"OMIM"[submitter] AND "DNAH8"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 984743	NM_001206927.2(DNAH8):c.380_381del (p.Lys127fs)	DNAH8, LOC126859667 (K127fs)	Deletion (frameshift variant +1 more)	Spermatogenic failure 46	GPathogenic
Select item 157595	NM_001206927.2(DNAH8):c.2419C>T (p.Arg807Ter)	DNAH8 (R590* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 984739	NM_001206927.2(DNAH8):c.6689A>G (p.Lys2230Arg)	DNAH8 (K2230R +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 46	GPathogenic
Select item 984742	NM_001206927.2(DNAH8):c.6962_6968del (p.His2321fs)	DNAH8 (H2104fs +1 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 641999	NM_001206927.2(DNAH8):c.9427C>T (p.Arg3143Cys)	DNAH8, DNAH8-AS1 (R2926C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 402771	NM_001206927.2(DNAH8):c.11771C>T (p.Thr3924Met)	DNAH8, DNAH8-AS1 (T3924M +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 700134	NM_001206927.2(DNAH8):c.12721G>A (p.Ala4241Thr)	DNAH8 (A4241T +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign

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