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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TLR8, TLR8-AS1
(F833S +1 more)
Single nucleotide variant
(missense variant)
Autoimmune hemolytic anemia
+1 more
GUncertain significance
TLR8, TLR8-AS1
(G572V +1 more)
Single nucleotide variant
(missense variant)
Autoimmune hemolytic anemia
+1 more
GPathogenic
COPA
(M1087L +1 more)
Single nucleotide variant
(missense variant)
Systemic autoinflammation
GUncertain significance
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