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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AP3B1
Single nucleotide variant
(synonymous variant)
Hermansky-Pudlak syndrome 2
GConflicting classifications of pathogenicity
AP3B1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
AP3B1
(F887L +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
AP3B1
Single nucleotide variant
(synonymous variant)
Hermansky-Pudlak syndrome 2
+4 more
GConflicting classifications of pathogenicity
AP3B1
Single nucleotide variant
(synonymous variant)
Hermansky-Pudlak syndrome 2
GConflicting classifications of pathogenicity
AP3B1
(I775K +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
AP3B1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
AP3B1
(I357V +1 more)
Single nucleotide variant
(missense variant)
AP3B1-related disorder
+4 more
GConflicting classifications of pathogenicity
AP3B1
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
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