MAP4K4 — 246 ClinVar variants
All ClinVar germline MAP4K4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 139 flagged for review →
4 Pathogenic · 1 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 1 Conflicting · 44 Benign · 11 Likely benign · 175 Uncertain significance
Full MAP4K4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 139
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.
-
MAP4K4 p.Arg565Gln
Likely pathogenic
Single submitter
arteriovenous malformations of the brain
Predictors agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
MAP4K4 p.Ala566Val
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 95
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
MAP4K4 p.Ala491Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAP4K4 p.Arg1135Cys
Uncertain significance
Multiple submitters
RASopathy
-
MAP4K4 p.Ser758Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAP4K4 p.Ala614Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP4K4 p.Ala728Glu Uncertain significance Single submitter
- MAP4K4 p.Ala83Gly Uncertain significance Single submitter
-
MAP4K4 p.Arg1037Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.Arg1064Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.Arg1064Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP4K4 p.Arg1109Gly Uncertain significance Single submitter
-
MAP4K4 p.Arg1135His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.Arg1228Lys
Uncertain significance
Single submitter
MAP4K4-related disorder
-
MAP4K4 p.Arg1294Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.Arg1354Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.Arg1364Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.Arg1364Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.Arg353Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.Arg371Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.Arg437His
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP4K4 p.Arg529Lys Uncertain significance Single submitter
-
MAP4K4 p.Arg797His
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP4K4 p.Asp1029Ala Uncertain significance Single submitter
- MAP4K4 p.Asp14Asn Uncertain significance Single submitter
- MAP4K4 p.Asp14Tyr Uncertain significance Single submitter
-
MAP4K4 p.Asp153Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.Asp822Val
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP4K4 p.Cys1352Tyr Uncertain significance Single submitter
- MAP4K4 p.Gln1057Leu Uncertain significance Single submitter
-
MAP4K4 p.Gln1057Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP4K4 p.Gln1302Pro Uncertain significance Single submitter
- MAP4K4 p.Gln584His Uncertain significance Single submitter
-
MAP4K4 p.Gln730Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.Glu267Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP4K4 p.Glu337Asp Uncertain significance Single submitter
- MAP4K4 p.Glu620Gly Uncertain significance Single submitter
-
MAP4K4 p.Gly1017Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP4K4 p.Gly1044Val Uncertain significance Single submitter
-
MAP4K4 p.Gly122Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP4K4 p.Gly229Arg Uncertain significance Single submitter
- MAP4K4 p.Gly23Ala Uncertain significance Single submitter
-
MAP4K4 p.Gly722Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.His1214Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP4K4 p.His44Leu Uncertain significance Single submitter
-
MAP4K4 p.His532Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.His552Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.His559Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP4K4 p.Ile1012Met Uncertain significance Single submitter
-
MAP4K4 p.Ile1036Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.Ile1184Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP4K4 p.Ile1269Thr Uncertain significance Single submitter
-
MAP4K4 p.Ile146Val
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP4K4 p.Leu116Pro Uncertain significance Single submitter
- MAP4K4 p.Leu1212Ser Uncertain significance Single submitter
- MAP4K4 p.Leu1376Phe Uncertain significance Single submitter
-
MAP4K4 p.Leu253Met
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP4K4 p.Leu27Gln Uncertain significance Single submitter
- MAP4K4 p.Leu376Pro Uncertain significance Single submitter
-
MAP4K4 p.Leu438Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.Leu592Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.Leu718Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP4K4 p.Lys1172Gln Uncertain significance Single submitter
-
MAP4K4 p.Lys1357Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP4K4 p.Met1374Val Uncertain significance Single submitter
- MAP4K4 p.Met195Lys Uncertain significance Single submitter
- MAP4K4 p.Met72Val Uncertain significance Single submitter
- MAP4K4 p.Phe265Ser Uncertain significance Single submitter
- MAP4K4 p.Pro1197Arg Uncertain significance Single submitter
- MAP4K4 p.Pro1255Arg Uncertain significance Single submitter
- MAP4K4 p.Pro1255Ser Uncertain significance Single submitter
-
MAP4K4 p.Pro334Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.Pro531Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.Pro539Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.Pro540Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP4K4 p.Pro618Arg Uncertain significance Single submitter
- MAP4K4 p.Pro794Ser Uncertain significance Single submitter
-
MAP4K4 p.Pro805Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.Pro805Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP4K4 p.Pro94Leu Uncertain significance Single submitter
-
MAP4K4 p.Ser1000Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.Ser1261Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP4K4 p.Ser759Leu Uncertain significance Single submitter
-
MAP4K4 p.Ser93Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.Ser990Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP4K4 p.Thr1002Ile Uncertain significance Single submitter
-
MAP4K4 p.Thr1088Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.Thr1333Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.Thr162Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.Thr187Met
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP4K4 p.Thr191Pro Uncertain significance Single submitter
-
MAP4K4 p.Thr351Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.Thr47Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.Thr985Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.Val893Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.Val902Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.Val918Ile
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 42
The independent predictors disagree with each other — read with care.
