ClinVar Miner

List of variants reported as benign for RASopathy by ClinGen RASopathy Variant Curation Expert Panel

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 120
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HGVS dbSNP
NM_002755.3(MAP2K1):c.1023-8C>T rs41306345
NM_002755.3(MAP2K1):c.1068+12_1068+15del rs397516788
NM_002755.3(MAP2K1):c.1137C>T (p.Ile379=) rs150841154
NM_002755.3(MAP2K1):c.315C>T (p.Pro105=) rs144166521
NM_002755.3(MAP2K1):c.438+8A>T rs550240942
NM_002755.3(MAP2K1):c.648C>T (p.Ile216=) rs148968935
NM_002755.3(MAP2K1):c.694-12TC[4] rs113913469
NM_002755.3(MAP2K1):c.711G>A (p.Gly237=) rs17586159
NM_002755.3(MAP2K1):c.804C>G (p.Ala268=) rs371652992
NM_002755.3(MAP2K1):c.848C>T (p.Ala283Val) rs144080051
NM_002755.3(MAP2K1):c.927A>T (p.Ala309=) rs146869577
NM_002834.4(PTPN11):c.1028G>A (p.Arg343Gln) rs535800148
NM_002834.4(PTPN11):c.1052G>A (p.Arg351Gln) rs397507534
NM_002834.4(PTPN11):c.1221A>G (p.Gly407=) rs532529560
NM_002834.4(PTPN11):c.1650G>A (p.Ala550=) rs374896287
NM_002834.4(PTPN11):c.1658C>T (p.Thr553Met) rs148176616
NM_002834.4(PTPN11):c.255C>T (p.His85=) rs61736914
NM_002834.4(PTPN11):c.525+12G>C rs41304351
NM_002834.4(PTPN11):c.526-8C>A rs184804143
NM_002834.4(PTPN11):c.53A>G (p.Asn18Ser) rs587778635
NM_002834.4(PTPN11):c.558G>T (p.Arg186=) rs200920312
NM_002834.4(PTPN11):c.854-32A>C rs187389813
NM_002834.4(PTPN11):c.925A>G (p.Ile309Val) rs201787206
NM_002834.4(PTPN11):c.951G>A (p.Lys317=) rs576405446
NM_002880.3(RAF1):c.1108+9_1108+21del rs727504451
NM_002880.3(RAF1):c.1141G>A (p.Asp381Asn) rs559632360
NM_002880.3(RAF1):c.119G>A (p.Arg40His) rs192632236
NM_002880.3(RAF1):c.1587G>A (p.Ser529=) rs114687276
NM_002880.3(RAF1):c.1629G>A (p.Thr543=) rs5746244
NM_002880.3(RAF1):c.1629G>C (p.Thr543=) rs5746244
NM_002880.3(RAF1):c.1668+4A>G rs771344560
NM_002880.3(RAF1):c.1755A>G (p.Val585=) rs3730296
NM_002880.3(RAF1):c.1830A>G (p.Gln610=) rs141791080
NM_002880.3(RAF1):c.1914G>A (p.Thr638=) rs144876026
NM_002880.3(RAF1):c.1941C>T (p.Val647=) rs3730297
NM_002880.3(RAF1):c.212A>G (p.Asn71Ser) rs184022679
NM_002880.3(RAF1):c.923C>T (p.Pro308Leu) rs5746220
NM_002880.3(RAF1):c.94A>G (p.Ile32Val) rs372738063
NM_004333.6(BRAF):c.1068A>G (p.Gln356=) rs143335467
NM_004333.6(BRAF):c.1150A>G (p.Arg384Gly) rs545495379
NM_004333.6(BRAF):c.1227A>G (p.Ser409=) rs145035762
NM_004333.6(BRAF):c.1332G>A (p.Arg444=) rs56101602
NM_004333.6(BRAF):c.1383A>G (p.Gln461=) rs56216404
NM_004333.6(BRAF):c.1433-19A>G rs369635503
NM_004333.6(BRAF):c.1929A>G (p.Gly643=) rs9648696
NM_004333.6(BRAF):c.2127+3A>G rs371976102
NM_004333.6(BRAF):c.2235A>G (p.Leu745=) rs56046546
NM_004333.6(BRAF):c.36G>A (p.Ala12=) rs397507454
NM_004333.6(BRAF):c.375T>G (p.Ser125=) rs201507202
NM_004333.6(BRAF):c.64G>A (p.Asp22Asn) rs397507456
NM_004333.6(BRAF):c.708C>T (p.Asn236=) rs138333692
NM_004333.6(BRAF):c.968C>T (p.Ser323Leu) rs397516907
NM_004333.6(BRAF):c.976A>G (p.Ile326Val) rs775040765
NM_004985.5(KRAS):c.519T>C (p.Asp173=) rs1137282
NM_004985.5(KRAS):c.528_530GAA[1] (p.Lys180del) rs397517043
NM_005343.4(HRAS):c.257A>C (p.Asn86Thr) rs138272051
NM_005343.4(HRAS):c.291-6T>G rs766909143
NM_005343.4(HRAS):c.309G>A (p.Val103=) rs575789207
