C1832845[trait identifier] AND "Institute of Medical Genetics and Appl - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4933	NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)	PCDH15 (R245* +3 more)	Single nucleotide variant (nonsense)	Rare genetic deafness +5 more	GPathogenic
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 1697267	NM_022124.6(CDH23):c.3220+1G>A	CDH23	Single nucleotide variant (splice donor variant)	not provided +2 more	GLikely pathogenic
Select item 4917	NM_022124.6(CDH23):c.3839TGA[1] (p.Met1281del)	C10orf105, CDH23 (M1281del)	Microsatellite (inframe_deletion +1 more)	Usher syndrome type 1D	GLikely pathogenic
Select item 1697268	NM_022124.6(CDH23):c.5369-1G>A	CDH23	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 1 +1 more	GLikely pathogenic
Select item 46001	NM_022124.6(CDH23):c.6050-9G>A	CDH23	Single nucleotide variant (intron variant)	Rare genetic deafness +4 more	GPathogenic
Select item 4918	NM_022124.6(CDH23):c.7362+5G>A	CDH23	Single nucleotide variant (intron variant)	Rare genetic deafness +3 more	GPathogenic

ClinVar