442906 [GRCh38]
Chr6:33410682..33410683 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3026A>C (p.Glu1009Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002729152] |
Chr6:33443578 [GRCh38]
Chr6:33411355 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3244C>T (p.Gln1082Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002881417] |
Chr6:33443796 [GRCh38]
Chr6:33411573 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1490A>G (p.Tyr497Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002681627] |
Chr6:33438522 [GRCh38]
Chr6:33406299 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.227C>G (p.Ser76Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002686032] |
Chr6:33425835 [GRCh38]
Chr6:33393612 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.775C>T (p.Arg259Trp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002861563] |
Chr6:33437680 [GRCh38]
Chr6:33405457 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1966G>C (p.Glu656Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002817738] |
Chr6:33441225 [GRCh38]
Chr6:33409002 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3794+7G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003014955] |
Chr6:33446793 [GRCh38]
Chr6:33414570 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.296-17C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002971129] |
Chr6:33432144 [GRCh38]
Chr6:33399921 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2647C>T (p.Leu883=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003033792] |
Chr6:33443199 [GRCh38]
Chr6:33410976 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2882_2899dup (p.His966_Arg967insHisHisHisHisHisHis) |
duplication |
Intellectual disability, autosomal dominant 5 [RCV002880751] |
Chr6:33443419..33443420 [GRCh38]
Chr6:33411196..33411197 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1441_1444dup (p.Leu482fs) |
duplication |
Intellectual disability, autosomal dominant 5 [RCV002880865] |
Chr6:33438472..33438473 [GRCh38]
Chr6:33406249..33406250 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.43G>A (p.Ala15Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002618403] |
Chr6:33420307 [GRCh38]
Chr6:33388084 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2855G>T (p.Gly952Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002947257] |
Chr6:33443407 [GRCh38]
Chr6:33411184 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1440G>A (p.Glu480=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003075899] |
Chr6:33438472 [GRCh38]
Chr6:33406249 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3184G>A (p.Gly1062Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004071941]|Intellectual disability, autosomal dominant 5 [RCV003076240] |
Chr6:33443736 [GRCh38]
Chr6:33411513 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3434A>G (p.Asn1145Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003076319] |
Chr6:33444469 [GRCh38]
Chr6:33412246 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1267del (p.Tyr423fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV003033794] |
Chr6:33438172 [GRCh38]
Chr6:33405949 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3931C>T (p.Leu1311=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002756275] |
Chr6:33451805 [GRCh38]
Chr6:33419582 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3348G>A (p.Gly1116=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003037736] |
Chr6:33443900 [GRCh38]
Chr6:33411677 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1466T>C (p.Leu489Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002824371]|not provided [RCV004725386] |
Chr6:33438498 [GRCh38]
Chr6:33406275 [GRCh37]
Chr6:6p21.32 |
likely pathogenic|uncertain significance |
| NM_006772.3(SYNGAP1):c.2955_2958del (p.Ser985fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV002796170] |
Chr6:33443504..33443507 [GRCh38]
Chr6:33411281..33411284 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2200C>T (p.Pro734Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002844594]|Intellectual disability, autosomal dominant 5 [RCV003777822] |
Chr6:33441665 [GRCh38]
Chr6:33409442 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2651G>A (p.Arg884Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002785722] |
Chr6:33443203 [GRCh38]
Chr6:33410980 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.200del (p.Leu67fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV002871105] |
Chr6:33425808 [GRCh38]
Chr6:33393585 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.690C>T (p.Cys230=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002914263] |
Chr6:33435541 [GRCh38]
Chr6:33403318 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3802C>T (p.Leu1268=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002889394] |
Chr6:33447850 [GRCh38]
Chr6:33415627 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.962G>A (p.Arg321His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002658547] |
Chr6:33437867 [GRCh38]
Chr6:33405644 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1887C>A (p.Val629=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002871474] |
Chr6:33440939 [GRCh38]
Chr6:33408716 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1729G>A (p.Ala577Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002637461] |
Chr6:33440781 [GRCh38]
Chr6:33408558 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.169C>T (p.Leu57Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002736096]|not provided [RCV003443076] |
Chr6:33423578 [GRCh38]
Chr6:33391355 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.438_448dup (p.Leu150fs) |
duplication |
Intellectual disability, autosomal dominant 5 [RCV003036208] |
Chr6:33432733..33432734 [GRCh38]
Chr6:33400510..33400511 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1025A>C (p.Tyr342Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002923545] |
Chr6:33437930 [GRCh38]
Chr6:33405707 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3949G>A (p.Gly1317Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003038035]|not provided [RCV003886594] |
Chr6:33451823 [GRCh38]
Chr6:33419600 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.1485A>C (p.Glu495Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002797340]|not provided [RCV004725387] |
Chr6:33438517 [GRCh38]
Chr6:33406294 [GRCh37]
Chr6:6p21.32 |
likely pathogenic|uncertain significance |
| NM_006772.3(SYNGAP1):c.1257G>A (p.Glu419=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002823781] |
Chr6:33438162 [GRCh38]
Chr6:33405939 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.765C>T (p.Asp255=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002886632] |
Chr6:33437670 [GRCh38]
Chr6:33405447 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.828C>T (p.Pro276=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002885215] |
Chr6:33437733 [GRCh38]
Chr6:33405510 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1803G>T (p.Ala601=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002846152] |
Chr6:33440855 [GRCh38]
Chr6:33408632 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1004G>A (p.Arg335His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002820975] |
Chr6:33437909 [GRCh38]
Chr6:33405686 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.660T>C (p.Phe220=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002867943] |
Chr6:33435302 [GRCh38]
Chr6:33403079 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2735C>A (p.Thr912Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002949911] |
Chr6:33443287 [GRCh38]
Chr6:33411064 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.223G>T (p.Glu75Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002885306] |
Chr6:33425831 [GRCh38]
Chr6:33393608 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2219G>A (p.Arg740Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002756944] |
Chr6:33441684 [GRCh38]
Chr6:33409461 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.189+8_189+9del |
microsatellite |
Intellectual disability, autosomal dominant 5 [RCV002760420] |
Chr6:33423603..33423604 [GRCh38]
Chr6:33391380..33391381 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2924C>T (p.Thr975Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002796632] |
Chr6:33443476 [GRCh38]
Chr6:33411253 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3377G>A (p.Gly1126Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002823699] |
Chr6:33443929 [GRCh38]
Chr6:33411706 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.431C>T (p.Thr144Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002692675]|not provided [RCV004775315] |
Chr6:33432728 [GRCh38]
Chr6:33400505 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3996G>T (p.Thr1332=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002706498] |
Chr6:33451870 [GRCh38]
Chr6:33419647 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2295-19T>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003037754] |
Chr6:33442434 [GRCh38]
Chr6:33410211 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1914-14G>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002912824] |
Chr6:33441159 [GRCh38]
Chr6:33408936 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.92G>A (p.Arg31Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002736704] |
Chr6:33423501 [GRCh38]
Chr6:33391278 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.315G>C (p.Ser105=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002912852] |
Chr6:33432180 [GRCh38]
Chr6:33399957 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3161G>A (p.Gly1054Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003035376] |
Chr6:33443713 [GRCh38]
Chr6:33411490 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3159C>T (p.Ser1053=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002998704] |
Chr6:33443711 [GRCh38]
Chr6:33411488 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.859G>T (p.Asp287Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002798280] |
Chr6:33437764 [GRCh38]
Chr6:33405541 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.1725C>T (p.Arg575=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002824652] |
Chr6:33440777 [GRCh38]
Chr6:33408554 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2239G>C (p.Val747Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002756961] |
Chr6:33441704 [GRCh38]
Chr6:33409481 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3265_3274dup (p.Leu1092fs) |
