ClinVar Miner

List of variants studied for RASopathy by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 126
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HGVS dbSNP gnomAD frequency
NM_002745.5(MAPK1):c.763A>G (p.Ile255Val) rs375334289 0.00002
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs) rs267606600 0.00001
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) rs397507529 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_006939.4(SOS2):c.947C>G (p.Pro316Arg) rs1885702697 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_000268.4(NF2):c.1069G>A (p.Glu357Lys) rs2147072954
NM_001042492.3(NF1):c.1021_1022del (p.Val341fs) rs2066509100
NM_001042492.3(NF1):c.1022_1023insGA (p.Ile342fs) rs2143874087
NM_001042492.3(NF1):c.1101del (p.Ser368fs) rs2143878939
NM_001042492.3(NF1):c.1358del (p.Gly453fs) rs2143914991
NM_001042492.3(NF1):c.1426A>G (p.Lys476Glu) rs2066785949
NM_001042492.3(NF1):c.160del (p.Val54fs) rs2143626844
NM_001042492.3(NF1):c.1691_1692insC (p.Ala565fs) rs2144004523
NM_001042492.3(NF1):c.1702_1703dup (p.Thr569fs) rs2144004677
NM_001042492.3(NF1):c.1714dup (p.Glu572fs) rs876660135
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_001042492.3(NF1):c.1920del (p.Ser641fs) rs2144026762
NM_001042492.3(NF1):c.1924C>T (p.Gln642Ter) rs2066991605
NM_001042492.3(NF1):c.2009_2016dup (p.Cys673fs) rs2151425528
NM_001042492.3(NF1):c.2034_2035insC (p.Ile679fs) rs2151425611
NM_001042492.3(NF1):c.2082del (p.Leu695fs) rs2151425736
NM_001042492.3(NF1):c.2205T>A (p.Tyr735Ter)
NM_001042492.3(NF1):c.2248dup (p.Thr750fs) rs2151426166
NM_001042492.3(NF1):c.2409_2409+4delinsC rs2151427639
NM_001042492.3(NF1):c.2729del (p.Gly910fs) rs1555614313
NM_001042492.3(NF1):c.2831_2832insAAAA (p.Phe944fs) rs2151429795
NM_001042492.3(NF1):c.2847_2850+1del rs2151429826
NM_001042492.3(NF1):c.2858T>A (p.Leu953Ter) rs2151430481
NM_001042492.3(NF1):c.288_288+2del rs2143646778
NM_001042492.3(NF1):c.2957del (p.Ala986fs) rs2151430768
NM_001042492.3(NF1):c.3063_3065del (p.Met1023del) rs2151431646
NM_001042492.3(NF1):c.3104T>A (p.Met1035Lys) rs137854553
NM_001042492.3(NF1):c.3104del (p.Met1035fs) rs2151431751
NM_001042492.3(NF1):c.3114-1G>C rs1555614611
NM_001042492.3(NF1):c.3142T>C (p.Trp1048Arg) rs1555614634
NM_001042492.3(NF1):c.3176A>G (p.Asp1059Gly) rs1597717658
NM_001042492.3(NF1):c.3236T>C (p.Leu1079Pro) rs2151433731
NM_001042492.3(NF1):c.3302A>T (p.Gln1101Leu) rs2151433891
NM_001042492.3(NF1):c.3329_3332del (p.Leu1109_Phe1110insTer) rs2067134264
NM_001042492.3(NF1):c.3347_3350del (p.Asp1116fs) rs2067134697
NM_001042492.3(NF1):c.350dup (p.Cys118fs) rs2143671563
NM_001042492.3(NF1):c.3556del (p.Ile1186fs) rs2151435407
NM_001042492.3(NF1):c.3574G>T (p.Glu1192Ter) rs1442037817
NM_001042492.3(NF1):c.3595del (p.Thr1199fs) rs2151435535
NM_001042492.3(NF1):c.3641_3645del (p.Met1214fs) rs2151435670
NM_001042492.3(NF1):c.3641dup (p.Met1214fs) rs2151435668
NM_001042492.3(NF1):c.376G>T (p.Glu126Ter) rs2143672030
NM_001042492.3(NF1):c.3778del (p.Met1260fs) rs2151437874
NM_001042492.3(NF1):c.3789del (p.Glu1264fs) rs2151437896
NM_001042492.3(NF1):c.385C>T (p.Gln129Ter) rs2143672195
NM_001042492.3(NF1):c.3870_3871insTAG (p.Val1291Ter) rs2151438075
NM_001042492.3(NF1):c.3876T>G (p.Tyr1292Ter) rs2067193414
NM_001042492.3(NF1):c.4235_4240del (p.Arg1412_Phe1413del) rs2151461951
NM_001042492.3(NF1):c.4313del (p.Gly1438fs) rs2151462156
NM_001042492.3(NF1):c.4327del (p.Ser1443fs) rs2151462210
NM_001042492.3(NF1):c.4432_4433insAA (p.Phe1478Ter) rs2151464499
NM_001042492.3(NF1):c.4509dup (p.Val1504fs) rs2151464701
