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Links from MedGen

Items: 1 to 100 of 214

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USH1C
(E96*)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive nonsyndromic hearing loss 18A
GLikely pathogenic
USH1C
(I167fs)
Deletion
(frameshift variant +1 more)
Autosomal recessive nonsyndromic hearing loss 18A
GLikely pathogenic
USH1C
(F237fs)
Deletion
(frameshift variant +1 more)
Autosomal recessive nonsyndromic hearing loss 18A
GLikely pathogenic
USH1C
(M37fs)
Deletion
(frameshift variant +1 more)
Autosomal recessive nonsyndromic hearing loss 18A
Gno classifications from unflagged records
USH1C
(W355* +1 more)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive nonsyndromic hearing loss 18A
Gno classifications from unflagged records
USH1C
Deletion
(splice acceptor variant)
Autosomal recessive nonsyndromic hearing loss 18A
Gno classifications from unflagged records
USH1C
(K119fs)
Deletion
(frameshift variant +1 more)
Autosomal recessive nonsyndromic hearing loss 18A
Gno classifications from unflagged records
USH1C
(C521* +2 more)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive nonsyndromic hearing loss 18A
Gno classifications from unflagged records
USH1C
(Q328fs +1 more)
Deletion
(frameshift variant +1 more)
Autosomal recessive nonsyndromic hearing loss 18A
Gno classifications from unflagged records
USH1C
(Q315* +1 more)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive nonsyndromic hearing loss 18A
Gno classifications from unflagged records
USH1C
(G488fs +2 more)
Deletion
(frameshift variant +1 more)
Autosomal recessive nonsyndromic hearing loss 18A
GLikely pathogenic
USH1C
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive nonsyndromic hearing loss 18A
Gno classifications from unflagged records
USH1C
(D24fs)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
USH1C
(E347fs +1 more)
Deletion
(frameshift variant +1 more)
Autosomal recessive nonsyndromic hearing loss 18A
+1 more
GPathogenic/Likely pathogenic
USH1C
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive nonsyndromic hearing loss 18A
Gno classifications from unflagged records
USH1C
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive nonsyndromic hearing loss 18A
Gno classifications from unflagged records
USH1C
(T181fs)
Deletion
(frameshift variant +1 more)
Autosomal recessive nonsyndromic hearing loss 18A
Gno classifications from unflagged records
USH1C
(Q321* +1 more)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive nonsyndromic hearing loss 18A
Gno classifications from unflagged records
USH1C
(E349fs +1 more)
Duplication
(frameshift variant +1 more)
Autosomal recessive nonsyndromic hearing loss 18A
Gno classifications from unflagged records
USH1C
(Y526* +2 more)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive nonsyndromic hearing loss 18A
Gno classifications from unflagged records
USH1C
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
USH1C
(Q257*)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive nonsyndromic hearing loss 18A
Gno classifications from unflagged records
USH1C
Single nucleotide variant
(splice donor variant)
Autosomal recessive nonsyndromic hearing loss 18A
Gno classifications from unflagged records
USH1C
Single nucleotide variant
(synonymous variant +2 more)
Autosomal recessive nonsyndromic hearing loss 18A
GUncertain significance
USH1C
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive nonsyndromic hearing loss 18A
GLikely pathogenic
USH1C
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
USH1C
(E287fs +1 more)
Indel
(frameshift variant +1 more)
not provided
GPathogenic
USH1C
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
USH1C
Single nucleotide variant
(splice donor variant)
Usher syndrome type 1C
+2 more
GLikely pathogenic
USH1C
(C145Y)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+1 more
GUncertain significance
USH1C
(C224Y)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 18A
GUncertain significance
USH1C
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive nonsyndromic hearing loss 18A
GLikely pathogenic
USH1C
(R220*)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive nonsyndromic hearing loss 18A
+1 more
GPathogenic/Likely pathogenic
USH1C
(H116fs)
Deletion
(frameshift variant +1 more)
Autosomal recessive nonsyndromic hearing loss 18A
+1 more
GPathogenic
USH1C
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 18A
+1 more
GLikely pathogenic
USH1C
(R598H)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 1
+3 more
GUncertain significance
USH1C
(R438C +2 more)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome
+3 more
GConflicting classifications of pathogenicity
USH1C
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 18A
+2 more
GBenign
USH1C
Single nucleotide variant
(intron variant)
Usher syndrome type 1C
+2 more
GBenign
USH1C
Single nucleotide variant
(intron variant)
Usher syndrome type 1C
+2 more
GBenign
USH1C
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 18A
+2 more
GBenign
USH1C
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
USH1C
(E325* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
USH1C
(S125fs)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
USH1C
(R80fs)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