duplication |
Intellectual disability, autosomal dominant 5 [RCV002847140] |
Chr6:33443816..33443817 [GRCh38]
Chr6:33411593..33411594 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2420A>G (p.Tyr807Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003054844] |
Chr6:33442972 [GRCh38]
Chr6:33410749 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2736C>G (p.Thr912=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002976716] |
Chr6:33443288 [GRCh38]
Chr6:33411065 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1256A>G (p.Glu419Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002820575] |
Chr6:33438161 [GRCh38]
Chr6:33405938 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3795-10G>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003021513] |
Chr6:33447833 [GRCh38]
Chr6:33415610 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3864G>A (p.Lys1288=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003021416] |
Chr6:33447912 [GRCh38]
Chr6:33415689 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3535A>T (p.Lys1179Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003055213] |
Chr6:33444570 [GRCh38]
Chr6:33412347 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1787G>A (p.Arg596His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002795686] |
Chr6:33440839 [GRCh38]
Chr6:33408616 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2255C>T (p.Ser752Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003053213] |
Chr6:33441720 [GRCh38]
Chr6:33409497 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.388-2del |
deletion |
Intellectual disability, autosomal dominant 5 [RCV002894349] |
Chr6:33432683 [GRCh38]
Chr6:33400460 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2518A>T (p.Ser840Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003005697] |
Chr6:33443070 [GRCh38]
Chr6:33410847 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2294+5G>T |
single nucleotide variant |
Inborn genetic diseases [RCV002854661]|Intellectual disability, autosomal dominant 5 [RCV003615923]|SYNGAP1-related developmental and epileptic encephalopathy [RCV003458905] |
Chr6:33441764 [GRCh38]
Chr6:33409541 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.897C>T (p.Arg299=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003043550] |
Chr6:33437802 [GRCh38]
Chr6:33405579 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3923G>A (p.Arg1308His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002801912] |
Chr6:33451797 [GRCh38]
Chr6:33419574 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3902C>G (p.Pro1301Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003008286] |
Chr6:33451776 [GRCh38]
Chr6:33419553 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.663+10C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002958548]|SYNGAP1-related disorder [RCV004548430] |
Chr6:33435315 [GRCh38]
Chr6:33403092 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.812C>A (p.Ala271Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002852037] |
Chr6:33437717 [GRCh38]
Chr6:33405494 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.821T>A (p.Leu274Gln) |
single nucleotide variant |
Global developmental delay [RCV002508987] |
Chr6:33437726 [GRCh38]
Chr6:33405503 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2729G>C (p.Gly910Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003007908] |
Chr6:33443281 [GRCh38]
Chr6:33411058 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3404_3407del (p.Lys1135fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV002852775] |
Chr6:33443954..33443957 [GRCh38]
Chr6:33411731..33411734 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2145C>G (p.Pro715=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003042243] |
Chr6:33441610 [GRCh38]
Chr6:33409387 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.470G>A (p.Arg157His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002929014] |
Chr6:33432767 [GRCh38]
Chr6:33400544 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2388A>T (p.Pro796=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003006025] |
Chr6:33442940 [GRCh38]
Chr6:33410717 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.416G>A (p.Ser139Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002828957] |
Chr6:33432713 [GRCh38]
Chr6:33400490 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.106C>T (p.His36Tyr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003005649] |
Chr6:33423515 [GRCh38]
Chr6:33391292 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2385C>T (p.Pro795=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003005951] |
Chr6:33442937 [GRCh38]
Chr6:33410714 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2835T>A (p.His945Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003082438]|not specified [RCV003404079] |
Chr6:33443387 [GRCh38]
Chr6:33411164 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.2548G>A (p.Gly850Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002917497] |
Chr6:33443100 [GRCh38]
Chr6:33410877 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1941C>T (p.Gly647=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002805368] |
Chr6:33441200 [GRCh38]
Chr6:33408977 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.187G>C (p.Glu63Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003056010] |
Chr6:33423596 [GRCh38]
Chr6:33391373 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3756G>A (p.Gln1252=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002573942] |
Chr6:33446748 [GRCh38]
Chr6:33414525 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2394G>T (p.Pro798=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003040237] |
Chr6:33442946 [GRCh38]
Chr6:33410723 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3966C>T (p.Ala1322=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002595019] |
Chr6:33451840 [GRCh38]
Chr6:33419617 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2160C>T (p.Asp720=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003042233] |
Chr6:33441625 [GRCh38]
Chr6:33409402 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2291A>G (p.Asn764Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002667750] |
Chr6:33441756 [GRCh38]
Chr6:33409533 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.819G>A (p.Glu273=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003057617] |
Chr6:33437724 [GRCh38]
Chr6:33405501 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2354G>A (p.Arg785His) |
single nucleotide variant |
Inborn genetic diseases [RCV002893755]|Intellectual disability, autosomal dominant 5 [RCV003615924] |
Chr6:33442906 [GRCh38]
Chr6:33410683 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2769C>A (p.Ile923=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002714883] |
Chr6:33443321 [GRCh38]
Chr6:33411098 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.597C>A (p.Asn199Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002939150] |
Chr6:33435239 [GRCh38]
Chr6:33403016 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2657C>T (p.Ala886Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003092128] |
Chr6:33443209 [GRCh38]
Chr6:33410986 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.917T>A (p.Val306Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003063959] |
Chr6:33437822 [GRCh38]
Chr6:33405599 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.664-14_664-11del |
deletion |
Intellectual disability, autosomal dominant 5 [RCV002810970] |
Chr6:33435500..33435503 [GRCh38]
Chr6:33403277..33403280 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2015C>A (p.Thr672Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003030241] |
Chr6:33441274 [GRCh38]
Chr6:33409051 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3583-12C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002601347] |
Chr6:33446563 [GRCh38]
Chr6:33414340 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1680G>A (p.Val560=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003026398] |
Chr6:33440732 [GRCh38]
Chr6:33408509 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2667del (p.Arg890fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV003027322] |
Chr6:33443219 [GRCh38]
Chr6:33410996 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2583G>C (p.Ser861=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002834710] |
Chr6:33443135 [GRCh38]
Chr6:33410912 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.360T>G (p.Gly120=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003009709] |
Chr6:33432225 [GRCh38]
Chr6:33400002 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3409-7G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003028844] |
Chr6:33444437 [GRCh38]
Chr6:33412214 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2763G>T (p.Leu921=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002959158] |
Chr6:33443315 [GRCh38]
Chr6:33411092 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.478C>T (p.Leu160=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003027257] |
Chr6:33432775 [GRCh38]
Chr6:33400552 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3511G>A (p.Ala1171Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002577884] |
Chr6:33444546 [GRCh38]
Chr6:33412323 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3100C>G (p.Pro1034Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002576760] |
Chr6:33443652 [GRCh38]
Chr6:33411429 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.4008G>A (p.Glu1336=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003011571] |
Chr6:33451882 [GRCh38]
Chr6:33419659 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2178_2179delinsTT (p.Arg726_Asn727delinsSerTyr) |
indel |
Intellectual disability, autosomal dominant 5 [RCV002856707] |
Chr6:33441643..33441644 [GRCh38]
Chr6:33409420..33409421 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.865A>G (p.Met289Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003047028] |
Chr6:33437770 [GRCh38]
Chr6:33405547 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.68-3C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002811113] |
Chr6:33423474 [GRCh38]
Chr6:33391251 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3920C>T (p.Pro1307Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002806165] |
Chr6:33451794 [GRCh38]
Chr6:33419571 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2909A>G (p.Glu970Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002834846] |
