"Victorian Clinical Genetics Services, Murdoch Childrens Research Inst - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1064608	NM_022124.6(CDH23):c.1291-1G>A	CDH23	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 12 +1 more	GPathogenic
Select item 162894	NM_022124.6(CDH23):c.2236G>A (p.Val746Ile)	CDH23 (V746I)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +4 more	GConflicting classifications of pathogenicity
Select item 618010	NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys)	CDH23 (E1006K)	Single nucleotide variant (missense variant)	Pituitary adenoma 5, multiple types +5 more	GPathogenic/Likely pathogenic
Select item 300430	NM_022124.6(CDH23):c.4147G>A (p.Asp1383Asn)	CDH23, C10orf105 (D1383N)	Single nucleotide variant (missense variant +1 more)	Nonsyndromic Hearing Loss, Recessive +3 more	GUncertain significance
Select item 4916	NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln)	CDH23 (R1746Q)	Single nucleotide variant (missense variant)	Pituitary adenoma 5, multiple types +9 more	GPathogenic
Select item 1699473	NM_022124.6(CDH23):c.6379G>T (p.Val2127Phe)	CDH23 (V2127F)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12	GLikely pathogenic
Select item 1064609	NM_022124.6(CDH23):c.6555G>T (p.Glu2185Asp)	CDH23 (E2185D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1805315	NM_022124.6(CDH23):c.9246_9247del (p.Phe3083fs)	CDH23 (F3083fs +1 more)	Microsatellite (frameshift variant)	Usher syndrome type 1D +1 more	GPathogenic