MMP14 — 362 ClinVar variants
All ClinVar germline MMP14 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 186 flagged for review →
2 Pathogenic · 1 Conflicting · 35 Benign · 2 Benign/Likely benign · 116 Likely benign · 206 Uncertain significance
Full MMP14 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 186
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
MMP14 p.Thr17Arg
Pathogenic
No assertion criteria
Winchester syndrome
Predictors agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
MMP14 p.Asp504Gly
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 133
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
MMP14 p.Ala165Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMP14 p.Ala366Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMP14 p.Ala539Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMP14 p.Ala539Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMP14 p.Arg343Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMP14 p.Arg362Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMP14 p.Arg513Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMP14 p.Arg513Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMP14 p.Arg564Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMP14 p.Arg570Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMP14 p.Arg89Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMP14 p.Asn452Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMP14 p.Asp320Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMP14 p.Gln489Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMP14 p.Glu169Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMP14 p.Glu248Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMP14 p.Glu338Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMP14 p.Glu448Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMP14 p.Glu531Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMP14 p.Gly469Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMP14 p.Leu25Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMP14 p.Leu419Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMP14 p.Pro294Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMP14 p.Pro514Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMP14 p.Thr522Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMP14 p.Val326Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMP14 p.Val546Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMP14 p.Val555Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMP14 p.Ala105Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MMP14 p.Ala113Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MMP14 p.Ala147Val
Uncertain significance
Single submitter
Winchester syndrome
-
MMP14 p.Ala165Val
Uncertain significance
Single submitter
Inborn genetic diseases
- MMP14 p.Ala21Thr Uncertain significance Single submitter
- MMP14 p.Ala21Val Uncertain significance Single submitter
- MMP14 p.Ala393Glu Uncertain significance Single submitter
-
MMP14 p.Ala444Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- MMP14 p.Ala444Val Uncertain significance Single submitter
- MMP14 p.Ala536Val Uncertain significance Single submitter
- MMP14 p.Ala541Val Uncertain significance Single submitter
- MMP14 p.Ala554Val Uncertain significance Single submitter
-
MMP14 p.Ala64Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MMP14 p.Ala66Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- MMP14 p.Ala82Gly Uncertain significance Single submitter
-
MMP14 p.Ala82Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- MMP14 p.Arg145His Uncertain significance Single submitter
- MMP14 p.Arg149His Uncertain significance Single submitter
- MMP14 p.Arg158His Uncertain significance Single submitter
- MMP14 p.Arg277Gln Uncertain significance Single submitter
- MMP14 p.Arg277Trp Uncertain significance Single submitter
- MMP14 p.Arg302Gln Uncertain significance Single submitter
- MMP14 p.Arg330Gln Uncertain significance Single submitter
- MMP14 p.Arg339His Uncertain significance Single submitter
- MMP14 p.Arg343Gln Uncertain significance Single submitter
- MMP14 p.Arg343Leu Uncertain significance Single submitter
- MMP14 p.Arg345Thr Uncertain significance Single submitter
- MMP14 p.Arg437Cys Uncertain significance Single submitter
-
MMP14 p.Arg51His
Uncertain significance
Single submitter
Inborn genetic diseases
- MMP14 p.Arg564His Uncertain significance Single submitter
- MMP14 p.Arg570Gly Uncertain significance Single submitter
- MMP14 p.Arg9His Uncertain significance Single submitter
-
