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Links from MedGen

Items: 68

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DKC1
(R322*)
Single nucleotide variant
(nonsense +1 more)
Dyskeratosis congenita, X-linked
GLikely pathogenic
DKC1
(I38M)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
GLikely pathogenic
DKC1
(T405I)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
GUncertain significance
DKC1
(Q414E)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
+1 more
GUncertain significance
DKC1
(I187L)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
+1 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(P237L +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita, X-linked
GPathogenic
DKC1
(P409S)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
GUncertain significance
DKC1
(E440K +1 more)
Single nucleotide variant
(missense variant +2 more)
Dyskeratosis congenita
+1 more
GUncertain significance
DKC1
(H68Q)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
GLikely pathogenic
DKC1
(K473del +1 more)
Microsatellite
(inframe_deletion +2 more)
not provided
GUncertain significance
DKC1
(K17del)
Microsatellite
(inframe_deletion +1 more)
Dyskeratosis congenita
+1 more
GUncertain significance
DKC1
(A45T)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
GLikely pathogenic
DKC1
(D399H)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
GLikely pathogenic
RTEL1-TNFRSF6B, RTEL1
Deletion
(splice donor variant)
Dyskeratosis congenita, autosomal recessive 5
+4 more
GConflicting classifications of pathogenicity
DKC1
(I163L)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
+1 more
GUncertain significance
DKC1
(H68R)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
GPathogenic
DKC1
(Y419N)
Single nucleotide variant
(missense variant +2 more)
Dyskeratosis congenita, X-linked
GLikely pathogenic
DKC1
(T352A)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
GLikely pathogenic
DKC1
(R378Q)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
+2 more
GConflicting classifications of pathogenicity
DKC1
(K505del +1 more)
Microsatellite
(inframe_deletion +2 more)
DKC1-related disorder
+3 more
GConflicting classifications of pathogenicity
DKC1
Microsatellite
(inframe_insertion +2 more)
not specified
+3 more
GBenign/Likely benign
DKC1
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+2 more
GBenign
DKC1
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
+2 more
GBenign/Likely benign
DKC1
(L72F)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
Gnot provided
DKC1
(L56S)
Indel
(missense variant +1 more)
Dyskeratosis congenita, X-linked
Gnot provided
DKC1
(R322Q)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
DKC1
(L321V)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
Gnot provided
DKC1
(L317F)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
DKC1
(L317V)
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
(Q31E)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
Gnot provided
DKC1
(S304N)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
Gnot provided
DKC1
(S280R)
Single nucleotide variant
(missense variant +1 more)
DKC1-related disorder
+3 more
GBenign/Likely benign
DKC1
(A2V)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
+1 more
GConflicting classifications of pathogenicity
DKC1
(R158W)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DKC1
(P10L)
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
(T67I)
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
(R65T)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
Gnot provided
DKC1, LOC130068886
Single nucleotide variant
DKC1-related disorder
+4 more
GConflicting classifications of pathogenicity
DKC1
(K43E)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
Gnot provided
DKC1
(P409L)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GLikely pathogenic
DKC1
(T408I)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
DKC1
(E41K)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
DKC1
(G402R)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
Gnot provided
DKC1
(L398P)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
Gnot provided
DKC1
(K39E)
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
(P384L)
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
(D359N)
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
(M350T)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
Gnot provided
DKC1
Single nucleotide variant
(synonymous variant +2 more)
Dyskeratosis congenita, X-linked
GPathogenic
DKC1
(T357A)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
DKC1
(Q31K)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
GPathogenic
DKC1
(I38T)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
GPathogenic
DKC1
(S121G)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
DKC1
(T49M)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
+1 more
GPathogenic
DKC1
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, X-linked
GPathogenic
DKC1
Deletion
Dyskeratosis congenita, X-linked
GPathogenic
DKC1
(A353V)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GPathogenic
DKC1
(G402E)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
GPathogenic
DKC1
(L72Y)
Indel
(missense variant +1 more)
Dyskeratosis congenita, X-linked
GPathogenic
DKC1
(P40R)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
GPathogenic
DKC1
(L37del)
Deletion
(inframe_deletion +1 more)
Dyskeratosis congenita
GLikely pathogenic
DKC1
(F36V)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, X-linked
GPathogenic
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