MAP2K1[gene] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1548481.	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 GRCh37: Chr15:60120659-102461201 GRCh38: Chr15:59828460-101920998	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, LINC01418, LINC01579, LINC01580, LINC01581, LINC01582, LINC01583, LINC01584, LINC01585, LINC01586, LINC02204, LINC02205, LINC02207, LINC02244, LINC02251, LINC02253, LINC02254, LINC02255, LINC02259, LINC02348, LINC02349, LINC02351, LINC02568, LINC02883, LINGO1, LINGO1-AS1, LINGO1-AS2, LINS1, LMAN1L, LOC100128979, LOC100129540, LOC100507472, LOC101927310, LOC101928988, LOC101929439, LOC101929457, LOC101929586, LOC102723335, 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, LOC125078089, LOC125078090, LOC125078091, LOC125078093, LOC125078094, LOC125078095, LOC125078096, LOC125078097, LOC125078098, LOC125078099, LOC125078100, LOC125078101, LOC125078102, LOC125078103, LOC125078104, LOC125110343, LOC125110344, LOC125110345, LOC125110346, LOC125110347, LOC125110348, LOC125110349, LOC125110350, LOC125110351, LOC125110352, LOC125110353, LOC125110354, LOC125110355, LOC125110356, LOC125110357, LOC125138289, LOC125138290, LOC125138291, LOC125138292, LOC125138293, LOC125138294, LOC125138295, LOC125138296, LOC125138297, LOC125138298, LOC125138299, LOC125138300, LOC125138301, LOC125138302, LOC125138303, LOC125138305, LOC125138306, LOC125138307, LOC125138308, LOC125138309, LOC125146351, LOC125146353, LOC125146354, LOC125146355, LOC125146356, LOC125146357, LOC125146359, LOC125146360, LOC125146361, LOC125146362, LOC125146363, LOC125146364, LOC125146365, LOC125146367, LOC125146368, LOC125146369, LOC125146370, LOC126862143, LOC126862144, LOC126862145, LOC126862146, LOC126862147, LOC126862148, LOC126862149, LOC126862150, LOC126862151, LOC126862152, LOC126862153, LOC126862154, LOC126862155, LOC126862156, LOC126862157, LOC126862158, LOC126862159, LOC126862160, LOC126862161, LOC126862162, LOC126862163, LOC126862164, LOC126862165, LOC126862166, LOC126862167, LOC126862168, LOC126862169, LOC126862170, LOC126862171, LOC126862172, LOC126862173, LOC126862174, LOC126862175, LOC126862176, LOC126862177, LOC126862178, LOC126862179, LOC126862180, LOC126862181, LOC126862182, LOC126862183, LOC126862184, LOC126862185, LOC126862186, LOC126862187, LOC126862188, LOC126862189, LOC126862190, LOC126862191, LOC126862192, LOC126862193, LOC126862194, LOC126862195, LOC126862196, LOC126862197, LOC126862198, LOC126862199, LOC126862200, LOC126862201, LOC126862202, LOC126862203, LOC126862204, LOC126862205, LOC126862206, LOC126862207, LOC126862208, LOC126862209, LOC126862210, LOC126862211, LOC126862212, LOC126862213, LOC126862214, LOC126862215, LOC126862216, LOC126862217, LOC126862218, LOC126862219, LOC126862220, LOC126862221, LOC126862222, LOC126862223, LOC126862224, LOC126862225, LOC126862226, LOC126862227, LOC126862228, LOC126862229, LOC126862230, LOC126862231, LOC126862232, LOC126862233, LOC126862234, LOC126862235, LOC126862236, LOC126862237, LOC126862238, LOC126862239, LOC126862240, LOC126862241, LOC126862242, LOC126862243, LOC126862244, LOC126862245, LOC126862246, LOC126862247, LOC126862248, LOC126862249, LOC126862250, LOC126862251, LOC126862252, LOC126862253, LOC126862254, LOC126862255, LOC126862256, LOC126862257, LOC126862258, LOC126862259, LOC128071545, 