MMP14 p.Arg9Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MMP14 p.Asn208Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- MMP14 p.Asn322Ser Uncertain significance Single submitter
- MMP14 p.Asp307Gly Uncertain significance Single submitter
-
MMP14 p.Asp376Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- MMP14 p.Asp391Asn Uncertain significance Single submitter
-
MMP14 p.Asp471Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- MMP14 p.Asp49Asn Uncertain significance Single submitter
-
MMP14 p.Asp515Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- MMP14 p.Asp530Glu Uncertain significance Single submitter
-
MMP14 p.Asp530Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MMP14 p.Gln29Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MMP14 p.Gln575Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- MMP14 p.Glu102Lys Uncertain significance Single submitter
- MMP14 p.Glu137Ala Uncertain significance Single submitter
- MMP14 p.Glu142Lys Uncertain significance Single submitter
- MMP14 p.Glu195Lys Uncertain significance Single submitter
- MMP14 p.Glu219Lys Uncertain significance Single submitter
- MMP14 p.Glu286Asp Uncertain significance Single submitter
-
MMP14 p.Glu373Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- MMP14 p.Glu440Lys Uncertain significance Single submitter
- MMP14 p.Glu531Asp Uncertain significance Single submitter
- MMP14 p.Gly26Ser Uncertain significance Single submitter
-
MMP14 p.Gly26Val
Uncertain significance
Single submitter
Inborn genetic diseases
- MMP14 p.Gly285Ser Uncertain significance Single submitter
- MMP14 p.Gly288Glu Uncertain significance Single submitter
- MMP14 p.Gly517Arg Uncertain significance Single submitter
- MMP14 p.Gly517Val Uncertain significance Single submitter
-
MMP14 p.Gly533Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- MMP14 p.Gly534Ser Uncertain significance Single submitter
- MMP14 p.Gly535Arg Uncertain significance Single submitter
- MMP14 p.His121Arg Uncertain significance Single submitter
- MMP14 p.His171Arg Uncertain significance Single submitter
-
MMP14 p.His239Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- MMP14 p.His402Tyr Uncertain significance Single submitter
- MMP14 p.Ile256Val Uncertain significance Single submitter
-
MMP14 p.Ile318Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
MMP14 p.Ile403Met
Uncertain significance
Single submitter
Inborn genetic diseases
- MMP14 p.Ile415Thr Uncertain significance Single submitter
- MMP14 p.Ile65Val Uncertain significance Single submitter
-
MMP14 p.Leu117Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- MMP14 p.Leu15Val Uncertain significance Single submitter
- MMP14 p.Lys310Arg Uncertain significance Single submitter
- MMP14 p.Lys426Thr Uncertain significance Single submitter
- MMP14 p.Met350Ile Uncertain significance Single submitter
-
MMP14 p.Met468Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- MMP14 p.Phe180Val Uncertain significance Single submitter
- MMP14 p.Phe381Leu Uncertain significance Single submitter
- MMP14 p.Pro14Ser Uncertain significance Single submitter
-
MMP14 p.Pro297Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- MMP14 p.Pro297Thr Uncertain significance Single submitter
- MMP14 p.Pro354Leu Uncertain significance Single submitter
-
MMP14 p.Pro356Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- MMP14 p.Pro356Ser Uncertain significance Single submitter
-
MMP14 p.Pro3Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- MMP14 p.Pro3Leu Uncertain significance Single submitter
- MMP14 p.Ser301Phe Uncertain significance Single submitter
-
MMP14 p.Ser510Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MMP14 p.Thr190Met
Uncertain significance
Single submitter
Inborn genetic diseases
- MMP14 p.Thr222Ala Uncertain significance Single submitter
- MMP14 p.Thr222Ile Uncertain significance Single submitter
-
MMP14 p.Thr325Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- MMP14 p.Thr522Arg Uncertain significance Single submitter
- MMP14 p.Thr54Ala Uncertain significance Single submitter
- MMP14 p.Thr54Pro Uncertain significance Single submitter
- MMP14 p.Thr567Ile Uncertain significance Single submitter
-
MMP14 p.Thr77Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
MMP14 p.Tyr314Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- MMP14 p.Tyr497His Uncertain significance Single submitter
- MMP14 p.Val107Ile Uncertain significance Single submitter
- MMP14 p.Val150Met Uncertain significance Single submitter
- MMP14 p.Val238Leu Uncertain significance Single submitter
- MMP14 p.Val546Leu Uncertain significance Single submitter
Predictors split 51
The independent predictors disagree with each other — read with care.
