ClinVar for MedGen (Select 868587) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 635007	NM_004651.3(USP11):c.1599G>A (p.Thr533=)	USP11	Single nucleotide variant	Dynein arm defect of respiratory motile cilia +3 more	GLikely pathogenic
Select item 455029	NM_213607.3(DNAAF19):c.568_569dup (p.Ser190fs)	DNAAF19 (S190fs)	Microsatellite (frameshift variant +1 more)	Primary ciliary dyskinesia	GLikely pathogenic