-
MAP4K4 p.Leu742Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAP4K4 p.Ala1078Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.Ala1205Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.Ala369Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.Ala454Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.Arg382Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.Arg425Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP4K4 p.Arg740Ser Uncertain significance Single submitter
- MAP4K4 p.Arg745Ser Uncertain significance Single submitter
-
MAP4K4 p.Asn294Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP4K4 p.Asp1274Gly Uncertain significance Single submitter
- MAP4K4 p.Asp1298Glu Uncertain significance Single submitter
- MAP4K4 p.Asp20Glu Uncertain significance Single submitter
-
MAP4K4 p.Gln377Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.Gln427Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.Glu416Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP4K4 p.Glu433Gly Uncertain significance Single submitter
-
MAP4K4 p.Glu434Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP4K4 p.Glu439Gly Uncertain significance Single submitter
- MAP4K4 p.Glu780Lys Uncertain significance Single submitter
- MAP4K4 p.Gly338Ala Uncertain significance Single submitter
-
MAP4K4 p.Gly720Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.His1170Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.Ile468Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.Leu1301Val
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP4K4 p.Lys257Arg Uncertain significance Single submitter
- MAP4K4 p.Lys364Arg Uncertain significance Single submitter
-
MAP4K4 p.Met1276Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.Met896Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP4K4 p.Phe603Leu Uncertain significance Single submitter
- MAP4K4 p.Pro1264Leu Uncertain significance Single submitter
- MAP4K4 p.Ser1090Cys Uncertain significance Single submitter
- MAP4K4 p.Ser5Tyr Uncertain significance Single submitter
- MAP4K4 p.Ser726Arg Uncertain significance Single submitter
- MAP4K4 p.Ser762Arg Uncertain significance Single submitter
-
MAP4K4 p.Ser886Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.Thr1054Ser
Uncertain significance
Single submitter
MAP4K4-related autism spectrum disorder
- MAP4K4 p.Thr1161Ala Uncertain significance Single submitter
-
MAP4K4 p.Thr124Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.Val1162Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP4K4 p.Val11Met
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP4K4 p.Val55Ile Uncertain significance Single submitter
All MAP4K4 variants
Pathogenic 4
- p.Gln402Ter Single submitter Inborn genetic diseases
- p.Glu127fs Single submitter Inborn genetic diseases
- p.Gly173Asp Single submitter Inborn genetic diseases
- p.Tyr210Cys Single submitter Inborn genetic diseases
Pathogenic/Likely pathogenic 1
- p.Arg1329Ter Multiple submitters Inborn genetic diseases
Likely pathogenic 10
- p.Arg152Gln Single submitter MAP4K4-related disorder
- p.Arg354Ter Single submitter
- p.Arg565Gln Single submitter arteriovenous malformations of the brain ⚠
- p.Asp203Gly Single submitter Inborn genetic diseases
- p.Gln100Ter Single submitter early-onset non-syndromic cataract
- p.Leu18fs Single submitter
- p.Lys54Arg Single submitter Inborn genetic diseases
- p.Met195Val Single submitter
- p.Phe172Ile Single submitter MAP4K4-related neurodevelopmental delay
