EGF — 638 ClinVar variants
All ClinVar germline EGF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 261 flagged for review →
1 Pathogenic · 2 Likely pathogenic · 22 Conflicting · 116 Benign · 17 Benign/Likely benign · 153 Likely benign · 327 Uncertain significance
Full EGF gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 261
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.
-
EGF p.Pro1070Leu
Pathogenic
No assertion criteria
renal hypomagnesemia 4
Predictors agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
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.
-
EGF p.Ala1025Ser
Uncertain significance
Multiple submitters
renal hypomagnesemia 4
-
EGF p.Ala1037Val
Uncertain significance
Multiple submitters
renal hypomagnesemia 4
- EGF p.Ala45Val Uncertain significance Multiple submitters
- EGF p.Ala862Thr Uncertain significance Multiple submitters
-
EGF p.Arg221Thr
Uncertain significance
Multiple submitters
renal hypomagnesemia 4
-
EGF p.Arg351Gln
Uncertain significance
Multiple submitters
renal hypomagnesemia 4
- EGF p.Asn1002Asp Uncertain significance Multiple submitters
- EGF p.Asp309Gly Uncertain significance Multiple submitters
-
EGF p.Asp640Gly
Uncertain significance
Multiple submitters
renal hypomagnesemia 4
- EGF p.Asp981Glu Uncertain significance Multiple submitters
- EGF p.Glu551Asp Uncertain significance Multiple submitters
-
EGF p.Glu793Val
Uncertain significance
Multiple submitters
renal hypomagnesemia 4
- EGF p.His495Arg Uncertain significance Multiple submitters
- EGF p.Ile597Met Uncertain significance Multiple submitters
- EGF p.Leu631Phe Uncertain significance Multiple submitters
- EGF p.Met1161Val Uncertain significance Multiple submitters
- EGF p.Met991Ile Uncertain significance Multiple submitters
-
EGF p.Ser16Thr
Uncertain significance
Multiple submitters
renal hypomagnesemia 4
- EGF p.Thr680Ile Uncertain significance Multiple submitters
- EGF p.Tyr379Phe Uncertain significance Multiple submitters
-
EGF p.Val452Ile
Uncertain significance
Multiple submitters
renal hypomagnesemia 4
- EGF p.Val811Ala Uncertain significance Multiple submitters
- EGF p.Val896Ala Uncertain significance Multiple submitters
- EGF p.Ala1025Thr Uncertain significance Single submitter
- EGF p.Ala1115Ser Uncertain significance Single submitter
- EGF p.Ala1121Ser Uncertain significance Single submitter
- EGF p.Ala34Thr Uncertain significance Single submitter
- EGF p.Ala691Thr Uncertain significance Single submitter
- EGF p.Arg1015Gln Uncertain significance Single submitter
- EGF p.Arg1015Leu Uncertain significance Single submitter
- EGF p.Arg1023His Uncertain significance Single submitter
- EGF p.Arg1081Cys Uncertain significance Single submitter
- EGF p.Arg1081His Uncertain significance Single submitter
- EGF p.Arg258His Uncertain significance Single submitter
- EGF p.Arg394Gln Uncertain significance Single submitter
- EGF p.Arg394Gly Uncertain significance Single submitter
- EGF p.Arg403His Uncertain significance Single submitter
- EGF p.Arg581Lys Uncertain significance Single submitter
- EGF p.Arg588His Uncertain significance Single submitter
- EGF p.Arg845Gln Uncertain significance Single submitter
- EGF p.Arg845Leu Uncertain significance Single submitter
- EGF p.Arg898Gln Uncertain significance Single submitter
- EGF p.Asn1109Lys Uncertain significance Single submitter
- EGF p.Asn148Ser Uncertain significance Single submitter
- EGF p.Asn220Ser Uncertain significance Single submitter
-
EGF p.Asn248Asp
Uncertain significance
Single submitter
renal hypomagnesemia 4
- EGF p.Asn620His Uncertain significance Single submitter
- EGF p.Asp1153Gly Uncertain significance Single submitter
-
EGF p.Asp279Asn
Uncertain significance
Single submitter
renal hypomagnesemia 4
- EGF p.Asp309Glu Uncertain significance Single submitter
- EGF p.Asp411His Uncertain significance Single submitter
- EGF p.Asp443Asn Uncertain significance Single submitter
- EGF p.Asp695Ala Uncertain significance Single submitter
- EGF p.Asp872Asn Uncertain significance Single submitter
- EGF p.Cys371Ser Uncertain significance Single submitter
- EGF p.Cys380Phe Uncertain significance Single submitter
- EGF p.Cys846Ser Uncertain significance Single submitter
- EGF p.Cys923Phe Uncertain significance Single submitter
- EGF p.Gln1105Glu Uncertain significance Single submitter
- EGF p.Gln1112Pro Uncertain significance Single submitter
- EGF p.Gln1159Lys Uncertain significance Single submitter
- EGF p.Gln1173Glu Uncertain significance Single submitter
- EGF p.Gln1173His Uncertain significance Single submitter
- EGF p.Gln24Leu Uncertain significance Single submitter
- EGF p.Gln491Arg Uncertain significance Single submitter
- EGF p.Glu1176Asp Uncertain significance Single submitter
- EGF p.Glu169Lys Uncertain significance Single submitter
- EGF p.Glu62Asp Uncertain significance Single submitter
- EGF p.Glu826Lys Uncertain significance Single submitter
