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Links from MedGen

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TERT
(L97fs)
Indel
(frameshift variant +1 more)
Telomere syndrome
GPathogenic
RTEL1, RTEL1-TNFRSF6B
(H1210fs +2 more)
Indel
(non-coding transcript variant +1 more)
Telomere syndrome
GPathogenic
LOC110806263, TERT
(Q86H)
Single nucleotide variant
(missense variant +1 more)
Telomere syndrome
GPathogenic
TERT
(A977T +1 more)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+1 more
GLikely pathogenic
PARN
(H13Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
GUncertain significance
LOC110806306, TERC
Single nucleotide variant
Dyskeratosis congenita, autosomal dominant 1
+1 more
GConflicting classifications of pathogenicity
RTEL1, RTEL1-TNFRSF6B
(Y482C +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
(I519fs +2 more)
Deletion
(non-coding transcript variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
GPathogenic
TERT
(L864P)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
TERT
(R671W)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
PARN
(R349W +2 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal recessive 6
+1 more
GUncertain significance
TERT
(R631Q)
Single nucleotide variant
(missense variant +1 more)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
+3 more
GPathogenic
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