MAP3K14 — 460 ClinVar variants
All ClinVar germline MAP3K14 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 167 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 5 Conflicting · 9 Benign · 9 Benign/Likely benign · 241 Likely benign · 194 Uncertain significance
Full MAP3K14 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 167
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
MAP3K14 p.Asp554Tyr
Conflicting
Single submitter
NIK deficiency
-
MAP3K14 p.Pro30Leu
Conflicting
Single submitter
NIK deficiency
-
MAP3K14 p.Thr764Ala
Conflicting
Single submitter
NIK deficiency
Predictors lean, ClinVar uncertain 150
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
MAP3K14 p.Ala103Thr
Uncertain significance
Multiple submitters
NIK deficiency
-
MAP3K14 p.Ala142Ser
Uncertain significance
Multiple submitters
NIK deficiency
-
MAP3K14 p.Ala575Thr
Uncertain significance
Multiple submitters
NIK deficiency
-
MAP3K14 p.Arg131His
Uncertain significance
Multiple submitters
NIK deficiency
-
MAP3K14 p.Arg146Gln
Uncertain significance
Multiple submitters
NIK deficiency
-
MAP3K14 p.Arg218Gln
Uncertain significance
Multiple submitters
NIK deficiency
-
MAP3K14 p.Arg99His
Uncertain significance
Multiple submitters
NIK deficiency
-
MAP3K14 p.Cys52Tyr
Uncertain significance
Multiple submitters
NIK deficiency
-
MAP3K14 p.Gln107Arg
Uncertain significance
Multiple submitters
NIK deficiency
-
MAP3K14 p.Gln273Glu
Uncertain significance
Multiple submitters
NIK deficiency
-
MAP3K14 p.Glu215Lys
Uncertain significance
Multiple submitters
NIK deficiency
-
MAP3K14 p.Gly10Arg
Uncertain significance
Multiple submitters
NIK deficiency
-
MAP3K14 p.His872Arg
Uncertain significance
Multiple submitters
NIK deficiency
-
MAP3K14 p.Ile890Val
Uncertain significance
Multiple submitters
NIK deficiency
-
MAP3K14 p.Ser140Arg
Uncertain significance
Multiple submitters
NIK deficiency
-
MAP3K14 p.Val239Met
Uncertain significance
Multiple submitters
NIK deficiency
-
MAP3K14 p.Val397Ala
Uncertain significance
Multiple submitters
NIK deficiency
-
MAP3K14 p.Val45Met
Uncertain significance
Multiple submitters
NIK deficiency
-
MAP3K14 p.Ala155Val
Uncertain significance
Single submitter
NIK deficiency
- MAP3K14 p.Ala157Val Uncertain significance Single submitter
-
MAP3K14 p.Ala162Val
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Ala187Thr
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Ala350Pro
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Ala361Val
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Ala623Thr
Uncertain significance
Single submitter
NIK deficiency
- MAP3K14 p.Ala629Val Uncertain significance Single submitter
-
MAP3K14 p.Ala644Val
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Ala763Gly
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Ala897Gly
Uncertain significance
Single submitter
NIK deficiency
- MAP3K14 p.Ala898Val Uncertain significance Single submitter
-
MAP3K14 p.Ala933Thr
Uncertain significance
Single submitter
NIK deficiency
- MAP3K14 p.Arg131Leu Uncertain significance Single submitter
-
MAP3K14 p.Arg138His
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Arg143Gln
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Arg218Trp
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Arg223Gln
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Arg325His
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Arg368Trp
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Arg405His
Uncertain significance
Single submitter
NIK deficiency
- MAP3K14 p.Arg571Thr Uncertain significance Single submitter
-
MAP3K14 p.Arg601Gln
Uncertain significance
Single submitter
NIK deficiency
- MAP3K14 p.Arg641His Uncertain significance Single submitter
-
MAP3K14 p.Arg653Gln
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Arg761Trp
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Arg848Gln
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Arg850Gln
Uncertain significance
Single submitter
NIK deficiency
- MAP3K14 p.Arg850Pro Uncertain significance Single submitter
-
MAP3K14 p.Arg850Trp
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Arg876Gln
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Arg880Gln
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Arg910Cys
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Arg910His
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Arg99Cys
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Asn859Ser
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Asp308Val
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Asp544Asn
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Asp574Asn
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Asp853Asn
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Cys306Arg
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Cys593Arg
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Gln195Arg
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Gln36Glu
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Gln598His
Uncertain significance
Single submitter
NIK deficiency
- MAP3K14 p.Gln90Glu Uncertain significance Single submitter
-
MAP3K14 p.Glu112Lys
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Glu334Ala
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Glu334Lys
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Glu418Lys
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Glu611Asp
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Glu72Ala
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Glu72Lys
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Glu767Asp
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Gly104Arg
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Gly204Ser
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Gly214Asp
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Gly248Arg
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Gly326Asp
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Gly364Ala
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Gly409Cys
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Gly446Glu
Uncertain significance
Single submitter
NIK deficiency
- MAP3K14 p.Gly462Glu Uncertain significance Single submitter
-
MAP3K14 p.Gly497Ser
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Gly553Arg
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Gly699Ala
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.His156Tyr
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.His227Asn
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.His243Tyr
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.His402Arg
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.His415Arg
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.His415Tyr
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.His829Tyr
Uncertain significance
Single submitter
NIK deficiency
- MAP3K14 p.His940Arg Uncertain significance Single submitter
- MAP3K14 p.Ile100Val Uncertain significance Single submitter
- MAP3K14 p.Ile117Val Uncertain significance Single submitter
-
MAP3K14 p.Ile865Val
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Leu22Phe
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Leu233Trp
Uncertain significance
Single submitter
NIK deficiency
- MAP3K14 p.Leu272Phe Uncertain significance Single submitter
-
MAP3K14 p.Leu551Val
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Leu606Phe
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Leu634Arg
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Lys128Arg
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Lys137Asn
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Lys148Asn
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Lys163Arg
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Lys330Arg
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Met844Val
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Pro12Ser
Uncertain significance
Single submitter
NIK deficiency
- MAP3K14 p.Pro164Ser Uncertain significance Single submitter
-
MAP3K14 p.Pro194Ser
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Pro245Arg
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Pro257Ser
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Pro259Ser
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Pro274Ser
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Pro279Leu
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Pro295Leu
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Pro297Ser
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Pro312Ala
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Pro312Thr
Uncertain significance
Single submitter
NIK deficiency
- MAP3K14 p.Pro316Ser Uncertain significance Single submitter
-
MAP3K14 p.Pro31Leu
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Pro454Ala
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Pro49Ala
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Pro620Ser
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Pro715His
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Pro851Leu
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Pro908Ser
Uncertain significance
Single submitter
NIK deficiency
- MAP3K14 p.Ser111Phe Uncertain significance Single submitter
-
MAP3K14 p.Ser14Leu
Uncertain significance
Single submitter
NIK deficiency
- MAP3K14 p.Ser151Leu Uncertain significance Single submitter
-
MAP3K14 p.Ser153Tyr
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Ser261Arg
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Ser282Pro
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Ser365Phe
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Ser525Arg
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Ser572Thr
Uncertain significance
Single submitter
NIK deficiency
- MAP3K14 p.Ser840Phe Uncertain significance Single submitter
-
MAP3K14 p.Thr29Met
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Thr383Ala
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Thr552Lys
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Thr63Asn
Uncertain significance
Single submitter
NIK deficiency
- MAP3K14 p.Thr852Ile Uncertain significance Single submitter
-
MAP3K14 p.Trp240Leu
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Trp275Arg
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Val333Met
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Val39Ile
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Val539Leu
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Val579Ile
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Val642Met
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Val828Ile
Uncertain significance
Single submitter
NIK deficiency
Predictors split 14
The independent predictors disagree with each other — read with care.
-
MAP3K14 p.Arg432Trp
Uncertain significance
Multiple submitters
NIK deficiency
-
MAP3K14 p.Phe258Leu
Benign/Likely benign
Multiple submitters
NIK deficiency
-
MAP3K14 p.Ala340Val
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Ala67Asp
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Ala927Thr
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Gly570Cys
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Gly65Ser
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Met417Lys
Uncertain significance
Single submitter
NIK deficiency
- MAP3K14 p.Met4Ile Uncertain significance Single submitter
-
MAP3K14 p.Phe599Leu
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Phe600Leu
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Pro295Arg
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Ser643Cys
Uncertain significance
Single submitter
NIK deficiency
-
MAP3K14 p.Val345Met
Uncertain significance
Single submitter
NIK deficiency
All MAP3K14 variants
Pathogenic 1
- p.Pro565Arg No assertion criteria immunodeficiency 112
Likely pathogenic 1
- p.Cys306fs Single submitter NIK deficiency
Conflicting classifications of pathogenicity 5
- p.Asp554Tyr Single submitter NIK deficiency ⚠
- p.Pro30Leu Single submitter NIK deficiency ⚠
- p.Ser508= Single submitter NIK deficiency
- p.Ser610= Single submitter NIK deficiency
- p.Thr764Ala Single submitter NIK deficiency ⚠
Benign 9
- c.1821+13A>C Multiple submitters NIK deficiency
- c.1821+17A>C Multiple submitters NIK deficiency
- c.327-7G>T Multiple submitters NIK deficiency
- p.Cys174Tyr Multiple submitters NIK deficiency
- p.Val902= Multiple submitters NIK deficiency
- c.1291-89G>A Single submitter
- c.1657+12dup Single submitter NIK deficiency
- c.2679+17C>T Single submitter NIK deficiency
- c.538-5C>T Single submitter NIK deficiency
Benign/Likely benign 9
- c.2326+13G>A Multiple submitters NIK deficiency
- c.2434-10G>A Multiple submitters NIK deficiency
- c.326+10G>A Multiple submitters NIK deficiency
- p.Ala220fs Multiple submitters NIK deficiency
- p.Ala44= Multiple submitters NIK deficiency
- p.His674Tyr Multiple submitters NIK deficiency
- p.Phe258Leu Multiple submitters NIK deficiency ⚠
- p.Ser140Asn Multiple submitters NIK deficiency
- p.Ser38= Multiple submitters NIK deficiency
Likely benign 241
- c.1152+15G>A Multiple submitters NIK deficiency
- c.1291-9C>T Multiple submitters NIK deficiency
- c.1421-15C>T Multiple submitters NIK deficiency
- c.1552+19G>A Multiple submitters NIK deficiency
- c.2579-17C>T Multiple submitters NIK deficiency
- c.538-4G>C Multiple submitters NIK deficiency
- p.Arg366= Multiple submitters NIK deficiency
- p.Arg368Gln Multiple submitters NIK deficiency
- p.Arg509= Multiple submitters NIK deficiency
- p.Arg601= Multiple submitters NIK deficiency
- p.Asn520= Multiple submitters NIK deficiency
- p.Asp247= Multiple submitters NIK deficiency
- p.Cys306= Multiple submitters NIK deficiency
- p.Glu182= Multiple submitters NIK deficiency
- p.Glu378= Multiple submitters NIK deficiency
- p.Glu637= Multiple submitters NIK deficiency
- p.Gly462= Multiple submitters NIK deficiency
- p.Gly485= Multiple submitters NIK deficiency
- p.Gly545= Multiple submitters NIK deficiency
- p.Leu185= Multiple submitters NIK deficiency
- p.Leu337= Multiple submitters NIK deficiency
- p.Lys294Gln Multiple submitters NIK deficiency
- p.Lys54= Multiple submitters NIK deficiency
- p.Pro203= Multiple submitters NIK deficiency
- p.Ser71= Multiple submitters NIK deficiency
- p.Ser840= Multiple submitters NIK deficiency
- p.Ser918= Multiple submitters NIK deficiency
- p.Val516Ile Multiple submitters NIK deficiency
- c.1152+11C>T Single submitter NIK deficiency
