U.S. flag

An official website of the United States government

S I D E B A R
Format
Items per page
Sort by

Download:

Choose Destination

Did you mean MAP2K2 as a gene symbol? Search ClinVar for MAP2K2

See MAP2K2 mitogen-activated protein kinase kinase 2 in the Gene database

Search results

Items: 1 to 100 of 563

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr19:233565-4699484
GRCh38:
Chr19:233565-4699472
ABCA7, ABHD17A, ADAMTSL5, ADAT3, AMH, ANKRD24, AP3D1, APBA3, APC2, ARHGAP45, ARID3A, ATCAY, ATP5F1D, ATP8B3, AZU1, BSG, BSG-AS1, BTBD2, C19orf25, C2CD4C, CACTIN, CACTIN-AS1, CBARP, CBARP-DT, CDC34, CELF5, CFD, CHAF1A, CIRBP, CIRBP-AS1, CNN2, CREB3L3, CSNK1G2, CSNK1G2-AS1, DAPK3, DAZAP1, DIRAS1, DOHH, DOT1L, DPP9, DPP9-AS1, EBI3, EEF2, EFNA2, ELANE, FAM174C, FGF22, FSD1, FSTL3, FZR1, GADD45B, GAMT, GIPC3, GNA11, GNA15, GNA15-DT, GNG7, GPX4, GRIN3B, GZMM, HCN2, HDGFL2, HMG20B, IZUMO4, JSRP1, KISS1R, KLF16, LINC01775, LINGO3, LMNB2, LOC100288123, LOC106804547, LOC108254692, LOC108281123, LOC108348031, LOC108783649, LOC110006317, LOC110006318, LOC111413035, LOC111556134, LOC111721712, LOC111828491, LOC111828492, LOC112543439, LOC112543440, LOC112543441, LOC112543443, LOC112543475, LOC112543476, LOC112543477, LOC112543480, LOC112543481, LOC112543482, LOC112543490, LOC113939966, LOC113939970, LOC116276493, LOC116276494, LOC116276495, LOC116276496, LOC116276497, LOC116276498, LOC121627842, LOC121627843, LOC121627844, LOC121627845, LOC121627846, LOC121627847, LOC121627848, LOC121627849, LOC121627850, LOC121627851, LOC121852971, LOC121852972, LOC121852973, LOC121852974, LRG1, LSM7, MADCAM1, MADCAM1-AS1, MAP2K2, MATK, MBD3, MED16, MEX3D, MFSD12, MIDN, MIER2, MIR1227, MIR1909, MIR3187, MIR4321, MIR4745, MIR4746, MIR637, MIR6789, MIR7108, MIR7850, MISP, MKNK2, MOB3A, MPND, MRPL54, MYDGF, NCLN, NDUFS7, NFIC, NMRK2, OAZ1, ODF3L2, ONECUT3, PALM, PCSK4, PEAK3, PIAS4, PIP5K1C, PLEKHJ1, PLIN4, PLIN5, PLK5, PLPP2, PLPPR3, POLR2E, POLRMT, PRSS57, PRTN3, PTBP1, PWWP3A, R3HDM4, RAX2, REEP6, REXO1, RNF126, RNU6-2, RNU6-9, RPS15, S1PR4, SBNO2, SCAMP4, SEMA6B, SF3A2, SGTA, SH3GL1, SHC2, SHD, SIRT6, SLC39A3, SMIM24, SMIM44, SNORD37, SPPL2B, STAP2, STK11, TBXA2R, TCF3, TEKTIP1, THEG, THOP1, TIMM13, TJP3, TLE2, TLE5, TLE6, TMEM259, TMIGD2, TMPRSS9, TNFAIP8L1, TPGS1, TRF-GAA1-6, TRN-GTT2-6, UBXN6, UQCR11, WDR18, YJU2, ZBTB7A, ZFR2, ZNF554, ZNF555, ZNF556, ZNF57, ZNF77
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058787
2.
