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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GSDME
(P212L +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 5
+2 more
GUncertain significance
GSDME
(S106fs)
Duplication
(frameshift variant +1 more)
Autosomal dominant nonsyndromic hearing loss 5
+2 more
GUncertain significance