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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RIPK1
(M318fs +2 more)
Deletion
(frameshift variant)
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
+2 more
GPathogenic/Likely pathogenic
RIPK1
(Y426* +2 more)
Single nucleotide variant
(nonsense)
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
+1 more
GPathogenic
RIPK1
(C601Y +2 more)
Single nucleotide variant
(missense variant)
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
+1 more
GPathogenic
RIPK1
(I615T +2 more)
Single nucleotide variant
(missense variant)
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
+1 more
GPathogenic
RIPK1
(T645M +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 57
+2 more
GConflicting classifications of pathogenicity
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