U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PCDH15
(R245* +3 more)
Single nucleotide variant
(nonsense)
Usher syndrome type 1F
+5 more
GPathogenic
CDH23
(R1771*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic/Likely pathogenic
USH1C
Deletion
(splice acceptor variant)
not provided
GPathogenic
USH1C
(R80fs)
Duplication
(frameshift variant +1 more)
Usher syndrome
+6 more
GPathogenic
MYO7A
Single nucleotide variant
(splice donor variant)
Autosomal recessive nonsyndromic hearing loss 2
+3 more
GPathogenic/Likely pathogenic
MYO7A
(G214R +1 more)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+5 more
GPathogenic
MYO7A
(Q234* +1 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 2
+3 more
GPathogenic
MYO7A
(S372fs +1 more)
Duplication
(frameshift variant)
Usher syndrome type 1
GPathogenic
MYO7A
(K420* +1 more)
Single nucleotide variant
(nonsense)
not provided
+4 more
GPathogenic
MYO7A
Single nucleotide variant
(splice donor variant)
Autosomal recessive nonsyndromic hearing loss 2
GLikely pathogenic
MYO7A
Single nucleotide variant
(splice donor variant)
not provided
+5 more
GPathogenic/Likely pathogenic
MYO7A
(N758fs +1 more)
Deletion
(frameshift variant)
Usher syndrome type 1
+1 more
GPathogenic
MYO7A
(A826T +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome
GUncertain significance
MYO7A
(Q1088* +1 more)
Single nucleotide variant
(nonsense)
Usher syndrome type 1
+2 more
GPathogenic/Likely pathogenic
MYO7A
(G1298R +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome
+3 more
GPathogenic/Likely pathogenic
MYO7A
(Q1652fs +2 more)
Insertion
(frameshift variant)
Usher syndrome type 1
GPathogenic
MYO7A
(R1861* +2 more)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
MYO7A
(Q2066* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 2
+2 more
GPathogenic/Likely pathogenic
USH1G
(L69fs)
Duplication
(frameshift variant +1 more)
Usher syndrome type 1
GPathogenic
Format
Items per page
Sort by
Choose Destination