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Links from MedGen

Items: 1 to 100 of 2632

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TERT
(H687Y)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
TERT
(R196H)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
LOC110806263, TERT
Duplication
(intron variant)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GBenign
TERT
(G145S)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
TERT
(V658L)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
(G215R)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
(T939P)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
TERT
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
(T1113P +1 more)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
TERT
(W930*)
Single nucleotide variant
(nonsense +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GPathogenic
TERT
(G967R +1 more)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
LOC110806263, TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
(I820S)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
TERT
(Q402R)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
(R1021fs +1 more)
Deletion
(frameshift variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
TERT
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
(T1030fs +1 more)
Deletion
(frameshift variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GPathogenic
TERT
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
LOC110806263, TERT
(R37P)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
TERT
Single nucleotide variant
(splice donor variant)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely pathogenic
LOC110806263, TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
(H1013Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
TERT
(A1114T +1 more)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
TERT
(L216M)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
LOC110806263, TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
LOC110806263, TERT
(R6fs)
Deletion
(frameshift variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GPathogenic
TERT
(L161P)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
TERT
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
(A93E)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
TERT
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
(R696P)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
(S134R)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
TERT
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
(S368Y)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
Single nucleotide variant
(splice donor variant)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely pathogenic
TERT
(Q1102E +1 more)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
TERT
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
(S824C)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
TERT
(K543R)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
TERT
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
(R972G +1 more)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
TERT
(T292P)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
TERT
(A357fs)
Deletion
(frameshift variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GPathogenic
LOC110806263, TERT
(P23S)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
TERT
(P173R)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
TERT
(Q302H)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
TERT
(L1049P +1 more)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
(V324fs)
Deletion
(frameshift variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GPathogenic
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
(E200K)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
(L769H)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
TERT
(A918fs)
Deletion
(frameshift variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GPathogenic
TERT
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
(S582C)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
(S784G)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
TERT
(R908G +1 more)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
TERT
(Q794*)
Single nucleotide variant
(nonsense)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GPathogenic
TERT
(R558G)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
TERT
(A190G)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
(I1046V +1 more)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
TERT
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
LOC110806263, TERT
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
Deletion
(intron variant)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely benign
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