Chr6:33443461 [GRCh38]
Chr6:33411238 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.604del (p.Glu202fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV003043892] |
Chr6:33435246 [GRCh38]
Chr6:33403023 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2787C>T (p.Asn929=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003031604] |
Chr6:33443339 [GRCh38]
Chr6:33411116 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3290C>T (p.Pro1097Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002938925] |
Chr6:33443842 [GRCh38]
Chr6:33411619 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.1218C>T (p.Tyr406=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002580915] |
Chr6:33438123 [GRCh38]
Chr6:33405900 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.663+4C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002811757] |
Chr6:33435309 [GRCh38]
Chr6:33403086 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1676+15G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002576768] |
Chr6:33438934 [GRCh38]
Chr6:33406711 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.664-4C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002810971] |
Chr6:33435511 [GRCh38]
Chr6:33403288 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3996G>A (p.Thr1332=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003063119]|not provided [RCV004721108] |
Chr6:33451870 [GRCh38]
Chr6:33419647 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.664-12A>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002833910] |
Chr6:33435503 [GRCh38]
Chr6:33403280 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3929C>T (p.Thr1310Met) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003087574] |
Chr6:33451803 [GRCh38]
Chr6:33419580 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.2954G>A (p.Ser985Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003009786] |
Chr6:33443506 [GRCh38]
Chr6:33411283 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.189+18G>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002720783] |
Chr6:33423616 [GRCh38]
Chr6:33391393 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1677-11C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003046877] |
Chr6:33440718 [GRCh38]
Chr6:33408495 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2245C>T (p.Arg749Trp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002814909] |
Chr6:33441710 [GRCh38]
Chr6:33409487 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.304T>G (p.Leu102Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002604856] |
Chr6:33432169 [GRCh38]
Chr6:33399946 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1142G>T (p.Gly381Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002658262] |
Chr6:33438047 [GRCh38]
Chr6:33405824 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3505G>T (p.Glu1169Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003093781] |
Chr6:33444540 [GRCh38]
Chr6:33412317 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.986G>A (p.Arg329His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002944305] |
Chr6:33437891 [GRCh38]
Chr6:33405668 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.53A>G (p.Tyr18Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002721885] |
Chr6:33420317 [GRCh38]
Chr6:33388094 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3405G>A (p.Lys1135=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002583923] |
Chr6:33443957 [GRCh38]
Chr6:33411734 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2014A>G (p.Thr672Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003069270] |
Chr6:33441273 [GRCh38]
Chr6:33409050 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.1719G>C (p.Arg573=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002603335] |
Chr6:33440771 [GRCh38]
Chr6:33408548 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2121C>T (p.Ala707=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002653537] |
Chr6:33441586 [GRCh38]
Chr6:33409363 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2818G>C (p.Gly940Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002604805] |
Chr6:33443370 [GRCh38]
Chr6:33411147 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.478del (p.Leu160fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV003049945] |
Chr6:33432774 [GRCh38]
Chr6:33400551 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3520G>A (p.Glu1174Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002583738] |
Chr6:33444555 [GRCh38]
Chr6:33412332 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3408+3A>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002603625] |
Chr6:33443963 [GRCh38]
Chr6:33411740 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.2226G>T (p.Arg742=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003072395] |
Chr6:33441691 [GRCh38]
Chr6:33409468 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.196C>T (p.Pro66Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002612891] |
Chr6:33425804 [GRCh38]
Chr6:33393581 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.1743G>A (p.Arg581=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002607287] |
Chr6:33440795 [GRCh38]
Chr6:33408572 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3655T>C (p.Tyr1219His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002582953] |
Chr6:33446647 [GRCh38]
Chr6:33414424 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1532-20C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003067106] |
Chr6:33438755 [GRCh38]
Chr6:33406532 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2295-20C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002583255] |
Chr6:33442433 [GRCh38]
Chr6:33410210 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1532-12C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003068892] |
Chr6:33438763 [GRCh38]
Chr6:33406540 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.198C>A (p.Pro66=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV002612530] |
Chr6:33425806 [GRCh38]
Chr6:33393583 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.388-4C>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003052181] |
Chr6:33432681 [GRCh38]
Chr6:33400458 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3002T>C (p.Leu1001Pro) |
single nucleotide variant |
not specified [RCV003155645] |
Chr6:33443554 [GRCh38]
Chr6:33411331 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NC_000006.11:g.(?_32148920)_(36953949_?)dup |
duplication |
not provided [RCV003154914] |
Chr6:32148920..36953949 [GRCh37]
Chr6:6p21.32-21.2 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2339C>G (p.Ser780Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004362884]|SYNGAP1-related disorder [RCV004552547]|not specified [RCV004783060] |
Chr6:33442891 [GRCh38]
Chr6:33410668 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3370G>T (p.Gly1124Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV004796437] |
Chr6:33443922 [GRCh38]
Chr6:33411699 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.14_27dup (p.Arg10fs) |
duplication |
not provided [RCV003223217] |
Chr6:33420277..33420278 [GRCh38]
Chr6:33388054..33388055 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2982del (p.Lys994fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV003224999] |
Chr6:33443534 [GRCh38]
Chr6:33411311 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.3344_3352del (p.Ile1115_Gly1117del) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV003615942]|not provided [RCV003228369] |
Chr6:33443893..33443901 [GRCh38]
Chr6:33411670..33411678 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.791T>A (p.Leu264Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003140826] |
Chr6:33437696 [GRCh38]
Chr6:33405473 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.314C>T (p.Ser105Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003140827] |
Chr6:33432179 [GRCh38]
Chr6:33399956 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.453C>A (p.Asp151Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003140828] |
Chr6:33432750 [GRCh38]
Chr6:33400527 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2594_2602del (p.Ala865_Gly867del) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV003140829] |
Chr6:33443144..33443152 [GRCh38]
Chr6:33410921..33410929 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.67+3A>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003140830] |
Chr6:33420334 [GRCh38]
Chr6:33388111 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1914-1G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003142488] |
Chr6:33441172 [GRCh38]
Chr6:33408949 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.1306G>A (p.Glu436Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003140503] |
Chr6:33438211 [GRCh38]
Chr6:33405988 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.388-2A>C |
single nucleotide variant |
not provided [RCV003159512] |
Chr6:33432683 [GRCh38]
Chr6:33400460 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3168C>A (p.Gly1056=) |
single nucleotide variant |
not provided [RCV003223218] |
Chr6:33443720 [GRCh38]
Chr6:33411497 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.877C>T (p.Arg293Cys) |
single nucleotide variant |
not provided [RCV003225523] |
Chr6:33437782 [GRCh38]
Chr6:33405559 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3154G>A (p.Gly1052Arg) |
single nucleotide variant |
not provided [RCV003318926] |
Chr6:33443706 [GRCh38]
Chr6:33411483 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.961C>T (p.Arg321Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003330253] |
Chr6:33437866 [GRCh38]
Chr6:33405643 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2210A>C (p.Gln737Pro) |
single nucleotide variant |
not provided [RCV003329766] |
Chr6:33441675 [GRCh38]
Chr6:33409452 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3287A>C (p.Glu1096Ala) |
single nucleotide variant |
not provided [RCV003328864] |
Chr6:33443839 [GRCh38]
Chr6:33411616 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2086C>G (p.Leu696Val) |
single nucleotide variant |
not provided [RCV003327167] |
Chr6:33441345 [GRCh38]
Chr6:33409122 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3251C>A (p.Pro1084His) |
single nucleotide variant |
not provided [RCV003329845] |
Chr6:33443803 [GRCh38]
Chr6:33411580 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1851G>T (p.Glu617Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003340816] |
Chr6:33440903 [GRCh38]
