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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPTA1
Single nucleotide variant
(intron variant)
Pyropoikilocytosis, hereditary
+4 more
GPathogenic
SPTA1
Single nucleotide variant
(intron variant)
Pyropoikilocytosis, hereditary
GPathogenic
SPTA1
(A970D)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign/Likely benign
SPTA1
Single nucleotide variant
(intron variant)
Pyropoikilocytosis, hereditary
GPathogenic
SPTA1
(D791E)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+4 more
GConflicting classifications of pathogenicity
SPTA1
(L207P)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
SPTA1
Duplication
(inframe_insertion)
Elliptocytosis 2
+2 more
GPathogenic/Likely pathogenic
SPTA1
(K48R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPTA1
(R45S)
Single nucleotide variant
(missense variant)
Elliptocytosis 2
+1 more
GPathogenic
SPTA1
(R28H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
SPTA1
(R28C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
SPTA1
(R28S)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
SPTB
(A2018G)
Single nucleotide variant
(missense variant)
Pyropoikilocytosis, hereditary
+1 more
GPathogenic
SPTA1
Insertion
Pyropoikilocytosis, hereditary
+1 more
GPathogenic
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