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, POLGARF, 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, SCAPER, SCARNA14, SCARNA15, SEC11A, SELENOS, SEMA4B, SEMA7A, SENP8, SH2D7, SH3GL3, SLC51B, SIN3A, SKIC8, SKOR1, SKOR1-AS1, SLC24A1, SLC28A1, SLCO3A1, SMAD3, SMAD3-DT, SMAD6, SMASR, 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, WDR73, WDR93, WHAMM, ZFAND6, ZNF592, ZNF609, ZNF710, ZNF710-AS1, ZNF774, ZSCAN2, ZWILCH		See cases	Pathogenic (Oct 24, 2012)	no assertion criteria provided
Select item 5618172.	NM_001398281.1(TIPIN):c.-9+69T>G GRCh37: Chr15:66678919 GRCh38: Chr15:66386581	MAP2K1, TIPIN		not provided	Benign (Jun 19, 2018)	criteria provided, single submitter
Select item 5618733.	NM_001398281.1(TIPIN):c.-12T>A GRCh37: Chr15:66678991 GRCh38: Chr15:66386653	MAP2K1, TIPIN		not provided	Benign (Jun 14, 2018)	criteria provided, single submitter
Select item 5618754.	NM_001398281.1(TIPIN):c.-76G>A GRCh37: Chr15:66679055 GRCh38: Chr15:66386717	TIPIN, MAP2K1		not provided	Benign (Jun 14, 2018)	criteria provided, single submitter
Select item 5613865.	NM_002755.3(MAP2K1):c.-547C>T GRCh37: Chr15:66679139 GRCh38: Chr15:66386801	MAP2K1		not provided	Likely benign (Jun 16, 2018)	criteria provided, single submitter
Select item 3168316.	NM_002755.3(MAP2K1):c.-448C>T GRCh37: Chr15:66679238 GRCh38: Chr15:66386900	MAP2K1		not provided	Likely benign (Jul 31, 2018)	criteria provided, single submitter
Select item 3168347.	NM_002755.4(MAP2K1):c.-220CG[4] GRCh37: Chr15:66679464-66679465 GRCh38: Chr15:66387126-66387127	MAP2K1		not provided, Cardio-facio-cutaneous syndrome, Noonan syndrome	Likely benign (Oct 16, 2018)	criteria provided, multiple submitters, no conflicts
Select item 11895608.	NM_002755.4(MAP2K1):c.-105_-99dup GRCh37: Chr15:66679574-66679575 GRCh38: Chr15:66387236-66387237	MAP2K1		not provided	Likely benign (Nov 15, 2018)	criteria provided, single submitter
Select item 12868899.	NM_002755.4(MAP2K1):c.-85G>C GRCh37: Chr15:66679601 GRCh38: Chr15:66387263	MAP2K1		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 132100410.	NM_002755.4(MAP2K1):c.-43C>T GRCh37: Chr15:66679643 GRCh38: Chr15:66387305	MAP2K1		not provided	Likely benign (Feb 7, 2021)	criteria provided, single submitter
Select item 4071011.	NM_002755.4(MAP2K1):c.-31dup GRCh37: Chr15:66679649-66679650 GRCh38: Chr15:66387311-66387312	MAP2K1		not specified	Benign (Apr 15, 2014)	criteria provided, multiple submitters, no conflicts
