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Links from Gene

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYB5A, LOC132090521
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LOC132090521, CYB5A
(V9L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
CYB5A, LOC132090521
(W27*)
Single nucleotide variant
(nonsense)
Methemoglobinemia type 4
GLikely pathogenic
CYB5A, LOC132090521
(S5A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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