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Items: 1 to 100 of 212

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr15:60120659-102461201
GRCh38:
Chr15:59828460-101920998
RAMAC, TLN2, CIAO2A, MEX3B, MEGF11, LINGO1, WDR73, UBL7, TICRR, RCCD1, LOC91450, CALML4, ARRDC4, LINC00923, UBE2Q2, LACTB, DIS3L, C15orf40, SENP8, MTFMT, SLC51B, TARS3, HIGD2B, LRRC28, TMEM266, AGBL1, HYKK, WHAMM, FSD2, ASB7, LOC145694, C2CD4A, LYSMD4, PGPEP1L, LINC00924, DRAIC, C15orf61, C15orf32, HAPLN3, MESP2, SPATA8, NRG4, LINC00052, CFAP161, TBC1D21, ODF3L1, ADAMTS17, SCAMP5, CT62, GRAMD2A, MGC15885, LCTL, CERS3, SPESP1, LINGO1-AS1, MIR9-3HG, SNX33, EWSAT1, REC114, LINC01579, ST20-AS1, LINC00927, CPEB1-AS1, SAXO2, LOC283731, NTRK3-AS1, LINC00928, FAM169B, FBXL22, TMEM202, GOLGA6A, TMC3, ZNF774, RBPMS2, ANKDD1A, ARPIN, KIF7, ZNF710, HDDC3, C2CD4B, INSYN1, SPATA41, KBTBD13, UBAP1L, SKOR1, ANKRD34C, GDPGP1, OR4F6, OR4F15, ST20, FAM174B, LINC01197, MIR184, MIR190A, MIR7-2, MIR9-3, LINC00593, UBL7-AS1, GOLGA6L9, MIR422A, CPLX3, SNORD16, SNORD18A, SNORD18B, SNORD18C, GOLGA6L4, NR2F2-AS1, SH2D7, GOLGA6L10, GOLGA6C, GOLGA6D, SCARNA15, SCARNA14, FBXO22-AS1, MIR549A, MIR629, MIR630, MIR631, AGBL1-AS1, ANKRD34C-AS1, LOC100128108, LOC100128979, LOC100129540, USP3-AS1, GOLGA6L3, LINC00930, TRK-CTT1-2, TRC-GCA5-1, TRR-TCG1-1, TRQ-CTG1-4, ADPGK-AS1, LOXL1-AS1, MIR1276, MIR1272, MIR1179, MIR1469, PIRC76, MIR3174, MIR4311, MIR4312, MIR3175, MIR4313, MIR3713, SNHG21, UBE2Q2L, LINC02349, IQCH-AS1, LINC00933, PRC1-AS1, LINC01578, LOC100507472, ARPIN-AP3S2, ST20-MTHFS, MIR4512, MIR4514, MIR4513, MIR3529, MIR4511, MIR4515, MIR4714, SPATA8-AS1, MIR5009, MIR5572, MIR5094, MIR548AP, CTXND1, RORA-AS2, NPTN-IT1, CRTC3-AS1, VPS33B-DT, CRAT37, LINC01581, LINC01580, LINC02207, LINC02254, LOC101927310, LINC01582, LINC02348, LOC101927751, RORA-AS1, LOC101928907, LOC101928988, LOC101929076, LINC02204, THSD4-AS2, THSD4-AS1, INSYN1-AS1, LOC101929439, LOC101929457, LINGO1-AS2, LOC101929586, TMC3-AS1, LINC02883, LINC01583, LINC01584, LINC01586, LINC01585, MIR6085, MIR6881, MIR6882, MIR7706, MIR8067, MIR6766, LINC01169, CERS3-AS1, LOC102723335, LINC02568, LINC02206, LOC102723493, LINC02259, LOC102724034, LOC102724452, LOC103171574, PCAT29, IRAIN, SALRNA3, SALRNA2, LUNAR1, LOC104613533, LOC105369201, LOC105369212, LINC02205, TMEM202-AS1, LINC02255, LOC105370954, IDH2-DT, LOC105370980, LINC02251, LINC02351, LINC02244, PCSK6-AS1, LOC105371031, LOC105376731, LOC107984784, LOC107988046, LOC107992387, LOC108251791, LOC108281191, LOC108964933, SNORA24B, SNORD13E, ZNF710-AS1, LOC110120860, LOC110120861, LOC110120917, LOC110121345, LOC110121383, LOC110121430, LOC110121464, LOC110121491, LOC110121492, LOC110467515, LOC110467516, LOC110467517, TPM1-AS, 