ClinVar Miner

List of variants reported as likely benign for Noonan syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 114
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HGVS dbSNP
NM_002524.4(NRAS):c.*2510_*2515delTAGTTA rs549171175
NM_002524.4(NRAS):c.*2662G>A rs148827219
NM_002524.4(NRAS):c.*2667T>C rs145382662
NM_002524.4(NRAS):c.*2965delT rs61652108
NM_002524.4(NRAS):c.*3219C>G rs72994441
NM_002524.4(NRAS):c.*3366G>T rs72994440
NM_002524.4(NRAS):c.*3384C>T rs140049110
NM_002524.4(NRAS):c.*346G>A rs9724642
NM_002524.4(NRAS):c.*3499C>T rs147926293
NM_002524.4(NRAS):c.*416A>C rs9724643
NM_002524.4(NRAS):c.*740G>A rs372008962
NM_002524.4(NRAS):c.*872C>T rs14804
NM_002524.4(NRAS):c.-208T>A rs2273267
NM_002755.3(MAP2K1):c.*308C>A rs14303
NM_002755.3(MAP2K1):c.*425G>T rs56366941
NM_002755.3(MAP2K1):c.*657G>A rs8684
NM_002755.3(MAP2K1):c.-216_-215dupCG rs141005341
NM_002755.3(MAP2K1):c.-2A>G rs77796976
NM_002755.3(MAP2K1):c.-31dupC rs730880340
NM_002755.3(MAP2K1):c.-408G>T rs536414539
NM_002755.3(MAP2K1):c.-448C>T rs73469977
NM_002755.3(MAP2K1):c.-85G>C rs112542693
NM_002755.3(MAP2K1):c.1023-8C>T rs41306345
NM_002755.3(MAP2K1):c.694-8_694-7dup rs113913469
NM_002755.3(MAP2K1):c.927A>T (p.Ala309=) rs146869577
NM_002834.4(PTPN11):c.*1006del rs146940557
NM_002834.4(PTPN11):c.*1199_*1201del rs80269561
NM_002834.4(PTPN11):c.*1374G>C rs139266170
NM_002834.4(PTPN11):c.*2927T>A rs190612693
NM_002834.4(PTPN11):c.*670G>A rs112287134
NM_002834.4(PTPN11):c.-273G>A rs58805176
NM_002834.4(PTPN11):c.1093-9C>A rs12301915
NM_002834.4(PTPN11):c.255C>T (p.His85=) rs61736914
NM_002880.3(RAF1):c.*160C>T rs5746246
NM_002880.3(RAF1):c.*266C>T rs1051208
NM_002880.3(RAF1):c.*348T>C rs5746247
NM_002880.3(RAF1):c.*83C>T rs2229757
NM_002880.3(RAF1):c.-281C>G rs61761285
NM_002880.3(RAF1):c.-416C>G rs61730434
NM_002880.3(RAF1):c.1669-13T>C rs147475396
NM_002880.3(RAF1):c.1755A>G (p.Val585=) rs3730296
NM_002880.3(RAF1):c.1914G>A (p.Thr638=) rs144876026
NM_002880.3(RAF1):c.321-14T>A rs3730270
NM_002880.3(RAF1):c.321-14dupT rs202103447
NM_002880.3(RAF1):c.923C>T (p.Pro308Leu) rs5746220
NM_004333.4(BRAF):c.*387G>A rs114105685
NM_004333.4(BRAF):c.-19C>T rs71645935
NM_004333.4(BRAF):c.2128-5delT rs373442098
NM_004333.5(BRAF):c.*111C>T rs539860876
NM_004333.5(BRAF):c.-5A>G rs71645936
NM_004333.5(BRAF):c.1024A>G (p.Ile342Val) rs201481342
NM_004333.5(BRAF):c.1068A>G (p.Gln356=) rs143335467
NM_004333.5(BRAF):c.1227A>G (p.Ser409=) rs145035762
NM_004333.5(BRAF):c.1332G>A (p.Arg444=) rs56101602
NM_004333.5(BRAF):c.1383A>G (p.Gln461=) rs56216404
