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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EPB42
(R287fs +1 more)
Deletion
(frameshift variant)
Hereditary spherocytosis type 5
Gnot provided
EPB42
(R317C +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
EPB42
(R310Q +1 more)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 5
GLikely pathogenic
EPB42
(T307I +1 more)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 5
GUncertain significance
EPB42
(D175Y +1 more)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 5
GPathogenic
EPB42
(A142T +1 more)
Single nucleotide variant
(missense variant)
EPB42-related condition
+1 more
GConflicting classifications of pathogenicity
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