Chr6:33408680 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2186A>G (p.Asn729Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003338113] |
Chr6:33441651 [GRCh38]
Chr6:33409428 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1161T>G (p.Gly387=) |
single nucleotide variant |
not provided [RCV003334280] |
Chr6:33438066 [GRCh38]
Chr6:33405843 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.74G>A (p.Arg25Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003341503] |
Chr6:33423483 [GRCh38]
Chr6:33391260 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2741A>T (p.Asp914Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003334089] |
Chr6:33443293 [GRCh38]
Chr6:33411070 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.767A>G (p.Asn256Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003335800] |
Chr6:33437672 [GRCh38]
Chr6:33405449 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.1635G>A (p.Met545Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003343312] |
Chr6:33438878 [GRCh38]
Chr6:33406655 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2961C>T (p.Asp987=) |
single nucleotide variant |
not specified [RCV003331898] |
Chr6:33443513 [GRCh38]
Chr6:33411290 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2224C>T (p.Arg742Trp) |
single nucleotide variant |
not provided [RCV003332594] |
Chr6:33441689 [GRCh38]
Chr6:33409466 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3705G>A (p.Met1235Ile) |
single nucleotide variant |
not provided [RCV003457465] |
Chr6:33446697 [GRCh38]
Chr6:33414474 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2050G>C (p.Asp684His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003455868] |
Chr6:33441309 [GRCh38]
Chr6:33409086 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.892C>T (p.Pro298Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003825740] |
Chr6:33437797 [GRCh38]
Chr6:33405574 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.3528A>G (p.Glu1176=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003873594] |
Chr6:33444563 [GRCh38]
Chr6:33412340 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.4020C>T (p.Thr1340=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003872857] |
Chr6:33451894 [GRCh38]
Chr6:33419671 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1214G>C (p.Arg405Pro) |
single nucleotide variant |
not provided [RCV003443454] |
Chr6:33438119 [GRCh38]
Chr6:33405896 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3711T>A (p.Tyr1237Ter) |
single nucleotide variant |
SYNGAP1-related developmental and epileptic encephalopathy [RCV003484991] |
Chr6:33446703 [GRCh38]
Chr6:33414480 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.1554_1555delinsA (p.Tyr518_Glu519delinsTer) |
indel |
SYNGAP1-related developmental and epileptic encephalopathy [RCV003484996] |
Chr6:33438797..33438798 [GRCh38]
Chr6:33406574..33406575 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1339G>C (p.Val447Leu) |
single nucleotide variant |
SYNGAP1-related disorder [RCV004552418] |
Chr6:33438244 [GRCh38]
Chr6:33406021 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1855A>T (p.Thr619Ser) |
single nucleotide variant |
SYNGAP1-related disorder [RCV004552584] |
Chr6:33440907 [GRCh38]
Chr6:33408684 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2336+7G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003507513]|not specified [RCV003479830] |
Chr6:33442501 [GRCh38]
Chr6:33410278 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.1559C>T (p.Ser520Phe) |
single nucleotide variant |
not specified [RCV003479831] |
Chr6:33438802 [GRCh38]
Chr6:33406579 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3963_3964del (p.Ala1322fs) |
deletion |
not provided [RCV003428831] |
Chr6:33451837..33451838 [GRCh38]
Chr6:33419614..33419615 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3125A>G (p.Gln1042Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003778473]|not provided [RCV003441370] |
Chr6:33443677 [GRCh38]
Chr6:33411454 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.404G>A (p.Arg135Gln) |
single nucleotide variant |
SYNGAP1-related disorder [RCV004550795] |
Chr6:33432701 [GRCh38]
Chr6:33400478 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.263T>C (p.Val88Ala) |
single nucleotide variant |
not provided [RCV003428828] |
Chr6:33425871 [GRCh38]
Chr6:33393648 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3968_3969insCCCCC (p.Pro1325fs) |
insertion |
not provided [RCV003431811] |
Chr6:33451838..33451839 [GRCh38]
Chr6:33419615..33419616 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2446del (p.Ser816fs) |
deletion |
SYNGAP1-related disorder [RCV004550610] |
Chr6:33442997 [GRCh38]
Chr6:33410774 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.391G>C (p.Gly131Arg) |
single nucleotide variant |
not provided [RCV003443497] |
Chr6:33432688 [GRCh38]
Chr6:33400465 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3354C>A (p.Ser1118Arg) |
single nucleotide variant |
not provided [RCV003428830] |
Chr6:33443906 [GRCh38]
Chr6:33411683 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.927C>T (p.Gly309=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003507509]|SYNGAP1-related disorder [RCV004552624] |
Chr6:33437832 [GRCh38]
Chr6:33405609 [GRCh37]
Chr6:6p21.32 |
benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.958G>A (p.Val320Ile) |
single nucleotide variant |
not specified [RCV003405078] |
Chr6:33437863 [GRCh38]
Chr6:33405640 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1194G>A (p.Pro398=) |
single nucleotide variant |
not provided [RCV003428829] |
Chr6:33438099 [GRCh38]
Chr6:33405876 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.457del (p.Thr153fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV003445417] |
Chr6:33432754 [GRCh38]
Chr6:33400531 [GRCh37]
Chr6:6p21.32 |
not provided |
| NM_006772.3(SYNGAP1):c.3754C>T (p.Gln1252Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003405049] |
Chr6:33446746 [GRCh38]
Chr6:33414523 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.680dup (p.Thr228fs) |
duplication |
SYNGAP1-related disorder [RCV004550787] |
Chr6:33435529..33435530 [GRCh38]
Chr6:33403306..33403307 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.2852_2857del (p.His951_Gly952del) |
deletion |
not provided [RCV003431810] |
Chr6:33443399..33443404 [GRCh38]
Chr6:33411176..33411181 [GRCh37]
Chr6:6p21.32 |
likely benign|uncertain significance |
| NM_006772.3(SYNGAP1):c.1763T>C (p.Leu588Pro) |
single nucleotide variant |
not provided [RCV003442581] |
Chr6:33440815 [GRCh38]
Chr6:33408592 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1047A>G (p.Pro349=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003508396] |
Chr6:33437952 [GRCh38]
Chr6:33405729 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3962dup (p.Ala1322fs) |
duplication |
Intellectual disability, autosomal dominant 5 [RCV003486296] |
Chr6:33451829..33451830 [GRCh38]
Chr6:33419606..33419607 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3450C>T (p.Ala1150=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003507093] |
Chr6:33444485 [GRCh38]
Chr6:33412262 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1784T>A (p.Leu595Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003507111] |
Chr6:33440836 [GRCh38]
Chr6:33408613 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.910G>A (p.Asp304Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003507143] |
Chr6:33437815 [GRCh38]
Chr6:33405592 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3053C>T (p.Thr1018Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003507147] |
Chr6:33443605 [GRCh38]
Chr6:33411382 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1387-8G>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003508745] |
Chr6:33438411 [GRCh38]
Chr6:33406188 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3209_3210delinsCA (p.Arg1070Thr) |
indel |
Intellectual disability, autosomal dominant 5 [RCV003507202] |
Chr6:33443761..33443762 [GRCh38]
Chr6:33411538..33411539 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3793A>C (p.Arg1265=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003881848] |
Chr6:33446785 [GRCh38]
Chr6:33414562 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.117T>G (p.Tyr39Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003508259] |
Chr6:33423526 [GRCh38]
Chr6:33391303 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1631G>A (p.Arg544Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003507625] |
Chr6:33438874 [GRCh38]
Chr6:33406651 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3582+11C>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003507686] |
Chr6:33444628 [GRCh38]
Chr6:33412405 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3262A>G (p.Ser1088Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003506815] |
Chr6:33443814 [GRCh38]
Chr6:33411591 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2184C>A (p.Pro728=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003507727] |
Chr6:33441649 [GRCh38]
Chr6:33409426 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.388-18T>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003508521] |
Chr6:33432667 [GRCh38]
Chr6:33400444 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3223C>A (p.Gln1075Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003507742] |
Chr6:33443775 [GRCh38]
Chr6:33411552 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3424T>C (p.Ser1142Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003506924] |
Chr6:33444459 [GRCh38]
Chr6:33412236 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2703_2715del (p.Ala902fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV003507825] |
Chr6:33443253..33443265 [GRCh38]
Chr6:33411030..33411042 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2040G>A (p.Glu680=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003508611] |
Chr6:33441299 [GRCh38]
Chr6:33409076 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3980C>T (p.Pro1327Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003829508] |
Chr6:33451854 [GRCh38]
Chr6:33419631 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.190-12C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003507862] |
Chr6:33425786 [GRCh38]
Chr6:33393563 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.388-13A>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003507874] |
Chr6:33432672 [GRCh38]
