ClinVar for Gene (Select 157313) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3265085	NM_152562.4(CDCA2):c.2654A>G (p.Asn885Ser)	CDCA2 (N870S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265084	NM_152562.4(CDCA2):c.1825A>G (p.Ile609Val)	CDCA2 (I609V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265083	NM_152562.4(CDCA2):c.1237C>G (p.Pro413Ala)	CDCA2 (P398A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265080	NM_152562.4(CDCA2):c.2387T>C (p.Val796Ala)	CDCA2 (V796A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265079	NM_152562.4(CDCA2):c.1987A>G (p.Ile663Val)	CDCA2 (I648V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265078	NM_152562.4(CDCA2):c.2003C>T (p.Ser668Leu)	CDCA2 (S653L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3265077	NM_152562.4(CDCA2):c.520T>C (p.Ser174Pro)	CDCA2 (S159P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265076	NM_152562.4(CDCA2):c.2161C>T (p.Arg721Cys)	CDCA2 (R706C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265075	NM_152562.4(CDCA2):c.317G>A (p.Arg106His)	CDCA2 (R91H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141005	NM_152562.4(CDCA2):c.955C>T (p.Leu319Phe)	CDCA2, LOC126860331 (L319F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141004	NM_152562.4(CDCA2):c.67G>A (p.Ala23Thr)	CDCA2 (A23T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3141003	NM_152562.4(CDCA2):c.665T>C (p.Ile222Thr)	CDCA2 (I207T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3141002	NM_152562.4(CDCA2):c.550G>T (p.Gly184Cys)	CDCA2 (G169C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141001	NM_152562.4(CDCA2):c.431G>A (p.Arg144Gln)	CDCA2 (R144Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141000	NM_152562.4(CDCA2):c.3020G>A (p.Ser1007Asn)	CDCA2, LOC124153127 (S1007N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140998	NM_152562.4(CDCA2):c.259T>C (p.Cys87Arg)	CDCA2 (C72R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140996	NM_152562.4(CDCA2):c.1870G>A (p.Glu624Lys)	CDCA2 (E609K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140995	NM_152562.4(CDCA2):c.1741A>G (p.Arg581Gly)	CDCA2 (R566G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140994	NM_152562.4(CDCA2):c.1601A>C (p.Glu534Ala)	CDCA2 (E534A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140992	NM_152562.4(CDCA2):c.1544G>A (p.Ser515Asn)	CDCA2 (S515N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140991	NM_152562.4(CDCA2):c.1509A>G (p.Ile503Met)	CDCA2 (I488M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140990	NM_152562.4(CDCA2):c.1231A>G (p.Asn411Asp)	CDCA2 (N396D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063021	GRCh37/hg19 8p21.2(chr8:25077825-25337736)x3	CDCA2, DOCK5 +2 more	Copy number gain	not specified	GUncertain significance
Select item 3063019	GRCh37/hg19 8p21.2-12(chr8:23754939-30219110)x1	ADAM28, ADAM7 +39 more	Copy number loss	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685301	GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	HR, MIR320A +95 more	Copy number loss	not provided	GPathogenic
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2658494	NM_152562.4(CDCA2):c.954C>T (p.Asp318=)	CDCA2, LOC126860331	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658493	NM_152562.4(CDCA2):c.128C>T (p.Pro43Leu)	CDCA2 (P28L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2615756	NM_152562.4(CDCA2):c.3038A>G (p.Glu1013Gly)	CDCA2, LOC124153127 (E1013G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603888	NM_152562.4(CDCA2):c.124C>T (p.Pro42Ser)	CDCA2 (P27S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597935	NM_152562.4(CDCA2):c.2402C>G (p.Thr801Arg)	CDCA2 (T786R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590987	NM_152562.4(CDCA2):c.2860G>A (p.Val954Ile)	CDCA2, LOC124153127 (V939I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 2560103	NM_152562.4(CDCA2):c.2452A>G (p.Ser818Gly)	CDCA2 (S818G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557755	NM_152562.4(CDCA2):c.1361A>G (p.Asn454Ser)	CDCA2 (N439S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547351	NM_152562.4(CDCA2):c.1700G>C (p.Gly567Ala)	CDCA2 (G552A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2528368	NM_152562.4(CDCA2):c.1062T>A (p.Asp354Glu)	CDCA2 (D339E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499083	GRCh37/hg19 8p21.3-21.2(chr8:21925038-26372195)x1	ADAM28, ADAM7 +46 more	Copy number loss	not provided	GLikely pathogenic
Select item 2471978	NM_152562.4(CDCA2):c.2987G>A (p.Arg996Gln)	CDCA2, LOC124153127 (R981Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468733	NM_152562.4(CDCA2):c.1576A>C (p.Asn526His)	CDCA2 (N526H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425516	NC_000008.10:g.(?_24810323)_(25892142_?)del	CDCA2, DOCK5 +4 more	Deletion	Charcot-Marie-Tooth disease type 2E	GPathogenic
Select item 2423411	NC_000008.10:g.(?_24810323)_(25892142_?)dup	CDCA2, DOCK5 +4 more	Duplication	not provided	GUncertain significance