Select item 4073812.	NM_002755.4(MAP2K1):c.-2A>G GRCh37: Chr15:66679684 GRCh38: Chr15:66387346	MAP2K1		Cardiovascular phenotype, Noonan syndrome and Noonan-related syndrome, not specified, not provided, RASopathy	Benign (Jul 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 199537413.	NM_002755.4(MAP2K1):c.5C>G (p.Pro2Arg) GRCh37: Chr15:66679690 GRCh38: Chr15:66387352	MAP2K1	P2R	RASopathy	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 192383314.	NM_002755.4(MAP2K1):c.6C>G (p.Pro2_Lys3=) GRCh37: Chr15:66679691 GRCh38: Chr15:66387353	MAP2K1		RASopathy	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 4073915.	NM_002755.4(MAP2K1):c.6C>T (p.Pro2=) GRCh37: Chr15:66679691 GRCh38: Chr15:66387353	MAP2K1		Cardiovascular phenotype, Noonan syndrome and Noonan-related syndrome, not specified, not provided, RASopathy	Benign/Likely benign (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 49617416.	NM_002755.4(MAP2K1):c.11A>G (p.Lys4Arg) GRCh37: Chr15:66679696 GRCh38: Chr15:66387358	MAP2K1	K4R	not provided	Uncertain significance (Mar 27, 2017)	criteria provided, single submitter
Select item 70506217.	NM_002755.4(MAP2K1):c.12G>A (p.Lys4=) GRCh37: Chr15:66679697 GRCh38: Chr15:66387359	MAP2K1		RASopathy, Cardiovascular phenotype	Likely benign (Sep 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 134356018.	NM_002755.4(MAP2K1):c.15G>A (p.Lys5=) GRCh37: Chr15:66679700 GRCh38: Chr15:66387362	MAP2K1		not specified, RASopathy	Likely benign (May 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92921819.	NM_002755.4(MAP2K1):c.29A>T (p.Gln10Leu) GRCh37: Chr15:66679714 GRCh38: Chr15:66387376	MAP2K1	Q10L	not specified	Uncertain significance (Aug 12, 2019)	criteria provided, single submitter
Select item 216046620.	NM_002755.4(MAP2K1):c.33G>A (p.Leu11_Asn12=) GRCh37: Chr15:66679718 GRCh38: Chr15:66387380	MAP2K1		RASopathy	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 121058621.	NM_002755.4(MAP2K1):c.36C>T (p.Asn12=) GRCh37: Chr15:66679721 GRCh38: Chr15:66387383	MAP2K1		not provided	Likely benign (Jun 25, 2018)	criteria provided, single submitter
Select item 244465322.	NM_002755.4(MAP2K1):c.37C>T (p.Pro13Ser) GRCh37: Chr15:66679722 GRCh38: Chr15:66387384	MAP2K1	P13S	not provided	Uncertain significance (Sep 20, 2022)	criteria provided, single submitter
Select item 22753723.	NM_002755.4(MAP2K1):c.39G>A (p.Pro13=) GRCh37: Chr15:66679724 GRCh38: Chr15:66387386	MAP2K1		RASopathy, not specified	Likely benign (Apr 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59163924.	NM_002755.4(MAP2K1):c.45del (p.Asp16fs) GRCh37: Chr15:66679726 GRCh38: Chr15:66387388	MAP2K1	D16fs	not provided	Uncertain significance (Sep 16, 2018)	no assertion criteria provided
Select item 131706425.	NM_002755.4(MAP2K1):c.42C>G (p.Ala14=) GRCh37: Chr15:66679727 GRCh38: Chr15:66387389	MAP2K1		not provided	Uncertain significance (Dec 19, 2019)	criteria provided, single submitter
Select item 174030226.	NM_002755.4(MAP2K1):c.43C>G (p.Pro15Ala) GRCh37: Chr15:66679728 GRCh38: Chr15:66387390	MAP2K1	P15A	Cardiovascular phenotype	Uncertain significance (May 15, 2022)	criteria provided, single submitter
Select item 151399127.	NM_002755.4(MAP2K1):c.43C>T (p.Pro15Ser) GRCh37: Chr15:66679728 GRCh38: Chr15:66387390	MAP2K1	P15S	RASopathy	Uncertain significance (Aug 19, 2021)	criteria provided, single submitter
