ClinVar Miner

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

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 188
Download table as spreadsheet
HGVS dbSNP
NM_000267.3(NF1):c.*1164G>A rs140110377
NM_000267.3(NF1):c.*125del rs397754615
NM_000267.3(NF1):c.*2089G>A rs17881973
NM_000267.3(NF1):c.*2201G>A rs7406983
NM_000267.3(NF1):c.*2215_*2219del rs201032889
NM_000267.3(NF1):c.*2829T>C rs1048317
NM_000267.3(NF1):c.*498T>G rs9900729
NM_000267.3(NF1):c.*4T>C rs201044568
NM_000267.3(NF1):c.*871A>T rs568276164
NM_000267.3(NF1):c.*873A>T rs3058624
NM_000267.3(NF1):c.-22G>C rs556823296
NM_000267.3(NF1):c.168C>T (p.Ser56=) rs17881168
NM_000267.3(NF1):c.1933A>G (p.Met645Val) rs146051850
NM_000267.3(NF1):c.2034G>A (p.Pro678=) rs2285892
NM_000267.3(NF1):c.2544G>A (p.Gly848=) rs17883704
NM_000267.3(NF1):c.340C>T (p.Leu114=) rs7207410
NM_000267.3(NF1):c.369C>G (p.Thr123=) rs146691765
NM_000267.3(NF1):c.4819T>C (p.Leu1607=) rs10512435
NM_000267.3(NF1):c.4866G>A (p.Val1622=) rs17880521
NM_000267.3(NF1):c.4972A>G (p.Ile1658Val) rs147327414
NM_000267.3(NF1):c.528T>A (p.Asp176Glu) rs112306990
NM_000267.3(NF1):c.61-4delT rs551568608
NM_000267.3(NF1):c.6330C>T (p.His2110=) rs17881788
NM_000267.3(NF1):c.702G>A (p.Leu234=) rs1801052
NM_000267.3(NF1):c.7692C>T (p.Ser2564=) rs17881980
NM_000267.3(NF1):c.8088G>A (p.Pro2696=) rs2285895
NM_000267.3(NF1):c.846G>A (p.Gln282=) rs138840528
NM_002524.4(NRAS):c.-208T>A rs2273267
NM_002524.5(NRAS):c.*2510_*2515del rs549171175
NM_002524.5(NRAS):c.*2662G>A rs148827219
NM_002524.5(NRAS):c.*2667T>C rs145382662
NM_002524.5(NRAS):c.*2965del rs61652108
NM_002524.5(NRAS):c.*3219C>G rs72994441
NM_002524.5(NRAS):c.*3366G>T rs72994440
NM_002524.5(NRAS):c.*3384C>T rs140049110
NM_002524.5(NRAS):c.*346G>A rs9724642
NM_002524.5(NRAS):c.*3499C>T rs147926293
NM_002524.5(NRAS):c.*416A>C rs9724643
NM_002524.5(NRAS):c.*740G>A rs372008962
NM_002524.5(NRAS):c.*872C>T rs14804
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.694-12TC[4] rs113913469
NM_002755.3(MAP2K1):c.927A>T (p.Ala309=) rs146869577
NM_002834.4(PTPN11):c.*1006del rs146940557
NM_002834.4(PTPN11):c.*1157_*1159ATG[14] 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.-415-1C>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.321-21dup rs202103447
NM_002880.3(RAF1):c.923C>T (p.Pro308Leu) rs5746220
NM_004333.6(BRAF):c.*111C>T rs539860876
NM_004333.6(BRAF):c.*387G>A rs114105685
NM_004333.6(BRAF):c.-19C>T rs71645935
NM_004333.6(BRAF):c.-5A>G rs71645936
NM_004333.6(BRAF):c.1024A>G (p.Ile342Val) rs201481342
NM_004333.6(BRAF):c.1068A>G (p.Gln356=) rs143335467
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.1694+14G>A rs184144181
NM_004333.6(BRAF):c.2128-5del rs373442098
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.708C>T (p.Asn236=) rs138333692
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084
NM_004985.5(KRAS):c.*1062G>A rs61763591
NM_004985.5(KRAS):c.*1083A>G rs7960917
NM_004985.5(KRAS):c.*1418_*1420del rs200038818
NM_004985.5(KRAS):c.*1540T>C rs61764366
NM_004985.5(KRAS):c.*1587T>C rs7973450
NM_004985.5(KRAS):c.*1627dup rs71065923
NM_004985.5(KRAS):c.*1637_*1638del rs535478558
NM_004985.5(KRAS):c.*1638A>G rs4597149
