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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CORO1A, LOC121587541
(R201H)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to CORO1A deficiency
GUncertain significance
CORO1A
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to CORO1A deficiency
GLikely benign