- MMP14 p.Ala37Pro Likely benign Multiple submitters
-
MMP14 p.Arg168Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMP14 p.Asn439Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMP14 p.Glu36Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMP14 p.Gly398Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMP14 p.Gly480Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMP14 p.Ile357Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MMP14 p.Met355Ile Benign Multiple submitters
- MMP14 p.Phe562Leu Uncertain significance Multiple submitters
-
MMP14 p.Ser31Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MMP14 p.Ala327Val Uncertain significance Single submitter
- MMP14 p.Arg149Cys Uncertain significance Single submitter
- MMP14 p.Arg158Cys Uncertain significance Single submitter
- MMP14 p.Arg160His Uncertain significance Single submitter
- MMP14 p.Arg276His Uncertain significance Single submitter
- MMP14 p.Arg277Pro Uncertain significance Single submitter
- MMP14 p.Arg302Trp Uncertain significance Single submitter
-
MMP14 p.Arg51Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- MMP14 p.Arg569Ser Uncertain significance Single submitter
- MMP14 p.Arg576His Uncertain significance Single submitter
- MMP14 p.Arg90His Uncertain significance Single submitter
-
MMP14 p.Asn424Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MMP14 p.Asn487Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MMP14 p.Asn488Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- MMP14 p.Asp351Gly Uncertain significance Single submitter
- MMP14 p.Asp580Asn Uncertain significance Single submitter
- MMP14 p.Cys574Tyr Uncertain significance Single submitter
- MMP14 p.Glu183Lys Uncertain significance Single submitter
-
MMP14 p.Glu373Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- MMP14 p.Gly100Ala Likely benign Single submitter
- MMP14 p.Gly184Arg Uncertain significance Single submitter
- MMP14 p.Gly48Arg Uncertain significance Single submitter
- MMP14 p.Ile209Met Uncertain significance Single submitter
-
MMP14 p.Ile527Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MMP14 p.Phe181Ser
Uncertain significance
Single submitter
Winchester syndrome
- MMP14 p.Phe467Leu Uncertain significance Single submitter
-
MMP14 p.Pro220Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MMP14 p.Pro272Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- MMP14 p.Pro312His Uncertain significance Single submitter
- MMP14 p.Pro46Ser Uncertain significance Single submitter
- MMP14 p.Pro46Thr Uncertain significance Single submitter
- MMP14 p.Pro495Leu Uncertain significance Single submitter
- MMP14 p.Ser217Cys Uncertain significance Single submitter
- MMP14 p.Ser254Leu Uncertain significance Single submitter
-
MMP14 p.Ser34Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- MMP14 p.Ser60Pro Uncertain significance Single submitter
- MMP14 p.Ser62Leu Uncertain significance Single submitter
- MMP14 p.Thr266Met Uncertain significance Single submitter
- MMP14 p.Val445Met Uncertain significance Single submitter
- MMP14 p.Val542Met Uncertain significance Single submitter
- MMP14 p.Val582Phe Uncertain significance Single submitter
All MMP14 variants
Pathogenic 2
- p.Arg111His No assertion criteria Winchester syndrome
- p.Thr17Arg No assertion criteria Winchester syndrome ⚠
Conflicting classifications of pathogenicity 1
