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

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1289687	NC_000019.10:g.57230669G>A	AURKC	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1183936	NC_000019.10:g.57230880C>T	AURKC	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 330224	NM_001015878.2(AURKC):c.-145G>C	AURKC	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 894485	NM_001015878.2(AURKC):c.-139C>T	AURKC	Single nucleotide variant (5 prime UTR variant)	Infertility associated with multi-tailed spermatozoa and excessive DNA	GUncertain significance
Select item 330225	NM_001015878.2(AURKC):c.-128C>T	AURKC	Single nucleotide variant (5 prime UTR variant +2 more)	Infertility associated with multi-tailed spermatozoa and excessive DNA +2 more	GBenign
Select item 1295147	NM_001015878.2(AURKC):c.-120_-107del	AURKC	Deletion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 330226	NM_001015878.2(AURKC):c.-99dup	AURKC	Duplication (5 prime UTR variant +1 more)	Spermatogenic Failure +1 more	GConflicting classifications of pathogenicity
Select item 330227	NM_001015878.2(AURKC):c.-80dup	AURKC	Duplication (5 prime UTR variant +1 more)	Spermatogenic Failure	GLikely benign
Select item 894486	NM_001015878.2(AURKC):c.-84C>T	AURKC	Single nucleotide variant (5 prime UTR variant +1 more)	Infertility associated with multi-tailed spermatozoa and excessive DNA	GUncertain significance
Select item 893059	NM_001015878.2(AURKC):c.-53A>C	AURKC	Single nucleotide variant (5 prime UTR variant +1 more)	Infertility associated with multi-tailed spermatozoa and excessive DNA	GUncertain significance
Select item 893060	NM_001015878.2(AURKC):c.-38G>T	AURKC	Single nucleotide variant (5 prime UTR variant +1 more)	Infertility associated with multi-tailed spermatozoa and excessive DNA	GUncertain significance
Select item 3132354	NM_001015878.2(AURKC):c.11C>T (p.Pro4Leu)	AURKC (P4L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2272942	NM_001015878.2(AURKC):c.11C>G (p.Pro4Arg)	AURKC (P4R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 893061	NM_001015878.2(AURKC):c.12C>G (p.Pro4=)	AURKC	Single nucleotide variant (synonymous variant +1 more)	Infertility associated with multi-tailed spermatozoa and excessive DNA	GUncertain significance
Select item 2412569	NM_001015878.2(AURKC):c.13A>G (p.Arg5Gly)	AURKC (R5G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1335371	NM_001015878.2(AURKC):c.54dup (p.Glu19fs)	AURKC (E19fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1257509	NM_001015878.2(AURKC):c.58+29A>G	AURKC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229063	NM_001015878.2(AURKC):c.59-71T>C	AURKC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262537	NM_001015878.2(AURKC):c.59-43C>G	AURKC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2362524	NM_001015878.2(AURKC):c.64A>G (p.Thr22Ala)	AURKC (T22A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2329943	NM_001015878.2(AURKC):c.72C>A (p.Asn24Lys)	AURKC (N5K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 632323	NM_001015878.2(AURKC):c.94_101dup (p.Met35fs)	AURKC (M35fs +1 more)	Microsatellite (frameshift variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2514915	NM_001015878.2(AURKC):c.95G>T (p.Ser32Ile)	AURKC (S13I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1248562	NM_001015878.2(AURKC):c.105-67C>T	AURKC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 6306	NM_001015878.2(AURKC):c.145del (p.Leu49fs)	AURKC (L15fs +2 more)	Deletion (frameshift variant)	Infertility associated with multi-tailed spermatozoa and excessive DNA +1 more	GPathogenic
Select item 330228	NM_001015878.2(AURKC):c.184C>T (p.Leu62Phe)	AURKC (L62F +2 more)	Single nucleotide variant (missense variant)	Infertility associated with multi-tailed spermatozoa and excessive DNA	GUncertain significance
Select item 2381610	NM_001015878.2(AURKC):c.203T>C (p.Ile68Thr)	AURKC (I49T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 893062	NM_001015878.2(AURKC):c.209C>G (p.Ala70Gly)	AURKC (A36G +2 more)	Single nucleotide variant (missense variant)	Infertility associated with multi-tailed spermatozoa and excessive DNA	GUncertain significance
Select item 2314293	NM_001015878.2(AURKC):c.221T>C (p.Leu74Pro)	AURKC (L40P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 893063	NM_001015878.2(AURKC):c.235A>G (p.Ile79Val)	AURKC (I45V +2 more)	Single nucleotide variant (missense variant)	Infertility associated with multi-tailed spermatozoa and excessive DNA	GBenign
Select item 1296875	NM_001015878.2(AURKC):c.297-144C>T	AURKC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3132355	NM_001015878.2(AURKC):c.297A>T (p.Gln99His)	AURKC (Q99H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 330229	NM_001015878.2(AURKC):c.351C>T (p.Tyr117=)	AURKC	Single nucleotide variant (synonymous variant)	Infertility associated with multi-tailed spermatozoa and excessive DNA	GUncertain significance
