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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
Dyskeratosis congenita, autosomal recessive 5
GLikely pathogenic
RTEL1, RTEL1-TNFRSF6B
(A645T +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal dominant 4
GPathogenic
RTEL1, RTEL1-TNFRSF6B
(R1010* +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
RTEL1-related disorder
+4 more
GPathogenic/Likely pathogenic
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