ClinVar for Gene (Select 3619) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3285999	NM_001040694.2(INCENP):c.2537C>A (p.Ala846Asp)	INCENP (A842D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285997	NM_001040694.2(INCENP):c.2449A>G (p.Ile817Val)	INCENP (I817V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285996	NM_001040694.2(INCENP):c.2540G>A (p.Arg847Gln)	INCENP (R847Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285995	NM_001040694.2(INCENP):c.2020C>T (p.Arg674Trp)	INCENP (R670W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285994	NM_001040694.2(INCENP):c.2089C>T (p.Arg697Trp)	INCENP (R693W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285993	NM_001040694.2(INCENP):c.560T>C (p.Met187Thr)	INCENP (M187T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285992	NM_001040694.2(INCENP):c.1735C>T (p.Arg579Cys)	INCENP (R579C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285991	NM_001040694.2(INCENP):c.998G>T (p.Arg333Leu)	INCENP (R333L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285990	NM_001040694.2(INCENP):c.1301C>T (p.Thr434Met)	INCENP (T434M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3285989	NM_001040694.2(INCENP):c.2173C>T (p.Arg725Trp)	INCENP (R721W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285988	NM_001040694.2(INCENP):c.2245G>A (p.Glu749Lys)	INCENP (E745K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109638	NM_001040694.2(INCENP):c.949G>A (p.Val317Ile)	INCENP (V317I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109637	NM_001040694.2(INCENP):c.938C>T (p.Pro313Leu)	INCENP (P313L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3109636	NM_001040694.2(INCENP):c.908T>G (p.Val303Gly)	INCENP (V303G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109635	NM_001040694.2(INCENP):c.622T>C (p.Ser208Pro)	INCENP (S208P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109634	NM_001040694.2(INCENP):c.416C>T (p.Ala139Val)	INCENP (A139V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109633	NM_001040694.2(INCENP):c.383C>T (p.Ala128Val)	INCENP (A128V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109632	NM_001040694.2(INCENP):c.274C>T (p.Arg92Trp)	INCENP (R92W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109631	NM_001040694.2(INCENP):c.2732T>G (p.Leu911Arg)	INCENP (L907R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109630	NM_001040694.2(INCENP):c.2713G>A (p.Ala905Thr)	INCENP (A905T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3109629	NM_001040694.2(INCENP):c.2711G>T (p.Gly904Val)	INCENP (G900V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109628	NM_001040694.2(INCENP):c.2660G>A (p.Arg887His)	INCENP (R883H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109626	NM_001040694.2(INCENP):c.2200G>A (p.Glu734Lys)	INCENP (E730K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109625	NM_001040694.2(INCENP):c.2138G>A (p.Arg713His)	INCENP (R709H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109624	NM_001040694.2(INCENP):c.2120G>T (p.Arg707Leu)	INCENP (R703L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109622	NM_001040694.2(INCENP):c.2075G>A (p.Arg692Gln)	INCENP (R688Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109621	NM_001040694.2(INCENP):c.2027G>A (p.Arg676Gln)	INCENP (R672Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109620	NM_001040694.2(INCENP):c.1849C>T (p.Arg617Trp)	INCENP (R617W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109619	NM_001040694.2(INCENP):c.16C>T (p.Pro6Ser)	INCENP (P6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109618	NM_001040694.2(INCENP):c.158C>T (p.Pro53Leu)	INCENP (P53L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109617	NM_001040694.2(INCENP):c.1486C>G (p.Leu496Val)	INCENP (L496V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109616	NM_001040694.2(INCENP):c.1477C>T (p.Arg493Trp)	INCENP (R493W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109613	NM_001040694.2(INCENP):c.1345A>G (p.Arg449Gly)	INCENP (R449G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109612	NM_001040694.2(INCENP):c.11C>T (p.Thr4Met)	INCENP (T4M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2641845	NM_001040694.2(INCENP):c.2139C>G (p.Arg713=)	INCENP	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2641844	NM_001040694.2(INCENP):c.2124G>C (p.Arg708=)	INCENP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641843	NM_001040694.2(INCENP):c.2094C>G (p.Arg698=)	INCENP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641842	NM_001040694.2(INCENP):c.1064-5C>G	INCENP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2641841	NM_001040694.2(INCENP):c.876G>A (p.Thr292=)	INCENP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641840	NM_001040694.2(INCENP):c.754C>T (p.Arg252Trp)	INCENP (R252W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2610892	NM_001040694.2(INCENP):c.2170C>T (p.Arg724Cys)	INCENP (R720C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608739	NM_001040694.2(INCENP):c.327G>T (p.Lys109Asn)	INCENP (K109N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602342	NM_001040694.2(INCENP):c.1045G>C (p.Ala349Pro)	INCENP (A349P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592297	NM_001040694.2(INCENP):c.2105G>A (p.Arg702Gln)	INCENP (R702Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589954	NM_001040694.2(INCENP):c.1913G>A (p.Arg638His)	INCENP (R638H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589532	NM_001040694.2(INCENP):c.121G>T (p.Ala41Ser)	INCENP (A41S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589359	NM_001040694.2(INCENP):c.2120G>A (p.Arg707Gln)	INCENP (R703Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540369	NM_001040694.2(INCENP):c.874A>G (p.Thr292Ala)	INCENP (T292A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532610	