GRCh37:
Chr19:259395-6795622
GRCh38:
Chr19:259395-6795611
ABCA7, ABHD17A, ACER1, ACSBG2, ADAMTSL5, ADAT3, ALKBH7, AMH, ANKRD24, AP3D1, APBA3, APC2, ARHGAP45, ARID3A, ARRDC5, ATCAY, ATP5F1D, ATP8B3, AZU1, BSG, BSG-AS1, BTBD2, C19orf25, C2CD4C, C3, CACTIN, CACTIN-AS1, CAPS, CATSPERD, CBARP, CBARP-DT, CD70, CDC34, CELF5, CFD, CHAF1A, CIRBP, CIRBP-AS1, CLPP, CNN2, CRB3, CREB3L3, CSNK1G2, CSNK1G2-AS1, DAPK3, DAZAP1, DENND1C, DIRAS1, DOHH, DOT1L, DPP9, DPP9-AS1, DUS3L, EBI3, EEF2, EFNA2, ELANE, FAM174C, FEM1A, FGF22, FSD1, FSTL3, FUT3, FUT5, FUT6, FZR1, GADD45B, GAMT, GIPC3, GNA11, GNA15, GNA15-DT, GNG7, GPR108, GPX4, GRIN3B, GTF2F1, GZMM, HCN2, HDGFL2, HMG20B, HSD11B1L, IZUMO4, JSRP1, KDM4B, KHSRP, KISS1R, KLF16, LINC01775, LINGO3, LMNB2, LOC100288123, LOC101928844, LOC106804547, LOC108254692, LOC108281123, LOC108348031, LOC108783649, LOC110006317, LOC110006318, LOC111413035, LOC111556134, LOC111721712, LOC111828491, LOC111828492, LOC111828495, LOC112543439, LOC112543440, LOC112543441, LOC112543443, LOC112543475, LOC112543476, LOC112543477, LOC112543480, LOC112543481, LOC112543482, LOC112543490, LOC112552148, LOC112552174, LOC112552175, LOC112552176, LOC113939966, LOC113939970, LOC113939971, LOC113939974, LOC116276493, LOC116276494, LOC116276495, LOC116276496, LOC116276497, LOC116276498, LOC116276499, LOC116276500, LOC121627842, LOC121627843, LOC121627844, LOC121627845, LOC121627846, LOC121627847, LOC121627848, LOC121627849, LOC121627850, LOC121627851, LOC121627852, LOC121627853, LOC121852971, LOC121852972, LOC121852973, LOC121852974, LOC121852975, LOC121852976, LOC390877, LONP1, LRG1, LSM7, MADCAM1, MADCAM1-AS1, MAP2K2, MATK, MBD3, MED16, MEX3D, MFSD12, MICOS13, MIDN, MIER2, MIR1227, MIR1909, MIR3187, MIR3940, MIR4321, MIR4745, MIR4746, MIR4747, MIR637, MIR6789, MIR6790, MIR6791, MIR6885, MIR7-3, MIR7-3HG, MIR7108, MIR7850, MISP, MKNK2, MLLT1, MOB3A, MPND, MRPL54, MYDGF, NCLN, NDUFA11, NDUFS7, NFIC, NMRK2, NRTN, OAZ1, ODF3L2, ONECUT3, PALM, PCSK4, PEAK3, PIAS4, PIP5K1C, PLEKHJ1, PLIN3, PLIN4, PLIN5, PLK5, PLPP2, PLPPR3, POLR2E, POLRMT, PRR22, PRSS57, PRTN3, PSPN, PTBP1, PTPRS, PWWP3A, R3HDM4, RANBP3, RANBP3-DT, RAX2, REEP6, REXO1, RFX2, RNF126, RNU6-2, RNU6-9, RPL36, RPS15, S1PR4, SAFB, SAFB2, SBNO2, SCAMP4, SEMA6B, SF3A2, SGTA, SH2D3A, SH3GL1, SHC2, SHD, SIRT6, SLC25A23, SLC25A41, SLC39A3, SMIM24, SMIM44, SNORD37, SPPL2B, STAP2, STK11, TBXA2R, TCF3, TEKTIP1, THEG, THOP1, TICAM1, TIMM13, TINCR, TJP3, TLE2, TLE5, TLE6, TMEM259, TMIGD2, TMPRSS9, TNFAIP8L1, TNFSF14, TNFSF9, TPGS1, TRF-GAA1-6, TRG-TCC1-1, TRIP10, TRN-GTT2-6, TRV-CAC3-1, TUBB4A, UBXN6, UHRF1, UQCR11, VAV1, VMAC, WDR18, YJU2, ZBTB7A, ZFR2, ZNF554, ZNF555, ZNF556, ZNF57, ZNF77, ZNRF4
See casesPathogenic
(Feb 11, 2011)
no assertion criteria providedVCV000154560
3.
