"Fulgent Genetics, Fulgent Genetics"[submitter] AND "DNAI2"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 408964	NM_023036.6(DNAI2):c.115G>A (p.Glu39Lys)	DNAI2 (E39K)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +2 more	GUncertain significance
Select item 408965	NM_023036.6(DNAI2):c.317A>T (p.Tyr106Phe)	DNAI2 (Y106F)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 889225	NM_023036.6(DNAI2):c.535G>T (p.Ala179Ser)	DNAI2 (A179S)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 9	GUncertain significance
Select item 454938	NM_023036.6(DNAI2):c.589G>A (p.Asp197Asn)	DNAI2 (D197N)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 9 +1 more	GUncertain significance
Select item 525359	NM_023036.6(DNAI2):c.718C>T (p.Gln240Ter)	DNAI2 (Q240*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 1496671	NM_023036.6(DNAI2):c.787C>G (p.Arg263Gly)	DNAI2 (R263G)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 9 +1 more	GUncertain significance
Select item 571617	NM_023036.6(DNAI2):c.978A>T (p.Glu326Asp)	DNAI2 (E326D)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 9 +1 more	GUncertain significance
Select item 325016	NM_023036.6(DNAI2):c.1000A>G (p.Met334Val)	DNAI2 (M334V)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 9 +1 more	GUncertain significance
Select item 977559	NM_023036.6(DNAI2):c.1130C>T (p.Pro377Leu)	DNAI2 (P377L)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 567344	NM_023036.6(DNAI2):c.1153G>A (p.Asp385Asn)	DNAI2 (D385N)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 9 +2 more	GUncertain significance
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 445505	NM_023036.6(DNAI2):c.1327G>A (p.Asp443Asn)	DNAI2 (D443N)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +2 more	GUncertain significance
Select item 454933	NM_023036.6(DNAI2):c.1414C>T (p.Gln472Ter)	DNAI2 (Q472* +1 more)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia 9 +1 more	GPathogenic/Likely pathogenic
Select item 454935	NM_023036.6(DNAI2):c.1663A>G (p.Ile555Val)	DNAI2 (I555V +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance