List of variants reported as uncertain significance for Noonan syndrome by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 90

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HGVS	dbSNP	gnomAD frequency
NM_006767.4(LZTR1):c.1412G>A (p.Arg471His)	rs139031749	0.00018
NM_005633.4(SOS1):c.3286T>A (p.Ser1096Thr)	rs376722127	0.00017
NM_005633.4(SOS1):c.3347-1G>A	rs141565234	0.00017
NM_005633.4(SOS1):c.3709C>G (p.Pro1237Ala)	rs371408734	0.00016
NM_005633.4(SOS1):c.3706C>A (p.Pro1236Thr)	rs727504636	0.00014
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys)	rs370242565	0.00013
NM_005633.4(SOS1):c.3418T>A (p.Leu1140Ile)	rs375550588	0.00010
NM_006767.4(LZTR1):c.2306C>T (p.Thr769Met)	rs531211534	0.00010
NM_006939.4(SOS2):c.1868G>A (p.Arg623His)	rs138459515	0.00010
NM_006939.4(SOS2):c.3289T>C (p.Ser1097Pro)	rs141214900	0.00010
NM_005633.4(SOS1):c.3729C>G (p.Asp1243Glu)	rs730881026	0.00007
NM_006767.4(LZTR1):c.1855C>T (p.Arg619Cys)	rs373488966	0.00007
NM_006767.4(LZTR1):c.373G>A (p.Val125Ile)	rs775434314	0.00007
NM_006767.4(LZTR1):c.1852G>A (p.Glu618Lys)	rs766345180	0.00006
NM_006767.4(LZTR1):c.2089C>T (p.Arg697Trp)	rs751516987	0.00006
NM_006767.4(LZTR1):c.946G>A (p.Val316Met)	rs370315661	0.00006
NM_012250.6(RRAS2):c.440G>A (p.Arg147Gln)	rs377321245	0.00006
NM_005633.4(SOS1):c.2312T>C (p.Ile771Thr)	rs557328600	0.00005
NM_005633.4(SOS1):c.3387C>T (p.Gly1129=)	rs772823827	0.00005
NM_006767.4(LZTR1):c.710G>A (p.Arg237Gln)	rs773696598	0.00005
NM_006767.4(LZTR1):c.988A>G (p.Ser330Gly)	rs777443417	0.00005
NM_004333.6(BRAF):c.995C>T (p.Thr332Ile)	rs1008080053	0.00004
NM_005633.4(SOS1):c.3350A>G (p.Asn1117Ser)	rs754314057	0.00004
NM_006270.5(RRAS):c.64G>T (p.Gly22Trp)	rs754976061	0.00003
NM_006939.4(SOS2):c.1264G>A (p.Glu422Lys)	rs375244948	0.00003
NM_030662.4(MAP2K2):c.938G>A (p.Arg313Gln)	rs151133017	0.00003
NM_002834.5(PTPN11):c.461G>C (p.Gly154Ala)	rs376027245	0.00002
NM_005633.4(SOS1):c.1750G>A (p.Glu584Lys)	rs771878514	0.00002
NM_005633.4(SOS1):c.755T>C (p.Ile252Thr)	rs142094234	0.00002
NM_006767.4(LZTR1):c.1141G>C (p.Ala381Pro)	rs1224523480	0.00002
NM_006767.4(LZTR1):c.2263C>T (p.Arg755Trp)	rs141161152	0.00002
NM_006912.6(RIT1):c.367C>T (p.Arg123Cys)	rs1213963509	0.00002
NM_006939.4(SOS2):c.3403A>G (p.Ser1135Gly)	rs375478974	0.00002
NM_002834.5(PTPN11):c.860A>C (p.His287Pro)	rs2038527071	0.00001
NM_002834.5(PTPN11):c.940T>C (p.Phe314Leu)	rs968167995	0.00001
NM_002880.4(RAF1):c.1901T>C (p.Ile634Thr)	rs1013186582	0.00001
NM_002880.4(RAF1):c.31A>T (p.Ile11Phe)	rs779001930	0.00001
NM_004333.6(BRAF):c.254A>G (p.Tyr85Cys)	rs1131691387	0.00001
NM_005633.4(SOS1):c.1674G>A (p.Met558Ile)	rs753055115	0.00001
NM_005633.4(SOS1):c.2973T>G (p.Phe991Leu)	rs751274973	0.00001
