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Items: 1 to 100 of 278

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AASDHPPT, ABCG4
+1199 more
Copy number gain
See cases
GPathogenic
RDX
Single nucleotide variant
(3 prime UTR variant)
RDX-related disorder
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
(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)
not provided
+1 more
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
(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
Microsatellite
(3 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
RDX
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Duplication
(3 prime UTR variant +1 more)
Hearing loss, autosomal recessive
GUncertain significance
RDX
Deletion
(3 prime UTR variant +1 more)
Hearing loss, autosomal recessive
GUncertain significance
RDX
Deletion
(3 prime UTR variant +1 more)
Hearing loss, autosomal recessive
GUncertain significance
RDX
Deletion
(3 prime UTR variant +1 more)
Hearing loss, autosomal recessive
GUncertain significance
RDX
Insertion
(3 prime UTR variant +1 more)
Hearing loss, autosomal recessive
GUncertain significance
RDX
Microsatellite
(3 prime UTR variant +1 more)
Hearing loss, autosomal recessive
+1 more
GUncertain significance
RDX
Microsatellite
(3 prime UTR variant +1 more)
Hearing loss, autosomal recessive
GUncertain significance
RDX
Microsatellite
(3 prime UTR variant +1 more)
Hearing loss, autosomal recessive
GUncertain significance
RDX
Microsatellite
(3 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
RDX
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Deletion
(3 prime UTR variant +1 more)
Hearing loss, autosomal recessive
GUncertain significance
RDX
Deletion
(3 prime UTR variant +1 more)
Hearing loss, autosomal recessive
GUncertain significance
RDX
Microsatellite
(3 prime UTR variant +1 more)
Hearing loss, autosomal recessive
GLikely benign
RDX
Microsatellite
(3 prime UTR variant +1 more)
Hearing loss, autosomal recessive
+1 more
GUncertain significance
RDX
Insertion
(3 prime UTR variant +1 more)
Hearing loss, autosomal recessive
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
Deletion
(3 prime UTR variant +1 more)
Hearing loss, autosomal recessive
GUncertain significance
RDX
Microsatellite
(3 prime UTR variant +1 more)
Hearing loss, autosomal recessive
GUncertain significance
RDX
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Microsatellite
(3 prime UTR variant +1 more)
Hearing loss, autosomal recessive
GUncertain significance
RDX
Microsatellite
(3 prime UTR variant +1 more)
Hearing loss, autosomal recessive
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
Deletion
(3 prime UTR variant +1 more)
Hearing loss, autosomal recessive
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
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
Deletion
(3 prime UTR variant +1 more)
Hearing loss, autosomal recessive
GUncertain significance
RDX
Deletion
(3 prime UTR variant +1 more)
Hearing loss, autosomal recessive
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
(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
+1 more
GUncertain significance
RDX
(D578N +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 24
GPathogenic
RDX
(I441V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RDX
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
RDX
(R222Q +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RDX
(K159R +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RDX
Duplication
(intron variant)
RDX-related disorder
GLikely benign
RDX
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RDX
Single nucleotide variant
(intron variant)
not provided
GBenign
RDX
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
RDX
(K390R +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
(R176H +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
RDX
(Q172H +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
RDX
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RDX
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GLikely benign
RDX
(T169I +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
(V168I +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
RDX
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
RDX
(H161Y +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
RDX
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RDX
(N502D +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
RDX
(S154P +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
(E152D +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
RDX
(E499Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 24
GUncertain significance
RDX
(A496V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
RDX
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RDX
(D490N +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
RDX
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RDX
(P474L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
RDX
(P337S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
RDX
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
RDX
(P124H +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
RDX
(P471A +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
RDX
(P471S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
RDX
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RDX
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RDX
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GBenign/Likely benign
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