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Did you mean MAP2K1 as a gene symbol? Search ClinVar for MAP2K1

See MAP2K1 mitogen-activated protein kinase kinase 1 in the Gene database

Search results

Items: 1 to 100 of 370

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr15:60120659-102461201
GRCh38:
Chr15:59828460-101920998
SCAPER, SCARNA14, SCARNA15, SEC11A, SELENOS, SEMA4B, SEMA7A, SENP8, SH2D7, SH3GL3, SIN3A, SKOR1, SLC24A1, SLC28A1, SLC51B, SLCO3A1, SMAD3, SMAD6, SNAPC5, SNHG21, SNORA24B, SNORD13E, SNORD16, SNORD18A, SNORD18B, SNORD18C, SNRPA1, SNRPA1-DT, SNUPN, SNX1, SNX22, SNX33, SPATA41, SPATA8, SPATA8-AS1, SPESP1, SPG21, ST20, ST20-AS1, ST20-MTHFS, ST8SIA2, STARD5, STOML1, STRA6, SV2B, SYNM, SYNM-AS1, TARS3, TBC1D21, TBC1D2B, THAP10, THSD4, THSD4-AS1, THSD4-AS2, TICRR, TIPIN, TLE3, TLN2, TLNRD1, TM2D3, TM6SF1, TMC3, TMC3-AS1, TMED3, TMEM202, TMEM202-AS1, TMEM266, TPM1, TPM1-AS, TRC-GCA5-1, TRIP4, TRK-CTT1-2, TRQ-CTG1-4, TRR-TCG1-1, TSPAN3, TTC23, TTLL13, UACA, UBAP1L, UBE2Q2, UBL7, UBL7-DT, ULK3, UNC45A, USP3, USP3-AS1, VPS13C, VPS13C-DT, VPS33B, VPS33B-DT, WDR61, WDR73, WDR93, WHAMM, ZFAND6, ZNF592, ZNF609, ZNF710, ZNF710-AS1, ZNF774, ZSCAN2, ZWILCH, AAGAB, ABHD17C, ABHD2, ACAN, ACSBG1, ADAMTS17, ADAMTS7, ADAMTSL3, ADPGK, ADPGK-AS1, AEN, AGBL1, AGBL1-AS1, AKAP13, ALDH1A3, ALDH1A3-AS1, ALPK3, ANKDD1A, ANKRD34C, ANKRD34C-AS1, ANP32A, ANP32A-IT1, ANPEP, ANXA2, AP3B2, AP3S2, APH1B, ARID3B, ARIH1, ARNT2, ARNT2-DT, ARPIN, ARPIN-AP3S2, ARRDC4, ASB7, BBS4, BCL2A1, BLM, BNC1, BTBD1, C15orf32, C15orf39, C15orf40, C15orf61, C2CD4A, C2CD4B, CA12, CALML4, CARMAL, CCDC33, CD276, CELF6, CEMIP, CERS3, CERS3-AS1, CFAP161, CHASERR, CHD2, CHRNA3, CHRNA5, CHRNB4, CHSY1, CIAO2A, CIB1, CIB2, CILP, CLK3, CLN6, CLPX, COMMD4, CORO2B, COX5A, CPEB1, CPEB1-AS1, CPLX3, CRABP1, CRAT37, CRTC3, CRTC3-AS1, CSK, CSNK1G1, CSPG4, CT62, CTSH, CTXND1, CYP11A1, CYP1A1, CYP1A2, DAPK2, DENND4A, DET1, DIS3L, DIS3L-AS1, DNAJA4, DNAJA4-DT, DPP8, DRAIC, EDC3, EFL1, ETFA, EWSAT1, FAH, FAM174B, FAM219B, FANCI, FBXL22, FBXO22, FBXO22-AS1, FEM1B, FES, FOXB1, FSD2, FURIN, GCAWKR, GDPGP1, GLCE, GOLGA6A, GOLGA6B, GOLGA6C, GOLGA6D, GOLGA6L10, GOLGA6L4, GOLGA6L9, GRAMD2A, HACD3, HAPLN3, HCN4, HDDC3, HDGFL3, HERC1, HEXA, HEXA-AS1, HIGD2B, HMG20A, HOMER2, HYKK, ICE2, IDH2, IDH2-DT, IDH3A, IGDCC3, IGDCC4, IGF1R, IL16, IMP3, INSYN1, INSYN1-AS1, INTS14, IQCH, IQCH-AS1, IQGAP1, IRAIN, IREB2, ISG20, ISL2, ISLR, ISLR2, ITGA11, KBTBD13, KIF23, KIF23-AS1, KIF7, KLHL25, LACTB, LARP6, LCTL, LETR1, LINC00052, LINC00593, LINC00597, LINC00923, LINC00924, LINC00927, LINC00928, LINC00930, LINC00933, LINC01169, LINC01579, LINC01580, LINC01581, LINC01582, LINC01583, LINC01584, LINC01585, LINC01586, LINC02204, LINC02205, LINC02206, LINC02207, LINC02244, LINC02251, LINC02253, LINC02254, LINC02255, LINC02259, LINC02348, LINC02349, LINC02351, LINC02568, LINC02883, LINGO1, LINGO1-AS1, LINGO1-AS2, LINS1, LMAN1L, LOC100128979, LOC100129540, LOC100507472, LOC101927310, LOC101928988, LOC101929076, LOC101929439, LOC101929457, LOC101929586, LOC102723335, LOC102723493, LOC102724034, LOC102724452, LOC103171574, LOC104613533, LOC105369212, LOC105370954, LOC105370980, LOC105371031, LOC107984784, LOC107988046, LOC107992387, LOC108251791, LOC108281191, LOC108964933, LOC110120860, LOC110120861, LOC110120917, LOC110121345, LOC110121383, LOC110121430, LOC110121464, LOC110121491, LOC110121492, LOC110467515, LOC110467516, LOC110467517, LOC111365216, LOC111413015, LOC111413032, LOC111413043, LOC111562369, LOC111718493, LOC111822949, LOC112272574, LOC112272602, LOC112272603, LOC112272604, LOC112272605, LOC112272606, LOC112272607, LOC112272608, LOC112272609, LOC112272610, LOC112272613, LOC112272614, LOC112272615, LOC112272616, LOC112272617, LOC112272618, LOC112272619, LOC112272620, LOC112272621, LOC112272622, LOC112272623, LOC112296173, LOC112296174, LOC112296175, LOC112296176, LOC112296177, LOC112296178, LOC113939942, LOC113939945, LOC113939946, LOC113939947, LOC114827858, LOC116268467, LOC116268468, LOC116268469, LOC116268470, LOC116268471, LOC116268472, LOC116268473, LOC116268474, LOC116268475, LOC116268476, LOC116268477, LOC116268478, LOC116268479, LOC117204000, LOC117204001, LOC120285840, LOC121530585, LOC121530586, LOC121530587, LOC121530588, LOC121530589, LOC121530590, LOC121530591, LOC121530592, LOC121530593, LOC121530594, LOC121530595, LOC121530596, LOC121530597, LOC121530598, LOC121530599, LOC121530600, LOC121530601, LOC121530602, LOC121530603, LOC121530604, LOC121530605, LOC121847953, LOC121847954, LOC121847955, LOC121847956, LOC121847957, LOC121847958, LOC121847959, LOC121847960, LOC121847961, LOC121847962, LOC121847963, LOC121847964, LOC121847965, LOC121847966, LOC283731, LOC91450, LOXL1, LOXL1-AS1, LRRC28, LRRC49, LRRK1, LUNAR1, LYSMD4, MAN2A2, MAN2C1, MAP2K1, MAP2K5, MCTP2, MEF2A, MEGF11, MESD, MESP1, MESP2, MEX3B, MFGE8, MGC15885, MINAR1, MIR11181, MIR1179, MIR12135, MIR1272, MIR1276, MIR1469, MIR184, MIR190A, MIR3174, MIR3175, MIR3529, MIR3713, MIR422A, MIR4311, MIR4312, MIR4313, MIR4511, MIR4512, MIR4513, MIR4514, MIR4515, MIR4714, MIR5009, MIR5094, MIR548AP, MIR549A, MIR5572, MIR6085, MIR629, MIR630, MIR631, MIR6766, MIR6881, MIR6882, MIR7-2, MIR7706, MIR8067, MIR9-3, MIR9-3HG, MORF4L1, MPI, MRPL46, MRPS11, MTFMT, MTHFS, MYO9A, NEIL1, NEO1, NGRN, NMB, NOX5, NPTN, NPTN-IT1, NR2E3, NR2F2, NR2F2-AS1, NRG4, NTRK3, NTRK3-AS1, OAZ2, ODF3L1, OR4F15, OR4F6, PAQR5, PAQR5-DT, PARP16, PARP6, PCAT29, PCLAF, PCSK6, PCSK6-AS1, PDCD7, PDE8A, PEAK1, PEX11A, PGPEP1L, PIAS1, PIF1, PIRC76, PKM, PLEKHO2, PLIN1, PML, POLG, PPCDC, PPIB, PRC1, PRC1-AS1, PSMA4, PSTPIP1, PTPN9, RAB11A, RAB8B, RAMAC, RASGRF1, RASL12, RBPMS2, RCCD1, RCCD1-AS1, RCN2, REC114, RGMA, RHCG, RLBP1, RNU5A-1, RNU5B-1, RNU6-1, RORA, RORA-AS1, RORA-AS2, RPL4, RPLP1, RPP25, RPS17, RPS27L, SALRNA2, SALRNA3, SAXO2, SCAMP2, SCAMP5
See casesPathogenic
(Oct 24, 2012)
no assertion criteria providedVCV000154848
2.
GRCh37:
Chr15:66678919
GRCh38:
Chr15:66386581
MAP2K1, TIPINnot providedBenign
(Jun 19, 2018)
criteria provided, single submitterVCV000561817
3.
GRCh37:
Chr15:66678991
GRCh38:
Chr15:66386653
MAP2K1, TIPINnot providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000561873
4.
GRCh37:
Chr15:66679055
GRCh38:
Chr15:66386717
MAP2K1, TIPINnot providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000561875
5.
GRCh37:
Chr15:66679139
GRCh38:
Chr15:66386801
MAP2K1not providedLikely benign
(Jun 16, 2018)
criteria provided, single submitterVCV000561386
6.
GRCh37:
Chr15:66679238
GRCh38:
Chr15:66386900
MAP2K1not providedLikely benign
(Jul 31, 2018)
criteria provided, single submitterVCV000316831
7.
GRCh37:
Chr15:66679464-66679465
GRCh38:
Chr15:66387126-66387127
MAP2K1not provided, Cardio-facio-cutaneous syndrome, Noonan syndrome
Likely benign
(Oct 16, 2018)
criteria provided, multiple submitters, no conflictsVCV000316834
8.
GRCh37:
Chr15:66679574-66679575
GRCh38:
Chr15:66387236-66387237
MAP2K1not providedLikely benign
(Nov 15, 2018)
criteria provided, single submitterVCV001189560
9.
GRCh37:
Chr15:66679601
GRCh38:
Chr15:66387263
MAP2K1not providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001286889
10.
GRCh37:
Chr15:66679643
GRCh38:
Chr15:66387305
MAP2K1not providedLikely benign
(Feb 7, 2021)
criteria provided, single submitterVCV001321004
11.
GRCh37:
Chr15:66679649-66679650
GRCh38:
Chr15:66387311-66387312
MAP2K1not specifiedBenign
(Apr 15, 2014)
criteria provided, multiple submitters, no conflictsVCV000040710
12.
GRCh37:
Chr15:66679684
GRCh38:
Chr15:66387346
MAP2K1Noonan syndrome and Noonan-related syndrome, not specified, not provided
Benign
(Jul 7, 2021)
criteria provided, multiple submitters, no conflictsVCV000040738
13.