Chr6:33400449 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2503C>A (p.Leu835Met) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003508750] |
Chr6:33443055 [GRCh38]
Chr6:33410832 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3323G>T (p.Ser1108Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003508203] |
Chr6:33443875 [GRCh38]
Chr6:33411652 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2521G>A (p.Val841Met) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003829128] |
Chr6:33443073 [GRCh38]
Chr6:33410850 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.195C>T (p.His65=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003508138] |
Chr6:33425803 [GRCh38]
Chr6:33393580 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1913A>G (p.Lys638Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003506868] |
Chr6:33440965 [GRCh38]
Chr6:33408742 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3363_3371del (p.Ser1121_Gly1124delinsArg) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV003507884] |
Chr6:33443914..33443922 [GRCh38]
Chr6:33411691..33411699 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3555A>G (p.Lys1185=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003506905] |
Chr6:33444590 [GRCh38]
Chr6:33412367 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1221G>T (p.Gln407His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003507966] |
Chr6:33438126 [GRCh38]
Chr6:33405903 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.929A>G (p.Glu310Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003508790] |
Chr6:33437834 [GRCh38]
Chr6:33405611 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.404_410del (p.Arg135fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV003506993] |
Chr6:33432701..33432707 [GRCh38]
Chr6:33400478..33400484 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.13C>G (p.Arg5Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003506995] |
Chr6:33420277 [GRCh38]
Chr6:33388054 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.484C>G (p.Arg162Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003508027] |
Chr6:33432781 [GRCh38]
Chr6:33400558 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1593C>T (p.Cys531=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003508039] |
Chr6:33438836 [GRCh38]
Chr6:33406613 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3260C>T (p.Ser1087Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003508071] |
Chr6:33443812 [GRCh38]
Chr6:33411589 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2090G>A (p.Trp697Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003508273] |
Chr6:33441349 [GRCh38]
Chr6:33409126 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3090C>T (p.His1030=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003506901] |
Chr6:33443642 [GRCh38]
Chr6:33411419 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2439G>A (p.Leu813=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003508302] |
Chr6:33442991 [GRCh38]
Chr6:33410768 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.411A>T (p.Leu137=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003506994] |
Chr6:33432708 [GRCh38]
Chr6:33400485 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3142G>C (p.Gly1048Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003507552] |
Chr6:33443694 [GRCh38]
Chr6:33411471 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1367A>C (p.Gln456Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003507618] |
Chr6:33438272 [GRCh38]
Chr6:33406049 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3312A>C (p.Pro1104=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003508415] |
Chr6:33443864 [GRCh38]
Chr6:33411641 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1531+19C>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003508446] |
Chr6:33438582 [GRCh38]
Chr6:33406359 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3379G>A (p.Gly1127Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003507616] |
Chr6:33443931 [GRCh38]
Chr6:33411708 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1728C>A (p.Cys576Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003507725] |
Chr6:33440780 [GRCh38]
Chr6:33408557 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1468G>C (p.Ala490Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003507634] |
Chr6:33438500 [GRCh38]
Chr6:33406277 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.311G>T (p.Arg104Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003506898] |
Chr6:33432176 [GRCh38]
Chr6:33399953 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.3582+12T>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003506902] |
Chr6:33444629 [GRCh38]
Chr6:33412406 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.381G>A (p.Arg127=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003506984] |
Chr6:33432246 [GRCh38]
Chr6:33400023 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.172A>G (p.Met58Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003824786] |
Chr6:33423581 [GRCh38]
Chr6:33391358 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3020G>A (p.Ser1007Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003507204] |
Chr6:33443572 [GRCh38]
Chr6:33411349 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.1667A>T (p.Asn556Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003507529] |
Chr6:33438910 [GRCh38]
Chr6:33406687 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3309T>G (p.Arg1103=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003506980] |
Chr6:33443861 [GRCh38]
Chr6:33411638 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2294+9C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003507643] |
Chr6:33441768 [GRCh38]
Chr6:33409545 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2060G>A (p.Arg687Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003507551] |
Chr6:33441319 [GRCh38]
Chr6:33409096 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1970G>T (p.Trp657Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003507850] |
Chr6:33441229 [GRCh38]
Chr6:33409006 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.313T>C (p.Ser105Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003507801] |
Chr6:33432178 [GRCh38]
Chr6:33399955 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3238G>T (p.Ala1080Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003508026] |
Chr6:33443790 [GRCh38]
Chr6:33411567 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1447A>G (p.Ile483Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003508047] |
Chr6:33438479 [GRCh38]
Chr6:33406256 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.67+9dup |
duplication |
Intellectual disability, autosomal dominant 5 [RCV003507885] |
Chr6:33420339..33420340 [GRCh38]
Chr6:33388116..33388117 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3338G>A (p.Gly1113Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003507824] |
Chr6:33443890 [GRCh38]
Chr6:33411667 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1499T>C (p.Leu500Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003508144] |
Chr6:33438531 [GRCh38]
Chr6:33406308 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.4023A>G (p.Ala1341=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003508249] |
Chr6:33451897 [GRCh38]
Chr6:33419674 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2075T>A (p.Leu692Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003508294] |
Chr6:33441334 [GRCh38]
Chr6:33409111 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1516C>T (p.Leu506Phe) |
single nucleotide variant |
Developmental disorder [RCV003764450] |
Chr6:33438548 [GRCh38]
Chr6:33406325 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2400T>C (p.Gly800=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003811273] |
Chr6:33442952 [GRCh38]
Chr6:33410729 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2103C>G (p.Pro701=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003835208] |
Chr6:33441362 [GRCh38]
Chr6:33409139 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2336+9C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003615561] |
Chr6:33442503 [GRCh38]
Chr6:33410280 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.199C>T (p.Leu67=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003833329] |
Chr6:33425807 [GRCh38]
Chr6:33393584 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1387-19G>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003615665] |
Chr6:33438400 [GRCh38]
Chr6:33406177 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.73C>T (p.Arg25Trp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003850149]|not provided [RCV004775521] |
Chr6:33423482 [GRCh38]
Chr6:33391259 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.387+14del |
deletion |
Intellectual disability, autosomal dominant 5 [RCV003836538] |
Chr6:33432266 [GRCh38]
Chr6:33400043 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1164C>T (p.Gly388=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616153] |
Chr6:33438069 [GRCh38]
Chr6:33405846 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3977C>A (p.Pro1326Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616216] |
Chr6:33451851 [GRCh38]
Chr6:33419628 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.763-5G>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616312] |
Chr6:33437663 [GRCh38]
Chr6:33405440 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1677-8C>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616328] |
Chr6:33440721 [GRCh38]
Chr6:33408498 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2307T>C (p.Leu769=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616377] |
Chr6:33442465 [GRCh38]
Chr6:33410242 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2151C>T (p.Leu717=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616427] |
Chr6:33441616 [GRCh38]
Chr6:33409393 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1702G>T (p.Val568Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616615] |
Chr6:33440754 [GRCh38]
Chr6:33408531 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.45G>C (p.Ala15=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616620] |
Chr6:33420309 [GRCh38]
Chr6:33388086 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3423A>C (p.Pro1141=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616753] |
Chr6:33444458 [GRCh38]
Chr6:33412235 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.882C>T (p.Thr294=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616825] |