NM_004333.5(BRAF):c.1694+14G>A rs184144181
NM_004333.5(BRAF):c.2235A>G (p.Leu745=) rs56046546
NM_004333.5(BRAF):c.36G>A (p.Ala12=) rs397507454
NM_004333.5(BRAF):c.375T>G (p.Ser125=) rs201507202
NM_004333.5(BRAF):c.708C>T (p.Asn236=) rs138333692
NM_004333.5(BRAF):c.78G>T (p.Glu26Asp) rs371877084
NM_004985.4(KRAS):c.*1062G>A rs61763591
NM_004985.4(KRAS):c.*1083A>G rs7960917
NM_004985.4(KRAS):c.*1418_*1420delAAA rs200038818
NM_004985.4(KRAS):c.*1540T>C rs61764366
NM_004985.4(KRAS):c.*1587T>C rs7973450
NM_004985.4(KRAS):c.*1627dup rs71065923
NM_004985.4(KRAS):c.*1637_*1638delTA rs535478558
NM_004985.4(KRAS):c.*1638A>G rs4597149
NM_004985.4(KRAS):c.*1655C>T rs7973623
NM_004985.4(KRAS):c.*1765T>C rs115968671
NM_004985.4(KRAS):c.*177T>G rs712
NM_004985.4(KRAS):c.*2184A>G rs61764368
NM_004985.4(KRAS):c.*2279dup rs56128001
NM_004985.4(KRAS):c.*2371C>T rs61764369
NM_004985.4(KRAS):c.*2505T>G rs61764370
NM_004985.4(KRAS):c.*2888A>G rs13096
NM_004985.4(KRAS):c.*3152G>A rs61764371
NM_004985.4(KRAS):c.*3264delT rs34176876
NM_004985.4(KRAS):c.*3377C>T rs1137188
NM_004985.4(KRAS):c.*3401T>A rs1137189
NM_004985.4(KRAS):c.*3502T>A rs61764372
NM_004985.4(KRAS):c.*3683dup rs142323886
NM_004985.4(KRAS):c.*3760A>C rs1137196
NM_004985.4(KRAS):c.*3786A>G rs8720
NM_004985.4(KRAS):c.*3901A>C rs12587
NM_004985.4(KRAS):c.*404T>C rs140080026
NM_004985.4(KRAS):c.*4065_*4066delAA rs34719539
NM_004985.4(KRAS):c.*4079T>A rs12245
NM_004985.4(KRAS):c.*4305_*4306dup rs61764373
NM_004985.4(KRAS):c.*4311A>G rs61764374
NM_004985.4(KRAS):c.*512T>C rs9266
NM_004985.4(KRAS):c.*824T>C rs61763589
NM_004985.4(KRAS):c.*973G>T rs61763590
NM_004985.4(KRAS):c.451-9G>A rs12313763
NM_004985.4(KRAS):c.519T>C (p.Asp173=) rs1137282
NM_005633.3(SOS1):c.*1333_*1336dupAAGT rs35969619
NM_005633.3(SOS1):c.*1606delT rs34248802
NM_005633.3(SOS1):c.*1731A>G rs79270739
NM_005633.3(SOS1):c.*1844A>G rs10166395
NM_005633.3(SOS1):c.*2244_*2245dupTA rs3832123
NM_005633.3(SOS1):c.*2439delA rs377250198
NM_005633.3(SOS1):c.*2567T>A rs6704656
NM_005633.3(SOS1):c.*328A>G rs1059310
NM_005633.3(SOS1):c.*3539T>C rs1037495
NM_005633.3(SOS1):c.*3592C>T rs550315455
NM_005633.3(SOS1):c.*3724T>C rs11124658
NM_005633.3(SOS1):c.*3918T>C rs1043793
NM_005633.3(SOS1):c.*399_*400insCA rs144104838
NM_005633.3(SOS1):c.*805C>A rs1059313
NM_005633.3(SOS1):c.1074+5G>C rs145155424
NM_005633.3(SOS1):c.1230G>A (p.Gln410=) rs141390073
NM_005633.3(SOS1):c.195A>C (p.Arg65=) rs7609455
NM_005633.3(SOS1):c.2122G>A (p.Ala708Thr) rs140811086

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