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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HPS6, LOC130004578
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
HPS6, LOC130004578
Single nucleotide variant
(synonymous variant)
HPS6-related condition
+3 more
GBenign/Likely benign
HPS6, LOC130004578
(V95fs)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome
+1 more
GPathogenic
HPS6
(R113W)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
HPS6
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
HPS6
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
HPS6
(L233R)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
HPS6
(H354Y)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
HPS6
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
HPS6
(L622fs)
Deletion
(frameshift variant)
not provided
GPathogenic
HPS6
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
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