"Ambry Genetics"[submitter] AND "KIF23"[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3114685	NM_001367805.3(KIF23):c.89G>T (p.Cys30Phe)	KIF23 (C30F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2303568	NM_001367805.3(KIF23):c.89G>A (p.Cys30Tyr)	KIF23 (C30Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1533388	NM_001367805.3(KIF23):c.100C>A (p.Pro34Thr)	KIF23 (P34T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3114675	NM_001367805.3(KIF23):c.121G>A (p.Glu41Lys)	KIF23 (E41K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1915743	NM_001367805.3(KIF23):c.134A>T (p.Glu45Val)	KIF23 (E45V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 3114680	NM_001367805.3(KIF23):c.266T>G (p.Phe89Cys)	KIF23 (F89C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1902449	NM_001367805.3(KIF23):c.364A>G (p.Met122Val)	KIF23 (M122V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2317393	NM_001367805.3(KIF23):c.389G>A (p.Gly130Glu)	KIF23 (G130E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2317973	NM_001367805.3(KIF23):c.412A>G (p.Met138Val)	KIF23 (M138V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2515808	NM_001367805.3(KIF23):c.517C>T (p.Arg173Cys)	KIF23 (R63C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2236494	NM_001367805.3(KIF23):c.559A>G (p.Ser187Gly)	KIF23 (S77G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288538	NM_001367805.3(KIF23):c.786A>T (p.Gln262His)	KIF23 (Q248H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114684	NM_001367805.3(KIF23):c.810G>T (p.Lys270Asn)	KIF23 (K256N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397579	NM_001367805.3(KIF23):c.877G>A (p.Val293Ile)	KIF23 (V169I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288536	NM_001367805.3(KIF23):c.1139C>T (p.Thr380Met)	KIF23 (T380M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2433143	NM_001367805.3(KIF23):c.1228C>G (p.Leu410Val)	KIF23 (L286V +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital dyserythropoietic anemia, type III +1 more	GUncertain significance
Select item 2555497	NM_001367805.3(KIF23):c.1323G>C (p.Met441Ile)	KIF23 (M317I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114676	NM_001367805.3(KIF23):c.1393C>T (p.Pro465Ser)	KIF23 (P451S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397772	NM_001367805.3(KIF23):c.1408A>G (p.Arg470Gly)	KIF23 (R456G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342254	NM_001367805.3(KIF23):c.1492G>A (p.Glu498Lys)	KIF23 (E374K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597070	NM_001367805.3(KIF23):c.1508A>G (p.Asn503Ser)	KIF23 (N379S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397801	NM_001367805.3(KIF23):c.1510G>A (p.Asp504Asn)	KIF23 (D380N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531727	NM_001367805.3(KIF23):c.1541C>T (p.Ala514Val)	KIF23 (A500V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550451	NM_001367805.3(KIF23):c.1553G>A (p.Arg518Gln)	KIF23 (R504Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531728	NM_001367805.3(KIF23):c.1556A>G (p.His519Arg)	KIF23 (H395R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236493	NM_001367805.3(KIF23):c.1634A>G (p.Asn545Ser)	KIF23 (N545S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2465671	NM_001367805.3(KIF23):c.1719A>T (p.Glu573Asp)	KIF23 (E573D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3114677	NM_001367805.3(KIF23):c.1736A>G (p.Asn579Ser)	KIF23 (N565S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299064	NM_001367805.3(KIF23):c.1787A>G (p.Tyr596Cys)	KIF23 (Y596C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2168698	NM_001367805.3(KIF23):c.1805A>G (p.Asn602Ser)	KIF23 (N588S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2175752	NM_001367805.3(KIF23):c.1864C>T (p.Arg622Cys)	KIF23 (R608C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3114678	NM_001367805.3(KIF23):c.1900G>A (p.Glu634Lys)	KIF23 (E510K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591934	NM_001367805.3(KIF23):c.1904C>T (p.Thr635Met)	KIF23 (T635M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1981855	NM_001367805.3(KIF23):c.1931A>T (p.Glu644Val)	KIF23 (E520V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3288537	NM_001367805.3(KIF23):c.1934G>A (p.Arg645His)	KIF23 (R631H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397786	NM_001367805.3(KIF23):c.2018C>T (p.Thr673Ile)	KIF23 (T659I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397695	NM_001367805.3(KIF23):c.2066G>A (p.Arg689Gln)	KIF23 (R565Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2164946	NM_001367805.3(KIF23):c.2179C>T (p.Arg727Cys)	KIF23 (R603C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 3114679	NM_001367805.3(KIF23):c.2257C>G (p.Pro753Ala)	KIF23 (P739A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2387588	NM_001367805.3(KIF23):c.2266G>C (p.Val756Leu)	KIF23 (V632L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2397726	NM_001367805.3(KIF23):c.2285G>A (p.Arg762His)	KIF23 (R638H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2258954	NM_001367805.3(KIF23):c.2323G>T (p.Val775Leu)	KIF23 (V761L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2397803	NM_001367805.3(KIF23):c.2446G>A (p.Ala816Thr)	KIF23 (A816T +2 more)	Single nucleotide variant (missense variant +2 more)	Congenital dyserythropoietic anemia, type III +1 more	GUncertain significance
Select item 3288535	NM_001367805.3(KIF23):c.2619G>C (p.Met873Ile)	KIF23 (M755I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3114681	NM_001367805.3(KIF23):c.2722G>A (p.Asp908Asn)	KIF23 (D894N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114683	NM_001367805.3(KIF23):c.2759G>A (p.Ser920Asn)	KIF23 (S906N +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2287382	NM_001367805.3(KIF23):c.2768G>A (p.Arg923Gln)	KIF23 (R923Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Items: 47