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, MIR11181, MIR12135, LOC113939942, LOC113939945, LOC113939946, LOC113939947, LOC114827858, LOC116268467, LOC116268468, LOC116268469, LOC116268470, LOC116268471, LOC116268472, LOC116268473, LOC116268474, LOC116268475, LOC116268476, LOC116268477, LOC116268478, LOC116268479, ACAN, ALDH1A3, ANPEP, ANXA2, BBS4, BCL2A1, BLM, BNC1, CA12, CHD2, CHRNA3, CHRNA5, CHRNB4, CLK3, CRABP1, CSK, CSPG4, CTSH, CYP1A1, CYP1A2, CYP11A1, ETFA, FAH, FES, HEXA, IDH2, IDH3A, IGF1R, IL16, IREB2, ISG20, ISLR, LOXL1, SMAD3, SMAD6, MAN2A2, MAN2C1, MEF2A, MFGE8, MPI, MYO9A, NEO1, NMB, NTRK3, OAZ2, FURIN, PCSK6, PDE8A, PKM, PLIN1, PML, POLG, PPIB, MAP2K1, MAP2K5, PSMA4, PTPN9, RASGRF1, RCN2, RLBP1, RORA, RPL4, RPLP1, RPS17, SH3GL3, SNRPA1, SNX1, NR2F2, TLE3, TPM1, AP3B2, ANP32A, ST8SIA2, SEMA7A, CILP, PIAS1, RAB11A, PEX11A, IQGAP1, HERC1, PSTPIP1, PRC1, SLC28A1, SLC24A1, TRIP4, COX5A, STOML1, HOMER2, KIF23, IGDCC3, ZNF592, PCLAF, SV2B, ARNT2, USP3, NR2E3, HCN4, SCAMP2, SNUPN, PDCD7, TSPAN3, FEM1B, AP3S2, DENND4A, SNAPC5, HMG20A, CORO2B, SEMA4B, CIB2, CIB1, MTHFS, ARID3B, CLPX, MORF4L1, ABHD2, ADAMTS7, AKAP13, ITGA11, CHSY1, ZNF609, TBC1D2B, MESD, ACSBG1, MINAR1, SYNM, TMED3, SEC11A, DAPK2, ARIH1, SIN3A, ULK3, GLCE, FBXO22, VPS33B, MRPL46, RNU6-1, RNU5A-1, RNU5B-1, NPTN, FOXB1, SLCO3A1, SCAPER, HDGFL3, RPS27L, RASL12, SPG21, NGRN, RHCG, HACD3, RAB8B, BTBD1, TM6SF1, CSNK1G1, ZFAND6, VPS13C, LRRC49, PAQR5, DPP8, RPP25, COMMD4, PARP16, TIPIN, CLN6, ZSCAN2, ZWILCH, DET1, UACA, LINS1, FANCI, IMP3, LARP6, DNAJA4, MCTP2, SELENOS, GOLGA6B, MESP1, UNC45A, C15orf39, THAP10, RGMA, WDR93, PARP6, FAM219B, ADAMTSL3, CEMIP, ALPK3, ISLR2, IGDCC4, ABHD17C, TLNRD1, PPCDC, CELF6, STRA6, KLHL25, CPEB1, AEN, CRTC3, IQCH, ISL2, TTC23, MRPS11, NOX5, EFL1, NEIL1, ICE2, LRRK1, AAGAB, LMAN1L, PEAK1, SNX22, THSD4, ANP32A-IT1, HEXA-AS1, PIF1, CCDC33, EDC3, TM2D3, PLEKHO2, WDR61, CD276, STARD5, INTS14, LINC00597, ADPGK, APH1B
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
MAP2K1, TIPINnot providedLikely benign
(Jun 16, 2018)
criteria provided, single submitterVCV000561386
6.
GRCh37:
Chr15:66679225
GRCh38:
Chr15:66386887
MAP2K1, TIPINCardio-facio-cutaneous syndrome, Noonan syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316829
7.
