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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PHKB
(N173S +1 more)
Single nucleotide variant
(missense variant)
PHKB-related condition
+2 more
GConflicting classifications of pathogenicity
PHKB
(M185I +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
PHKB
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PHKB
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
PHKB
(Q516* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
PHKB
(Q657K +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PHKB
(K692R +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXb
+2 more
GConflicting classifications of pathogenicity
PHKB
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PHKB
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PHKB
(K961M +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXb
+1 more
GUncertain significance
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