GRCh37:
Chr19:1549143-4288717
GRCh38:
Chr19:1549144-4288720
See casesPathogenic
(Aug 30, 2010)
no assertion criteria providedVCV000145414
4.
GRCh37:
Chr19:1565574-4108126
GRCh38:
Chr19:1565575-4108128
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059081
5.
GRCh37:
Chr19:1972244-9759555
GRCh38:
Chr19:1972245-9648879
ACER1, ACSBG2, ACTL9, ADAMTS10, ADGRE1, ALKBH7, AMH, ANGPTL4, ANKRD24, AP3D1, APBA3, ARHGEF18, ARRDC5, ATCAY, BTBD2, C3, CACTIN, CACTIN-AS1, CAMSAP3, CAPS, CATSPERD, CCL25, CD209, CD320, CD70, CELF5, CERS4, CHAF1A, CLEC4G, CLEC4M, CLPP, CRB3, CREB3L3, CSNK1G2, CTXN1, DAPK3, DENND1C, DIRAS1, DOHH, DOT1L, DPP9, DPP9-AS1, DUS3L, EBI3, EEF2, ELAVL1, EVI5L, FBN3, FCER2, FEM1A, FSD1, FUT3, FUT5, FUT6, FZR1, GADD45B, GIPC3, GNA11, GNA15, GNA15-DT, GNG7, GPR108, GTF2F1, HDGFL2, HMG20B, HNRNPM, HSD11B1L, INSR, IZUMO4, JSRP1, KANK3, KDM4B, KHSRP, LINC01775, LINGO3, LMNB2, LOC100128573, LOC101928844, LOC106804547, LOC108348031, LOC108783649, LOC111413022, LOC111556134, LOC111721712, LOC111828491, LOC111828492, LOC111828495, LOC112543475, LOC112543476, LOC112543477, LOC112543480, LOC112543481, LOC112543482, LOC112543490, LOC112552148, LOC112552174, LOC112552175, LOC112552176, LOC112577455, LOC112577456, LOC112577457, LOC112577458, LOC113939970, LOC113939971, LOC113939974, LOC113939976, LOC116276497, LOC116276498, LOC116276499, LOC116276500, LOC117282006, LOC117307477, LOC117307478, LOC121627846, LOC121627847, LOC121627848, LOC121627849, LOC121627850, LOC121627851, LOC121627852, LOC121627853, LOC121627854, LOC121627855, LOC121852972, LOC121852973, LOC121852974, LOC121852975, LOC121852976, LOC390877, LONP1, LRG1, LRRC8E, LSM7, MAP2K2, MAP2K7, MARCHF2, MATK, MBD3L1, MBD3L2, MBD3L2B, MBD3L3, MBD3L4, MBD3L5, MCEMP1, MCOLN1, MFSD12, MICOS13, MIR1227, MIR3940, MIR4321, MIR4746, MIR4747, MIR4999, MIR637, MIR6789, MIR6790, MIR6791, MIR6792, MIR6885, MIR7-3, MIR7-3HG, MIR7108, MIR7850, MKNK2, MLLT1, MOB3A, MPND, MRPL54, MUC16, MYDGF, MYO1F, NCLN, NDUFA11, NDUFA7, NFIC, NFILZ, NMRK2, NRTN, OAZ1, OR1M1, OR2Z1, OR7D2, OR7D4, OR7E24, OR7G1, OR7G2, OR7G3, PCP2, PEAK3, PET100, PEX11G, PIAS4, PIP5K1C, PLEKHJ1, PLIN3, PLIN4, PLIN5, PNPLA6, PRAM1, PRR22, PRR36, PSPN, PTPRS, RAB11B, RAB11B-AS1, RANBP3, RANBP3-DT, RAX2, RETN, RFX2, RPL36, RPS28, S1PR4, SAFB, SAFB2, SEMA6B, SF3A2, SGTA, SH2D3A, SH3GL1, SHD, SIRT6, SLC25A23, SLC25A41, SLC39A3, SMIM24, SMIM44, SNAPC2, SNORD37, SPPL2B, STAP2, STXBP2, TBXA2R, TEKTIP1, TEX45, TGFBR3L, THOP1, TICAM1, TIMM13, TIMM44, TINCR, TJP3, TLE2, TLE5, TLE6, TMIGD2, TMPRSS9, TNFAIP8L1, TNFSF14, TNFSF9, TRAPPC5, TRG-TCC1-1, TRIP10, TRV-CAC3-1, TUBB4A, UBXN6, UHRF1, VAV1, VMAC, XAB2, YJU2, ZBTB7A, ZFR2, ZNF121, ZNF177, ZNF266, ZNF317, ZNF358, ZNF414, ZNF426, ZNF426-DT, ZNF554, ZNF555, ZNF556, ZNF557, ZNF558, ZNF559, ZNF559-ZNF177, ZNF560, ZNF561, ZNF561-AS1, ZNF562, ZNF57, ZNF699, ZNF77, ZNRF4
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059082
6.