Select item 3333627	NM_001015878.2(AURKC):c.358C>G (p.Leu120Val)	AURKC (L86V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3132356	NM_001015878.2(AURKC):c.363A>T (p.Glu121Asp)	AURKC (E87D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548750	NM_001015878.2(AURKC):c.370C>T (p.Pro124Ser)	AURKC (P105S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 330230	NM_001015878.2(AURKC):c.396G>A (p.Leu132=)	AURKC	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2211933	NM_001015878.2(AURKC):c.406G>A (p.Glu136Lys)	AURKC (E117K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3132358	NM_001015878.2(AURKC):c.424C>T (p.Arg142Cys)	AURKC (R108C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 893266	NM_001015878.2(AURKC):c.435+11G>A	AURKC	Single nucleotide variant (intron variant)	Infertility associated with multi-tailed spermatozoa and excessive DNA	GUncertain significance
Select item 1247657	NM_001015878.2(AURKC):c.435+154A>C	AURKC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236604	NM_001015878.2(AURKC):c.435+324G>A	AURKC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 781475	NM_001015878.2(AURKC):c.436-9C>T	AURKC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 330231	NM_001015878.2(AURKC):c.436-4A>G	AURKC	Single nucleotide variant (intron variant)	Infertility associated with multi-tailed spermatozoa and excessive DNA +1 more	GUncertain significance
Select item 66088	NM_001015878.2(AURKC):c.436-2A>G	AURKC	Single nucleotide variant (splice acceptor variant)	Infertility associated with multi-tailed spermatozoa and excessive DNA	GPathogenic
Select item 1222780	NM_001015878.2(AURKC):c.584+146C>T	AURKC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254238	NM_001015878.2(AURKC):c.584+159A>C	AURKC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262935	NM_001015878.2(AURKC):c.584+284C>T	AURKC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267343	NM_001015878.2(AURKC):c.585-180C>T	AURKC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3333620	NM_001015878.2(AURKC):c.620C>T (p.Pro207Leu)	AURKC (P188L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 330232	NM_001015878.2(AURKC):c.621G>A (p.Pro207=)	AURKC	Single nucleotide variant (synonymous variant)	Infertility associated with multi-tailed spermatozoa and excessive DNA +1 more	GLikely benign
Select item 893267	NM_001015878.2(AURKC):c.656A>C (p.Lys219Thr)	AURKC (K185T +2 more)	Single nucleotide variant (missense variant)	Infertility associated with multi-tailed spermatozoa and excessive DNA	GUncertain significance
Select item 2238742	NM_001015878.2(AURKC):c.658G>A (p.Val220Met)	AURKC (V220M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 893268	NM_001015878.2(AURKC):c.675T>C (p.Ile225=)	AURKC	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 6307	NM_001015878.2(AURKC):c.686G>A (p.Cys229Tyr)	AURKC (C229Y +2 more)	Single nucleotide variant (missense variant)	Infertility associated with multi-tailed spermatozoa and excessive DNA	GPathogenic
Select item 893269	NM_001015878.2(AURKC):c.689A>G (p.Tyr230Cys)	AURKC (Y196C +2 more)	Single nucleotide variant (missense variant)	Infertility associated with multi-tailed spermatozoa and excessive DNA	GUncertain significance
Select item 1028940	NM_001015878.2(AURKC):c.744C>G (p.Tyr248Ter)	AURKC (Y214* +2 more)	Single nucleotide variant (nonsense)	Male infertility with spermatogenesis disorder +1 more	GPathogenic
Select item 3333610	NM_001015878.2(AURKC):c.749G>A (p.Arg250His)	AURKC (R216H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 893270	NM_001015878.2(AURKC):c.760-12T>C	AURKC	Single nucleotide variant (intron variant)	Infertility associated with multi-tailed spermatozoa and excessive DNA	GUncertain significance
Select item 893271	NM_001015878.2(AURKC):c.762A>G (p.Val254=)	AURKC	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 894127	NM_001015878.2(AURKC):c.779T>C (p.Leu260Pro)	AURKC (L226P +2 more)	Single nucleotide variant (missense variant)	Infertility associated with multi-tailed spermatozoa and excessive DNA	GUncertain significance
Select item 894128	NM_001015878.2(AURKC):c.780A>G (p.Leu260=)	AURKC	Single nucleotide variant (synonymous variant)	Infertility associated with multi-tailed spermatozoa and excessive DNA	GUncertain significance
Select item 894129	NM_001015878.2(AURKC):c.*6G>C	AURKC	Single nucleotide variant (3 prime UTR variant)	Infertility associated with multi-tailed spermatozoa and excessive DNA	GUncertain significance
Select item 894130	NM_001015878.2(AURKC):c.*38G>A	AURKC	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign

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Items: 64