- c.1152+12C>T Single submitter NIK deficiency
- c.1152+14C>T Single submitter NIK deficiency
- c.1152+19C>T Single submitter NIK deficiency
- c.1152+20C>T Single submitter NIK deficiency
- c.1152+9T>A Single submitter NIK deficiency
- c.1153-16C>A Single submitter NIK deficiency
- c.1153-18C>G Single submitter NIK deficiency
- c.1153-9C>G Single submitter NIK deficiency
- c.1290+15_1290+16del Single submitter NIK deficiency
- c.1290+19G>A Single submitter NIK deficiency
- c.1290+20del Single submitter NIK deficiency
- c.1290+9G>C Single submitter NIK deficiency
- c.1420+11_1420+21del Single submitter NIK deficiency
- c.1420+19C>T Single submitter NIK deficiency
- c.1420+9C>G Single submitter NIK deficiency
- c.1420+9C>T Single submitter NIK deficiency
- c.1421-6T>C Single submitter NIK deficiency
- c.1552+13C>T Single submitter NIK deficiency
- c.1552+14C>T Single submitter NIK deficiency
- c.1552+16C>T Single submitter NIK deficiency
- c.1552+18C>A Single submitter NIK deficiency
- c.1553-11C>T Single submitter NIK deficiency
- c.1553-16C>T Single submitter NIK deficiency
- c.1657+11C>G Single submitter NIK deficiency
- c.1657+12C>A Single submitter NIK deficiency
- c.1657+9C>T Single submitter NIK deficiency
- c.1658-12C>A Single submitter NIK deficiency
- c.1658-9C>T Single submitter NIK deficiency
- c.1821+10G>A Single submitter NIK deficiency
- c.1821+11G>T Single submitter NIK deficiency
- c.1821+12C>A Single submitter NIK deficiency
- c.1821+18G>C Single submitter NIK deficiency
- c.1821+19C>A Single submitter NIK deficiency
- c.1821+9C>T Single submitter NIK deficiency
- c.1822-19G>A Single submitter NIK deficiency
- c.1822-8dup Single submitter NIK deficiency
- c.1972+15_1972+16insACAGCAAGGTAGGAAGAGCCCCAGC Single submitter NIK deficiency
- c.1972+16C>G Single submitter NIK deficiency
- c.1972+16C>T Single submitter NIK deficiency
- c.1972+17G>A Single submitter NIK deficiency
- c.1972+20G>A Single submitter NIK deficiency
- c.2433+19C>T Single submitter NIK deficiency
- c.257-16A>C Single submitter NIK deficiency
- c.257-16A>T Single submitter NIK deficiency
- c.257-17A>C Single submitter NIK deficiency
- c.257-19C>G Single submitter NIK deficiency
- c.257-20_257-19insG Single submitter NIK deficiency
- c.2578+14C>A Single submitter NIK deficiency
- c.2578+8C>T Single submitter NIK deficiency
- c.2579-10C>T Single submitter NIK deficiency
- c.2579-12T>C Single submitter NIK deficiency
- c.2579-20T>G Single submitter NIK deficiency
- c.2579-9G>A Single submitter NIK deficiency
- c.2679+10G>T Single submitter NIK deficiency
- c.2679+11C>G Single submitter NIK deficiency
- c.2679+14G>A Single submitter NIK deficiency
- c.2679+7G>A Single submitter NIK deficiency
- c.2679+9G>T Single submitter NIK deficiency
- c.2680-3T>C Single submitter
- c.326+13G>A Single submitter NIK deficiency
- c.537+10T>G Single submitter NIK deficiency
- c.537+15C>T Single submitter NIK deficiency
- c.537+16C>T Single submitter NIK deficiency
- c.537+7C>A Single submitter NIK deficiency
- c.538-10C>T Single submitter NIK deficiency
- c.538-13T>C Single submitter NIK deficiency
- c.538-16G>A Single submitter NIK deficiency
- c.538-17T>A Single submitter NIK deficiency
- c.538-4G>A Single submitter NIK deficiency
- c.538-7C>T Single submitter NIK deficiency
- c.538-8C>G Single submitter NIK deficiency
- c.538-9C>G Single submitter NIK deficiency
- p.Ala187= Single submitter NIK deficiency
- p.Ala25= Single submitter NIK deficiency
- p.Ala305= Single submitter NIK deficiency
- p.Ala327= Single submitter NIK deficiency
- p.Ala427= Single submitter NIK deficiency
- p.Ala627= Single submitter NIK deficiency
- p.Ala645= Single submitter NIK deficiency
