ClinVar for MedGen (Select 934688) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690771	NM_031421.5(ODAD4):c.1630G>T (p.Asp544Tyr)	ODAD4 (D544Y)	Single nucleotide variant (3 prime UTR variant +2 more)	Primary ciliary dyskinesia 35	GLikely pathogenic
Select item 1325249	NM_031421.5(ODAD4):c.316C>T (p.Arg106Ter)	ODAD4 (R106*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia 35	GLikely pathogenic
Select item 1184300	NM_031421.5(ODAD4):c.1993_1997del (p.Asn665fs)	ODAD4 (N665fs)	Deletion (3 prime UTR variant +2 more)	Primary ciliary dyskinesia 35	GUncertain significance
Select item 1034109	NM_031421.5(ODAD4):c.340C>T (p.Arg114Trp)	ODAD4 (R114W)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 35	GUncertain significance
Select item 869383	NM_031421.5(ODAD4):c.245del (p.Lys82fs)	ODAD4 (K82fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia 35	GPathogenic
Select item 800740	NM_031421.5(ODAD4):c.158G>A (p.Arg53His)	ODAD4 (R53H)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 35	GUncertain significance
Select item 254128	NM_031421.5(ODAD4):c.425_426insT (p.Lys142fs)	ODAD4 (K142fs)	Insertion (frameshift variant +1 more)	Primary ciliary dyskinesia 35	GPathogenic
Select item 254127	NM_031421.5(ODAD4):c.114+1G>T	ODAD4	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia 35	GPathogenic

ClinVar