ClinVar Miner

List of variants reported as uncertain significance for Noonan syndrome by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 87
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HGVS dbSNP
NM_001354689.3(RAF1):c.*729AACA[4] rs371820097
NM_001354689.3(RAF1):c.*729AACA[6] rs371820097
NM_001354689.3(RAF1):c.977C>T (p.Ser326Leu) rs886041231
NM_001374258.1(BRAF):c.2248-16_2248-15del rs886062015
NM_001374258.1(BRAF):c.2248-27_2248-16delinsTCT rs886062016
NM_001374258.1(BRAF):c.2248-28dup rs60814637
NM_001374258.1(BRAF):c.2248-4del rs886062014
NM_001374258.1(BRAF):c.2248-5dup rs373442098
NM_002524.4(NRAS):c.-132C>T rs886045109
NM_002524.4(NRAS):c.-179G>C rs886045110
NM_002524.4(NRAS):c.-209A>G rs886045111
NM_002524.4(NRAS):c.-242G>C rs886045112
NM_002524.4(NRAS):c.-245C>T rs886045113
NM_002524.5(NRAS):c.*1062_*1063del rs775070295
NM_002524.5(NRAS):c.*935dup rs886045106
NM_002524.5(NRAS):c.235C>T (p.Leu79Phe)
NM_002755.4(MAP2K1):c.*148_*149del rs745540522
NM_002755.4(MAP2K1):c.*917del rs886051370
NM_002755.4(MAP2K1):c.*917dup rs886051370
NM_002755.4(MAP2K1):c.1068+12_1068+15del rs397516788
NM_002834.5(PTPN11):c.*1157ATG[13] rs80269561
NM_002834.5(PTPN11):c.*1157ATG[16] rs80269561
NM_002834.5(PTPN11):c.*1157ATG[17] rs80269561
NM_002834.5(PTPN11):c.*2731G>A rs768622106
NM_002834.5(PTPN11):c.*41_*46del rs886048967
NM_002834.5(PTPN11):c.*656del rs886048968
NM_002880.3(RAF1):c.-339_-338AG[1] rs527774250
NM_004985.5(KRAS):c.-160A>G rs727503111
NM_004985.5(KRAS):c.198A>G (p.Ala66=) rs200229810
NM_004985.5(KRAS):c.264A>G (p.Lys88=) rs370920665
NM_005633.4(SOS1):c.*1090TTTG[1] rs886056016
NM_005633.4(SOS1):c.*1694del rs767903412
NM_005633.4(SOS1):c.*2048_*2050dup rs761591990
NM_005633.4(SOS1):c.*2063_*2066dup rs886056011
NM_005633.4(SOS1):c.*2208dup rs886056010
NM_005633.4(SOS1):c.*2503_*2506dup rs886056007
NM_005633.4(SOS1):c.*298C>G rs886056021
NM_005633.4(SOS1):c.*3189_*3192del rs572584074
NM_005633.4(SOS1):c.*3416_*3417del rs200892895
NM_005633.4(SOS1):c.*3566_*3568del rs886056005
NM_005633.4(SOS1):c.*696G>A rs886056018
NM_005633.4(SOS1):c.*766del rs533720751
NM_005633.4(SOS1):c.1989A>C (p.Ile663=) rs587781172
NM_033360.4(KRAS):c.*1326C>T rs574966178
NM_033360.4(KRAS):c.*1622G>A rs886049194
NM_033360.4(KRAS):c.*16T>C rs779184057
NM_033360.4(KRAS):c.*1752A>G rs763217196
NM_033360.4(KRAS):c.*1777A>G rs886049193
NM_033360.4(KRAS):c.*180A>G rs886049198
NM_033360.4(KRAS):c.*1826C>G rs539213224
NM_033360.4(KRAS):c.*1831G>A rs531344668
NM_033360.4(KRAS):c.*1893A>G rs886049192
NM_033360.4(KRAS):c.*1967del rs886049191
NM_033360.4(KRAS):c.*2012T>C rs886049190
NM_033360.4(KRAS):c.*2360A>G rs886049189
NM_033360.4(KRAS):c.*2391_*2392insC rs886049188
NM_033360.4(KRAS):c.*2446G>A rs886049187
NM_033360.4(KRAS):c.*2577G>A rs886049186
NM_033360.4(KRAS):c.*2605G>A rs779071703
NM_033360.4(KRAS):c.*2815C>T rs886049185
NM_033360.4(KRAS):c.*297C>T rs886049197
NM_033360.4(KRAS):c.*3092_*3095del rs886049184
NM_033360.4(KRAS):c.*314C>T rs150334904
NM_033360.4(KRAS):c.*3269C>T rs886049183
NM_033360.4(KRAS):c.*3323T>C rs886049182
NM_033360.4(KRAS):c.*3575T>C rs749403585
NM_033360.4(KRAS):c.*3620C>T rs886049181
NM_033360.4(KRAS):c.*3672C>G rs188922523
NM_033360.4(KRAS):c.*3766A>G rs529959450
NM_033360.4(KRAS):c.*3803_*3804dup rs142323886
NM_033360.4(KRAS):c.*3875_*3878del rs886049180
NM_033360.4(KRAS):c.*4036A>G rs886049179
NM_033360.4(KRAS):c.*4187del rs34719539
NM_033360.4(KRAS):c.*4195G>A rs886049177
NM_033360.4(KRAS):c.*4549G>C rs545014897
NM_033360.4(KRAS):c.*4604G>A rs577486152
NM_033360.4(KRAS):c.*4619T>C rs768891600
NM_033360.4(KRAS):c.*4643G>A rs886049176
NM_033360.4(KRAS):c.*491C>G rs886049196
NM_033360.4(KRAS):c.*659del rs756307694
NM_033360.4(KRAS):c.*671C>T rs566222739
NM_033360.4(KRAS):c.*886A>G rs886049195
NM_033360.4(KRAS):c.*986T>C rs559143985
NM_033360.4(KRAS):c.-128C>G rs886049199
NM_033360.4(KRAS):c.-176_-174CGG[4] rs886049200
NM_033360.4(KRAS):c.-180G>A rs886049201
NM_033360.4(KRAS):c.389C>T (p.Ala130Val) rs730880473

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