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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RTEL1, RTEL1-TNFRSF6B
(H147fs +1 more)
Deletion
(non-coding transcript variant +2 more)
See cases
GPathogenic
RTEL1, RTEL1-TNFRSF6B
(R1264H)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
+6 more
GPathogenic/Likely pathogenic