KDR — 209 ClinVar variants
All ClinVar germline KDR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 151 flagged for review →
1 Pathogenic · 2 Likely pathogenic · 3 Conflicting · 19 Benign · 2 Benign/Likely benign · 23 Likely benign · 159 Uncertain significance
Full KDR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 151
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.
-
KDR p.Pro1147Ser
Pathogenic
No assertion criteria
capillary infantile hemangioma
Predictors agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 83
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
KDR p.Ala379Val
Uncertain significance
Multiple submitters
capillary infantile hemangioma
-
KDR p.Ala757Gly
Uncertain significance
Multiple submitters
capillary infantile hemangioma
-
KDR p.Val416Ala
Uncertain significance
Multiple submitters
capillary infantile hemangioma
- KDR p.Ala1166Thr Uncertain significance Single submitter
- KDR p.Ala1340Pro Uncertain significance Single submitter
- KDR p.Ala473Asp Uncertain significance Single submitter
- KDR p.Ala792Thr Uncertain significance Single submitter
- KDR p.Ala954Val Uncertain significance Single submitter
- KDR p.Arg1229Gln Uncertain significance Single submitter
- KDR p.Arg1291Met Uncertain significance Single submitter
- KDR p.Arg18Trp Uncertain significance Single submitter
- KDR p.Arg541Trp Uncertain significance Single submitter
- KDR p.Arg725His Uncertain significance Single submitter
- KDR p.Asn1167Ser Uncertain significance Single submitter
- KDR p.Asn468Ile Uncertain significance Single submitter
- KDR p.Asn631Lys Uncertain significance Single submitter
- KDR p.Asp1064Asn Uncertain significance Single submitter
- KDR p.Asp392Glu Uncertain significance Single submitter
- KDR p.Asp558Glu Uncertain significance Single submitter
- KDR p.Asp607His Uncertain significance Single submitter
- KDR p.Asp809Glu Uncertain significance Single submitter
- KDR p.Gln1225Lys Uncertain significance Single submitter
- KDR p.Gln280Arg Uncertain significance Single submitter
- KDR p.Glu1248Lys Uncertain significance Single submitter
- KDR p.Glu1273Gln Uncertain significance Single submitter
- KDR p.Glu16Asp Uncertain significance Single submitter
- KDR p.Glu498Val Uncertain significance Single submitter
- KDR p.Glu531Val Uncertain significance Single submitter
- KDR p.Glu682Lys Uncertain significance Single submitter
- KDR p.Glu78Gly Uncertain significance Single submitter
- KDR p.Gly1337Asp Uncertain significance Single submitter
- KDR p.Gly196Ala Uncertain significance Single submitter
-
KDR p.Gly539Glu
Uncertain significance
Single submitter
capillary infantile hemangioma
-
KDR p.Gly794Glu
Uncertain significance
Single submitter
capillary infantile hemangioma
- KDR p.Gly795Arg Uncertain significance Single submitter
- KDR p.Gly903Arg Uncertain significance Single submitter
- KDR p.Gly99Arg Uncertain significance Single submitter
- KDR p.His454Gln Uncertain significance Single submitter
- KDR p.His876Arg Uncertain significance Single submitter
- KDR p.His879Leu Uncertain significance Single submitter
- KDR p.Ile138Leu Uncertain significance Single submitter
- KDR p.Ile497Thr Uncertain significance Single submitter
- KDR p.Ile753Lys Uncertain significance Single submitter
- KDR p.Ile767Thr Uncertain significance Single submitter
- KDR p.Leu569Phe Uncertain significance Single submitter
- KDR p.Leu963Met Uncertain significance Single submitter
- KDR p.Leu995Met Uncertain significance Single submitter
- KDR p.Lys1270Gln Uncertain significance Single submitter
- KDR p.Lys183Arg Uncertain significance Single submitter
- KDR p.Met1016Ile Uncertain significance Single submitter
- KDR p.Met1139Ile Uncertain significance Single submitter
- KDR p.Met197Val Uncertain significance Single submitter
- KDR p.Met213Ile Uncertain significance Single submitter
- KDR p.Met559Val Uncertain significance Single submitter
- KDR p.Phe321Ile Uncertain significance Single submitter
- KDR p.Pro1105Leu Uncertain significance Single submitter
- KDR p.Ser1009Asn Uncertain significance Single submitter
- KDR p.Ser1181Pro Uncertain significance Single submitter
- KDR p.Ser1266Leu Uncertain significance Single submitter
- KDR p.Ser410Arg Uncertain significance Single submitter
- KDR p.Ser434Ala Uncertain significance Single submitter
- KDR p.Thr1138Ile Uncertain significance Single submitter
- KDR p.Thr1276Pro Uncertain significance Single submitter
- KDR p.Thr1276Ser Uncertain significance Single submitter
- KDR p.Thr1316Asn Uncertain significance Single submitter
- KDR p.Thr440Ile Uncertain significance Single submitter
- KDR p.Thr660Ala Uncertain significance Single submitter
- KDR p.Tyr480His Uncertain significance Single submitter
- KDR p.Tyr822Cys Uncertain significance Single submitter
- KDR p.Val1251Leu Uncertain significance Single submitter
- KDR p.Val1286Leu Uncertain significance Single submitter
- KDR p.Val159Met Uncertain significance Single submitter
- KDR p.Val524Ala Uncertain significance Single submitter
- KDR p.Val547Met Uncertain significance Single submitter
- KDR p.Val686Leu Uncertain significance Single submitter
- KDR p.Val708Ile Uncertain significance Single submitter
- KDR p.Val748Gly Uncertain significance Single submitter
- KDR p.Gln1149Glu Uncertain significance No assertion criteria
-
KDR p.Gly1092Arg
Uncertain significance
No assertion criteria
KDR-related disorder
-
KDR p.Gly794Arg
Uncertain significance
No assertion criteria
colon carcinoma
-
KDR p.Leu886Ile
Uncertain significance
No assertion criteria
colon carcinoma
-
KDR p.Leu902Gln
Uncertain significance
No assertion criteria
colon carcinoma
-
KDR p.Lys907Asn
Uncertain significance
No assertion criteria
colon carcinoma
Predictors split 65
The independent predictors disagree with each other — read with care.
-
KDR p.Arg842His
Likely benign
Multiple submitters
hepatoblastoma
-
KDR p.Glu372Asp
Benign
Multiple submitters
capillary infantile hemangioma
-
KDR p.Ala1065Thr
Uncertain significance
Single submitter
capillary infantile hemangioma
- KDR p.Ala19Asp Uncertain significance Single submitter
- KDR p.Ala644Thr Uncertain significance Single submitter
- KDR p.Ala824Gly Uncertain significance Single submitter
- KDR p.Arg728Gly Uncertain significance Single submitter
-
KDR p.Asn318Ile
Uncertain significance
Single submitter
capillary infantile hemangioma
- KDR p.Asn511Asp Uncertain significance Single submitter
-
KDR p.Asn523His
Uncertain significance
Single submitter
capillary infantile hemangioma
- KDR p.Asn631Ile Uncertain significance Single submitter
- KDR p.Asn693Thr Uncertain significance Single submitter
- KDR p.Asp832His Uncertain significance Single submitter
- KDR p.Asp958Val Uncertain significance Single submitter
- KDR p.Cys817Phe Uncertain significance Single submitter
- KDR p.Glu1248Ala Uncertain significance Single submitter
- KDR p.Glu565Lys Uncertain significance Single submitter
- KDR p.Glu674Asp Likely benign Single submitter
- KDR p.Glu815Ala Uncertain significance Single submitter
- KDR p.Glu850Ala Uncertain significance Single submitter
- KDR p.Gly1304Ser Uncertain significance Single submitter
- KDR p.Gly239Glu Uncertain significance Single submitter
- KDR p.Gly380Val Uncertain significance Single submitter
