C4551906[trait identifier] AND "Johns Hopkins Genomics, Johns Hopkins - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 66021	NM_015896.4(ZMYND10):c.47T>G (p.Val16Gly)	ZMYND10 (V16G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 22 +2 more	GPathogenic
Select item 5604	NM_012144.4(DNAI1):c.48+2dup	DNAI1	Duplication (splice donor variant)	not provided +3 more	GPathogenic
Select item 454836	NM_012144.4(DNAI1):c.389-1G>C	DNAI1 (G134R)	Single nucleotide variant (missense variant +1 more)	Kartagener syndrome +2 more	GConflicting classifications of pathogenicity
Select item 454837	NM_012144.4(DNAI1):c.476G>A (p.Ser159Asn)	DNAI1 (S159N +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1065572	NM_012144.4(DNAI1):c.1205G>A (p.Gly402Asp)	DNAI1 (G402D +1 more)	Single nucleotide variant (missense variant)	Kartagener syndrome +1 more	GUncertain significance
Select item 216677	NM_012144.4(DNAI1):c.1948C>T (p.Arg650Cys)	DNAI1 (R650C +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
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
Select item 66987	NM_080860.4(RSPH1):c.85G>T (p.Glu29Ter)	LOC126653391, RSPH1 (E29*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia +1 more	GPathogenic

ClinVar