GRCh37:
Chr15:66679230
GRCh38:
Chr15:66386892
MAP2K1, TIPINCardio-facio-cutaneous syndrome, Noonan syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316830
8.
GRCh37:
Chr15:66679238
GRCh38:
Chr15:66386900
MAP2K1, TIPINCardio-facio-cutaneous syndrome, Noonan syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000316831
9.
GRCh37:
Chr15:66679278
GRCh38:
Chr15:66386940
MAP2K1, TIPINCardio-facio-cutaneous syndrome, Noonan syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000316832
10.
GRCh37:
Chr15:66679281
GRCh38:
Chr15:66386943
MAP2K1, TIPINCardio-facio-cutaneous syndrome, Noonan syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316833
11.
GRCh37:
Chr15:66679466
GRCh38:
Chr15:66387128
MAP2K1, TIPINCardio-facio-cutaneous syndrome, Noonan syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316835
12.
GRCh37:
Chr15:66679470-66679471
GRCh38:
Chr15:66387132-66387133
MAP2K1, TIPINCardio-facio-cutaneous syndrome, Noonan syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000316834
13.
GRCh37:
Chr15:66679601
GRCh38:
Chr15:66387263
MAP2K1, TIPINCardio-facio-cutaneous syndrome, Noonan syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000040704
14.
GRCh37:
Chr15:66679655
GRCh38:
Chr15:66387317
MAP2K1Cardio-facio-cutaneous syndrome, not specified, Noonan syndrome
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflictsVCV000040710
15.
GRCh37:
Chr15:66679684
GRCh38:
Chr15:66387346
MAP2K1Cardio-facio-cutaneous syndrome, not specified, not provided,
Noonan syndrome
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflictsVCV000040738
16.
GRCh37:
Chr15:66679691
GRCh38:
Chr15:66387353
MAP2K1not specified, not providedLikely benign
(Jul 24, 2018)
criteria provided, multiple submitters, no conflictsVCV000040739
17.
GRCh37:
Chr15:66679696
GRCh38:
Chr15:66387358
MAP2K1K4Rnot providedUncertain significance
(Mar 27, 2017)
criteria provided, single submitterVCV000496174
18.
GRCh37:
Chr15:66679697
GRCh38:
Chr15:66387359
MAP2K1not providedLikely benign
(Oct 5, 2017)
criteria provided, single submitterVCV000705062
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:
Chr15:66679741
GRCh38:
Chr15:66387403
MAP2K1A19Gnot specified, RasopathyUncertain significance
(Nov 20, 2018)
criteria provided, multiple submitters, no conflictsVCV000177942
22.
GRCh37:
Chr15:66679754
GRCh38:
Chr15:66387416
MAP2K1not specified, not provided, Rasopathy
Likely benign
(May 9, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000138155
23.
GRCh37:
Chr15:66679779
GRCh38:
Chr15:66387441
MAP2K1not providedLikely benign
(Apr 22, 2016)
criteria provided, single submitterVCV000385739
24.
GRCh37:
Chr15:66727392
GRCh38:
Chr15:66435054
MAP2K1not providedLikely benign
(Sep 11, 2018)
criteria provided, single submitterVCV000751904
25.
GRCh37:
Chr15:66727408
GRCh38:
Chr15:66435070
MAP2K1L42FCardio-facio-cutaneous syndromeLikely pathogenic
(Oct 21, 2014)
criteria provided, single submitterVCV000044587
26.
GRCh37:
Chr15:66727413-66727415
GRCh38:
Chr15:66435075-66435077
MAP2K1D43delRasopathyUncertain significance
(Jun 14, 2017)
criteria provided, single submitterVCV000477666
27.
GRCh37:
Chr15:66727421
GRCh38:
Chr15:66435083
MAP2K1Q46LCardio-facio-cutaneous syndromeLikely pathogenicno assertion criteria providedVCV000666418
28.
GRCh37:
Chr15:66727424
GRCh38:
Chr15:66435086
MAP2K1R47Qnot specifiedUncertain significance
(Jan 4, 2018)
criteria provided, single submitterVCV000633293
29.
GRCh37:
Chr15:66727440
GRCh38:
Chr15:66435102
MAP2K1not specifiedLikely benign
(Feb 15, 2017)
criteria provided, single submitterVCV000507455
30.