- EGF p.Glu892Asp Uncertain significance Single submitter
- EGF p.Gly1009Arg Uncertain significance Single submitter
- EGF p.Gly1028Ala Uncertain significance Single submitter
- EGF p.Gly1124Val Uncertain significance Single submitter
- EGF p.Gly277Val Uncertain significance Single submitter
- EGF p.Gly370Val Uncertain significance Single submitter
- EGF p.Gly673Asp Uncertain significance Single submitter
- EGF p.Gly723Arg Uncertain significance Single submitter
- EGF p.Gly839Glu Uncertain significance Single submitter
- EGF p.Gly877Ser Uncertain significance Single submitter
- EGF p.His275Arg Uncertain significance Single submitter
- EGF p.His966Gln Uncertain significance Single submitter
- EGF p.Ile1008Thr Uncertain significance Single submitter
- EGF p.Ile114Thr Uncertain significance Single submitter
- EGF p.Ile526Val Uncertain significance Single submitter
- EGF p.Ile623Asn Uncertain significance Single submitter
- EGF p.Ile623Phe Uncertain significance Single submitter
- EGF p.Ile755Val Uncertain significance Single submitter
- EGF p.Ile805Val Uncertain significance Single submitter
- EGF p.Ile908Thr Uncertain significance Single submitter
- EGF p.Leu1185Val Uncertain significance Single submitter
- EGF p.Leu1205Val Uncertain significance Single submitter
- EGF p.Leu285Phe Uncertain significance Single submitter
- EGF p.Leu338Phe Uncertain significance Single submitter
- EGF p.Leu369Pro Uncertain significance Single submitter
-
EGF p.Leu420Val
Uncertain significance
Single submitter
renal hypomagnesemia 4
- EGF p.Leu454Val Uncertain significance Single submitter
- EGF p.Leu783Val Uncertain significance Single submitter
- EGF p.Lys1032Gln Uncertain significance Single submitter
- EGF p.Lys14Thr Uncertain significance Single submitter
- EGF p.Lys434Arg Uncertain significance Single submitter
- EGF p.Lys594Gln Uncertain significance Single submitter
- EGF p.Lys797Arg Uncertain significance Single submitter
- EGF p.Lys808Asn Uncertain significance Single submitter
- EGF p.Met1167Thr Uncertain significance Single submitter
- EGF p.Met266Thr Uncertain significance Single submitter
- EGF p.Met280Leu Uncertain significance Single submitter
- EGF p.Met280Val Uncertain significance Single submitter
- EGF p.Met496Thr Uncertain significance Single submitter
- EGF p.Met513Val Uncertain significance Single submitter
- EGF p.Met772Arg Uncertain significance Single submitter
- EGF p.Met772Val Uncertain significance Single submitter
- EGF p.Met939Val Uncertain significance Single submitter
-
EGF p.Pro1096Ser
Uncertain significance
Single submitter
renal hypomagnesemia 4
- EGF p.Pro1128Gln Uncertain significance Single submitter
- EGF p.Pro1135Ser Uncertain significance Single submitter
- EGF p.Pro23Leu Uncertain significance Single submitter
-
EGF p.Pro244Gln
Uncertain significance
Single submitter
renal hypomagnesemia 4
- EGF p.Pro244Ser Uncertain significance Single submitter
- EGF p.Pro390Ser Uncertain significance Single submitter
- EGF p.Pro483Gln Uncertain significance Single submitter
- EGF p.Pro883Ala Uncertain significance Single submitter
- EGF p.Pro956Ala Uncertain significance Single submitter
- EGF p.Pro957Leu Uncertain significance Single submitter
- EGF p.Pro957Ser Uncertain significance Single submitter
- EGF p.Ser1184Pro Uncertain significance Single submitter
- EGF p.Ser155Arg Uncertain significance Single submitter
- EGF p.Ser21Leu Uncertain significance Single submitter
- EGF p.Ser241Gly Uncertain significance Single submitter
- EGF p.Ser27Thr Uncertain significance Single submitter
- EGF p.Ser55Gly Uncertain significance Single submitter
- EGF p.Ser869Phe Uncertain significance Single submitter
- EGF p.Ser954Thr Uncertain significance Single submitter
-
EGF p.Thr268Lys
Uncertain significance
Single submitter
renal hypomagnesemia 4
- EGF p.Thr4Ile Uncertain significance Single submitter
- EGF p.Trp1052Leu Uncertain significance Single submitter
- EGF p.Tyr219Cys Uncertain significance Single submitter
- EGF p.Tyr219His Uncertain significance Single submitter
- EGF p.Tyr515Ser Uncertain significance Single submitter
- EGF p.Val1005Ala Uncertain significance Single submitter
- EGF p.Val1078Gly Uncertain significance Single submitter
- EGF p.Val1114Ala Uncertain significance Single submitter
- EGF p.Val1150Leu Uncertain significance Single submitter
- EGF p.Val1160Leu Uncertain significance Single submitter
- EGF p.Val281Ala Uncertain significance Single submitter
- EGF p.Val387Ile Uncertain significance Single submitter
- EGF p.Val457Gly Uncertain significance Single submitter
- EGF p.Val554Leu Uncertain significance Single submitter
- EGF p.Val690Ile Uncertain significance Single submitter
- EGF p.Val969Ile Uncertain significance Single submitter
- EGF p.Ala1196Thr Uncertain significance No assertion criteria
Predictors split 107
The independent predictors disagree with each other — read with care.
-
EGF p.Arg213Gln
Uncertain significance
Multiple submitters
renal hypomagnesemia 4
- EGF p.Arg567His Uncertain significance Multiple submitters
-
EGF p.Asp257His
Benign/Likely benign
Multiple submitters
renal hypomagnesemia 4
-
EGF p.Asp472Glu
Uncertain significance
Multiple submitters
renal hypomagnesemia 4
-
EGF p.Gly575Arg
Likely benign
Multiple submitters
renal hypomagnesemia 4
-
EGF p.His151Tyr
Benign
Multiple submitters
renal hypomagnesemia 4
- EGF p.Leu254Pro Uncertain significance Multiple submitters
-
EGF p.Leu292His
Benign/Likely benign
Multiple submitters
renal hypomagnesemia 4
-
EGF p.Lys296Thr
Uncertain significance
Multiple submitters
EGF-related disorder
- EGF p.Pro952Arg Uncertain significance Multiple submitters
-
EGF p.Ser155Asn
Uncertain significance
Multiple submitters
renal hypomagnesemia 4
-
EGF p.Ser16Arg
Benign/Likely benign
Multiple submitters
renal hypomagnesemia 4
-
EGF p.Ser638Arg
Benign/Likely benign
Multiple submitters
renal hypomagnesemia 4
-
EGF p.Ser766Leu
Benign/Likely benign
Multiple submitters
renal hypomagnesemia 4
-
EGF p.Val1040Met
Benign/Likely benign
Multiple submitters
renal hypomagnesemia 4
- EGF p.Val457Ile Uncertain significance Multiple submitters
-
EGF p.Val562Leu
Uncertain significance
Multiple submitters
renal hypomagnesemia 4
- EGF p.Ala161Pro Uncertain significance Single submitter
- EGF p.Ala478Pro Uncertain significance Single submitter
- EGF p.Ala529Ser Uncertain significance Single submitter
- EGF p.Ala995Gly Uncertain significance Single submitter
- EGF p.Arg100Gly Uncertain significance Single submitter
- EGF p.Arg100Ile Uncertain significance Single submitter
- EGF p.Arg258Cys Uncertain significance Single submitter
- EGF p.Arg403Cys Uncertain significance Single submitter
- EGF p.Arg548Ser Uncertain significance Single submitter
- EGF p.Arg588Cys Uncertain significance Single submitter
- EGF p.Arg611Ser Uncertain significance Single submitter
- EGF p.Arg622Gln Uncertain significance Single submitter
- EGF p.Arg633Leu Uncertain significance Single submitter
- EGF p.Arg845Trp Uncertain significance Single submitter
- EGF p.Arg898Trp Uncertain significance Single submitter
- EGF p.Arg943Cys Uncertain significance Single submitter
- EGF p.Asn65Ser Uncertain significance Single submitter
- EGF p.Asn890Asp Uncertain significance Single submitter
- EGF p.Asp1016Glu Likely benign Single submitter
- EGF p.Asp186Glu Uncertain significance Single submitter
- EGF p.Asp186Tyr Uncertain significance Single submitter
- EGF p.Asp462Val Uncertain significance Single submitter
- EGF p.Asp472Asn Uncertain significance Single submitter
- EGF p.Asp660Asn Uncertain significance Single submitter
- EGF p.Asp672Gly Uncertain significance Single submitter
- EGF p.Asp776Gly Uncertain significance Single submitter
- EGF p.Asp864Tyr Uncertain significance Single submitter
- EGF p.Asp912Gly Uncertain significance Single submitter
- EGF p.Cys229Phe Uncertain significance Single submitter
- EGF p.Cys330Tyr Uncertain significance Single submitter
- EGF p.Cys940Tyr Uncertain significance Single submitter
- EGF p.Gln681Arg Uncertain significance Single submitter
- EGF p.Glu1162Lys Uncertain significance Single submitter
-
EGF p.Glu694Asp
Uncertain significance
Single submitter
renal hypomagnesemia 4
- EGF p.Glu892Lys Conflicting Single submitter
- EGF p.Gly1053Glu Uncertain significance Single submitter
-
EGF p.Gly1116Cys
Uncertain significance
Single submitter
renal hypomagnesemia 4
- EGF p.Gly1178Cys Uncertain significance Single submitter
- EGF p.Gly138Glu Uncertain significance Single submitter
- EGF p.Gly147Ala Uncertain significance Single submitter
- EGF p.Gly180Arg Uncertain significance Single submitter
-
EGF p.Gly366Asp
Conflicting
Single submitter
renal hypomagnesemia 4
- EGF p.Gly418Val Uncertain significance Single submitter
-
EGF p.Gly446Arg
Uncertain significance
Single submitter
renal hypomagnesemia 4
- EGF p.Gly618Glu Uncertain significance Single submitter
- EGF p.Gly750Arg Uncertain significance Single submitter
- EGF p.Gly751Ala Uncertain significance Single submitter
- EGF p.Gly865Ala Uncertain significance Single submitter
- EGF p.Gly865Arg Uncertain significance Single submitter
-
EGF p.Gly919Arg
Uncertain significance
Single submitter
renal hypomagnesemia 4
- EGF p.Gly948Val Uncertain significance Single submitter
- EGF p.His299Tyr Uncertain significance Single submitter
- EGF p.His754Arg Uncertain significance Single submitter
- EGF p.Ile114Arg Uncertain significance Single submitter
- EGF p.Ile597Phe Uncertain significance Single submitter
- EGF p.Ile649Thr Uncertain significance Single submitter
- EGF p.Ile871Met Uncertain significance Single submitter
- EGF p.Leu1175Ile Conflicting Single submitter
- EGF p.Leu584Ile Uncertain significance Single submitter
- EGF p.Leu656Met Uncertain significance Single submitter
- EGF p.Met145Thr Uncertain significance Single submitter
- EGF p.Met252Lys Uncertain significance Single submitter
- EGF p.Met252Val Uncertain significance Single submitter
- EGF p.Pro424Ser Uncertain significance Single submitter
- EGF p.Pro456Gln Conflicting Single submitter
- EGF p.Pro557Thr Uncertain significance Single submitter
- EGF p.Pro740Ala Uncertain significance Single submitter
- EGF p.Ser106Pro Uncertain significance Single submitter
- EGF p.Ser181Arg Uncertain significance Single submitter
- EGF p.Ser19Arg Uncertain significance Single submitter
- EGF p.Ser455Thr Uncertain significance Single submitter
- EGF p.Ser626Phe Uncertain significance Single submitter
- EGF p.Ser885Phe Uncertain significance Single submitter
- EGF p.Thr374Ile Uncertain significance Single submitter
- EGF p.Thr415Ile Uncertain significance Single submitter
- EGF p.Thr501Ala Likely benign Single submitter
- EGF p.Thr648Met Uncertain significance Single submitter
- EGF p.Thr779Met Uncertain significance Single submitter
- EGF p.Tyr159Cys Uncertain significance Single submitter
- EGF p.Tyr503Cys Uncertain significance Single submitter
- EGF p.Tyr903Cys Uncertain significance Single submitter
- EGF p.Tyr936His Uncertain significance Single submitter
- EGF p.Tyr992Cys Uncertain significance Single submitter
- EGF p.Val1038Gly Uncertain significance Single submitter
- EGF p.Val118Leu Uncertain significance Single submitter
- EGF p.Val168Ala Uncertain significance Single submitter
- EGF p.Val192Met Uncertain significance Single submitter
- EGF p.Val357Ala Uncertain significance Single submitter
- EGF p.Val605Ile Uncertain significance Single submitter
- EGF p.Val635Phe Uncertain significance Single submitter
All EGF variants
Pathogenic 1
- p.Pro1070Leu No assertion criteria renal hypomagnesemia 4 ⚠
Likely pathogenic 2
- c.1189+1G>A Single submitter
- c.1830-2A>G Single submitter renal hypomagnesemia 4
Conflicting classifications of pathogenicity 22
- c.3006-11T>G Single submitter renal hypomagnesemia 4
- c.3292-7T>C Single submitter renal hypomagnesemia 4
- c.3371-4A>G Single submitter renal hypomagnesemia 4
- p.Ala1054= Single submitter renal hypomagnesemia 4
- p.Asp188Asn Single submitter ⚠
- p.Asp468= Single submitter renal hypomagnesemia 4
- p.Glu892Lys Single submitter ⚠
- p.Glu920= Single submitter renal hypomagnesemia 4
- p.Gly1177Ala Single submitter renal hypomagnesemia 4 ⚠
- p.Gly366Asp Single submitter renal hypomagnesemia 4 ⚠
- p.His497= Single submitter renal hypomagnesemia 4
- p.His606= Single submitter renal hypomagnesemia 4
- p.His980= Single submitter renal hypomagnesemia 4
- p.Leu1175Ile Single submitter ⚠
- p.Lys534= Single submitter renal hypomagnesemia 4
- p.Met1045Leu Single submitter ⚠
- p.Pro456Gln Single submitter ⚠
- p.Pro607= Single submitter renal hypomagnesemia 4
- p.Ser19= Single submitter renal hypomagnesemia 4
- p.Thr617= Single submitter renal hypomagnesemia 4
- p.Thr779= Single submitter renal hypomagnesemia 4
- p.Tyr379= Single submitter renal hypomagnesemia 4
Benign 116
- c.1066+10G>C Multiple submitters renal hypomagnesemia 4
- c.1066+40C>T Multiple submitters
- c.1067-82C>T Multiple submitters
- c.1190-23T>C Multiple submitters
- c.1190-39G>T Multiple submitters
- c.128-175G>A Multiple submitters
- c.128-79G>A Multiple submitters
- c.1313-33C>T Multiple submitters
- c.1575+50A>G Multiple submitters
- c.1576-111C>T Multiple submitters
- c.1576-218T>C Multiple submitters
- c.1576-38T>A Multiple submitters
- c.1725-12C>A Multiple submitters renal hypomagnesemia 4
- c.1829+87A>C Multiple submitters
- c.2222-125A>G Multiple submitters
- c.2371+35G>A Multiple submitters
- c.2372-76G>A Multiple submitters
- c.2372-88C>T Multiple submitters
- c.2491+20C>A Multiple submitters renal hypomagnesemia 4
- c.2492-19G>A Multiple submitters
- c.2492-20G>A Multiple submitters
- c.2608+32A>T Multiple submitters
- c.2608+73C>T Multiple submitters
- c.2609-5C>A Multiple submitters renal hypomagnesemia 4
- c.2857+226A>G Multiple submitters
- c.3174-169C>A Multiple submitters
- c.3174-192C>T Multiple submitters
- c.3174-202G>A Multiple submitters
- c.3174-290T>C Multiple submitters
- c.327+62C>T Multiple submitters
- c.3370+152G>A Multiple submitters
- c.510-140G>A Multiple submitters
- c.737+46T>G Multiple submitters
- c.738-51A>C Multiple submitters
- c.940+11G>A Multiple submitters renal hypomagnesemia 4
- c.940+151A>T Multiple submitters
- c.940+22G>A Multiple submitters
- c.940+77C>T Multiple submitters
- c.940+95A>T Multiple submitters
- c.941-104T>C Multiple submitters
- c.-382A>G Multiple submitters renal hypomagnesemia 4
- c.*393T>C Multiple submitters renal hypomagnesemia 4
- c.*483C>T Multiple submitters renal hypomagnesemia 4
- p.Ala691= Multiple submitters renal hypomagnesemia 4
- p.Arg431Lys Multiple submitters renal hypomagnesemia 4
- p.Asp186His Multiple submitters renal hypomagnesemia 4
- p.Cys659= Multiple submitters renal hypomagnesemia 4
- p.Gln1136fs Multiple submitters
- p.His151Tyr Multiple submitters renal hypomagnesemia 4 ⚠
- p.His365= Multiple submitters renal hypomagnesemia 4
- p.Ile597Val Multiple submitters renal hypomagnesemia 4
- p.Ile88= Multiple submitters renal hypomagnesemia 4
- p.Met708Ile Multiple submitters renal hypomagnesemia 4
- p.Met842Thr Multiple submitters renal hypomagnesemia 4
- c.1049_1066+30dup Single submitter
- c.1067-222G>A Single submitter
- c.1189+315G>A Single submitter
- c.1189+331C>A Single submitter
- c.127+19del Single submitter
- c.1312+203C>T Single submitter
- c.1313-175C>A Single submitter
- c.1313-277G>A Single submitter
- c.1313-92dup Single submitter
- c.1438+291T>C Single submitter
- c.1439-315A>T Single submitter
- c.1575+11G>A Single submitter
- c.1575+175T>C Single submitter
- c.1576-297ATCT[11] Single submitter
- c.1576-297ATCT[12] Single submitter
- c.1576-297ATCT[13] Single submitter
- c.1576-297ATCT[8] Single submitter
- c.1576-29del Single submitter
- c.1724+254T>A Single submitter
- c.1830-281T>G Single submitter
- c.2053+144G>A Single submitter
- c.2053+20G>A Single submitter
- c.2222-329T>C Single submitter
- c.2372-130C>T Single submitter
- c.2491+276C>T Single submitter
- c.2492-161C>T Single submitter
- c.2492-311A>G Single submitter
- c.2608+153A>C Single submitter
- c.2608+348_2608+350dup Single submitter
- c.2608+350del Single submitter
- c.2608+350dup Single submitter
- c.2734+151G>A Single submitter
- c.2735-185C>G Single submitter
- c.2735-252_2735-251insGTT Single submitter
- c.3005+144G>A Single submitter
- c.3174-289AC[17] Single submitter
- c.3174-289AC[19] Single submitter
- c.3174-289AC[20] Single submitter
- c.3174-289AC[21] Single submitter
- c.3174-290_3174-281del Single submitter
- c.3174-290_3174-289del Single submitter
- c.3174-292_3174-291dup Single submitter
- c.3292-16T>A Single submitter
- c.3292-180G>A Single submitter
- c.3370+123C>G Single submitter
- c.3370+267G>A Single submitter
- c.3371-14del Single submitter
- c.3371-151dup Single submitter
- c.509+132G>A Single submitter
- c.737+141G>A Single submitter
- c.737+153G>T Single submitter
- c.737+207A>G Single submitter
- c.737+240A>G Single submitter
- c.737+243A>G Single submitter
- c.737+260T>C Single submitter
- c.737+262C>T Single submitter
- c.737+321T>G Single submitter
- c.940+17C>T Single submitter
- c.940+286G>A Single submitter
- c.*1222A>G Single submitter renal hypomagnesemia 4
- c.*1244T>C Single submitter renal hypomagnesemia 4
- c.*1435T>C Single submitter renal hypomagnesemia 4
Benign/Likely benign 17
- c.1190-10T>C Multiple submitters renal hypomagnesemia 4
- c.1313-10G>T Multiple submitters renal hypomagnesemia 4
- c.941-9C>A Multiple submitters renal hypomagnesemia 4
- c.-424G>A Multiple submitters renal hypomagnesemia 4
- p.Ala1084Gly Multiple submitters renal hypomagnesemia 4
- p.Asp257His Multiple submitters renal hypomagnesemia 4 ⚠
- p.Glu460= Multiple submitters renal hypomagnesemia 4
- p.Ile240= Multiple submitters renal hypomagnesemia 4
- p.Leu1043Phe Multiple submitters
- p.Leu1063= Multiple submitters renal hypomagnesemia 4
- p.Leu292His Multiple submitters renal hypomagnesemia 4 ⚠
- p.Ser16Arg Multiple submitters renal hypomagnesemia 4 ⚠
- p.Ser638Arg Multiple submitters renal hypomagnesemia 4 ⚠
- p.Ser766Leu Multiple submitters renal hypomagnesemia 4 ⚠
- p.Thr1174Asn Multiple submitters renal hypomagnesemia 4
- p.Val1040Met Multiple submitters renal hypomagnesemia 4 ⚠
- p.Val811= Multiple submitters renal hypomagnesemia 4
Likely benign 153
- c.127+107T>C Multiple submitters
- c.127+29G>T Multiple submitters
- c.128-186C>T Multiple submitters
- c.1576-192T>A Multiple submitters
- c.1576-84T>C Multiple submitters
- c.2857+103C>G Multiple submitters
- c.3006-111G>A Multiple submitters
- c.3173+126C>G Multiple submitters
- c.3174-307A>G Multiple submitters
- c.510-167G>A Multiple submitters
- c.737+11C>T Multiple submitters renal hypomagnesemia 4
- c.737+91G>A Multiple submitters
- c.940+11_940+12inv Multiple submitters renal hypomagnesemia 4
- c.941-106T>C Multiple submitters
- p.Gly575Arg Multiple submitters renal hypomagnesemia 4 ⚠
- p.Ser326= Multiple submitters renal hypomagnesemia 4
- p.Thr64= Multiple submitters renal hypomagnesemia 4
- p.Val1033= Multiple submitters renal hypomagnesemia 4
- p.Val297= Multiple submitters renal hypomagnesemia 4
- c.1189+216dup Single submitter
- c.1190-14T>C Single submitter
- c.1190-17del Single submitter
- c.1190-19C>T Single submitter
- c.127+13A>G Single submitter
- c.127+302A>G Single submitter
- c.127+7A>G Single submitter
- c.127+9T>C Single submitter
- c.1312+200T>G Single submitter
- c.1313-12T>C Single submitter
- c.1575+13del Single submitter
- c.1575+17del Single submitter
- c.1576-12T>C Single submitter
- c.1576-297ATCT[10] Single submitter
- c.1576-297ATCT[14] Single submitter
- c.1724+15T>A Single submitter
- c.1724+17A>T Single submitter
- c.1829+13A>G Single submitter
- c.1829+18T>A Single submitter
- c.2053+194G>A Single submitter
- c.2053+19C>A Single submitter
- c.2053+19C>T Single submitter
- c.2054-19A>C Single submitter
- c.2054-310A>G Single submitter
- c.2221+125G>T Single submitter