NM_005633.4(SOS1):c.3317A>G (p.Asp1106Gly)	rs1406906239	0.00001
NM_005633.4(SOS1):c.3707C>T (p.Pro1236Leu)	rs533661246	0.00001
NM_005633.4(SOS1):c.571G>A (p.Glu191Lys)	rs886041241	0.00001
NM_005633.4(SOS1):c.754A>C (p.Ile252Leu)	rs1158811958	0.00001
NM_005633.4(SOS1):c.800T>C (p.Val267Ala)	rs748234666	0.00001
NM_006270.5(RRAS):c.167C>G (p.Ser56Cys)	rs537601977	0.00001
NM_006767.4(LZTR1):c.1354-5T>A	rs368421766	0.00001
NM_006767.4(LZTR1):c.1689G>A (p.Glu563=)	rs977829129	0.00001
NM_006767.4(LZTR1):c.1750G>A (p.Glu584Lys)	rs369697241	0.00001
NM_006767.4(LZTR1):c.2220-14T>C	rs763822752	0.00001
NM_006912.6(RIT1):c.140C>T (p.Pro47Leu)	rs747376042	0.00001
NM_006912.6(RIT1):c.532C>G (p.Leu178Val)	rs730881013	0.00001
NM_006939.4(SOS2):c.1973A>G (p.Lys658Arg)	rs1317956888	0.00001
NM_030662.4(MAP2K2):c.46C>A (p.Pro16Thr)	rs904859028	0.00001
NC_000002.11:g.39263079_(39347604_?)dup
NM_002524.5(NRAS):c.368G>A (p.Arg123Lys)	rs727503347
NM_002834.5(PTPN11):c.15-4del	rs1223869705
NM_002880.4(RAF1):c.176G>A (p.Arg59His)	rs1559447623
NM_002880.4(RAF1):c.226A>G (p.Met76Val)	rs730880999
NM_004333.6(BRAF):c.1795A>G (p.Thr599Ala)
NM_004333.6(BRAF):c.1858A>G (p.Met620Val)	rs1296245849
NM_004333.6(BRAF):c.2075T>C (p.Leu692Ser)	rs55715359
NM_004333.6(BRAF):c.66C>G (p.Asp22Glu)	rs543953468
NM_005633.4(SOS1):c.1698G>C (p.Gln566His)	rs1313575751
NM_005633.4(SOS1):c.2153T>C (p.Ile718Thr)	rs1040115639
NM_005633.4(SOS1):c.3241A>C (p.Asn1081His)
NM_005633.4(SOS1):c.3391+3_3391+6del	rs756201866
NM_005633.4(SOS1):c.3485C>T (p.Ala1162Val)	rs1022820895
NM_005633.4(SOS1):c.3793_3795del (p.Ser1265del)
NM_005633.4(SOS1):c.38A>G (p.Glu13Gly)	rs2148243276
NM_005633.4(SOS1):c.4C>A (p.Gln2Lys)	rs587781174
NM_005633.4(SOS1):c.720+1G>A	rs2465346587
NM_006270.5(RRAS):c.472_473insTT (p.Ser158fs)	rs760978291
NM_006270.5(RRAS):c.563G>A (p.Arg188Gln)	rs374621936
NM_006767.4(LZTR1):c.1215C>T (p.Gly405=)
NM_006767.4(LZTR1):c.1685_1702dup (p.Arg567_Gln568insLeuGluGlnLeuCysArg)	rs1924752851
NM_006767.4(LZTR1):c.2090G>A (p.Arg697Gln)	rs370638947
NM_006767.4(LZTR1):c.22G>C (p.Gly8Arg)	rs575193991
NM_006767.4(LZTR1):c.26G>C (p.Gly9Ala)	rs756485244
NM_006767.4(LZTR1):c.507A>T (p.Gly169=)
NM_006767.4(LZTR1):c.808A>G (p.Thr270Ala)	rs2518616941
NM_006939.4(SOS2):c.1209C>A (p.Cys403Ter)	rs1884944730
NM_006939.4(SOS2):c.1516T>C (p.Cys506Arg)	rs1884936986
NM_006939.4(SOS2):c.2182G>A (p.Val728Ile)	rs2139595594
NM_006939.4(SOS2):c.2668-7_2668-3del
NM_006939.4(SOS2):c.3604A>G (p.Ser1202Gly)	rs1272391524
NM_006939.4(SOS2):c.3965T>C (p.Leu1322Pro)	rs2502753477
NM_007373.4(SHOC2):c.1741A>G (p.Met581Val)	rs1470655019
NM_030662.4(MAP2K2):c.523A>G (p.Ile175Val)	rs373325880
NM_033360.4(KRAS):c.101_106del	rs1339924833

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