- p.Val1153fs Single submitter imperforate anus
Conflicting classifications of pathogenicity 1
- p.Ala566Val Single submitter Inborn genetic diseases ⚠
Benign 44
- c.1022+125A>G Multiple submitters
- c.123+57A>G Multiple submitters
- c.1234-81C>G Multiple submitters
- c.124-148A>G Multiple submitters
- c.1866+210G>A Multiple submitters
- c.1866+5C>T Multiple submitters
- c.2356+136A>T Multiple submitters
- c.2454+112T>G Multiple submitters
- c.2639+174A>G Multiple submitters
- c.2639+176A>G Multiple submitters
- c.2761-94A>T Multiple submitters
- c.306+208G>A Multiple submitters
- c.3071-78C>T Multiple submitters
- c.3241+38G>C Multiple submitters
- c.3242-13G>A Multiple submitters
- c.3521-137G>C Multiple submitters
- c.3521-60T>G Multiple submitters
- c.3621+142A>G Multiple submitters
- c.3931+164T>A Multiple submitters
- c.3931+40G>A Multiple submitters
- c.3932-130T>A Multiple submitters
- c.4071+37A>G Multiple submitters
- c.418-73A>G Multiple submitters
- c.57+163C>T Multiple submitters
- c.57+19G>A Multiple submitters
- c.640-140C>A Multiple submitters
- c.694+143G>A Multiple submitters
- c.773+92C>T Multiple submitters
- c.-106T>C Multiple submitters
- p.Glu418= Multiple submitters
- p.Ile1269= Multiple submitters
- p.Pro533= Multiple submitters
- c.1234-214G>T Single submitter
- c.180+172C>T Single submitter
- c.181-224G>A Single submitter
- c.3622-44del Single submitter
- c.3622-45_3622-44del Single submitter
- c.418-161T>G Single submitter
- c.57+35GGCAGCC[4] Single submitter
- c.57+38del Single submitter
- c.640-174_640-167dup Single submitter
- c.640-4G>A Single submitter
- c.-149GCC[5] Single submitter
- c.-363_-362dup Single submitter
Likely benign 11
- c.124-3C>T Multiple submitters
- p.Ala619Val Single submitter Inborn genetic diseases
- p.Ala982Thr Single submitter Inborn genetic diseases
- p.Arg781Cys Single submitter Inborn genetic diseases
- p.Asn1108Ser Single submitter Inborn genetic diseases
- p.Glu440Asp Single submitter Inborn genetic diseases
- p.Pro533Leu Single submitter Inborn genetic diseases
- p.Ser1027Ala Single submitter Inborn genetic diseases
- p.Ser736= Single submitter Inborn genetic diseases
- p.Tyr85= Single submitter
- p.Val481Ile Single submitter Inborn genetic diseases
Uncertain significance 175
- p.Ala491Pro Multiple submitters Inborn genetic diseases ⚠
- p.Arg1135Cys Multiple submitters RASopathy ⚠
- p.Leu742Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ser758Phe Multiple submitters Inborn genetic diseases ⚠
- c.1867-1G>A Single submitter
- c.2204+3A>G Single submitter Inborn genetic diseases
- c.2454+2T>A Single submitter
- c.306+5G>A Single submitter
- c.307-2A>G Single submitter
- c.3070+5G>A Single submitter
- c.58-2A>C Single submitter Inborn genetic diseases
- p.Ala1078Ser Single submitter Inborn genetic diseases ⚠
- p.Ala1205Ser Single submitter Inborn genetic diseases ⚠
- p.Ala369Pro Single submitter Inborn genetic diseases ⚠
- p.Ala454Thr Single submitter Inborn genetic diseases ⚠
- p.Ala614Thr Single submitter Inborn genetic diseases ⚠
- p.Ala680delinsLeuTer Single submitter
- p.Ala728Glu Single submitter ⚠
- p.Ala83Gly Single submitter ⚠
- p.Arg1037Lys Single submitter Inborn genetic diseases ⚠
- p.Arg1064Cys Single submitter Inborn genetic diseases ⚠
- p.Arg1064Gly Single submitter Inborn genetic diseases ⚠
- p.Arg1109Gly Single submitter ⚠
- p.Arg1135His Single submitter Inborn genetic diseases ⚠
