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Items: 1 to 100 of 548

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LEMD3
Single nucleotide variant
(5 prime UTR variant)
Dermatofibrosis lenticularis disseminata
GUncertain significance
LEMD3
(M1T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LEMD3
Microsatellite
(inframe_insertion +1 more)
not provided
GUncertain significance
LEMD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LEMD3
(A3V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LEMD3
(A4G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
(A5P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
(A5T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LEMD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LEMD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LEMD3
(A6T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
(A6V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
(S7L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
(A8T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
(P9L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
(Q10*)
Single nucleotide variant
(nonsense)
Dermatofibrosis lenticularis disseminata
GUncertain significance
LEMD3
(Q10P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
(Q10L)
Single nucleotide variant
(missense variant)
Dermatofibrosis lenticularis disseminata
GUncertain significance
LEMD3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
LEMD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LEMD3
(L17F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LEMD3
(F18L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
(S19F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
(R22A)
Indel
(missense variant)
not provided
GUncertain significance
LEMD3
(R23C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LEMD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LEMD3
(G29A)
Single nucleotide variant
(missense variant)
Dermatofibrosis lenticularis disseminata
+1 more
GUncertain significance
LEMD3
(V31E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
(E33D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LEMD3
(R36H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
(P37R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LEMD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LEMD3
(R47P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LEMD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LEMD3
(R55G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LEMD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LEMD3
(G57W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
(G57A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
(G58R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
(G58A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
(G58D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
(R59H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
(G60S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
(G60V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LEMD3
(S66N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LEMD3
(N70del)
Deletion
(inframe_deletion)
not provided
GUncertain significance
LEMD3
(N68S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
(N69D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LEMD3
(N69S)
Single nucleotide variant
(missense variant)
LEMD3-related disorder
+1 more
GUncertain significance
LEMD3
Duplication
(inframe_insertion)
not provided
GUncertain significance
LEMD3
(T71M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LEMD3
(A74T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
(T75P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LEMD3
(V76I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
(A77T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
(A77V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
Deletion
(inframe_deletion)
Dermatofibrosis lenticularis disseminata
+2 more
GLikely benign
LEMD3
(A78D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LEMD3
(G80R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
(G80A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
(G80E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
Duplication
(inframe_insertion)
not provided
GUncertain significance
LEMD3
(P81A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LEMD3
(P81L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
Microsatellite
(inframe_insertion)
not provided
GUncertain significance
LEMD3
(A85P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
(A87T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LEMD3
(G88V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
(G88E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
(M89T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
(G90R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LEMD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LEMD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LEMD3
Single nucleotide variant
(synonymous variant)
Dermatofibrosis lenticularis disseminata
+1 more
GConflicting classifications of pathogenicity
LEMD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LEMD3
(A179T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
(A179D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
LEMD3
(E181D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
(V182L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LEMD3
(T183S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
(S187T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
(P193T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
(A199fs)
Duplication
(frameshift variant)
not provided
GPathogenic
LEMD3
(R201T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
(R201K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LEMD3
(G204V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEMD3
(P205L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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