GRCh37:
Chr15:66679691
GRCh38:
Chr15:66387353
MAP2K1Noonan syndrome and Noonan-related syndrome, not specified, not provided,
RASopathy
Benign/Likely benign
(Oct 14, 2021)
criteria provided, multiple submitters, no conflictsVCV000040739
14.
GRCh37:
Chr15:66679696
GRCh38:
Chr15:66387358
MAP2K1K4Rnot providedUncertain significance
(Mar 27, 2017)
criteria provided, single submitterVCV000496174
15.
GRCh37:
Chr15:66679697
GRCh38:
Chr15:66387359
MAP2K1RASopathyLikely benign
(Sep 18, 2021)
criteria provided, single submitterVCV000705062
16.
GRCh37:
Chr15:66679700
GRCh38:
Chr15:66387362
MAP2K1not specifiedLikely benign
(Feb 12, 2022)
criteria provided, single submitterVCV001343560
17.
GRCh37:
Chr15:66679714
GRCh38:
Chr15:66387376
MAP2K1Q10Lnot specifiedUncertain significance
(Aug 12, 2019)
criteria provided, single submitterVCV000929218
18.
GRCh37:
Chr15:66679721
GRCh38:
Chr15:66387383
MAP2K1not providedLikely benign
(Jun 25, 2018)
criteria provided, single submitterVCV001210586
19.
GRCh37:
Chr15:66679724
GRCh38:
Chr15:66387386
MAP2K1not specifiedLikely benign
(Mar 12, 2015)
criteria provided, single submitterVCV000227537
20.
GRCh37:
Chr15:66679726
GRCh38:
Chr15:66387388
MAP2K1D16fsnot providedUncertain significance
(Sep 16, 2018)
no assertion criteria providedVCV000591639
21.
GRCh37:
Chr15:66679727
GRCh38:
Chr15:66387389
MAP2K1not providedUncertain significance
(Dec 19, 2019)
criteria provided, single submitterVCV001317064
22.
GRCh37:
Chr15:66679728
GRCh38:
Chr15:66387390
MAP2K1P15SRASopathyUncertain significance
(Aug 19, 2021)
criteria provided, single submitterVCV001513991
23.
GRCh37:
Chr15:66679733
GRCh38:
Chr15:66387395
MAP2K1D16ERASopathyUncertain significance
(Aug 27, 2021)
criteria provided, single submitterVCV001005276
24.
GRCh37:
Chr15:66679738
GRCh38:
Chr15:66387400
MAP2K1S18Cnot providedUncertain significance
(Jan 1, 2019)
criteria provided, single submitterVCV000807276
25.
GRCh37:
Chr15:66679741
GRCh38:
Chr15:66387403
MAP2K1A19Gnot specified, RASopathyUncertain significance
(Nov 20, 2018)
criteria provided, multiple submitters, no conflictsVCV000177942
26.
GRCh37:
Chr15:66679754
GRCh38:
Chr15:66387416
MAP2K1not specified, RASopathyLikely benign
(May 9, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000138155
27.
GRCh37:
Chr15:66679755
GRCh38:
Chr15:66387417
MAP2K1S24GRASopathyUncertain significance
(Sep 1, 2021)
criteria provided, single submitterVCV000964053
28.
GRCh37:
Chr15:66679756
GRCh38:
Chr15:66387418
MAP2K1S24TRASopathyUncertain significance
(Aug 20, 2021)
criteria provided, single submitterVCV000854814
29.
GRCh37:
Chr15:66679761
GRCh38:
Chr15:66387423
MAP2K1A26Tnot providedUncertain significance
(Oct 15, 2020)
criteria provided, single submitterVCV001317376
30.
GRCh37:
Chr15:66679774
GRCh38:
Chr15:66387436
MAP2K1RASopathyLikely benign
(Sep 1, 2019)
criteria provided, single submitterVCV001130747
31.
