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Links from MedGen

Items: 1 to 100 of 273

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LMX1B
Single nucleotide variant
(intron variant +1 more)
Nail-patella syndrome
+1 more
GUncertain significance
LMX1B
(L252Q)
Single nucleotide variant
(missense variant)
Nail-patella syndrome
GLikely pathogenic
LMX1B
(S360N +2 more)
Single nucleotide variant
(missense variant)
Nail-patella syndrome
GUncertain significance
LMX1B
(Q87*)
Single nucleotide variant
(nonsense)
Nail-patella syndrome
GPathogenic
LMX1B
(Q317* +1 more)
Single nucleotide variant
(nonsense)
Nail-patella syndrome
GPathogenic
LMX1B
Single nucleotide variant
(intron variant)
Nail-patella syndrome
GUncertain significance
LMX1B
(S241fs)
Deletion
(frameshift variant)
Nail-patella syndrome
GLikely pathogenic
LMX1B
Copy number loss
Nail-patella syndrome
GPathogenic
LMX1B
Single nucleotide variant
(intron variant)
Nail-patella syndrome
+2 more
GLikely benign
LMX1B
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
LMX1B
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
LMX1B
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
LMX1B
Single nucleotide variant
(intron variant)
Nail-patella syndrome
+2 more
GLikely benign
LMX1B
Single nucleotide variant
(synonymous variant)
Nail-patella syndrome
+2 more
GBenign/Likely benign
LMX1B
(G117S)
Single nucleotide variant
(missense variant)
Nail-patella syndrome
+2 more
GUncertain significance
LMX1B
(E79D)
Single nucleotide variant
(missense variant)
Nail-patella syndrome
+2 more
GUncertain significance
LMX1B
(V187M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LMX1B
(R70fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
LMX1B
(M305I +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LMX1B
(A394T +2 more)
Single nucleotide variant
(missense variant)
Nail-patella syndrome
+3 more
GUncertain significance
LMX1B
Deletion
(inframe_deletion)
Nail-patella syndrome
Gnot provided
LMX1B
(E170K)
Single nucleotide variant
(missense variant)
Nail-patella-like renal disease
+2 more
GUncertain significance
LMX1B
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
LMX1B
Single nucleotide variant
(synonymous variant)
Nail-patella syndrome
+2 more
GLikely benign
LMX1B
(G213R)
Single nucleotide variant
(missense variant)
Nail-patella syndrome
+1 more
GUncertain significance
LMX1B
(V331M +1 more)
Single nucleotide variant
(missense variant)
Nail-patella-like renal disease
+2 more
GUncertain significance
LMX1B
(V44M)
Single nucleotide variant
(missense variant)
Nail-patella-like renal disease
+2 more
GUncertain significance
LMX1B
(R151C)
Single nucleotide variant
(missense variant)
Nail-patella syndrome
+2 more
GUncertain significance
LMX1B
(E155K)
Single nucleotide variant
(missense variant)
Nail-patella syndrome
+3 more
GUncertain significance
LMX1B
(C118Y)
Single nucleotide variant
(missense variant)
Nail-patella syndrome
+1 more
GConflicting classifications of pathogenicity
LMX1B
(Q109*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
AK1, ANGPTL2
+27 more
Copy number loss
Developmental and epileptic encephalopathy, 4
+1 more
GPathogenic
LMX1B
(A85T)
Single nucleotide variant
(missense variant)
Nail-patella syndrome
GUncertain significance
LMX1B
(A236P)
Single nucleotide variant
(missense variant)
Nail-patella syndrome
+2 more
GPathogenic
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GUncertain significance
LMX1B
(W266S)
Single nucleotide variant
(missense variant)
Nail-patella syndrome
GLikely pathogenic
LMX1B
(P39S)
Single nucleotide variant
(missense variant)
Nail-patella syndrome
+1 more
GUncertain significance
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
+1 more
GConflicting classifications of pathogenicity
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GBenign
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LMX1B
(V179M)
Single nucleotide variant
(missense variant)
Nail-patella syndrome
+2 more
GConflicting classifications of pathogenicity
LMX1B
(D174N)
Single nucleotide variant
(missense variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GBenign
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GBenign
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(synonymous variant)
Nail-patella syndrome
+1 more
GConflicting classifications of pathogenicity
LMX1B
Single nucleotide variant
(intron variant)
Nail-patella syndrome
+2 more
GBenign/Likely benign
LMX1B
(E32K)
Single nucleotide variant
(missense variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GLikely benign
LMX1B
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
LMX1B
(D353N +2 more)
Single nucleotide variant
(missense variant)
Nail-patella syndrome
GLikely benign
LMX1B
Single nucleotide variant
(5 prime UTR variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
+1 more
GBenign
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GLikely benign
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GBenign
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(3 prime UTR variant)
Nail-patella syndrome
GUncertain significance
LMX1B
Single nucleotide variant
(synonymous variant)
Nail-patella-like renal disease
+2 more
GLikely benign
LMX1B
Single nucleotide variant
(intron variant)
Nail-patella syndrome
+1 more
GConflicting classifications of pathogenicity
LMX1B
(R249P)
Single nucleotide variant
(missense variant)
Nail-patella syndrome
GPathogenic
LMX1B
Single nucleotide variant
(splice donor variant)
Nail-patella syndrome
GPathogenic
LMX1B
Deletion
(inframe_deletion)
Nail-patella syndrome
GPathogenic
LMX1B
(V265F)
Single nucleotide variant
(missense variant)
Nail-patella syndrome
GPathogenic
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