NM_004985.5(KRAS):c.*1655C>T rs7973623
NM_004985.5(KRAS):c.*1765T>C rs115968671
NM_004985.5(KRAS):c.*177T>G rs712
NM_004985.5(KRAS):c.*2184A>G rs61764368
NM_004985.5(KRAS):c.*2279dup rs56128001
NM_004985.5(KRAS):c.*2371C>T rs61764369
NM_004985.5(KRAS):c.*2505T>G rs61764370
NM_004985.5(KRAS):c.*2888A>G rs13096
NM_004985.5(KRAS):c.*3152G>A rs61764371
NM_004985.5(KRAS):c.*3264del rs34176876
NM_004985.5(KRAS):c.*3377C>T rs1137188
NM_004985.5(KRAS):c.*3401T>A rs1137189
NM_004985.5(KRAS):c.*3502T>A rs61764372
NM_004985.5(KRAS):c.*3683dup rs142323886
NM_004985.5(KRAS):c.*3760A>C rs1137196
NM_004985.5(KRAS):c.*3786A>G rs8720
NM_004985.5(KRAS):c.*3901A>C rs12587
NM_004985.5(KRAS):c.*404T>C rs140080026
NM_004985.5(KRAS):c.*4065_*4066del rs34719539
NM_004985.5(KRAS):c.*4079T>A rs12245
NM_004985.5(KRAS):c.*4305_*4306dup rs61764373
NM_004985.5(KRAS):c.*4311A>G rs61764374
NM_004985.5(KRAS):c.*512T>C rs9266
NM_004985.5(KRAS):c.*824T>C rs61763589
NM_004985.5(KRAS):c.*973G>T rs61763590
NM_004985.5(KRAS):c.451-9G>A rs12313763
NM_004985.5(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
NM_006049.4(SNAPC5):c.22-206G>T rs14303
NM_006049.4(SNAPC5):c.22-323C>A rs56366941
NM_006049.4(SNAPC5):c.22-555C>T rs8684
NM_007373.3(SHOC2):c.*1062dupG rs530047047
NM_007373.3(SHOC2):c.*1106A>C rs118172559
NM_007373.3(SHOC2):c.*1324G>A rs559572636
NM_007373.3(SHOC2):c.*1483G>A rs180979375
NM_007373.3(SHOC2):c.*164T>A rs191293913
NM_007373.3(SHOC2):c.*1775T>C rs535776105
NM_007373.3(SHOC2):c.*1775delT rs527775221
NM_007373.3(SHOC2):c.*3T>C rs143187497
NM_007373.3(SHOC2):c.*506_*509delTTTT rs371679867
NM_007373.3(SHOC2):c.*697C>T rs189140753
NM_007373.3(SHOC2):c.*773G>A rs114628508
NM_007373.3(SHOC2):c.*914G>A rs189223963
NM_007373.3(SHOC2):c.-159T>C rs72819758
NM_007373.3(SHOC2):c.-179T>A rs143180451
NM_007373.3(SHOC2):c.1161+9A>G rs201795589
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.610A>G (p.Ile204Val) rs200015085
NM_007373.3(SHOC2):c.703+24_703+26delATT rs370351651
NM_152594.3(SPRED1):c.*1040G>A rs115568221
NM_152594.3(SPRED1):c.*1659_*1662del rs57589132
NM_152594.3(SPRED1):c.*1724A>C rs1554527
NM_152594.3(SPRED1):c.*248T>C rs16966842
NM_152594.3(SPRED1):c.*256C>T rs145373657
NM_152594.3(SPRED1):c.*2831G>A rs35490364
NM_152594.3(SPRED1):c.*2885G>A rs79309779
NM_152594.3(SPRED1):c.*3057A>G rs72725362
NM_152594.3(SPRED1):c.*3521A>G rs11634702
NM_152594.3(SPRED1):c.*3591C>T rs147489619
NM_152594.3(SPRED1):c.*3623G>T rs148525432
NM_152594.3(SPRED1):c.*3698T>G rs76527876
NM_152594.3(SPRED1):c.*3830G>A rs8039150
NM_152594.3(SPRED1):c.*3946G>A rs8039337
NM_152594.3(SPRED1):c.*3996G>A rs72725364
NM_152594.3(SPRED1):c.*427A>T rs185290497
NM_152594.3(SPRED1):c.*4662T>A rs10852019
NM_152594.3(SPRED1):c.*4932A>G rs16966843
NM_152594.3(SPRED1):c.*5090dup rs141174183
NM_152594.3(SPRED1):c.*5110C>T rs8026118
NM_152594.3(SPRED1):c.-156del rs531519324
NM_152594.3(SPRED1):c.-244T>C rs138385793
NM_152594.3(SPRED1):c.-93C>T rs192699510
NM_152594.3(SPRED1):c.1044T>C (p.Val348=) rs3751526
NM_152594.3(SPRED1):c.291G>A (p.Lys97=) rs7182445
NM_152594.3(SPRED1):c.424-8C>A rs7180446
NM_152594.3(SPRED1):c.583-7A>G rs115970207

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.