Related gene-specific medical variations for Gene (Select 85452) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3266534	NM_001304360.2(CFAP74):c.107G>A (p.Cys36Tyr)	CFAP74, LOC126805578 (C36Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266530	NM_001304360.2(CFAP74):c.172A>G (p.Thr58Ala)	CFAP74, LOC126805578 (T58A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3143670	NM_001304360.2(CFAP74):c.277C>T (p.Leu93Phe)	CFAP74, LOC126805578 (L93F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613523	NM_001304360.2(CFAP74):c.215C>T (p.Thr72Met)	CFAP74, LOC126805578 (T72M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2524989	NM_001304360.2(CFAP74):c.233G>A (p.Arg78Gln)	CFAP74, LOC126805578 (R78Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341004	NM_001304360.2(CFAP74):c.247G>A (p.Ala83Thr)	CFAP74, LOC126805578 (A83T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2273744	NM_001304360.2(CFAP74):c.199A>T (p.Thr67Ser)	CFAP74, LOC126805578 (T67S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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