6392[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 more	Copy number gain	See cases	GPathogenic
Select item 57140	GRCh38/hg38 15q23-24.1(chr15:68830574-73823337)x1	ADPGK, ADPGK-AS1 +196 more	Copy number loss	See cases	GPathogenic
Select item 157350	NM_001104554.1(PAQR5):c.88_39158dup	KIF23, KIF23-AS1 +3 more	Duplication	Large for gestational age	Gnot provided
Select item 1693648	NM_001367805.3(KIF23):c.-29C>T	KIF23, KIF23-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2005908	NM_001367805.3(KIF23):c.11+8C>A	KIF23, KIF23-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2834647	NM_001367805.3(KIF23):c.11+17C>G	KIF23, KIF23-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1239833	NM_001367805.3(KIF23):c.11+62_11+82dup	KIF23, KIF23-AS1 +1 more	Duplication (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1931316	NM_001367805.3(KIF23):c.12-19T>A	KIF23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2024461	NM_001367805.3(KIF23):c.12-15T>C	KIF23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962449	NM_001367805.3(KIF23):c.12-3_12-2dup	KIF23	Duplication (splice acceptor variant)	not provided	GUncertain significance
Select item 754232	NM_001367805.3(KIF23):c.27C>T (p.Pro9=)	KIF23	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2973171	NM_001367805.3(KIF23):c.57A>G (p.Gln19=)	KIF23	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2066160	NM_001367805.3(KIF23):c.59C>T (p.Thr20Met)	KIF23 (T20M)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2817334	NM_001367805.3(KIF23):c.63C>A (p.Asn21Lys)	KIF23 (N21K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1668257	NM_001367805.3(KIF23):c.63C>T (p.Asn21=)	KIF23	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2175905	NM_001367805.3(KIF23):c.76G>A (p.Val26Ile)	KIF23 (V26I)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 779893	NM_001367805.3(KIF23):c.81+6G>A	KIF23	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1274067	NM_001367805.3(KIF23):c.82-36G>A	KIF23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2918503	NM_001367805.3(KIF23):c.84A>G (p.Val28=)	KIF23	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
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 1182474	NM_001367805.3(KIF23):c.108C>A (p.Gly36=)	KIF23	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
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	GUncertain significance
Select item 720141	NM_001367805.3(KIF23):c.143A>G (p.Asn48Ser)	KIF23 (N48S)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 1599600	NM_001367805.3(KIF23):c.152C>T (p.Thr51Ile)	KIF23 (T51I)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 3054710	NM_001367805.3(KIF23):c.168T>C (p.Thr56=)	KIF23	Single nucleotide variant (5 prime UTR variant +2 more)	KIF23-related disorder	GLikely benign
Select item 2162453	NM_001367805.3(KIF23):c.203A>G (p.Tyr68Cys)	KIF23 (I4V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2697792	NM_001367805.3(KIF23):c.210+15G>A	KIF23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899100	NM_001367805.3(KIF23):c.211-13dup	KIF23	Duplication (intron variant)	not provided	GBenign
Select item 2990048	NM_001367805.3(KIF23):c.211-17_211-13del	KIF23	Deletion (intron variant)	not provided	GLikely benign
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 1325939	NM_001367805.3(KIF23):c.213T>C (p.Thr71=)	KIF23 (L7P)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 2068634	NM_001367805.3(KIF23):c.221C>T (p.Ser74Leu)	KIF23 (S74L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 710300	NM_001367805.3(KIF23):c.230A>G (p.Gln77Arg)	KIF23 (K13E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
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 728886	NM_001367805.3(KIF23):c.274G>C (p.Val92Leu)	KIF23 (L27F +1 more)	Single nucleotide variant (missense variant +1 more)	KIF23-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2109403	NM_001367805.3(KIF23):c.286T>C (p.Leu96=)	KIF23	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 774916	NM_001367805.3(KIF23):c.293A>G (p.Asn98Ser)	KIF23 (N98S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1916003	NM_001367805.3(KIF23):c.305A>G (p.His102Arg)	KIF23 (M38V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2160240	NM_001367805.3(KIF23):c.313A>T (p.Asn105Tyr)	KIF23 (K40N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1903790	NM_001367805.3(KIF23):c.316+4T>C	KIF23	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2060909	NM_001367805.3(KIF23):c.317-4G>A	KIF23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 784326	NM_001367805.3(KIF23):c.333T>C (p.Tyr111=)	KIF23	Single nucleotide variant (synonymous variant +2 more)	KIF23-related disorder +1 more	GBenign
