LMX1B — 715 ClinVar variants
All ClinVar germline LMX1B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 173 flagged for review →
103 Pathogenic · 10 Pathogenic/Likely pathogenic · 40 Likely pathogenic · 26 Conflicting · 82 Benign · 18 Benign/Likely benign · 158 Likely benign · 278 Uncertain significance
Full LMX1B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 173
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 14
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
LMX1B p.Ala401Thr
Conflicting
Single submitter
nail-patella syndrome
-
LMX1B p.Arg151Cys
Conflicting
Single submitter
nail-patella syndrome
-
LMX1B p.Arg292Trp
Conflicting
Single submitter
Inborn genetic diseases
-
LMX1B p.Cys118Tyr
Conflicting
Single submitter
nail-patella syndrome
-
LMX1B p.Cys146Tyr
Conflicting
Single submitter
nail-patella syndrome
-
LMX1B p.Cys83Arg
Conflicting
Single submitter
LMX1B-related disorder
-
LMX1B p.Gln324His
Conflicting
Single submitter
nail-patella syndrome
-
LMX1B p.Glu170Lys
Conflicting
Single submitter
Inborn genetic diseases
-
LMX1B p.Met305Ile
Conflicting
Single submitter
nail-patella syndrome
-
LMX1B p.Thr310Met
Conflicting
Single submitter
Inborn genetic diseases
- LMX1B p.Trp76Gly Conflicting Single submitter
-
LMX1B p.Val179Met
Conflicting
Single submitter
nail-patella-like renal disease
-
LMX1B p.Val320Met
Conflicting
Single submitter
nail-patella-like renal disease
-
LMX1B p.Val385Met
Conflicting
Single submitter
focal segmental glomerulosclerosis
Predictors lean, ClinVar uncertain 126
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
LMX1B p.Ala54Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LMX1B p.Arg12Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LMX1B p.Arg292Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LMX1B p.Arg301Cys
Uncertain significance
Multiple submitters
kidney disorder
-
LMX1B p.Arg301His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LMX1B p.Arg384His
Uncertain significance
Multiple submitters
nail-patella syndrome
-
LMX1B p.Asp174Asn
Uncertain significance
Multiple submitters
nail-patella syndrome
- LMX1B p.Asp182Asn Uncertain significance Multiple submitters
-
LMX1B p.Asp20Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LMX1B p.Asp65Tyr
Uncertain significance
Multiple submitters
nail-patella-like renal disease
-
LMX1B p.Cys165Phe
Uncertain significance
Multiple submitters
nail-patella syndrome
-
LMX1B p.Glu155Lys
Uncertain significance
Multiple submitters
nail-patella syndrome
-
LMX1B p.Glu73Gln
Uncertain significance
Multiple submitters
nail-patella syndrome
-
LMX1B p.Glu79Asp
Uncertain significance
Multiple submitters
nail-patella syndrome
-
LMX1B p.Glu8Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LMX1B p.Gly328Ser
Uncertain significance
Multiple submitters
LMX1B-related disorder
- LMX1B p.Gly374Ser Uncertain significance Multiple submitters
-
LMX1B p.Lys104Arg
Uncertain significance
Multiple submitters
nail-patella syndrome
-
LMX1B p.Pro39Leu
Uncertain significance
Multiple submitters
nail-patella syndrome
-
LMX1B p.Pro39Ser
Uncertain significance
Multiple submitters
nail-patella syndrome
-
LMX1B p.Pro62Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LMX1B p.Ser204Asn
Uncertain significance
Multiple submitters
nail-patella-like renal disease
-
LMX1B p.Ser242Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LMX1B p.Ser300Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LMX1B p.Ser367Asn
Uncertain significance
Multiple submitters
nail-patella syndrome
-
LMX1B p.Ser75Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LMX1B p.Val135Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LMX1B p.Val157Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LMX1B p.Val187Met
Uncertain significance
Multiple submitters
nail-patella syndrome
-
LMX1B p.Val378Met
Uncertain significance
Multiple submitters
nail-patella syndrome
-
LMX1B p.Val44Met
Uncertain significance
Multiple submitters
nail-patella syndrome
- LMX1B p.Ala112Thr Uncertain significance Single submitter
- LMX1B p.Ala112Val Uncertain significance Single submitter
-
LMX1B p.Ala123Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
LMX1B p.Ala199Asp
Uncertain significance
Single submitter
nail-patella-like renal disease
- LMX1B p.Ala22Thr Uncertain significance Single submitter
-
LMX1B p.Ala233Val
Uncertain significance
Single submitter
nail-patella-like renal disease
-
LMX1B p.Ala321Val
Uncertain significance
Single submitter
nail-patella syndrome
-
LMX1B p.Ala84Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- LMX1B p.Ala84Val Uncertain significance Single submitter
- LMX1B p.Ala85Ser Uncertain significance Single submitter
-
LMX1B p.Ala85Thr
Uncertain significance
Single submitter
nail-patella syndrome
-
LMX1B p.Ala89Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
LMX1B p.Arg130Gln
Uncertain significance
Single submitter
nail-patella-like renal disease
- LMX1B p.Arg130Trp Uncertain significance Single submitter
- LMX1B p.Arg148Gln Uncertain significance Single submitter
- LMX1B p.Arg148Trp Uncertain significance Single submitter
-
LMX1B p.Arg221Gln
Uncertain significance
Single submitter
nail-patella-like renal disease
-
LMX1B p.Arg231Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- LMX1B p.Arg249Leu Uncertain significance Single submitter
- LMX1B p.Arg261Gly Uncertain significance Single submitter
- LMX1B p.Arg279Gly Uncertain significance Single submitter
- LMX1B p.Arg61Pro Uncertain significance Single submitter
- LMX1B p.Arg70Gln Uncertain significance Single submitter