- p.Ala654= Single submitter NIK deficiency
- p.Ala837= Single submitter NIK deficiency
- p.Ala898= Single submitter NIK deficiency
- p.Arg139= Single submitter NIK deficiency
- p.Arg139His Single submitter NIK deficiency
- p.Arg146= Single submitter NIK deficiency
- p.Arg394= Single submitter NIK deficiency
- p.Arg491= Single submitter NIK deficiency
- p.Arg571= Single submitter NIK deficiency
- p.Arg641= Single submitter NIK deficiency
- p.Arg876= Single submitter NIK deficiency
- p.Asn237= Single submitter NIK deficiency
- p.Asn377= Single submitter NIK deficiency
- p.Asn591= Single submitter NIK deficiency
- p.Asn843= Single submitter NIK deficiency
- p.Asp308= Single submitter NIK deficiency
- p.Asp419= Single submitter NIK deficiency
- p.Asp515= Single submitter NIK deficiency
- p.Asp526= Single submitter NIK deficiency
- p.Asp534= Single submitter NIK deficiency
- p.Asp905= Single submitter NIK deficiency
- p.Cys426= Single submitter NIK deficiency
- p.Cys573= Single submitter NIK deficiency
- p.Cys8= Single submitter NIK deficiency
- p.Gln349= Single submitter NIK deficiency
- p.Gln631Glu Single submitter NIK deficiency
- p.Gln834= Single submitter NIK deficiency
- p.Gln907= Single submitter NIK deficiency
- p.Gln923= Single submitter NIK deficiency
- p.Gln942= Single submitter NIK deficiency
- p.Glu334= Single submitter NIK deficiency
- p.Glu46= Single submitter NIK deficiency
- p.Glu489= Single submitter NIK deficiency
- p.Glu56= Single submitter NIK deficiency
- p.Glu723= Single submitter NIK deficiency
- p.Glu914= Single submitter NIK deficiency
- p.Glu944= Single submitter NIK deficiency
- p.Glu98= Single submitter NIK deficiency
- p.Gly127= Single submitter NIK deficiency
- p.Gly186= Single submitter NIK deficiency
- p.Gly249= Single submitter NIK deficiency
- p.Gly407= Single submitter NIK deficiency
- p.Gly474= Single submitter NIK deficiency
- p.Gly827= Single submitter NIK deficiency
- p.Gly906= Single submitter
- p.Gly941= Single submitter NIK deficiency
- p.His123= Single submitter NIK deficiency
- p.His238= Single submitter NIK deficiency
- p.His402= Single submitter NIK deficiency
- p.His529= Single submitter NIK deficiency
- p.His829= Single submitter NIK deficiency
- p.His872= Single submitter NIK deficiency
- p.His940= Single submitter NIK deficiency
- p.Ile102= Single submitter NIK deficiency
- p.Ile452= Single submitter NIK deficiency
- p.Ile630= Single submitter NIK deficiency
- p.Ile630Met Single submitter MAP3K14-related disorder
- p.Ile78= Single submitter NIK deficiency
- p.Ile81= Single submitter NIK deficiency
- p.Ile920= Single submitter NIK deficiency
- p.Leu217= Single submitter NIK deficiency
- p.Leu221= Single submitter NIK deficiency
- p.Leu272= Single submitter NIK deficiency
- p.Leu280= Single submitter NIK deficiency
- p.Leu287= Single submitter NIK deficiency
- p.Leu301= Single submitter NIK deficiency
- p.Leu323= Single submitter NIK deficiency
- p.Leu356= Single submitter NIK deficiency
- p.Leu381= Single submitter NIK deficiency
- p.Leu382= Single submitter NIK deficiency
- p.Leu471= Single submitter NIK deficiency
- p.Leu493= Single submitter NIK deficiency
- p.Leu496= Single submitter NIK deficiency
- p.Leu506= Single submitter NIK deficiency
- p.Leu523= Single submitter NIK deficiency
- p.Leu569= Single submitter NIK deficiency
- p.Leu587= Single submitter NIK deficiency
- p.Leu606= Single submitter NIK deficiency
- p.Leu625= Single submitter NIK deficiency
- p.Leu634= Single submitter NIK deficiency
- p.Leu846= Single submitter NIK deficiency
- p.Lys34= Single submitter NIK deficiency
- p.Phe411= Single submitter NIK deficiency
- p.Phe932= Single submitter NIK deficiency