Select item 3002458	NM_001367805.3(KIF23):c.357T>G (p.Thr119=)	KIF23	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1902449	NM_001367805.3(KIF23):c.364A>G (p.Met122Val)	KIF23 (M122V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2999296	NM_001367805.3(KIF23):c.379G>A (p.Gly127Arg)	KIF23 (G127R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2083906	NM_001367805.3(KIF23):c.385G>A (p.Gly129Arg)	KIF23 (G129R)	Single nucleotide variant (missense variant +2 more)	not provided	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 2979060	NM_001367805.3(KIF23):c.453+18G>C	KIF23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2903713	NM_001367805.3(KIF23):c.454-10C>T	KIF23	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2683319	NM_001367805.3(KIF23):c.500T>C (p.Val167Ala)	KIF23 (V167A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 3009039	NM_001367805.3(KIF23):c.551C>G (p.Thr184Ser)	KIF23 (T74S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2909426	NM_001367805.3(KIF23):c.553TCT[1] (p.Ser187del)	KIF23 (S77del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided	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 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 2722713	NM_001367805.3(KIF23):c.563+6del	KIF23	Deletion (intron variant)	not provided	GUncertain significance
Select item 3004325	NM_001367805.3(KIF23):c.563+12T>C	KIF23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268611	NM_001367805.3(KIF23):c.564-235C>G	KIF23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178864	NM_001367805.3(KIF23):c.564-63G>T	KIF23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 768717	NM_001367805.3(KIF23):c.564-10C>T	KIF23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 733232	NM_001367805.3(KIF23):c.564-10del	KIF23	Deletion (intron variant)	not provided	GBenign
Select item 2968735	NM_001367805.3(KIF23):c.621A>C (p.Ala207=)	KIF23	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2889062	NM_001367805.3(KIF23):c.636A>G (p.Glu212=)	KIF23	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1392631	NM_001367805.3(KIF23):c.655T>C (p.Phe219Leu)	KIF23 (F109L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2054206	NM_001367805.3(KIF23):c.660C>T (p.Val220=)	KIF23	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 726646	NM_001367805.3(KIF23):c.690A>G (p.Ile230Met)	KIF23 (I120M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 717526	NM_001367805.3(KIF23):c.699A>G (p.Leu233=)	KIF23	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1520770	NM_001367805.3(KIF23):c.713C>T (p.Pro238Leu)	KIF23 (P128L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2894688	NM_001367805.3(KIF23):c.731C>G (p.Pro244Arg)	KIF23 (P134R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1989375	NM_001367805.3(KIF23):c.734+13G>C	KIF23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1991417	NM_001367805.3(KIF23):c.777-12dup	KIF23	Duplication (intron variant)	not provided	GBenign
Select item 3023192	NM_001367805.3(KIF23):c.777-14T>C	KIF23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2702690	NM_001367805.3(KIF23):c.777A>G (p.Val259=)	KIF23	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 402143	NM_001367805.3(KIF23):c.797T>A (p.Leu266His)	KIF23 (L252H +2 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly	GLikely pathogenic
Select item 2746272	NM_001367805.3(KIF23):c.798T>A (p.Leu266=)	KIF23	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
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 2880974	NM_001367805.3(KIF23):c.835T>A (p.Cys279Ser)	KIF23 (C265S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1976188	NM_001367805.3(KIF23):c.843A>C (p.Glu281Asp)	KIF23 (E157D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 2966300	NM_001367805.3(KIF23):c.861T>C (p.Thr287=)	KIF23	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1964755	NM_001367805.3(KIF23):c.907A>G (p.Ile303Val)	KIF23 (I289V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1693649	NM_001367805.3(KIF23):c.928C>T (p.Arg310Cys)	KIF23 (R186C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2973806	NM_001367805.3(KIF23):c.929G>A (p.Arg310His)	KIF23 (R186H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 2971235	NM_001367805.3(KIF23):c.971T>C (p.Val324Ala)	KIF23 (V310A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2715727	NM_001367805.3(KIF23):c.975G>A (p.Gln325=)	KIF23	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1916513	NM_001367805.3(KIF23):c.988G>A (p.Ala330Thr)	KIF23 (A206T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 2201949	NM_001367805.3(KIF23):c.1001A>G (p.Asn334Ser)	KIF23 (N210S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2745537	NM_001367805.3(KIF23):c.1008A>G (p.Leu336=)	KIF23	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2965518	NM_001367805.3(KIF23):c.1011+15T>C	KIF23	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1987848	NM_001367805.3(KIF23):c.1012-17C>T	KIF23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2029737	NM_001367805.3(KIF23):c.1012-7T>G	KIF23	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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