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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GREB1L
(L865*)
Single nucleotide variant
(nonsense)
Hearing loss, autosomal dominant 80
GLikely pathogenic
GREB1L
(R1526*)
Single nucleotide variant
(nonsense)
Mayer Rokitansky Kuster Hauser syndrome type 1
+1 more
GPathogenic/Likely pathogenic