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Links from OMIM

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FADD
(C105W)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GPathogenic
NRAS
(G13D)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
PRF1
(A91V)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity; risk factor
PRF1
(N252S)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
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