NM_005343.4(HRAS):c.357C>T (p.Asp119=) rs111352454
NM_005343.4(HRAS):c.369C>T (p.Arg123=) rs200945755
NM_005343.4(HRAS):c.378A>G (p.Glu126=) rs397517140
NM_005343.4(HRAS):c.477G>A (p.Leu159=) rs140060409
NM_005343.4(HRAS):c.520C>T (p.Pro174Ser) rs397517144
NM_005343.4(HRAS):c.81T>C (p.His27=) rs12628
NM_005633.3(SOS1):c.1018C>T (p.Pro340Ser) rs190222208
NM_005633.3(SOS1):c.1074+5G>C rs145155424
NM_005633.3(SOS1):c.1230G>A (p.Gln410=) rs141390073
NM_005633.3(SOS1):c.141T>C (p.Tyr47=) rs201649682
NM_005633.3(SOS1):c.1770G>A (p.Glu590=) rs553331572
NM_005633.3(SOS1):c.1772A>G (p.Asn591Ser) rs757213444
NM_005633.3(SOS1):c.195A>C (p.Arg65=) rs7609455
NM_005633.3(SOS1):c.1964C>T (p.Pro655Leu) rs56219475
NM_005633.3(SOS1):c.2010G>C (p.Leu670Phe) rs200712930
NM_005633.3(SOS1):c.2122G>A (p.Ala708Thr) rs140811086
NM_005633.3(SOS1):c.2167+6T>G rs186640807
NM_005633.3(SOS1):c.2238T>C (p.Asn746=) rs75877625
NM_005633.3(SOS1):c.2371C>A (p.Leu791Ile) rs142004123
NM_005633.3(SOS1):c.2760G>A (p.Arg920=) rs149092581
NM_005633.3(SOS1):c.2988G>A (p.Pro996=) rs35462677
NM_005633.3(SOS1):c.2997T>C (p.Asn999=) rs145364368
NM_005633.3(SOS1):c.3032A>G (p.Asn1011Ser) rs8192671
NM_005633.3(SOS1):c.3072C>T (p.Leu1024=) rs558386297
NM_005633.3(SOS1):c.3391+7A>G rs201982464
NM_005633.3(SOS1):c.3552T>G (p.Pro1184=) rs200485215
NM_005633.3(SOS1):c.553A>G (p.Ile185Val) rs143962515
NM_005633.3(SOS1):c.570C>T (p.Asp190=) rs55980502
NM_005633.3(SOS1):c.73C>T (p.Pro25Ser) rs139592595
NM_005633.3(SOS1):c.749T>C (p.Val250Ala) rs139290271
NM_007373.3(SHOC2):c.10A>C (p.Ser4Arg) rs397517231
NM_007373.3(SHOC2):c.1302C>T (p.Asn434=) rs146147503
NM_007373.3(SHOC2):c.1423-7C>T rs180671383
NM_007373.3(SHOC2):c.1594A>G (p.Ser532Gly) rs145463534
NM_007373.3(SHOC2):c.457C>T (p.Leu153=) rs34081996
NM_007373.3(SHOC2):c.886C>T (p.Leu296=) rs199723694
NM_007373.3(SHOC2):c.894A>C (p.Ala298=) rs767912952
NM_030662.3(MAP2K2):c.1020C>T (p.Pro340=) rs192389729
NM_030662.3(MAP2K2):c.1074G>A (p.Ala358=) rs140896887
NM_030662.3(MAP2K2):c.1093-6T>C rs369681843
NM_030662.3(MAP2K2):c.1162C>T (p.Arg388Trp) rs144383241
NM_030662.3(MAP2K2):c.1194C>T (p.Thr398=) rs144850779
NM_030662.3(MAP2K2):c.141C>T (p.Asp47=) rs201526172
NM_030662.3(MAP2K2):c.192C>T (p.Val64=) rs8157
NM_030662.3(MAP2K2):c.225C>T (p.Ile75=) rs561400866
NM_030662.3(MAP2K2):c.291C>A (p.Ile97=) rs200918323
NM_030662.3(MAP2K2):c.303+8C>G rs199612401
NM_030662.3(MAP2K2):c.405G>C (p.Gly135=) rs10424722
NM_030662.3(MAP2K2):c.420C>T (p.Asp140=) rs369925884
NM_030662.3(MAP2K2):c.453C>T (p.Asp151=) rs17851657
NM_030662.3(MAP2K2):c.498C>T (p.Pro166=) rs139404261
NM_030662.3(MAP2K2):c.525C>T (p.Ile175=) rs150833333
NM_030662.3(MAP2K2):c.546G>A (p.Ala182=) rs141402203
NM_030662.3(MAP2K2):c.580+6G>A rs201435249
NM_030662.3(MAP2K2):c.603C>T (p.Leu201=) rs148291450
NM_030662.3(MAP2K2):c.660C>A (p.Ile220=) rs10250
NM_030662.3(MAP2K2):c.690G>A (p.Thr230=) rs201287884
NM_030662.3(MAP2K2):c.823C>T (p.Leu275=) rs145934142
NM_030662.3(MAP2K2):c.825G>A (p.Leu275=) rs587781027
NM_030662.3(MAP2K2):c.844C>T (p.Pro282Ser) rs142307980
NM_030662.3(MAP2K2):c.846C>T (p.Pro282=) rs11539506
NM_030662.3(MAP2K2):c.893C>T (p.Pro298Leu) rs200371894

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