- KDR p.Gly550Cys Uncertain significance Single submitter
- KDR p.His1159Tyr Uncertain significance Single submitter
- KDR p.His546Pro Uncertain significance Single submitter
- KDR p.Ile507Asn Uncertain significance Single submitter
- KDR p.Ile753Met Uncertain significance Single submitter
- KDR p.Ile915Val Likely benign Single submitter
-
KDR p.Leu1002Phe
Uncertain significance
Single submitter
capillary infantile hemangioma
- KDR p.Leu1264Phe Uncertain significance Single submitter
-
KDR p.Leu242Phe
Likely pathogenic
Single submitter
primary ovarian failure
- KDR p.Leu49Val Uncertain significance Single submitter
- KDR p.Lys102Glu Uncertain significance Single submitter
- KDR p.Lys406Glu Uncertain significance Single submitter
- KDR p.Lys86Glu Uncertain significance Single submitter
- KDR p.Phe170Cys Uncertain significance Single submitter
- KDR p.Phe170Leu Uncertain significance Single submitter
-
KDR p.Pro420Leu
Uncertain significance
Single submitter
capillary infantile hemangioma
- KDR p.Pro453Leu Uncertain significance Single submitter
- KDR p.Pro453Ser Uncertain significance Single submitter
- KDR p.Pro908Ser Uncertain significance Single submitter
- KDR p.Ser1296Pro Uncertain significance Single submitter
- KDR p.Ser281Cys Uncertain significance Single submitter
- KDR p.Ser515Asn Uncertain significance Single submitter
- KDR p.Ser566Asn Uncertain significance Single submitter
- KDR p.Ser633Cys Uncertain significance Single submitter
- KDR p.Ser803Thr Uncertain significance Single submitter
- KDR p.Thr1138Ser Uncertain significance Single submitter
- KDR p.Thr384Met Conflicting Single submitter
- KDR p.Thr48Ala Uncertain significance Single submitter
- KDR p.Thr582Arg Uncertain significance Single submitter
- KDR p.Thr677Met Uncertain significance Single submitter
- KDR p.Thr87Ala Uncertain significance Single submitter
- KDR p.Tyr117Cys Uncertain significance Single submitter
- KDR p.Tyr1223Cys Uncertain significance Single submitter
- KDR p.Tyr214Cys Uncertain significance Single submitter
- KDR p.Tyr418Phe Uncertain significance Single submitter
- KDR p.Val147Ala Uncertain significance Single submitter
- KDR p.Val76Glu Uncertain significance Single submitter
- KDR p.Arg57Thr Uncertain significance No assertion criteria
-
KDR p.Arg787Gln
Uncertain significance
No assertion criteria
prostate cancer
-
KDR p.Leu1163Phe
Uncertain significance
No assertion criteria
colon carcinoma
-
KDR p.Thr1258Met
Uncertain significance
No assertion criteria
teratoma
-
KDR p.Val297Ile
Benign
No assertion criteria
KDR-related disorder
All KDR variants
Pathogenic 1
- p.Pro1147Ser No assertion criteria capillary infantile hemangioma ⚠
Likely pathogenic 2
- c.2614+1G>A Single submitter tetralogy of fallot
- p.Leu242Phe Single submitter primary ovarian failure ⚠
Conflicting classifications of pathogenicity 3
- p.Gly671Glu Single submitter ⚠
- p.Pro590Ser Single submitter ⚠
- p.Thr384Met Single submitter ⚠
Benign 19
- p.Ala1030= Multiple submitters
- p.Ala532= Multiple submitters
- p.Glu372Asp Multiple submitters capillary infantile hemangioma ⚠
- p.Leu612= Multiple submitters
- p.Ser68= Multiple submitters
- p.Val136Met Multiple submitters
- c.1092-6T>C Single submitter
- c.1256-10C>T Single submitter
- c.3848+15T>C Single submitter capillary infantile hemangioma
- p.Ala352Val Single submitter
- p.His546= Single submitter
- p.Ile1044= Single submitter
- p.Ser525= Single submitter
- p.Thr279= Single submitter
- p.Thr343= Single submitter
- c.-1G>T No assertion criteria KDR-related disorder
- p.Gln472His No assertion criteria KDR-related disorder
