Table 2. Variants of uncertain significance in known PCD genes through CNV and WES analysis.

Family	Patient	Ethnicity	Sex	Age at Dx	Situs Status	Ciliary EM	nNO nL/min	Gene	hg 19 Genomic coordinates	Transcript	Exon/ Intron	Base Changes	Predicted Effect	Segregation
Compound heterozygous, likely pathogenic (solved)
114	9	White	M	4 yr	S	ODA+IDAa	13.4	DYX1C1	Chr15: 55727162	NM_130810.3	Ex 8	c.988C > T	p.R330W	Maternal
								DYX1C1	Chr15: 55729606-	NM_130810.3	Int 7	Ex 7 2.1Kb del (6)		Paternal
									55731727		Ex 7
132	21	White	M	6 yr	I	Normal	4.9	DNAH11	Chr7: 21847620	NM_001277115.1	Ex 63	c.10285C > A	p.R3429S	Unknown
								DNAH11	Chr7: 21604615-	NM_001277115.1	Int 6	Ex7-14 32.29Kb dup		Unknown
									21636907		Int 14
Homozygous VUS
142	51	Sri Lankan Tamil	F	18 yr	S	Inconclusive	14.5	DNAH11	Chr7: 21639487	NM_001277115.1	Ex 15	c.2750A > T	p.E917V	Unknown
								DNAH11	Chr7: 21847621	NM_001277115.1	Ex 63	c.10286G > T	p.R3429L	Unknown
136	44	Portuguese	M	8 yr	S	Normal	20.1	DNAAF3	Chr19: 55670702	NM_001256714.1	Ex 12	c.1555G > C	p.A519P	Unknown
Single VUS
134	38	Hispanic	M	15 yr	S	Normal	17	DNAH11	Chr7: 21940666	NM_001277115.1	Ex 82	c.13345C > T	p.R4449C	Unknown

Genomic coordinates are approximate for copy number variations. Further clinical characteristics previously described (Kim et al. 2014). Previously described mutations are in bold (6) (Tarkar et al. 2013). Cases with two VUS, likely pathogenic were considered solved cases. PCD, primary ciliary dyskinesia; CNV, copy number variation; WES, whole-exome sequencing; Dx, diagnosis; EM, electron microscopy; M, male; S, situs solitus; I, situs inversus; ODA, outer dynein arms, IDA inner dynein arms; F, female; inconclusive = adequate sample inconclusive EM.

^aRevised after pathology review.