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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRPS1
(L919P +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
TRPS1
(R244* +3 more)
Single nucleotide variant
(nonsense)
Trichorhinophalangeal dysplasia type I
+2 more
GPathogenic