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Items: 1 to 100 of 187

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADD3
(S3L)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
ADD3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ADD3
(S6I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADD3
(Q7H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ADD3
(G8S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ADD3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ADD3
(V9M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ADD3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ADD3
(Y24D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADD3
(R27C)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
ADD3
(N29S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ADD3
(M41V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ADD3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ADD3
(L45I)
Single nucleotide variant
(missense variant +1 more)
Cerebral palsy, spastic quadriplegic, 3
GBenign
ADD3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ADD3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ADD3
(R57Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADD3
(Q63H)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
ADD3
(S64I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ADD3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADD3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADD3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ADD3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ADD3
(G82D +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ADD3
(P7T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADD3
(T8A +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ADD3
(A90T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADD3
(I16M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADD3
(S102P +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
ADD3
(S104L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ADD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADD3
(G105S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADD3
(L111F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADD3
Deletion
(intron variant)
not provided
GBenign
ADD3
(G114C +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ADD3
(D126G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADD3
(T127A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADD3
(L58F +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ADD3
(T137I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ADD3
(R138L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADD3
(C139Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADD3
(C139S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADD3
(K140I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADD3
(I83T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADD3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADD3
Duplication
(intron variant)
not provided
GBenign
ADD3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADD3
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
ADD3
(K167R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADD3
(Q169K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADD3
(D92Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADD3
(I94F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADD3
(G100D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADD3
(T107A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADD3
(K113T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADD3
(V198M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADD3
(S125N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADD3
(G134E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADD3
(F135V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADD3
(S136G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADD3
(I141V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADD3
(T222A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADD3
(I152L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADD3
Single nucleotide variant
(intron variant)
not provided
GBenign
ADD3
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ADD3
(V162A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADD3
(S164F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADD3
(D181V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADD3
(D259G +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ADD3
(A261S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADD3
(D186V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADD3
(P206R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADD3
(S207N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADD3
(E305G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADD3
(N312D +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ADD3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADD3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADD3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADD3
(N254S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ADD3
(H334R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADD3
(K264E +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ADD3
(A272V +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ADD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADD3
(G354R +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ADD3
(G355V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADD3
(S282A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADD3
(G367D +1 more)
Single nucleotide variant
(missense variant)
Cerebral palsy, spastic quadriplegic, 3
GPathogenic/Likely pathogenic
ADD3
(T299I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADD3
(L303S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADD3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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