LEFTY2 — 198 ClinVar variants
All ClinVar germline LEFTY2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 90 flagged for review →
9 Conflicting · 15 Benign · 10 Benign/Likely benign · 61 Likely benign · 103 Uncertain significance
Full LEFTY2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 90
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 agree, ClinVar conflicts 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
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LEFTY2 p.Ala358Val
Conflicting
Single submitter
Left-right axis malformations
-
LEFTY2 p.Lys279Glu
Conflicting
Single submitter
Left-right axis malformations
-
LEFTY2 p.Met346Leu
Conflicting
Single submitter
Left-right axis malformations
-
LEFTY2 p.Pro124Arg
Conflicting
Single submitter
Left-right axis malformations
-
LEFTY2 p.Thr336Ser
Conflicting
Single submitter
Left-right axis malformations
Predictors lean, ClinVar uncertain 71
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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LEFTY2 p.Arg243Gly
Uncertain significance
Multiple submitters
Left-right axis malformations
-
LEFTY2 p.Arg265Cys
Uncertain significance
Multiple submitters
Left-right axis malformations
-
LEFTY2 p.Arg314Gln
Uncertain significance
Multiple submitters
Left-right axis malformations
-
LEFTY2 p.Arg67His
Uncertain significance
Multiple submitters
Left-right axis malformations
-
LEFTY2 p.Arg83Gly
Uncertain significance
Multiple submitters
LEFTY2-related disorder
-
LEFTY2 p.Asp356Asn
Uncertain significance
Multiple submitters
Left-right axis malformations
-
LEFTY2 p.Gln200Glu
Uncertain significance
Multiple submitters
Left-right axis malformations
-
LEFTY2 p.Glu254Lys
Uncertain significance
Multiple submitters
Left-right axis malformations
-
LEFTY2 p.Glu39Lys
Uncertain significance
Multiple submitters
Left-right axis malformations
-
LEFTY2 p.Phe186Val
Uncertain significance
Multiple submitters
Left-right axis malformations
-
LEFTY2 p.Pro210Ser
Uncertain significance
Multiple submitters
Left-right axis malformations
-
LEFTY2 p.Pro300Ser
Uncertain significance
Multiple submitters
Left-right axis malformations
-
LEFTY2 p.Pro313Leu
Uncertain significance
Multiple submitters
Left-right axis malformations
-
LEFTY2 p.Ser191Cys
Uncertain significance
Multiple submitters
Left-right axis malformations
-
LEFTY2 p.Val40Leu
Uncertain significance
Multiple submitters
LEFTY2-related disorder
-
LEFTY2 p.Ala177Val
Uncertain significance
Single submitter
Left-right axis malformations
- LEFTY2 p.Ala303Val Uncertain significance Single submitter
- LEFTY2 p.Ala305Val Uncertain significance Single submitter
-
LEFTY2 p.Ala55Thr
Uncertain significance
Single submitter
Left-right axis malformations
- LEFTY2 p.Ala94Thr Uncertain significance Single submitter
-
LEFTY2 p.Arg119Gln
Uncertain significance
Single submitter
Left-right axis malformations
- LEFTY2 p.Arg119Trp Uncertain significance Single submitter
- LEFTY2 p.Arg192Trp Uncertain significance Single submitter
- LEFTY2 p.Arg220His Uncertain significance Single submitter
-
LEFTY2 p.Arg33Gln
Uncertain significance
Single submitter
Left-right axis malformations
-
LEFTY2 p.Arg66Leu
Uncertain significance
Single submitter
Left-right axis malformations
- LEFTY2 p.Asn307Ser Uncertain significance Single submitter
- LEFTY2 p.Asp252Asn Uncertain significance Single submitter
- LEFTY2 p.Asp47Asn Uncertain significance Single submitter
- LEFTY2 p.Asp71Asn Uncertain significance Single submitter
-
LEFTY2 p.Cys263Tyr
Uncertain significance
Single submitter
Left-right axis malformations
-
LEFTY2 p.Cys264Arg
Uncertain significance
Single submitter
Left-right axis malformations
-
LEFTY2 p.Cys264Tyr
Uncertain significance
Single submitter
