ClinVar Miner

List of variants reported as likely benign for Noonan syndrome

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ClinVar version:
Total variants: 139
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HGVS dbSNP
NM_001354689.3(RAF1):c.1232G>T (p.Arg411Met) rs587782972
NM_001354689.3(RAF1):c.220A>G (p.Asn74Asp)
NM_001354689.3(RAF1):c.293T>C (p.Val98Ala) rs763559779
NM_001354689.3(RAF1):c.321-14dup rs202103447
NM_001354689.3(RAF1):c.505G>C (p.Gly169Arg) rs886039607
NM_001354689.3(RAF1):c.913A>G (p.Ser305Gly) rs150054973
NM_001374258.1(BRAF):c.101C>T (p.Ala34Val) rs1424449802
NM_001374258.1(BRAF):c.2248-5del rs373442098
NM_001374258.1(BRAF):c.78G>T (p.Glu26Asp) rs371877084
NM_001374258.1(BRAF):c.83GCGCCG[1] (p.28GA[1]) rs397507458
NM_001374258.1(BRAF):c.83GCGCCG[4] (p.28GA[4]) rs397507458
NM_002524.4(NRAS):c.-208T>A rs2273267
NM_002524.5(NRAS):c.*2510_*2515del rs549171175
NM_002524.5(NRAS):c.*2965del rs61652108
NM_002524.5(NRAS):c.443C>T (p.Thr148Ile)
NM_002524.5(NRAS):c.553C>T (p.Pro185Ser) rs374061873
NM_002709.3(PPP1CB):c.31C>G (p.Leu11Val)
NM_002755.4(MAP2K1):c.-220CG[4] rs141005341
NM_002755.4(MAP2K1):c.1072C>T (p.His358Tyr) rs1595889532
NM_002755.4(MAP2K1):c.322C>T (p.Arg108Trp) rs1298033161
NM_002755.4(MAP2K1):c.577C>G (p.Pro193Ala) rs1595884713
NM_002755.4(MAP2K1):c.694-12TC[4] rs113913469
NM_002755.4(MAP2K1):c.872G>A (p.Arg291Lys) rs1595886354
NM_002834.5(PTPN11):c.*1006del rs146940557
NM_002834.5(PTPN11):c.*1157ATG[14] rs80269561
NM_002834.5(PTPN11):c.1402A>T (p.Thr468Ser)
NM_002834.5(PTPN11):c.1620C>T (p.His540=) rs587781132
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg) rs397516805
NM_002834.5(PTPN11):c.933+25T>C rs727505386
NM_002880.3(RAF1):c.-415-1C>G rs61730434
NM_004985.5(KRAS):c.451-5600G>C
NM_004985.5(KRAS):c.519T>C (p.Asp173=) rs1137282
NM_005343.4(HRAS):c.257A>C (p.Asn86Thr) rs138272051
NM_005343.4(HRAS):c.451-4C>T rs1589789708
NM_005343.4(HRAS):c.548G>A (p.Ser183Asn)
NM_005633.4(SOS1):c.*1333_*1336dup rs35969619
NM_005633.4(SOS1):c.*1606del rs34248802
NM_005633.4(SOS1):c.*2244_*2245dup rs3832123
NM_005633.4(SOS1):c.*2439del rs377250198
NM_005633.4(SOS1):c.*399_*400insCA rs144104838
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln) rs371314838
NM_005633.4(SOS1):c.1522A>G (p.Asn508Asp)
NM_005633.4(SOS1):c.1663G>A (p.Asp555Asn)
NM_005633.4(SOS1):c.2183A>C (p.Lys728Thr)
NM_005633.4(SOS1):c.2511-13_2511-9del rs727503436
NM_005633.4(SOS1):c.280A>G (p.Ile94Val) rs144757941
NM_005633.4(SOS1):c.3391+7A>G rs201982464
NM_005633.4(SOS1):c.3697C>A (p.Leu1233Ile) rs777373438
NM_005633.4(SOS1):c.3836C>T (p.Thr1279Ile) rs758258471
NM_005633.4(SOS1):c.396A>T (p.Ala132=) rs727505385
NM_005633.4(SOS1):c.749T>C (p.Val250Ala) rs139290271
NM_005633.4(SOS1):c.836T>C (p.Val279Ala)
NM_006270.5(RRAS):c.145T>C (p.Phe49Leu) rs151014532
NM_006270.5(RRAS):c.154-4C>G rs372925843
NM_006270.5(RRAS):c.154-5G>A
NM_006270.5(RRAS):c.174C>T (p.Tyr58=) rs145282813
NM_006270.5(RRAS):c.201G>A (p.Thr67=) rs1421164782
NM_006270.5(RRAS):c.229G>A (p.Ala77Thr)
NM_006270.5(RRAS):c.231C>A (p.Ala77=) rs557964716
NM_006270.5(RRAS):c.241+9G>A
NM_006270.5(RRAS):c.242-8C>T
NM_006270.5(RRAS):c.255G>A (p.Ala85=) rs142801791
NM_006270.5(RRAS):c.324C>T (p.Phe108=)
NM_006270.5(RRAS):c.345-4G>A rs377672475
