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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COPA
(I903V +1 more)
Single nucleotide variant
(missense variant)
Autoimmune interstitial lung disease-arthritis syndrome
GUncertain significance
COPA
(R745H +1 more)
Single nucleotide variant
(missense variant)
Autoimmune interstitial lung disease-arthritis syndrome
+1 more
GConflicting classifications of pathogenicity
COPA
(R260C)
Single nucleotide variant
(missense variant)
Autoimmune interstitial lung disease-arthritis syndrome
GConflicting classifications of pathogenicity
COPA
(R233H)
Single nucleotide variant
(missense variant)
See cases
+1 more
GPathogenic
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