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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMEM216
(G77A +1 more)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 2
GPathogenic/Likely pathogenic
TMEM216
(R24* +1 more)
Single nucleotide variant
(nonsense)
Joubert syndrome 2
+4 more
GPathogenic/Likely pathogenic
TMEM216
(L114R +1 more)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 2
GPathogenic/Likely pathogenic
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