GRCh37:
Chr15:66679779
GRCh38:
Chr15:66387441
MAP2K1not providedLikely benign
(Apr 22, 2016)
criteria provided, single submitterVCV000385739
32.
GRCh37:
Chr15:66679793
GRCh38:
Chr15:66387455
MAP2K1not providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001270545
33.
GRCh37:
Chr15:66679798
GRCh38:
Chr15:66387460
MAP2K1not providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001242993
34.
GRCh37:
Chr15:66679798
GRCh38:
Chr15:66387460
MAP2K1not providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV000040775
35.
GRCh37:
Chr15:66679819
GRCh38:
Chr15:66387481
MAP2K1not providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001252321
36.
GRCh37:
Chr15:66679850
GRCh38:
Chr15:66387512
MAP2K1not providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001250710
37.
GRCh37:
Chr15:66679851
GRCh38:
Chr15:66387513
MAP2K1not providedBenign
(Jun 6, 2019)
criteria provided, single submitterVCV001291296
38.
GRCh37:
Chr15:66679958
GRCh38:
Chr15:66387620
MAP2K1not providedBenign
(Jul 27, 2018)
criteria provided, single submitterVCV001296260
39.
GRCh37:
Chr15:66727345
GRCh38:
Chr15:66435007
MAP2K1RASopathyLikely benign
(May 8, 2021)
criteria provided, single submitterVCV001623255
40.
GRCh37:
Chr15:66727392
GRCh38:
Chr15:66435054
MAP2K1not provided, RASopathyLikely benign
(Sep 11, 2018)
criteria provided, single submitterVCV000751904
41.
GRCh37:
Chr15:66727408
GRCh38:
Chr15:66435070
MAP2K1L42FCardiofaciocutaneous syndrome 3, Cardio-facio-cutaneous syndrome, not specified
Conflicting interpretations of pathogenicity
(Aug 27, 2021)
criteria provided, conflicting interpretationsVCV000044587
42.
GRCh37:
Chr15:66727410-66727412
GRCh38:
Chr15:66435072-66435074
MAP2K1D43delRASopathyUncertain significance
(Aug 31, 2021)
criteria provided, single submitterVCV000477666
43.
GRCh37:
Chr15:66727413-66727445
GRCh38:
Chr15:66435075-66435107
MAP2K1RASopathyUncertain significance
(Oct 14, 2021)
criteria provided, single submitterVCV001429014
44.
GRCh37:
Chr15:66727421
GRCh38:
Chr15:66435083
MAP2K1Q46LCardio-facio-cutaneous syndromeLikely pathogenicno assertion criteria providedVCV000666418
45.
GRCh37:
Chr15:66727424
GRCh38:
Chr15:66435086
MAP2K1R47Qnot specifiedUncertain significance
(Jan 4, 2018)
criteria provided, single submitterVCV000633293
46.
GRCh37:
Chr15:66727431
GRCh38:
Chr15:66435093
MAP2K1RASopathyLikely benign
(Dec 8, 2020)
criteria provided, single submitterVCV001634020
47.
GRCh37:
Chr15:66727433
GRCh38:
Chr15:66435095
MAP2K1L50Pnot providedPathogenic
(Jan 9, 2020)
criteria provided, single submitterVCV001206943
48.
GRCh37:
Chr15:66727440
GRCh38:
Chr15:66435102
MAP2K1not specifiedLikely benign
(Feb 15, 2017)
criteria provided, single submitterVCV000507455
49.
GRCh37:
Chr15:66727440
GRCh38:
Chr15:66435102
MAP2K1not specified, not provided, RASopathy
Benign/Likely benign
(May 31, 2021)
criteria provided, multiple submitters, no conflictsVCV000040778
50.
GRCh37:
Chr15:66727441
GRCh38:
Chr15:66435103
MAP2K1F53IGastric adenocarcinoma, Neoplasm of the large intestine, Lung adenocarcinoma,
Malignant melanoma of skin
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376447
51.
