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Items: 1 to 100 of 287

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOXL3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOXL3
(I392M +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOXL3
(Q751K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOXL3
(P745A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOXL3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOXL3
(F380L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOXL3
(F741Y +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOXL3
(E374K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOXL3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOXL3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOXL3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOXL3
Deletion
(intron variant)
not provided
GUncertain significance
LOXL3
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
LOXL3
(I584T +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOXL3
(H580P +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOXL3
(V724M +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOXL3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOXL3
(D718N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOXL3
(K351Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOXL3
(N564S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOXL3
(T562I +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOXL3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOXL3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOXL3
(E342K +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOXL3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOXL3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOXL3
Single nucleotide variant
(intron variant)
not provided
GBenign
LOXL3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOXL3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOXL3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOXL3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LOXL3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOXL3
(V684M +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOXL3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOXL3
(T321M +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOXL3
(C676Y +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOXL3
(I313T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOXL3
(R310G +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOXL3
(Y309* +2 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
LOXL3
(D668N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOXL3
(G516A +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOXL3
(E659G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOXL3
(N511T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOXL3
(E653K +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOXL3
(R290Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOXL3
(R290W +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOXL3
(K289T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOXL3
(D502V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOXL3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOXL3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOXL3
Deletion
(intron variant)
not provided
GLikely benign
LOXL3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOXL3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOXL3
Single nucleotide variant
(intron variant)
not provided
GBenign
LOXL3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOXL3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOXL3
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
LOXL3
(Q284* +2 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
LOXL3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOXL3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOXL3
(G271S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOXL3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOXL3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOXL3
(T482S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOXL3
(G265D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOXL3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOXL3
(L261P +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOXL3
(D259G +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
LOXL3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOXL3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOXL3
(I470T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOXL3
(I615F +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
LOXL3
(D253fs +2 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
LOXL3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOXL3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOXL3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOXL3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOXL3
Deletion
(intron variant)
not provided
GLikely benign
LOXL3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOXL3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOXL3
(E244K +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOXL3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOXL3
(W458* +2 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
LOXL3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOXL3
(W601del +2 more)
Deletion
(inframe_deletion)
not provided
GUncertain significance
LOXL3
(R237H +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOXL3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOXL3
(G452R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOXL3
(P233H +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOXL3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOXL3
(R444* +2 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
LOXL3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOXL3
(L226Q +2 more)
Single nucleotide variant
(missense variant)
LOXL3-related disorder
GUncertain significance
LOXL3
(R434Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOXL3
(R431C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOXL3
(R214Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOXL3
(Y572C +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOXL3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOXL3
(R205H +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOXL3
(A204D +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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