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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VPS33B
(R362Q +2 more)
Single nucleotide variant
(missense variant)
Arthrogryposis, renal dysfunction, and cholestasis 1
+2 more
GBenign/Likely benign
VPS33B
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
VPS33B
Deletion
(intron variant)
Arthrogryposis with renal dysfunction and cholestasis syndrome
+2 more
GBenign/Likely benign
VPS33B
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+2 more
GBenign
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