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Items: 38

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TERT
Deletion
(3 prime UTR variant +1 more)
Interstitial lung disease 2
GPathogenic
TERT
(T1110M +1 more)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+8 more
GUncertain significance
TERT
(V1090M +1 more)
Single nucleotide variant
(missense variant +1 more)
Aplastic anemia
+7 more
GUncertain significance
TERT
(A1062T +1 more)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
+8 more
GConflicting classifications of pathogenicity
TERT
(C1015R +1 more)
Single nucleotide variant
(missense variant +1 more)
Aplastic anemia
Gnot provided
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+8 more
GBenign
TERT
(R979W +1 more)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GUncertain significance
TERT
(K902N)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
GPathogenic
TERT
(R901W)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
TERT
(H876Q)
Single nucleotide variant
(missense variant +1 more)
Aplastic anemia
Gnot provided
TERT
(R865H)
Single nucleotide variant
(missense variant +1 more)
Idiopathic Pulmonary Fibrosis
+3 more
GPathogenic/Likely pathogenic
TERT
Single nucleotide variant
(splice acceptor variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
+1 more
GPathogenic
TERT
(Y846C)
Single nucleotide variant
(missense variant +1 more)
Aplastic anemia
Gnot provided
TERT
(R811C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TERT
(Y772C)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
GPathogenic
TERT
(V747fs)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
TERT
Single nucleotide variant
(synonymous variant +1 more)
TERT-related condition
+4 more
GLikely benign
TERT
(T726M)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+5 more
GConflicting classifications of pathogenicity
TERT
(P721R)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 1
Gnot provided
TERT
(A716V)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+4 more
GPathogenic/Likely pathogenic
TERT
(P704S)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+4 more
GPathogenic/Likely pathogenic
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+8 more
GBenign
TERT
(V694M)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
TERT
(G682D)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 1
Gnot provided
TERT
(G677C)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 1
Gnot provided
TERT
(R631Q)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic
TERT
(K570N)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 1
GPathogenic
TERT
(R486C)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+4 more
GConflicting classifications of pathogenicity
TERT
(Q460del)
Deletion
(inframe_deletion +1 more)
Dyskeratosis congenita, autosomal dominant 1
Gnot provided
TERT
(H412Y)
Single nucleotide variant
(missense variant +1 more)
Idiopathic Pulmonary Fibrosis
+9 more
GConflicting classifications of pathogenicity
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+11 more
GBenign
TERT
(A279T)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+7 more
GBenign
TERT
(A202T)
Single nucleotide variant
(missense variant +1 more)
Idiopathic Pulmonary Fibrosis
+8 more
GConflicting classifications of pathogenicity
TERT
(V144M)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+2 more
GConflicting classifications of pathogenicity
LOC110806263, TERT
Single nucleotide variant
(splice donor variant)
Idiopathic Pulmonary Fibrosis
+1 more
GLikely pathogenic
LOC110806263, TERT
(L55Q)
Single nucleotide variant
(missense variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
GPathogenic
LOC110806263, TERT
(L38fs)
Deletion
(frameshift variant +1 more)
Interstitial lung disease 2
Gnot provided
LOC110806263, TERT
(P33S)
Single nucleotide variant
(missense variant +1 more)
Pulmonary fibrosis
GLikely risk allele
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