GRCh37:
Chr19:3080619-4912634
GRCh38:
Chr19:3080621-4912622
See casesLikely pathogenic
(Dec 16, 2011)
no assertion criteria providedVCV000148645
7.
GRCh37:
Chr19:3338022-4833151
GRCh38:
Chr19:3338024-4833139
See casesPathogenic
(Nov 30, 2010)
no assertion criteria providedVCV000145080
8.
GRCh37:
Chr19:3554633-4690977
GRCh38:
Chr19:3554635-4690965
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000060071
9.
GRCh37:
Chr19:3788725-5147365
GRCh38:
Chr19:3788727-5147354
See casesLikely pathogenic
(Sep 23, 2013)
no assertion criteria providedVCV000155547
10.
GRCh37:
Chr19:3947932-5196687
GRCh38:
Chr19:3947934-5196676
See casesUncertain significance
(Aug 19, 2010)
no assertion criteria providedVCV000144751
11.
GRCh37:
Chr19:4008558-4763171
GRCh38:
Chr19:4008560-4763159
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059083
12.
GRCh37:
Chr19:4090422
GRCh38:
Chr19:4090424
MAP2K2not providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001220587
13.
GRCh37:
Chr19:4090572
GRCh38:
Chr19:4090574
MAP2K2not providedBenign
(Mar 6, 2020)
criteria provided, single submitterVCV001227853
14.
GRCh37:
Chr19:4090572
GRCh38:
Chr19:4090574
MAP2K2not provided, not specifiedBenign
(Mar 3, 2015)
criteria provided, multiple submitters, no conflictsVCV000040848
15.
GRCh37:
Chr19:4090576
GRCh38:
Chr19:4090578
MAP2K2not provided, not specifiedBenign/Likely benign
(Jul 4, 2021)
criteria provided, multiple submitters, no conflictsVCV000388412
16.
GRCh37:
Chr19:4090577
GRCh38:
Chr19:4090579
MAP2K2not provided, not specifiedBenign
(Nov 25, 2019)
criteria provided, multiple submitters, no conflictsVCV000138164
17.
GRCh37:
Chr19:4090582
GRCh38:
Chr19:4090584
MAP2K2not specifiedLikely benign
(Apr 10, 2017)
criteria provided, single submitterVCV000382115
18.
GRCh37:
Chr19:4090587
GRCh38:
Chr19:4090589
MAP2K2not specifiedLikely benign
(Jul 13, 2012)
criteria provided, single submitterVCV000046224
19.
GRCh37:
Chr19:4090588
GRCh38:
Chr19:4090590
MAP2K2RASopathy, Noonan syndrome and Noonan-related syndrome, not specified
Likely benign
(May 9, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000046223
20.
GRCh37:
Chr19:4090594
GRCh38:
Chr19:4090596
MAP2K2not specifiedLikely benign
(Jan 28, 2016)
criteria provided, single submitterVCV000383208
21.
GRCh37:
Chr19:4090601
GRCh38:
Chr19:4090603
MAP2K2V400MNoonan syndrome and Noonan-related syndrome, not specified, not provided,
RASopathy
Benign/Likely benign
(Dec 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000040847
22.
GRCh37:
Chr19:4090602
GRCh38:
Chr19:4090604
MAP2K2not provided, RASopathy, not specified
Likely benign
(Apr 4, 2021)
criteria provided, multiple submitters, no conflictsVCV000496470
23.
