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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GSDME
(L317I +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 5
GUncertain significance
GSDME
Microsatellite
(intron variant)
not provided
+2 more
GPathogenic
GSDME
(G242D +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 5
GUncertain significance
GSDME
Single nucleotide variant
(splice acceptor variant)
Autosomal dominant nonsyndromic hearing loss 5
GConflicting classifications of pathogenicity
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