ClinVar for MedGen (Select 1824064) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582617	NM_001304360.2(CFAP74):c.2303T>G (p.Val768Gly)	CFAP74 (V768G)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 49, without situs inversus	GUncertain significance
Select item 2443737	NM_001304360.2(CFAP74):c.1706dup (p.Gly570fs)	CFAP74 (G570fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2443736	NM_001304360.2(CFAP74):c.907del (p.Gln303fs)	CFAP74 (Q303fs)	Deletion (frameshift variant)	Ciliary dyskinesia, primary, 49, without situs inversus	GPathogenic
Select item 2443735	NM_001304360.2(CFAP74):c.4380_4381dup (p.Phe1461fs)	CFAP74 (F1461fs)	Microsatellite (frameshift variant)	Ciliary dyskinesia, primary, 49, without situs inversus	GLikely pathogenic
Select item 2443734	NM_001304360.2(CFAP74):c.4331G>C (p.Ser1444Thr)	CFAP74	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 49, without situs inversus	GPathogenic
Select item 2443733	NM_001304360.2(CFAP74):c.652C>T (p.Arg218Trp)	CFAP74	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 49, without situs inversus	GPathogenic
Select item 2443732	NM_001304360.2(CFAP74):c.3532G>A (p.Asp1178Asn)	CFAP74	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 49, without situs inversus	GPathogenic
Select item 2443731	NM_001304360.2(CFAP74):c.983G>A (p.Gly328Asp)	CFAP74	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 49, without situs inversus	GPathogenic