- c.2221+279G>A Single submitter
- c.2222-15T>C Single submitter
- c.2222-18G>A Single submitter
- c.2371+9A>G Single submitter
- c.2372-15A>C Single submitter
- c.2372-15A>G Single submitter
- c.2372-7T>A Single submitter
- c.2491+12T>C Single submitter
- c.2491+8T>A Single submitter
- c.2492-4G>T Single submitter
- c.2608+143del Single submitter
- c.2608+284del Single submitter
- c.2608+33C>A Single submitter
- c.2609-38T>A Single submitter
- c.3005+16T>C Single submitter
- c.3005+199C>T Single submitter
- c.3005+8A>C Single submitter
- c.3006-17T>C Single submitter
- c.3173+15C>G Single submitter
- c.3173+19T>C Single submitter
- c.3174-283_3174-282insGA Single submitter
- c.3174-290_3174-287del Single submitter
- c.328-10G>T Single submitter
- c.3291+15G>A Single submitter
- c.3291+20T>C Single submitter
- c.3291+7T>A Single submitter
- c.3370+18G>A Single submitter
- c.3371-13G>T Single submitter
- c.3371-8T>C Single submitter
- c.737+99G>A Single submitter
- c.738-11T>A Single submitter
- c.940+16C>A Single submitter
- c.-102G>A Single submitter renal hypomagnesemia 4
- c.-342C>T Single submitter
- c.-447G>A Single submitter renal hypomagnesemia 4
- c.-78A>G Single submitter renal hypomagnesemia 4
- c.*1118A>C Single submitter renal hypomagnesemia 4
- c.*1266T>A Single submitter renal hypomagnesemia 4
- c.*1283C>T Single submitter renal hypomagnesemia 4
- c.*42C>T Single submitter renal hypomagnesemia 4
- c.*446C>T Single submitter renal hypomagnesemia 4
- p.Ala941= Single submitter
- p.Arg1163Ter Single submitter
- p.Arg184= Single submitter
- p.Arg213= Single submitter
- p.Arg546= Single submitter
- p.Arg678= Single submitter
- p.Asn749= Single submitter
- p.Asp1016Glu Single submitter ⚠
- p.Asp279= Single submitter
- p.Asp660= Single submitter
- p.Asp973= Single submitter
- p.Cys1039= Single submitter
- p.Cys436= Single submitter
- p.Cys451= Single submitter
- p.Gln1112= Single submitter
- p.Gln482= Single submitter
- p.Gln96= Single submitter
- p.Glu1143= Single submitter
- p.Gly1053= Single submitter
- p.Gly433Glu Single submitter
- p.Gly466= Single submitter
- p.Gly504= Single submitter
- p.Gly618= Single submitter
- p.Gly791= Single submitter
- p.Gly982= Single submitter
- p.His1024= Single submitter
- p.His151= Single submitter
- p.Ile152= Single submitter
- p.Leu1017= Single submitter
- p.Leu1046= Single submitter
- p.Leu1048= Single submitter
- p.Leu196= Single submitter
- p.Leu2= Single submitter
- p.Leu320= Single submitter
- p.Leu33= Single submitter
- p.Leu334= Single submitter
- p.Leu517= Single submitter
- p.Leu533= Single submitter
- p.Leu578= Single submitter
- p.Leu612= Single submitter
- p.Leu652= Single submitter
- p.Leu783= Single submitter
- p.Leu823= Single submitter
- p.Leu858= Single submitter
- p.Lys1061= Single submitter
- p.Met939Thr Single submitter
- p.Pro402= Single submitter
- p.Pro442= Single submitter
- p.Pro557= Single submitter
- p.Ser1064= Single submitter
- p.Ser1074= Single submitter
- p.Ser1164= Single submitter
- p.Ser224= Single submitter
- p.Ser39= Single submitter
- p.Ser589= Single submitter
- p.Ser639= Single submitter
- p.Ser968= Single submitter
- p.Thr203= Single submitter
- p.Thr310= Single submitter
- p.Thr501Ala Single submitter ⚠
- p.Thr61= Single submitter
- p.Thr891= Single submitter
- p.Tyr570= Single submitter
- p.Tyr747His Single submitter
- p.Val111= Single submitter
- p.Val1179= Single submitter
- p.Val829= Single submitter
- p.Leu420= No assertion criteria EGF-related disorder
Uncertain significance 327
Showing the top 300 by review status; the full set is in the sitemap.
- c.1575+6G>T Multiple submitters renal hypomagnesemia 4
- c.2221+4C>T Multiple submitters renal hypomagnesemia 4
- c.2858-11G>T Multiple submitters renal hypomagnesemia 4
- c.-60C>T Multiple submitters renal hypomagnesemia 4
- p.Ala1025Ser Multiple submitters renal hypomagnesemia 4 ⚠
- p.Ala1037Val Multiple submitters renal hypomagnesemia 4 ⚠
- p.Ala45Val Multiple submitters ⚠
- p.Ala862Thr Multiple submitters ⚠
- p.Arg213Gln Multiple submitters renal hypomagnesemia 4 ⚠
- p.Arg221Thr Multiple submitters renal hypomagnesemia 4 ⚠
- p.Arg351Gln Multiple submitters renal hypomagnesemia 4 ⚠
- p.Arg394Ter Multiple submitters renal hypomagnesemia 4
- p.Arg494Ter Multiple submitters renal hypomagnesemia 4
- p.Arg567His Multiple submitters ⚠
- p.Arg622Ter Multiple submitters renal hypomagnesemia 4
- p.Asn1002Asp Multiple submitters ⚠
- p.Asp309Gly Multiple submitters ⚠
- p.Asp472Glu Multiple submitters renal hypomagnesemia 4 ⚠
- p.Asp640Gly Multiple submitters renal hypomagnesemia 4 ⚠
- p.Asp981Glu Multiple submitters ⚠
- p.Glu551Asp Multiple submitters ⚠
- p.Glu793Val Multiple submitters renal hypomagnesemia 4 ⚠
- p.His495Arg Multiple submitters ⚠
- p.Ile597Met Multiple submitters ⚠
- p.Leu254Pro Multiple submitters ⚠
- p.Leu631Phe Multiple submitters ⚠
- p.Lys296Thr Multiple submitters EGF-related disorder ⚠
- p.Met1161Val Multiple submitters ⚠
- p.Met991Ile Multiple submitters ⚠