GRCh37:
Chr19:4090604
GRCh38:
Chr19:4090606
MAP2K2A399Tnot specifiedUncertain significance
(Mar 15, 2021)
criteria provided, single submitterVCV001027629
24.
GRCh37:
Chr19:4090605
GRCh38:
Chr19:4090607
MAP2K2not specified, not provided, RASopathy
Benign
(May 9, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000040846
25.
GRCh37:
Chr19:4090608
GRCh38:
Chr19:4090610
MAP2K2not specified, not provided, RASopathy
Likely benign
(Nov 25, 2021)
criteria provided, multiple submitters, no conflictsVCV000697209
26.
GRCh37:
Chr19:4090609
GRCh38:
Chr19:4090611
MAP2K2R397HRASopathyUncertain significance
(Sep 1, 2021)
criteria provided, single submitterVCV000040844
27.
GRCh37:
Chr19:4090610
GRCh38:
Chr19:4090612
MAP2K2R397CRASopathy, not providedUncertain significance
(Aug 27, 2021)
criteria provided, multiple submitters, no conflictsVCV000180910
28.
GRCh37:
Chr19:4090612
GRCh38:
Chr19:4090614
MAP2K2T396MCardiofaciocutaneous syndrome 4, RASopathy, Noonan syndrome,
not provided, not specified
Uncertain significance
(Dec 5, 2019)
reviewed by expert panel
FDA Recognized Database
VCV000279960
29.
GRCh37:
Chr19:4090614
GRCh38:
Chr19:4090616
MAP2K2T396fsRASopathyUncertain significance
(Feb 8, 2021)
criteria provided, single submitterVCV001037390
30.
GRCh37:
Chr19:4090615
GRCh38:
Chr19:4090617
MAP2K2P395RRASopathyUncertain significance
(Aug 26, 2021)
criteria provided, single submitterVCV001002402
31.
GRCh37:
Chr19:4090617
GRCh38:
Chr19:4090619
MAP2K2not specified, not provided, RASopathy
Likely benign
(May 31, 2021)
criteria provided, multiple submitters, no conflictsVCV000996277
32.
GRCh37:
Chr19:4090619
GRCh38:
Chr19:4090621
MAP2K2T394Snot providedUncertain significance
(Sep 10, 2019)
criteria provided, single submitterVCV000180909
33.
GRCh37:
Chr19:4090622
GRCh38:
Chr19:4090624
MAP2K2G393Snot specified, RASopathyUncertain significance
(Oct 4, 2021)
criteria provided, multiple submitters, no conflictsVCV000837895
34.
GRCh37:
Chr19:4090623
GRCh38:
Chr19:4090625
MAP2K2Noonan syndrome and Noonan-related syndrome, RASopathy, not specified,
not provided
Conflicting interpretations of pathogenicity
(Mar 8, 2021)
criteria provided, conflicting interpretationsVCV000496472
35.
GRCh37:
Chr19:4090632
GRCh38:
Chr19:4090634
MAP2K2not specifiedLikely benign
(Nov 3, 2017)
criteria provided, single submitterVCV000513229
36.
GRCh37:
Chr19:4090636
GRCh38:
Chr19:4090638
MAP2K2R388QRASopathyUncertain significance
(Nov 23, 2021)
criteria provided, single submitterVCV001005324
37.
GRCh37:
Chr19:4090637
GRCh38:
Chr19:4090639
MAP2K2R388WCardiofaciocutaneous syndrome 4, not specified, not provided,
RASopathy, Noonan syndrome
Benign
(May 9, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000040843
38.
GRCh37:
Chr19:4090640
GRCh38:
Chr19:4090642
MAP2K2RASopathyLikely benign
(Oct 13, 2021)
criteria provided, single submitterVCV001635966
39.
GRCh37:
Chr19:4090642
GRCh38:
Chr19:4090644
MAP2K2T386IRASopathyUncertain significance
(Sep 1, 2021)
criteria provided, single submitterVCV001506401
40.
GRCh37:
Chr19:4090648
GRCh38:
Chr19:4090650
MAP2K2C384Ynot providedUncertain significance
(Mar 15, 2019)
criteria provided, single submitterVCV001308219
41.
GRCh37:
Chr19:4090658
GRCh38:
Chr19:4090660
MAP2K2G381SRASopathyUncertain significance
(Aug 14, 2021)
criteria provided, single submitterVCV001525536
42.
