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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PCDH15
(T1869del +8 more)
Microsatellite
(inframe_deletion +1 more)
Autosomal recessive nonsyndromic hearing loss 23
+4 more
GBenign
PCDH15
(R245* +3 more)
Single nucleotide variant
(nonsense)
Rare genetic deafness
+5 more
GPathogenic
PCDH15
(E110fs +2 more)
Duplication
(frameshift variant)
Usher syndrome type 1G
Gnot provided
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
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