"ODAD1-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 11

	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 406184	NM_001364171.2(ODAD1):c.1629CGC[5] (p.Ala547dup)	ODAD1	Microsatellite (inframe_insertion)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 2040086	NM_001364171.2(ODAD1):c.1240+9C>A	ODAD1	Single nucleotide variant (intron variant)	ODAD1-related disorder +1 more	GLikely benign
Select item 2062729	NM_001364171.2(ODAD1):c.912C>T (p.Tyr304=)	ODAD1	Single nucleotide variant (synonymous variant)	ODAD1-related disorder +1 more	GLikely benign
Select item 3047267	NM_001364171.2(ODAD1):c.854-7C>T	ODAD1	Single nucleotide variant (intron variant)	ODAD1-related disorder	GLikely benign
Select item 2630887	NM_001364171.2(ODAD1):c.813_816dup (p.Pro273fs)	ODAD1 (P236fs +1 more)	Duplication (frameshift variant)	ODAD1-related disorder	GLikely pathogenic
Select item 413797	NM_001364171.2(ODAD1):c.808G>A (p.Asp270Asn)	ODAD1 (D233N +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GBenign
Select item 454972	NM_001364171.2(ODAD1):c.556G>T (p.Asp186Tyr)	ODAD1 (D149Y +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GLikely benign
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 697565	NM_001364171.2(ODAD1):c.225C>T (p.Ser75=)	ODAD1	Single nucleotide variant (synonymous variant)	ODAD1-related disorder +1 more	GLikely benign
Select item 3045001	NM_001364171.2(ODAD1):c.38A>G (p.Glu13Gly)	ODAD1 (E13G)	Single nucleotide variant (missense variant)	ODAD1-related disorder	GLikely benign