- p.Asp504Gly Single submitter Inborn genetic diseases ⚠
Benign 35
- c.1011+103A>G Multiple submitters
- c.1012-193C>G Multiple submitters
- c.108+205C>T Multiple submitters
- c.108+208C>A Multiple submitters
- c.1417+100C>T Multiple submitters
- c.258-78T>C Multiple submitters
- c.381-139G>A Multiple submitters
- c.688+20G>A Multiple submitters
- c.689-171A>G Multiple submitters
- c.850+91C>T Multiple submitters
- c.851-44G>C Multiple submitters
- c.851-50G>T Multiple submitters
- c.851-56C>G Multiple submitters
- c.*13G>T Multiple submitters
- c.*83T>C Multiple submitters
- p.Ala4Thr Multiple submitters
- p.Asp273Asn Multiple submitters
- p.Gly285= Multiple submitters
- p.Ile233Val Multiple submitters
- p.Met355Ile Multiple submitters ⚠
- p.Phe429= Multiple submitters
- p.Pro259= Multiple submitters
- p.Pro8Ser Multiple submitters
- c.1012-163del Single submitter
- c.108+203_108+204del Single submitter
- c.109-215C>T Single submitter
- c.258-78del Single submitter
- c.688+51G>T Single submitter
- c.689-66G>A Single submitter
- c.-44G>C Single submitter
- p.Ala218= Single submitter
- p.Arg374= Single submitter
- p.Arg431His Single submitter
- p.Gln69= Single submitter
- c.*9G>A No assertion criteria MMP14-related disorder
Likely benign 116
- c.381-16C>T Multiple submitters
- c.850+19C>T Multiple submitters
- p.Ala37Pro Multiple submitters ⚠
- c.1011+10A>G Single submitter
- c.1011+17T>C Single submitter
- c.1011+19G>C Single submitter
- c.108+16G>C Single submitter
- c.108+16G>T Single submitter
- c.108+20C>A Single submitter
- c.109-14C>T Single submitter
- c.109-18A>G Single submitter
- c.1150+11dup Single submitter
- c.1150+7A>T Single submitter
- c.1151-4C>A Single submitter
- c.1302-18T>G Single submitter
- c.1302-19T>G Single submitter
- c.1302-6C>T Single submitter
- c.1417+8G>C Single submitter
- c.257+14C>T Single submitter
- c.257+19C>T Single submitter
- c.258-11A>T Single submitter
- c.258-19G>A Single submitter
- c.258-7A>T Single submitter
- c.380+11C>T Single submitter
- c.380+11dup Single submitter
- c.381-15G>A Single submitter
- c.381-5C>T Single submitter
- c.688+11_688+19del Single submitter
- c.688+15C>G Single submitter
- c.688+19G>C Single submitter
- c.689-7C>T Single submitter
- c.850+10C>A Single submitter
- c.850+13C>T Single submitter
- c.850+20G>A Single submitter
- c.851-16G>A Single submitter
- c.851-17C>T Single submitter
- c.851-6C>T Single submitter
- p.Ala101= Single submitter
- p.Ala147= Single submitter
- p.Ala182= Single submitter
- p.Ala393= Single submitter
- p.Ala539= Single submitter
- p.Ala541= Single submitter
- p.Ala554= Single submitter
- p.Ala63= Single submitter
- p.Arg160= Single submitter
- p.Arg339= Single submitter
- p.Arg408Gln Single submitter
- p.Arg51= Single submitter
- p.Arg513= Single submitter
- p.Arg92= Single submitter
- p.Asn106= Single submitter
- p.Asn439= Single submitter
- p.Asn481= Single submitter
- p.Asp252= Single submitter
- p.Asp320= Single submitter
- p.Asp580= Single submitter
- p.Gln281= Single submitter
- p.Gln41= Single submitter
- p.Gln55= Single submitter
- p.Glu169= Single submitter
- p.Glu286= Single submitter
- p.Glu286Lys Single submitter Inborn genetic diseases
- p.Glu338= Single submitter
- p.Glu519= Single submitter
- p.Glu521= Single submitter
- p.Glu523= Single submitter
- p.Gly100Ala Single submitter ⚠
- p.Gly136= Single submitter