Chr6:33437787 [GRCh38]
Chr6:33405564 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2970del (p.Val992fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV003616891] |
Chr6:33443521 [GRCh38]
Chr6:33411298 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.189+1G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616925] |
Chr6:33423599 [GRCh38]
Chr6:33391376 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.3307C>T (p.Arg1103Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003617005] |
Chr6:33443859 [GRCh38]
Chr6:33411636 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1436G>A (p.Arg479Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003617046] |
Chr6:33438468 [GRCh38]
Chr6:33406245 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2401G>A (p.Gly801Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003617231] |
Chr6:33442953 [GRCh38]
Chr6:33410730 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3233T>A (p.Val1078Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003850217] |
Chr6:33443785 [GRCh38]
Chr6:33411562 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2294G>A (p.Ser765Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003834742] |
Chr6:33441759 [GRCh38]
Chr6:33409536 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1532-3C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003615575] |
Chr6:33438772 [GRCh38]
Chr6:33406549 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2650C>A (p.Arg884=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616058] |
Chr6:33443202 [GRCh38]
Chr6:33410979 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2294+12G>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616907] |
Chr6:33441771 [GRCh38]
Chr6:33409548 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.380G>A (p.Arg127Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003617287] |
Chr6:33432245 [GRCh38]
Chr6:33400022 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2343G>A (p.Met781Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616182] |
Chr6:33442895 [GRCh38]
Chr6:33410672 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1788C>T (p.Arg596=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616191] |
Chr6:33440840 [GRCh38]
Chr6:33408617 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2472C>T (p.Ser824=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003617058] |
Chr6:33443024 [GRCh38]
Chr6:33410801 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.860A>C (p.Asp287Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616444] |
Chr6:33437765 [GRCh38]
Chr6:33405542 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1474A>G (p.Lys492Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616462] |
Chr6:33438506 [GRCh38]
Chr6:33406283 [GRCh37]
Chr6:6p21.32 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_006772.3(SYNGAP1):c.3681del (p.Glu1228fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV003616475] |
Chr6:33446672 [GRCh38]
Chr6:33414449 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2282G>A (p.Arg761Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003617107] |
Chr6:33441747 [GRCh38]
Chr6:33409524 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.277C>A (p.Arg93=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003617119] |
Chr6:33425885 [GRCh38]
Chr6:33393662 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2765G>A (p.Arg922Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003615762] |
Chr6:33443317 [GRCh38]
Chr6:33411094 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1424G>A (p.Arg475Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004373986]|Intellectual disability, autosomal dominant 5 [RCV003617138] |
Chr6:33438456 [GRCh38]
Chr6:33406233 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1532-13C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003810665] |
Chr6:33438762 [GRCh38]
Chr6:33406539 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1202G>A (p.Arg401Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003615963] |
Chr6:33438107 [GRCh38]
Chr6:33405884 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.175C>T (p.Leu59=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616057] |
Chr6:33423584 [GRCh38]
Chr6:33391361 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3817C>T (p.Leu1273=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003617229] |
Chr6:33447865 [GRCh38]
Chr6:33415642 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2294+3G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003615717] |
Chr6:33441762 [GRCh38]
Chr6:33409539 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.190-14C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003617252] |
Chr6:33425784 [GRCh38]
Chr6:33393561 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2098C>T (p.Leu700=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003617272] |
Chr6:33441357 [GRCh38]
Chr6:33409134 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2758C>T (p.Gln920Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003615994] |
Chr6:33443310 [GRCh38]
Chr6:33411087 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2370C>G (p.Thr790=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616001] |
Chr6:33442922 [GRCh38]
Chr6:33410699 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.28del (p.Arg10fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV003616241] |
Chr6:33420292 [GRCh38]
Chr6:33388069 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2238G>A (p.Val746=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616099] |
Chr6:33441703 [GRCh38]
Chr6:33409480 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3821G>A (p.Arg1274His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616192] |
Chr6:33447869 [GRCh38]
Chr6:33415646 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.187G>A (p.Glu63Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616505] |
Chr6:33423596 [GRCh38]
Chr6:33391373 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2776_2777del (p.Ser926fs) |
microsatellite |
Intellectual disability, autosomal dominant 5 [RCV003616528] |
Chr6:33443325..33443326 [GRCh38]
Chr6:33411102..33411103 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1003C>T (p.Arg335Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616588] |
Chr6:33437908 [GRCh38]
Chr6:33405685 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2115+1G>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003615598] |
Chr6:33441375 [GRCh38]
Chr6:33409152 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2359C>T (p.Pro787Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616997] |
Chr6:33442911 [GRCh38]
Chr6:33410688 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2337-9_2337-3del |
deletion |
Intellectual disability, autosomal dominant 5 [RCV003615976] |
Chr6:33442879..33442885 [GRCh38]
Chr6:33410656..33410662 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2571C>T (p.Ser857=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616075] |
Chr6:33443123 [GRCh38]
Chr6:33410900 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1532-20C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616149] |
Chr6:33438755 [GRCh38]
Chr6:33406532 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.382C>A (p.Pro128Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616167] |
Chr6:33432247 [GRCh38]
Chr6:33400024 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1914-15T>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616200] |
Chr6:33441158 [GRCh38]
Chr6:33408935 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1957C>T (p.Leu653=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003814145] |
Chr6:33441216 [GRCh38]
Chr6:33408993 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2987C>G (p.Pro996Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616248] |
Chr6:33443539 [GRCh38]
Chr6:33411316 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2976C>G (p.Val992=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616309] |
Chr6:33443528 [GRCh38]
Chr6:33411305 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1463C>T (p.Thr488Met) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616425] |
Chr6:33438495 [GRCh38]
Chr6:33406272 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.514C>A (p.Arg172=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616349] |
Chr6:33435156 [GRCh38]
Chr6:33402933 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.401G>A (p.Ser134Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616369] |
Chr6:33432698 [GRCh38]
Chr6:33400475 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2809G>C (p.Asp937His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616438] |
Chr6:33443361 [GRCh38]
Chr6:33411138 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.388-11T>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616269] |
Chr6:33432674 [GRCh38]
Chr6:33400451 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3886-7C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616337] |
Chr6:33451753 [GRCh38]
Chr6:33419530 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3250C>G (p.Pro1084Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616461] |
Chr6:33443802 [GRCh38]
Chr6:33411579 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2235_2238dup (p.Val747fs) |
microsatellite |
Intellectual disability, autosomal dominant 5 [RCV003616526] |
Chr6:33441699..33441700 [GRCh38]
Chr6:33409476..33409477 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.702G>A (p.Arg234=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616532] |
Chr6:33435553 [GRCh38]
Chr6:33403330 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2158G>A (p.Asp720Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616602] |
Chr6:33441623 [GRCh38]
Chr6:33409400 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1147G>T (p.Gly383Trp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616661] |
Chr6:33438052 [GRCh38]
Chr6:33405829 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2825C>T (p.Pro942Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616771] |
Chr6:33443377 [GRCh38]
Chr6:33411154 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.936C>T (p.Phe312=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003833530] |
Chr6:33437841 [GRCh38]
Chr6:33405618 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3123C>A (p.Pro1041=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616634] |
Chr6:33443675 [GRCh38]