GRCh37:
Chr19:4090659
GRCh38:
Chr19:4090661
MAP2K2RASopathy, Noonan syndrome and Noonan-related syndrome, not specified
Likely benign
(May 9, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000050938
43.
GRCh37:
Chr19:4090661
GRCh38:
Chr19:4090663
MAP2K2A380TRASopathyUncertain significance
(Sep 14, 2021)
criteria provided, single submitterVCV001438169
44.
GRCh37:
Chr19:4090683
GRCh38:
Chr19:4090685
MAP2K2RASopathyLikely benign
(Aug 15, 2021)
criteria provided, single submitterVCV001635039
45.
GRCh37:
Chr19:4090687
GRCh38:
Chr19:4090689
MAP2K2R371Qnot specified, not provided, RASopathy
Uncertain significance
(Aug 26, 2019)
reviewed by expert panel
FDA Recognized Database
VCV000040842
46.
GRCh37:
Chr19:4090688
GRCh38:
Chr19:4090690
MAP2K2R371WRASopathy, not providedUncertain significance
(Aug 31, 2021)
criteria provided, multiple submitters, no conflictsVCV000572410
47.
GRCh37:
Chr19:4090690
GRCh38:
Chr19:4090692
MAP2K2K370MRASopathyUncertain significance
(Sep 24, 2021)
criteria provided, single submitterVCV001398919
48.
GRCh37:
Chr19:4090690
GRCh38:
Chr19:4090692
MAP2K2K370RNoonan syndromeUncertain significanceno assertion criteria providedVCV000666426
49.
GRCh37:
Chr19:4090693
GRCh38:
Chr19:4090695
MAP2K2I369TNoonan syndrome and Noonan-related syndromeUncertain significance
(Oct 2, 2017)
criteria provided, single submitterVCV001334256
50.
GRCh37:
Chr19:4090698
GRCh38:
Chr19:4090700
MAP2K2RASopathyLikely benign
(Nov 25, 2020)
criteria provided, single submitterVCV001655927
51.
GRCh37:
Chr19:4090699
GRCh38:
Chr19:4090701
MAP2K2T367NRASopathyUncertain significance
(Aug 28, 2021)
criteria provided, single submitterVCV001504208
52.
GRCh37:
Chr19:4090712
GRCh38:
Chr19:4090714
MAP2K2not specified, not provided, RASopathy
Benign
(May 9, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000046228
53.
GRCh37:
Chr19:4090725
GRCh38:
Chr19:4090727
MAP2K2RASopathyLikely benign
(Nov 27, 2021)
criteria provided, single submitterVCV001529198
54.
GRCh37:
Chr19:4090725
GRCh38:
Chr19:4090727
MAP2K2RASopathyUncertain significance
(Aug 30, 2021)
criteria provided, single submitterVCV001428897
55.
GRCh37:
Chr19:4090834
GRCh38:
Chr19:4090836
MAP2K2not providedLikely benign
(Jun 26, 2018)
criteria provided, single submitterVCV001194792
56.
GRCh37:
Chr19:4090979
GRCh38:
Chr19:4090981
MAP2K2not providedLikely benign
(Jun 19, 2018)
criteria provided, single submitterVCV000561942
57.
GRCh37:
Chr19:4094110
GRCh38:
Chr19:4094112
MAP2K2RASopathyBenign
(Dec 18, 2021)
criteria provided, single submitterVCV001670957
58.
GRCh37:
Chr19:4094324
GRCh38:
Chr19:4094326
MAP2K2not providedLikely benign
(Aug 14, 2018)
criteria provided, single submitterVCV001196051
59.
GRCh37:
Chr19:4094435
GRCh38:
Chr19:4094437
MAP2K2RASopathyLikely benign
(Nov 5, 2021)
criteria provided, single submitterVCV001653127
60.
GRCh37:
Chr19:4094436
GRCh38:
Chr19:4094438
MAP2K2RASopathyUncertain significance
(Oct 18, 2021)
criteria provided, single submitterVCV001394958
61.
GRCh37:
Chr19:4094437
GRCh38:
Chr19:4094439
MAP2K2RASopathyLikely benign
(Aug 4, 2021)
criteria provided, single submitterVCV001632290
62.
