ClinVar Miner

List of variants in gene MAP2K2 studied for Rasopathy

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Total variants: 86
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HGVS dbSNP
NC_000019.9:g.(?_4097267)_(4097351_?)del
NM_030662.3(MAP2K2):c.*8C>T rs377675706
NM_030662.3(MAP2K2):c.-18_-16delCCG rs397517411
NM_030662.3(MAP2K2):c.1006G>A (p.Gly336Ser)
NM_030662.3(MAP2K2):c.1020C>T (p.Pro340=) rs192389729
NM_030662.3(MAP2K2):c.1074G>A (p.Ala358=) rs140896887
NM_030662.3(MAP2K2):c.1085T>C (p.Met362Thr) rs730880513
NM_030662.3(MAP2K2):c.1093-6T>C rs369681843
NM_030662.3(MAP2K2):c.1111C>T (p.Arg371Trp)
NM_030662.3(MAP2K2):c.1112G>A (p.Arg371Gln) rs730880514
NM_030662.3(MAP2K2):c.1140C>T (p.Ala380=) rs146618055
NM_030662.3(MAP2K2):c.1162C>T (p.Arg388Trp) rs144383241
NM_030662.3(MAP2K2):c.1190G>A (p.Arg397His)
NM_030662.3(MAP2K2):c.1194C>T (p.Thr398=) rs144850779
NM_030662.3(MAP2K2):c.141C>T (p.Asp47=) rs201526172
NM_030662.3(MAP2K2):c.14G>A (p.Arg5Lys) rs1555699412
NM_030662.3(MAP2K2):c.171T>A (p.Phe57Leu)
NM_030662.3(MAP2K2):c.191_192delinsCT (p.Val64Ala) rs1555698682
NM_030662.3(MAP2K2):c.192C>T (p.Val64=) rs8157
NM_030662.3(MAP2K2):c.195C>T (p.Gly65=)
NM_030662.3(MAP2K2):c.207C>T (p.Asp69=) rs199850535
NM_030662.3(MAP2K2):c.217G>A (p.Glu73Lys) rs187018595
NM_030662.3(MAP2K2):c.225C>T (p.Ile75=) rs561400866
NM_030662.3(MAP2K2):c.22del (p.Val8fs) rs730880519
NM_030662.3(MAP2K2):c.240G>A (p.Ala80=) rs543217722
NM_030662.3(MAP2K2):c.26T>C (p.Leu9Pro)
NM_030662.3(MAP2K2):c.279C>T (p.Pro93=) rs1060504778
NM_030662.3(MAP2K2):c.281C>T (p.Ser94Leu) rs202220799
NM_030662.3(MAP2K2):c.288_290CAT[1] (p.Ile97del) rs1555698652
NM_030662.3(MAP2K2):c.289A>T (p.Ile97Phe) rs373579939
NM_030662.3(MAP2K2):c.291C>A (p.Ile97=) rs200918323
NM_030662.3(MAP2K2):c.303+8C>G rs199612401
NM_030662.3(MAP2K2):c.325C>G (p.Pro109Ala) rs1060502983
NM_030662.3(MAP2K2):c.33G>A (p.Ala11=) rs368233443
NM_030662.3(MAP2K2):c.376A>C (p.Asn126His)
NM_030662.3(MAP2K2):c.380C>T (p.Ser127Leu) rs1568260052
NM_030662.3(MAP2K2):c.390C>T (p.Ile130=) rs749956316
NM_030662.3(MAP2K2):c.395G>A (p.Gly132Asp) rs387906800
NM_030662.3(MAP2K2):c.39C>T (p.Thr13=) rs752951050
NM_030662.3(MAP2K2):c.400T>C (p.Tyr134His) rs121434499
NM_030662.3(MAP2K2):c.401A>G (p.Tyr134Cys) rs727504370
NM_030662.3(MAP2K2):c.402C>T (p.Tyr134=) rs753713281