Select item 2407287	NM_152562.4(CDCA2):c.959C>T (p.Pro320Leu)	CDCA2, LOC126860331 (P305L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372933	NM_152562.4(CDCA2):c.827A>G (p.Lys276Arg)	CDCA2, LOC126860331 (K261R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370773	NM_152562.4(CDCA2):c.49A>G (p.Met17Val)	CDCA2 (M17V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2365616	NM_152562.4(CDCA2):c.1539G>C (p.Leu513Phe)	CDCA2 (L498F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353535	NM_152562.4(CDCA2):c.1715G>A (p.Ser572Asn)	CDCA2 (S557N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349905	NM_152562.4(CDCA2):c.1783G>A (p.Glu595Lys)	CDCA2 (E595K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349450	NM_152562.4(CDCA2):c.851A>G (p.Lys284Arg)	CDCA2, LOC126860331 (K269R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346995	NM_152562.4(CDCA2):c.2905G>T (p.Asp969Tyr)	CDCA2, LOC124153127 (D969Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346894	NM_152562.4(CDCA2):c.2707G>A (p.Glu903Lys)	CDCA2 (E888K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346394	NM_152562.4(CDCA2):c.983G>A (p.Arg328His)	CDCA2, LOC126860331 (R328H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334709	NM_152562.4(CDCA2):c.3018G>C (p.Glu1006Asp)	CDCA2, LOC124153127 (E1006D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333530	NM_152562.4(CDCA2):c.1243C>T (p.Arg415Cys)	CDCA2 (R400C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327900	NM_152562.4(CDCA2):c.2567T>C (p.Val856Ala)	CDCA2 (V841A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324516	NM_152562.4(CDCA2):c.797C>T (p.Ser266Leu)	CDCA2 (S251L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319567	NM_152562.4(CDCA2):c.25C>T (p.Pro9Ser)	CDCA2 (P9S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2314549	NM_152562.4(CDCA2):c.829G>T (p.Val277Phe)	CDCA2, LOC126860331 (V277F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307408	NM_152562.4(CDCA2):c.2183A>C (p.Lys728Thr)	CDCA2 (K713T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302371	NM_152562.4(CDCA2):c.2824G>C (p.Val942Leu)	CDCA2 (V942L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301232	NM_152562.4(CDCA2):c.2231A>G (p.Gln744Arg)	CDCA2 (Q729R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298103	NM_152562.4(CDCA2):c.1081A>G (p.Ile361Val)	CDCA2 (I361V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293640	NM_152562.4(CDCA2):c.1580C>T (p.Thr527Ile)	CDCA2 (T512I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276929	NM_152562.4(CDCA2):c.719C>A (p.Ser240Tyr)	CDCA2 (S225Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276063	NM_152562.4(CDCA2):c.1399G>A (p.Val467Ile)	CDCA2 (V452I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2270367	NM_152562.4(CDCA2):c.2115A>T (p.Lys705Asn)	CDCA2 (K690N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270366	NM_152562.4(CDCA2):c.1919G>A (p.Arg640His)	CDCA2 (R625H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259282	NM_152562.4(CDCA2):c.650C>T (p.Ala217Val)	CDCA2 (A202V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255416	NM_152562.4(CDCA2):c.1003T>C (p.Ser335Pro)	CDCA2, LOC126860331 (S335P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249819	NM_152562.4(CDCA2):c.176C>T (p.Thr59Ile)	CDCA2 (T59I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249434	NM_152562.4(CDCA2):c.1144C>T (p.Pro382Ser)	CDCA2 (P382S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247777	NM_152562.4(CDCA2):c.203C>T (p.Thr68Ile)	CDCA2 (T53I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245903	NM_152562.4(CDCA2):c.2132C>G (p.Pro711Arg)	CDCA2 (P711R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243989	NM_152562.4(CDCA2):c.1274A>G (p.Asp425Gly)	CDCA2 (D410G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243378	NM_152562.4(CDCA2):c.617A>C (p.Tyr206Ser)	CDCA2 (Y206S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2237489	NM_152562.4(CDCA2):c.465A>G (p.Ile155Met)	CDCA2 (I140M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230466	NM_152562.4(CDCA2):c.469G>A (p.Glu157Lys)	CDCA2 (E142K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225658	NM_152562.4(CDCA2):c.407G>A (p.Arg136Gln)	CDCA2 (R121Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223564	NM_152562.4(CDCA2):c.2484A>T (p.Lys828Asn)	CDCA2 (K813N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221272	NM_152562.4(CDCA2):c.2672G>A (p.Arg891Gln)	CDCA2 (R876Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220500	NM_152562.4(CDCA2):c.835G>T (p.Asp279Tyr)	CDCA2, LOC126860331 (D279Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217165	NM_152562.4(CDCA2):c.1621A>G (p.Lys541Glu)	CDCA2 (K526E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206059	NM_152562.4(CDCA2):c.1039T>C (p.Cys347Arg)	CDCA2 (C347R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809494	GRCh37/hg19 8p21.2(chr8:25232694-25511821)x3	CDCA2, DOCK5 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1801768	NM_152562.4(CDCA2):c.696C>G (p.Asp232Glu)	CDCA2 (D217E +1 more)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1711134	Single allele	CDCA2, CLDN23 +250 more	Complex	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703665	Single allele	ADAMDEC1, ADGRA2 +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1341975	GRCh37/hg19 8p21.3-21.2(chr8:19779604-26531980)x4	PIWIL2, STC1 +55 more	Copy number gain	not provided	GPathogenic
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	SPAG11A, STMN4 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 980854	GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3	ADAM28, ADAM7 +104 more	Copy number gain	not provided	GLikely pathogenic
Select item 815113	GRCh37/hg19 8p21.2-21.1(chr8:24305969-28673405)x1	ADAM7, ADRA1A +30 more	Copy number loss	not provided	GPathogenic

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