USH1C
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic/Likely pathogenic
USH1C
Deletion
(splice acceptor variant +1 more)
not provided
GLikely pathogenic
USH1C
(R196*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
USH1C
(T637S)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 18A
GUncertain significance
USH1C
(H376Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 18A
+3 more
GUncertain significance
USH1C
(R438H +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 18A
+3 more
GUncertain significance
USH1C
(R473W +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
USH1C
(G121S)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 18A
+4 more
GUncertain significance
USH1C
(E801* +2 more)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive nonsyndromic hearing loss 18A
+1 more
GPathogenic/Likely pathogenic
USH1C
(H793Y +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GUncertain significance
USH1C
Single nucleotide variant
(5 prime UTR variant +1 more)
Usher syndrome type 1C
+2 more
GUncertain significance
USH1C
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GLikely benign
USH1C
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 18A
+2 more
GBenign
USH1C
Single nucleotide variant
(intron variant)
Usher syndrome type 1C
+2 more
GBenign
USH1C
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
USH1C
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
USH1C
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
USH1C
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
USH1C
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
USH1C
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
USH1C
Single nucleotide variant
not provided
+2 more
GBenign
USH1C
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
USH1C
(W359* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
USH1C
Microsatellite
(frameshift variant +1 more)
Autosomal recessive nonsyndromic hearing loss 18A
GLikely pathogenic
USH1C
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive nonsyndromic hearing loss 18A
GPathogenic
USH1C
(E149K)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 18A
GLikely pathogenic
USH1C
(E455*)
Single nucleotide variant
(nonsense +1 more)
Usher syndrome type 1C
+1 more
GUncertain significance
USH1C
Single nucleotide variant
(intron variant +1 more)
Usher syndrome type 1C
+1 more
GUncertain significance
USH1C
(S624*)
Single nucleotide variant
(nonsense +1 more)
Usher syndrome type 1C
+1 more
GUncertain significance
USH1C
Single nucleotide variant
(splice donor variant)
Usher syndrome type 1C
+1 more
GLikely pathogenic
USH1C
(P609fs)
Deletion
(frameshift variant +1 more)
Usher syndrome type 1C
+1 more
GUncertain significance
USH1C
(T669fs)
Deletion
(frameshift variant +1 more)
Usher syndrome type 1C
+1 more
GUncertain significance
USH1C
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GLikely pathogenic
USH1C
Single nucleotide variant
(splice acceptor variant)
Usher syndrome type 1C
+1 more
GLikely pathogenic
USH1C
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
USH1C
Insertion
(intron variant +1 more)
not provided
+2 more
GUncertain significance
USH1C
Insertion
(intron variant +2 more)
Usher syndrome type 1C
+1 more
GUncertain significance
USH1C
(I603fs)
Deletion
(frameshift variant +1 more)
Usher syndrome type 1C
+1 more
GUncertain significance
USH1C
Single nucleotide variant
(splice donor variant)
Usher syndrome type 1C
+1 more
GLikely pathogenic
USH1C
Microsatellite
(inframe_insertion +1 more)
Usher syndrome type 1C
+1 more
GUncertain significance
USH1C
(I603fs)
Duplication
(frameshift variant +1 more)
Usher syndrome type 1C
+1 more
GUncertain significance
USH1C
(G406*)
Single nucleotide variant
(nonsense +1 more)
Usher syndrome type 1C
+1 more
GUncertain significance
USH1C
(C224*)
Single nucleotide variant
(nonsense +1 more)
Usher syndrome type 1C
+2 more
GPathogenic/Likely pathogenic
USH1C
(G422fs)
Deletion
(frameshift variant +1 more)
Usher syndrome type 1C
+1 more
GUncertain significance
USH1C
(P573fs)
Duplication
(frameshift variant +1 more)
Usher syndrome type 1C
+1 more
GUncertain significance
USH1C
Deletion
(inframe_deletion +1 more)
Usher syndrome type 1C
+1 more
GUncertain significance
USH1C
Single nucleotide variant
(splice donor variant)
Usher syndrome type 1C
+2 more
GLikely pathogenic
USH1C
(Y430*)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive nonsyndromic hearing loss 18A
+2 more
GConflicting classifications of pathogenicity
USH1C
(G200S)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 1C
+1 more
GUncertain significance
USH1C
Microsatellite
(inframe_deletion +1 more)
Usher syndrome type 1C
+1 more
GUncertain significance
USH1C
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GLikely pathogenic
USH1C
(Q364fs +1 more)
Duplication
(frameshift variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
USH1C
Single nucleotide variant
(intron variant)
Usher syndrome type 1C
+1 more
GUncertain significance
USH1C
(I457fs +2 more)
Duplication
(frameshift variant +1 more)
USH1C-related disorder
+3 more
GPathogenic/Likely pathogenic
USH1C
(R899fs)
Duplication
(3 prime UTR variant +2 more)
Usher syndrome type 1C
+1 more
GUncertain significance
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