-
LMX1B p.Asp182Glu
Uncertain significance
Single submitter
nail-patella-like renal disease
- LMX1B p.Asp353Asn Uncertain significance Single submitter
- LMX1B p.Cys103Phe Uncertain significance Single submitter
- LMX1B p.Cys115Tyr Uncertain significance Single submitter
-
LMX1B p.Cys13Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- LMX1B p.Cys140Ser Uncertain significance Single submitter
- LMX1B p.Cys146Arg Uncertain significance Single submitter
- LMX1B p.Cys50Ser Uncertain significance Single submitter
-
LMX1B p.Cys50Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- LMX1B p.Cys56Tyr Uncertain significance Single submitter
- LMX1B p.Cys80Arg Uncertain significance Single submitter
- LMX1B p.Cys80Tyr Uncertain significance Single submitter
- LMX1B p.Cys86Ser Uncertain significance Single submitter
-
LMX1B p.Gln264Pro
Uncertain significance
Single submitter
nail-patella-like renal disease
- LMX1B p.Gln268Pro Uncertain significance Single submitter
- LMX1B p.Gln295Lys Uncertain significance Single submitter
- LMX1B p.Gln316His Uncertain significance Single submitter
-
LMX1B p.Gln324Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- LMX1B p.Glu126Lys Uncertain significance Single submitter
-
LMX1B p.Glu155Gly
Uncertain significance
Single submitter
nail-patella-like renal disease
-
LMX1B p.Glu160Asp
Uncertain significance
Single submitter
nail-patella-like renal disease
- LMX1B p.Glu183Lys Uncertain significance Single submitter
-
LMX1B p.Glu239Lys
Uncertain significance
Single submitter
nail-patella syndrome
- LMX1B p.Glu296Asp Uncertain significance Single submitter
- LMX1B p.Gly167Val Uncertain significance Single submitter
- LMX1B p.Gly203Asp Uncertain significance Single submitter
- LMX1B p.Gly257Val Uncertain significance Single submitter
-
LMX1B p.Gly47Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- LMX1B p.His137Arg Uncertain significance Single submitter
- LMX1B p.His77Gln Uncertain significance Single submitter
- LMX1B p.Ile225Ser Uncertain significance Single submitter
- LMX1B p.Ile28Val Uncertain significance Single submitter
- LMX1B p.Leu150Val Uncertain significance Single submitter
- LMX1B p.Leu226Phe Uncertain significance Single submitter
- LMX1B p.Leu293Arg Uncertain significance Single submitter
- LMX1B p.Lys235Asn Uncertain significance Single submitter
- LMX1B p.Met129Leu Uncertain significance Single submitter
- LMX1B p.Met196Arg Uncertain significance Single submitter
- LMX1B p.Met196Val Uncertain significance Single submitter
- LMX1B p.Met302Leu Uncertain significance Single submitter
- LMX1B p.Phe141Ser Uncertain significance Single submitter
- LMX1B p.Pro244Arg Uncertain significance Single submitter
-
LMX1B p.Pro314Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- LMX1B p.Pro314Thr Uncertain significance Single submitter
- LMX1B p.Pro326Ala Uncertain significance Single submitter
- LMX1B p.Pro37Ser Uncertain significance Single submitter
-
LMX1B p.Pro39Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- LMX1B p.Pro53Ala Uncertain significance Single submitter
-
LMX1B p.Pro62Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
LMX1B p.Pro7Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- LMX1B p.Pro7Ser Uncertain significance Single submitter
-
LMX1B p.Ser209Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- LMX1B p.Ser241Leu Uncertain significance Single submitter
- LMX1B p.Ser242Thr Uncertain significance Single submitter
- LMX1B p.Ser375Phe Uncertain significance Single submitter
- LMX1B p.Ser380Phe Uncertain significance Single submitter
- LMX1B p.Ser74Leu Uncertain significance Single submitter
- LMX1B p.Ser9Leu Uncertain significance Single submitter
-
LMX1B p.Thr125Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
LMX1B p.Thr228Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- LMX1B p.Thr228Met Uncertain significance Single submitter
- LMX1B p.Thr5Arg Uncertain significance Single submitter
- LMX1B p.Trp266Gly Uncertain significance Single submitter
- LMX1B p.Tyr107Asp Uncertain significance Single submitter
- LMX1B p.Tyr136Asn Uncertain significance Single submitter
- LMX1B p.Tyr136Cys Uncertain significance Single submitter
- LMX1B p.Tyr309Cys Uncertain significance Single submitter
- LMX1B p.Val179Ala Uncertain significance Single submitter
- LMX1B p.Val187Leu Uncertain significance Single submitter
- LMX1B p.Val263Ala Uncertain significance Single submitter
- LMX1B p.Val55Ile Uncertain significance Single submitter
-
LMX1B p.Arg279Trp
Uncertain significance
No assertion criteria
LMX1B-related disorder
Predictors split 33
The independent predictors disagree with each other — read with care.
-
LMX1B p.Arg151Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LMX1B p.Arg391Gln
Uncertain significance
Multiple submitters
nail-patella-like renal disease
-
LMX1B p.Arg391Trp
Uncertain significance
Multiple submitters
nail-patella syndrome
-
LMX1B p.Asp362Asn
Uncertain significance
Multiple submitters
nail-patella syndrome
-
LMX1B p.Asp370Asn
Uncertain significance
Multiple submitters
nail-patella syndrome
-
LMX1B p.Gly117Ser
Uncertain significance
Multiple submitters
nail-patella syndrome
-
LMX1B p.Gly213Arg
Uncertain significance
Multiple submitters
nail-patella syndrome
-
LMX1B p.Gly351Glu
Uncertain significance
Multiple submitters
nail-patella syndrome
-
LMX1B p.Leu132Pro
Uncertain significance
Multiple submitters
nail-patella syndrome
-
LMX1B p.Pro216Leu
Uncertain significance
Multiple submitters
nail-patella syndrome
