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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CORO1A
(L116P)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to CORO1A deficiency
GUncertain significance
CORO1A
(V174M)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to CORO1A deficiency
GUncertain significance
CORO1A, LOC121587541
(R199C)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to CORO1A deficiency
GUncertain significance
CORO1A
(P366H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
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