"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2428723	NM_145038.5(DRC1):c.116G>C (p.Arg39Pro)	DRC1 (R39P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 21	GUncertain significance
Select item 414288	NM_145038.5(DRC1):c.172T>C (p.Tyr58His)	DRC1 (Y58H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2045269	NM_145038.5(DRC1):c.765+15C>T	DRC1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 21 +1 more	GLikely benign
Select item 414293	NM_145038.5(DRC1):c.1710G>A (p.Ala570=)	DRC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 241938	NM_145038.5(DRC1):c.2001A>G (p.Thr667=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GBenign
Select item 525259	NM_145038.5(DRC1):c.2075C>G (p.Thr692Ser)	DRC1 (T692S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 21 +1 more	GConflicting classifications of pathogenicity

ClinVar