Select item 174179028.	NM_002755.4(MAP2K1):c.45C>T (p.Pro15_Asp16=) GRCh37: Chr15:66679730 GRCh38: Chr15:66387392	MAP2K1		Cardiovascular phenotype	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 100527629.	NM_002755.4(MAP2K1):c.48C>A (p.Asp16Glu) GRCh37: Chr15:66679733 GRCh38: Chr15:66387395	MAP2K1	D16E	RASopathy	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 80727630.	NM_002755.4(MAP2K1):c.53C>G (p.Ser18Cys) GRCh37: Chr15:66679738 GRCh38: Chr15:66387400	MAP2K1	S18C	not provided	Uncertain significance (Jan 1, 2019)	criteria provided, single submitter
Select item 17794231.	NM_002755.4(MAP2K1):c.56C>G (p.Ala19Gly) GRCh37: Chr15:66679741 GRCh38: Chr15:66387403	MAP2K1	A19G	not specified, RASopathy	Uncertain significance (Mar 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13815532.	NM_002755.4(MAP2K1):c.69C>T (p.Thr23=) GRCh37: Chr15:66679754 GRCh38: Chr15:66387416	MAP2K1		RASopathy	Likely benign (May 9, 2017)	reviewed by expert panel FDA Recognized Database
Select item 96405333.	NM_002755.4(MAP2K1):c.70A>G (p.Ser24Gly) GRCh37: Chr15:66679755 GRCh38: Chr15:66387417	MAP2K1	S24G	RASopathy	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 85481434.	NM_002755.4(MAP2K1):c.71G>C (p.Ser24Thr) GRCh37: Chr15:66679756 GRCh38: Chr15:66387418	MAP2K1	S24T	RASopathy	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 131737635.	NM_002755.4(MAP2K1):c.76G>A (p.Ala26Thr) GRCh37: Chr15:66679761 GRCh38: Chr15:66387423	MAP2K1	A26T	not provided	Uncertain significance (Oct 15, 2020)	criteria provided, single submitter
Select item 241948136.	NM_002755.4(MAP2K1):c.77C>T (p.Ala26Val) GRCh37: Chr15:66679762 GRCh38: Chr15:66387424	MAP2K1	A26V	RASopathy	Uncertain significance (Oct 22, 2022)	criteria provided, single submitter
Select item 113074737.	NM_002755.4(MAP2K1):c.80+9G>A GRCh37: Chr15:66679774 GRCh38: Chr15:66387436	MAP2K1		RASopathy	Likely benign (Jun 4, 2022)	criteria provided, single submitter
Select item 38573938.	NM_002755.4(MAP2K1):c.80+14G>A GRCh37: Chr15:66679779 GRCh38: Chr15:66387441	MAP2K1		not provided	Likely benign (Apr 22, 2016)	criteria provided, single submitter
Select item 202325439.	NM_002755.4(MAP2K1):c.80+16G>C GRCh37: Chr15:66679781 GRCh38: Chr15:66387443	MAP2K1		RASopathy	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 191886740.	NM_002755.4(MAP2K1):c.80+18_80+19del GRCh37: Chr15:66679783-66679784 GRCh38: Chr15:66387445-66387446	MAP2K1		RASopathy	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 127054541.	NM_002755.4(MAP2K1):c.80+28G>C GRCh37: Chr15:66679793 GRCh38: Chr15:66387455	MAP2K1		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 124299342.	NM_002755.4(MAP2K1):c.80+33C>G GRCh37: Chr15:66679798 GRCh38: Chr15:66387460	MAP2K1		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 4077543.	NM_002755.4(MAP2K1):c.80+33C>T GRCh37: Chr15:66679798 GRCh38: Chr15:66387460	MAP2K1		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 125232144.	NM_002755.4(MAP2K1):c.80+54G>C GRCh37: Chr15:66679819 GRCh38: Chr15:66387481	MAP2K1		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 125071045.	NM_002755.4(MAP2K1):c.80+85del GRCh37: Chr15:66679850 GRCh38: Chr15:66387512	MAP2K1		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 129129646.	NM_002755.4(MAP2K1):c.80+87del GRCh37: Chr15:66679851 GRCh38: Chr15:66387513	MAP2K1		not provided	Benign (Jun 6, 2019)	criteria provided, single submitter