GRCh37:
Chr15:66727440
GRCh38:
Chr15:66435102
MAP2K1not specified, not providedLikely benign
(Mar 29, 2018)
criteria provided, multiple submitters, no conflictsVCV000040778
31.
GRCh37:
Chr15:66727441
GRCh38:
Chr15:66435103
MAP2K1F53INeoplasm of the large intestine, Malignant melanoma of skin, Lung adenocarcinoma,
Adenocarcinoma of stomach
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376447
32.
GRCh37:
Chr15:66727441
GRCh38:
Chr15:66435103
MAP2K1F53VNeoplasm of the large intestine, Malignant melanoma of skin, Lung adenocarcinoma,
Adenocarcinoma of stomach
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376446
33.
GRCh37:
Chr15:66727441
GRCh38:
Chr15:66435103
MAP2K1F53LCutaneous melanomaPathogenic
(Oct 2, 2014)
no assertion criteria providedVCV000375977
34.
GRCh37:
Chr15:66727442
GRCh38:
Chr15:66435104
MAP2K1F53SCardio-facio-cutaneous syndrome, Cardiofaciocutaneous syndrome 3, not provided
Pathogenic
(May 9, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000013350
35.
GRCh37:
Chr15:66727443
GRCh38:
Chr15:66435105
MAP2K1F53LNeoplasm of the large intestine, Malignant melanoma of skin, Lung adenocarcinoma,
Adenocarcinoma of stomach
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376445
36.
GRCh37:
Chr15:66727451
GRCh38:
Chr15:66435113
MAP2K1Q56PCutaneous melanoma, Non-small cell lung cancerPathogenic/Likely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000375978
37.
GRCh37:
Chr15:66727453
GRCh38:
Chr15:66435115
MAP2K1K57ECutaneous melanomaLikely pathogenic
(Dec 26, 2014)
no assertion criteria providedVCV000376173
38.
GRCh37:
Chr15:66727453
GRCh38:
Chr15:66435115
MAP2K1K57QCardio-facio-cutaneous syndrome, RasopathyLikely pathogenic
(May 9, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000040779
39.
GRCh37:
Chr15:66727454
GRCh38:
Chr15:66435116
MAP2K1K57TAdenocarcinoma of prostate, Malignant melanoma of skin, Lung adenocarcinoma,
Squamous cell carcinoma of the head and neck, Adenocarcinoma of stomach, Non-Hodgkin lymphoma
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376448
40.
GRCh37:
Chr15:66727455
GRCh38:
Chr15:66435117
MAP2K1K57NAdenocarcinoma of prostate, Adenocarcinoma of stomach, Cutaneous melanoma,
Lung adenocarcinoma, Squamous cell carcinoma of the head and neck, Malignant melanoma of skin,
Non-Hodgkin lymphoma
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376174
41.
GRCh37:
Chr15:66727455
GRCh38:
Chr15:66435117
MAP2K1K57NCardio-facio-cutaneous syndrome, Cutaneous melanoma, Non-small cell lung cancer,
Lung adenocarcinoma
Pathogenic/Likely pathogenic
(Mar 3, 2016)
no assertion criteria providedVCV000223140
42.
GRCh37:
Chr15:66727459-66727461
GRCh38:
Chr15:66435121-66435123
MAP2K1K59delnot providedLikely pathogenic
(Jul 21, 2015)
criteria provided, single submitterVCV000222074
43.
GRCh37:
Chr15:66727461
GRCh38:
Chr15:66435123
MAP2K1not specifiedBenign
(Dec 4, 2015)
criteria provided, single submitterVCV000378100
44.
GRCh37:
Chr15:66727463-66727477
GRCh38:
Chr15:66435125-66435139
MAP2K1not providedLikely pathogenic
(Mar 8, 2016)
criteria provided, single submitterVCV000372926
45.
GRCh37:
Chr15:66727463
GRCh38:
Chr15:66435125
MAP2K1V60Gnot providedUncertain significance
(Jul 10, 2012)
criteria provided, single submitterVCV000040780
46.
GRCh37:
Chr15:66727470-66727484
GRCh38:
Chr15:66435132-66435146
MAP2K1not providedLikely pathogenic
(Mar 8, 2016)
criteria provided, single submitterVCV000372929
47.
