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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MADD
(R104* +1 more)
Single nucleotide variant
(nonsense +2 more)
Deeah syndrome
GLikely pathogenic
MADD
Single nucleotide variant
(splice acceptor variant)
Deeah syndrome
+1 more
GLikely pathogenic