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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRNT1
(Q189K)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa and erythrocytic microcytosis
+1 more
GUncertain significance
CRBN, TRNT1
(C391R +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+1 more
GLikely pathogenic
ARL8B, BHLHE40
+12 more
Copy number loss
not provided
GPathogenic
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