ClinVar for OMIM (Select 608075) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2578000	NM_006687.4(ACTL7A):c.463C>T (p.Arg155Ter)	ACTL7A	Single nucleotide variant (nonsense)	Spermatogenic failure 86	GPathogenic
Select item 2577999	NM_006687.4(ACTL7A):c.733G>A (p.Ala245Thr)	ACTL7A	Single nucleotide variant (missense variant)	Spermatogenic failure 86	GPathogenic
Select item 2577998	NM_001097.3(ACR):c.167G>A (p.Trp56Ter)	ACR	Single nucleotide variant (nonsense)	Spermatogenic failure 87	GPathogenic
Select item 2443714	NM_001031836.3(KCNU1):c.1237A>T (p.Ile413Phe)	KCNU1	Single nucleotide variant (missense variant +1 more)	Spermatogenic failure 79	GPathogenic
Select item 1048627	NM_178525.5(ACTL9):c.1209C>G (p.Tyr403Ter)	ACTL9 (Y403*)	Single nucleotide variant (nonsense)	Spermatogenic failure 53	GPathogenic
Select item 1048626	NM_178525.5(ACTL9):c.1138G>T (p.Val380Leu)	ACTL9 (V380L)	Single nucleotide variant (missense variant)	Spermatogenic failure 53	GPathogenic
Select item 1048625	NM_178525.5(ACTL9):c.1034C>T (p.Ser345Leu)	ACTL9 (S345L)	Single nucleotide variant (missense variant)	Spermatogenic failure 53	GPathogenic

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