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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
REST
(C415S)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 27
GPathogenic
REST
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
REST
(H1033R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
REST
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 27
GPathogenic
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