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Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USH2A
(C3307W)
Single nucleotide variant
(missense variant)
Usher syndrome
GUncertain significance
USH2A-AS1, USH2A
(G1301V)
Single nucleotide variant
Usher syndrome
GBenign
ADGRV1
(D4707Y)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 1
GLikely pathogenic
ADGRV1
(Q5459H)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
PCDH15
(T1869del +8 more)
Microsatellite
(inframe_deletion +1 more)
Usher syndrome type 1D
+4 more
GBenign
PCDH15
(R245* +3 more)
Single nucleotide variant
(nonsense)
Rare genetic deafness
+5 more
GPathogenic
PCDH15
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive nonsyndromic hearing loss 23
GPathogenic
PCDH15
(Y6fs)
Deletion
(frameshift variant)
Rare genetic deafness
+2 more
GPathogenic/Likely pathogenic
CDH23, CDH23-AS1
(L65fs)
Deletion
(frameshift variant)
not provided
GPathogenic
CDH23
(R1060W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
C10orf105, CDH23
(T1209A)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome
GBenign
CDH23
(R3043W +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 12
+4 more
GUncertain significance
CDH23
(R3189W +2 more)
Single nucleotide variant
(missense variant)
Usher syndrome
GUncertain significance
USH1C
Microsatellite
(intron variant)
Usher syndrome type 1C
GPathogenic
USH1C
(R80fs)
Duplication
(frameshift variant +1 more)
Rare genetic deafness
+6 more
GPathogenic
USH1C
Single nucleotide variant
(synonymous variant +1 more)
Rare genetic deafness
+5 more
GPathogenic
MYO7A
(D64fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
MYO7A
(G519D +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 2
+5 more
GPathogenic/Likely pathogenic
MYO7A
(L651P +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
Gnot provided
MYO7A
Single nucleotide variant
(splice acceptor variant)
not provided
+4 more
GPathogenic
MYO7A
(A771S +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
Gnot provided
MYO7A
(R1240Q +1 more)
Single nucleotide variant
(missense variant)
MYO7A-related condition
+8 more
GPathogenic
MYO7A
(R1602Q +2 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
MYO7A
(R2024* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 2
+4 more
GPathogenic
MYO7A
(L2186P +2 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
Gnot provided
CIB2
(E64D +1 more)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 1J
GPathogenic
USH1G
(S175fs +1 more)
Deletion
(frameshift variant)
Usher syndrome type 1G
GPathogenic
USH1G
(V29fs +1 more)
Duplication
(frameshift variant)
Usher syndrome type 1G
GPathogenic
USH1G
(L16V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
USH1C
Protein only
Usher syndrome type 1
GLikely pathogenic
MYO7A
Protein only
Usher syndrome type 1
GPathogenic
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