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Links from MedGen

Items: 1 to 100 of 148

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WHRN
(R435H +3 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 2D
+2 more
GUncertain significance
WHRN
(R366H)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+2 more
GUncertain significance
WHRN
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 31
+1 more
GBenign
WHRN
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 31
+1 more
GBenign
WHRN
(D340N)
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 31
GUncertain significance
WHRN
(E342K +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
WHRN
(D514A +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
WHRN
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 31
+1 more
GUncertain significance
WHRN
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 31
+2 more
GConflicting classifications of pathogenicity
WHRN
(Q856H +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
WHRN
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 31
+1 more
GUncertain significance
WHRN
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 31
+1 more
GUncertain significance
WHRN
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 31
+1 more
GUncertain significance
WHRN
(H232P)
Single nucleotide variant
(5 prime UTR variant +1 more)
Usher syndrome type 2D
+2 more
GUncertain significance
WHRN
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 31
+3 more
GConflicting classifications of pathogenicity
WHRN
(G6E +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
WHRN
(M136V +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
WHRN
Single nucleotide variant
(5 prime UTR variant)
Usher syndrome type 2D
+1 more
GUncertain significance
WHRN
Single nucleotide variant
(intron variant)
Usher syndrome type 2D
+1 more
GUncertain significance
WHRN
(T744M +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
WHRN
(R362H +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
WHRN
Single nucleotide variant
(intron variant)
Usher syndrome type 2D
+1 more
GUncertain significance
WHRN
(T813M +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
WHRN
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 2D
+1 more
GUncertain significance
WHRN
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 2D
+1 more
GUncertain significance
WHRN
Single nucleotide variant
(synonymous variant)
Usher syndrome type 2D
+2 more
GUncertain significance
WHRN
(D358N)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+2 more
GUncertain significance
WHRN
(R837C +3 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 2D
+1 more
GUncertain significance
WHRN
(T870M +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 31
+1 more
GUncertain significance
WHRN
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 2D
+1 more
GUncertain significance
WHRN
Single nucleotide variant
(5 prime UTR variant)
Usher syndrome type 2D
+1 more
GBenign/Likely benign
WHRN
Single nucleotide variant
(5 prime UTR variant)
Usher syndrome type 2D
+1 more
GUncertain significance
WHRN
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 31
+1 more
GUncertain significance
WHRN
Single nucleotide variant
(5 prime UTR variant)
Usher syndrome type 2D
+1 more
GUncertain significance
WHRN
Single nucleotide variant
(5 prime UTR variant)
Usher syndrome type 2D
+2 more
GConflicting classifications of pathogenicity
WHRN
(G227V)
Single nucleotide variant
(5 prime UTR variant +1 more)
Usher syndrome type 2D
+1 more
GUncertain significance
WHRN
Single nucleotide variant
(5 prime UTR variant +1 more)
Usher syndrome type 2D
+2 more
GConflicting classifications of pathogenicity
WHRN
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 31
+2 more
GConflicting classifications of pathogenicity
WHRN
(P254T +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 31
+2 more
GUncertain significance
WHRN
Single nucleotide variant
(synonymous variant)
Usher syndrome type 2D
+1 more
GUncertain significance
WHRN
(R878Q +3 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 2D
+2 more
GUncertain significance
WHRN
(A884T +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 31
+2 more
GUncertain significance
WHRN
(K889E +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
WHRN
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 2D
+1 more
GBenign
WHRN
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 2D
+1 more
GUncertain significance
WHRN
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 2D
+1 more
GUncertain significance
WHRN
(R490Q +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
WHRN
(A316T +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
WHRN
(L320F)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+3 more
GUncertain significance
WHRN
(R412Q +3 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
WHRN
(S9*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
WHRN
(P807A +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 31
+2 more
GUncertain significance
WHRN
(T47A)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
WHRN
(M461L +2 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
WHRN
(D286fs)
Duplication
(5 prime UTR variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
WHRN
Single nucleotide variant
(5 prime UTR variant)
Usher syndrome type 2D
+1 more
GUncertain significance
WHRN
Single nucleotide variant
(5 prime UTR variant)
Usher syndrome type 2D
+1 more
GUncertain significance
WHRN
Single nucleotide variant
(5 prime UTR variant)
Usher syndrome type 2D
+1 more
GUncertain significance
WHRN
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 31
+2 more
GBenign
WHRN
Single nucleotide variant
(5 prime UTR variant)
Usher syndrome type 2D
+1 more
GUncertain significance
WHRN
Single nucleotide variant
(5 prime UTR variant)
Usher syndrome type 2D
+1 more
GUncertain significance
WHRN
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GBenign
WHRN
Single nucleotide variant
(5 prime UTR variant)
Usher syndrome type 2D
+2 more
GBenign/Likely benign
WHRN
Single nucleotide variant
(5 prime UTR variant)
Usher syndrome type 2D
+1 more
GUncertain significance
WHRN
Single nucleotide variant
(5 prime UTR variant)
Usher syndrome type 2D
+2 more
GBenign/Likely benign
WHRN
Single nucleotide variant
(5 prime UTR variant)
Usher syndrome type 2D
+2 more
GBenign
WHRN
Single nucleotide variant
(5 prime UTR variant)
Usher syndrome type 2D
+1 more
GUncertain significance
WHRN
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
WHRN
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
WHRN
Single nucleotide variant
(intron variant)
Usher syndrome type 2D
+1 more
GUncertain significance
WHRN
Single nucleotide variant
(5 prime UTR variant +1 more)
Usher syndrome type 2D
+1 more
GUncertain significance
WHRN
(S387L +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 2D
+1 more
GUncertain significance
WHRN
Single nucleotide variant
(synonymous variant)
Usher syndrome type 2D
+2 more
GConflicting classifications of pathogenicity
WHRN
Single nucleotide variant
(synonymous variant)
Usher syndrome type 2D
+2 more
GConflicting classifications of pathogenicity
WHRN
Single nucleotide variant
(synonymous variant)
Usher syndrome type 2D
+3 more
GConflicting classifications of pathogenicity
WHRN
(Y444C +2 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 2D
+2 more
GUncertain significance
WHRN
(G451R +2 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 2D
+1 more
GUncertain significance
WHRN
(V460I +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 31
+2 more
GUncertain significance
WHRN
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
WHRN
Single nucleotide variant
(synonymous variant)
Usher syndrome type 2D
+1 more
GUncertain significance
WHRN
(A631V +2 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 2D
+2 more
GUncertain significance
WHRN
Single nucleotide variant
(synonymous variant)
WHRN-related condition
+2 more
GConflicting classifications of pathogenicity
WHRN
(E725Q +2 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 2D
+1 more
GUncertain significance
WHRN
(L750V +3 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 2D
+1 more
GUncertain significance
WHRN
(S754L +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
WHRN
(P794L +3 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 2D
+1 more
GUncertain significance
WHRN
(R795W +3 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 2D
+2 more
GUncertain significance
WHRN
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 2D
+2 more
GConflicting classifications of pathogenicity
WHRN
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 2D
+1 more
GUncertain significance
WHRN
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 31
+1 more
GUncertain significance
WHRN
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 2D
+1 more
GUncertain significance
WHRN
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 2D
+1 more
GUncertain significance
WHRN
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 2D
+1 more
GUncertain significance
WHRN
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 2D
+1 more
GUncertain significance
WHRN
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 2D
+1 more
GUncertain significance
WHRN
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
WHRN
(V359I)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
WHRN
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
WHRN
(S12L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
WHRN
(R837H +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
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