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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MCFD2
(D108fs +2 more)
Microsatellite
(frameshift variant)
Factor V and factor VIII, combined deficiency of, type 1
GLikely pathogenic
MCFD2
Single nucleotide variant
(intron variant)
MCFD2-related disorder
+1 more
GLikely pathogenic
LMAN1
(K302*)
Single nucleotide variant
(nonsense)
Factor V and factor VIII, combined deficiency of, type 1
GLikely pathogenic
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