ClinVar for Gene (Select 6795) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 1335371	NM_001015878.2(AURKC):c.54dup (p.Glu19fs)	AURKC (E19fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1296875	NM_001015878.2(AURKC):c.297-144C>T	AURKC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295147	NM_001015878.2(AURKC):c.-120_-107del	AURKC	Deletion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1289687	NC_000019.10:g.57230669G>A	AURKC	Single nucleotide variant (genic upstream transcript 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 1262935	NM_001015878.2(AURKC):c.584+284C>T	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 1257509	NM_001015878.2(AURKC):c.58+29A>G	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 1248562	NM_001015878.2(AURKC):c.105-67C>T	AURKC	Single nucleotide variant (intron variant)	not provided	GBenign
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 1229063	NM_001015878.2(AURKC):c.59-71T>C	AURKC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222780	NM_001015878.2(AURKC):c.584+146C>T	AURKC	Single nucleotide variant (intron 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 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 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 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 894130	NM_001015878.2(AURKC):c.*38G>A	AURKC	Single nucleotide variant (3 prime UTR variant)	Infertility associated with multi-tailed spermatozoa and excessive DNA	GBenign
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 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 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 893271	NM_001015878.2(AURKC):c.762A>G (p.Val254=)	AURKC	Single nucleotide variant (synonymous variant)	Infertility associated with multi-tailed spermatozoa and excessive DNA	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 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 893268	NM_001015878.2(AURKC):c.675T>C (p.Ile225=)	AURKC	Single nucleotide variant (synonymous variant)	Infertility associated with multi-tailed spermatozoa and excessive DNA	GUncertain significance
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 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 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 +1 more	GBenign/Likely benign
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 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 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 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 816097	GRCh37/hg19 19q13.43(chr19:57671695-57745390)x1	ZNF264, DUXA +1 more	Copy number loss	not provided	GUncertain significance
Select item 781475	NM_001015878.2(AURKC):c.436-9C>T	AURKC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 685831	GRCh37/hg19 19q13.43(chr19:57590808-57745390)x3	AURKC, DUXA +3 more	Copy number gain	not provided	GUncertain significance
Select item 685408	GRCh37/hg19 19q13.43(chr19:57718739-57760953)x1	AURKC, ZNF264 +1 more	Copy number loss	not provided	GUncertain significance
Select item 684929	GRCh37/hg19 19q13.43(chr19:57737113-57771792)x1	AURKC, ZNF805	Copy number loss	not provided	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 564606	GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3	ZNF548, ZNF549 +157 more	Copy number gain	not provided	GPathogenic
Select item 564590	GRCh37/hg19 19q13.43(chr19:57718739-58058739)x1	VN1R1, AURKC +14 more	Copy number loss	not provided	GUncertain significance
Select item 560105	Single allele	ZNF805, ZNF17 +11 more	Duplication	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442403	GRCh37/hg19 19q13.43(chr19:56706500-58956888)x3	A1BG, AURKC +64 more	Copy number gain	See cases	GUncertain significance
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 330232	NM_001015878.2(AURKC):c.621G>A (p.Pro207=)	AURKC	Single nucleotide variant (synonymous variant)	AURKC-related condition +1 more	GBenign/Likely benign
Select item 330231	NM_001015878.2(AURKC):c.436-4A>G	AURKC	Single nucleotide variant (intron variant)	AURKC-related condition +1 more	GConflicting classifications of pathogenicity
Select item 330230	NM_001015878.2(AURKC):c.396G>A (p.Leu132=)	AURKC	Single nucleotide variant (synonymous variant)	Infertility associated with multi-tailed spermatozoa and excessive DNA +1 more	GBenign/Likely benign
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 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 330227	NM_001015878.2(AURKC):c.-80dup	AURKC	Duplication (5 prime UTR variant +1 more)	Spermatogenic Failure	GLikely benign
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 330225	NM_001015878.2(AURKC):c.-128C>T	AURKC	Single nucleotide variant (splice donor variant +2 more)	Infertility associated with multi-tailed spermatozoa and excessive DNA +2 more	GBenign
Select item 330224	NM_001015878.2(AURKC):c.-145G>C	AURKC	Single nucleotide variant (5 prime UTR variant)	Infertility associated with multi-tailed spermatozoa and excessive DNA +1 more	GBenign
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 153557	GRCh38/hg38 19q13.43(chr19:56353449-58445521)x3	A1BG, A1BG-AS1 +179 more	Copy number gain	See cases	GUncertain significance
Select item 151461	GRCh38/hg38 19q13.43(chr19:57167550-57236826)x1	AURKC, LOC130065162 +6 more	Copy number loss	See cases	GUncertain significance
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	MIR498, MIR512-1 +782 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	A1BG, A1BG-AS1 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	LOC130065086, LOC130065087 +537 more	Copy number gain	See cases	GPathogenic
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 59128	GRCh38/hg38 19q13.43(chr19:56363208-58581203)x3	A1BG, A1BG-AS1 +215 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC113939975, LOC116286194 +806 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065070, LOC130065071 +761 more	Copy number gain	See cases	GPathogenic
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 6306	NM_001015878.2(AURKC):c.145del (p.Leu49fs)	AURKC (L15fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 84