"PreventionGenetics, part of Exact Sciences"[submitter] AND "NEK9"[gen - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 710224	NM_033116.6(NEK9):c.2442+4A>G	NEK9	Single nucleotide variant (intron variant)	NEK9-related disorder +1 more	GLikely benign
Select item 2507642	NM_033116.6(NEK9):c.1850G>A (p.Arg617Gln)	NEK9 (R617Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2038281	NM_033116.6(NEK9):c.1840+2T>C	NEK9	Single nucleotide variant (splice donor variant)	NEK9-related disorder +1 more	GLikely pathogenic
Select item 3057288	NM_033116.6(NEK9):c.1326T>C (p.Thr442=)	NEK9	Single nucleotide variant (synonymous variant)	NEK9-related disorder	GLikely benign
Select item 2644374	NM_033116.6(NEK9):c.861G>A (p.Ser287=)	NEK9	Single nucleotide variant (synonymous variant)	NEK9-related disorder +1 more	GLikely benign
Select item 3029222	NM_033116.6(NEK9):c.360C>T (p.Asp120=)	NEK9	Single nucleotide variant (synonymous variant)	NEK9-related disorder	GLikely benign
Select item 741729	NM_033116.6(NEK9):c.264G>C (p.Leu88=)	NEK9	Single nucleotide variant (synonymous variant +1 more)	NEK9-related disorder +1 more	GBenign
Select item 730012	NM_033116.6(NEK9):c.250G>A (p.Asp84Asn)	NEK9 (D84N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 3029481	NM_033116.6(NEK9):c.153C>T (p.His51=)	NEK9	Single nucleotide variant (synonymous variant +1 more)	NEK9-related disorder	GLikely benign
Select item 726555	NM_033116.6(NEK9):c.59G>A (p.Ser20Asn)	NEK9 (S20N)	Single nucleotide variant (missense variant +1 more)	NEK9-related disorder +1 more	GLikely benign