Left-right axis malformations
-
LEFTY2 p.Cys293Gly
Uncertain significance
Single submitter
Left-right axis malformations
-
LEFTY2 p.Cys297Tyr
Uncertain significance
Single submitter
Left-right axis malformations
-
LEFTY2 p.Gln142Glu
Uncertain significance
Single submitter
Left-right axis malformations
-
LEFTY2 p.Gln349His
Uncertain significance
Single submitter
Left-right axis malformations
-
LEFTY2 p.Glu148Gly
Uncertain significance
Single submitter
Left-right axis malformations
-
LEFTY2 p.Glu259Lys
Uncertain significance
Single submitter
Left-right axis malformations
-
LEFTY2 p.Glu25Lys
Uncertain significance
Single submitter
Left-right axis malformations
-
LEFTY2 p.Glu332Lys
Uncertain significance
Single submitter
Left-right axis malformations
-
LEFTY2 p.Gly102Arg
Uncertain significance
Single submitter
Left-right axis malformations
-
LEFTY2 p.Gly134Arg
Uncertain significance
Single submitter
Left-right axis malformations
- LEFTY2 p.Gly19Ala Uncertain significance Single submitter
- LEFTY2 p.Gly231Arg Uncertain significance Single submitter
-
LEFTY2 p.Gly246Ala
Uncertain significance
Single submitter
Left-right axis malformations
-
LEFTY2 p.Gly333Arg
Uncertain significance
Single submitter
Left-right axis malformations
- LEFTY2 p.Gly70Glu Uncertain significance Single submitter
- LEFTY2 p.His238Gln Uncertain significance Single submitter
- LEFTY2 p.Ile163Leu Uncertain significance Single submitter
-
LEFTY2 p.Leu162Phe
Uncertain significance
Single submitter
Left-right axis malformations
- LEFTY2 p.Leu359Phe Uncertain significance Single submitter
- LEFTY2 p.Lys331Glu Uncertain significance Single submitter
-
LEFTY2 p.Met257Thr
Uncertain significance
Single submitter
Left-right axis malformations
- LEFTY2 p.Met268Ile Uncertain significance Single submitter
-
LEFTY2 p.Pro301Leu
Uncertain significance
Single submitter
Left-right axis malformations
- LEFTY2 p.Pro309Arg Uncertain significance Single submitter
- LEFTY2 p.Pro3Thr Uncertain significance Single submitter
- LEFTY2 p.Ser140Arg Uncertain significance Single submitter
-
LEFTY2 p.Ser165Phe
Uncertain significance
Single submitter
Left-right axis malformations
- LEFTY2 p.Ser191Gly Uncertain significance Single submitter
- LEFTY2 p.Ser30Ile Uncertain significance Single submitter
- LEFTY2 p.Ser329Arg Uncertain significance Single submitter
-
LEFTY2 p.Ser342Asn
Uncertain significance
Single submitter
Left-right axis malformations
- LEFTY2 p.Ser355Leu Uncertain significance Single submitter
- LEFTY2 p.Thr160Ser Uncertain significance Single submitter
-
LEFTY2 p.Thr258Ile
Uncertain significance
Single submitter
Left-right axis malformations
-
LEFTY2 p.Thr296Ile
Uncertain significance
Single submitter
Left-right axis malformations
-
LEFTY2 p.Val360Met
Uncertain significance
Single submitter
Left-right axis malformations
-
LEFTY2 p.Val42Ile
Uncertain significance
Single submitter
Left-right axis malformations
- LEFTY2 p.Val52Leu Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
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LEFTY2 p.Arg33Trp
Uncertain significance
Multiple submitters
Left-right axis malformations
-
LEFTY2 p.Arg72Cys
Benign/Likely benign
Multiple submitters
Left-right axis malformations
-
LEFTY2 p.Leu130Arg
Uncertain significance
Multiple submitters
Left-right axis malformations
-
LEFTY2 p.Ala318Thr
Uncertain significance
Single submitter
Left-right axis malformations
- LEFTY2 p.Arg262Cys Uncertain significance Single submitter
-
LEFTY2 p.Arg347Ser
Uncertain significance
Single submitter
Left-right axis malformations
-
LEFTY2 p.Arg67Cys
Uncertain significance
Single submitter
Left-right axis malformations
-
LEFTY2 p.Glu284Lys
Uncertain significance
Single submitter
Left-right axis malformations
-
LEFTY2 p.Leu130Pro
Uncertain significance
Single submitter
Left-right axis malformations
- LEFTY2 p.Leu90Pro Uncertain significance Single submitter
-
LEFTY2 p.Phe101Leu
Uncertain significance
Single submitter
Left-right axis malformations
- LEFTY2 p.Pro344Thr Conflicting Single submitter
- LEFTY2 p.Ser323Leu Uncertain significance Single submitter
-
LEFTY2 p.Ser92Leu
Conflicting
Single submitter
Left-right axis malformations
All LEFTY2 variants
Conflicting classifications of pathogenicity 9
- c.738-9C>T Single submitter Left-right axis malformations
- p.Ala358Val Single submitter Left-right axis malformations ⚠
- p.Ile270= Single submitter Left-right axis malformations
- p.Lys279Glu Single submitter Left-right axis malformations ⚠
- p.Met346Leu Single submitter Left-right axis malformations ⚠
- p.Pro124Arg Single submitter Left-right axis malformations ⚠
- p.Pro344Thr Single submitter ⚠
- p.Ser92Leu Single submitter Left-right axis malformations ⚠
- p.Thr336Ser Single submitter Left-right axis malformations ⚠
Benign 15
- c.250+27C>T Multiple submitters
- c.251-44G>C Multiple submitters
- c.497+13C>G Multiple submitters Left-right axis malformations
- c.738-113T>C Multiple submitters
- p.Arg66= Multiple submitters Left-right axis malformations
- p.Asn158= Multiple submitters Left-right axis malformations
- p.Thr258= Multiple submitters Left-right axis malformations
- p.Tyr291= Multiple submitters Left-right axis malformations
- p.Val328Ile Multiple submitters Left-right axis malformations
- c.250+221del Single submitter
- c.737+333G>A Single submitter
- c.738-235del Single submitter
- c.738-40dup Single submitter
- c.-62C>T Single submitter Left-right axis malformations
- c.*571C>T Single submitter Left-right axis malformations
Benign/Likely benign 10
- p.Ala20= Multiple submitters Left-right axis malformations
- p.Arg72Cys Multiple submitters Left-right axis malformations ⚠
- p.Asn110= Multiple submitters Left-right axis malformations
- p.Asn345= Multiple submitters Left-right axis malformations
- p.Gln142Arg Multiple submitters Left-right axis malformations
- p.Leu359= Multiple submitters Left-right axis malformations
- p.Pro108= Multiple submitters Left-right axis malformations
- p.Pro286Leu Multiple submitters Left-right axis malformations
- p.Pro301= Multiple submitters Left-right axis malformations
- p.Val57Met Multiple submitters Left-right axis malformations
Likely benign 61
- c.*229C>T Multiple submitters Left-right axis malformations
- c.*317C>G Multiple submitters Left-right axis malformations
- p.Ala116= Multiple submitters Left-right axis malformations
- p.Asp250Asn Multiple submitters Left-right axis malformations
- p.Pro54= Multiple submitters Left-right axis malformations
- p.Ser223= Multiple submitters Left-right axis malformations
- p.Val125= Multiple submitters Left-right axis malformations
- p.Val147= Multiple submitters
- c.251-11C>G Single submitter Left-right axis malformations
- c.251-11C>T Single submitter Left-right axis malformations
- c.497+14_497+15insGTCGCGG Single submitter Left-right axis malformations
- c.497+20G>T Single submitter
- c.498-17T>C Single submitter Left-right axis malformations
- c.498-19C>G Single submitter Left-right axis malformations
- c.738-13C>T Single submitter Left-right axis malformations
- c.738-18C>T Single submitter Left-right axis malformations
- c.*2C>T Single submitter
- c.*496T>G Single submitter Left-right axis malformations
- p.Ala20Val Single submitter
- p.Ala212= Single submitter Left-right axis malformations
- p.Ala358= Single submitter Left-right axis malformations
- p.Ala46= Single submitter Left-right axis malformations
- p.Ala86= Single submitter
- p.Ala91= Single submitter
- p.Arg135= Single submitter Left-right axis malformations