-
LMX1B p.Pro339Leu
Uncertain significance
Multiple submitters
nail-patella syndrome
- LMX1B p.Ser369Arg Benign/Likely benign Multiple submitters
- LMX1B p.Ala131Val Conflicting Single submitter
-
LMX1B p.Ala254Val
Uncertain significance
Single submitter
nail-patella-like renal disease
-
LMX1B p.Ala278Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
LMX1B p.Asp360Asn
Likely benign
Single submitter
nail-patella syndrome
-
LMX1B p.Asp362Val
Uncertain significance
Single submitter
Inborn genetic diseases
- LMX1B p.Glu155Asp Uncertain significance Single submitter
- LMX1B p.Glu286Lys Uncertain significance Single submitter
-
LMX1B p.Glu32Lys
Uncertain significance
Single submitter
nail-patella syndrome
- LMX1B p.Glu78Lys Uncertain significance Single submitter
-
LMX1B p.Gly27Asp
Uncertain significance
Single submitter
nail-patella-like renal disease
- LMX1B p.Gly336Asp Uncertain significance Single submitter
- LMX1B p.Gly386Glu Uncertain significance Single submitter
- LMX1B p.Lys159Arg Uncertain significance Single submitter
-
LMX1B p.Lys29Asn
Uncertain significance
Single submitter
nail-patella-like renal disease
-
LMX1B p.Met30Arg
Uncertain significance
Single submitter
nail-patella-like renal disease
- LMX1B p.Met347Ile Likely benign Single submitter
-
LMX1B p.Pro181His
Uncertain significance
Single submitter
Inborn genetic diseases
-
LMX1B p.Pro340Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
LMX1B p.Pro62Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- LMX1B p.Ser398Cys Uncertain significance Single submitter
- LMX1B p.Thr251Ala Uncertain significance Single submitter
All LMX1B variants
Pathogenic 103
- c.741+1G>A Multiple submitters LMX1B-related disorder
- c.819+1G>A Multiple submitters nail-patella syndrome
- p.Ala236Pro Multiple submitters nail-patella syndrome
- p.Arg221Ter Multiple submitters nail-patella syndrome
- p.Arg223Gln Multiple submitters LMX1B-related disorder
- p.Arg246Gln Multiple submitters inherited focal segmental glomerulosclerosis
- p.Arg246Ter Multiple submitters LMX1B-related disorder
- p.Arg249Gln Multiple submitters nail-patella-like renal disease
- p.Arg249Ter Multiple submitters LMX1B-related disorder
- p.Arg280fs Multiple submitters
- p.Arg70fs Multiple submitters nail-patella syndrome
- p.Gln109Ter Multiple submitters nail-patella syndrome
- p.Gln82Ter Multiple submitters nail-patella syndrome
- p.Gln87Ter Multiple submitters Inborn genetic diseases
- p.Glu57Ter Multiple submitters nail-patella syndrome
- p.Lys247Ter Multiple submitters
- p.Ser242Ter Multiple submitters
- p.Tyr102fs Multiple submitters LMX1B-related disorder
- p.Tyr169Ter Multiple submitters
- c.140-1G>A Single submitter
- c.140-2A>T Single submitter
- c.326_326+1del Single submitter
- c.326+1G>A Single submitter
- c.326+1G>C Single submitter
- c.327-2A>G Single submitter
- c.741+1G>C Single submitter
- c.741+1G>T Single submitter nail-patella syndrome
- c.742-1G>A Single submitter
- c.819+2T>G Single submitter
- c.820-1G>A Single submitter
- p.Ala34fs Single submitter nail-patella syndrome
- p.Arg223fs Single submitter nail-patella syndrome
- p.Arg246Leu Single submitter
- p.Arg249Pro Single submitter nail-patella syndrome
- p.Arg70Ter Single submitter
- p.Arg97del Single submitter
- p.Asn269_Gln270del Single submitter nail-patella syndrome
- p.Asp49fs Single submitter
- p.Cys134fs Single submitter
- p.Cys140Phe Single submitter
- p.Cys143Tyr Single submitter
- p.Cys59Arg Single submitter
- p.Cys59Ter Single submitter
- p.Cys83Trp Single submitter
- p.Cys86Ter Single submitter
- p.Gln162Ter Single submitter
- p.Gln202fs Single submitter
- p.Gln264Ter Single submitter
- p.Gln268fs Single submitter
- p.Gln282Ter Single submitter
- p.Gln291Ter Single submitter
- p.Gln317Ter Single submitter nail-patella syndrome
- p.Gln318Ter Single submitter
- p.Gln60Ter Single submitter
- p.Gln82fs Single submitter
- p.Gln87fs Single submitter
- p.Gln88Ter Single submitter
- p.Glu160fs Single submitter
- p.Glu190Ter Single submitter
- p.Glu250fs Single submitter
- p.Glu250Ter Single submitter
- p.Glu73fs Single submitter
- p.Glu73Ter Single submitter
- p.Glu79Ter Single submitter
- p.Gly208fs Single submitter
- p.His137Gln Single submitter nail-patella syndrome
- p.His137Tyr Single submitter
- p.Leu164Pro Single submitter
- p.Leu81Trp Single submitter
- p.Lys100fs Single submitter
- p.Lys100Ter Single submitter
- p.Lys200fs Single submitter LMX1B-related disorder
- p.Lys214Ter Single submitter nail-patella syndrome
- p.Met119fs Single submitter
- p.Met306fs Single submitter nail-patella syndrome
- p.Phe111fs Single submitter
- p.Phe156Ter Single submitter LMX1B-related disorder
- p.Pro311fs Single submitter nail-patella syndrome
- p.Ser116fs Single submitter
- p.Ser237Pro Single submitter nail-patella syndrome
- p.Thr227fs Single submitter
- p.Thr91fs Single submitter
- p.Trp76Ter Single submitter
- p.Tyr102Ter Single submitter nail-patella syndrome
- p.Tyr107Ter Single submitter
- p.Tyr136_Cys140del Single submitter
- p.Tyr136Ter Single submitter
- p.Tyr309Ter Single submitter
- p.Tyr95_Arg97delinsTer Single submitter
- p.Tyr95Ter Single submitter
- p.Val135fs Single submitter
- p.Val265Gly Single submitter nail-patella syndrome
- p.Val265Leu Single submitter nail-patella syndrome
- p.Val265Phe Single submitter nail-patella syndrome
- p.Val44fs Single submitter
- c.140-37_140-21del No assertion criteria nail-patella syndrome
- p.Asp182fs No assertion criteria nail-patella syndrome
