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Links from MedGen

Items: 1 to 100 of 628

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC26A4
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 4
GLikely pathogenic
SLC26A4
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 4
GPathogenic
SLC26A4
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 4
GLikely pathogenic
SLC26A4
(S55T)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 4
GUncertain significance
SLC26A4
(G439R)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 4
+1 more
GLikely pathogenic
SLC26A4
(F223S)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 4
+1 more
GPathogenic
SLC26A4
(G544fs)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 4
GLikely pathogenic
SLC26A4
(I539V)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 4
GLikely pathogenic
SLC26A4
(D573Y)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 4
GLikely pathogenic
SLC26A4
(G139fs)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 4
GPathogenic
SLC26A4
Single nucleotide variant
(splice donor variant)
Autosomal recessive nonsyndromic hearing loss 4
GPathogenic
SLC26A4
Deletion
(splice donor variant)
Autosomal recessive nonsyndromic hearing loss 4
GLikely pathogenic
SLC26A4
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive nonsyndromic hearing loss 4
GLikely pathogenic
SLC26A4
Single nucleotide variant
(splice donor variant)
Autosomal recessive nonsyndromic hearing loss 4
GPathogenic/Likely pathogenic
SLC26A4
(S391N)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 4
GLikely pathogenic
SLC26A4
Deletion
(nonsense)
Autosomal recessive nonsyndromic hearing loss 4
GPathogenic
SLC26A4
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive nonsyndromic hearing loss 4
GLikely pathogenic
SLC26A4
(S517fs)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 4
GLikely pathogenic
SLC26A4
(A406fs)
Indel
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 4
GLikely pathogenic
SLC26A4
(Q750*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 4
GLikely pathogenic
SLC26A4
(Q200*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 4
+1 more
GPathogenic/Likely pathogenic
SLC26A4
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive nonsyndromic hearing loss 4
GLikely pathogenic
SLC26A4
Single nucleotide variant
(splice donor variant)
Autosomal recessive nonsyndromic hearing loss 4
GPathogenic
SLC26A4
Single nucleotide variant
(splice donor variant)
Autosomal recessive nonsyndromic hearing loss 4
GLikely pathogenic
SLC26A4
(R409L)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 4
GLikely pathogenic
SLC26A4
(F683fs)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 4
GLikely pathogenic
SLC26A4
(V113fs)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 4
GLikely pathogenic
SLC26A4
(F484fs)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 4
GLikely pathogenic
SLC26A4
(W74*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 4
+1 more
GPathogenic/Likely pathogenic
SLC26A4
(Q739fs)
Duplication
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 4
GLikely pathogenic
SLC26A4
Microsatellite
(splice donor variant)
Autosomal recessive nonsyndromic hearing loss 4
GLikely pathogenic
SLC26A4
(Q421*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 4
GLikely pathogenic
SLC26A4
(S234*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 4
+1 more
GPathogenic/Likely pathogenic
SLC26A4
(P342fs)
Duplication
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 4
GPathogenic
SLC26A4
(E626*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 4
+1 more
GPathogenic/Likely pathogenic
SLC26A4
(V280fs)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 4
+1 more
GPathogenic/Likely pathogenic
SLC26A4
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive nonsyndromic hearing loss 4
GLikely pathogenic
SLC26A4
(R512fs)
Microsatellite
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 4
+1 more
GPathogenic
SLC26A4
Indel
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
SLC26A4
(N457I)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 4
+1 more
GPathogenic/Likely pathogenic
SLC26A4
(N558fs)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 4
GLikely pathogenic
SLC26A4
Deletion
not provided
+1 more
GPathogenic/Likely pathogenic
SLC26A4
(M461fs)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 4
GLikely pathogenic
SLC26A4
(E635fs)
Microsatellite
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 4
GLikely pathogenic
SLC26A4
(V196D)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 4
+1 more
GConflicting classifications of pathogenicity
SLC26A4
(W83*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 4
GPathogenic
SLC26A4
(V577G)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 4
GLikely pathogenic
SLC26A4
(D573H)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 4
GLikely pathogenic
SLC26A4
