ClinVar for MedGen (Select 1393107) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2434855	NM_173494.2(DNAAF6):c.125A>G (p.Glu42Gly)	DNAAF6 (E42G)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 36, X-linked	GUncertain significance
Select item 1705566	NM_173494.2(DNAAF6):c.430-1G>A	DNAAF6	Single nucleotide variant (splice acceptor variant)	Ciliary dyskinesia, primary, 36, X-linked	GLikely pathogenic
Select item 917481	NM_173494.2(DNAAF6):c.290G>T (p.Gly97Val)	DNAAF6 (G97V)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 36, X-linked	GPathogenic
Select item 870123	NM_173494.2(DNAAF6):c.322_332del (p.Glu108Valfs)	DNAAF6	Deletion (splice donor variant)	Ciliary dyskinesia, primary, 36, X-linked	GPathogenic
Select item 771062	NM_173494.2(DNAAF6):c.244G>A (p.Glu82Lys)	DNAAF6 (E82K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 562215	NM_173494.2(DNAAF6):c.502C>T (p.Arg168Cys)	DNAAF6 (R168C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 375563	NM_173494.2(DNAAF6):c.355C>T (p.Gln119Ter)	DNAAF6 (Q119*)	Single nucleotide variant (nonsense)	Ciliary dyskinesia, primary, 36, X-linked	GPathogenic
Select item 375562	NM_173494.2(DNAAF6):c.357_363del (p.Val120fs)	DNAAF6 (V120fs)	Deletion (frameshift variant)	Ciliary dyskinesia, primary, 36, X-linked	GPathogenic

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