GRCh37:
Chr19:4094451
GRCh38:
Chr19:4094453
MAP2K2Noonan syndrome and Noonan-related syndrome, RASopathy, not specified
Uncertain significance
(Nov 17, 2021)
criteria provided, multiple submitters, no conflictsVCV000632883
63.
GRCh37:
Chr19:4094451
GRCh38:
Chr19:4094453
MAP2K2not specifiedLikely benign
(Apr 8, 2021)
criteria provided, multiple submitters, no conflictsVCV000514650
64.
GRCh37:
Chr19:4094456
GRCh38:
Chr19:4094458
MAP2K2L363FRASopathyUncertain significance
(Sep 15, 2021)
criteria provided, single submitterVCV001434578
65.
GRCh37:
Chr19:4094458
GRCh38:
Chr19:4094460
MAP2K2M362TRASopathy, not providedLikely benign
(Nov 21, 2021)
criteria provided, multiple submitters, no conflictsVCV000180908
66.
GRCh37:
Chr19:4094463
GRCh38:
Chr19:4094465
MAP2K2not specifiedLikely benign
(Jan 31, 2020)
criteria provided, single submitterVCV000928896
67.
GRCh37:
Chr19:4094469
GRCh38:
Chr19:4094471
MAP2K2RASopathyLikely benign
(Jun 24, 2021)
criteria provided, single submitterVCV001395596
68.
GRCh37:
Chr19:4094469
GRCh38:
Chr19:4094471
MAP2K2RASopathy, not specifiedBenign
(May 9, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000261928
69.
GRCh37:
Chr19:4094478
GRCh38:
Chr19:4094480
MAP2K2not specified, not provided, RASopathy
Benign/Likely benign
(Oct 8, 2021)
criteria provided, multiple submitters, no conflictsVCV000046227
70.
GRCh37:
Chr19:4094479
GRCh38:
Chr19:4094481
MAP2K2A355Vnot specified, not providedUncertain significance
(Mar 1, 2018)
criteria provided, multiple submitters, no conflictsVCV000285437
71.
GRCh37:
Chr19:4094482
GRCh38:
Chr19:4094484
MAP2K2P354Lnot provided, not specifiedUncertain significance
(Feb 8, 2022)
criteria provided, multiple submitters, no conflictsVCV000505055
72.
GRCh37:
Chr19:4094490
GRCh38:
Chr19:4094492
MAP2K2RASopathyLikely benign
(Sep 19, 2021)
criteria provided, single submitterVCV001625736
73.
GRCh37:
Chr19:4094497-4094498
GRCh38:
Chr19:4094499-4094500
MAP2K2not providedUncertain significance
(Oct 4, 2016)
criteria provided, single submitterVCV000422278
74.
GRCh37:
Chr19:4094499
GRCh38:
Chr19:4094501
MAP2K2not specifiedUncertain significance
(Oct 27, 2016)
criteria provided, single submitterVCV000373028
75.
GRCh37:
Chr19:4094502
GRCh38:
Chr19:4094504
MAP2K2not specifiedUncertain significance
(Nov 9, 2020)
criteria provided, single submitterVCV000987817
76.
GRCh37:
Chr19:4094527
GRCh38:
Chr19:4094529
MAP2K2not providedLikely benign
(Jul 11, 2018)
criteria provided, single submitterVCV001209378
77.
GRCh37:
Chr19:4094635-4094636
GRCh38:
Chr19:4094637-4094638
MAP2K2not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000561451
78.
GRCh37:
Chr19:4094708
GRCh38:
Chr19:4094710
MAP2K2not providedLikely benign
(Jun 20, 2018)
criteria provided, single submitterVCV000561446
79.
GRCh37:
Chr19:4094775
GRCh38:
Chr19:4094777
MAP2K2not providedBenign
(Jun 18, 2018)
criteria provided, single submitterVCV000561820
80.
GRCh37:
Chr19:4095083
GRCh38:
Chr19:4095085
MAP2K2not providedLikely benign
(Jun 14, 2018)
criteria provided, single submitterVCV000561918
81.
GRCh37:
Chr19:4095186
GRCh38:
Chr19:4095188
MAP2K2not providedLikely benign
(Jun 16, 2018)
criteria provided, single submitterVCV000561457
82.
