"NEI Ophthalmic Genomics Laboratory, National Institutes of Health"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 46042	NM_022124.6(CDH23):c.7C>T (p.Arg3Cys)	CDH23 (R3C)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 4927	NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala)	C10orf105, CDH23 (T1209A)	Single nucleotide variant (missense variant +1 more)	Usher syndrome	GBenign FDA Recognized database
Select item 45944	NM_022124.6(CDH23):c.4310G>A (p.Arg1437Gln)	CDH23 (R1437Q)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 45960	NM_022124.6(CDH23):c.5023G>A (p.Val1675Ile)	CDH23 (V1675I)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 46019	NM_022124.6(CDH23):c.6847G>A (p.Val2283Ile)	CDH23 (V2283I +1 more)	Single nucleotide variant (genic upstream transcript variant +1 more)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GBenign/Likely benign
Select item 100590	NM_022124.6(CDH23):c.8411A>G (p.Lys2804Arg)	CDH23 (K2804R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 46072	NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu)	CDH23, PSAP (F3125L +1 more)	Single nucleotide variant (missense variant +1 more)	Atypical Gaucher Disease +9 more	GBenign/Likely benign

ClinVar