Related gene-specific medical variations for Gene (Select 79858) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3299212	NM_024800.5(NEK11):c.1729C>A (p.Gln577Lys)	NEK11, NUDT16-DT (C396* +14 more)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 3191804	NM_024800.5(NEK11):c.1814G>C (p.Arg605Pro)	NEK11, NUDT16-DT (A425P +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480918	NM_024800.5(NEK11):c.1801G>A (p.Glu601Lys)	NEK11, NUDT16-DT (E417K +8 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2459364	NM_024800.5(NEK11):c.1813C>T (p.Arg605Cys)	NEK11, NUDT16-DT (R605C +8 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2405586	NM_024800.5(NEK11):c.1837C>T (p.Pro613Ser)	NEK11, NUDT16-DT (P429S +8 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2371185	NM_024800.5(NEK11):c.1885G>A (p.Glu629Lys)	NEK11, NUDT16-DT (E488K +8 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2260758	NM_024800.5(NEK11):c.1733A>G (p.Lys578Arg)	NEK11, NUDT16-DT (K430R +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 980056	GRCh37/hg19 3q22.1(chr3:130791550-130881409)x1	NEK11	Copy number loss	not provided	GUncertain significance

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