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Links from MedGen

Items: 87

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC17A8
(K15*)
Single nucleotide variant
(nonsense)
Autosomal dominant nonsyndromic hearing loss 25
GPathogenic
SLC17A8
Deletion
(splice donor variant)
Autosomal dominant nonsyndromic hearing loss 25
GLikely pathogenic
SLC17A8
(R394fs +1 more)
Duplication
(frameshift variant)
not provided
+1 more
GUncertain significance
SLC17A8
(I391V +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 25
+1 more
GUncertain significance
SLC17A8
(R394C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SLC17A8
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 25
+1 more
GBenign
SLC17A8
(P212T)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 25
GLikely pathogenic
SLC17A8
(M206fs)
Duplication
(frameshift variant)
Autosomal dominant nonsyndromic hearing loss 25
GPathogenic
SLC17A8
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 25
GUncertain significance
SLC17A8
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 25
GLikely benign
SLC17A8
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 25
GUncertain significance
SLC17A8
(G549R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SLC17A8
(A490V +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 25
GUncertain significance
SLC17A8
(N482T +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 25
GUncertain significance
SLC17A8
(R477H +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 25
+1 more
GUncertain significance
SLC17A8
(E42K)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 25
GUncertain significance
SLC17A8
(D37G)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 25
GUncertain significance
SLC17A8
(D37N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SLC17A8
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 25
GLikely benign
SLC17A8
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 25
GUncertain significance
SLC17A8
(R394L +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 25
GUncertain significance
SLC17A8
(I369T +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 25
+1 more
GUncertain significance
SLC17A8
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 25
GUncertain significance
SLC17A8
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 25
GUncertain significance
SLC17A8
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GLikely benign
SLC17A8
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 25
GLikely benign
SLC17A8
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 25
GUncertain significance
SLC17A8
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 25
GUncertain significance
SLC17A8
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 25
GUncertain significance
SLC17A8
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 25
GUncertain significance
SLC17A8
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 25
GUncertain significance
SLC17A8
(M256L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SLC17A8
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 25
GUncertain significance
SLC17A8
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 25
GUncertain significance
SLC17A8
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 25
GUncertain significance
SLC17A8
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 25
GLikely benign
SLC17A8
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 25
GLikely benign
SLC17A8
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 25
+1 more
GConflicting classifications of pathogenicity
SLC17A8
(R189K)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 25
GUncertain significance
SLC17A8
Single nucleotide variant
(splice donor variant)
Autosomal dominant nonsyndromic hearing loss 25
GUncertain significance
SLC17A8
(I78V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
SLC17A8
(T57M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SLC17A8
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 25
GUncertain significance
SLC17A8
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 25
GUncertain significance
SLC17A8
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 25
GUncertain significance
SLC17A8
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 25
GUncertain significance
SLC17A8
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 25
GUncertain significance
SLC17A8
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 25
GBenign
SLC17A8
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 25
GUncertain significance
SLC17A8
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 25
GBenign
SLC17A8
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 25
GUncertain significance
SLC17A8
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 25
GUncertain significance
SLC17A8
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 25
GBenign
SLC17A8
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 25
GUncertain significance
SLC17A8
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 25
GUncertain significance
SLC17A8
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 25
GUncertain significance
SLC17A8
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 25
GUncertain significance
SLC17A8
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 25
+1 more
GBenign
SLC17A8
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 25
+1 more
GBenign
SLC17A8
(S418F +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 25
GUncertain significance
SLC17A8
(A339D)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
SLC17A8
(A339T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
SLC17A8
(I320V)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nonsyndromic hearing loss 25
GUncertain significance
SLC17A8
(T305A)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nonsyndromic hearing loss 25
GUncertain significance
SLC17A8
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 25
GUncertain significance
SLC17A8
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 25
+1 more
GBenign
SLC17A8
(A220T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC17A8
(P213R)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 25
+2 more
GUncertain significance
SLC17A8
(A177V)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 25
GUncertain significance
SLC17A8
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 25
GUncertain significance
SLC17A8
(K74T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SLC17A8
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC17A8
(T40A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SLC17A8
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 25
GUncertain significance
SLC17A8
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 25
GUncertain significance
SLC17A8
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign
SLC17A8
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
SLC17A8
(A374S +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 25
+1 more
GConflicting classifications of pathogenicity
SLC17A8
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
SLC17A8
(L466I +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 25
+3 more
GConflicting classifications of pathogenicity
SLC17A8
(T8I)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 25
+2 more
GBenign
SLC17A8
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 25
+2 more
GBenign
SLC17A8
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 25
+2 more
GBenign
SLC17A8
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 25
+2 more
GBenign
SLC17A8
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
SLC17A8
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 25
+2 more
GBenign
SLC17A8
(A211V)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
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