Select item 129626047.	NM_002755.4(MAP2K1):c.80+195del GRCh37: Chr15:66679958 GRCh38: Chr15:66387620	MAP2K1		not provided	Benign (Jul 27, 2018)	criteria provided, single submitter
Select item 162325548.	NM_002755.4(MAP2K1):c.81-20T>G GRCh37: Chr15:66727345 GRCh38: Chr15:66435007	MAP2K1		RASopathy	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 220263449.	NM_002755.4(MAP2K1):c.81-13C>T GRCh37: Chr15:66727352 GRCh38: Chr15:66435014	MAP2K1		RASopathy	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 204595350.	NM_002755.4(MAP2K1):c.86A>G (p.Asn29Ser) GRCh37: Chr15:66727370 GRCh38: Chr15:66435032	MAP2K1	N29S, N7S	RASopathy	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 176752151.	NM_002755.4(MAP2K1):c.95C>T (p.Ala32Val) GRCh37: Chr15:66727379 GRCh38: Chr15:66435041	MAP2K1	A10V, A32V	Cardiovascular phenotype	Uncertain significance (Jul 7, 2021)	criteria provided, single submitter
Select item 204029052.	NM_002755.4(MAP2K1):c.99G>A (p.Leu33_Gln34=) GRCh37: Chr15:66727383 GRCh38: Chr15:66435045	MAP2K1		RASopathy	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 75190453.	NM_002755.4(MAP2K1):c.108G>A (p.Lys36=) GRCh37: Chr15:66727392 GRCh38: Chr15:66435054	MAP2K1		not provided, RASopathy	Likely benign (Sep 11, 2018)	criteria provided, single submitter
Select item 4458754.	NM_002755.4(MAP2K1):c.124C>T (p.Leu42Phe) GRCh37: Chr15:66727408 GRCh38: Chr15:66435070	MAP2K1	L42F	not specified, Cardio-facio-cutaneous syndrome	Conflicting interpretations of pathogenicity (Aug 27, 2021)	criteria provided, conflicting interpretations
Select item 172365155.	NM_002755.4(MAP2K1):c.125T>G (p.Leu42Arg) GRCh37: Chr15:66727409 GRCh38: Chr15:66435071	MAP2K1	L20R, L42R	not provided	Uncertain significance (May 9, 2022)	criteria provided, single submitter
Select item 47766656.	NM_002755.4(MAP2K1):c.126TGA[1] (p.Asp43del) GRCh37: Chr15:66727410-66727412 GRCh38: Chr15:66435072-66435074	MAP2K1	D43del	RASopathy	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 142901457.	NM_002755.4(MAP2K1):c.130_162del (p.Glu44_Leu54del) GRCh37: Chr15:66727413-66727445 GRCh38: Chr15:66435075-66435107	MAP2K1		RASopathy	Uncertain significance (Oct 14, 2021)	criteria provided, single submitter
Select item 169303258.	NM_002755.4(MAP2K1):c.135G>T (p.Gln45His) GRCh37: Chr15:66727419 GRCh38: Chr15:66435081	MAP2K1	Q45H	not provided	Uncertain significance (Jun 7, 2022)	criteria provided, single submitter
Select item 66641859.	NM_002755.4(MAP2K1):c.137A>T (p.Gln46Leu) GRCh37: Chr15:66727421 GRCh38: Chr15:66435083	MAP2K1	Q46L	Cardio-facio-cutaneous syndrome	Likely pathogenic	no assertion criteria provided