- p.Gly187= Single submitter
- p.Gly196= Single submitter
- p.Gly358= Single submitter
- p.Gly533= Single submitter
- p.His214= Single submitter
- p.His239= Single submitter
- p.Ile209= Single submitter
- p.Ile233= Single submitter
- p.Ile65= Single submitter
- p.Leu12= Single submitter
- p.Leu241= Single submitter
- p.Leu245= Single submitter
- p.Leu271= Single submitter
- p.Leu551= Single submitter
- p.Leu572= Single submitter
- p.Leu61= Single submitter
- p.Lys404= Single submitter
- p.Lys414= Single submitter
- p.Lys98= Single submitter
- p.Phe198= Single submitter
- p.Phe379= Single submitter
- p.Pro14= Single submitter
- p.Pro272= Single submitter
- p.Pro35= Single submitter
- p.Pro47= Single submitter
- p.Pro514= Single submitter
- p.Pro545= Single submitter
- p.Ser189= Single submitter
- p.Ser254= Single submitter
- p.Ser27= Single submitter
- p.Ser31= Single submitter
- p.Ser470= Single submitter
- p.Ser538= Single submitter
- p.Ser57= Single submitter
- p.Ser577= Single submitter
- p.Thr190= Single submitter
- p.Thr266= Single submitter
- p.Thr325= Single submitter
- p.Thr412= Single submitter
- p.Thr427= Single submitter
- p.Thr522= Single submitter
- p.Thr54= Single submitter
- p.Tyr112= Single submitter
- p.Tyr436= Single submitter
- p.Tyr476= Single submitter
- p.Tyr478= Single submitter
- p.Tyr72= Single submitter
Uncertain significance 206
- c.850+2C>T Multiple submitters Winchester syndrome
- p.Ala165Asp Multiple submitters Inborn genetic diseases ⚠
- p.Ala366Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala539Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala539Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg168Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg343Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg362Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg513Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg513Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg564Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg570Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg89Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asn439Thr Multiple submitters Inborn genetic diseases ⚠
- p.Asn452Asp Multiple submitters Inborn genetic diseases ⚠
- p.Asp320Asn Multiple submitters Inborn genetic diseases ⚠
- p.Gln489Arg Multiple submitters Inborn genetic diseases ⚠
- p.Glu169Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu248Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu338Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu36Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu448Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu531Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly398Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly469Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly480Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ile357Thr Multiple submitters Inborn genetic diseases ⚠
- p.Leu25Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu419Val Multiple submitters Inborn genetic diseases ⚠
- p.Phe562Leu Multiple submitters ⚠
- p.Pro294Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro514Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser31Cys Multiple submitters Inborn genetic diseases ⚠
- p.Thr522Met Multiple submitters Inborn genetic diseases ⚠
- p.Val326Met Multiple submitters Inborn genetic diseases ⚠
- p.Val546Met Multiple submitters Inborn genetic diseases ⚠
- p.Val555Met Multiple submitters Inborn genetic diseases ⚠
- c.1012-10C>A Single submitter
- c.1012-18G>T Single submitter
- c.1150+2T>C Single submitter
- c.850+3G>A Single submitter
- c.851-3C>A Single submitter
- p.Ala105Val Single submitter Inborn genetic diseases ⚠
- p.Ala113Thr Single submitter Inborn genetic diseases ⚠
- p.Ala147Val Single submitter Winchester syndrome ⚠
- p.Ala165Val Single submitter Inborn genetic diseases ⚠
- p.Ala218Thr Single submitter
- p.Ala21Thr Single submitter ⚠
- p.Ala21Val Single submitter ⚠
- p.Ala327Val Single submitter ⚠
- p.Ala393Glu Single submitter ⚠
- p.Ala444Thr Single submitter Inborn genetic diseases ⚠
- p.Ala444Val Single submitter ⚠
- p.Ala536Val Single submitter ⚠
- p.Ala541Val Single submitter ⚠
- p.Ala554Val Single submitter ⚠
- p.Ala64del Single submitter
- p.Ala64Val Single submitter Inborn genetic diseases ⚠
- p.Ala66Thr Single submitter Inborn genetic diseases ⚠
- p.Ala82Gly Single submitter ⚠
- p.Ala82Thr Single submitter Inborn genetic diseases ⚠
- p.Arg145His Single submitter ⚠
- p.Arg149Cys Single submitter ⚠
- p.Arg149His Single submitter ⚠
- p.Arg158Cys Single submitter ⚠
- p.Arg158His Single submitter ⚠
- p.Arg160His Single submitter ⚠
- p.Arg276Cys Single submitter
- p.Arg276His Single submitter ⚠
- p.Arg277Gln Single submitter ⚠
- p.Arg277Pro Single submitter ⚠
- p.Arg277Trp Single submitter ⚠
- p.Arg302Gln Single submitter ⚠
- p.Arg302Trp Single submitter ⚠
- p.Arg330Gln Single submitter ⚠
- p.Arg339His Single submitter ⚠
- p.Arg343Gln Single submitter ⚠
- p.Arg343Leu Single submitter ⚠
- p.Arg345Thr Single submitter ⚠
- p.Arg437Cys Single submitter ⚠
- p.Arg51Cys Single submitter Inborn genetic diseases ⚠
- p.Arg51His Single submitter Inborn genetic diseases ⚠
- p.Arg564His Single submitter ⚠
- p.Arg569Ser Single submitter ⚠
- p.Arg570Gly Single submitter ⚠
- p.Arg576His Single submitter ⚠
- p.Arg90His Single submitter ⚠
- p.Arg92Ter Single submitter
- p.Arg9His Single submitter ⚠
- p.Arg9Ser Single submitter Inborn genetic diseases ⚠
- p.Asn208Ser Single submitter Inborn genetic diseases ⚠
- p.Asn229= Single submitter
- p.Asn322Ser Single submitter ⚠
- p.Asn424Ser Single submitter Inborn genetic diseases ⚠
- p.Asn487Ser Single submitter Inborn genetic diseases ⚠
- p.Asn488Lys Single submitter Inborn genetic diseases ⚠
- p.Asp273Ser Single submitter
- p.Asp307Gly Single submitter ⚠
- p.Asp324Phe Single submitter
- p.Asp351Gly Single submitter ⚠
- p.Asp376Gly Single submitter Inborn genetic diseases ⚠
- p.Asp385Tyr Single submitter Inborn genetic diseases
- p.Asp391Asn Single submitter ⚠
- p.Asp471Asn Single submitter Inborn genetic diseases ⚠
- p.Asp49Asn Single submitter ⚠
- p.Asp515Gly Single submitter Inborn genetic diseases ⚠
- p.Asp530Glu Single submitter ⚠
- p.Asp530Gly Single submitter Inborn genetic diseases ⚠
- p.Asp580Asn Single submitter ⚠
- p.Cys574Tyr Single submitter ⚠
- p.Gln262Arg Single submitter
- p.Gln296Ter Single submitter
- p.Gln29Glu Single submitter Inborn genetic diseases ⚠
- p.Gln575Arg Single submitter Inborn genetic diseases ⚠
- p.Glu102Lys Single submitter ⚠
- p.Glu137Ala Single submitter ⚠
- p.Glu142Lys Single submitter ⚠
- p.Glu183Lys Single submitter ⚠
- p.Glu195Lys Single submitter ⚠
- p.Glu219Lys Single submitter ⚠
