"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 166997	NM_178452.6(DNAAF1):c.546C>G (p.Asn182Lys)	DNAAF1 (N182K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 13 +2 more	GConflicting classifications of pathogenicity
Select item 242156	NM_178452.6(DNAAF1):c.1031-5A>T	DNAAF1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 13 +2 more	GConflicting classifications of pathogenicity
Select item 226572	NM_178452.6(DNAAF1):c.1178A>G (p.Lys393Arg)	DNAAF1 (K393R +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 226573	NM_178452.6(DNAAF1):c.1296G>C (p.Glu432Asp)	DNAAF1 (E432D +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 226575	NM_178452.6(DNAAF1):c.1505C>T (p.Pro502Leu)	DNAAF1 (P502L +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 13 +3 more	GBenign
Select item 163086	NM_178452.6(DNAAF1):c.1794C>G (p.Leu598=)	DNAAF1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +3 more	GBenign

ClinVar