GRCh37:
Chr15:66727483
GRCh38:
Chr15:66435145
MAP2K1D67NCardio-facio-cutaneous syndrome, Noonan syndrome, Cardio-facio-cutaneous syndrome,
Cutaneous melanoma, Cardiofaciocutaneous syndrome 3, not provided,
Rasopathy, Autism spectrum disorder, Non-small cell lung cancer
Pathogenic
(May 9, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000040781
48.
GRCh37:
Chr15:66727521
GRCh38:
Chr15:66435183
MAP2K1not specified, not providedBenign/Likely benign
(Jun 9, 2018)
criteria provided, multiple submitters, no conflictsVCV000040782
49.
GRCh37:
Chr15:66727535
GRCh38:
Chr15:66435197
MAP2K1K84Rnot specified, not providedUncertain significance
(Mar 1, 2018)
criteria provided, multiple submitters, no conflictsVCV000503541
50.
GRCh37:
Chr15:66727547
GRCh38:
Chr15:66435209
MAP2K1K88Rnot specifiedUncertain significance
(Jun 19, 2018)
criteria provided, single submitterVCV000667260
51.
GRCh37:
Chr15:66727559
GRCh38:
Chr15:66435221
MAP2K1L92RCardio-facio-cutaneous syndrome, not providedLikely pathogenic
(May 9, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000044588
52.
GRCh37:
Chr15:66727560
GRCh38:
Chr15:66435222
MAP2K1not providedLikely benign
(Oct 10, 2016)
criteria provided, single submitterVCV000040783
53.
GRCh37:
Chr15:66727561
GRCh38:
Chr15:66435223
MAP2K1V93Inot providedUncertain significance
(May 12, 2017)
criteria provided, multiple submitters, no conflictsVCV000180896
54.
GRCh37:
Chr15:66727589-66727595
GRCh38:
Chr15:66435251-66435257
MAP2K1not providedLikely benign
(Feb 2, 2018)
criteria provided, single submitterVCV000421851
55.
GRCh37:
Chr15:66727593
GRCh38:
Chr15:66435255
MAP2K1not specifiedBenign
(Feb 26, 2018)
criteria provided, single submitterVCV000515007
56.
GRCh37:
Chr15:66727597
GRCh38:
Chr15:66435259
MAP2K1not specifiedBenigncriteria provided, single submitterVCV000040784
57.
GRCh37:
Chr15:66728951
GRCh38:
Chr15:66436613
MAP2K1not providedBenign
(Jun 15, 2018)
criteria provided, single submitterVCV000561383
58.
GRCh37:
Chr15:66729080
GRCh38:
Chr15:66436742
MAP2K1not specifiedLikely benign
(Apr 29, 2015)
criteria provided, single submitterVCV000227536
59.
GRCh37:
Chr15:66729081
GRCh38:
Chr15:66436743
MAP2K1not specified, not providedBenign/Likely benign
(Oct 25, 2018)
criteria provided, multiple submitters, no conflictsVCV000216570
60.
GRCh37:
Chr15:66729088
GRCh38:
Chr15:66436750
MAP2K1I99TNeoplasmLikely pathogenic
(Dec 26, 2014)
no assertion criteria providedVCV000376192
61.
GRCh37:
Chr15:66729097
GRCh38:
Chr15:66436759
MAP2K1E102GCardiofaciocutaneous syndrome 3Pathogenic
(May 14, 2015)
no assertion criteria providedVCV000190378
62.
GRCh37:
Chr15:66729100
GRCh38:
Chr15:66436762
MAP2K1I103NNeoplasmLikely pathogenic
(Dec 26, 2014)
no assertion criteria providedVCV000376193
63.
GRCh37:
Chr15:66729100
GRCh38:
Chr15:66436762
MAP2K1I103Snot providedUncertain significance
(Jul 19, 2012)
criteria provided, single submitterVCV000040785
64.
GRCh37:
Chr15:66729107
GRCh38:
Chr15:66436769
MAP2K1not specified, not provided, Rasopathy
Benign
(May 9, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000044589
65.
GRCh37:
Chr15:66729114
GRCh38:
Chr15:66436776
MAP2K1R108WNoonan syndromeLikely benignno assertion criteria providedVCV000666419
66.
