C0008780[trait identifier] AND "Equipe Genetique des Anomalies du Deve - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 837909	NM_001277115.2(DNAH11):c.3595del (p.Leu1199fs)	DNAH11 (L1199fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 7 +1 more	GPathogenic
Select item 198347	NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His)	DNAH11 (R3491H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +11 more	GConflicting classifications of pathogenicity
Select item 66990	NM_080860.4(RSPH1):c.275-2A>C	RSPH1	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia 24 +3 more	GPathogenic

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