Chr6:33411452 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2037T>C (p.Phe679=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616658] |
Chr6:33441296 [GRCh38]
Chr6:33409073 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2550del (p.Pro851fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV003616884] |
Chr6:33443100 [GRCh38]
Chr6:33410877 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3055del (p.Arg1019fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV003616922] |
Chr6:33443605 [GRCh38]
Chr6:33411382 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3305C>T (p.Ala1102Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616705] |
Chr6:33443857 [GRCh38]
Chr6:33411634 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.2560C>T (p.Arg854Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003617250] |
Chr6:33443112 [GRCh38]
Chr6:33410889 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3885+8T>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003617276] |
Chr6:33447941 [GRCh38]
Chr6:33415718 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1717C>A (p.Arg573=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616113] |
Chr6:33440769 [GRCh38]
Chr6:33408546 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2421T>C (p.Tyr807=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616183] |
Chr6:33442973 [GRCh38]
Chr6:33410750 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1677-3C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616866] |
Chr6:33440726 [GRCh38]
Chr6:33408503 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2029A>T (p.Ser677Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616441] |
Chr6:33441288 [GRCh38]
Chr6:33409065 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.3057T>G (p.Arg1019=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616923] |
Chr6:33443609 [GRCh38]
Chr6:33411386 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1629G>A (p.Leu543=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616646] |
Chr6:33438872 [GRCh38]
Chr6:33406649 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.4021G>T (p.Ala1341Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616704] |
Chr6:33451895 [GRCh38]
Chr6:33419672 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2007T>C (p.Asn669=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003851451] |
Chr6:33441266 [GRCh38]
Chr6:33409043 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1918A>T (p.Thr640Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003837415] |
Chr6:33441177 [GRCh38]
Chr6:33408954 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2650C>T (p.Arg884Trp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003615573] |
Chr6:33443202 [GRCh38]
Chr6:33410979 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3310C>T (p.Pro1104Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003615680] |
Chr6:33443862 [GRCh38]
Chr6:33411639 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.2216A>T (p.Glu739Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616950] |
Chr6:33441681 [GRCh38]
Chr6:33409458 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3408+7G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616999] |
Chr6:33443967 [GRCh38]
Chr6:33411744 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1345A>G (p.Ser449Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003617043] |
Chr6:33438250 [GRCh38]
Chr6:33406027 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1726T>C (p.Cys576Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003615993]|not provided [RCV004786985] |
Chr6:33440778 [GRCh38]
Chr6:33408555 [GRCh37]
Chr6:6p21.32 |
likely pathogenic|uncertain significance |
| NM_006772.3(SYNGAP1):c.3202T>C (p.Leu1068=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003617275] |
Chr6:33443754 [GRCh38]
Chr6:33411531 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3304G>C (p.Ala1102Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616067] |
Chr6:33443856 [GRCh38]
Chr6:33411633 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2550G>A (p.Gly850=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003616114] |
Chr6:33443102 [GRCh38]
Chr6:33410879 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.526A>G (p.Ser176Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003813971] |
Chr6:33435168 [GRCh38]
Chr6:33402945 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2823C>T (p.Pro941=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003859735] |
Chr6:33443375 [GRCh38]
Chr6:33411152 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.763-7A>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003819045] |
Chr6:33437661 [GRCh38]
Chr6:33405438 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2337-1G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003842907] |
Chr6:33442888 [GRCh38]
Chr6:33410665 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.2101C>T (p.Pro701Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003853943] |
Chr6:33441360 [GRCh38]
Chr6:33409137 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1402A>G (p.Met468Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003843134] |
Chr6:33438434 [GRCh38]
Chr6:33406211 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2502G>C (p.Met834Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003864418] |
Chr6:33443054 [GRCh38]
Chr6:33410831 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3379G>C (p.Gly1127Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003824139] |
Chr6:33443931 [GRCh38]
Chr6:33411708 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.68-15G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003860725] |
Chr6:33423462 [GRCh38]
Chr6:33391239 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.67+13G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003820536] |
Chr6:33420344 [GRCh38]
Chr6:33388121 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2116-13C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003864908] |
Chr6:33441568 [GRCh38]
Chr6:33409345 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2324G>C (p.Arg775Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003819554] |
Chr6:33442482 [GRCh38]
Chr6:33410259 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.29G>A (p.Arg10Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003853756] |
Chr6:33420293 [GRCh38]
Chr6:33388070 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.444C>T (p.Pro148=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003818852] |
Chr6:33432741 [GRCh38]
Chr6:33400518 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.881_886delinsTCACCG (p.Thr294_Ser296delinsIleThrAla) |
indel |
Intellectual disability, autosomal dominant 5 [RCV003862441] |
Chr6:33437786..33437791 [GRCh38]
Chr6:33405563..33405568 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.201A>G (p.Leu67=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003823265] |
Chr6:33425809 [GRCh38]
Chr6:33393586 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.804C>T (p.Ile268=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003820318] |
Chr6:33437709 [GRCh38]
Chr6:33405486 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2295-13C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003844320] |
Chr6:33442440 [GRCh38]
Chr6:33410217 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.603T>A (p.Asp201Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003860791] |
Chr6:33435245 [GRCh38]
Chr6:33403022 [GRCh37]
Chr6:6p21.32 |
benign |
| NM_006772.3(SYNGAP1):c.3957C>T (p.Ala1319=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003822961] |
Chr6:33451831 [GRCh38]
Chr6:33419608 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2523G>A (p.Val841=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003863334] |
Chr6:33443075 [GRCh38]
Chr6:33410852 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3023A>G (p.Asp1008Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003823040] |
Chr6:33443575 [GRCh38]
Chr6:33411352 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1245G>A (p.Glu415=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003863440] |
Chr6:33438150 [GRCh38]
Chr6:33405927 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3903C>A (p.Pro1301=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003843938] |
Chr6:33451777 [GRCh38]
Chr6:33419554 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1067G>A (p.Arg356His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003846109] |
Chr6:33437972 [GRCh38]
Chr6:33405749 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3111C>T (p.Ile1037=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003859160] |
Chr6:33443663 [GRCh38]
Chr6:33411440 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.1513T>C (p.Tyr505His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003988805] |
Chr6:33438545 [GRCh38]
Chr6:33406322 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.3432_3433insCCAC (p.Asn1145fs) |
insertion |
Intellectual disability, autosomal dominant 5 [RCV003988806] |
Chr6:33444467..33444468 [GRCh38]
Chr6:33412244..33412245 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_001014433.2(CUTA):c.4A>T (p.Ile2Leu) |
single nucleotide variant |
not specified [RCV004375320] |
Chr6:33418182 [GRCh38]
Chr6:33385959 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1219del (p.Gln407fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV003988804] |
Chr6:33438123 [GRCh38]
Chr6:33405900 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2116-1G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003988807] |
Chr6:33441580 [GRCh38]
Chr6:33409357 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2014del (p.Thr672fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV003988808] |
Chr6:33441273 [GRCh38]
Chr6:33409050 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1352T>C (p.Leu451Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003988809] |
Chr6:33438257 [GRCh38]
Chr6:33406034 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.712G>T (p.Glu238Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003988810] |
Chr6:33435563 [GRCh38]
Chr6:33403340 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.531_532del (p.Phe177fs) |
deletion |
Intellectual disability, autosomal dominant 5 [RCV003988811] |
Chr6:33435173..33435174 [GRCh38]
Chr6:33402950..33402951 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2337-6T>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003989240] |
Chr6:33442883 [GRCh38]
Chr6:33410660 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3125_3138del (p.Gln1042fs) |