GRCh37:
Chr15:66729115
GRCh38:
Chr15:66436777
MAP2K1R108LNoonan syndrome 1, Cardiofaciocutaneous syndrome 3, not provided
Uncertain significance
(Oct 31, 2018)
criteria provided, multiple submitters, no conflictsVCV000280446
67.
GRCh37:
Chr15:66729115
GRCh38:
Chr15:66436777
MAP2K1R108Qnot specified, RasopathyUncertain significance
(May 2, 2018)
criteria provided, multiple submitters, no conflictsVCV000179368
68.
GRCh37:
Chr15:66729124
GRCh38:
Chr15:66436786
MAP2K1I111NNeoplasmLikely pathogenic
(Dec 26, 2014)
no assertion criteria providedVCV000376194
69.
GRCh37:
Chr15:66729124
GRCh38:
Chr15:66436786
MAP2K1I111SCutaneous melanomaPathogenic
(Oct 2, 2014)
no assertion criteria providedVCV000375979
70.
GRCh37:
Chr15:66729134
GRCh38:
Chr15:66436796
MAP2K1not providedLikely benign
(Aug 8, 2017)
criteria provided, single submitterVCV000779576
71.
GRCh37:
Chr15:66729135
GRCh38:
Chr15:66436797
MAP2K1L115VInborn genetic diseasesUncertain significance
(Feb 18, 2016)
criteria provided, single submitterVCV000040740
72.
GRCh37:
Chr15:66729147
GRCh38:
Chr15:66436809
MAP2K1H119Ynot providedPathogenic
(Feb 3, 2017)
criteria provided, single submitterVCV000040741
73.
GRCh37:
Chr15:66729148
GRCh38:
Chr15:66436810
MAP2K1H119PNeoplasmLikely pathogenic
(Dec 26, 2014)
no assertion criteria providedVCV000376195
74.
GRCh37:
Chr15:66729152
GRCh38:
Chr15:66436814
MAP2K1E120DNeoplasmLikely pathogenic
(Dec 26, 2014)
no assertion criteria providedVCV000376197
75.
GRCh37:
Chr15:66729152
GRCh38:
Chr15:66436814
MAP2K1E120DNeoplasmLikely pathogenic
(Dec 26, 2014)
no assertion criteria providedVCV000376196
76.
GRCh37:
Chr15:66729153
GRCh38:
Chr15:66436815
MAP2K1C121SLung adenocarcinomaLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376331
77.
GRCh37:
Chr15:66729154
GRCh38:
Chr15:66436816
MAP2K1C121SCutaneous melanoma, Lung adenocarcinomaPathogenic/Likely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000375980
78.
GRCh37:
Chr15:66729156
GRCh38:
Chr15:66436818
MAP2K1N122DCardiofaciocutaneous syndrome 3, Noonan syndrome 1, Rasopathy,
Noonan syndrome
Conflicting interpretations of pathogenicity
(Dec 27, 2018)
criteria provided, conflicting interpretationsVCV000228273
79.
GRCh37:
Chr15:66729162
GRCh38:
Chr15:66436824
MAP2K1P124SMalignant neoplasm of body of uterus, Neoplasm of the large intestine, Cutaneous melanoma,
Cardiofaciocutaneous syndrome 3, not provided, Noonan syndrome,
Malignant melanoma of skin, Transitional cell carcinoma of the bladder
Pathogenic/Likely pathogenic
(May 28, 2019)
criteria provided, multiple submitters, no conflictsVCV000375981
80.
GRCh37:
Chr15:66729162
GRCh38:
Chr15:66436824
MAP2K1P124TCardiofaciocutaneous syndrome 3Uncertain significance
(Sep 1, 2017)
criteria provided, single submitterVCV000040742
81.
GRCh37:
Chr15:66729163
GRCh38:
Chr15:66436825
MAP2K1P124Rnot providedPathogenic
(Jun 11, 2015)
criteria provided, single submitterVCV000372636
82.
GRCh37:
Chr15:66729163
GRCh38:
Chr15:66436825
MAP2K1P124LMalignant neoplasm of body of uterus, Neoplasm of the large intestine, Cardio-facio-cutaneous syndrome,
Cutaneous melanoma, not provided, Malignant melanoma of skin,
Transitional cell carcinoma of the bladder
Pathogenic/Likely pathogenic
(Oct 6, 2017)
criteria provided, multiple submitters, no conflictsVCV000040744
83.
