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Links from MedGen

Items: 78

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ESRRB
(G167R +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 35
GPathogenic
ESRRB
(S448*)
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 35
GLikely pathogenic
ESRRB
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
(E77K +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
(G66E +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 35
+1 more
GUncertain significance
ESRRB
(G55S +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
(L483P)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ESRRB
(G471R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
(D465V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 35
+1 more
GUncertain significance
ESRRB
(R174C +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 35
GLikely pathogenic
ESRRB
(D245H +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
(G263S +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 35
GPathogenic
ESRRB
(R182H +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 35
GPathogenic
ESRRB
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 35
GBenign
ESRRB
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 35
+1 more
GBenign
ESRRB
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 35
+1 more
GBenign
ESRRB
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 35
+1 more
GConflicting classifications of pathogenicity
ESRRB
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ESRRB
(L199S +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ESRRB
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 35
+1 more
GConflicting classifications of pathogenicity
ESRRB
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
(A80V +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ESRRB
(G43S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ESRRB
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ESRRB
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 35
GUncertain significance
ESRRB
(D297N +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ESRRB
(R382C +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 35
+2 more
GConflicting classifications of pathogenicity
ESRRB
(G499D)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
ESRRB
Single nucleotide variant
(intron variant)
not specified
+1 more
GUncertain significance
ESRRB
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
ESRRB
(A48V +1 more)
Single nucleotide variant
(missense variant)
ESRRB-related condition
+3 more
GConflicting classifications of pathogenicity
ESRRB
(P480S)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
ESRRB
(P470L)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
ESRRB
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ESRRB
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ESRRB
(R6G +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
ESRRB
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
ESRRB
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
ESRRB
(R476H)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ESRRB
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
ESRRB
(F456L)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ESRRB
(V413I +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
ESRRB
(P386S +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
ESRRB
(V342L +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 35
GPathogenic
ESRRB
(A110V +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 35
GPathogenic
ESRRB
(V342fs +1 more)
Duplication
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 35
GPathogenic
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