ClinVar for MedGen (Select 1742668) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2439022	NM_001008723.2(CFAP58):c.1360C>T (p.Gln454Ter)	CFAP58 (Q436* +1 more)	Single nucleotide variant (nonsense)	Spermatogenic failure 49	GLikely pathogenic
Select item 992193	NM_001008723.2(CFAP58):c.2274C>A (p.Tyr758Ter)	CFAP58 (Y758*)	Single nucleotide variant (nonsense)	Spermatogenic failure 49	GPathogenic
Select item 992192	NM_001008723.2(CFAP58):c.1696C>T (p.Gln566Ter)	CFAP58 (Q566*)	Single nucleotide variant (nonsense)	Spermatogenic failure 49	GPathogenic
Select item 992191	NM_001008723.2(CFAP58):c.2052del (p.His685fs)	CFAP58 (H685fs)	Deletion (frameshift variant)	Spermatogenic failure 49	GPathogenic
Select item 992190	NM_001008723.2(CFAP58):c.1429del (p.Lys476_Ile477insTer)	CFAP58	Deletion (nonsense)	Spermatogenic failure 49	GPathogenic
Select item 992189	NM_001008723.2(CFAP58):c.2092C>T (p.Arg698Ter)	CFAP58 (R698*)	Single nucleotide variant (nonsense)	Spermatogenic failure 49	GPathogenic

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