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Links from MedGen

Items: 67

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLDN14, CLDN14-AS1
(A222fs)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 29
GUncertain significance
CLDN14, CLDN14-AS1
(L175F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CLDN14, CLDN14-AS1
(G122S)
Single nucleotide variant
(missense variant)
Hearing impairment
+2 more
GUncertain significance
CLDN14, CLDN14-AS1
(V144M)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 29
GUncertain significance
CLDN14, CLDN14-AS1
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 29
+1 more
GConflicting classifications of pathogenicity
CLDN14, CLDN14-AS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CLDN14, CLDN14-AS1
(C88R)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 29
GUncertain significance
CLDN14, CLDN14-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 29
GUncertain significance
CLDN14, CLDN14-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 29
GUncertain significance
CLDN14, CLDN14-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 29
GUncertain significance
CLDN14, CLDN14-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 29
GUncertain significance
CLDN14, CLDN14-AS1
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 29
GUncertain significance
CLDN14, CLDN14-AS1
(P193L)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 29
GUncertain significance
CLDN14, CLDN14-AS1
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 29
+1 more
GConflicting classifications of pathogenicity
CLDN14, CLDN14-AS1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CLDN14, CLDN14-AS1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 29
GUncertain significance
CLDN14, CLDN14-AS1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 29
GUncertain significance
CLDN14, CLDN14-AS1
Single nucleotide variant
(non-coding transcript variant)
Autosomal recessive nonsyndromic hearing loss 29
GUncertain significance
CLDN14, CLDN14-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 29
GUncertain significance
CLDN14, CLDN14-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 29
GUncertain significance
CLDN14, CLDN14-AS1
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 29
GUncertain significance
CLDN14, CLDN14-AS1
(C64Y)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 29
GLikely pathogenic
CLDN14, CLDN14-AS1
+1 more
(V85D +1 more)
Single nucleotide variant
(missense variant +1 more)
Perrault syndrome
GPathogenic
CLDN14, CLDN14-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 29
GUncertain significance
CLDN14, CLDN14-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 29
GUncertain significance
CLDN14, CLDN14-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 29
GUncertain significance
CLDN14, CLDN14-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 29
GUncertain significance
CLDN14, CLDN14-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 29
GUncertain significance
CLDN14, CLDN14-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 29
GUncertain significance
CLDN14, CLDN14-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 29
GBenign
CLDN14, CLDN14-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 29
GBenign
CLDN14, CLDN14-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 29
GUncertain significance
CLDN14, CLDN14-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 29
GUncertain significance
CLDN14, CLDN14-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 29
GUncertain significance
CLDN14, CLDN14-AS1
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 29
GUncertain significance
CLDN14, CLDN14-AS1
Single nucleotide variant
(intron variant +1 more)
Autosomal recessive nonsyndromic hearing loss 29
GLikely benign
CLDN14, CLDN14-AS1
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CLDN14, CLDN14-AS1
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 29
GUncertain significance
CLDN14, CLDN14-AS1
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 29
+1 more
GConflicting classifications of pathogenicity
CLDN14, CLDN14-AS1
(R32S)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 29
GUncertain significance
CLDN14, CLDN14-AS1
(V99I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CLDN14, CLDN14-AS1
(I126M)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 29
GUncertain significance
CLDN14, CLDN14-AS1
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 29
GUncertain significance
CLDN14, CLDN14-AS1
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 29
+1 more
GConflicting classifications of pathogenicity
CLDN14, CLDN14-AS1
(T179A)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 29
GUncertain significance
CLDN14, CLDN14-AS1
(A196V)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 29
+1 more
GUncertain significance
CLDN14, CLDN14-AS1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 29
+1 more
GBenign/Likely benign
CLDN14, CLDN14-AS1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 29
GUncertain significance
CLDN14, CLDN14-AS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CLDN14, CLDN14-AS1
(A163V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CLDN14-AS1, CLDN14
Single nucleotide variant
(3 prime UTR variant)
not specified
+2 more
GConflicting classifications of pathogenicity
CLDN14, CLDN14-AS1
(G232R)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 29
GPathogenic/Likely pathogenic
CLDN14, CLDN14-AS1
(W56*)
Single nucleotide variant
(nonsense)
CLDN14-related condition
GPathogenic
CLDN14-AS1, CLDN14
(R81H)
Single nucleotide variant
(missense variant)
CLDN14-related condition
+2 more
GPathogenic/Likely pathogenic
CLDN14, CLDN14-AS1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
CLDN14-AS1, CLDN14
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
CLDN14, CLDN14-AS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CLDN14, CLDN14-AS1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
CLDN14, CLDN14-AS1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
CLDN14, CLDN14-AS1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
CLDN14, CLDN14-AS1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
CLDN14, CLDN14-AS1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CLDN14, CLDN14-AS1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
CLDN14, CLDN14-AS1
(T4M)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
CLDN14, CLDN14-AS1
(G101R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CLDN14, CLDN14-AS1
(V85D)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 29
GPathogenic
CLDN14, CLDN14-AS1
(M133fs)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 29
GPathogenic
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