- p.Ile1330Leu No assertion criteria KDR-related disorder
- p.Val297Ile No assertion criteria KDR-related disorder ⚠
Benign/Likely benign 2
- p.Leu462Val Multiple submitters
- p.Thr689Met Multiple submitters Hirschsprung disease, susceptibility to, 1
Likely benign 23
- p.Arg842His Multiple submitters hepatoblastoma ⚠
- p.Cys482Arg Multiple submitters capillary infantile hemangioma
- p.Gly539Arg Multiple submitters
- p.Thr771Met Multiple submitters capillary infantile hemangioma
- p.Ala379= Single submitter
- p.Asp852= Single submitter
- p.Glu346Asp Single submitter
- p.Glu531= Single submitter
- p.Glu674Asp Single submitter ⚠
- p.Ile915Val Single submitter ⚠
- p.Leu786= Single submitter
- p.Ser1296= Single submitter
- p.Thr442= Single submitter
- p.Tyr480= Single submitter
- p.Tyr735= Single submitter
- p.Val22= Single submitter
- c.1537-6G>A No assertion criteria KDR-related disorder
- c.3510+10C>T No assertion criteria KDR-related disorder
- p.Gly1283= No assertion criteria KDR-related disorder
- p.Lys941= No assertion criteria KDR-related disorder
- p.Pro956= No assertion criteria KDR-related disorder
- p.Ser1311= No assertion criteria KDR-related disorder
- p.Thr1152= No assertion criteria KDR-related disorder
Uncertain significance 159
- p.Ala379Val Multiple submitters capillary infantile hemangioma ⚠
- p.Ala757Gly Multiple submitters capillary infantile hemangioma ⚠
- p.Val416Ala Multiple submitters capillary infantile hemangioma ⚠
- c.1646-2A>C Single submitter
- c.1646-2A>T Single submitter
- c.2266+1G>T Single submitter
- c.2971+3A>G Single submitter
- p.Ala1065Thr Single submitter capillary infantile hemangioma ⚠
- p.Ala1166Thr Single submitter ⚠
- p.Ala1340Pro Single submitter ⚠
- p.Ala19Asp Single submitter ⚠
- p.Ala473Asp Single submitter ⚠
- p.Ala644Thr Single submitter ⚠
- p.Ala792Thr Single submitter ⚠
- p.Ala824Gly Single submitter ⚠
- p.Ala954Val Single submitter ⚠
- p.Arg1022Ter Single submitter
- p.Arg1229Gln Single submitter ⚠
- p.Arg1291Met Single submitter ⚠
- p.Arg18Trp Single submitter ⚠
- p.Arg541Trp Single submitter ⚠
- p.Arg725His Single submitter ⚠
- p.Arg728Gly Single submitter ⚠
- p.Asn1167Ser Single submitter ⚠
- p.Asn318Ile Single submitter capillary infantile hemangioma ⚠
- p.Asn468Ile Single submitter ⚠
- p.Asn511Asp Single submitter ⚠
- p.Asn523His Single submitter capillary infantile hemangioma ⚠
- p.Asn631Ile Single submitter ⚠
- p.Asn631Lys Single submitter ⚠
- p.Asn693Thr Single submitter ⚠
- p.Asp1064Asn Single submitter ⚠
- p.Asp392Glu Single submitter ⚠
- p.Asp558Glu Single submitter ⚠
- p.Asp607His Single submitter ⚠
- p.Asp809Glu Single submitter ⚠
- p.Asp832His Single submitter ⚠
- p.Asp958Val Single submitter ⚠
- p.Cys817Phe Single submitter ⚠
- p.Gln1225Lys Single submitter ⚠
- p.Gln280Arg Single submitter ⚠
- p.Glu1248Ala Single submitter ⚠
- p.Glu1248fs Single submitter
- p.Glu1248Lys Single submitter ⚠
- p.Glu1273Gln Single submitter ⚠
- p.Glu16Asp Single submitter ⚠
- p.Glu240Ter Single submitter
- p.Glu498Val Single submitter ⚠
- p.Glu531Val Single submitter ⚠
- p.Glu565Lys Single submitter ⚠
- p.Glu682Lys Single submitter ⚠
- p.Glu78Gly Single submitter ⚠
- p.Glu815Ala Single submitter ⚠
- p.Glu850Ala Single submitter ⚠
- p.Gly1304Ser Single submitter ⚠
- p.Gly1337Asp Single submitter ⚠
- p.Gly196Ala Single submitter ⚠
- p.Gly239Glu Single submitter ⚠
- p.Gly380Val Single submitter ⚠
- p.Gly539Glu Single submitter capillary infantile hemangioma ⚠
- p.Gly550Cys Single submitter ⚠
- p.Gly794Glu Single submitter capillary infantile hemangioma ⚠
- p.Gly795Arg Single submitter ⚠
