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Links from MedGen

Items: 1 to 100 of 140

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TERT
(R889*)
Single nucleotide variant
(nonsense +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
GLikely pathogenic
TERT
(L924V +1 more)
Single nucleotide variant
(missense variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
+2 more
GUncertain significance
TERT
(E800K)
Single nucleotide variant
(missense variant)
Idiopathic Pulmonary Fibrosis
+2 more
GUncertain significance
TERT
(H534R)
Single nucleotide variant
(missense variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
GLikely pathogenic
TERT
Single nucleotide variant
(splice acceptor variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
+1 more
GPathogenic/Likely pathogenic
TERT
(F809fs)
Deletion
(frameshift variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
GLikely pathogenic
TERT
Single nucleotide variant
(splice acceptor variant)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
+2 more
GLikely pathogenic
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+6 more
GLikely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
+9 more
GLikely benign
TERT
(D718N)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
TERT
(A357G)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+9 more
GUncertain significance
LOC110806263, TERT
(G42R)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+7 more
GUncertain significance
TERT
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 2
+2 more
GBenign
TERT
(A1009V +1 more)
Single nucleotide variant
(missense variant +1 more)
Idiopathic Pulmonary Fibrosis
+2 more
GLikely pathogenic
TERT
Duplication
(intron variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+3 more
GUncertain significance
TERT
(H455L)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+2 more
GConflicting classifications of pathogenicity
TERT
(R908H +1 more)
Single nucleotide variant
(missense variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
+2 more
GConflicting classifications of pathogenicity
TERT
(D807N)
Single nucleotide variant
(missense variant)
Idiopathic Pulmonary Fibrosis
+2 more
GConflicting classifications of pathogenicity
TERT
(A880T)
Single nucleotide variant
(missense variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
+3 more
GPathogenic/Likely pathogenic
TERT
Single nucleotide variant
(synonymous variant +1 more)
Aplastic anemia
+3 more
GConflicting classifications of pathogenicity
TERT
(S255Y)
Single nucleotide variant
(missense variant +1 more)
Aplastic anemia
+9 more
GUncertain significance
TERT
(E668A)
Single nucleotide variant
(missense variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
+2 more
GUncertain significance
TERT
(R1034H +1 more)
Single nucleotide variant
(missense variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
+3 more
GUncertain significance
TERT
Single nucleotide variant
(3 prime UTR variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
+2 more
GUncertain significance
TERT
Single nucleotide variant
(3 prime UTR variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
+2 more
GUncertain significance
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
+5 more
GConflicting classifications of pathogenicity
TERT
(T292R)
Single nucleotide variant
(missense variant +1 more)
Aplastic anemia
+4 more
GUncertain significance
TERT
(H876N)
Single nucleotide variant
(missense variant +1 more)
Aplastic anemia
+3 more
GUncertain significance
TERT
Single nucleotide variant
(3 prime UTR variant +1 more)
Aplastic anemia
+2 more
GUncertain significance
TERT
Single nucleotide variant
(3 prime UTR variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
+2 more
GUncertain significance
TERT
Single nucleotide variant
(3 prime UTR variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+2 more
GUncertain significance
TERT
Single nucleotide variant
(synonymous variant +1 more)
Idiopathic Pulmonary Fibrosis
+3 more
GConflicting classifications of pathogenicity
TERT
(L103G)
Indel
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+4 more
GUncertain significance
TERT
(T283P)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
+9 more
GUncertain significance
TERT
(H303L)
Single nucleotide variant
(missense variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
+3 more
GUncertain significance
TERT
(F115L)
Single nucleotide variant
(missense variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
GLikely pathogenic
TERT
(L1049M +1 more)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+2 more
GUncertain significance
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+9 more
GLikely benign
TERT
(P1045L +1 more)
Single nucleotide variant
(missense variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
+4 more
GConflicting classifications of pathogenicity
TERT
(R774Q)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 2
+2 more
GUncertain significance
TERT
(V299M)
Single nucleotide variant
(missense variant +1 more)
Aplastic anemia
+7 more
GConflicting classifications of pathogenicity
TERT
(S335del)
Microsatellite
(inframe_deletion +1 more)
Idiopathic Pulmonary Fibrosis
+2 more
GConflicting classifications of pathogenicity
TERT
(R301H)
Single nucleotide variant
(missense variant +1 more)
Acute myeloid leukemia
+4 more
GUncertain significance
TERT
(V755I)
Single nucleotide variant
(missense variant +1 more)
Aplastic anemia
+4 more
GConflicting classifications of pathogenicity
TERT
(V435E)
Single nucleotide variant
(missense variant +1 more)
Idiopathic Pulmonary Fibrosis
+11 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(K877del +2 more)
Microsatellite
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
+2 more
GUncertain significance
LOC110806263, TERT
Single nucleotide variant
(synonymous variant +1 more)
Idiopathic Pulmonary Fibrosis
+5 more
GConflicting classifications of pathogenicity
TERT
Single nucleotide variant
(synonymous variant +1 more)
Idiopathic Pulmonary Fibrosis
+5 more
GConflicting classifications of pathogenicity
TERT
(A288V)
Single nucleotide variant
