ClinVar for MedGen (Select 816014) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2071804	NM_021254.4(CFAP298):c.673C>T (p.Gln225Ter)	CFAP298, CFAP298-TCP10L (Q126* +1 more)	Single nucleotide variant (nonsense +2 more)	Primary ciliary dyskinesia 26 +1 more	GPathogenic
Select item 1299358	NM_021254.4(CFAP298):c.160C>T (p.His54Tyr)	CFAP298, CFAP298-TCP10L (H54Y)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia 26	GUncertain significance
Select item 869379	NM_021254.4(CFAP298):c.721C>T (p.Gln241Ter)	CFAP298, CFAP298-TCP10L (Q142* +1 more)	Single nucleotide variant (nonsense +2 more)	Primary ciliary dyskinesia 26	GPathogenic
Select item 525239	NM_021254.4(CFAP298):c.557_566dup (p.Gln190fs)	CFAP298, CFAP298-TCP10L (Q91fs +1 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 209002	NM_021254.4(CFAP298):c.735C>G (p.Tyr245Ter)	CFAP298, CFAP298-TCP10L (Y245* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 88690	NM_021254.4(CFAP298):c.792_795del (p.Ala263_Tyr264insTer)	CFAP298-TCP10L, CFAP298	Deletion (nonsense +2 more)	Primary ciliary dyskinesia 26	GPathogenic
Select item 88689	NM_021254.4(CFAP298):c.292C>T (p.Arg98Ter)	CFAP298-TCP10L, CFAP298 (R98*)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic/Likely pathogenic

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