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Links from MedGen

Items: 94

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CRYL1, GJB6
Deletion
Autosomal recessive nonsyndromic hearing loss 1A
+3 more
GUncertain significance
GJB2, GJB6
Duplication
Autosomal recessive nonsyndromic hearing loss 1A
+3 more
GUncertain significance
GJB6
(R107K)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 3B
+3 more
GUncertain significance
GJB6
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 1B
+3 more
GLikely benign
GJB6
(M203L)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 3B
+3 more
GUncertain significance
GJB6
(R32*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 1B
+3 more
GUncertain significance
GJB6
(G59V)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1A
+3 more
GUncertain significance
GJB6
(A198E)
Single nucleotide variant
(missense variant)
Hidrotic ectodermal dysplasia syndrome
GUncertain significance
GJB6
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GLikely benign
GJB6
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 1A
+3 more
GLikely benign
GJB6
(S251R)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 3B
+3 more
GUncertain significance
GJB6
(V153G)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1B
+3 more
GUncertain significance
GJB6
(R75W)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1B
+3 more
GUncertain significance
GJB6
(V153A)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1A
+3 more
GUncertain significance
GJB6
(R32Q)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1A
+3 more
GUncertain significance
GJB6
(R143Q)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1A
+3 more
GUncertain significance
GJB6
(Q124R)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1B
+4 more
GUncertain significance
GJB6
(R108Q)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1B
+4 more
GUncertain significance
GJB6
(G21R)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 3B
+5 more
GUncertain significance
GJB6
Duplication
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 1B
+5 more
GBenign/Likely benign
GJB6
Deletion
Autosomal recessive nonsyndromic hearing loss 1A
+3 more
GPathogenic
GJB6
(I118V)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1B
+3 more
GUncertain significance
GJB6
(P173L)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
GJB6
(I248V)
Single nucleotide variant
(missense variant)
Hidrotic ectodermal dysplasia syndrome
GUncertain significance
GJB6
Single nucleotide variant
(3 prime UTR variant)
Hidrotic ectodermal dysplasia syndrome
GUncertain significance
GJB6
Single nucleotide variant
(5 prime UTR variant)
Hidrotic ectodermal dysplasia syndrome
GUncertain significance
GJB6
Single nucleotide variant
(5 prime UTR variant)
Hidrotic ectodermal dysplasia syndrome
GBenign
GJB6
Single nucleotide variant
(5 prime UTR variant)
Hidrotic ectodermal dysplasia syndrome
GUncertain significance
GJB6
Single nucleotide variant
(3 prime UTR variant)
Hidrotic ectodermal dysplasia syndrome
GLikely benign
GJB6
(V37M)
Single nucleotide variant
(missense variant)
Hidrotic ectodermal dysplasia syndrome
+3 more
GUncertain significance
GJB6
(V71A)
Single nucleotide variant
(missense variant)
Hidrotic ectodermal dysplasia syndrome
+4 more
GConflicting classifications of pathogenicity
GJB6
(R104H)
Single nucleotide variant
(missense variant)
Hidrotic ectodermal dysplasia syndrome
+1 more
GUncertain significance
GJB6
Single nucleotide variant
(intron variant)
Hidrotic ectodermal dysplasia syndrome
GLikely benign
GJB6
Single nucleotide variant
(intron variant)
Hidrotic ectodermal dysplasia syndrome
GLikely benign
GJB6
Single nucleotide variant
(synonymous variant)
Hidrotic ectodermal dysplasia syndrome
GUncertain significance
GJB6
Single nucleotide variant
(synonymous variant)
Hidrotic ectodermal dysplasia syndrome
+5 more
GBenign/Likely benign
GJB6
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
GJB6
(W77fs)
Deletion
(frameshift variant)
Autosomal dominant nonsyndromic hearing loss 3B
+4 more
GUncertain significance
GJB6
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 3B
+3 more
GLikely benign
GJB6
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GConflicting classifications of pathogenicity
GJB6
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GLikely benign
GJB6
(D120N)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign/Likely benign
GJB6
(E101Q)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 3B
+3 more
GUncertain significance
CRYL1, EEF1AKMT1
+32 more
Duplication
Autosomal recessive nonsyndromic hearing loss 1B
+3 more
GUncertain significance
GJB6
(C211G)
Single nucleotide variant
(missense variant)
Hidrotic ectodermal dysplasia syndrome
+4 more
GUncertain significance
GJB6
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 1B
+4 more
GConflicting classifications of pathogenicity
GJB6
(S261G)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
GJB6
(C60F)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
GJB6
