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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126807011, RBPJ
(R24Q +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LOC126807011, RBPJ
(Q32R +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126807011, RBPJ
(Q57E +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely pathogenic
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