ClinVar for MedGen (Select 1648465) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3598846	NM_032930.3(CFAP300):c.40T>C (p.Phe14Leu)	CFAP300 (F14L)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 38	GUncertain significance
Select item 3340161	NM_032930.3(CFAP300):c.353A>G (p.Asp118Gly)	CFAP300 (D118G)	Single nucleotide variant (missense variant +1 more)	Ciliary dyskinesia, primary, 38	GLikely pathogenic
Select item 3024078	NM_032930.3(CFAP300):c.175A>T (p.Lys59Ter)	CFAP300 (K59*)	Single nucleotide variant (nonsense)	Ciliary dyskinesia, primary, 38	GLikely pathogenic
Select item 1676321	NC_000011.10:g.102066646C>T	CFAP300 (R144*)	Single nucleotide variant	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1192590	NM_032930.3(CFAP300):c.110+16A>G	CFAP300	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1178298	NM_032930.3(CFAP300):c.192+59A>C	CFAP300	Single nucleotide variant (intron variant)	Ciliary dyskinesia, primary, 38 +1 more	GBenign
Select item 807552	NM_032930.3(CFAP300):c.200del (p.Phe67fs)	CFAP300 (F67fs)	Deletion (frameshift variant)	Ciliary dyskinesia, primary, 38	GPathogenic
Select item 549862	NM_032930.3(CFAP300):c.198_200delinsCC (p.Phe67fs)	CFAP300 (F67fs)	Indel (frameshift variant)	not provided +1 more	GPathogenic
Select item 549861	NM_032930.3(CFAP300):c.433A>T (p.Arg145Ter)	CFAP300 (R145*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 549860	NM_032930.3(CFAP300):c.154C>T (p.Gln52Ter)	CFAP300 (Q52*)	Single nucleotide variant (nonsense)	Ciliary dyskinesia, primary, 38	GPathogenic
Select item 549859	NM_032930.3(CFAP300):c.361C>T (p.Arg121Ter)	CFAP300 (R121*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 549858	NM_032930.3(CFAP300):c.776A>G (p.His259Arg)	CFAP300 (H259R +1 more)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 38	GPathogenic