(A40V)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1A
+4 more
GUncertain significance
GJB6
Single nucleotide variant
(intron variant)
Hidrotic ectodermal dysplasia syndrome
GUncertain significance
GJB6
Single nucleotide variant
(intron variant)
Hidrotic ectodermal dysplasia syndrome
GUncertain significance
GJB6
Single nucleotide variant
(intron variant)
Hidrotic ectodermal dysplasia syndrome
+1 more
GLikely benign
GJB6
Single nucleotide variant
(intron variant)
Hidrotic ectodermal dysplasia syndrome
GUncertain significance
GJB6
Single nucleotide variant
(intron variant)
Hidrotic ectodermal dysplasia syndrome
GLikely benign
GJB6
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
GJB6
Single nucleotide variant
(intron variant)
Hidrotic ectodermal dysplasia syndrome
+1 more
GLikely benign
GJB6
Single nucleotide variant
(intron variant)
Hidrotic ectodermal dysplasia syndrome
GUncertain significance
GJB6
Single nucleotide variant
(5 prime UTR variant +1 more)
Hidrotic ectodermal dysplasia syndrome
GLikely benign
GJB6
Single nucleotide variant
(5 prime UTR variant +1 more)
Hidrotic ectodermal dysplasia syndrome
GLikely benign
GJB6
Single nucleotide variant
(5 prime UTR variant +1 more)
Hidrotic ectodermal dysplasia syndrome
GUncertain significance
GJB6
Single nucleotide variant
(5 prime UTR variant)
Hidrotic ectodermal dysplasia syndrome
GUncertain significance
GJB6
Single nucleotide variant
(5 prime UTR variant)
Hidrotic ectodermal dysplasia syndrome
GUncertain significance
GJB6
Single nucleotide variant
(5 prime UTR variant)
Hidrotic ectodermal dysplasia syndrome
GUncertain significance
GJB6
Single nucleotide variant
(5 prime UTR variant)
Hidrotic ectodermal dysplasia syndrome
GUncertain significance
GJB6
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign
GJB6
Single nucleotide variant
(5 prime UTR variant)
Hidrotic ectodermal dysplasia syndrome
GUncertain significance
GJB6
Single nucleotide variant
(5 prime UTR variant)
Hidrotic ectodermal dysplasia syndrome
GUncertain significance
GJB6
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 1A
+4 more
GConflicting classifications of pathogenicity
GJB6
(K22fs)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 1A
+5 more
GConflicting classifications of pathogenicity
GJB6
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 1A
+5 more
GConflicting classifications of pathogenicity
GJB6
Single nucleotide variant
(synonymous variant)
Hidrotic ectodermal dysplasia syndrome
GUncertain significance
GJB6
(T227M)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
GJB6
Single nucleotide variant
(3 prime UTR variant)
Hidrotic ectodermal dysplasia syndrome
GUncertain significance
GJB6
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
GJB6
Single nucleotide variant
(3 prime UTR variant)
Hidrotic ectodermal dysplasia syndrome
GBenign
GJB6
Single nucleotide variant
(3 prime UTR variant)
Hidrotic ectodermal dysplasia syndrome
GUncertain significance
GJB6
Single nucleotide variant
(3 prime UTR variant)
Hidrotic ectodermal dysplasia syndrome
GUncertain significance
GJB6
Single nucleotide variant
(3 prime UTR variant)
Hidrotic ectodermal dysplasia syndrome
GLikely benign
GJB6
(P232H)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
GJB6
Single nucleotide variant
(synonymous variant)
Hidrotic ectodermal dysplasia syndrome
+4 more
GConflicting classifications of pathogenicity
GJB6
(E101K)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1B
+5 more
GConflicting classifications of pathogenicity
GJB6
Single nucleotide variant
(synonymous variant)
Hidrotic ectodermal dysplasia syndrome
+4 more
GConflicting classifications of pathogenicity
GJB6
(N113K)
Single nucleotide variant
(missense variant)
Hidrotic ectodermal dysplasia syndrome
+5 more
GBenign/Likely benign
GJB6
(P70L)
Single nucleotide variant
(missense variant)
GJB6-related condition
+3 more
GUncertain significance
GJB6
(N230fs)
Duplication
(frameshift variant)
not provided
+5 more
GConflicting classifications of pathogenicity
GJB6
(V207M)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1B
+4 more
GUncertain significance
GJB6
(M203V)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1B
+4 more
GBenign/Likely benign
GJB6
(S199T)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1A
+5 more
GBenign/Likely benign
GJB6
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GConflicting classifications of pathogenicity
GJB6
(N159S)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1B
+5 more
GBenign/Likely benign
GJB6
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GConflicting classifications of pathogenicity
GJB6
(V37E)
Single nucleotide variant
(missense variant)
Hidrotic ectodermal dysplasia syndrome
GPathogenic
GJB6
(A88V)
Single nucleotide variant
(missense variant)
X-linked mixed hearing loss with perilymphatic gusher
+4 more
GPathogenic
GJB6
(G11R)
Single nucleotide variant
(missense variant)
GJB6-related disorder
+6 more
GPathogenic
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