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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MCMDC2
Single nucleotide variant
(intron variant)
not provided
GBenign
MCMDC2
(R336H)
Single nucleotide variant
(missense variant)
not provided
GBenign
MCMDC2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MCMDC2
(P524S)
Single nucleotide variant
(missense variant)
not provided
GBenign
ARFGEF1, COPS5
+6 more
Duplication
Joubert syndrome 21
GUncertain significance
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