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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPTA1
Single nucleotide variant
(intron variant)
Hereditary spherocytosis
+1 more
GPathogenic
SPTA1
(M1433T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPTA1
(Q1263E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPTA1
(S618fs)
Duplication
(frameshift variant)
Hereditary spherocytosis type 3
GPathogenic
SPTA1
Single nucleotide variant
(splice acceptor variant)
Spherocytosis
GLikely pathogenic
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