KNOP1[gene] and "single gene"[properties] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3116132	NM_001012991.3(KNOP1):c.1289G>A (p.Arg430Gln)	KNOP1 (R407Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403260	NM_001012991.3(KNOP1):c.1288C>T (p.Arg430Trp)	KNOP1 (R407W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290819	NM_001012991.3(KNOP1):c.1277G>T (p.Trp426Leu)	KNOP1 (W403L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282324	NM_001012991.3(KNOP1):c.1265G>A (p.Arg422Gln)	KNOP1 (R422Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289218	NM_001012991.3(KNOP1):c.1199C>T (p.Pro400Leu)	KNOP1 (P400L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598400	NM_001012991.3(KNOP1):c.1174C>T (p.Arg392Cys)	KNOP1 (R452C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116131	NM_001012991.3(KNOP1):c.1147T>C (p.Phe383Leu)	KNOP1 (F383L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519563	NM_001012991.3(KNOP1):c.1114C>G (p.Gln372Glu)	KNOP1 (Q349E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116138	NM_001012991.3(KNOP1):c.961A>G (p.Asn321Asp)	KNOP1 (N321D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116137	NM_001012991.3(KNOP1):c.949G>A (p.Glu317Lys)	KNOP1 (E317K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208293	NM_001012991.3(KNOP1):c.878A>G (p.Lys293Arg)	KNOP1 (K353R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116136	NM_001012991.3(KNOP1):c.844G>A (p.Glu282Lys)	KNOP1 (E282K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357579	NM_001012991.3(KNOP1):c.758C>T (p.Pro253Leu)	KNOP1 (P313L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2398221	NM_001012991.3(KNOP1):c.703A>G (p.Met235Val)	KNOP1 (M235V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252353	NM_001012991.3(KNOP1):c.635T>G (p.Val212Gly)	KNOP1 (V212G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394099	NM_001012991.3(KNOP1):c.626A>G (p.Asn209Ser)	KNOP1 (N209S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2456821	NM_001012991.3(KNOP1):c.599G>A (p.Arg200Gln)	KNOP1 (R260Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116134	NM_001012991.3(KNOP1):c.567G>T (p.Lys189Asn)	KNOP1 (K249N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462204	NM_001012991.3(KNOP1):c.517G>A (p.Glu173Lys)	KNOP1 (E173K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456256	NM_001012991.3(KNOP1):c.461A>G (p.Glu154Gly)	KNOP1 (E154G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116133	NM_001012991.3(KNOP1):c.443T>C (p.Leu148Pro)	KNOP1 (L148P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262138	NM_001012991.3(KNOP1):c.424A>C (p.Thr142Pro)	KNOP1 (T202P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280173	NM_001012991.3(KNOP1):c.403C>G (p.Pro135Ala)	KNOP1 (P195A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289217	NM_001012991.3(KNOP1):c.280G>C (p.Glu94Gln)	KNOP1 (E154Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454944	NM_001012991.3(KNOP1):c.260C>T (p.Thr87Met)	KNOP1 (T147M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3289219	NM_001012991.3(KNOP1):c.131T>C (p.Leu44Ser)	KNOP1 (L104S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232087	NM_001012991.3(KNOP1):c.127C>T (p.Pro43Ser)	KNOP1 (P103S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2599853	NM_001012991.3(KNOP1):c.20A>G (p.Lys7Arg)	KNOP1 (K67R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493089	NM_001012991.3(KNOP1):c.18C>A (p.His6Gln)	KNOP1 (H66Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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Items: 29