"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "CDH23"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 45859	NM_022124.6(CDH23):c.1061G>A (p.Ser354Asn)	CDH23 (S354N)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 2501245	NM_022124.6(CDH23):c.1152C>A (p.Ser384Arg)	CDH23 (S384R)	Single nucleotide variant (missense variant)	Usher syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2683112	NM_022124.6(CDH23):c.1316A>T (p.Asp439Val)	CDH23 (D439V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1195934	NM_022124.6(CDH23):c.5030G>A (p.Gly1677Asp)	CDH23 (G1677D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 46032	NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys)	CDH23 (E2490K +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +4 more	GConflicting classifications of pathogenicity
Select item 178315	NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr)	CDH23, PSAP (I3210T +2 more)	Single nucleotide variant (missense variant)	Atypical Gaucher Disease +8 more	GConflicting classifications of pathogenicity
Select item 94085	NM_002778.4(PSAP):c.1351-14A>G	CDH23, PSAP	Single nucleotide variant (intron variant)	not specified +9 more	GBenign/Likely benign
Select item 258809	NM_002778.4(PSAP):c.1350+5G>A	CDH23, PSAP	Single nucleotide variant (intron variant)	not specified +10 more	GBenign/Likely benign

ClinVar