NM_006270.5(RRAS):c.351C>T (p.Asn117=)
NM_006270.5(RRAS):c.362A>G (p.Lys121Arg) rs138124318
NM_006270.5(RRAS):c.372G>A (p.Thr124=) rs368978550
NM_006270.5(RRAS):c.379C>T (p.Leu127=) rs145907892
NM_006270.5(RRAS):c.37C>A (p.Arg13=) rs1272875791
NM_006270.5(RRAS):c.396C>T (p.Arg132=) rs748366671
NM_006270.5(RRAS):c.408C>G (p.Pro136=)
NM_006270.5(RRAS):c.438G>T (p.Leu146=) rs1599813671
NM_006270.5(RRAS):c.453+7G>A
NM_006270.5(RRAS):c.454-9T>A rs1490597941
NM_006270.5(RRAS):c.454-9T>C rs1490597941
NM_006270.5(RRAS):c.492C>T (p.His164=)
NM_006270.5(RRAS):c.495C>T (p.His165=)
NM_006270.5(RRAS):c.516G>C (p.Ser172=) rs199924228
NM_006270.5(RRAS):c.534C>T (p.Asn178=)
NM_006270.5(RRAS):c.540C>T (p.Asp180=)
NM_006270.5(RRAS):c.543G>A (p.Glu181=)
NM_006270.5(RRAS):c.568G>C (p.Val190Leu) rs2230917
NM_006270.5(RRAS):c.600G>A (p.Pro200=) rs183538580
NM_006270.5(RRAS):c.69C>T (p.Asp23=)
NM_006912.6(RIT1):c.131A>T (p.His44Leu)
NM_006912.6(RIT1):c.313C>T (p.Arg105Cys)
NM_006939.4(SOS2):c.1339C>A (p.Pro447Thr)
NM_006939.4(SOS2):c.2261G>A (p.Ser754Asn) rs181275468
NM_006939.4(SOS2):c.2317G>C (p.Asp773His) rs114711076
NM_006939.4(SOS2):c.3088A>G (p.Thr1030Ala) rs550680554
NM_006939.4(SOS2):c.549G>C (p.Leu183Phe) rs137961578
NM_006939.4(SOS2):c.584G>C (p.Gly195Ala)
NM_006939.4(SOS2):c.709C>A (p.Pro237Thr)
NM_007373.4(SHOC2):c.1207A>G (p.Ser403Gly)
NM_007373.4(SHOC2):c.323C>G (p.Ser108Cys)
NM_007373.4(SHOC2):c.79G>C (p.Glu27Gln)
NM_030662.4(MAP2K2):c.1187C>T (p.Thr396Met) rs117945277
NM_030662.4(MAP2K2):c.149A>G (p.Gln50Arg) rs1599307416
NM_030662.4(MAP2K2):c.325C>G (p.Pro109Ala) rs1060502983
NM_030662.4(MAP2K2):c.640G>A (p.Gly214Arg)
NM_030662.4(MAP2K2):c.643G>T (p.Val215Leu)
NM_033360.4(KRAS):c.*1094G>T rs61763590
NM_033360.4(KRAS):c.*1183G>A rs61763591
NM_033360.4(KRAS):c.*1204A>G rs7960917
NM_033360.4(KRAS):c.*1539_*1541del rs200038818
NM_033360.4(KRAS):c.*1661T>C rs61764366
NM_033360.4(KRAS):c.*1708T>C rs7973450
NM_033360.4(KRAS):c.*1748dup rs71065923
NM_033360.4(KRAS):c.*1758_*1759del rs535478558
NM_033360.4(KRAS):c.*1759A>G rs4597149
NM_033360.4(KRAS):c.*1776C>T rs7973623
NM_033360.4(KRAS):c.*1886T>C rs115968671
NM_033360.4(KRAS):c.*2305A>G rs61764368
NM_033360.4(KRAS):c.*2400dup rs56128001
NM_033360.4(KRAS):c.*2492C>T rs61764369
NM_033360.4(KRAS):c.*2626T>G rs61764370
NM_033360.4(KRAS):c.*298T>G rs712
NM_033360.4(KRAS):c.*3009A>G rs13096
NM_033360.4(KRAS):c.*3273G>A rs61764371
NM_033360.4(KRAS):c.*3385del rs34176876
NM_033360.4(KRAS):c.*3498C>T rs1137188
NM_033360.4(KRAS):c.*3522T>A rs1137189
NM_033360.4(KRAS):c.*3623T>A rs61764372
NM_033360.4(KRAS):c.*3804dup rs142323886
NM_033360.4(KRAS):c.*3881A>C rs1137196
NM_033360.4(KRAS):c.*3907A>G rs8720
NM_033360.4(KRAS):c.*4022A>C rs12587
NM_033360.4(KRAS):c.*4186_*4187del rs34719539
NM_033360.4(KRAS):c.*4200T>A rs12245
NM_033360.4(KRAS):c.*4426_*4427dup rs61764373
NM_033360.4(KRAS):c.*4432A>G rs61764374
NM_033360.4(KRAS):c.*525T>C rs140080026
NM_033360.4(KRAS):c.*633T>C rs9266
NM_033360.4(KRAS):c.*945T>C rs61763589
NM_144670.6(A2ML1):c.2405G>A (p.Arg802His) rs201562272
NM_152594.3(SPRED1):c.1285T>C (p.Cys429Arg)
NM_152594.3(SPRED1):c.282T>G (p.Ile94Met)
NM_152594.3(SPRED1):c.535G>A (p.Glu179Lys)
NM_152594.3(SPRED1):c.997T>G (p.Ser333Ala)

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