C4539783[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 209005	NM_015512.5(DNAH1):c.3460A>C (p.Lys1154Gln)	DNAH1 (K1154Q)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +1 more	GLikely pathogenic
Select item 430858	NM_015512.5(DNAH1):c.3860T>G (p.Val1287Gly)	DNAH1 (V1287G)	Single nucleotide variant (missense variant)	Spermatogenic failure 18	GPathogenic
Select item 430856	NM_015512.5(DNAH1):c.3877G>A (p.Asp1293Asn)	DNAH1 (D1293N)	Single nucleotide variant (missense variant)	DNAH1-related condition +2 more	GUncertain significance
Select item 430857	NM_015512.5(DNAH1):c.8626-1G>A	DNAH1	Single nucleotide variant (splice acceptor variant)	Spermatogenic failure 18	GPathogenic
Select item 430860	NM_015512.5(DNAH1):c.11726_11727del (p.Pro3909fs)	DNAH1 (P3909fs)	Deletion (frameshift variant)	Spermatogenic failure 18	GPathogenic
Select item 430855	NM_015512.5(DNAH1):c.11788-1G>A	DNAH1	Single nucleotide variant (splice acceptor variant)	Spermatogenic failure 18	GPathogenic
Select item 586974	NM_144668.6(CFAP251):c.3007-4915_3338-930del	CFAP251, LOC124849266	Deletion (splice acceptor variant +1 more)	Spermatogenic failure 33 +1 more	GPathogenic

ClinVar