deletion |
SYNGAP1-related disorder [RCV004548974] |
Chr6:33443673..33443686 [GRCh38]
Chr6:33411450..33411463 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.467_479del (p.Phe156fs) |
deletion |
not provided [RCV004547076] |
Chr6:33432762..33432774 [GRCh38]
Chr6:33400539..33400551 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1082A>C (p.Gln361Pro) |
single nucleotide variant |
Seizure [RCV004547423] |
Chr6:33437987 [GRCh38]
Chr6:33405764 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.3409-9T>C |
single nucleotide variant |
SYNGAP1-related disorder [RCV004548800] |
Chr6:33444435 [GRCh38]
Chr6:33412212 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.3751C>T (p.Gln1251Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV004526385] |
Chr6:33446743 [GRCh38]
Chr6:33414520 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1022_1030delinsTA (p.Gly341fs) |
indel |
Intellectual disability, autosomal dominant 5 [RCV003988620] |
Chr6:33437927..33437935 [GRCh38]
Chr6:33405704..33405712 [GRCh37]
Chr6:6p21.32 |
not provided |
| NM_006772.3(SYNGAP1):c.1366C>T (p.Gln456Ter) |
single nucleotide variant |
not provided [RCV004721923] |
Chr6:33438271 [GRCh38]
Chr6:33406048 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1483G>A (p.Glu495Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003990771] |
Chr6:33438515 [GRCh38]
Chr6:33406292 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1058T>C (p.Leu353Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV003992127] |
Chr6:33437963 [GRCh38]
Chr6:33405740 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2914C>G (p.Pro972Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004463686] |
Chr6:33443466 [GRCh38]
Chr6:33411243 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1564G>T (p.Glu522Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV004463684] |
Chr6:33438807 [GRCh38]
Chr6:33406584 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.1784T>C (p.Leu595Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004463685] |
Chr6:33440836 [GRCh38]
Chr6:33408613 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1513T>G (p.Tyr505Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004463682] |
Chr6:33438545 [GRCh38]
Chr6:33406322 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.1995T>G (p.Tyr665Ter) |
single nucleotide variant |
not provided [RCV004592091] |
Chr6:33441254 [GRCh38]
Chr6:33409031 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.2567A>G (p.Asn856Ser) |
single nucleotide variant |
not provided [RCV004592333] |
Chr6:33443119 [GRCh38]
Chr6:33410896 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2774del (p.Leu925fs) |
deletion |
not provided [RCV004593525] |
Chr6:33443326 [GRCh38]
Chr6:33411103 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.3136C>G (p.Pro1046Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004463687] |
Chr6:33443688 [GRCh38]
Chr6:33411465 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3167dup (p.Ser1057fs) |
duplication |
not provided [RCV004592155] |
Chr6:33443714..33443715 [GRCh38]
Chr6:33411491..33411492 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.4008G>C (p.Glu1336Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004670892] |
Chr6:33451882 [GRCh38]
Chr6:33419659 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.136C>T (p.Pro46Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004681835] |
Chr6:33423545 [GRCh38]
Chr6:33391322 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3138dup (p.Ser1047fs) |
duplication |
Intellectual disability, autosomal dominant 5 [RCV004593655] |
Chr6:33443685..33443686 [GRCh38]
Chr6:33411462..33411463 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.3794+1G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV004595736] |
Chr6:33446787 [GRCh38]
Chr6:33414564 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NC_000006.11:g.(?_33131455)_(33388128_?)dup |
duplication |
MHC class I deficiency [RCV004578657] |
Chr6:33131455..33388128 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NC_000006.11:g.(?_33388042)_(33679463_?)del |
deletion |
Intellectual disability, autosomal dominant 5 [RCV004578659] |
Chr6:33388042..33679463 [GRCh37]
Chr6:6p21.32-21.31 |
pathogenic |
| NC_000006.11:g.(?_33388042)_(33419683_?)dup |
duplication |
Intellectual disability, autosomal dominant 5 [RCV004578660] |
Chr6:33388042..33419683 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NC_000006.11:g.(?_33415675)_(33422480_?)del |
deletion |
Intellectual disability, autosomal dominant 5 [RCV004578661] |
Chr6:33415675..33422480 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NC_000006.11:g.(?_33406026)_(33416171_?)del |
deletion |
Intellectual disability, autosomal dominant 5 [RCV004578662] |
Chr6:33406026..33416171 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2557G>C (p.Gly853Arg) |
single nucleotide variant |
not provided [RCV004779018] |
Chr6:33443109 [GRCh38]
Chr6:33410886 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1126G>T (p.Gly376Cys) |
single nucleotide variant |
not provided [RCV004779685] |
Chr6:33438031 [GRCh38]
Chr6:33405808 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.223G>A (p.Glu75Lys) |
single nucleotide variant |
not provided [RCV004762603] |
|
likely benign |
| NM_006772.3(SYNGAP1):c.3614T>C (p.Leu1205Pro) |
single nucleotide variant |
not provided [RCV004779949] |
Chr6:33446606 [GRCh38]
Chr6:33414383 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.498T>A (p.Ala166=) |
single nucleotide variant |
not provided [RCV004763000] |
|
uncertain significance |
| NM_006772.3(SYNGAP1):c.1971G>C (p.Trp657Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV004781976] |
Chr6:33441230 [GRCh38]
Chr6:33409007 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.558G>C (p.Leu186Phe) |
single nucleotide variant |
not provided [RCV004725830] |
Chr6:33435200 [GRCh38]
Chr6:33402977 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.387+3G>T |
single nucleotide variant |
not provided [RCV004775752] |
Chr6:33432255 [GRCh38]
Chr6:33400032 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3862A>G (p.Lys1288Glu) |
single nucleotide variant |
not provided [RCV004760816] |
|
uncertain significance |
| NM_006772.3(SYNGAP1):c.221G>A (p.Ser74Asn) |
single nucleotide variant |
not provided [RCV004771168] |
Chr6:33425829 [GRCh38]
Chr6:33393606 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1633_1635dup (p.Met545_Cys546insMet) |
duplication |
not provided [RCV004724147] |
Chr6:33438875..33438876 [GRCh38]
Chr6:33406652..33406653 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1511A>G (p.Lys504Arg) |
single nucleotide variant |
SYNGAP1-related disorder [RCV004728105] |
Chr6:33438543 [GRCh38]
Chr6:33406320 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.111C>A (p.Ser37=) |
single nucleotide variant |
not provided [RCV004811198] |
Chr6:33423520 [GRCh38]
Chr6:33391297 [GRCh37]
Chr6:6p21.32 |
likely benign |
| NM_006772.3(SYNGAP1):c.2932C>T (p.Pro978Ser) |
single nucleotide variant |
not provided [RCV004792974] |
Chr6:33443484 [GRCh38]
Chr6:33411261 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.2914C>T (p.Pro972Ser) |
single nucleotide variant |
not provided [RCV004761396] |
|
uncertain significance |
| NM_006772.3(SYNGAP1):c.37A>G (p.Ile13Val) |
single nucleotide variant |
not provided [RCV004766436] |
Chr6:33420301 [GRCh38]
Chr6:33388078 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.866T>C (p.Met289Thr) |
single nucleotide variant |
SYNGAP1-related disorder [RCV004729918] |
Chr6:33437771 [GRCh38]
Chr6:33405548 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3906G>C (p.Leu1302Phe) |
single nucleotide variant |
not provided [RCV004724039] |
Chr6:33451780 [GRCh38]
Chr6:33419557 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1957C>G (p.Leu653Val) |
single nucleotide variant |
not provided [RCV004774187] |
Chr6:33441216 [GRCh38]
Chr6:33408993 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3188dup (p.Gln1064fs) |
duplication |
not provided [RCV004721849] |
Chr6:33443735..33443736 [GRCh38]
Chr6:33411512..33411513 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.2825dup (p.Gly943fs) |
duplication |
Intellectual disability, autosomal dominant 5 [RCV004795755] |
Chr6:33443372..33443373 [GRCh38]
Chr6:33411149..33411150 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.692_693dup (p.Ala232fs) |
duplication |
Intellectual disability, autosomal dominant 5 [RCV004767690] |
Chr6:33435541..33435542 [GRCh38]
Chr6:33403318..33403319 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.3192G>C (p.Gln1064His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 5 [RCV004785832] |
Chr6:33443744 [GRCh38]
Chr6:33411521 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1877T>C (p.Ile626Thr) |
single nucleotide variant |
not provided [RCV004760862] |
|
uncertain significance |
| NM_006772.3(SYNGAP1):c.3773A>G (p.Gln1258Arg) |
single nucleotide variant |
not provided [RCV004761058] |
|
uncertain significance |
| NM_006772.3(SYNGAP1):c.491G>A (p.Arg164Gln) |
single nucleotide variant |
not provided [RCV004768363] |
Chr6:33432788 [GRCh38]
Chr6:33400565 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1370G>A (p.Ser457Asn) |
single nucleotide variant |
not provided [RCV004773591] |
Chr6:33438275 [GRCh38]
Chr6:33406052 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.1603dup (p.Ser535fs) |
duplication |
Intellectual disability, autosomal dominant 5 [RCV004776320] |
Chr6:33438845..33438846 [GRCh38]
Chr6:33406622..33406623 [GRCh37]
Chr6:6p21.32 |
pathogenic |
| NM_006772.3(SYNGAP1):c.4006G>T (p.Glu1336Ter) |
single nucleotide variant |
not provided [RCV004725844] |
Chr6:33451880 [GRCh38]
Chr6:33419657 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.3056G>T (p.Arg1019Leu) |
single nucleotide variant |
not provided [RCV004766142] |
Chr6:33443608 [GRCh38]
Chr6:33411385 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.851T>C (p.Leu284Pro) |
single nucleotide variant |
SYNGAP1-related disorder [RCV004729790] |
Chr6:33437756 [GRCh38]
Chr6:33405533 [GRCh37]
Chr6:6p21.32 |
likely pathogenic |
| NM_006772.3(SYNGAP1):c.2131C>G (p.Leu711Val) |
single nucleotide variant |
SYNGAP1-related disorder [RCV004739091] |
Chr6:33441596 [GRCh38]
Chr6:33409373 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
| NM_006772.3(SYNGAP1):c.67+5G>A |
single nucleotide variant |
not provided [RCV004774057] |
Chr6:33420336 [GRCh38]
Chr6:33388113 [GRCh37]
Chr6:6p21.32 |
uncertain significance |