Select item 243092860.	NM_002755.4(MAP2K1):c.139C>T (p.Arg47Ter) GRCh37: Chr15:66727423 GRCh38: Chr15:66435085	MAP2K1	R25, R47	not provided	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 63329361.	NM_002755.4(MAP2K1):c.140G>A (p.Arg47Gln) GRCh37: Chr15:66727424 GRCh38: Chr15:66435086	MAP2K1	R47Q	not specified, RASopathy	Uncertain significance (Jun 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 218589262.	NM_002755.4(MAP2K1):c.146G>A (p.Arg49His) GRCh37: Chr15:66727430 GRCh38: Chr15:66435092	MAP2K1	R27H, R49H	RASopathy	Uncertain significance (Jun 12, 2022)	criteria provided, single submitter
Select item 163402063.	NM_002755.4(MAP2K1):c.147C>A (p.Arg49=) GRCh37: Chr15:66727431 GRCh38: Chr15:66435093	MAP2K1		RASopathy	Likely benign (Dec 8, 2020)	criteria provided, single submitter
Select item 120694364.	NM_002755.4(MAP2K1):c.149T>C (p.Leu50Pro) GRCh37: Chr15:66727433 GRCh38: Chr15:66435095	MAP2K1	L50P	not provided	Pathogenic (Jan 9, 2020)	criteria provided, single submitter
Select item 199669965.	NM_002755.4(MAP2K1):c.153G>A (p.Glu51_Ala52=) GRCh37: Chr15:66727437 GRCh38: Chr15:66435099	MAP2K1		RASopathy	Likely benign (May 20, 2022)	criteria provided, single submitter
Select item 50745566.	NM_002755.4(MAP2K1):c.156C>G (p.Ala52=) GRCh37: Chr15:66727440 GRCh38: Chr15:66435102	MAP2K1		Cardiovascular phenotype, not specified	Likely benign (Mar 16, 2020)	criteria provided, multiple submitters, no conflicts
Select item 4077867.	NM_002755.4(MAP2K1):c.156C>T (p.Ala52=) GRCh37: Chr15:66727440 GRCh38: Chr15:66435102	MAP2K1		not specified, not provided, RASopathy	Benign/Likely benign (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37644768.	NM_002755.4(MAP2K1):c.157T>A (p.Phe53Ile) GRCh37: Chr15:66727441 GRCh38: Chr15:66435103	MAP2K1	F53I	Gastric adenocarcinoma, Neoplasm of the large intestine, Malignant melanoma of skin, Lung adenocarcinoma	Likely pathogenic (May 31, 2016)	no assertion criteria provided
Select item 37644669.	NM_002755.4(MAP2K1):c.157T>G (p.Phe53Val) GRCh37: Chr15:66727441 GRCh38: Chr15:66435103	MAP2K1	F53V	Gastric adenocarcinoma, Neoplasm of the large intestine, Malignant melanoma of skin, Lung adenocarcinoma	Likely pathogenic (May 31, 2016)	no assertion criteria provided
Select item 37597770.	NM_002755.4(MAP2K1):c.157T>C (p.Phe53Leu) GRCh37: Chr15:66727441 GRCh38: Chr15:66435103	MAP2K1	F53L	Melanoma	Pathogenic (Oct 2, 2014)	no assertion criteria provided
Select item 1335071.	NM_002755.4(MAP2K1):c.158T>C (p.Phe53Ser) GRCh37: Chr15:66727442 GRCh38: Chr15:66435104	MAP2K1	F53S	Cardio-facio-cutaneous syndrome	Pathogenic (May 9, 2017)	reviewed by expert panel FDA Recognized Database
Select item 37644572.	NM_002755.4(MAP2K1):c.159T>G (p.Phe53Leu) GRCh37: Chr15:66727443 GRCh38: Chr15:66435105	MAP2K1	F53L	Neoplasm of the large intestine, Gastric adenocarcinoma, Malignant melanoma of skin, Lung adenocarcinoma	Likely pathogenic (May 31, 2016)	no assertion criteria provided
Select item 150650273.	NM_002755.4(MAP2K1):c.161T>C (p.Leu54Pro) GRCh37: Chr15:66727445 GRCh38: Chr15:66435107	MAP2K1	L54P	RASopathy	Pathogenic (Dec 24, 2021)	criteria provided, single submitter