GRCh37:
Chr15:66729163
GRCh38:
Chr15:66436825
MAP2K1P124QMalignant neoplasm of body of uterus, Malignant melanoma of skin, Neoplasm of the large intestine,
Transitional cell carcinoma of the bladder
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000040743
84.
GRCh37:
Chr15:66729170
GRCh38:
Chr15:66436832
MAP2K1not specifiedLikely benign
(May 18, 2017)
criteria provided, single submitterVCV000509643
85.
GRCh37:
Chr15:66729175
GRCh38:
Chr15:66436837
MAP2K1G128DCutaneous melanomaLikely pathogenic
(Dec 26, 2014)
no assertion criteria providedVCV000040746
86.
GRCh37:
Chr15:66729175-66729176
GRCh38:
Chr15:66436837-66436838
MAP2K1RasopathyPathogenic
(Nov 4, 2012)
criteria provided, single submitterVCV000040745
87.
GRCh37:
Chr15:66729175
GRCh38:
Chr15:66436837
MAP2K1G128VCardio-facio-cutaneous syndrome, Cardiofaciocutaneous syndrome 3, not provided
Pathogenic/Likely pathogenic
(Nov 27, 2017)
criteria provided, multiple submitters, no conflictsVCV000013352
88.
GRCh37:
Chr15:66729177
GRCh38:
Chr15:66436839
MAP2K1F129LCutaneous melanomaLikely pathogenic
(Dec 26, 2014)
no assertion criteria providedVCV000376175
89.
GRCh37:
Chr15:66729180
GRCh38:
Chr15:66436842
MAP2K1Y130NCardiofaciocutaneous syndrome 3Pathogenic
(Jul 13, 2018)
criteria provided, single submitterVCV000636238
90.
GRCh37:
Chr15:66729180
GRCh38:
Chr15:66436842
MAP2K1Y130HInborn genetic diseases, Cardio-facio-cutaneous syndromeLikely pathogenic
(May 9, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000040747
91.
GRCh37:
Chr15:66729181
GRCh38:
Chr15:66436843
MAP2K1Y130CCardiofaciocutaneous syndrome 3, Noonan syndrome 1, Inborn genetic diseases,
Cardio-facio-cutaneous syndrome, Cardiofaciocutaneous syndrome 3, not provided,
Rasopathy
Pathogenic
(May 9, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000013351
92.
GRCh37:
Chr15:66729188
GRCh38:
Chr15:66436850
MAP2K1not providedLikely benign
(May 7, 2018)
criteria provided, single submitterVCV000747680
93.
GRCh37:
Chr15:66729188
GRCh38:
Chr15:66436850
MAP2K1not providedLikely benign
(Jan 31, 2019)
criteria provided, single submitterVCV000040748
94.
GRCh37:
Chr15:66729203
GRCh38:
Chr15:66436865
MAP2K1RasopathyUncertain significance
(Mar 1, 2018)
criteria provided, single submitterVCV000572172
95.
GRCh37:
Chr15:66729204
GRCh38:
Chr15:66436866
MAP2K1E138Knot providedUncertain significance
(Jan 13, 2017)
criteria provided, single submitterVCV000180901
96.
GRCh37:
Chr15:66729238
GRCh38:
Chr15:66436900
MAP2K1Rasopathy, not providedBenign
(May 9, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000389759
97.
GRCh37:
Chr15:66729250
GRCh38:
Chr15:66436912
MAP2K1not specifiedBenigncriteria provided, single submitterVCV000040749
98.
GRCh37:
Chr15:66729422
GRCh38:
Chr15:66437084
MAP2K1not providedLikely benign
(Jun 16, 2018)
criteria provided, single submitterVCV000561434
99.
GRCh37:
Chr15:66735599
GRCh38:
Chr15:66443261
MAP2K1not providedLikely benign
(Jun 29, 2017)
criteria provided, single submitterVCV000383502
100.
GRCh37:
Chr15:66735600
GRCh38:
Chr15:66443262
MAP2K1not providedLikely benign
(Mar 17, 2016)
criteria provided, single submitterVCV000384908
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