(L68P)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 4
GLikely pathogenic
FOXI1
(E27A)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 4
GUncertain significance
SLC26A4
(L215fs)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 4
+1 more
GPathogenic/Likely pathogenic
LOC123956210, SLC26A4
(Q705*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 4
+1 more
GPathogenic
SLC26A4
(L195P)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 4
GLikely pathogenic
SLC26A4
(P70S)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 4
GLikely pathogenic
SLC26A4, SLC26A4-AS1
(H36P)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive nonsyndromic hearing loss 4
GLikely pathogenic
SLC26A4
(T174fs)
Duplication
(frameshift variant)
Pendred syndrome
+1 more
GLikely pathogenic
SLC26A4
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 4
GConflicting classifications of pathogenicity
SLC26A4
(N246H)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 4
GUncertain significance
SLC26A4
(I529T)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 4
GLikely pathogenic
SLC26A4
(Y375C)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 4
+3 more
GConflicting classifications of pathogenicity
FOXI1
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 4
+2 more
GLikely benign
FOXI1
(A275T)
Single nucleotide variant
(missense variant +1 more)
FOXI1-related disorder
+3 more
GLikely benign
SLC26A4
(L206*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 4
GLikely pathogenic
SLC26A4
(P525L)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 4
+1 more
GPathogenic/Likely pathogenic
KCNJ10
(Q212R)
Single nucleotide variant
(missense variant)
Pendred syndrome
+2 more
GUncertain significance
SLC26A4
(L251fs)
Duplication
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 4
+1 more
GPathogenic/Likely pathogenic
KCNJ10
(I60V)
Single nucleotide variant
(missense variant)
Pendred syndrome
+2 more
GUncertain significance
KCNJ10
(G83A)
Single nucleotide variant
(missense variant)
Pendred syndrome
+3 more
GUncertain significance
FOXI1
(A255T)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 4
+3 more
GUncertain significance
SLC26A4
(G95E)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 4
GPathogenic/Likely pathogenic
SLC26A4
(A352fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
SLC26A4
(P112S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
SLC26A4
(R677fs)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 4
GPathogenic
SLC26A4
(A429E)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
SLC26A4
(N268S)
Single nucleotide variant
(missense variant)
Pendred syndrome
+3 more
GUncertain significance
SLC26A4
(T745M)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 4
+2 more
GUncertain significance
SLC26A4
(G102R)
Single nucleotide variant
(missense variant)
not specified
+2 more
GPathogenic/Likely pathogenic
LOC123956210, SLC26A4
(L703V)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
SLC26A4
(C662Y)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 4
GPathogenic
SLC26A4
(F572L)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 4
GPathogenic
SLC26A4
(N457D)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 4
GPathogenic
SLC26A4
(D271G)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 4
GPathogenic
SLC26A4
(G209fs)
Indel
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 4
GPathogenic
SLC26A4
(F141L)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 4
GPathogenic
SLC26A4
(S93R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
SLC26A4
(S532R)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
SLC26A4
(E443Q)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 4
GPathogenic
SLC26A4
(G205V)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 4
GUncertain significance
SLC26A4
(D639Y)
Single nucleotide variant
(missense variant)
Pendred syndrome
+1 more
GUncertain significance
SLC26A4
(F335V)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 4
GLikely pathogenic
SLC26A4
(I621V)
Single nucleotide variant
(missense variant)
Pendred syndrome
+1 more
GUncertain significance
SLC26A4
(G63A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SLC26A4
(G265A)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 4
+1 more
GUncertain significance
SLC26A4
(I554M)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 4
GUncertain significance
SLC26A4
(G114R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SLC26A4
(V680fs)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 4
GPathogenic
SLC26A4
(S610fs)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 4
GPathogenic
SLC26A4
Single nucleotide variant
(splice donor variant)
Autosomal recessive nonsyndromic hearing loss 4
GPathogenic
SLC26A4
(P553S)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 4
GLikely pathogenic
SLC26A4
(W518G)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 4
GLikely pathogenic
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