"Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg"[subm - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1036908	NM_002497.4(NEK2):c.1307T>C (p.Leu436Pro)	NEK2 (L436P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1461787	NM_002497.4(NEK2):c.775C>T (p.Arg259Ter)	NEK2 (R259*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3249536	NM_002497.4(NEK2):c.493A>T (p.Ile165Leu)	NEK2 (I165L)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1020287	NM_002497.4(NEK2):c.401G>A (p.Gly134Asp)	NEK2 (G134D)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 3249132	NM_002497.4(NEK2):c.202G>A (p.Val68Ile)	NEK2 (V68I)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1491837	NM_002497.4(NEK2):c.50G>A (p.Gly17Asp)	LOC129932452, NEK2 (G17D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar