CORIN — 224 ClinVar variants
All ClinVar germline CORIN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 175 flagged for review →
3 Pathogenic · 1 Likely pathogenic · 1 Conflicting · 8 Benign · 4 Benign/Likely benign · 31 Likely benign · 176 Uncertain significance
Full CORIN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 175
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.
-
CORIN p.Ser472Gly
Pathogenic
No assertion criteria
preeclampsia/eclampsia 5
Predictors lean, ClinVar uncertain 140
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CORIN p.Ser542Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CORIN p.Ala138Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Ala357Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Ala39Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Ala41Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Ala531Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Ala57Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Ala678Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Ala708Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Arg12His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Arg180Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Arg45Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Arg588His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Arg670Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Arg670His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Arg749Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Arg792Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Arg797Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Arg806Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Arg886Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Arg948Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Asn141Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Asn309Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Asn501Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Asn664Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Asn761Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Asn80Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Asn861Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Asp202Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Asp204Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Asp27Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Asp367Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Asp367Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Asp425Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Asp554Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Asp574Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Asp600Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Cys139Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Cys256Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Cys295Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Cys592Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Cys599Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Cys630Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Cys655Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Cys662Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Cys991Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Gln105Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Gln105His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Gln242Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Gln261Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Gln266Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Gln422Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Gln629Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Gln729Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Glu403Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Glu659Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Glu734Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Glu745Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Glu767Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Glu849Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Glu917Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Glu921Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Glu921Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Gly129Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Gly272Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Gly351Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Gly364Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Gly383Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Gly439Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Gly762Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Gly932Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Gly983Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Gly986Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.His366Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.His826Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Ile1036Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Ile201Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Ile201Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Ile281Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Ile52Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Ile636Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Ile860Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Ile949Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Leu1040Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Leu159Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Leu462Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Leu49Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Leu760Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Leu989His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Lys220Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Lys286Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Lys650Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Lys746Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Met464Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Met572Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Met703Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Met934Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Met968Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Phe874Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Pro119Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Pro128Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Pro158Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Pro235Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Pro284Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Ser106Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Ser145Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Ser18Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Ser18Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Ser250Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Ser420Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Ser626Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Ser699Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Ser723Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Ser782Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Thr101Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Thr123Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Thr143Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- CORIN p.Thr345Ala Uncertain significance Single submitter
-
CORIN p.Thr40Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Thr471Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Thr752Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Thr752Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Thr763Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Thr807Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Thr840Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Thr966Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Trp919Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Tyr177His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Tyr184Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Tyr184Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Tyr576Cys
Uncertain significance
Single submitter
preeclampsia/eclampsia 5
-
CORIN p.Val1019Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Val1023Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Val385Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Val593Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Val838Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Val853Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Val853Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Val888Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Pro467Arg
Uncertain significance
No assertion criteria
prostate cancer
Predictors split 34
The independent predictors disagree with each other — read with care.
-
CORIN p.Ser683Cys
Benign/Likely benign
Multiple submitters
preeclampsia/eclampsia 5
-
CORIN p.Val361Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CORIN p.Arg354Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- CORIN p.Arg354His Uncertain significance Single submitter
- CORIN p.Arg539Cys Uncertain significance Single submitter
-
CORIN p.Arg588Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Arg873Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Arg948His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Asn613Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Asp604Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Cys34Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Cys443Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Cys830Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Glu386Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Glu618Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Glu846Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Gly478Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Gly590Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Gly859Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Gly976Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.His366Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Ile827Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Ile949Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Leu497Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Phe243Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Ser1021Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Ser137Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Ser279Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Ser699Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Thr155Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Trp121Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Tyr973Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Val1019Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CORIN p.Lys317Glu
Pathogenic
No assertion criteria
preeclampsia/eclampsia 5
All CORIN variants
Pathogenic 3
- p.Met229fs Single submitter atrial fibrillation
- p.Lys317Glu No assertion criteria preeclampsia/eclampsia 5 ⚠
- p.Ser472Gly No assertion criteria preeclampsia/eclampsia 5 ⚠
Likely pathogenic 1
- p.Ser669fs Single submitter cardiomyopathy, familial hypertrophic, 30, atrial
Conflicting classifications of pathogenicity 1
- p.Ser4fs Single submitter preeclampsia/eclampsia 5
Benign 8
- c.617+7C>T Multiple submitters
- p.Gln568Pro Multiple submitters
- p.Gly935= Multiple submitters
- p.Thr555Ile Multiple submitters
- p.Thr763= Multiple submitters
- c.2068+102C>T Single submitter
- c.618-3dup Single submitter
- p.Arg792His Single submitter
Benign/Likely benign 4
- c.1133-10T>C Multiple submitters
- p.Gly401= Multiple submitters
- p.Ser683Cys Multiple submitters preeclampsia/eclampsia 5 ⚠
- p.Thr396= Multiple submitters
Likely benign 31
- p.Ile102Val Multiple submitters Inborn genetic diseases
- c.1132+17C>T Single submitter
- c.1133-18T>G Single submitter
- c.2068+179C>T Single submitter
- c.2068+38A>G Single submitter
- c.2199-7G>A Single submitter
- c.2366-9C>G Single submitter
- c.2946+15G>T Single submitter
- c.617+17A>G Single submitter
- c.800-3del Single submitter
- p.Ala707Ser Single submitter Inborn genetic diseases
- p.Arg180His Single submitter
- p.Arg749Gln Single submitter Inborn genetic diseases
- p.Asn263= Single submitter
- p.Asp300= Single submitter
- p.Asp648= Single submitter
- p.Glu10Lys Single submitter
- p.Gly285Arg Single submitter Inborn genetic diseases
- p.His525Tyr Single submitter
- p.Leu276= Single submitter
- p.Pro344= Single submitter
- p.Pro445Leu Single submitter Inborn genetic diseases
- p.Pro495= Single submitter
- p.Pro866= Single submitter
- p.Val59Ile Single submitter Inborn genetic diseases
- c.2068+182C>T No assertion criteria CORIN-related disorder
- c.2365+3G>A No assertion criteria CORIN-related disorder
- c.2813-4del No assertion criteria CORIN-related disorder
- c.618-4_618-3dup No assertion criteria CORIN-related disorder
- p.Gln246= No assertion criteria CORIN-related disorder
- p.Leu127Phe No assertion criteria CORIN-related disorder
Uncertain significance 176
- p.Ser542Thr Multiple submitters Inborn genetic diseases ⚠
- p.Val361Met Multiple submitters Inborn genetic diseases ⚠
- p.Ala138Asp Single submitter Inborn genetic diseases ⚠
- p.Ala357Ser Single submitter Inborn genetic diseases ⚠
- p.Ala39Val Single submitter Inborn genetic diseases ⚠
- p.Ala41Gly Single submitter Inborn genetic diseases ⚠
- p.Ala531Val Single submitter Inborn genetic diseases ⚠
- p.Ala57Thr Single submitter Inborn genetic diseases ⚠
- p.Ala678Asp Single submitter Inborn genetic diseases ⚠
- p.Ala708Ser Single submitter Inborn genetic diseases ⚠
- p.Arg12His Single submitter Inborn genetic diseases ⚠
- p.Arg180Cys Single submitter Inborn genetic diseases ⚠
- p.Arg354Cys Single submitter Inborn genetic diseases ⚠
- p.Arg354His Single submitter ⚠
- p.Arg45Trp Single submitter Inborn genetic diseases ⚠
- p.Arg539Cys Single submitter ⚠
- p.Arg588Cys Single submitter Inborn genetic diseases ⚠
- p.Arg588His Single submitter Inborn genetic diseases ⚠
- p.Arg670Cys Single submitter Inborn genetic diseases ⚠
- p.Arg670His Single submitter Inborn genetic diseases ⚠
- p.Arg749Trp Single submitter Inborn genetic diseases ⚠
- p.Arg792Leu Single submitter Inborn genetic diseases ⚠
- p.Arg797Gln Single submitter Inborn genetic diseases ⚠
- p.Arg806Gln Single submitter Inborn genetic diseases ⚠
- p.Arg873Cys Single submitter Inborn genetic diseases ⚠
- p.Arg883Cys Single submitter Inborn genetic diseases
- p.Arg886Gln Single submitter Inborn genetic diseases ⚠
- p.Arg948Cys Single submitter Inborn genetic diseases ⚠
- p.Arg948His Single submitter Inborn genetic diseases ⚠
- p.Asn141Ser Single submitter Inborn genetic diseases ⚠
- p.Asn309Thr Single submitter Inborn genetic diseases ⚠
- p.Asn501Ser Single submitter Inborn genetic diseases ⚠
- p.Asn613Tyr Single submitter Inborn genetic diseases ⚠
- p.Asn664Lys Single submitter Inborn genetic diseases ⚠
- p.Asn761Ser Single submitter Inborn genetic diseases ⚠
- p.Asn80Asp Single submitter Inborn genetic diseases ⚠
- p.Asn861Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp202Glu Single submitter Inborn genetic diseases ⚠
- p.Asp204Asn Single submitter Inborn genetic diseases ⚠
- p.Asp27Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp367Asn Single submitter Inborn genetic diseases ⚠
- p.Asp367Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp425Glu Single submitter Inborn genetic diseases ⚠
- p.Asp554Gly Single submitter Inborn genetic diseases ⚠
- p.Asp574Glu Single submitter Inborn genetic diseases ⚠
- p.Asp600Gly Single submitter Inborn genetic diseases ⚠
- p.Asp604Asn Single submitter Inborn genetic diseases ⚠
- p.Cys139Arg Single submitter Inborn genetic diseases ⚠
- p.Cys256Arg Single submitter Inborn genetic diseases ⚠
- p.Cys295Arg Single submitter Inborn genetic diseases ⚠
- p.Cys34Phe Single submitter Inborn genetic diseases ⚠
- p.Cys443Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys592Arg Single submitter Inborn genetic diseases ⚠
- p.Cys599Arg Single submitter Inborn genetic diseases ⚠
- p.Cys630Ser Single submitter Inborn genetic diseases ⚠
- p.Cys655Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys662Trp Single submitter Inborn genetic diseases ⚠
- p.Cys830Ser Single submitter Inborn genetic diseases ⚠
- p.Cys991Ser Single submitter Inborn genetic diseases ⚠
- p.Gln105Arg Single submitter Inborn genetic diseases ⚠
- p.Gln105His Single submitter Inborn genetic diseases ⚠
- p.Gln242Leu Single submitter Inborn genetic diseases ⚠
- p.Gln261Arg Single submitter Inborn genetic diseases ⚠
- p.Gln266Arg Single submitter Inborn genetic diseases ⚠
- p.Gln422Glu Single submitter Inborn genetic diseases ⚠
- p.Gln629Arg Single submitter Inborn genetic diseases ⚠
- p.Gln729Pro Single submitter Inborn genetic diseases ⚠
- p.Glu386Val Single submitter Inborn genetic diseases ⚠
- p.Glu403Lys Single submitter Inborn genetic diseases ⚠
- p.Glu618Gly Single submitter Inborn genetic diseases ⚠
- p.Glu659Ala Single submitter Inborn genetic diseases ⚠
- p.Glu734Asp Single submitter Inborn genetic diseases ⚠
- p.Glu745Lys Single submitter Inborn genetic diseases ⚠
- p.Glu767Gly Single submitter Inborn genetic diseases ⚠