(missense variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
+11 more
GConflicting classifications of pathogenicity
TERT
(E652K)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 1
+10 more
GConflicting classifications of pathogenicity
TERT
(V465L)
Single nucleotide variant
(missense variant +1 more)
not provided
+9 more
GConflicting classifications of pathogenicity
TERT
(C935fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
TERT
(P323R)
Single nucleotide variant
(missense variant +1 more)
Idiopathic Pulmonary Fibrosis
+6 more
GUncertain significance
TERT
Single nucleotide variant
(synonymous variant +1 more)
not specified
+7 more
GConflicting classifications of pathogenicity
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
+5 more
GConflicting classifications of pathogenicity
TERT
(V741M)
Single nucleotide variant
(missense variant +1 more)
not provided
+7 more
GUncertain significance
TERT
Single nucleotide variant
(synonymous variant +1 more)
Idiopathic Pulmonary Fibrosis
+10 more
GLikely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
Idiopathic Pulmonary Fibrosis
+5 more
GConflicting classifications of pathogenicity
TERT
Single nucleotide variant
(synonymous variant +1 more)
Idiopathic Pulmonary Fibrosis
+7 more
GConflicting classifications of pathogenicity
TERT
Single nucleotide variant
(stop lost +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
GLikely pathogenic
TERT
Single nucleotide variant
(intron variant)
Aplastic anemia
+10 more
GConflicting classifications of pathogenicity
TERT
(D684G)
Single nucleotide variant
(missense variant +1 more)
Interstitial lung disease 2
+3 more
GConflicting classifications of pathogenicity
TERT
(R194*)
Indel
(nonsense +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
GPathogenic
TERT
(R691H)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+3 more
GUncertain significance
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+9 more
GLikely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+11 more
GLikely benign
TERT
Single nucleotide variant
(intron variant)
not specified
+8 more
GConflicting classifications of pathogenicity
TERT
Single nucleotide variant
(synonymous variant +1 more)
not provided
+10 more
GLikely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
not specified
+8 more
GConflicting classifications of pathogenicity
TERT
(T714M)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
LOC110806263, TERT
(Q53H)
Single nucleotide variant
(missense variant +1 more)
not provided
+8 more
GUncertain significance
TERT
(P370S)
Single nucleotide variant
(missense variant +1 more)
Idiopathic Pulmonary Fibrosis
+9 more
GUncertain significance
TERT
(R521L)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+2 more
GUncertain significance
TERT
(T644M)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+13 more
GConflicting classifications of pathogenicity
TERT
(E113fs)
Duplication
(frameshift variant +1 more)
Dyskeratosis congenita, autosomal dominant 1
+7 more
GPathogenic/Likely pathogenic
LOC110806263, TERT
Single nucleotide variant
(intron variant)
Aplastic anemia
+7 more
GConflicting classifications of pathogenicity
TERT
(S191T)
Single nucleotide variant
(missense variant +1 more)
Acute myeloid leukemia
+9 more
GConflicting classifications of pathogenicity
TERT
Single nucleotide variant
(synonymous variant +1 more)
Aplastic anemia
+5 more
GConflicting classifications of pathogenicity
TERT
(H294Y)
Single nucleotide variant
(missense variant +1 more)
Aplastic anemia
+3 more
GUncertain significance
TERT
Single nucleotide variant
(intron variant)
Aplastic anemia
+10 more
GBenign/Likely benign
TERT
Single nucleotide variant
(synonymous variant)
Aplastic anemia
+7 more
GConflicting classifications of pathogenicity
TERT
Single nucleotide variant
(intron variant)
Aplastic anemia
+5 more
GBenign/Likely benign
TERT
Single nucleotide variant
(intron variant)
Aplastic anemia
+4 more
GConflicting classifications of pathogenicity
TERT
Single nucleotide variant
(synonymous variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
+5 more
GConflicting classifications of pathogenicity
TERT
Single nucleotide variant
(synonymous variant +1 more)
Aplastic anemia
+5 more
GConflicting classifications of pathogenicity
TERT
(K1050N +1 more)
Single nucleotide variant
(missense variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
+6 more
GConflicting classifications of pathogenicity
TERT
(P1064L +1 more)
Single nucleotide variant
(missense variant +1 more)
Aplastic anemia
+3 more
GUncertain significance
TERT
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+3 more
GBenign/Likely benign
TERT
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+4 more
GBenign
TERT
Single nucleotide variant
(3 prime UTR variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
+2 more
GUncertain significance
TERT
Single nucleotide variant
(3 prime UTR variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
+2 more
GBenign
TERT
Single nucleotide variant
(3 prime UTR variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+2 more
GUncertain significance
LOC110806263, TERT
Single nucleotide variant
(synonymous variant +1 more)
not provided
+11 more
GConflicting classifications of pathogenicity
TERT
(H296P)
Single nucleotide variant
(missense variant +1 more)
Aplastic anemia
+9 more
GConflicting classifications of pathogenicity
TERT
Single nucleotide variant
(synonymous variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
+6 more
GBenign/Likely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
+8 more
GBenign/Likely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
+8 more
GConflicting classifications of pathogenicity
TERT
(V867M)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+2 more
GPathogenic/Likely pathogenic
TERT
Single nucleotide variant
(synonymous variant +1 more)
not specified
+8 more
GBenign/Likely benign
TERT
Single nucleotide variant
(synonymous variant +1 more)
not provided
+7 more
GConflicting classifications of pathogenicity
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