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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC110806263, TERT
(V74E)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+2 more
GUncertain significance
LOC110806263, TERT
Single nucleotide variant
(splice donor variant)
Dyskeratosis congenita, autosomal dominant 2
GLikely pathogenic
LOC110806263, TERT
(R72C)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
+2 more
GUncertain significance
LOC110806263, TERT
(P65L)
Single nucleotide variant
(missense variant +1 more)
Idiopathic Pulmonary Fibrosis
+1 more
GUncertain significance
LOC110806263, TERT
(P65A)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
LOC110806263, TERT
(P65T)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
LOC110806263, TERT
(Q53H)
Single nucleotide variant
(missense variant +1 more)
Idiopathic Pulmonary Fibrosis
+8 more
GUncertain significance
LOC110806263, TERT
(V28L)
Single nucleotide variant
(missense variant +1 more)
Idiopathic Pulmonary Fibrosis
+2 more
GUncertain significance
LOC110806263, TERT
(P2A)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
LOC110806263, TERT
Single nucleotide variant
(5 prime UTR variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+4 more
GConflicting classifications of pathogenicity
OOncogenic
LOC110806263, TERT
Single nucleotide variant
Dyskeratosis congenita, autosomal dominant 2
+2 more
GLikely pathogenic
OOncogenic
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