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Links from MedGen

Items: 60

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WRAP53
(W146*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
WRAP53
Deletion
(intron variant)
Dyskeratosis congenita, autosomal recessive 3
GUncertain significance
WRAP53
Deletion
(inframe_indel)
Dyskeratosis congenita, autosomal recessive 3
GUncertain significance
WRAP53
(A390T)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal recessive 3
GUncertain significance
WRAP53
(G350fs)
Deletion
(frameshift variant)
not provided
+1 more
GUncertain significance
WRAP53
(G521W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WRAP53
(G481S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WRAP53
(V508I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
WRAP53
(G543S)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal recessive 3
GUncertain significance
WRAP53
(R513G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
WRAP53
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
WRAP53
(A36T)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal recessive 3
GUncertain significance
WRAP53
Single nucleotide variant
(intron variant +1 more)
Dyskeratosis congenita, autosomal recessive 3
GUncertain significance
WRAP53
Single nucleotide variant
(intron variant +1 more)
Dyskeratosis congenita, autosomal recessive 3
GUncertain significance
WRAP53
Single nucleotide variant
(5 prime UTR variant +1 more)
Dyskeratosis congenita, autosomal recessive 3
GUncertain significance
WRAP53
Single nucleotide variant
(5 prime UTR variant +1 more)
Dyskeratosis congenita, autosomal recessive 3
GUncertain significance
WRAP53
(P423L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
WRAP53
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal recessive 3
GUncertain significance
WRAP53
(P287L)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal recessive 3
+1 more
GUncertain significance
WRAP53
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal recessive 3
+1 more
GConflicting classifications of pathogenicity
WRAP53
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal recessive 3
+1 more
GConflicting classifications of pathogenicity
WRAP53
(A522fs)
Duplication
(frameshift variant)
not provided
+2 more
GUncertain significance
WRAP53
Single nucleotide variant
(synonymous variant)
Dyskeratosis congenita, autosomal recessive 3
+2 more
GConflicting classifications of pathogenicity
WRAP53
Single nucleotide variant
(synonymous variant)
Dyskeratosis congenita
+3 more
GConflicting classifications of pathogenicity
WRAP53
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
WRAP53
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GLikely benign
WRAP53
(L373fs)
Deletion
(frameshift variant)
Dyskeratosis congenita, autosomal recessive 3
GPathogenic
WRAP53
(Q7fs)
Deletion
(frameshift variant)
not provided
+1 more
GUncertain significance
WRAP53
(I184L)
Single nucleotide variant
(missense variant)
WRAP53-related disorder
+1 more
GUncertain significance
WRAP53
Single nucleotide variant
(synonymous variant)
Dyskeratosis congenita, autosomal recessive 3
+3 more
GBenign/Likely benign
TP53, WRAP53
Single nucleotide variant
(5 prime UTR variant +1 more)
Dyskeratosis congenita, autosomal recessive 3
+1 more
GBenign/Likely benign
LOC130060173, TP53
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
Dyskeratosis congenita, autosomal recessive 3
+1 more
GBenign/Likely benign
WRAP53
(R483H)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal recessive 3
+2 more
GUncertain significance
WRAP53
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal recessive 3
GUncertain significance
WRAP53
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
WRAP53
Single nucleotide variant
(synonymous variant)
Dyskeratosis congenita, autosomal recessive 3
+1 more
GConflicting classifications of pathogenicity
WRAP53
(G326S)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal recessive 3
+1 more
GUncertain significance
WRAP53
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
WRAP53
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
WRAP53
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
WRAP53
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
WRAP53
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
WRAP53
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
WRAP53
(T132N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
WRAP53, TP53
(V63M)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
TP53, WRAP53
(P11S)
Single nucleotide variant
(missense variant)
not specified
+6 more
GBenign/Likely benign
WRAP53
Single nucleotide variant
(5 prime UTR variant +2 more)
Dyskeratosis congenita, autosomal recessive 3
GUncertain significance
WRAP53
Single nucleotide variant
(5 prime UTR variant +1 more)
Dyskeratosis congenita, autosomal recessive 3
GUncertain significance
LOC130060173, WRAP53
Single nucleotide variant
(5 prime UTR variant +1 more)
Dyskeratosis congenita, autosomal recessive 3
GUncertain significance
TP53, WRAP53
Single nucleotide variant
(synonymous variant)
Dyskeratosis congenita
+4 more
GBenign/Likely benign
TP53, WRAP53
(P136R)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal recessive 3
+4 more
GBenign/Likely benign
TP53, WRAP53
(R68G)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign
WRAP53
(A522G)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
WRAP53
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
WRAP53
Single nucleotide variant
(synonymous variant)
Dyskeratosis congenita
+3 more
GBenign
WRAP53
(A522fs)
Deletion
(frameshift variant)
not provided
+1 more
GUncertain significance
WRAP53
(F164L)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
WRAP53
(G435R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WRAP53
(H376Y)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal recessive 3
GPathogenic
WRAP53
(R398W)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
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