"Mendelics"[submitter] AND "PCDH15"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 227005	NM_001384140.1(PCDH15):c.5156A>C (p.Gln1719Pro)	PCDH15 (Q1661P +4 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 164914	NM_001384140.1(PCDH15):c.2884C>T (p.Arg962Cys)	PCDH15 (R962C +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +3 more	GConflicting classifications of pathogenicity
Select item 802573	NM_001384140.1(PCDH15):c.2645_2646del (p.Asp881_Tyr882insTer)	PCDH15	Deletion (nonsense)	not provided +2 more	GPathogenic
Select item 802574	NM_001384140.1(PCDH15):c.1863T>G (p.Tyr621Ter)	PCDH15 (Y626* +5 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 1686009	NM_001384140.1(PCDH15):c.1441-1G>T	PCDH15	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 1D	GPathogenic
Select item 46440	NM_001384140.1(PCDH15):c.1304A>C (p.Asp435Ala)	PCDH15 (D435A +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 46436	NM_001384140.1(PCDH15):c.1138G>A (p.Gly380Ser)	PCDH15 (G380S +3 more)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign

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