- p.Arg1228Lys Single submitter MAP4K4-related disorder ⚠
- p.Arg1294Gly Single submitter Inborn genetic diseases ⚠
- p.Arg1354Cys Single submitter Inborn genetic diseases ⚠
- p.Arg1364Gly Single submitter Inborn genetic diseases ⚠
- p.Arg1364Trp Single submitter Inborn genetic diseases ⚠
- p.Arg353Gly Single submitter Inborn genetic diseases ⚠
- p.Arg371Trp Single submitter Inborn genetic diseases ⚠
- p.Arg382Leu Single submitter Inborn genetic diseases ⚠
- p.Arg395fs Single submitter
- p.Arg425Cys Single submitter Inborn genetic diseases ⚠
- p.Arg437del Single submitter
- p.Arg437His Single submitter Inborn genetic diseases ⚠
- p.Arg529Lys Single submitter ⚠
- p.Arg740Ser Single submitter ⚠
- p.Arg745Ser Single submitter ⚠
- p.Arg797His Single submitter Inborn genetic diseases ⚠
- p.Asn294Ser Single submitter Inborn genetic diseases ⚠
- p.Asp1029Ala Single submitter ⚠
- p.Asp1274Gly Single submitter ⚠
- p.Asp1298Glu Single submitter ⚠
- p.Asp14Asn Single submitter ⚠
- p.Asp14Tyr Single submitter ⚠
- p.Asp153Gly Single submitter Inborn genetic diseases ⚠
- p.Asp20Glu Single submitter ⚠
- p.Asp675_Ser676del Single submitter
- p.Asp822Val Single submitter Inborn genetic diseases ⚠
- p.Cys1352Tyr Single submitter ⚠
- p.Gln1057Leu Single submitter ⚠
- p.Gln1057Pro Single submitter Inborn genetic diseases ⚠
- p.Gln1302Pro Single submitter ⚠
- p.Gln377Arg Single submitter Inborn genetic diseases ⚠
- p.Gln427Arg Single submitter Inborn genetic diseases ⚠
- p.Gln538Ter Single submitter
- p.Gln584His Single submitter ⚠
- p.Gln730Leu Single submitter Inborn genetic diseases ⚠
- p.Gln925Lys Single submitter Inborn genetic diseases
- p.Glu1211Ter Single submitter
- p.Glu267Lys Single submitter Inborn genetic diseases ⚠
- p.Glu337Asp Single submitter ⚠
- p.Glu416Gly Single submitter Inborn genetic diseases ⚠
- p.Glu433Gly Single submitter ⚠
- p.Glu434Gly Single submitter Inborn genetic diseases ⚠
- p.Glu439Gly Single submitter ⚠
- p.Glu60= Single submitter
- p.Glu620Gly Single submitter ⚠
- p.Glu695Lys Single submitter
- p.Glu780Lys Single submitter ⚠
- p.Glu984= Single submitter
- p.Gly1017Arg Single submitter Inborn genetic diseases ⚠
- p.Gly1044Val Single submitter ⚠
- p.Gly122Arg Single submitter Inborn genetic diseases ⚠
- p.Gly229Arg Single submitter ⚠
- p.Gly23Ala Single submitter ⚠
- p.Gly314Ser Single submitter
- p.Gly338Ala Single submitter ⚠
- p.Gly720Arg Single submitter Inborn genetic diseases ⚠
- p.Gly722Arg Single submitter Inborn genetic diseases ⚠
- p.Gly914Asp Single submitter
- p.Gly938Ser Single submitter Inborn genetic diseases
- p.His1170Tyr Single submitter Inborn genetic diseases ⚠
- p.His1214Pro Single submitter Inborn genetic diseases ⚠
- p.His44Leu Single submitter ⚠
- p.His532Tyr Single submitter Inborn genetic diseases ⚠
- p.His552Arg Single submitter Inborn genetic diseases ⚠
- p.His559Arg Single submitter Inborn genetic diseases ⚠
- p.His931Arg Single submitter Inborn genetic diseases
- p.Ile1012Met Single submitter ⚠
- p.Ile1036Val Single submitter Inborn genetic diseases ⚠
- p.Ile1184Thr Single submitter Inborn genetic diseases ⚠
- p.Ile1269Thr Single submitter ⚠
- p.Ile146Val Single submitter Inborn genetic diseases ⚠
- p.Ile468Ser Single submitter Inborn genetic diseases ⚠
- p.Ile940Asn Single submitter Inborn genetic diseases
- p.Leu116Pro Single submitter ⚠
- p.Leu1212Ser Single submitter ⚠
- p.Leu1301Val Single submitter Inborn genetic diseases ⚠