- p.Pro194= Single submitter NIK deficiency
- p.Pro219= Single submitter
- p.Pro23= Single submitter NIK deficiency
- p.Pro245= Single submitter NIK deficiency
- p.Pro254Leu Single submitter
- p.Pro257= Single submitter
- p.Pro259= Single submitter NIK deficiency
- p.Pro274= Single submitter NIK deficiency
- p.Pro295= Single submitter NIK deficiency
- p.Pro30= Single submitter NIK deficiency
- p.Pro312= Single submitter NIK deficiency
- p.Pro488= Single submitter NIK deficiency
- p.Pro565= Single submitter NIK deficiency
- p.Pro603= Single submitter NIK deficiency
- p.Pro613= Single submitter NIK deficiency
- p.Pro619= Single submitter NIK deficiency
- p.Pro716= Single submitter NIK deficiency
- p.Pro721Ser Single submitter NIK deficiency
- p.Pro728= Single submitter NIK deficiency
- p.Pro851= Single submitter NIK deficiency
- p.Ser111= Single submitter NIK deficiency
- p.Ser140= Single submitter
- p.Ser525= Single submitter NIK deficiency
- p.Ser796= Single submitter NIK deficiency
- p.Ser806= Single submitter NIK deficiency
- p.Ser820= Single submitter NIK deficiency
- p.Ser867= Single submitter NIK deficiency
- p.Ser900= Single submitter NIK deficiency
- p.Thr175= Single submitter NIK deficiency
- p.Thr193= Single submitter NIK deficiency
- p.Thr255= Single submitter NIK deficiency
- p.Thr255Met Single submitter NIK deficiency
- p.Thr29= Single submitter NIK deficiency
- p.Thr374= Single submitter NIK deficiency
- p.Thr401= Single submitter NIK deficiency
- p.Thr852= Single submitter NIK deficiency
- p.Thr854= Single submitter NIK deficiency
- p.Thr903= Single submitter NIK deficiency
- p.Tyr336= Single submitter MAP3K14-related disorder
- p.Tyr911= Single submitter
- p.Val159= Single submitter NIK deficiency
- p.Val178= Single submitter NIK deficiency
- p.Val290= Single submitter NIK deficiency
- p.Val380= Single submitter NIK deficiency
- p.Val431= Single submitter NIK deficiency
- p.Val453= Single submitter NIK deficiency
- p.Val481= Single submitter NIK deficiency
- p.Val909= Single submitter NIK deficiency
- p.Ser549= No assertion criteria MAP3K14-related disorder
Uncertain significance 194
- p.Ala103Thr Multiple submitters NIK deficiency ⚠
- p.Ala142Ser Multiple submitters NIK deficiency ⚠
- p.Ala575Thr Multiple submitters NIK deficiency ⚠
- p.Arg131His Multiple submitters NIK deficiency ⚠
- p.Arg146Gln Multiple submitters NIK deficiency ⚠
- p.Arg218Gln Multiple submitters NIK deficiency ⚠
- p.Arg432Trp Multiple submitters NIK deficiency ⚠
- p.Arg99His Multiple submitters NIK deficiency ⚠
- p.Cys52Tyr Multiple submitters NIK deficiency ⚠
- p.Gln107Arg Multiple submitters NIK deficiency ⚠
- p.Gln273Glu Multiple submitters NIK deficiency ⚠
- p.Glu215Lys Multiple submitters NIK deficiency ⚠
- p.Gly10Arg Multiple submitters NIK deficiency ⚠
- p.His872Arg Multiple submitters NIK deficiency ⚠
- p.Ile890Val Multiple submitters NIK deficiency ⚠
- p.Ser140Arg Multiple submitters NIK deficiency ⚠
- p.Val239Met Multiple submitters NIK deficiency ⚠
- p.Val397Ala Multiple submitters NIK deficiency ⚠
- p.Val45Met Multiple submitters NIK deficiency ⚠
- c.1152+4A>G Single submitter NIK deficiency
- c.1290+4C>T Single submitter NIK deficiency
- c.1290+5G>A Single submitter NIK deficiency
- c.1420+4A>G Single submitter NIK deficiency
- c.1552+4A>G Single submitter NIK deficiency
- c.1657+3_1657+168del Single submitter NIK deficiency
- c.1657+5G>C Single submitter NIK deficiency
- c.1657+8C>T Single submitter
- c.1821+3C>G Single submitter NIK deficiency
- c.1972+1G>A Single submitter NIK deficiency
- c.1973-3T>C Single submitter NIK deficiency
- c.257-2A>G Single submitter NIK deficiency
- c.2679+5G>A Single submitter NIK deficiency