GRCh37:
Chr19:4095294-4095295
GRCh38:
Chr19:4095296-4095297
MAP2K2not providedLikely benign
(Jun 16, 2018)
criteria provided, single submitterVCV000561436
83.
GRCh37:
Chr19:4095370
GRCh38:
Chr19:4095372
MAP2K2not specified, RASopathyLikely benign
(Mar 17, 2021)
criteria provided, multiple submitters, no conflictsVCV000506906
84.
GRCh37:
Chr19:4095373
GRCh38:
Chr19:4095375
MAP2K2not specified, RASopathyBenign/Likely benign
(Nov 4, 2021)
criteria provided, multiple submitters, no conflictsVCV000138163
85.
GRCh37:
Chr19:4095379
GRCh38:
Chr19:4095381
MAP2K2RASopathyLikely benign
(Aug 28, 2021)
criteria provided, single submitterVCV001583192
86.
GRCh37:
Chr19:4095382
GRCh38:
Chr19:4095384
MAP2K2not specifiedUncertain significance
(Jun 24, 2016)
criteria provided, single submitterVCV000505191
87.
GRCh37:
Chr19:4095390
GRCh38:
Chr19:4095392
MAP2K2K348ECardiofaciocutaneous syndrome 4, RASopathyUncertain significance
(Sep 24, 2021)
criteria provided, multiple submitters, no conflictsVCV001032231
88.
GRCh37:
Chr19:4095393
GRCh38:
Chr19:4095395
MAP2K2N347Dnot specifiedUncertain significance
(May 17, 2016)
criteria provided, single submitterVCV000372940
89.
GRCh37:
Chr19:4095396
GRCh38:
Chr19:4095398
MAP2K2V346Inot provided, not specified, RASopathy
Uncertain significance
(Sep 24, 2021)
criteria provided, multiple submitters, no conflictsVCV000372640
90.
GRCh37:
Chr19:4095410
GRCh38:
Chr19:4095412
MAP2K2D341ARASopathyUncertain significance
(Oct 22, 2021)
criteria provided, single submitterVCV001416918
91.
GRCh37:
Chr19:4095411
GRCh38:
Chr19:4095413
MAP2K2D341NRASopathyUncertain significance
(Aug 26, 2021)
criteria provided, single submitterVCV001407871
92.
GRCh37:
Chr19:4095412
GRCh38:
Chr19:4095414
MAP2K2Noonan syndrome and Noonan-related syndrome, not specified, RASopathy
Benign
(May 9, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000046226
93.
GRCh37:
Chr19:4095413
GRCh38:
Chr19:4095415
MAP2K2P340RRASopathyUncertain significance
(Aug 20, 2021)
criteria provided, single submitterVCV001421670
94.
GRCh37:
Chr19:4095413
GRCh38:
Chr19:4095415
MAP2K2P340Lnot specifiedUncertain significance
(Feb 1, 2021)
criteria provided, single submitterVCV000997863
95.
GRCh37:
Chr19:4095422
GRCh38:
Chr19:4095424
MAP2K2V337GRASopathyUncertain significance
(Sep 8, 2021)
criteria provided, single submitterVCV001518801
96.
GRCh37:
Chr19:4095426
GRCh38:
Chr19:4095428
MAP2K2G336SRASopathyUncertain significance
(Aug 30, 2021)
criteria provided, single submitterVCV000649050
97.
GRCh37:
Chr19:4095427
GRCh38:
Chr19:4095429
MAP2K2Noonan syndrome and Noonan-related syndrome, not specifiedConflicting interpretations of pathogenicity
(Feb 1, 2020)
criteria provided, conflicting interpretationsVCV000138162
98.
GRCh37:
Chr19:4095441
GRCh38:
Chr19:4095443
MAP2K2P331Snot providedUncertain significance
(Dec 3, 2021)
criteria provided, single submitterVCV001677495
99.
GRCh37:
Chr19:4095442
GRCh38:
Chr19:4095444
MAP2K2not specifiedLikely benign
(Jun 24, 2019)
criteria provided, single submitterVCV000928897
100.
GRCh37:
Chr19:4095445
GRCh38:
Chr19:4095447
MAP2K2not specifiedUncertain significance
(Jun 24, 2019)
criteria provided, single submitterVCV000928895
Format
Items per page
Sort by

Download:

Choose Destination
Support Center