"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ODAD1"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1682854	NM_001364171.2(ODAD1):c.2004dup (p.Gly669fs)	ODAD1 (G632fs +1 more)	Duplication (frameshift variant)	Primary ciliary dyskinesia +2 more	GUncertain significance
Select item 662204	NM_001364171.2(ODAD1):c.1822C>T (p.His608Tyr)	ODAD1 (H608Y +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 20 +1 more	GUncertain significance
Select item 39640	NM_001364171.2(ODAD1):c.1502+5G>A	ODAD1	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 525427	NM_001364171.2(ODAD1):c.1198C>T (p.Arg400Cys)	ODAD1 (R363C +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 20 +1 more	GConflicting classifications of pathogenicity
Select item 953164	NM_001364171.2(ODAD1):c.991G>A (p.Glu331Lys)	ODAD1 (E294K +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 20 +1 more	GUncertain significance
Select item 39637	NM_001364171.2(ODAD1):c.853G>A (p.Ala285Thr)	ODAD1 (A248T +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 20 +2 more	GPathogenic
Select item 406183	NM_001364171.2(ODAD1):c.498_499insCGT (p.Phe166_Asp167insArg)	ODAD1	Insertion (inframe_insertion)	Primary ciliary dyskinesia +2 more	GUncertain significance
Select item 241874	NM_001364171.2(ODAD1):c.266G>C (p.Arg89Pro)	ODAD1 (R52P +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign