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Items: 1 to 100 of 1078

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACD
Single nucleotide variant
(3 prime UTR variant)
not specified
+1 more
GBenign
ACD
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
ACD
(M455T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACD
(M455K +2 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
(M455V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
ACD
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
ACD
(P454L +1 more)
Indel
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
ACD
(P457R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACD
(P454L +1 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
+2 more
GUncertain significance
ACD
(P454T +2 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
(P428A +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ACD
(T427I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACD
(P452fs +1 more)
Deletion
(frameshift variant)
Inborn genetic diseases
+1 more
GUncertain significance
ACD
(P455S +2 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
(E425V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACD
Single nucleotide variant
(synonymous variant)
Dyskeratosis congenita, autosomal dominant 6
GLikely benign
ACD
(S450A +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACD
Single nucleotide variant
(synonymous variant)
Dyskeratosis congenita, autosomal dominant 6
+1 more
GLikely benign
ACD
(G452E +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
ACD
(G449V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACD
(G423R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACD
(P422S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACD
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
ACD
(A446V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACD
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
ACD
(D419A +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACD
(D419N +2 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
+1 more
GUncertain significance
ACD
(M444T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACD
(M444L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACD
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
ACD
(F442S +1 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
(F445L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ACD
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
ACD
(H415R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACD
(H415P +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACD
(H415N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACD
(H444Y +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACD
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
ACD
Single nucleotide variant
(synonymous variant)
Dyskeratosis congenita, autosomal dominant 6
+1 more
GLikely benign
ACD
(A437V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACD
(A411T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACD
(M436T +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ACD
(M439V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
ACD
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
ACD
(L409H +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACD
(Q408R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACD
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
ACD
(P407L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACD
(P436S +1 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
(R430S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACD
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ACD
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 6
GLikely benign
ACD
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 6
GLikely benign
ACD
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 6
GLikely benign
ACD
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
Single nucleotide variant
(intron variant)
not specified
GLikely benign
ACD
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 6
+2 more
GBenign
ACD
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 6
GLikely benign
ACD
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 6
GLikely benign
ACD
Single nucleotide variant
(splice donor variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
(R404W +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACD
Single nucleotide variant
(synonymous variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
(V429A +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
ACD
(V403F +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACD
Single nucleotide variant
(synonymous variant)
Dyskeratosis congenita, autosomal dominant 6
GLikely benign
ACD
(A431V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACD
(Q430R +2 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
ACD
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
ACD
(R425Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ACD
(R399G +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACD
(R425W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ACD
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
ACD
(A424V +2 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
+1 more
GUncertain significance
ACD
(C397S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACD
(C397Y +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACD
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
ACD
(L396F +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACD
(L396V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACD
(S395F +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACD
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
ACD
(T420M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
ACD
(C419W +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACD
(C422R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACD
(P392H +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACD
(P421R +1 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
(P418L +1 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
ACD
(P391L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACD
(P391R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ACD
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
ACD
(Y389C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACD
(Y415N +1 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
(Y416C +1 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
+1 more
GUncertain significance
ACD
(Y387H +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACD
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
ACD
(A413V +1 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
(A413T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACD
(A410S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
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