ClinVar for MedGen (Select 1801596) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064722	NM_001367805.3(KIF23):c.1324A>G (p.Arg442Gly)	KIF23 (R318G +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital dyserythropoietic anemia, type III	GUncertain significance
Select item 2689313	NM_001367805.3(KIF23):c.2479C>T (p.Arg827Cys)	KIF23 (R709C +2 more)	Single nucleotide variant (missense variant +2 more)	Congenital dyserythropoietic anemia, type III	GUncertain significance
Select item 2689312	NM_001367805.3(KIF23):c.999C>A (p.Asp333Glu)	KIF23 (D209E +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital dyserythropoietic anemia, type III	GUncertain significance
Select item 2689311	NM_001367805.3(KIF23):c.844G>A (p.Val282Ile)	KIF23 (V158I +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital dyserythropoietic anemia, type III	GUncertain significance
Select item 2689310	NM_001367805.3(KIF23):c.2089G>C (p.Val697Leu)	KIF23 (V573L +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital dyserythropoietic anemia, type III	GUncertain significance
Select item 2582639	NM_001367805.3(KIF23):c.2482T>A (p.Ser828Thr)	KIF23 (S710T +2 more)	Single nucleotide variant (missense variant +2 more)	Congenital dyserythropoietic anemia, type III	GUncertain significance
Select item 2433147	NM_001367805.3(KIF23):c.1400G>A (p.Arg467Lys)	KIF23 (R343K +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital dyserythropoietic anemia, type III	GUncertain significance
Select item 2433146	NM_001367805.3(KIF23):c.211A>G (p.Thr71Ala)	KIF23 (T71A)	Single nucleotide variant (synonymous variant +2 more)	Congenital dyserythropoietic anemia, type III	GUncertain significance
Select item 2433144	NM_001367805.3(KIF23):c.1664A>G (p.Gln555Arg)	KIF23 (Q431R +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital dyserythropoietic anemia, type III	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	GUncertain significance
Select item 2433142	NM_001367805.3(KIF23):c.2242C>T (p.Pro748Ser)	KIF23 (P624S +2 more)	Single nucleotide variant (missense variant +2 more)	Congenital dyserythropoietic anemia, type III	GUncertain significance
Select item 2433141	NM_001367805.3(KIF23):c.952G>T (p.Val318Leu)	KIF23 (V194L +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital dyserythropoietic anemia, type III	GUncertain significance
Select item 2433140	NM_001367805.3(KIF23):c.2501T>C (p.Val834Ala)	KIF23 (V716A +2 more)	Single nucleotide variant (missense variant +2 more)	Congenital dyserythropoietic anemia, type III	GUncertain significance
Select item 2433139	NM_001367805.3(KIF23):c.2237A>C (p.Lys746Thr)	KIF23 (K622T +2 more)	Single nucleotide variant (missense variant +2 more)	Congenital dyserythropoietic anemia, type III	GUncertain significance
Select item 2433138	NM_001367805.3(KIF23):c.1358C>G (p.Ala453Gly)	KIF23 (A329G +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital dyserythropoietic anemia, type III	GUncertain significance
Select item 2433136	NM_001367805.3(KIF23):c.2452C>T (p.Pro818Ser)	KIF23 (P700S +2 more)	Single nucleotide variant (missense variant +2 more)	Congenital dyserythropoietic anemia, type III	GUncertain significance
Select item 2433135	NM_001367805.3(KIF23):c.2222C>T (p.Ser741Leu)	KIF23 (S617L +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2429081	NM_001367805.3(KIF23):c.1801C>T (p.Arg601Cys)	KIF23 (R477C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2074166	NM_001367805.3(KIF23):c.497A>C (p.Glu166Ala)	KIF23 (E166A +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital dyserythropoietic anemia, type III +1 more	GLikely benign
Select item 2067021	NM_001367805.3(KIF23):c.2334A>T (p.Arg778Ser)	KIF23 (R654S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1988895	NM_001367805.3(KIF23):c.537G>A (p.Met179Ile)	KIF23 (M179I +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital dyserythropoietic anemia, type III +1 more	GUncertain significance
Select item 1896615	NM_001367805.3(KIF23):c.560G>A (p.Ser187Asn)	KIF23 (S187N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1693650	NM_001367805.3(KIF23):c.2089G>A (p.Val697Ile)	KIF23 (V573I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1344522	NM_001367805.3(KIF23):c.2875del (p.Leu959fs)	KIF23 (L751fs +3 more)	Deletion (frameshift variant +2 more)	Congenital dyserythropoietic anemia, type III	GPathogenic
Select item 1344521	NM_001367805.3(KIF23):c.2789C>G (p.Pro930Arg)	KIF23 (P916R +3 more)	Single nucleotide variant (missense variant +2 more)	Congenital dyserythropoietic anemia, type III	GPathogenic
Select item 1163575	NM_001367805.3(KIF23):c.2246C>T (p.Thr749Met)	KIF23 (T625M +2 more)	Single nucleotide variant (missense variant +2 more)	Congenital dyserythropoietic anemia, type III +1 more	GUncertain significance

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Items: 27