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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IL17RD, LOC126806689
(I313M +1 more)
Single nucleotide variant
(missense variant)
Hypogonadism
GUncertain significance
CKAP2L
(T323fs +1 more)
Deletion
(frameshift variant +1 more)
Intellectual disability
+1 more
GLikely pathogenic