- p.Pro952Arg Multiple submitters ⚠
- p.Ser155Asn Multiple submitters renal hypomagnesemia 4 ⚠
- p.Ser16Thr Multiple submitters renal hypomagnesemia 4 ⚠
- p.Thr680Ile Multiple submitters ⚠
- p.Tyr379Phe Multiple submitters ⚠
- p.Val452Ile Multiple submitters renal hypomagnesemia 4 ⚠
- p.Val457Ile Multiple submitters ⚠
- p.Val562Leu Multiple submitters renal hypomagnesemia 4 ⚠
- p.Val811Ala Multiple submitters ⚠
- p.Val896Ala Multiple submitters ⚠
- c.1066+12A>G Single submitter renal hypomagnesemia 4
- c.1066+7_1066+30del Single submitter
- c.1066+7_1066+30dup Single submitter
- c.1190-2A>G Single submitter
- c.127+14T>A Single submitter renal hypomagnesemia 4
- c.128-17T>C Single submitter
- c.1313-3T>C Single submitter
- c.1438+1G>T Single submitter
- c.1438+3T>A Single submitter
- c.1575+6G>A Single submitter renal hypomagnesemia 4
- c.1829+5G>T Single submitter
- c.2053+6G>C Single submitter
- c.2053+6G>T Single submitter
- c.2372-4A>G Single submitter
- c.2608+14G>A Single submitter renal hypomagnesemia 4
- c.2608+5G>A Single submitter
- c.3173+6C>T Single submitter
- c.328-14A>G Single submitter
- c.328-15A>G Single submitter
- c.3371-12T>C Single submitter renal hypomagnesemia 4
- c.3371-1G>T Single submitter
- c.-127A>C Single submitter renal hypomagnesemia 4
- c.-140A>G Single submitter renal hypomagnesemia 4
- c.-228G>C Single submitter renal hypomagnesemia 4
- c.-265G>T Single submitter renal hypomagnesemia 4
- c.-270T>G Single submitter renal hypomagnesemia 4
- c.-273T>C Single submitter renal hypomagnesemia 4
- c.-283G>C Single submitter renal hypomagnesemia 4
- c.-342C>G Single submitter renal hypomagnesemia 4
- c.-361C>G Single submitter renal hypomagnesemia 4
- c.*1001C>G Single submitter renal hypomagnesemia 4
- c.*1005A>G Single submitter renal hypomagnesemia 4
- c.*1068G>A Single submitter renal hypomagnesemia 4
- c.*107C>T Single submitter renal hypomagnesemia 4
- c.*1220G>A Single submitter renal hypomagnesemia 4
- c.*1265T>A Single submitter renal hypomagnesemia 4
- c.*1305T>C Single submitter renal hypomagnesemia 4
- c.*1356T>C Single submitter renal hypomagnesemia 4
- c.*157G>A Single submitter renal hypomagnesemia 4
- c.*184A>C Single submitter renal hypomagnesemia 4
- c.*18A>G Single submitter renal hypomagnesemia 4
- c.*201A>C Single submitter renal hypomagnesemia 4
- c.*361T>C Single submitter renal hypomagnesemia 4
- c.*411A>G Single submitter renal hypomagnesemia 4
- c.*479T>C Single submitter renal hypomagnesemia 4
- c.*561G>C Single submitter renal hypomagnesemia 4
- c.*67A>G Single submitter renal hypomagnesemia 4
- c.*835G>A Single submitter renal hypomagnesemia 4
- c.*929G>A Single submitter renal hypomagnesemia 4
- c.*937G>T Single submitter renal hypomagnesemia 4
- p.Ala1025Thr Single submitter ⚠
- p.Ala1115Ser Single submitter ⚠
- p.Ala1121Ser Single submitter ⚠
- p.Ala161Pro Single submitter ⚠
- p.Ala34Thr Single submitter ⚠
- p.Ala478Pro Single submitter ⚠
- p.Ala529Ser Single submitter ⚠
- p.Ala691Thr Single submitter ⚠
- p.Ala691Val Single submitter
- p.Ala995Gly Single submitter ⚠
- p.Arg100Gly Single submitter ⚠
- p.Arg100Ile Single submitter ⚠
- p.Arg1015Gln Single submitter ⚠
- p.Arg1015Leu Single submitter ⚠
- p.Arg1015Ter Single submitter
- p.Arg1023His Single submitter ⚠
- p.Arg1081Cys Single submitter ⚠
- p.Arg1081His Single submitter ⚠
- p.Arg258Cys Single submitter ⚠
- p.Arg258His Single submitter ⚠
- p.Arg351= Single submitter
- p.Arg394Gln Single submitter ⚠
- p.Arg394Gly Single submitter ⚠
- p.Arg403Cys Single submitter ⚠
- p.Arg403His Single submitter ⚠
- p.Arg546Ter Single submitter
- p.Arg548Ser Single submitter ⚠
- p.Arg581Lys Single submitter ⚠
- p.Arg588Cys Single submitter ⚠
- p.Arg588His Single submitter ⚠
- p.Arg611Ser Single submitter ⚠
- p.Arg622Gln Single submitter ⚠
- p.Arg633Leu Single submitter ⚠
- p.Arg718Ter Single submitter
- p.Arg845Gln Single submitter ⚠
- p.Arg845Leu Single submitter ⚠
- p.Arg845Trp Single submitter ⚠
- p.Arg898Gln Single submitter ⚠
- p.Arg898Trp Single submitter ⚠
- p.Arg943Cys Single submitter ⚠
- p.Asn1109Lys Single submitter ⚠
- p.Asn148Ser Single submitter ⚠
- p.Asn220Ser Single submitter ⚠
- p.Asn248Asp Single submitter renal hypomagnesemia 4 ⚠
- p.Asn620His Single submitter ⚠
- p.Asn65Ser Single submitter ⚠
- p.Asn84del Single submitter
- p.Asn890Asp Single submitter ⚠
- p.Asp1153Gly Single submitter ⚠
- p.Asp186Glu Single submitter ⚠
- p.Asp186Tyr Single submitter ⚠
- p.Asp279Asn Single submitter renal hypomagnesemia 4 ⚠
- p.Asp309Glu Single submitter ⚠
- p.Asp411His Single submitter ⚠
- p.Asp443Asn Single submitter ⚠
- p.Asp462Val Single submitter ⚠
- p.Asp472Asn Single submitter ⚠
- p.Asp660Asn Single submitter ⚠
- p.Asp672Gly Single submitter ⚠
- p.Asp695Ala Single submitter ⚠
- p.Asp776Gly Single submitter ⚠
- p.Asp864Tyr Single submitter ⚠
- p.Asp872Asn Single submitter ⚠
- p.Asp912Gly Single submitter ⚠
- p.Asp914= Single submitter renal hypomagnesemia 4
- p.Cys1039Ter Single submitter