- p.Arg135Gln Single submitter
- p.Arg151= Single submitter Left-right axis malformations
- p.Arg265= Single submitter
- p.Arg337= Single submitter Left-right axis malformations
- p.Arg77= Single submitter
- p.Gly102Ser Single submitter
- p.Gly249= Single submitter Left-right axis malformations
- p.Gly295= Single submitter Left-right axis malformations
- p.Gly357= Single submitter Left-right axis malformations
- p.His171= Single submitter Left-right axis malformations
- p.His207= Single submitter Left-right axis malformations
- p.His56= Single submitter Left-right axis malformations
- p.Leu162= Single submitter Left-right axis malformations
- p.Leu208= Single submitter Left-right axis malformations
- p.Leu211= Single submitter Left-right axis malformations
- p.Leu27= Single submitter Left-right axis malformations
- p.Lys276= Single submitter Left-right axis malformations
- p.Phe101= Single submitter Left-right axis malformations
- p.Pro124= Single submitter Left-right axis malformations
- p.Pro18= Single submitter Left-right axis malformations
- p.Pro210= Single submitter Left-right axis malformations
- p.Pro253= Single submitter
- p.Pro286= Single submitter Left-right axis malformations
- p.Pro366= Single submitter Left-right axis malformations
- p.Ser213= Single submitter Left-right axis malformations
- p.Ser30= Single submitter Left-right axis malformations
- p.Ser319= Single submitter Left-right axis malformations
- p.Ser323= Single submitter Left-right axis malformations
- p.Ser355= Single submitter
- p.Ser38= Single submitter Left-right axis malformations
- p.Ser92= Single submitter Left-right axis malformations
- p.Thr146= Single submitter Left-right axis malformations
- p.Thr23= Single submitter Left-right axis malformations
- p.Val100= Single submitter Left-right axis malformations
- p.Asp164= No assertion criteria LEFTY2-related disorder
- p.Gly75Arg No assertion criteria
Uncertain significance 103
- p.Arg243Gly Multiple submitters Left-right axis malformations ⚠
- p.Arg265Cys Multiple submitters Left-right axis malformations ⚠
- p.Arg314Gln Multiple submitters Left-right axis malformations ⚠
- p.Arg33Trp Multiple submitters Left-right axis malformations ⚠
- p.Arg67His Multiple submitters Left-right axis malformations ⚠
- p.Arg83Gly Multiple submitters LEFTY2-related disorder ⚠
- p.Asp241Glu Multiple submitters Left-right axis malformations
- p.Asp356Asn Multiple submitters Left-right axis malformations ⚠
- p.Gln200Glu Multiple submitters Left-right axis malformations ⚠
- p.Glu254Lys Multiple submitters Left-right axis malformations ⚠
- p.Glu39Lys Multiple submitters Left-right axis malformations ⚠
- p.Leu130Arg Multiple submitters Left-right axis malformations ⚠
- p.Phe186Val Multiple submitters Left-right axis malformations ⚠
- p.Pro210Ser Multiple submitters Left-right axis malformations ⚠
- p.Pro300Ser Multiple submitters Left-right axis malformations ⚠
- p.Pro313Leu Multiple submitters Left-right axis malformations ⚠
- p.Ser191Cys Multiple submitters Left-right axis malformations ⚠
- p.Val40Leu Multiple submitters LEFTY2-related disorder ⚠
- c.737+1G>A Single submitter Left-right axis malformations
- c.-2C>T Single submitter Left-right axis malformations
- c.*150T>G Single submitter Left-right axis malformations
- c.*260C>T Single submitter Left-right axis malformations
- c.*279G>A Single submitter Left-right axis malformations
- c.*297A>T Single submitter Left-right axis malformations
- c.*36G>A Single submitter Left-right axis malformations
- c.*571C>G Single submitter Left-right axis malformations
- c.*64T>A Single submitter Left-right axis malformations
- c.*730T>C Single submitter Left-right axis malformations