- p.Glu846Lys Single submitter Inborn genetic diseases ⚠
- p.Glu849Gln Single submitter Inborn genetic diseases ⚠
- p.Glu917Lys Single submitter Inborn genetic diseases ⚠
- p.Glu921Asp Single submitter Inborn genetic diseases ⚠
- p.Glu921Lys Single submitter Inborn genetic diseases ⚠
- p.Gly129Ala Single submitter Inborn genetic diseases ⚠
- p.Gly272Asp Single submitter Inborn genetic diseases ⚠
- p.Gly351Trp Single submitter Inborn genetic diseases ⚠
- p.Gly364Asp Single submitter Inborn genetic diseases ⚠
- p.Gly383Asp Single submitter Inborn genetic diseases
- p.Gly383Cys Single submitter Inborn genetic diseases ⚠
- p.Gly439Ser Single submitter Inborn genetic diseases ⚠
- p.Gly478Asp Single submitter Inborn genetic diseases ⚠
- p.Gly590Val Single submitter Inborn genetic diseases ⚠
- p.Gly731Asp Single submitter Inborn genetic diseases
- p.Gly762Glu Single submitter Inborn genetic diseases ⚠
- p.Gly859Ser Single submitter Inborn genetic diseases ⚠
- p.Gly932Cys Single submitter Inborn genetic diseases ⚠
- p.Gly976Asp Single submitter Inborn genetic diseases ⚠
- p.Gly983Ser Single submitter Inborn genetic diseases ⚠
- p.Gly986Cys Single submitter Inborn genetic diseases ⚠
- p.His366Gln Single submitter Inborn genetic diseases ⚠
- p.His366Tyr Single submitter Inborn genetic diseases ⚠
- p.His826Pro Single submitter Inborn genetic diseases ⚠
- p.Ile1036Asn Single submitter Inborn genetic diseases ⚠
- p.Ile201Ser Single submitter Inborn genetic diseases ⚠
- p.Ile201Thr Single submitter Inborn genetic diseases ⚠
- p.Ile281Asn Single submitter Inborn genetic diseases ⚠
- p.Ile52Val Single submitter Inborn genetic diseases ⚠
- p.Ile636Met Single submitter Inborn genetic diseases ⚠
- p.Ile827Thr Single submitter Inborn genetic diseases ⚠
- p.Ile860Phe Single submitter Inborn genetic diseases ⚠
- p.Ile949Asn Single submitter Inborn genetic diseases ⚠
- p.Ile949Thr Single submitter Inborn genetic diseases ⚠
- p.Leu1040Val Single submitter Inborn genetic diseases ⚠
- p.Leu159Phe Single submitter Inborn genetic diseases ⚠
- p.Leu462Arg Single submitter Inborn genetic diseases ⚠
- p.Leu497Phe Single submitter Inborn genetic diseases ⚠
- p.Leu49Val Single submitter Inborn genetic diseases ⚠
- p.Leu760Phe Single submitter Inborn genetic diseases ⚠
- p.Leu989His Single submitter Inborn genetic diseases ⚠
- p.Lys220Glu Single submitter Inborn genetic diseases ⚠
- p.Lys286Arg Single submitter Inborn genetic diseases ⚠
- p.Lys650Glu Single submitter Inborn genetic diseases ⚠
- p.Lys746Ile Single submitter Inborn genetic diseases ⚠
- p.Met464Val Single submitter Inborn genetic diseases ⚠
- p.Met572Thr Single submitter Inborn genetic diseases ⚠
- p.Met703Val Single submitter Inborn genetic diseases ⚠
- p.Met934Ile Single submitter Inborn genetic diseases ⚠
- p.Met968Val Single submitter Inborn genetic diseases ⚠
- p.Phe243Leu Single submitter Inborn genetic diseases ⚠
- p.Phe874Ser Single submitter Inborn genetic diseases ⚠
- p.Pro119Ser Single submitter Inborn genetic diseases ⚠
- p.Pro128Ser Single submitter Inborn genetic diseases ⚠
- p.Pro158Ser Single submitter Inborn genetic diseases ⚠
- p.Pro235Leu Single submitter Inborn genetic diseases ⚠
- p.Pro284Ser Single submitter Inborn genetic diseases ⚠
- p.Ser1021Asn Single submitter Inborn genetic diseases ⚠
- p.Ser106Asn Single submitter Inborn genetic diseases ⚠
- p.Ser137Ile Single submitter Inborn genetic diseases ⚠
- p.Ser145Gly Single submitter Inborn genetic diseases ⚠
- p.Ser18Cys Single submitter Inborn genetic diseases ⚠
- p.Ser18Tyr Single submitter Inborn genetic diseases ⚠
- p.Ser250Asn Single submitter Inborn genetic diseases ⚠
- p.Ser279Gly Single submitter Inborn genetic diseases ⚠
- p.Ser420Leu Single submitter Inborn genetic diseases ⚠
- p.Ser626Thr Single submitter Inborn genetic diseases ⚠
- p.Ser699Phe Single submitter Inborn genetic diseases ⚠
- p.Ser699Thr Single submitter Inborn genetic diseases ⚠
- p.Ser723Arg Single submitter Inborn genetic diseases ⚠
- p.Ser782Tyr Single submitter Inborn genetic diseases ⚠
- p.Thr101Ala Single submitter Inborn genetic diseases ⚠
- p.Thr123Met Single submitter Inborn genetic diseases ⚠
- p.Thr143Asn Single submitter Inborn genetic diseases ⚠
- p.Thr155Met Single submitter Inborn genetic diseases ⚠
- p.Thr345Ala Single submitter ⚠
- p.Thr40Ala Single submitter Inborn genetic diseases ⚠
- p.Thr471Lys Single submitter Inborn genetic diseases ⚠
- p.Thr752Arg Single submitter Inborn genetic diseases ⚠
- p.Thr752Ile Single submitter Inborn genetic diseases ⚠
- p.Thr763Ile Single submitter Inborn genetic diseases ⚠
- p.Thr807Met Single submitter Inborn genetic diseases ⚠
- p.Thr840Ile Single submitter Inborn genetic diseases ⚠
- p.Thr966Ile Single submitter Inborn genetic diseases ⚠
- p.Trp121Arg Single submitter Inborn genetic diseases ⚠
- p.Trp919Arg Single submitter Inborn genetic diseases ⚠
- p.Tyr177His Single submitter Inborn genetic diseases ⚠
- p.Tyr184Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr184Phe Single submitter Inborn genetic diseases ⚠
- p.Tyr576Cys Single submitter preeclampsia/eclampsia 5 ⚠
- p.Tyr973Cys Single submitter Inborn genetic diseases ⚠
- p.Val1019Ala Single submitter Inborn genetic diseases ⚠
- p.Val1019Ile Single submitter Inborn genetic diseases ⚠
- p.Val1023Gly Single submitter Inborn genetic diseases ⚠
- p.Val385Gly Single submitter Inborn genetic diseases ⚠
- p.Val593Ile Single submitter Inborn genetic diseases ⚠
- p.Val838Ile Single submitter Inborn genetic diseases ⚠
- p.Val853Gly Single submitter Inborn genetic diseases ⚠
- p.Val853Ile Single submitter Inborn genetic diseases ⚠
- p.Val888Ala Single submitter Inborn genetic diseases ⚠
- p.Val896Ala Single submitter Inborn genetic diseases
- p.Pro467Arg No assertion criteria prostate cancer ⚠