- p.Cys229Phe Single submitter ⚠
- p.Cys330Tyr Single submitter ⚠
- p.Cys371Ser Single submitter ⚠
- p.Cys380Phe Single submitter ⚠
- p.Cys421fs Single submitter
- p.Cys846Ser Single submitter ⚠
- p.Cys923Phe Single submitter ⚠
- p.Cys940Tyr Single submitter ⚠
- p.Gln1095Ter Single submitter
- p.Gln1105Glu Single submitter ⚠
- p.Gln1112Pro Single submitter ⚠
- p.Gln1120Ter Single submitter
- p.Gln1159Lys Single submitter ⚠
- p.Gln1173Glu Single submitter ⚠
- p.Gln1173His Single submitter ⚠
- p.Gln24Leu Single submitter ⚠
- p.Gln335Ter Single submitter EGF-related disorder
- p.Gln491Arg Single submitter ⚠
- p.Gln681Arg Single submitter ⚠
- p.Glu1162Lys Single submitter ⚠
- p.Glu1176Asp Single submitter ⚠
- p.Glu169Lys Single submitter ⚠
- p.Glu62Asp Single submitter ⚠
- p.Glu694Asp Single submitter renal hypomagnesemia 4 ⚠
- p.Glu826Lys Single submitter ⚠
- p.Glu892Asp Single submitter ⚠
- p.Glu920Val Single submitter
- p.Gly1009Arg Single submitter ⚠
- p.Gly1028Ala Single submitter ⚠
- p.Gly1053Glu Single submitter ⚠
- p.Gly1116Cys Single submitter renal hypomagnesemia 4 ⚠
- p.Gly1124Val Single submitter ⚠
- p.Gly1178Cys Single submitter ⚠
- p.Gly138Glu Single submitter ⚠
- p.Gly147Ala Single submitter ⚠
- p.Gly180Arg Single submitter ⚠
- p.Gly277Val Single submitter ⚠
- p.Gly370Val Single submitter ⚠
- p.Gly418Val Single submitter ⚠
- p.Gly446Arg Single submitter renal hypomagnesemia 4 ⚠
- p.Gly618Glu Single submitter ⚠
- p.Gly673Asp Single submitter ⚠
- p.Gly723Arg Single submitter ⚠
- p.Gly750Arg Single submitter ⚠
- p.Gly751Ala Single submitter ⚠
- p.Gly839Glu Single submitter ⚠
- p.Gly865Ala Single submitter ⚠
- p.Gly865Arg Single submitter ⚠
- p.Gly877Ser Single submitter ⚠
- p.Gly894= Single submitter renal hypomagnesemia 4
- p.Gly919Arg Single submitter renal hypomagnesemia 4 ⚠
- p.Gly948Val Single submitter ⚠
- p.His275Arg Single submitter ⚠
- p.His299Tyr Single submitter ⚠
- p.His754Arg Single submitter ⚠
- p.His966Gln Single submitter ⚠
- p.Ile1008Thr Single submitter ⚠
- p.Ile114Arg Single submitter ⚠
- p.Ile114Thr Single submitter ⚠
- p.Ile526Val Single submitter ⚠
- p.Ile597Phe Single submitter ⚠
- p.Ile623Asn Single submitter ⚠
- p.Ile623Phe Single submitter ⚠
- p.Ile649Thr Single submitter ⚠
- p.Ile755Val Single submitter ⚠
- p.Ile805Val Single submitter ⚠
- p.Ile871Met Single submitter ⚠
- p.Ile908Thr Single submitter ⚠
- p.Leu1185Val Single submitter ⚠
- p.Leu1205Val Single submitter ⚠
- p.Leu285Phe Single submitter ⚠
- p.Leu338Phe Single submitter ⚠
- p.Leu369Pro Single submitter ⚠
- p.Leu420Val Single submitter renal hypomagnesemia 4 ⚠
- p.Leu454Val Single submitter ⚠
- p.Leu584Ile Single submitter ⚠
- p.Leu656Met Single submitter ⚠
- p.Leu783Val Single submitter ⚠
- p.Leu858Ter Single submitter
- p.Lys1032Gln Single submitter ⚠
- p.Lys14Thr Single submitter ⚠
- p.Lys434Arg Single submitter ⚠
- p.Lys594Gln Single submitter ⚠
- p.Lys797Arg Single submitter ⚠
- p.Lys808Asn Single submitter ⚠
- p.Met1167Thr Single submitter ⚠
- p.Met145Thr Single submitter ⚠
- p.Met1fs Single submitter
- p.Met252Lys Single submitter ⚠
- p.Met252Val Single submitter ⚠
- p.Met266Thr Single submitter ⚠
- p.Met280Leu Single submitter ⚠
- p.Met280Val Single submitter ⚠
- p.Met496Thr Single submitter ⚠
- p.Met513Val Single submitter ⚠
- p.Met772Arg Single submitter ⚠
- p.Met772Val Single submitter ⚠
- p.Met939Val Single submitter ⚠
- p.Pro1096Ser Single submitter renal hypomagnesemia 4 ⚠
- p.Pro1128Gln Single submitter ⚠
- p.Pro1135Ser Single submitter ⚠
- p.Pro23Leu Single submitter ⚠
- p.Pro244Gln Single submitter renal hypomagnesemia 4 ⚠
- p.Pro244Ser Single submitter ⚠
- p.Pro390Ser Single submitter ⚠
- p.Pro424Ser Single submitter ⚠
- p.Pro483Gln Single submitter ⚠
- p.Pro557Thr Single submitter ⚠
- p.Pro740Ala Single submitter ⚠
- p.Pro883Ala Single submitter ⚠
- p.Pro956Ala Single submitter ⚠
- p.Pro957Leu Single submitter ⚠
- p.Pro957Ser Single submitter ⚠
- p.Ser106Pro Single submitter ⚠
- p.Ser1152_Ser1156del Single submitter
- p.Ser1184Pro Single submitter ⚠
- p.Ser155Arg Single submitter ⚠
- p.Ser181Arg Single submitter ⚠
- p.Ser19Arg Single submitter ⚠
- p.Ser21Leu Single submitter ⚠
- p.Ser241Gly Single submitter ⚠
- p.Ser27Thr Single submitter ⚠
- p.Ser437= Single submitter
- p.Ser455fs Single submitter
- p.Ser455Thr Single submitter ⚠
- p.Ser490fs Single submitter
- p.Ser55Gly Single submitter ⚠
- p.Ser589del Single submitter
- p.Ser626Phe Single submitter ⚠
- p.Ser869Phe Single submitter ⚠
- p.Ser885Phe Single submitter ⚠
- p.Ser954Thr Single submitter ⚠
- p.Thr268Lys Single submitter renal hypomagnesemia 4 ⚠
- p.Thr374Ile Single submitter ⚠
- p.Thr415Ile Single submitter ⚠
- p.Thr4Ile Single submitter ⚠
- p.Thr648Met Single submitter ⚠
- p.Thr779Met Single submitter ⚠
- p.Trp1052Leu Single submitter ⚠
- p.Trp363Ter Single submitter
- p.Trp564Ter Single submitter
- p.Tyr1057= Single submitter
- p.Tyr159Cys Single submitter ⚠
- p.Tyr219Cys Single submitter ⚠
- p.Tyr219His Single submitter ⚠