- p.Ala177Val Single submitter Left-right axis malformations ⚠
- p.Ala303Val Single submitter ⚠
- p.Ala305Val Single submitter ⚠
- p.Ala318Thr Single submitter Left-right axis malformations ⚠
- p.Ala55Thr Single submitter Left-right axis malformations ⚠
- p.Ala94Thr Single submitter ⚠
- p.Arg119= Single submitter Left-right axis malformations
- p.Arg119Gln Single submitter Left-right axis malformations ⚠
- p.Arg119Trp Single submitter ⚠
- p.Arg192Trp Single submitter ⚠
- p.Arg194fs Single submitter Left-right axis malformations
- p.Arg220His Single submitter ⚠
- p.Arg262Cys Single submitter ⚠
- p.Arg33Gln Single submitter Left-right axis malformations ⚠
- p.Arg347Ser Single submitter Left-right axis malformations ⚠
- p.Arg66Leu Single submitter Left-right axis malformations ⚠
- p.Arg67Cys Single submitter Left-right axis malformations ⚠
- p.Asn307Ser Single submitter ⚠
- p.Asp155Tyr Single submitter Left-right axis malformations
- p.Asp252Asn Single submitter ⚠
- p.Asp47Asn Single submitter ⚠
- p.Asp71Asn Single submitter ⚠
- p.Cys263Tyr Single submitter Left-right axis malformations ⚠
- p.Cys264Arg Single submitter Left-right axis malformations ⚠
- p.Cys264Tyr Single submitter Left-right axis malformations ⚠
- p.Cys293Gly Single submitter Left-right axis malformations ⚠
- p.Cys293Ter Single submitter Left-right axis malformations
- p.Cys297Tyr Single submitter Left-right axis malformations ⚠
- p.Gln142Glu Single submitter Left-right axis malformations ⚠
- p.Gln26delinsArgProTer Single submitter Left-right axis malformations
- p.Gln349His Single submitter Left-right axis malformations ⚠
- p.Glu148Gly Single submitter Left-right axis malformations ⚠
- p.Glu25= Single submitter Left-right axis malformations
- p.Glu259Lys Single submitter Left-right axis malformations ⚠
- p.Glu25Lys Single submitter Left-right axis malformations ⚠
- p.Glu284Lys Single submitter Left-right axis malformations ⚠
- p.Glu332Lys Single submitter Left-right axis malformations ⚠
- p.Gly102Arg Single submitter Left-right axis malformations ⚠
- p.Gly134Arg Single submitter Left-right axis malformations ⚠
- p.Gly19Ala Single submitter ⚠
- p.Gly231Arg Single submitter ⚠
- p.Gly246Ala Single submitter Left-right axis malformations ⚠
- p.Gly333Arg Single submitter Left-right axis malformations ⚠
- p.Gly70Glu Single submitter ⚠
- p.His238Gln Single submitter ⚠
- p.Ile163Leu Single submitter ⚠
- p.Leu130Pro Single submitter Left-right axis malformations ⚠
- p.Leu162Phe Single submitter Left-right axis malformations ⚠
- p.Leu242Ser Single submitter Left-right axis malformations
- p.Leu359Phe Single submitter ⚠
- p.Leu90Pro Single submitter ⚠
- p.Lys331Glu Single submitter ⚠
- p.Met257Thr Single submitter Left-right axis malformations ⚠
- p.Met268Ile Single submitter ⚠
- p.Phe101Leu Single submitter Left-right axis malformations ⚠
- p.Pro301Leu Single submitter Left-right axis malformations ⚠
- p.Pro309Arg Single submitter ⚠
- p.Pro3Thr Single submitter ⚠
- p.Ser140Arg Single submitter ⚠
- p.Ser165Phe Single submitter Left-right axis malformations ⚠
- p.Ser191Gly Single submitter ⚠
- p.Ser30Ile Single submitter ⚠
- p.Ser323Leu Single submitter ⚠
- p.Ser329Arg Single submitter ⚠
- p.Ser342Asn Single submitter Left-right axis malformations ⚠
- p.Ser355Leu Single submitter ⚠
- p.Thr160Ser Single submitter ⚠
- p.Thr258Ile Single submitter Left-right axis malformations ⚠
- p.Thr296Ile Single submitter Left-right axis malformations ⚠
- p.Tyr61Ter Single submitter Left-right axis malformations
- p.Val340Met Single submitter
- p.Val360Met Single submitter Left-right axis malformations ⚠
- p.Val42Ile Single submitter Left-right axis malformations ⚠
- p.Val52Leu Single submitter ⚠
- p.Arg314Ter No assertion criteria Left-right axis malformations