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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VPS33B
(R567G +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
VPS33B
(R585Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
VPS33B
(A419V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS33B
(R2* +2 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
VPS33B
(R51*)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+1 more
GPathogenic
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