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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCB6
(V408A +1 more)
Single nucleotide variant
(missense variant)
Familial pseudohyperkalemia
+5 more
GBenign/Likely benign
ABCB6
(R375W +1 more)
Single nucleotide variant
(missense variant)
Langereis blood group
+3 more
GLikely pathogenic
ABCB6
Single nucleotide variant
(intron variant)
ABCB6-related disorder
+5 more
GBenign/Likely benign
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