- p.Leu1376Phe Single submitter ⚠
- p.Leu253Met Single submitter Inborn genetic diseases ⚠
- p.Leu27Gln Single submitter ⚠
- p.Leu376Pro Single submitter ⚠
- p.Leu438Val Single submitter Inborn genetic diseases ⚠
- p.Leu592Met Single submitter Inborn genetic diseases ⚠
- p.Leu670fs Single submitter
- p.Leu718Arg Single submitter Inborn genetic diseases ⚠
- p.Leu992fs Single submitter
- p.Lys1172Gln Single submitter ⚠
- p.Lys1357Glu Single submitter Inborn genetic diseases ⚠
- p.Lys257Arg Single submitter ⚠
- p.Lys364Arg Single submitter ⚠
- p.Lys979Asn Single submitter
- p.Met1276Val Single submitter Inborn genetic diseases ⚠
- p.Met1374Val Single submitter ⚠
- p.Met195Lys Single submitter ⚠
- p.Met72Val Single submitter ⚠
- p.Met896Thr Single submitter Inborn genetic diseases ⚠
- p.Phe265Ser Single submitter ⚠
- p.Phe603Leu Single submitter ⚠
- p.Pro1197Arg Single submitter ⚠
- p.Pro1255Arg Single submitter ⚠
- p.Pro1255Ser Single submitter ⚠
- p.Pro1264Leu Single submitter ⚠
- p.Pro293Ala Single submitter Inborn genetic diseases
- p.Pro334Ser Single submitter Inborn genetic diseases ⚠
- p.Pro531Leu Single submitter Inborn genetic diseases ⚠
- p.Pro539Leu Single submitter Inborn genetic diseases ⚠
- p.Pro540Ser Single submitter Inborn genetic diseases ⚠
- p.Pro618Arg Single submitter ⚠
- p.Pro794Ser Single submitter ⚠
- p.Pro805Ser Single submitter Inborn genetic diseases ⚠
- p.Pro805Thr Single submitter Inborn genetic diseases ⚠
- p.Pro910Ser Single submitter Inborn genetic diseases
- p.Pro94Leu Single submitter ⚠
- p.Pro967Leu Single submitter Inborn genetic diseases
- p.Pro973Ala Single submitter Inborn genetic diseases
- p.Ser1000Pro Single submitter Inborn genetic diseases ⚠
- p.Ser1090Cys Single submitter ⚠
- p.Ser1188Arg Single submitter Inborn genetic diseases
- p.Ser1261Gly Single submitter Inborn genetic diseases ⚠
- p.Ser5Tyr Single submitter ⚠
- p.Ser726Arg Single submitter ⚠
- p.Ser759Leu Single submitter ⚠
- p.Ser762Arg Single submitter ⚠
- p.Ser886Arg Single submitter Inborn genetic diseases ⚠
- p.Ser921Asn Single submitter Inborn genetic diseases
- p.Ser929Asn Single submitter Inborn genetic diseases
- p.Ser93Arg Single submitter Inborn genetic diseases ⚠
- p.Ser953Phe Single submitter Inborn genetic diseases
- p.Ser954del Single submitter
- p.Ser972Phe Single submitter Inborn genetic diseases
- p.Ser990Asn Single submitter Inborn genetic diseases ⚠
- p.Thr1002Ile Single submitter ⚠
- p.Thr1054Ser Single submitter MAP4K4-related autism spectrum disorder ⚠
- p.Thr1088Ala Single submitter Inborn genetic diseases ⚠
- p.Thr1161Ala Single submitter ⚠
- p.Thr124Ile Single submitter Inborn genetic diseases ⚠
- p.Thr1333Ile Single submitter Inborn genetic diseases ⚠
- p.Thr162Ser Single submitter Inborn genetic diseases ⚠
- p.Thr187Met Single submitter Inborn genetic diseases ⚠
- p.Thr191Pro Single submitter ⚠
- p.Thr351Ala Single submitter Inborn genetic diseases ⚠
- p.Thr47Met Single submitter Inborn genetic diseases ⚠
- p.Thr985Pro Single submitter Inborn genetic diseases ⚠
- p.Tyr36fs Single submitter
- p.Val1162Ile Single submitter Inborn genetic diseases ⚠
- p.Val11Met Single submitter Inborn genetic diseases ⚠
- p.Val55Ile Single submitter ⚠
- p.Val893Leu Single submitter Inborn genetic diseases ⚠
- p.Val902Ala Single submitter Inborn genetic diseases ⚠
- p.Val918Ile Single submitter Inborn genetic diseases ⚠
- c.57+1del No assertion criteria
- p.Leu524fs No assertion criteria