Select item 37597874.	NM_002755.4(MAP2K1):c.167A>C (p.Gln56Pro) GRCh37: Chr15:66727451 GRCh38: Chr15:66435113	MAP2K1	Q56P	not provided	Pathogenic (Jul 2, 2021)	criteria provided, single submitter
Select item 37617375.	NM_002755.4(MAP2K1):c.169A>G (p.Lys57Glu) GRCh37: Chr15:66727453 GRCh38: Chr15:66435115	MAP2K1	K57E	Melanoma, Melorheostosis	Pathogenic/Likely pathogenic (Jun 23, 2020)	no assertion criteria provided
Select item 4077976.	NM_002755.4(MAP2K1):c.169A>C (p.Lys57Gln) GRCh37: Chr15:66727453 GRCh38: Chr15:66435115	MAP2K1	K57Q	RASopathy	Likely pathogenic (May 9, 2017)	reviewed by expert panel FDA Recognized Database
Select item 170863777.	NM_002755.4(MAP2K1):c.170A>T (p.Lys57Met) GRCh37: Chr15:66727454 GRCh38: Chr15:66435116	MAP2K1	K35M, K57M	not provided	Pathogenic (Mar 31, 2022)	criteria provided, single submitter
Select item 37644878.	NM_002755.4(MAP2K1):c.170A>C (p.Lys57Thr) GRCh37: Chr15:66727454 GRCh38: Chr15:66435116	MAP2K1	K57T	Prostate adenocarcinoma, Squamous cell carcinoma of the head and neck, Malignant melanoma of skin, Non-Hodgkin lymphoma, Lung adenocarcinoma, Gastric adenocarcinoma	Likely pathogenic (May 31, 2016)	no assertion criteria provided
Select item 37617479.	NM_002755.4(MAP2K1):c.171G>C (p.Lys57Asn) GRCh37: Chr15:66727455 GRCh38: Chr15:66435117	MAP2K1	K57N	Prostate adenocarcinoma, Malignant melanoma of skin, Lung adenocarcinoma, Non-Hodgkin lymphoma, Squamous cell carcinoma of the head and neck, Gastric adenocarcinoma, Melanoma	Likely pathogenic (May 31, 2016)	no assertion criteria provided
Select item 22314080.	NM_002755.4(MAP2K1):c.171G>T (p.Lys57Asn) GRCh37: Chr15:66727455 GRCh38: Chr15:66435117	MAP2K1	K57N	not provided	Pathogenic (Apr 26, 2021)	criteria provided, single submitter
Select item 169138381.	NM_002755.4(MAP2K1):c.173_187del (p.Gln58_Glu62del) GRCh37: Chr15:66727456-66727470 GRCh38: Chr15:66435118-66435132	MAP2K1		Parkes Weber syndrome	Pathogenic	criteria provided, single submitter
Select item 22207482.	NM_002755.4(MAP2K1):c.175_177del (p.Lys59del) GRCh37: Chr15:66727457-66727459 GRCh38: Chr15:66435119-66435121	MAP2K1	K59del	not provided, RASopathy	Likely pathogenic (Sep 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 83405883.	NM_002755.4(MAP2K1):c.174G>T (p.Gln58His) GRCh37: Chr15:66727458 GRCh38: Chr15:66435120	MAP2K1	Q58H	Cardiofaciocutaneous syndrome 3	Uncertain significance	no assertion criteria provided
Select item 37292684.	NM_002755.4(MAP2K1):c.179_193del (p.Val60_Lys64del) GRCh37: Chr15:66727458-66727472 GRCh38: Chr15:66435120-66435134	MAP2K1		not provided	Likely pathogenic (Mar 8, 2016)	criteria provided, single submitter
Select item 37810085.	NM_002755.4(MAP2K1):c.177G>A (p.Lys59=) GRCh37: Chr15:66727461 GRCh38: Chr15:66435123	MAP2K1		RASopathy, not specified	Benign/Likely benign (Jun 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4078086.	NM_002755.4(MAP2K1):c.179T>G (p.Val60Gly) GRCh37: Chr15:66727463 GRCh38: Chr15:66435125	MAP2K1	V60G	not provided	Uncertain significance (Jul 10, 2012)	criteria provided, single submitter