NM_030662.3(MAP2K2):c.405G>C (p.Gly135=) rs10424722
NM_030662.3(MAP2K2):c.420C>T (p.Asp140=) rs369925884
NM_030662.3(MAP2K2):c.453C>G (p.Asp151Glu) rs17851657
NM_030662.3(MAP2K2):c.453C>T (p.Asp151=) rs17851657
NM_030662.3(MAP2K2):c.45C>T (p.Asn15=) rs767770776
NM_030662.3(MAP2K2):c.477G>A (p.Leu159=) rs748135585
NM_030662.3(MAP2K2):c.491G>T (p.Arg164Met)
NM_030662.3(MAP2K2):c.498C>T (p.Pro166=) rs139404261
NM_030662.3(MAP2K2):c.525C>T (p.Ile175=) rs150833333
NM_030662.3(MAP2K2):c.535C>T (p.Arg179Trp) rs370799450
NM_030662.3(MAP2K2):c.546G>A (p.Ala182=) rs141402203
NM_030662.3(MAP2K2):c.578G>A (p.Arg193Gln) rs530342723
NM_030662.3(MAP2K2):c.580+6G>A rs201435249
NM_030662.3(MAP2K2):c.603C>T (p.Leu201=) rs148291450
NM_030662.3(MAP2K2):c.619G>A (p.Glu207Lys) rs727504382
NM_030662.3(MAP2K2):c.660C>A (p.Ile220=) rs10250
NM_030662.3(MAP2K2):c.678C>T (p.Ser226=) rs200874968
NM_030662.3(MAP2K2):c.690G>A (p.Thr230=) rs201287884
NM_030662.3(MAP2K2):c.692G>A (p.Arg231His) rs730880511
NM_030662.3(MAP2K2):c.692G>T (p.Arg231Leu) rs730880511
NM_030662.3(MAP2K2):c.706-1_706delinsTT
NM_030662.3(MAP2K2):c.71del (p.Pro24fs) rs730880525
NM_030662.3(MAP2K2):c.783C>T (p.Ala261=) rs1060504779
NM_030662.3(MAP2K2):c.784G>A (p.Val262Ile) rs138873805
NM_030662.3(MAP2K2):c.813C>T (p.Asp271=) rs201726622
NM_030662.3(MAP2K2):c.818A>G (p.Lys273Arg) rs539555837
NM_030662.3(MAP2K2):c.823C>T (p.Leu275=) rs145934142
NM_030662.3(MAP2K2):c.825G>A (p.Leu275=) rs587781027
NM_030662.3(MAP2K2):c.834C>G (p.Ile278Met) rs766540227
NM_030662.3(MAP2K2):c.842G>A (p.Arg281Gln) rs1332074575
NM_030662.3(MAP2K2):c.844C>T (p.Pro282Ser) rs142307980
NM_030662.3(MAP2K2):c.846C>T (p.Pro282=) rs11539506
NM_030662.3(MAP2K2):c.847G>T (p.Val283Leu) rs185999703
NM_030662.3(MAP2K2):c.856G>A (p.Gly286Arg) rs730880523
NM_030662.3(MAP2K2):c.861A>G (p.Glu287=) rs1431720692
NM_030662.3(MAP2K2):c.865G>A (p.Gly289Arg) rs1555696725
NM_030662.3(MAP2K2):c.890G>A (p.Arg297Gln) rs140111079
NM_030662.3(MAP2K2):c.893C>T (p.Pro298Leu) rs200371894
NM_030662.3(MAP2K2):c.903C>T (p.Pro301=) rs560316877
NM_030662.3(MAP2K2):c.909C>T (p.Arg303=) rs1060504777
NM_030662.3(MAP2K2):c.918C>T (p.Ser306=) rs777196833
NM_030662.3(MAP2K2):c.93-6C>T rs727504836
NM_030662.3(MAP2K2):c.96A>G (p.Ala32=) rs1555698705
NM_030662.3(MAP2K2):c.981C>T (p.Asn327=) rs143275018

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