- p.Cys118Phe No assertion criteria nail-patella syndrome
- p.Cys59Phe No assertion criteria nail-patella syndrome
- p.Glu78Ter No assertion criteria LMX1B-related disorder
- p.Lys114Ter No assertion criteria LMX1B-related disorder
- p.Thr256fs No assertion criteria nail-patella syndrome
- p.Val262fs No assertion criteria nail-patella syndrome
Pathogenic/Likely pathogenic 10
- p.Arg223Trp Multiple submitters LMX1B-related disorder
- p.Arg231Ter Multiple submitters LMX1B-related disorder
- p.Arg261Cys Multiple submitters LMX1B-related disorder
- p.Asn269Lys Multiple submitters nail-patella syndrome
- p.Gln149Ter Multiple submitters LMX1B-related disorder
- p.His77Tyr Multiple submitters nail-patella-like renal disease
- p.Ser259fs Multiple submitters
- p.Ser74Ter Multiple submitters LMX1B-related disorder
- p.Val262Met Multiple submitters nail-patella syndrome
- p.Arg246Pro No assertion criteria nail-patella-like renal disease
Likely pathogenic 40
- p.Arg249Gly Multiple submitters nail-patella syndrome
- p.Cys86Tyr Multiple submitters LMX1B-related disorder
- c.140-3C>G Single submitter
- c.315_326+13del Single submitter LMX1B-related disorder
- c.323_326+8del Single submitter
- c.327-1G>A Single submitter LMX1B-related disorder
- c.559+2_559+10del Single submitter
- c.-226G>A Single submitter nail-patella syndrome
- p.Ala254_Glu255insTer Single submitter LMX1B-related disorder
- p.Arg231Pro Single submitter
- p.Arg261Leu Single submitter
- p.Arg271Thr Single submitter
- p.Asp106Ala Single submitter
- p.Cys103Trp Single submitter LMX1B-related disorder
- p.Cys115Arg Single submitter
- p.Cys140Tyr Single submitter
- p.Cys142Ter Single submitter LMX1B-related disorder
- p.Cys143Ser Single submitter
- p.Cys144Ter Single submitter nail-patella syndrome
- p.Cys146fs Single submitter LMX1B-related disorder
- p.Gln105Ter Single submitter
- p.Gln108fs Single submitter neurodevelopmental disorder
- p.Gln149fs Single submitter LMX1B-related disorder
- p.Gln230Lys Single submitter
- p.Gln285Ter Single submitter LMX1B-related disorder
- p.Glu183Ter Single submitter nail-patella syndrome
- p.Ile319fs Single submitter nail-patella-like renal disease
- p.Leu252Arg Single submitter nail-patella syndrome
- p.Leu252Gln Single submitter nail-patella syndrome
- p.Leu258fs Single submitter
- p.Met196fs Single submitter LMX1B-related disorder
- p.Ser241fs Single submitter nail-patella syndrome
- p.Trp266Arg Single submitter nail-patella syndrome
- p.Trp266Ser Single submitter nail-patella syndrome
- p.Tyr102Cys Single submitter nail-patella syndrome
- c.886+46_886+84del No assertion criteria nail-patella syndrome
- p.Arg223Pro No assertion criteria LMX1B-related disorder
- p.Asp65fs No assertion criteria nail-patella syndrome
- p.Gln282fs No assertion criteria LMX1B-related disorder
- p.Tyr309fs No assertion criteria nail-patella syndrome
Conflicting classifications of pathogenicity 26
- c.327-5_327-3dup Single submitter kidney disorder
- c.742-15C>G Single submitter nail-patella syndrome
- c.820-13G>A Single submitter nail-patella syndrome
- c.886+18C>T Single submitter nail-patella syndrome
- c.886+8G>A Single submitter nail-patella syndrome
- c.*950G>C Single submitter nail-patella syndrome
- p.Ala131Val Single submitter ⚠
- p.Ala401Thr Single submitter nail-patella syndrome ⚠
- p.Arg151Cys Single submitter nail-patella syndrome ⚠
- p.Arg261= Single submitter nail-patella syndrome
- p.Arg292Leu Single submitter
- p.Arg292Trp Single submitter Inborn genetic diseases ⚠
- p.Cys118Tyr Single submitter nail-patella syndrome ⚠
- p.Cys146Tyr Single submitter nail-patella syndrome ⚠
- p.Cys83Arg Single submitter LMX1B-related disorder ⚠
- p.Gln324His Single submitter nail-patella syndrome ⚠
- p.Glu170Lys Single submitter Inborn genetic diseases ⚠
- p.Met305Ile Single submitter nail-patella syndrome ⚠
- p.Thr125= Single submitter nail-patella syndrome
- p.Thr19= Single submitter nail-patella syndrome
- p.Thr310Met Single submitter Inborn genetic diseases ⚠
- p.Trp76Gly Single submitter ⚠
- p.Val179Met Single submitter nail-patella-like renal disease ⚠
- p.Val240= Single submitter nail-patella syndrome
- p.Val320Met Single submitter nail-patella-like renal disease ⚠
- p.Val385Met Single submitter focal segmental glomerulosclerosis ⚠
Benign 82
- c.1051+23G>C Multiple submitters
- c.326+7G>C Multiple submitters nail-patella-like renal disease
- c.559+20G>A Multiple submitters
- c.560-49C>T Multiple submitters
- c.887-26G>T Multiple submitters
- c.*1255A>G Multiple submitters nail-patella syndrome
- c.*1304G>A Multiple submitters nail-patella syndrome
- c.*1389T>G Multiple submitters nail-patella syndrome
- c.*1393G>T Multiple submitters nail-patella syndrome
- c.*1473G>A Multiple submitters nail-patella syndrome
- c.*1582A>G Multiple submitters nail-patella syndrome
- c.*1666C>T Multiple submitters nail-patella syndrome
- c.*1992T>C Multiple submitters nail-patella syndrome
- c.*1997G>A Multiple submitters nail-patella syndrome
- c.*2184A>G Multiple submitters nail-patella syndrome
- c.*2393T>C Multiple submitters nail-patella syndrome
- c.*2394G>C Multiple submitters nail-patella syndrome
- c.*27G>A Multiple submitters nail-patella syndrome
- c.*2984C>T Multiple submitters nail-patella syndrome
- c.*3182A>G Multiple submitters nail-patella syndrome
- c.*3342T>C Multiple submitters nail-patella syndrome
- c.*3346G>A Multiple submitters nail-patella syndrome
- c.*3716C>G Multiple submitters nail-patella syndrome
- c.*3771G>T Multiple submitters nail-patella syndrome
- c.*3833A>G Multiple submitters nail-patella syndrome
- c.*3864T>C Multiple submitters nail-patella syndrome
- c.*3865G>A Multiple submitters nail-patella syndrome
- c.*3881G>T Multiple submitters nail-patella syndrome
- c.*3957C>A Multiple submitters nail-patella syndrome
- c.*4171T>C Multiple submitters nail-patella syndrome
- c.*451C>T Multiple submitters nail-patella syndrome
- c.*515A>G Multiple submitters nail-patella syndrome
- c.*51A>G Multiple submitters nail-patella syndrome
- c.*584C>T Multiple submitters nail-patella syndrome
- c.*708G>A Multiple submitters nail-patella syndrome
- c.*748C>T Multiple submitters nail-patella syndrome
- c.*79G>A Multiple submitters nail-patella syndrome
- c.*898C>T Multiple submitters nail-patella syndrome
- c.*932G>T Multiple submitters nail-patella syndrome
- p.Glu147= Multiple submitters nail-patella syndrome
- p.Ser242= Multiple submitters nail-patella-like renal disease
- p.Ser369= Multiple submitters nail-patella syndrome
- p.Thr310= Multiple submitters nail-patella syndrome
- c.1051+19A>C Single submitter
- c.1051+27G>C Single submitter
- c.139+209C>T Single submitter
- c.139+295G>A Single submitter
- c.140-266A>G Single submitter
- c.326+178G>C Single submitter
- c.327-273G>A Single submitter
- c.327-28396A>G Single submitter
- c.327-283T>A Single submitter
- c.327-318A>G Single submitter
- c.327-338A>G Single submitter
- c.741+16G>T Single submitter
- c.741+19del Single submitter
- c.741+19dup Single submitter
- c.*1063T>A Single submitter nail-patella syndrome
- c.*1287A>T Single submitter nail-patella syndrome
- c.*1538C>G Single submitter nail-patella syndrome
- c.*155G>A Single submitter nail-patella syndrome
- c.*1574G>T Single submitter nail-patella syndrome
- c.*1604A>G Single submitter nail-patella syndrome
- c.*1644C>G Single submitter nail-patella syndrome
- c.*1673C>G Single submitter nail-patella syndrome
- c.*1703C>T Single submitter nail-patella syndrome
- c.*1716A>G Single submitter nail-patella syndrome
- c.*172C>A Single submitter nail-patella syndrome
- c.*173G>A Single submitter nail-patella syndrome
- c.*1995C>G Single submitter nail-patella syndrome
- c.*2160C>T Single submitter nail-patella syndrome
- c.*2345G>A Single submitter nail-patella syndrome
- c.*2831C>T Single submitter nail-patella syndrome
- c.*2966G>A Single submitter nail-patella syndrome
- c.*3338C>G Single submitter nail-patella syndrome
- c.*4012C>T Single submitter nail-patella syndrome
- c.*4127C>T Single submitter nail-patella syndrome
- c.*4288G>A Single submitter nail-patella syndrome
- c.*4373A>G Single submitter nail-patella syndrome
- c.*438G>C Single submitter nail-patella syndrome
- c.*884G>A Single submitter nail-patella syndrome
- p.Leu392= Single submitter
Benign/Likely benign 18
- c.139+19C>T Multiple submitters nail-patella syndrome
- c.140-4A>G Multiple submitters nail-patella syndrome
- c.327-5C>T Multiple submitters
- c.559+24del Multiple submitters
- c.560-19C>T Multiple submitters
- c.*127C>T Multiple submitters nail-patella syndrome
- c.*280G>A Multiple submitters nail-patella syndrome
- p.Arg99= Multiple submitters
- p.Asp353= Multiple submitters nail-patella syndrome
- p.Cys144= Multiple submitters nail-patella syndrome
- p.Glu190= Multiple submitters nail-patella syndrome
- p.Gly210Arg Multiple submitters nail-patella syndrome
- p.Phe127= Multiple submitters nail-patella syndrome
- p.Phe400= Multiple submitters nail-patella-like renal disease
- p.Pro216= Multiple submitters nail-patella syndrome
- p.Ser184= Multiple submitters focal segmental glomerulosclerosis
- p.Ser290= Multiple submitters nail-patella syndrome
- p.Ser369Arg Multiple submitters ⚠
Likely benign 158
- c.1051+27G>A Multiple submitters
- c.1052-19C>T Multiple submitters nail-patella syndrome
- c.327-17G>A Multiple submitters nail-patella syndrome
- c.327-4G>A Multiple submitters
- c.327-6C>T Multiple submitters nail-patella syndrome
- c.560-175T>C Multiple submitters
- c.560-28A>C Multiple submitters
- c.560-87A>G Multiple submitters
- c.741+14G>A Multiple submitters nail-patella syndrome
- c.886+28G>A Multiple submitters
- c.886+7_886+39del Multiple submitters
- c.*4568C>T Multiple submitters nail-patella syndrome
- p.Ala112= Multiple submitters
- p.Ala85= Multiple submitters
- p.Arg384= Multiple submitters nail-patella syndrome
- p.Asp182= Multiple submitters nail-patella syndrome
- p.Cys143= Multiple submitters
- p.Gln230= Multiple submitters
- p.Glu183= Multiple submitters nail-patella syndrome
- p.Gly153= Multiple submitters nail-patella syndrome
- p.Phe111= Multiple submitters nail-patella syndrome
- p.Pro222= Multiple submitters
- p.Pro7Ala Multiple submitters nail-patella syndrome
- p.Ser209= Multiple submitters
- p.Thr91= Multiple submitters
- c.1051+18del Single submitter
- c.1051+92C>A Single submitter
- c.1052-18A>G Single submitter
- c.1052-5C>T Single submitter
- c.1052-8C>T Single submitter
- c.140-12T>G Single submitter
- c.140-13C>T Single submitter
- c.140-14C>T Single submitter
- c.140-15C>A Single submitter
- c.140-5T>C Single submitter
- c.326+14G>A Single submitter
- c.326+14G>T Single submitter
- c.326+16C>T Single submitter
- c.327-13T>C Single submitter
- c.327-14T>G Single submitter
- c.327-18C>T Single submitter
- c.327-20C>T Single submitter
- c.327-4G>T Single submitter
- c.559+12C>A Single submitter
- c.559+7C>A Single submitter
- c.560-11G>T Single submitter
- c.560-20C>T Single submitter
- c.560-214G>A Single submitter
- c.741+10G>A Single submitter
- c.741+12C>A Single submitter
- c.741+12C>T Single submitter
- c.741+13C>T Single submitter
- c.741+20C>T Single submitter
- c.741+8del Single submitter
- c.741+8G>A Single submitter
- c.741+9C>T Single submitter
- c.742-14T>C Single submitter
- c.742-17C>T Single submitter
- c.742-20T>A Single submitter
- c.819+10C>T Single submitter
- c.819+11_819+30del Single submitter
- c.819+13C>T Single submitter
- c.819+14C>T Single submitter
- c.819+15C>A Single submitter
- c.819+15C>T Single submitter
- c.819+16C>T Single submitter
- c.819+17C>A Single submitter
- c.819+17C>T Single submitter
- c.819+53G>A Single submitter
- c.820-13G>T Single submitter
- c.820-14C>A Single submitter
- c.820-14C>T Single submitter
- c.820-15G>A Single submitter
- c.820-15G>T Single submitter
- c.820-18A>G Single submitter
- c.886+11del Single submitter
- c.886+13C>T Single submitter
- c.886+14G>A Single submitter
- c.886+26_886+64del Single submitter
- c.886+38G>A Single submitter
- c.887-77T>A Single submitter
- c.*13C>T Single submitter nail-patella syndrome
- c.*14G>A Single submitter
- c.*2739C>A Single submitter nail-patella syndrome
- c.*38G>A Single submitter nail-patella syndrome
- p.Ala123= Single submitter
- p.Ala22= Single submitter
- p.Ala233= Single submitter
- p.Ala278= Single submitter
- p.Ala321= Single submitter
- p.Ala401= Single submitter
- p.Ala54= Single submitter
- p.Ala89= Single submitter
- p.Arg151= Single submitter
- p.Arg249= Single submitter
- p.Arg280= Single submitter
- p.Arg391= Single submitter
- p.Arg70= Single submitter
- p.Asn269= Single submitter
- p.Asn289= Single submitter
- p.Asp154= Single submitter
- p.Asp174= Single submitter
- p.Asp195= Single submitter
- p.Asp20= Single submitter
- p.Asp360= Single submitter
- p.Asp360Asn Single submitter nail-patella syndrome ⚠
- p.Cys245= Single submitter
- p.Gln105= Single submitter
- p.Gln285= Single submitter
- p.Gln316= Single submitter
- p.Gln60= Single submitter
- p.Glu155= Single submitter
- p.Glu79= Single submitter
- p.Glu8= Single submitter
- p.Gly161= Single submitter
- p.Gly17= Single submitter
- p.His33= Single submitter
- p.His77= Single submitter
- p.Ile122= Single submitter
- p.Ile319= Single submitter
- p.Leu110= Single submitter
- p.Leu226= Single submitter
- p.Leu293= Single submitter
- p.Leu298= Single submitter
- p.Leu337= Single submitter
- p.Leu35= Single submitter
- p.Leu373= Single submitter
- p.Leu381= Single submitter
- p.Leu46= Single submitter
- p.Met347Ile Single submitter ⚠
- p.Phe14= Single submitter
- p.Phe234= Single submitter
- p.Phe238= Single submitter
- p.Phe372= Single submitter
- p.Pro124= Single submitter
- p.Pro15= Single submitter
- p.Pro181= Single submitter
- p.Pro198= Single submitter
- p.Pro311= Single submitter
- p.Pro315= Single submitter
- p.Pro339= Single submitter
- p.Pro62= Single submitter
- p.Ser116= Single submitter
- p.Ser178= Single submitter
- p.Ser241= Single submitter
- p.Ser375= Single submitter
- p.Ser64= Single submitter
- p.Ser9= Single submitter
- p.Thr228= Single submitter
- p.Thr256= Single submitter
- p.Thr338= Single submitter
- p.Thr366= Single submitter
- p.Tyr169= Single submitter
- p.Tyr327= Single submitter Inborn genetic diseases
- p.Tyr399= Single submitter
- p.Val378= Single submitter
- c.886+17G>T No assertion criteria LMX1B-related disorder
- p.Ser330= No assertion criteria LMX1B-related disorder
Uncertain significance 278
- c.139+5G>C Multiple submitters nail-patella syndrome
- c.742-7G>C Multiple submitters nail-patella syndrome
- c.*1511G>A Multiple submitters nail-patella syndrome
- c.*3404G>A Multiple submitters nail-patella syndrome
- p.Ala54Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg12Ser Multiple submitters Inborn genetic diseases ⚠
- p.Arg151Ser Multiple submitters Inborn genetic diseases ⚠
- p.Arg292Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg301Cys Multiple submitters kidney disorder ⚠
- p.Arg301His Multiple submitters Inborn genetic diseases ⚠
- p.Arg384His Multiple submitters nail-patella syndrome ⚠
- p.Arg391Gln Multiple submitters nail-patella-like renal disease ⚠
- p.Arg391Trp Multiple submitters nail-patella syndrome ⚠
- p.Asp174Asn Multiple submitters nail-patella syndrome ⚠
- p.Asp182Asn Multiple submitters ⚠
- p.Asp185Asn Multiple submitters nail-patella-like renal disease
- p.Asp20Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp362Asn Multiple submitters nail-patella syndrome ⚠
- p.Asp370Asn Multiple submitters nail-patella syndrome ⚠
- p.Asp65Tyr Multiple submitters nail-patella-like renal disease ⚠
- p.Cys165Phe Multiple submitters nail-patella syndrome ⚠
- p.Gln334His Multiple submitters nail-patella syndrome
- p.Glu155Lys Multiple submitters nail-patella syndrome ⚠
- p.Glu73Gln Multiple submitters nail-patella syndrome ⚠
- p.Glu79Asp Multiple submitters nail-patella syndrome ⚠
- p.Glu8Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly117Ser Multiple submitters nail-patella syndrome ⚠
- p.Gly213Arg Multiple submitters nail-patella syndrome ⚠
- p.Gly328Ser Multiple submitters LMX1B-related disorder ⚠
- p.Gly351Glu Multiple submitters nail-patella syndrome ⚠
- p.Gly374Ser Multiple submitters ⚠
- p.Leu132Pro Multiple submitters nail-patella syndrome ⚠
- p.Lys104Arg Multiple submitters nail-patella syndrome ⚠
- p.Pro216Leu Multiple submitters nail-patella syndrome ⚠
- p.Pro339Leu Multiple submitters nail-patella syndrome ⚠
- p.Pro39Leu Multiple submitters nail-patella syndrome ⚠
- p.Pro39Ser Multiple submitters nail-patella syndrome ⚠
- p.Pro62Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ser204Asn Multiple submitters nail-patella-like renal disease ⚠
- p.Ser242Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser300Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser354Phe Multiple submitters Inborn genetic diseases
- p.Ser367Asn Multiple submitters nail-patella syndrome ⚠
- p.Ser75Cys Multiple submitters Inborn genetic diseases ⚠
- p.Ser75Phe Multiple submitters nail-patella-like renal disease
- p.Val135Met Multiple submitters Inborn genetic diseases ⚠
- p.Val157Met Multiple submitters Inborn genetic diseases ⚠
- p.Val187Met Multiple submitters nail-patella syndrome ⚠
- p.Val378Met Multiple submitters nail-patella syndrome ⚠
- p.Val44Met Multiple submitters nail-patella syndrome ⚠
- c.1051+2T>C Single submitter nail-patella syndrome
- c.1052-17C>G Single submitter nail-patella-like renal disease
- c.1052-5C>A Single submitter nail-patella syndrome
- c.139+3G>A Single submitter
- c.326+3A>G Single submitter
- c.326+5G>A Single submitter
- c.560-9C>G Single submitter
- c.741+3G>C Single submitter
- c.741+6G>A Single submitter
- c.742-6A>T Single submitter nail-patella syndrome
- c.742-7_742-6delinsCT Single submitter
- c.820-13_820-3del Single submitter
- c.886+1G>T Single submitter
- c.886+36G>A Single submitter nail-patella syndrome
- c.886+7_886+39dup Single submitter
- c.887-7C>A Single submitter nail-patella-like renal disease
- c.-12G>T Single submitter nail-patella syndrome
- c.*105C>G Single submitter nail-patella syndrome
- c.*1164A>T Single submitter nail-patella syndrome
- c.*1189C>T Single submitter nail-patella syndrome
- c.*1266T>G Single submitter nail-patella syndrome
- c.*128G>A Single submitter nail-patella syndrome
- c.*1387TGTTT[12] Single submitter
- c.*1387TGTTT[8] Single submitter
- c.*1493C>T Single submitter nail-patella syndrome
- c.*1542A>G Single submitter nail-patella syndrome
- c.*1612C>T Single submitter nail-patella syndrome
- c.*1676G>A Single submitter nail-patella syndrome
- c.*1713C>T Single submitter nail-patella syndrome
- c.*1737T>C Single submitter nail-patella syndrome
- c.*1754C>T Single submitter nail-patella syndrome
- c.*17C>T Single submitter nail-patella syndrome
- c.*1899G>A Single submitter nail-patella syndrome
- c.*18G>A Single submitter nail-patella syndrome
- c.*1935G>A Single submitter nail-patella syndrome
- c.*2023C>T Single submitter nail-patella syndrome
- c.*2062C>A Single submitter nail-patella syndrome
- c.*232C>T Single submitter nail-patella syndrome
- c.*2344C>T Single submitter nail-patella syndrome
- c.*2511C>T Single submitter nail-patella syndrome
- c.*253C>T Single submitter nail-patella syndrome
- c.*2612T>C Single submitter nail-patella syndrome
- c.*2620G>A Single submitter nail-patella syndrome
- c.*2737C>T Single submitter nail-patella syndrome
- c.*277C>T Single submitter nail-patella syndrome
- c.*286C>T Single submitter nail-patella syndrome
- c.*3021T>G Single submitter nail-patella syndrome
- c.*3052T>C Single submitter nail-patella syndrome
- c.*3098A>G Single submitter nail-patella syndrome
- c.*317G>A Single submitter nail-patella syndrome
- c.*3196G>A Single submitter nail-patella syndrome
- c.*3235C>T Single submitter nail-patella syndrome
- c.*3274T>G Single submitter nail-patella syndrome
- c.*3335A>G Single submitter nail-patella syndrome
- c.*3346G>T Single submitter nail-patella syndrome
- c.*3379C>T Single submitter nail-patella syndrome
- c.*3385C>A Single submitter nail-patella syndrome
- c.*3403C>G Single submitter nail-patella syndrome
- c.*3464G>A Single submitter nail-patella syndrome
- c.*3522G>A Single submitter nail-patella syndrome
- c.*355G>T Single submitter nail-patella syndrome
- c.*3642G>T Single submitter nail-patella syndrome
- c.*3713G>A Single submitter nail-patella syndrome
- c.*3719G>A Single submitter nail-patella syndrome
- c.*3731G>C Single submitter nail-patella syndrome
- c.*3765A>C Single submitter nail-patella syndrome
- c.*3799G>T Single submitter nail-patella syndrome
- c.*3804C>T Single submitter nail-patella syndrome
- c.*3805G>A Single submitter nail-patella syndrome
- c.*3891G>A Single submitter nail-patella syndrome
- c.*3908T>C Single submitter nail-patella syndrome
- c.*401G>A Single submitter nail-patella syndrome
- c.*4050C>A Single submitter nail-patella syndrome
- c.*4123C>T Single submitter nail-patella syndrome
- c.*4128G>A Single submitter nail-patella syndrome
- c.*4129C>T Single submitter nail-patella syndrome
- c.*4157C>T Single submitter nail-patella syndrome
- c.*4206G>A Single submitter nail-patella syndrome
- c.*4303T>C Single submitter nail-patella syndrome
- c.*4303T>G Single submitter nail-patella syndrome
- c.*4331T>C Single submitter nail-patella syndrome
- c.*4338G>C Single submitter nail-patella syndrome
- c.*4466C>A Single submitter nail-patella syndrome
- c.*446G>T Single submitter nail-patella syndrome
- c.*4477C>T Single submitter nail-patella syndrome
- c.*44G>T Single submitter nail-patella syndrome
- c.*4568C>A Single submitter nail-patella syndrome
- c.*4570A>G Single submitter nail-patella syndrome
- c.*547C>T Single submitter nail-patella syndrome
- c.*551C>A Single submitter nail-patella syndrome
- c.*553C>T Single submitter nail-patella syndrome
- c.*574C>T Single submitter nail-patella syndrome
- c.*575G>T Single submitter nail-patella syndrome
- c.*59C>T Single submitter nail-patella syndrome
- c.*635A>G Single submitter nail-patella syndrome
- c.*681C>T Single submitter nail-patella syndrome
