"Counsyl"[submitter] AND "DNAI2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 226611	NM_023036.6(DNAI2):c.234G>A (p.Glu78=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
Select item 228613	NM_023036.6(DNAI2):c.571C>T (p.Pro191Ser)	DNAI2 (P191S)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 261658	NM_023036.6(DNAI2):c.933G>A (p.Lys311=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 228335	NM_023036.6(DNAI2):c.1304G>A (p.Trp435Ter)	DNAI2 (W435*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia 9 +2 more	GPathogenic/Likely pathogenic
Select item 241451	NM_023036.6(DNAI2):c.1600G>A (p.Asp534Asn)	DNAI2 (D534N +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 163170	NM_023036.6(DNAI2):c.1644C>A (p.Ala548=)	DNAI2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 9 +3 more	GBenign
Select item 551962	NM_023036.6(DNAI2):c.1723-1G>T	DNAI2	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia 9 +2 more	GConflicting classifications of pathogenicity

ClinVar