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Links from MedGen

Items: 1 to 100 of 4139

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GAB3, GDI1
+40 more
Deletion
Adrenoleukodystrophy
+6 more
GPathogenic
CTC1
Deletion
Dyskeratosis congenita
GPathogenic
CTC1
Deletion
Dyskeratosis congenita
GPathogenic
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
TERT
(T117I)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
TERT
(L1052V +1 more)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
(L1044H +1 more)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
(L1044F +1 more)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
TERT
(R1034G +1 more)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
TERT
(G109E)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
(R1023L +1 more)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
TERT
(Q1013P +1 more)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
(F812L)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita
GLikely benign
TERT
(G106A)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
TERT
(A1049P +1 more)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
(S1045F +1 more)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
(L104Q)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
(I1036V +1 more)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
(L103R)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
(L103V)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
(T936N +1 more)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
TERT
(V928M +1 more)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
TERT
(R899P +1 more)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
(Q384H)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
(T937S)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
LOC110806263, TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
TERT
(M922I)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
(Q921R)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
(P383S)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
(D911E)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
(E90D)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
+1 more
GUncertain significance
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
TERT
(C896Y)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
TERT
(R889G)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
TERT
(R885G +1 more)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
(R381L)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
LOC110806263, TERT
(R83L)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
(C828S)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
(I820M)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita
GUncertain significance
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
TERT
(F812S)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita
GUncertain significance
TERT
Single nucleotide variant
(synonymous variant)
Dyskeratosis congenita
GLikely benign
TERT
Single nucleotide variant
(synonymous variant)
Dyskeratosis congenita
GLikely benign
LOC110806263, TERT
(R8L)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
(S795N)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita
GUncertain significance
TERT
Single nucleotide variant
(synonymous variant)
Dyskeratosis congenita
GLikely benign
TERT
(V790D)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita
GUncertain significance
TERT
(A778S)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita
GUncertain significance
TERT
(R774G)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita
GUncertain significance
TERT
(D768G)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita
GUncertain significance
TERT
Single nucleotide variant
(synonymous variant)
Dyskeratosis congenita
GLikely benign
TERT
(V763F)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita
GUncertain significance
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
TERT
(H752D)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
(M372I)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
TERT
(P370H)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
(G715A)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
TERT
(A689D)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
TERT
(P673S)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
(R672L)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
TERT
(R669L)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
(Y667C)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
(L654V)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
(E652G)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
(A651V)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GLikely benign
TERT
(E648Q)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
(T644A)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
(Y638H)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
(N635H)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
LOC110806263, TERT
(A62G)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
(S579N)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
LOC110806263, TERT
(V56E)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
(M549I)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
GLikely benign
TERT
(S348G)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
TERT
(E538Q)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
GUncertain significance
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