- c.2679+6G>T Single submitter NIK deficiency
- c.538-5C>A Single submitter NIK deficiency
- p.Ala155Val Single submitter NIK deficiency ⚠
- p.Ala157Val Single submitter ⚠
- p.Ala162Val Single submitter NIK deficiency ⚠
- p.Ala187Thr Single submitter NIK deficiency ⚠
- p.Ala340Val Single submitter NIK deficiency ⚠
- p.Ala350Pro Single submitter NIK deficiency ⚠
- p.Ala361Val Single submitter NIK deficiency ⚠
- p.Ala623Thr Single submitter NIK deficiency ⚠
- p.Ala629Val Single submitter ⚠
- p.Ala644Val Single submitter NIK deficiency ⚠
- p.Ala67Asp Single submitter NIK deficiency ⚠
- p.Ala763Gly Single submitter NIK deficiency ⚠
- p.Ala897Gly Single submitter NIK deficiency ⚠
- p.Ala898Val Single submitter ⚠
- p.Ala927Thr Single submitter NIK deficiency ⚠
- p.Ala933Thr Single submitter NIK deficiency ⚠
- p.Arg131Leu Single submitter ⚠
- p.Arg138His Single submitter NIK deficiency ⚠
- p.Arg143Gln Single submitter NIK deficiency ⚠
- p.Arg218Trp Single submitter NIK deficiency ⚠
- p.Arg223Gln Single submitter NIK deficiency ⚠
- p.Arg223Ter Single submitter NIK deficiency
- p.Arg325His Single submitter NIK deficiency ⚠
- p.Arg368Trp Single submitter NIK deficiency ⚠
- p.Arg405His Single submitter NIK deficiency ⚠
- p.Arg571Thr Single submitter ⚠
- p.Arg601Gln Single submitter NIK deficiency ⚠
- p.Arg641His Single submitter ⚠
- p.Arg653Gln Single submitter NIK deficiency ⚠
- p.Arg761Trp Single submitter NIK deficiency ⚠
- p.Arg848Gln Single submitter NIK deficiency ⚠
- p.Arg850fs Single submitter NIK deficiency
- p.Arg850Gln Single submitter NIK deficiency ⚠
- p.Arg850Pro Single submitter ⚠
- p.Arg850Trp Single submitter NIK deficiency ⚠
- p.Arg876Gln Single submitter NIK deficiency ⚠
- p.Arg880Gln Single submitter NIK deficiency ⚠
- p.Arg910Cys Single submitter NIK deficiency ⚠
- p.Arg910His Single submitter NIK deficiency ⚠
- p.Arg99Cys Single submitter NIK deficiency ⚠
- p.Asn859Ser Single submitter NIK deficiency ⚠
- p.Asp308Val Single submitter NIK deficiency ⚠
- p.Asp544Asn Single submitter NIK deficiency ⚠
- p.Asp574Asn Single submitter NIK deficiency ⚠
- p.Asp853Asn Single submitter NIK deficiency ⚠
- p.Cys306Arg Single submitter NIK deficiency ⚠
- p.Cys593Arg Single submitter NIK deficiency ⚠
- p.Gln195Arg Single submitter NIK deficiency ⚠
- p.Gln36Glu Single submitter NIK deficiency ⚠
- p.Gln598His Single submitter NIK deficiency ⚠
- p.Gln90Glu Single submitter ⚠
- p.Glu112fs Single submitter NIK deficiency
- p.Glu112Lys Single submitter NIK deficiency ⚠
- p.Glu21fs Single submitter NIK deficiency
- p.Glu334Ala Single submitter NIK deficiency ⚠
- p.Glu334Lys Single submitter NIK deficiency ⚠
- p.Glu418Lys Single submitter NIK deficiency ⚠
- p.Glu611Asp Single submitter NIK deficiency ⚠
- p.Glu72Ala Single submitter NIK deficiency ⚠
- p.Glu72Lys Single submitter NIK deficiency ⚠
- p.Glu767Asp Single submitter NIK deficiency ⚠
- p.Gly104Arg Single submitter NIK deficiency ⚠
- p.Gly204Ser Single submitter NIK deficiency ⚠
- p.Gly214= Single submitter NIK deficiency
- p.Gly214Asp Single submitter NIK deficiency ⚠
- p.Gly248Arg Single submitter NIK deficiency ⚠
- p.Gly326Asp Single submitter NIK deficiency ⚠
- p.Gly364Ala Single submitter NIK deficiency ⚠
- p.Gly409Cys Single submitter NIK deficiency ⚠
- p.Gly446Glu Single submitter NIK deficiency ⚠
- p.Gly462Glu Single submitter ⚠
- p.Gly475Ser Single submitter
- p.Gly497Ser Single submitter NIK deficiency ⚠
- p.Gly553Arg Single submitter NIK deficiency ⚠
- p.Gly553Trp Single submitter
- p.Gly570Cys Single submitter NIK deficiency ⚠
- p.Gly65Ser Single submitter NIK deficiency ⚠
- p.Gly699Ala Single submitter NIK deficiency ⚠
- p.His156Tyr Single submitter NIK deficiency ⚠