Select item 37292987.	NM_002755.4(MAP2K1):c.186_200del (p.Glu62_Asp66del) GRCh37: Chr15:66727468-66727482 GRCh38: Chr15:66435130-66435144	MAP2K1		not provided	Likely pathogenic (Mar 8, 2016)	criteria provided, single submitter
Select item 150258488.	NM_002755.4(MAP2K1):c.198C>A (p.Asp66Glu) GRCh37: Chr15:66727482 GRCh38: Chr15:66435144	MAP2K1	D66E	RASopathy	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 133425089.	NM_002755.4(MAP2K1):c.198C>T (p.Asp66=) GRCh37: Chr15:66727482 GRCh38: Chr15:66435144	MAP2K1		RASopathy, Noonan syndrome and Noonan-related syndrome, Cardiovascular phenotype	Conflicting interpretations of pathogenicity (Sep 15, 2022)	criteria provided, conflicting interpretations
Select item 4078190.	NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) GRCh37: Chr15:66727483 GRCh38: Chr15:66435145	MAP2K1	D67N	Cardio-facio-cutaneous syndrome	Pathogenic (May 9, 2017)	reviewed by expert panel FDA Recognized Database
Select item 85799091.	NM_002755.4(MAP2K1):c.205G>A (p.Glu69Lys) GRCh37: Chr15:66727489 GRCh38: Chr15:66435151	MAP2K1	E69K	RASopathy	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 149411192.	NM_002755.4(MAP2K1):c.212T>C (p.Ile71Thr) GRCh37: Chr15:66727496 GRCh38: Chr15:66435158	MAP2K1	I71T	RASopathy	Uncertain significance (Jul 31, 2021)	criteria provided, single submitter
Select item 139576393.	NM_002755.4(MAP2K1):c.212T>G (p.Ile71Ser) GRCh37: Chr15:66727496 GRCh38: Chr15:66435158	MAP2K1	I71S	RASopathy	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 241989594.	NM_002755.4(MAP2K1):c.215G>A (p.Ser72Asn) GRCh37: Chr15:66727499 GRCh38: Chr15:66435161	MAP2K1	S50N, S72N	RASopathy	Uncertain significance (Oct 2, 2022)	criteria provided, single submitter
Select item 111676695.	NM_002755.4(MAP2K1):c.234T>C (p.Asn78=) GRCh37: Chr15:66727518 GRCh38: Chr15:66435180	MAP2K1		RASopathy	Likely benign (Sep 25, 2022)	criteria provided, single submitter
Select item 4078296.	NM_002755.4(MAP2K1):c.237C>T (p.Gly79=) GRCh37: Chr15:66727521 GRCh38: Chr15:66435183	MAP2K1		Cardiovascular phenotype, Noonan syndrome and Noonan-related syndrome, not specified, RASopathy, Noonan syndrome 1, Cardiofaciocutaneous syndrome 3, Melorheostosis	Benign/Likely benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144000197.	NM_002755.4(MAP2K1):c.238G>A (p.Gly80Ser) GRCh37: Chr15:66727522 GRCh38: Chr15:66435184	MAP2K1	G80S	RASopathy	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 50354198.	NM_002755.4(MAP2K1):c.251A>G (p.Lys84Arg) GRCh37: Chr15:66727535 GRCh38: Chr15:66435197	MAP2K1	K84R	not specified, Noonan syndrome and Noonan-related syndrome, not provided, RASopathy	Uncertain significance (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 166144999.	NM_002755.4(MAP2K1):c.255C>A (p.Val85=) GRCh37: Chr15:66727539 GRCh38: Chr15:66435201	MAP2K1		RASopathy	Likely benign (Dec 14, 2020)	criteria provided, single submitter
Select item 1105938100.	NM_002755.4(MAP2K1):c.255C>T (p.Val85=) GRCh37: Chr15:66727539 GRCh38: Chr15:66435201	MAP2K1		RASopathy, Cardiovascular phenotype	Likely benign (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts

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