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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TERT
(R671W)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
TERT
(P704S)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
+3 more
GPathogenic/Likely pathogenic
TERT
(R901W)
Single nucleotide variant
(missense variant +1 more)
Idiopathic Pulmonary Fibrosis
+2 more
GConflicting classifications of pathogenicity
TERT
(R811C)
Single nucleotide variant
(missense variant)
Idiopathic Pulmonary Fibrosis
+2 more
GConflicting classifications of pathogenicity
TERT
(H412Y)
Single nucleotide variant
(missense variant +1 more)
Aplastic anemia
+8 more
GConflicting classifications of pathogenicity
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