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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANK1
(R1833* +3 more)
Single nucleotide variant
(nonsense +1 more)
ANK1-related condition
+2 more
GPathogenic/Likely pathogenic
ANK1
(Q1718* +2 more)
Single nucleotide variant
(nonsense)
Hereditary spherocytosis type 1
GPathogenic
ANK1, LOC126860368
(R1488* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
ANK1
(C1366* +1 more)
Single nucleotide variant
(nonsense)
Hereditary spherocytosis type 1
GPathogenic
ANK1
Single nucleotide variant
(splice acceptor variant)
Hereditary spherocytosis type 1
GPathogenic
ANK1
Single nucleotide variant
(intron variant)
Hereditary spherocytosis type 1
+1 more
GPathogenic/Likely pathogenic
ANK1, LOC126860369
Single nucleotide variant
(splice acceptor variant)
Hereditary spherocytosis type 1
GPathogenic
LOC124153154, ANK1
(H178fs +1 more)
Deletion
(frameshift variant)
Hereditary spherocytosis type 1
GPathogenic
ANK1
(M1V)
Single nucleotide variant
(missense variant +2 more)
Hereditary spherocytosis type 1
GLikely pathogenic
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