- p.His227Asn Single submitter NIK deficiency ⚠
- p.His243Tyr Single submitter NIK deficiency ⚠
- p.His402Arg Single submitter NIK deficiency ⚠
- p.His415Arg Single submitter NIK deficiency ⚠
- p.His415Tyr Single submitter NIK deficiency ⚠
- p.His829Tyr Single submitter NIK deficiency ⚠
- p.His940Arg Single submitter ⚠
- p.Ile100Val Single submitter ⚠
- p.Ile117Val Single submitter ⚠
- p.Ile865Val Single submitter NIK deficiency ⚠
- p.Leu22Phe Single submitter NIK deficiency ⚠
- p.Leu233Trp Single submitter NIK deficiency ⚠
- p.Leu272Phe Single submitter ⚠
- p.Leu551Val Single submitter NIK deficiency ⚠
- p.Leu606Phe Single submitter NIK deficiency ⚠
- p.Leu634Arg Single submitter NIK deficiency ⚠
- p.Leu647Val Single submitter NIK deficiency
- p.Lys128Arg Single submitter NIK deficiency ⚠
- p.Lys137Asn Single submitter NIK deficiency ⚠
- p.Lys148Asn Single submitter NIK deficiency ⚠
- p.Lys149del Single submitter NIK deficiency
- p.Lys163Arg Single submitter NIK deficiency ⚠
- p.Lys330Arg Single submitter NIK deficiency ⚠
- p.Lys607= Single submitter NIK deficiency
- p.Met417Lys Single submitter NIK deficiency ⚠
- p.Met442_Leu471dup Single submitter NIK deficiency
- p.Met4Ile Single submitter ⚠
- p.Met844Val Single submitter NIK deficiency ⚠
- p.Phe599Leu Single submitter NIK deficiency ⚠
- p.Phe600Leu Single submitter NIK deficiency ⚠
- p.Pro12Ser Single submitter NIK deficiency ⚠
- p.Pro164Ser Single submitter ⚠
- p.Pro194Ser Single submitter NIK deficiency ⚠
- p.Pro245Arg Single submitter NIK deficiency ⚠
- p.Pro257Ser Single submitter NIK deficiency ⚠
- p.Pro259Ser Single submitter NIK deficiency ⚠
- p.Pro274Ser Single submitter NIK deficiency ⚠
- p.Pro279Leu Single submitter NIK deficiency ⚠
- p.Pro295Arg Single submitter NIK deficiency ⚠
- p.Pro295Leu Single submitter NIK deficiency ⚠
- p.Pro297Ser Single submitter NIK deficiency ⚠
- p.Pro312Ala Single submitter NIK deficiency ⚠
- p.Pro312Thr Single submitter NIK deficiency ⚠
- p.Pro316Ser Single submitter ⚠
- p.Pro31Leu Single submitter NIK deficiency ⚠
- p.Pro454Ala Single submitter NIK deficiency ⚠
- p.Pro49Ala Single submitter NIK deficiency ⚠
- p.Pro620Ser Single submitter NIK deficiency ⚠
- p.Pro715His Single submitter NIK deficiency ⚠
- p.Pro851Leu Single submitter NIK deficiency ⚠
- p.Pro908Ser Single submitter NIK deficiency ⚠
- p.Pro928His Single submitter NIK deficiency
- p.Ser111Phe Single submitter ⚠
- p.Ser14Leu Single submitter NIK deficiency ⚠
- p.Ser151Leu Single submitter ⚠
- p.Ser153Tyr Single submitter NIK deficiency ⚠
- p.Ser261Arg Single submitter NIK deficiency ⚠
- p.Ser282Pro Single submitter NIK deficiency ⚠
- p.Ser365Phe Single submitter NIK deficiency ⚠
- p.Ser525Arg Single submitter NIK deficiency ⚠
- p.Ser572Thr Single submitter NIK deficiency ⚠
- p.Ser643Cys Single submitter NIK deficiency ⚠
- p.Ser796Leu Single submitter NIK deficiency
- p.Ser840Phe Single submitter ⚠
- p.Ser97Ter Single submitter
- p.Thr29Met Single submitter NIK deficiency ⚠
- p.Thr383Ala Single submitter NIK deficiency ⚠
- p.Thr552Lys Single submitter NIK deficiency ⚠
- p.Thr63Asn Single submitter NIK deficiency ⚠
- p.Thr852Ile Single submitter ⚠
- p.Trp240Leu Single submitter NIK deficiency ⚠
- p.Trp275Arg Single submitter NIK deficiency ⚠
- p.Val239= Single submitter NIK deficiency
- p.Val333Met Single submitter NIK deficiency ⚠
- p.Val345Met Single submitter NIK deficiency ⚠
- p.Val39Ile Single submitter NIK deficiency ⚠
- p.Val539Leu Single submitter NIK deficiency ⚠
- p.Val579Ile Single submitter NIK deficiency ⚠
- p.Val642Met Single submitter NIK deficiency ⚠
- p.Val828fs Single submitter
- p.Val828Ile Single submitter NIK deficiency ⚠