NM_001040694.2(INCENP):c.1154T>G (p.Val385Gly)	INCENP (V385G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528478	NM_001040694.2(INCENP):c.1748A>G (p.Gln583Arg)	INCENP (Q583R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528388	NM_001040694.2(INCENP):c.1111G>T (p.Val371Phe)	INCENP (V371F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519352	NM_001040694.2(INCENP):c.2189G>A (p.Arg730Gln)	INCENP (R726Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510731	NM_001040694.2(INCENP):c.194G>A (p.Arg65Gln)	INCENP (R65Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509565	NM_001040694.2(INCENP):c.296G>A (p.Arg99Gln)	INCENP (R99Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508426	NM_001040694.2(INCENP):c.568G>A (p.Glu190Lys)	INCENP (E190K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494663	NM_001040694.2(INCENP):c.293C>T (p.Ser98Phe)	INCENP (S98F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493364	NM_001040694.2(INCENP):c.841G>A (p.Val281Met)	INCENP (V281M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481784	NM_001040694.2(INCENP):c.496G>T (p.Val166Leu)	INCENP (V166L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477822	NM_001040694.2(INCENP):c.37G>A (p.Glu13Lys)	INCENP (E13K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471145	NM_001040694.2(INCENP):c.2488G>A (p.Asp830Asn)	INCENP (D826N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467106	NM_001040694.2(INCENP):c.2104C>T (p.Arg702Trp)	INCENP (R702W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455432	NM_001040694.2(INCENP):c.2588C>T (p.Pro863Leu)	INCENP (P859L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2408824	NM_001040694.2(INCENP):c.1828A>G (p.Thr610Ala)	INCENP (T606A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408694	NM_001040694.2(INCENP):c.2140G>A (p.Glu714Lys)	INCENP (E710K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408041	NM_001040694.2(INCENP):c.716C>T (p.Thr239Ile)	INCENP (T239I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407759	NM_001040694.2(INCENP):c.1387G>C (p.Glu463Gln)	INCENP (E463Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406298	NM_001040694.2(INCENP):c.2048G>A (p.Arg683Gln)	INCENP (R679Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406174	NM_001040694.2(INCENP):c.275G>A (p.Arg92Gln)	INCENP (R92Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402968	NM_001040694.2(INCENP):c.841G>T (p.Val281Leu)	INCENP (V281L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399742	NM_001040694.2(INCENP):c.1690C>T (p.Arg564Trp)	INCENP (R560W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397481	NM_001040694.2(INCENP):c.128G>A (p.Arg43His)	INCENP (R43H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395283	NM_001040694.2(INCENP):c.740G>T (p.Gly247Val)	INCENP (G247V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391433	NM_001040694.2(INCENP):c.1936C>T (p.Arg646Cys)	INCENP (R642C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390611	NM_001040694.2(INCENP):c.1448G>T (p.Cys483Phe)	INCENP (C483F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384833	NM_001040694.2(INCENP):c.2093G>A (p.Arg698His)	INCENP (R694H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384569	NM_001040694.2(INCENP):c.1615C>T (p.Arg539Trp)	INCENP (R535W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376106	NM_001040694.2(INCENP):c.1435C>G (p.Pro479Ala)	INCENP (P479A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363313	NM_001040694.2(INCENP):c.2188C>T (p.Arg730Trp)	INCENP (R730W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362993	NM_001040694.2(INCENP):c.397G>A (p.Ala133Thr)	INCENP (A133T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360578	NM_001040694.2(INCENP):c.839G>A (p.Arg280Gln)	INCENP (R280Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357148	NM_001040694.2(INCENP):c.1616G>A (p.Arg539Gln)	INCENP (R539Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357093	NM_001040694.2(INCENP):c.1973G>A (p.Arg658Gln)	INCENP (R654Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350955	NM_001040694.2(INCENP):c.527G>A (p.Arg176His)	INCENP (R176H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341950	NM_001040694.2(INCENP):c.1217C>T (p.Thr406Met)	INCENP (T406M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340941	NM_001040694.2(INCENP):c.1352G>A (p.Arg451His)	INCENP (R451H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340798	NM_001040694.2(INCENP):c.1518G>A (p.Met506Ile)	INCENP (M506I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340338	NM_001040694.2(INCENP):c.176C>T (p.Thr59Ile)	INCENP (T59I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338473	NM_001040694.2(INCENP):c.812C>G (p.Ala271Gly)	INCENP (A271G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2337089	NM_001040694.2(INCENP):c.2191C>G (p.Leu731Val)	INCENP (L727V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300904	NM_001040694.2(INCENP):c.2134C>T (p.Arg712Trp)	INCENP (R708W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299867	NM_001040694.2(INCENP):c.1670A>T (p.Gln557Leu)	INCENP (Q557L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295158	NM_001040694.2(INCENP):c.2718G>C (p.Arg906Ser)	INCENP (R906S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290726	NM_001040694.2(INCENP):c.2308C>T (p.Arg770Trp)	INCENP (R770W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289981	NM_001040694.2(INCENP):c.1225G>A (p.Ala409Thr)	INCENP (A409T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285655	NM_001040694.2(INCENP):c.2223G>T (p.Glu741Asp)	INCENP (E737D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283848	NM_001040694.2(INCENP):c.85A>G (p.Lys29Glu)	INCENP (K29E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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