C2675229[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 666983	NM_001010892.3(RSPH4A):c.116C>A (p.Ser39Ter)	LOC129997052, RSPH4A (S39*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 11 +2 more	GPathogenic/Likely pathogenic
Select item 949766	NM_001010892.3(RSPH4A):c.902A>C (p.Gln301Pro)	RSPH4A (Q301P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 11 +1 more	GUncertain significance
Select item 88863	NM_001010892.3(RSPH4A):c.921+3_921+6del	RSPH4A	Deletion (splice donor variant)	not provided +2 more	GPathogenic
Select item 66993	NM_001010892.3(RSPH4A):c.1270del (p.Thr424fs)	RSPH4A (T424fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 11	GPathogenic
Select item 1400514	NM_001010892.3(RSPH4A):c.1340T>C (p.Val447Ala)	RSPH4A (V447A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GUncertain significance
Select item 454520	NM_001010892.3(RSPH4A):c.1351C>T (p.Gln451Ter)	RSPH4A (Q451*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 11 +2 more	GPathogenic
Select item 441117	NM_001010892.3(RSPH4A):c.1662+2_1662+5del	RSPH4A	Deletion (splice donor variant)	Primary ciliary dyskinesia +1 more	GPathogenic

ClinVar