- p.Glu286Asp Single submitter ⚠
- p.Glu373Gln Single submitter Inborn genetic diseases ⚠
- p.Glu373Lys Single submitter Inborn genetic diseases ⚠
- p.Glu440Lys Single submitter ⚠
- p.Glu531Asp Single submitter ⚠
- p.Gly184Arg Single submitter ⚠
- p.Gly26Ser Single submitter ⚠
- p.Gly26Val Single submitter Inborn genetic diseases ⚠
- p.Gly285Ser Single submitter ⚠
- p.Gly288Glu Single submitter ⚠
- p.Gly409Glu Single submitter
- p.Gly432Glu Single submitter
- p.Gly48Arg Single submitter ⚠
- p.Gly517Arg Single submitter ⚠
- p.Gly517Val Single submitter ⚠
- p.Gly533Asp Single submitter Inborn genetic diseases ⚠
- p.Gly534Ser Single submitter ⚠
- p.Gly535Arg Single submitter ⚠
- p.His121Arg Single submitter ⚠
- p.His171Arg Single submitter ⚠
- p.His239Gln Single submitter Inborn genetic diseases ⚠
- p.His402Tyr Single submitter ⚠
- p.Ile209Met Single submitter ⚠
- p.Ile256Val Single submitter ⚠
- p.Ile318Met Single submitter Inborn genetic diseases ⚠
- p.Ile403Met Single submitter Inborn genetic diseases ⚠
- p.Ile415Thr Single submitter ⚠
- p.Ile527del Single submitter
- p.Ile527Thr Single submitter Inborn genetic diseases ⚠
- p.Ile65Val Single submitter ⚠
- p.Leu117Ile Single submitter Inborn genetic diseases ⚠
- p.Leu15Val Single submitter ⚠
- p.Lys310Arg Single submitter ⚠
- p.Lys426Thr Single submitter ⚠
- p.Lys434= Single submitter
- p.Met350Ile Single submitter ⚠
- p.Met468Thr Single submitter Inborn genetic diseases ⚠
- p.Phe180Val Single submitter ⚠
- p.Phe181Ser Single submitter Winchester syndrome ⚠
- p.Phe381Leu Single submitter ⚠
- p.Phe467Leu Single submitter ⚠
- p.Phe562del Single submitter
- p.Pro14Ser Single submitter ⚠
- p.Pro220Arg Single submitter Inborn genetic diseases ⚠
- p.Pro272Ala Single submitter Inborn genetic diseases ⚠
- p.Pro297Ser Single submitter Inborn genetic diseases ⚠
- p.Pro297Thr Single submitter ⚠
- p.Pro312His Single submitter ⚠
- p.Pro354Leu Single submitter ⚠
- p.Pro356Leu Single submitter Inborn genetic diseases ⚠
- p.Pro356Ser Single submitter ⚠
- p.Pro3Ala Single submitter Inborn genetic diseases ⚠
- p.Pro3Leu Single submitter ⚠
- p.Pro46Ser Single submitter ⚠
- p.Pro46Thr Single submitter ⚠
- p.Pro495Leu Single submitter ⚠
- p.Pro7fs Single submitter
- p.Ser217Cys Single submitter ⚠
- p.Ser254Leu Single submitter ⚠
- p.Ser301Phe Single submitter ⚠
- p.Ser34Gly Single submitter Inborn genetic diseases ⚠
- p.Ser510Leu Single submitter Inborn genetic diseases ⚠
- p.Ser60Pro Single submitter ⚠
- p.Ser62Leu Single submitter ⚠
- p.Thr190Met Single submitter Inborn genetic diseases ⚠
- p.Thr222Ala Single submitter ⚠
- p.Thr222Ile Single submitter ⚠
- p.Thr266Met Single submitter ⚠
- p.Thr313_Pro316del Single submitter
- p.Thr325Ile Single submitter Inborn genetic diseases ⚠
- p.Thr522Arg Single submitter ⚠
- p.Thr54Ala Single submitter ⚠
- p.Thr54Pro Single submitter ⚠
- p.Thr567Ile Single submitter ⚠
- p.Thr77Ile Single submitter Inborn genetic diseases ⚠
- p.Trp484Ter Single submitter
- p.Tyr314Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr497His Single submitter ⚠
- p.Val107Ile Single submitter ⚠
- p.Val150Met Single submitter ⚠
- p.Val238Leu Single submitter ⚠
- p.Val445Met Single submitter ⚠
- p.Val542Met Single submitter ⚠
- p.Val546_Leu547insValLeuProVal Single submitter
- p.Val546Leu Single submitter ⚠
- p.Val582Phe Single submitter ⚠