- c.*745G>A Single submitter nail-patella syndrome
- c.*764A>C Single submitter nail-patella syndrome
- c.*90C>T Single submitter nail-patella syndrome
- c.*999C>G Single submitter nail-patella syndrome
- p.Ala112Thr Single submitter ⚠
- p.Ala112Val Single submitter ⚠
- p.Ala123Thr Single submitter Inborn genetic diseases ⚠
- p.Ala199Asp Single submitter nail-patella-like renal disease ⚠
- p.Ala22Thr Single submitter ⚠
- p.Ala233Val Single submitter nail-patella-like renal disease ⚠
- p.Ala254Val Single submitter nail-patella-like renal disease ⚠
- p.Ala278Glu Single submitter Inborn genetic diseases ⚠
- p.Ala321Val Single submitter nail-patella syndrome ⚠
- p.Ala84Glu Single submitter Inborn genetic diseases ⚠
- p.Ala84Val Single submitter ⚠
- p.Ala85Ser Single submitter ⚠
- p.Ala85Thr Single submitter nail-patella syndrome ⚠
- p.Ala89Val Single submitter Inborn genetic diseases ⚠
- p.Arg130Gln Single submitter nail-patella-like renal disease ⚠
- p.Arg130Trp Single submitter ⚠
- p.Arg148Gln Single submitter ⚠
- p.Arg148Trp Single submitter ⚠
- p.Arg217Gln Single submitter
- p.Arg221Gln Single submitter nail-patella-like renal disease ⚠
- p.Arg231Gln Single submitter Inborn genetic diseases ⚠
- p.Arg249Leu Single submitter ⚠
- p.Arg261Gly Single submitter ⚠
- p.Arg279Gly Single submitter ⚠
- p.Arg61Pro Single submitter ⚠
- p.Arg70Gln Single submitter ⚠
- p.Asp182Glu Single submitter nail-patella-like renal disease ⚠
- p.Asp331Asn Single submitter
- p.Asp345= Single submitter
- p.Asp353Asn Single submitter ⚠
- p.Asp362Val Single submitter Inborn genetic diseases ⚠
- p.Cys103Phe Single submitter ⚠
- p.Cys115Tyr Single submitter ⚠
- p.Cys13Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys140Ser Single submitter ⚠
- p.Cys146Arg Single submitter ⚠
- p.Cys21_Ala22insCys Single submitter
- p.Cys50Ser Single submitter ⚠
- p.Cys50Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys56Tyr Single submitter ⚠
- p.Cys80Arg Single submitter ⚠
- p.Cys80Tyr Single submitter ⚠
- p.Cys86Ser Single submitter ⚠
- p.Gln108_Gln109insHisThrThrSerCysTyrPheArgAspArgLysLeuTyrCysLysGlnAspTyrGln Single submitter
- p.Gln264Pro Single submitter nail-patella-like renal disease ⚠
- p.Gln268Pro Single submitter ⚠
- p.Gln295Lys Single submitter ⚠
- p.Gln316His Single submitter ⚠
- p.Gln324Arg Single submitter Inborn genetic diseases ⚠
- p.Glu126Lys Single submitter ⚠
- p.Glu155Asp Single submitter ⚠
- p.Glu155Gly Single submitter nail-patella-like renal disease ⚠
- p.Glu160Asp Single submitter nail-patella-like renal disease ⚠
- p.Glu183Lys Single submitter ⚠
- p.Glu190Lys Single submitter nail-patella-like renal disease
- p.Glu239Lys Single submitter nail-patella syndrome ⚠
- p.Glu286Lys Single submitter ⚠
- p.Glu296= Single submitter
- p.Glu296Asp Single submitter ⚠
- p.Glu32Lys Single submitter nail-patella syndrome ⚠
- p.Glu78Lys Single submitter ⚠
- p.Glu79Lys Single submitter Inborn genetic diseases
- p.Gly167Val Single submitter ⚠
- p.Gly203Asp Single submitter ⚠
- p.Gly257Val Single submitter ⚠
- p.Gly27Asp Single submitter nail-patella-like renal disease ⚠
- p.Gly336Asp Single submitter ⚠
- p.Gly386Glu Single submitter ⚠
- p.Gly47Ala Single submitter Inborn genetic diseases ⚠
- p.His137Arg Single submitter ⚠
- p.His77Gln Single submitter ⚠
- p.Ile225Ser Single submitter ⚠
- p.Ile28Val Single submitter ⚠
- p.Leu150Val Single submitter ⚠
- p.Leu226Phe Single submitter ⚠
- p.Leu293Arg Single submitter ⚠
- p.Lys159Arg Single submitter ⚠
- p.Lys235Asn Single submitter ⚠
- p.Lys29Asn Single submitter nail-patella-like renal disease ⚠
- p.Met129Leu Single submitter ⚠
- p.Met196Arg Single submitter ⚠
- p.Met196Val Single submitter ⚠
- p.Met302Leu Single submitter ⚠
- p.Met305Thr Single submitter
- p.Met30Arg Single submitter nail-patella-like renal disease ⚠
- p.Met342fs Single submitter
- p.Phe141Ser Single submitter ⚠
- p.Phe238del Single submitter Inborn genetic diseases
- p.Pro181His Single submitter Inborn genetic diseases ⚠
- p.Pro244Arg Single submitter ⚠
- p.Pro314Ala Single submitter Inborn genetic diseases ⚠
- p.Pro314Thr Single submitter ⚠
- p.Pro326Ala Single submitter ⚠
- p.Pro340Leu Single submitter Inborn genetic diseases ⚠
- p.Pro37Ser Single submitter ⚠
- p.Pro39Ala Single submitter Inborn genetic diseases ⚠
- p.Pro53Ala Single submitter ⚠
- p.Pro62Arg Single submitter Inborn genetic diseases ⚠
- p.Pro62Leu Single submitter Inborn genetic diseases ⚠
- p.Pro7Arg Single submitter Inborn genetic diseases ⚠
- p.Pro7Ser Single submitter ⚠
- p.Ser180Asn Single submitter Inborn genetic diseases
- p.Ser186= Single submitter
- p.Ser209Arg Single submitter
- p.Ser209Asn Single submitter Inborn genetic diseases ⚠
- p.Ser237del Single submitter
- p.Ser241Leu Single submitter ⚠
- p.Ser242Thr Single submitter ⚠
- p.Ser375Phe Single submitter ⚠
- p.Ser380Phe Single submitter ⚠
- p.Ser398Cys Single submitter ⚠
- p.Ser74Leu Single submitter ⚠
- p.Ser9Leu Single submitter ⚠
- p.Thr125Ala Single submitter Inborn genetic diseases ⚠
- p.Thr228Lys Single submitter Inborn genetic diseases ⚠
- p.Thr228Met Single submitter ⚠
- p.Thr251Ala Single submitter ⚠
- p.Thr5Arg Single submitter ⚠
- p.Trp266Gly Single submitter ⚠
- p.Tyr107Asp Single submitter ⚠
- p.Tyr136Asn Single submitter ⚠
- p.Tyr136Cys Single submitter ⚠
- p.Tyr309Cys Single submitter ⚠
- p.Val179Ala Single submitter ⚠
- p.Val187Leu Single submitter ⚠
- p.Val263Ala Single submitter ⚠
- p.Val55Ile Single submitter ⚠
- p.Arg279Trp No assertion criteria LMX1B-related disorder ⚠