NM_001042492.3(NF1):c.4563T>G (p.Tyr1521Ter) rs2151464836
NM_001042492.3(NF1):c.4578-3T>A rs1597748656
NM_001042492.3(NF1):c.4578-9T>A rs2067688959
NM_001042492.3(NF1):c.4608_4611delinsC (p.Asp1537del) rs2151466254
NM_001042492.3(NF1):c.4619C>A (p.Ala1540Glu) rs2151466279
NM_001042492.3(NF1):c.461_462del (p.Val153_Phe154insTer) rs2065795756
NM_001042492.3(NF1):c.4836G>C (p.Arg1612Ser) rs1555533268
NM_001042492.3(NF1):c.4981A>T (p.Lys1661Ter) rs2151537991
NM_001042492.3(NF1):c.4986G>A (p.Trp1662Ter) rs2151538007
NM_001042492.3(NF1):c.501T>A (p.Cys167Ter) rs2143707089
NM_001042492.3(NF1):c.5040T>A (p.Tyr1680Ter) rs1555533351
NM_001042492.3(NF1):c.5270T>G (p.Val1757Gly) rs1021835871
NM_001042492.3(NF1):c.5390del (p.Asn1797fs) rs2151541194
NM_001042492.3(NF1):c.5398A>C (p.Thr1800Pro) rs2151541217
NM_001042492.3(NF1):c.546dup (p.Ile183fs) rs2143707749
NM_001042492.3(NF1):c.5473_5506del (p.Ile1825fs) rs2151541479
NM_001042492.3(NF1):c.5534T>C (p.Ile1845Thr) rs1060500339
NM_001042492.3(NF1):c.5609+1G>T rs1131691117
NM_001042492.3(NF1):c.5652T>G (p.Phe1884Leu) rs1567613616
NM_001042492.3(NF1):c.579_581del (p.Leu194del) rs2143708173
NM_001042492.3(NF1):c.586G>T (p.Glu196Ter) rs876659079
NM_001042492.3(NF1):c.6004del (p.Gln2002fs) rs2151550785
NM_001042492.3(NF1):c.6022G>C (p.Asp2008His) rs786201924
NM_001042492.3(NF1):c.6052A>C (p.Ser2018Arg) rs2151553286
NM_001042492.3(NF1):c.6100dup (p.Thr2034fs) rs2151553456
NM_001042492.3(NF1):c.6488del (p.Leu2163fs) rs2151556143
NM_001042492.3(NF1):c.654+2T>C rs2143774762
NM_001042492.3(NF1):c.6564dup (p.Pro2189fs) rs2151556401
NM_001042492.3(NF1):c.6591del (p.Phe2197fs) rs2069707755
NM_001042492.3(NF1):c.6720_6721dup (p.Asn2241fs) rs2151558070
NM_001042492.3(NF1):c.6732del (p.Gln2245fs) rs2151558108
NM_001042492.3(NF1):c.6819+2T>G rs1135402894
NM_001042492.3(NF1):c.6820-2A>C rs2151559073
NM_001042492.3(NF1):c.693del (p.Phe231fs) rs2143777901
NM_001042492.3(NF1):c.7000G>C (p.Gly2334Arg) rs1597848100
NM_001042492.3(NF1):c.7048del (p.Ile2350fs) rs2151561981
NM_001042492.3(NF1):c.7060A>T (p.Lys2354Ter) rs2069795315
NM_001042492.3(NF1):c.7171del (p.Val2391fs) rs2151565274
NM_001042492.3(NF1):c.7376del (p.Lys2459fs) rs2151574416
NM_001042492.3(NF1):c.7739-3C>A rs747382969
NM_001042492.3(NF1):c.7739-3_7743delCAGAAACT
NM_001042492.3(NF1):c.7788_7789insG (p.Ser2597fs) rs2151582311
NM_001042492.3(NF1):c.7814del (p.Leu2605fs) rs2151582390
NM_001042492.3(NF1):c.968C>A (p.Ala323Asp) rs2066507556
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_002755.4(MAP2K1):c.265C>A (p.Pro89Thr) rs1265809314
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002834.5(PTPN11):c.1381G>T (p.Ala461Ser) rs121918468
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu) rs397507542
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.612A>T (p.Glu204Asp)
NM_002834.5(PTPN11):c.802G>T (p.Gly268Cys) rs397507527
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) rs180177037
NM_004985.5(KRAS):c.178G>C (p.Gly60Arg) rs104894359
NM_004985.5(KRAS):c.451-5642A>T rs1592798693
NM_005188.4(CBL):c.1100A>C (p.Gln367Pro) rs267606704
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_005633.4(SOS1):c.3068C>G (p.Pro1023Arg) rs1572806229
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu) rs397517172
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006912.6(RIT1):c.116T>G (p.Met39Arg) rs2102590945
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006912.6(RIT1):c.270G>A (p.Met90Ile) rs483352822

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