ClinVar for MedGen (Select 1684675) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066105	NM_001454.4(FOXJ1):c.913dup (p.Leu305fs)	FOXJ1 (L305fs)	Duplication (frameshift variant)	Ciliary dyskinesia, primary, 43	GLikely pathogenic
Select item 3065691	NM_001454.4(FOXJ1):c.722T>C (p.Leu241Pro)	FOXJ1 (L241P)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 43	GUncertain significance
Select item 2664712	NM_001454.4(FOXJ1):c.403C>G (p.Gln135Glu)	FOXJ1 (Q135E)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 43	GUncertain significance
Select item 1803205	NM_001454.4(FOXJ1):c.1015G>A (p.Ala339Thr)	FOXJ1 (A339T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 800281	NM_001454.4(FOXJ1):c.967del (p.Glu323fs)	FOXJ1 (E323fs)	Deletion (frameshift variant)	Ciliary dyskinesia, primary, 43	GPathogenic
Select item 800280	NM_001454.4(FOXJ1):c.826C>T (p.Gln276Ter)	FOXJ1 (Q276*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 800279	NM_001454.4(FOXJ1):c.868_871dup (p.Thr291fs)	FOXJ1 (T291fs)	Duplication (frameshift variant)	Ciliary dyskinesia, primary, 43	GPathogenic
Select item 800278	NM_001454.4(FOXJ1):c.901G>T (p.Glu301Ter)	FOXJ1 (E301*)	Single nucleotide variant (nonsense)	Ciliary dyskinesia, primary, 43	GPathogenic

ClinVar