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Items: 38

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DKC1, LOC130068886
Single nucleotide variant
DKC1-related condition
+5 more
GConflicting classifications of pathogenicity
DKC1
(A2V)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
+1 more
GConflicting classifications of pathogenicity
DKC1
(P10L)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
Gnot provided
DKC1
(Q31E)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
Gnot provided
DKC1
(Q31K)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
GPathogenic
DKC1
(F36V)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
GPathogenic
DKC1
(L37del)
Deletion
(inframe_deletion +1 more)
Dyskeratosis congenita
GLikely pathogenic
DKC1
(I38T)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
GPathogenic
DKC1
(K39E)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
Gnot provided
DKC1
(P40R)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
GPathogenic
DKC1
(E41K)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
DKC1
(K43E)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
Gnot provided
DKC1
(T49M)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
+1 more
GPathogenic
DKC1
(R65T)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
Gnot provided
DKC1
(T66A)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita
+1 more
GPathogenic/Likely pathogenic
DKC1
(T67I)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
Gnot provided
DKC1
(H68Q)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
Gnot provided
DKC1
(S121G)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
DKC1
(R158W)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DKC1
(S280R)
Single nucleotide variant
(missense variant +1 more)
DKC1-related condition
+4 more
GBenign/Likely benign
DKC1
(S304N)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
Gnot provided
DKC1
(K314R)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
Gnot provided
DKC1
(L317F)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
DKC1
(L317V)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
Gnot provided
DKC1
(L321V)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
Gnot provided
DKC1
(R322Q)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
DKC1
(M350T)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
Gnot provided
DKC1
(M350I)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
Gnot provided
DKC1
(A353V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GPathogenic
DKC1
(D359N)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
Gnot provided
DKC1
(P384S)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
Gnot provided
DKC1
(P384L)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
Gnot provided
DKC1
(A386T)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
GPathogenic
DKC1
(L398P)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
Gnot provided
DKC1
(G402R)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
Gnot provided
DKC1
(G402E)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
GPathogenic
DKC1
(T408I)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
DKC1
(P409L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GLikely pathogenic
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