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Links from MedGen

Items: 99

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RDX
(Q67* +1 more)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GLikely pathogenic
RDX
(I359fs +2 more)
Deletion
(frameshift variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GLikely pathogenic
RDX
(S154P +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
(A102fs +2 more)
Deletion
(frameshift variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GPathogenic
RDX
(R171fs +1 more)
Deletion
(frameshift variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GLikely pathogenic
RDX
(R243* +2 more)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GLikely pathogenic
RDX
(R245* +2 more)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GLikely pathogenic
RDX
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 24
+1 more
GBenign
RDX
(W43*)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GPathogenic
RDX
Deletion
(splice acceptor variant +2 more)
Autosomal recessive nonsyndromic hearing loss 24
GLikely pathogenic
RDX
(R23* +2 more)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GPathogenic
RDX
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
(E499Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
(T169I +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GLikely benign
RDX
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
(K390R +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(synonymous variant +1 more)
RDX-related condition
+2 more
GConflicting classifications of pathogenicity
RDX
(L69F +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(splice donor variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GPathogenic
RDX
(Y191* +1 more)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
(Q304* +1 more)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive nonsyndromic hearing loss 24
+1 more
GConflicting classifications of pathogenicity
RDX
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
RDX
Single nucleotide variant
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 24
GLikely benign
RDX
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Deletion
(intron variant)
Nonsyndromic Hearing Loss, Recessive
+2 more
GBenign/Likely benign
RDX
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
(Y201C +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
+1 more
GUncertain significance
RDX
(R279L +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
(R350H +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
+1 more
GUncertain significance
RDX
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
(A399T +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
(P471A +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
+1 more
GUncertain significance
RDX
(N502D +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
+1 more
GUncertain significance
RDX
Single nucleotide variant
(synonymous variant +1 more)
RDX-related condition
+2 more
GConflicting classifications of pathogenicity
RDX
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(intron variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GLikely benign
RDX
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
RDX
(A496V +2 more)
Single nucleotide variant
(missense variant +1 more)
RDX-related condition
+3 more
GConflicting classifications of pathogenicity
RDX
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
RDX
Single nucleotide variant
(splice donor variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GPathogenic
RDX
(Q155* +1 more)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GPathogenic
RDX
(A333fs +2 more)
Duplication
(frameshift variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GPathogenic
RDX
(D578N +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 24
GPathogenic
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