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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TERT
(R901W)
Single nucleotide variant
(missense variant +1 more)
Idiopathic Pulmonary Fibrosis
+3 more
GConflicting classifications of pathogenicity
TERT
(R811C)
Single nucleotide variant
(missense variant)
Idiopathic Pulmonary Fibrosis
+2 more
GConflicting classifications of pathogenicity
NHP2, RMND5B
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GPathogenic
NHP2, RMND5B
(Y139H)
Single nucleotide variant
(3 prime UTR variant +1 more)
Dyskeratosis congenita, autosomal recessive 2
GPathogenic
NHP2, RMND5B
(V126M)
Single nucleotide variant
(synonymous variant +2 more)
Dyskeratosis congenita, autosomal recessive 2
GPathogenic
NOP10
(R34W)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal recessive 1
GPathogenic
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