ClinVar for MedGen (Select 1646063) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1192638	NM_001039706.3(CFAP69):c.2654C>T (p.Thr885Met)	CFAP69 (T819M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1192637	NM_001039706.3(CFAP69):c.2562C>G (p.Ser854Arg)	CFAP69 (S788R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1192636	NM_001039706.3(CFAP69):c.1857+47T>A	CFAP69	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1192635	NM_001039706.3(CFAP69):c.1468G>A (p.Val490Met)	CFAP69 (V472M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1192634	NM_001039706.3(CFAP69):c.682+50A>C	CFAP69	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 626909	NM_001039706.3(CFAP69):c.647G>A (p.Trp216Ter)	CFAP69 (W216* +1 more)	Single nucleotide variant (nonsense)	Spermatogenic failure 24	GPathogenic
Select item 626908	NM_001039706.3(CFAP69):c.1069_1070insAC (p.Leu357fs)	CFAP69 (L357fs +1 more)	Insertion (frameshift variant)	Spermatogenic failure 24	GPathogenic
Select item 523227	NM_001039706.3(CFAP69):c.763C>T (p.Gln255Ter)	CFAP69 (Q255* +1 more)	Single nucleotide variant (nonsense)	Spermatogenic failure 24	GPathogenic
Select item 523226	NM_001039706.3(CFAP69):c.860+1G>A	CFAP69	Single nucleotide variant (splice donor variant)	Spermatogenic failure 24	GPathogenic

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