"PreventionGenetics, part of Exact Sciences"[submitter] AND "ODAD3"[ge - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 241943	NM_145045.5(ODAD3):c.1705G>T (p.Val569Leu)	ODAD3 (V569L +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30 +1 more	GBenign/Likely benign
Select item 2085036	NM_145045.5(ODAD3):c.1590+9C>T	ODAD3	Single nucleotide variant (intron variant)	ODAD3-related disorder +1 more	GLikely benign
Select item 2198199	NM_145045.5(ODAD3):c.1557G>A (p.Val519=)	ODAD3	Single nucleotide variant (synonymous variant)	ODAD3-related disorder +1 more	GLikely benign
Select item 699092	NM_145045.5(ODAD3):c.1401G>A (p.Glu467=)	ODAD3	Single nucleotide variant (synonymous variant)	ODAD3-related disorder +1 more	GLikely benign
Select item 544217	NM_145045.5(ODAD3):c.1115A>T (p.His372Leu)	ODAD3 (H372L +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30 +1 more	GLikely benign
Select item 2631363	NM_145045.5(ODAD3):c.1109_1113del (p.Glu370fs)	ODAD3 (E310fs +2 more)	Deletion (frameshift variant)	ODAD3-related disorder	GLikely pathogenic
Select item 2882265	NM_145045.5(ODAD3):c.900C>T (p.Tyr300=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30 +1 more	GLikely benign
Select item 2631783	NM_145045.5(ODAD3):c.794T>C (p.Leu265Pro)	ODAD3 (L205P +2 more)	Single nucleotide variant (missense variant)	ODAD3-related disorder	GUncertain significance
Select item 744550	NM_145045.5(ODAD3):c.726C>G (p.Leu242=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30 +1 more	GLikely benign
Select item 1682781	NM_145045.5(ODAD3):c.612+8C>T	ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30 +1 more	GLikely benign
Select item 262567	NM_145045.5(ODAD3):c.366+7=	ODAD3	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1224193	NM_001289104.2(PRKCSH):c.-78+38T>C	ODAD3, PRKCSH (K10E)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 3040071	NM_001289104.2(PRKCSH):c.-78+74G>A	ODAD3, PRKCSH	Single nucleotide variant (5 prime UTR variant +1 more)	ODAD3-related disorder	GLikely benign