GRCh37:
Chr15:66727441
GRCh38:
Chr15:66435103
MAP2K1F53VNeoplasm of the large intestine, Gastric adenocarcinoma, Malignant melanoma of skin,
Lung adenocarcinoma
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376446
52.
GRCh37:
Chr15:66727441
GRCh38:
Chr15:66435103
MAP2K1F53LMelanomaPathogenic
(Oct 2, 2014)
no assertion criteria providedVCV000375977
53.
GRCh37:
Chr15:66727442
GRCh38:
Chr15:66435104
MAP2K1F53SCardio-facio-cutaneous syndrome, not provided, Cardiofaciocutaneous syndrome 3
Pathogenic
(May 9, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000013350
54.
GRCh37:
Chr15:66727443
GRCh38:
Chr15:66435105
MAP2K1F53LGastric adenocarcinoma, Neoplasm of the large intestine, Lung adenocarcinoma,
Malignant melanoma of skin
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376445
55.
GRCh37:
Chr15:66727445
GRCh38:
Chr15:66435107
MAP2K1L54PRASopathyUncertain significance
(Aug 14, 2021)
criteria provided, single submitterVCV001506502
56.
GRCh37:
Chr15:66727451
GRCh38:
Chr15:66435113
MAP2K1Q56PMelanoma, Melorheostosis, Non-small cell lung carcinoma
Pathogenic/Likely pathogenic
(Jun 23, 2020)
no assertion criteria providedVCV000375978
57.
GRCh37:
Chr15:66727453
GRCh38:
Chr15:66435115
MAP2K1K57EMelanoma, MelorheostosisPathogenic/Likely pathogenic
(Jun 23, 2020)
no assertion criteria providedVCV000376173
58.
GRCh37:
Chr15:66727453
GRCh38:
Chr15:66435115
MAP2K1K57QCardio-facio-cutaneous syndrome, RASopathyLikely pathogenic
(May 9, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000040779
59.
GRCh37:
Chr15:66727454
GRCh38:
Chr15:66435116
MAP2K1K57TProstate adenocarcinoma, Gastric adenocarcinoma, Malignant melanoma of skin,
Lung adenocarcinoma, Non-Hodgkin lymphoma, Squamous cell carcinoma of the head and neck
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376448
60.
GRCh37:
Chr15:66727455
GRCh38:
Chr15:66435117
MAP2K1K57NSquamous cell carcinoma of the head and neck, Melanoma, Prostate adenocarcinoma,
Gastric adenocarcinoma, Malignant melanoma of skin, Lung adenocarcinoma,
Non-Hodgkin lymphoma
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376174
61.
GRCh37:
Chr15:66727455
GRCh38:
Chr15:66435117
MAP2K1K57NCardio-facio-cutaneous syndrome, Melorheostosis, Lung adenocarcinoma,
Non-small cell lung carcinoma, Melanoma
Pathogenic/Likely pathogenic
(Jun 23, 2020)
no assertion criteria providedVCV000223140
62.
GRCh37:
Chr15:66727457-66727459
GRCh38:
Chr15:66435119-66435121
MAP2K1K59delnot providedLikely pathogenic
(Jul 21, 2015)
criteria provided, single submitterVCV000222074
63.
GRCh37:
Chr15:66727458
GRCh38:
Chr15:66435120
MAP2K1Q58HCardiofaciocutaneous syndrome 3Uncertain significanceno assertion criteria providedVCV000834058
64.
GRCh37:
Chr15:66727458-66727472
GRCh38:
Chr15:66435120-66435134
MAP2K1not providedLikely pathogenic
(Mar 8, 2016)
criteria provided, single submitterVCV000372926
65.
GRCh37:
Chr15:66727461
GRCh38:
Chr15:66435123
MAP2K1RASopathy, not specifiedBenign/Likely benign
(Jul 22, 2020)
criteria provided, multiple submitters, no conflictsVCV000378100
66.
GRCh37:
Chr15:66727463
GRCh38:
Chr15:66435125
MAP2K1V60Gnot providedUncertain significance
(Jul 10, 2012)
criteria provided, single submitterVCV000040780
67.
GRCh37:
Chr15:66727468-66727482
GRCh38:
Chr15:66435130-66435144
MAP2K1not providedLikely pathogenic
(Mar 8, 2016)
criteria provided, single submitterVCV000372929
68.
GRCh37:
Chr15:66727482
GRCh38:
Chr15:66435144
MAP2K1D66ERASopathyUncertain significance
(Aug 28, 2021)
criteria provided, single submitterVCV001502584
69.
GRCh37:
Chr15:66727482
GRCh38:
Chr15:66435144
MAP2K1Noonan syndrome and Noonan-related syndrome, RASopathyConflicting interpretations of pathogenicity
(Oct 9, 2021)
criteria provided, conflicting interpretationsVCV001334250
70.
GRCh37:
Chr15:66727483
GRCh38:
Chr15:66435145
MAP2K1D67NMelanoma, MAP2K1-related RASopathy, Noonan syndrome,
Cardio-facio-cutaneous syndrome, Cardio-facio-cutaneous syndrome, Cardiofaciocutaneous syndrome 3,
not provided, RASopathy, Non-small cell lung carcinoma,
Autism spectrum disorder
Pathogenic
(May 9, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000040781
71.
GRCh37:
Chr15:66727489
GRCh38:
Chr15:66435151
MAP2K1E69KRASopathyUncertain significance
(Aug 24, 2021)
criteria provided, single submitterVCV000857990
72.
GRCh37:
Chr15:66727496
GRCh38:
Chr15:66435158
MAP2K1I71TRASopathyUncertain significance
(Jul 31, 2021)
criteria provided, single submitterVCV001494111
73.
GRCh37:
Chr15:66727496
GRCh38:
Chr15:66435158
MAP2K1I71SRASopathyUncertain significance
(Nov 30, 2021)
criteria provided, single submitterVCV001395763
74.
GRCh37:
Chr15:66727518
GRCh38:
Chr15:66435180
MAP2K1RASopathyLikely benign
(Mar 2, 2020)
criteria provided, single submitterVCV001116766
75.
GRCh37:
Chr15:66727521
GRCh38:
Chr15:66435183
MAP2K1Noonan syndrome and Noonan-related syndrome, not specified, RASopathy
Benign/Likely benign
(Mar 28, 2022)
criteria provided, multiple submitters, no conflictsVCV000040782
76.
GRCh37:
Chr15:66727522
GRCh38:
Chr15:66435184
MAP2K1G80SRASopathyUncertain significance
(Sep 17, 2021)
criteria provided, single submitterVCV001440001
77.
GRCh37:
Chr15:66727535
GRCh38:
Chr15:66435197
MAP2K1K84Rnot specified, Noonan syndrome and Noonan-related syndrome, RASopathy,
not provided
Uncertain significance
(Aug 26, 2021)
criteria provided, multiple submitters, no conflictsVCV000503541
78.
GRCh37:
Chr15:66727539
GRCh38:
Chr15:66435201
MAP2K1RASopathyLikely benign
(Dec 14, 2020)
criteria provided, single submitterVCV001661449
79.
GRCh37:
Chr15:66727539
GRCh38:
Chr15:66435201
MAP2K1RASopathyLikely benign
(May 24, 2020)
criteria provided, single submitterVCV001105938
80.
GRCh37:
Chr15:66727547
GRCh38:
Chr15:66435209
MAP2K1K88Rnot specifiedUncertain significance
(Jun 19, 2018)
criteria provided, single submitterVCV000667260
81.
GRCh37:
Chr15:66727548
GRCh38:
Chr15:66435210
MAP2K1not provided, RASopathyLikely benign
(Sep 26, 2021)
criteria provided, multiple submitters, no conflictsVCV001078549
82.
GRCh37:
Chr15:66727549
GRCh38:
Chr15:66435211
MAP2K1P89TCardiofaciocutaneous syndrome 3Likely pathogenic
(Aug 10, 2021)
criteria provided, single submitterVCV001299563
83.
GRCh37:
Chr15:66727559
GRCh38:
Chr15:66435221
MAP2K1L92RNoonan syndrome and Noonan-related syndrome, Cardio-facio-cutaneous syndrome, not provided
Likely pathogenic
(May 9, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000044588
84.
GRCh37:
Chr15:66727560
GRCh38:
Chr15:66435222
MAP2K1not providedBenign/Likely benign
(Oct 10, 2016)
criteria provided, multiple submitters, no conflictsVCV000040783
85.
GRCh37:
Chr15:66727561
GRCh38:
Chr15:66435223
MAP2K1V93Inot provided, RASopathyConflicting interpretations of pathogenicity
(Nov 22, 2021)
criteria provided, conflicting interpretationsVCV000180896
86.
GRCh37:
Chr15:66727563
GRCh38:
Chr15:66435225
MAP2K1RASopathyLikely benign
(Jun 26, 2021)
criteria provided, single submitterVCV001082796
87.
GRCh37:
Chr15:66727572
GRCh38:
Chr15:66435234
MAP2K1RASopathyLikely benign
(Sep 8, 2020)
criteria provided, single submitterVCV001088011
88.
GRCh37:
Chr15:66727589
GRCh38:
Chr15:66435251
MAP2K1RASopathyLikely benign
(Dec 9, 2021)
criteria provided, single submitterVCV001593570
89.
GRCh37:
Chr15:66727589-66727590
GRCh38:
Chr15:66435251-66435252
MAP2K1not specifiedLikely benign
(Nov 16, 2020)
criteria provided, single submitterVCV000987855
90.
GRCh37:
Chr15:66727589-66727595
GRCh38:
Chr15:66435251-66435257
MAP2K1RASopathy, not providedLikely benign
(Apr 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000421851
91.
GRCh37:
Chr15:66727590
GRCh38:
Chr15:66435252
MAP2K1RASopathyLikely benign
(Dec 9, 2021)
criteria provided, single submitterVCV001659912
92.
GRCh37:
Chr15:66727592
GRCh38:
Chr15:66435254
MAP2K1RASopathy, not specifiedLikely benign
(Dec 9, 2021)
criteria provided, multiple submitters, no conflictsVCV000987854
93.
GRCh37:
Chr15:66727593
GRCh38:
Chr15:66435255
MAP2K1not specifiedBenign
(Feb 13, 2020)
criteria provided, multiple submitters, no conflictsVCV000515007
94.
GRCh37:
Chr15:66727594
GRCh38:
Chr15:66435256
MAP2K1RASopathy, not specifiedLikely benign
(Dec 9, 2021)
criteria provided, multiple submitters, no conflictsVCV000987856
95.
GRCh37:
Chr15:66727595
GRCh38:
Chr15:66435257
MAP2K1RASopathyLikely benign
(Oct 31, 2021)
criteria provided, single submitterVCV001561327
96.
GRCh37:
Chr15:66727597
GRCh38:
Chr15:66435259
MAP2K1Squamous cell lung carcinoma, Cardiofaciocutaneous syndrome 3, not specified,
not provided
Benign
(Sep 5, 2021)
criteria provided, multiple submitters, no conflictsVCV000040784
97.
GRCh37:
Chr15:66727689-66727690
GRCh38:
Chr15:66435351-66435352
MAP2K1not providedBenign
(Nov 14, 2019)
criteria provided, single submitterVCV001227182
98.
GRCh37:
Chr15:66727689-66727690
GRCh38:
Chr15:66435351-66435352
MAP2K1not providedBenign
(Nov 14, 2019)
criteria provided, single submitterVCV001178395
99.
GRCh37:
Chr15:66727774
GRCh38:
Chr15:66435436
MAP2K1not providedBenign
(Jun 26, 2018)
criteria provided, single submitterVCV001229318
100.
GRCh37:
Chr15:66728951
GRCh38:
Chr15:66436613
MAP2K1not providedBenign
(Jun 15, 2018)
criteria provided, single submitterVCV000561383
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