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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANK1, LOC126860368
(Q1489* +1 more)
Single nucleotide variant
(nonsense)
Hereditary spherocytosis type 1
+1 more
GPathogenic/Likely pathogenic
ANK1
(D1284fs +1 more)
Deletion
(frameshift variant)
Hereditary spherocytosis type 1
GPathogenic
ANK1
(Y1259fs +1 more)
Deletion
(frameshift variant)
Hereditary spherocytosis type 1
GLikely pathogenic
ANK1
Single nucleotide variant
(splice donor variant)
Hereditary spherocytosis type 1
GPathogenic
ANK1
(L1090fs +1 more)
Deletion
(frameshift variant)
Hereditary spherocytosis type 1
GLikely pathogenic
ANK1
(R1068Q +1 more)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 1
GUncertain significance
ANK1
(H1020fs +1 more)
Deletion
(frameshift variant)
Hereditary spherocytosis type 1
GLikely pathogenic
ANK1
(V798fs +1 more)
Deletion
(frameshift variant)
Hereditary spherocytosis type 1
GPathogenic
ANK1
(H756N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
ANK1
(Y702fs +1 more)
Duplication
(frameshift variant)
Hereditary spherocytosis type 1
GLikely pathogenic
ANK1
(L669fs +1 more)
Deletion
(frameshift variant)
Hereditary spherocytosis type 1
GLikely pathogenic
ANK1
(K128fs +1 more)
Deletion
(frameshift variant)
Hereditary spherocytosis type 1
GPathogenic
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