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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RIPOR2
(T352S +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 21
+2 more
GUncertain significance
RIPOR2
(Y409C)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nonsyndromic hearing loss 21
+3 more
GUncertain significance
RIPOR2
Deletion
(inframe_deletion)
not provided
GUncertain significance
RIPOR2
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 104
+3 more
GLikely benign
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