"PreventionGenetics, part of Exact Sciences"[submitter] AND "CCDC65"[g - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 945038	NM_033124.5(CCDC65):c.147GGA[1] (p.Glu51del)	CCDC65 (E51del)	Microsatellite (inframe_deletion +1 more)	CCDC65-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3046255	NM_033124.5(CCDC65):c.420A>G (p.Glu140=)	CCDC65	Single nucleotide variant (5 prime UTR variant +1 more)	CCDC65-related disorder	GLikely benign
Select item 262220	NM_033124.5(CCDC65):c.505C>A (p.His169Asn)	CCDC65 (H169N +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 262221	NM_033124.5(CCDC65):c.880C>T (p.Arg294Cys)	CCDC65 (R294C +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 696195	NM_033124.5(CCDC65):c.1016T>C (p.Ile339Thr)	CCDC65 (I196T +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 27 +1 more	GLikely benign
Select item 1119658	NM_033124.5(CCDC65):c.1218A>G (p.Lys406=)	CCDC65	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 27 +1 more	GLikely benign
Select item 3044818	NM_033124.5(CCDC65):c.*8T>A	CCDC65	Single nucleotide variant (3 prime UTR variant)	CCDC65-related disorder	GBenign

ClinVar