- p.Gly903Arg Single submitter ⚠
- p.Gly99Arg Single submitter ⚠
- p.His1159Tyr Single submitter ⚠
- p.His454Gln Single submitter ⚠
- p.His546Pro Single submitter ⚠
- p.His876Arg Single submitter ⚠
- p.His879Leu Single submitter ⚠
- p.Ile138Leu Single submitter ⚠
- p.Ile497Thr Single submitter ⚠
- p.Ile507Asn Single submitter ⚠
- p.Ile753Lys Single submitter ⚠
- p.Ile753Met Single submitter ⚠
- p.Ile767Thr Single submitter ⚠
- p.Leu1002Phe Single submitter capillary infantile hemangioma ⚠
- p.Leu1264Phe Single submitter ⚠
- p.Leu49Val Single submitter ⚠
- p.Leu569Phe Single submitter ⚠
- p.Leu963Met Single submitter ⚠
- p.Leu995Met Single submitter ⚠
- p.Lys102Glu Single submitter ⚠
- p.Lys1270Gln Single submitter ⚠
- p.Lys183Arg Single submitter ⚠
- p.Lys406Glu Single submitter ⚠
- p.Lys86Glu Single submitter ⚠
- p.Met1016Ile Single submitter ⚠
- p.Met1139Ile Single submitter ⚠
- p.Met197Val Single submitter ⚠
- p.Met213Ile Single submitter ⚠
- p.Met559Val Single submitter ⚠
- p.Phe170Cys Single submitter ⚠
- p.Phe170Leu Single submitter ⚠
- p.Phe321Ile Single submitter ⚠
- p.Pro1105Leu Single submitter ⚠
- p.Pro420Leu Single submitter capillary infantile hemangioma ⚠
- p.Pro453Leu Single submitter ⚠
- p.Pro453Ser Single submitter ⚠
- p.Pro908Ser Single submitter ⚠
- p.Ser1009Asn Single submitter ⚠
- p.Ser1181Pro Single submitter ⚠
- p.Ser1221= Single submitter capillary infantile hemangioma
- p.Ser1266Leu Single submitter ⚠
- p.Ser1296Pro Single submitter ⚠
- p.Ser281Cys Single submitter ⚠
- p.Ser410Arg Single submitter ⚠
- p.Ser434Ala Single submitter ⚠
- p.Ser515Asn Single submitter ⚠
- p.Ser566Asn Single submitter ⚠
- p.Ser633Cys Single submitter ⚠
- p.Ser803Thr Single submitter ⚠
- p.Thr1138Ile Single submitter ⚠
- p.Thr1138Ser Single submitter ⚠
- p.Thr1276Pro Single submitter ⚠
- p.Thr1276Ser Single submitter ⚠
- p.Thr1316Asn Single submitter ⚠
- p.Thr440Ile Single submitter ⚠
- p.Thr48Ala Single submitter ⚠
- p.Thr582Arg Single submitter ⚠
- p.Thr660Ala Single submitter ⚠
- p.Thr677Met Single submitter ⚠
- p.Thr87Ala Single submitter ⚠
- p.Tyr117Cys Single submitter ⚠
- p.Tyr1223Cys Single submitter ⚠
- p.Tyr214Cys Single submitter ⚠
- p.Tyr418Phe Single submitter ⚠
- p.Tyr435Ter Single submitter
- p.Tyr480His Single submitter ⚠
- p.Tyr822Cys Single submitter ⚠
- p.Val1251Leu Single submitter ⚠
- p.Val1286Leu Single submitter ⚠
- p.Val147Ala Single submitter ⚠
- p.Val159Met Single submitter ⚠
- p.Val524Ala Single submitter ⚠
- p.Val547Met Single submitter ⚠
- p.Val686Leu Single submitter ⚠
- p.Val708Ile Single submitter ⚠
- p.Val748Gly Single submitter ⚠
- p.Val76Glu Single submitter ⚠
- c.2509+20T>A No assertion criteria colon carcinoma
- c.2510-27del No assertion criteria colon carcinoma
- c.2615-23C>T No assertion criteria colon carcinoma
- c.3405-4C>T No assertion criteria colon carcinoma
- p.Ala866= No assertion criteria colon carcinoma
- p.Arg57Thr No assertion criteria ⚠
- p.Arg787Gln No assertion criteria prostate cancer ⚠
- p.Gln1149Glu No assertion criteria ⚠
- p.Glu1155= No assertion criteria colon carcinoma
- p.Gly1092Arg No assertion criteria KDR-related disorder ⚠
- p.Gly794Arg No assertion criteria colon carcinoma ⚠
- p.Ile892= No assertion criteria colon carcinoma
- p.Leu1163Phe No assertion criteria colon carcinoma ⚠
- p.Leu886Ile No assertion criteria colon carcinoma ⚠
- p.Leu902Gln No assertion criteria colon carcinoma ⚠
- p.Lys907Asn No assertion criteria colon carcinoma ⚠
- p.Pro1147= No assertion criteria colon carcinoma
- p.Thr1258Met No assertion criteria teratoma ⚠
- p.Val848= No assertion criteria colon carcinoma