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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BSCL2, GNG3
+2 more
(T5fs)
Microsatellite
(frameshift variant +1 more)
Inborn genetic diseases
GLikely pathogenic
BSCL2, GNG3
+2 more
(A49T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance