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Links from MedGen

Items: 1 to 100 of 3694

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NHP2, RMND5B
(S86R +2 more)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TINF2
(M142L +1 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita
GUncertain significance
TINF2
Deletion
(3 prime UTR variant +1 more)
Dyskeratosis congenita
GLikely benign
CTC1
(I43T)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
DKC1
Deletion
(intron variant)
Dyskeratosis congenita
GLikely benign
DKC1
Single nucleotide variant
(intron variant)
Dyskeratosis congenita
GLikely benign
NHP2
Single nucleotide variant
(intron variant)
Dyskeratosis congenita
GLikely benign
NHP2
(A54T)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita
GUncertain significance
DKC1
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
DKC1
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
CTC1
(C400R)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
CTC1
(S208N)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TINF2
(R338fs +1 more)
Duplication
(frameshift variant)
Dyskeratosis congenita
GUncertain significance
CTC1
Single nucleotide variant
(intron variant)
Dyskeratosis congenita
GLikely benign
CTC1
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
DKC1
Single nucleotide variant
(intron variant)
Dyskeratosis congenita
GLikely benign
NHP2
Single nucleotide variant
(intron variant)
Dyskeratosis congenita
GUncertain significance
CTC1
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
TINF2
(D68H +1 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita
GUncertain significance
CTC1
(V49fs)
Deletion
(frameshift variant +1 more)
Dyskeratosis congenita
GPathogenic
TINF2
(A323V +1 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita
GUncertain significance
CTC1
(I23F)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TINF2
Single nucleotide variant
(intron variant)
Dyskeratosis congenita
GLikely benign
CTC1
(Q316*)
Single nucleotide variant
(nonsense +1 more)
Dyskeratosis congenita
GPathogenic
TINF2
(K417T +1 more)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
DKC1
Single nucleotide variant
(intron variant)
Dyskeratosis congenita
GLikely benign
CTC1
(I1005F)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
CTC1
(V1134A +1 more)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
CTC1
(W50F)
Indel
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TINF2
Single nucleotide variant
(synonymous variant)
Dyskeratosis congenita
GLikely benign
CTC1
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
DKC1
Single nucleotide variant
(intron variant)
Dyskeratosis congenita
GLikely benign
NHP2
Single nucleotide variant
(synonymous variant)
Dyskeratosis congenita
GLikely benign
DKC1
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita
GLikely benign
CTC1
(L597fs)
Microsatellite
(frameshift variant +1 more)
Dyskeratosis congenita
GPathogenic
DKC1
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
DKC1
Single nucleotide variant
(intron variant)
Dyskeratosis congenita
GLikely benign
DKC1
Single nucleotide variant
(intron variant)
Dyskeratosis congenita
GLikely benign
NHP2
(I88V)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
DKC1
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
DKC1
Single nucleotide variant
(intron variant)
Dyskeratosis congenita
GLikely benign
TINF2
(P344R +1 more)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
CTC1
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
CTC1
Single nucleotide variant
(intron variant)
Dyskeratosis congenita
GLikely benign
TINF2
(E167Q +1 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita
GUncertain significance
TINF2
Single nucleotide variant
(synonymous variant)
Dyskeratosis congenita
GLikely benign
NHP2
Single nucleotide variant
(intron variant)
Dyskeratosis congenita
GLikely benign
DKC1
Single nucleotide variant
(intron variant)
Dyskeratosis congenita
GLikely benign
DKC1
Deletion
(intron variant)
Dyskeratosis congenita
GLikely benign
CTC1
(C424G)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
CTC1
(R775fs)
Deletion
(frameshift variant +1 more)
Dyskeratosis congenita
GPathogenic
DKC1
Single nucleotide variant
(intron variant)
Dyskeratosis congenita
GLikely benign
CTC1
(V652L)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
DKC1
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
TINF2
(P430L +1 more)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
CTC1
(I648L)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
CTC1
(K242fs)
Deletion
(frameshift variant)
Dyskeratosis congenita
GPathogenic
CTC1
Single nucleotide variant
(intron variant)
Dyskeratosis congenita
GLikely benign
DKC1
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
DKC1
Microsatellite
(intron variant)
Dyskeratosis congenita
GLikely benign
CTC1
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
NHP2
Single nucleotide variant
(intron variant)
Dyskeratosis congenita
GUncertain significance
CTC1
(S234R)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita
GUncertain significance
CTC1, PFAS
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
CTC1
(H494Y)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
CTC1
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
CTC1
Single nucleotide variant
(intron variant +1 more)
Dyskeratosis congenita
GLikely pathogenic
DKC1
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GBenign
DKC1
Single nucleotide variant
(synonymous variant +2 more)
Dyskeratosis congenita
GLikely benign
CTC1
Single nucleotide variant
(intron variant)
Dyskeratosis congenita
GLikely benign
DKC1
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
DKC1
(I30V)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
DKC1
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
CTC1
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
TINF2
Single nucleotide variant
(intron variant)
Dyskeratosis congenita
GLikely benign
DKC1
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
TINF2
(L80P)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TINF2
(V6L)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita
GUncertain significance
TINF2
Single nucleotide variant
(synonymous variant)
Dyskeratosis congenita
GLikely benign
DKC1
(V432L +1 more)
Single nucleotide variant
(missense variant +2 more)
Dyskeratosis congenita
GLikely benign
CTC1, PFAS
(M1L)
Single nucleotide variant
(missense variant +2 more)
Dyskeratosis congenita
GPathogenic
NHP2
(Y107N)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
CTC1
(S583fs)
Deletion
(frameshift variant +1 more)
Dyskeratosis congenita
GPathogenic
CTC1
(N138D)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
NHP2
Single nucleotide variant
(intron variant)
Dyskeratosis congenita
GLikely benign
TINF2
(G337E +1 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita
GUncertain significance
CTC1
(S208G)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TINF2
(I265M +1 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita
GUncertain significance
DKC1
(T458I +1 more)
Single nucleotide variant
(missense variant +2 more)
Dyskeratosis congenita
GUncertain significance
DKC1
Deletion
(inframe_deletion +2 more)
Dyskeratosis congenita
GUncertain significance
CTC1
(G155S)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
NHP2
(G10R)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita
GUncertain significance
TINF2
(A99P)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
NHP2, RMND5B
(Q147*)
Single nucleotide variant
(3 prime UTR variant +1 more)
Dyskeratosis congenita
GUncertain significance
CTC1
Single nucleotide variant
(intron variant)
Dyskeratosis congenita
GLikely benign
TINF2
Deletion
(3 prime UTR variant +1 more)
Dyskeratosis congenita
GLikely benign
DKC1
Single nucleotide variant
(intron variant)
Dyskeratosis congenita
GLikely benign
CTC1
(A370P)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TINF2
Single nucleotide variant
(intron variant)
Dyskeratosis congenita
GLikely benign
TINF2
(E307fs +1 more)
Deletion
(frameshift variant)
Dyskeratosis congenita
GUncertain significance
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