ClinVar for Gene (Select 991) - ClinVar

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Links from Gene

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264937	NM_001255.3(CDC20):c.674C>T (p.Pro225Leu)	CDC20 (P225L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264936	NM_001255.3(CDC20):c.614G>A (p.Ser205Asn)	CDC20 (S205N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264935	NM_001255.3(CDC20):c.264G>A (p.Met88Ile)	CDC20 (M88I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264934	NM_001255.3(CDC20):c.1435C>T (p.Arg479Trp)	CDC20 (R479W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264932	NM_001255.3(CDC20):c.1417T>C (p.Phe473Leu)	CDC20 (F473L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247992	NC_000001.10:g.(?_42922237)_(43916151_?)del	C1orf210, C1orf50 +20 more	Deletion	not provided	GPathogenic
Select item 3140786	NM_001255.3(CDC20):c.1411C>G (p.Arg471Gly)	CDC20 (R471G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140785	NM_001255.3(CDC20):c.1295C>T (p.Thr432Ile)	CDC20 (T432I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140783	NM_001255.3(CDC20):c.1072G>A (p.Val358Ile)	CDC20 (V358I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3064850	NM_001255.3(CDC20):c.556+1G>T	CDC20	Single nucleotide variant (splice donor variant)	Oocyte maturation defect 14	GLikely pathogenic
Select item 3062343	GRCh38/hg38 1p34.2(chr1:42278946-43598390)	C1orf210, C1orf50 +91 more	Copy number loss	Epilepsy syndrome	GPathogenic
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2602011	NM_001255.3(CDC20):c.1106A>G (p.Asn369Ser)	CDC20 (N369S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595439	NM_001255.3(CDC20):c.1411C>T (p.Arg471Cys)	CDC20 (R471C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592529	NM_001255.3(CDC20):c.1438C>T (p.Arg480Trp)	CDC20 (R480W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569143	NM_001255.3(CDC20):c.517G>C (p.Asp173His)	CDC20 (D173H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543992	NM_001255.3(CDC20):c.725C>T (p.Ala242Val)	CDC20 (A242V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528831	NM_001255.3(CDC20):c.1187T>G (p.Val396Gly)	CDC20 (V396G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489863	NM_001255.3(CDC20):c.88C>A (p.Arg30Ser)	CDC20 (R30S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471764	NM_001255.3(CDC20):c.1346T>C (p.Leu449Pro)	CDC20 (L449P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457911	NM_001255.3(CDC20):c.1351A>G (p.Met451Val)	CDC20 (M451V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443925	NM_001255.3(CDC20):c.1155G>C (p.Trp385Cys)	CDC20 (W385C)	Single nucleotide variant (missense variant)	Oocyte maturation defect 14	GPathogenic
Select item 2443924	NM_001255.3(CDC20):c.330+1G>A	CDC20	Single nucleotide variant (splice donor variant)	Oocyte maturation defect 14	GPathogenic
Select item 2443923	NM_001255.3(CDC20):c.964C>T (p.Arg322Ter)	CDC20 (R322*)	Single nucleotide variant (nonsense)	Oocyte maturation defect 14	GPathogenic
Select item 2443922	NM_001255.3(CDC20):c.784C>T (p.Arg262Ter)	CDC20 (R262*)	Single nucleotide variant (nonsense)	Oocyte maturation defect 14	GPathogenic
Select item 2443921	NM_001255.3(CDC20):c.631G>A (p.Ala211Thr)	CDC20 (A211T)	Single nucleotide variant (missense variant)	Oocyte maturation defect 14	GPathogenic
Select item 2443920	NM_001255.3(CDC20):c.1176_1179del (p.Ala391_Cys392insTer)	CDC20	Deletion (nonsense)	Oocyte maturation defect 14	GPathogenic
Select item 2443919	NM_001255.3(CDC20):c.810_813dup (p.Gly272fs)	CDC20 (G272fs)	Duplication (frameshift variant)	Oocyte maturation defect 14	GPathogenic
Select item 2443918	NM_001255.3(CDC20):c.544C>T (p.Arg182Ter)	CDC20	Single nucleotide variant (nonsense)	Oocyte maturation defect 14	GPathogenic
Select item 2443917	NM_001255.3(CDC20):c.965G>A (p.Arg322Gln)	CDC20 (R322Q)	Single nucleotide variant (missense variant)	Oocyte maturation defect 14	GPathogenic
Select item 2443916	NM_001255.3(CDC20):c.683A>G (p.Tyr228Cys)	CDC20	Single nucleotide variant (missense variant)	Oocyte maturation defect 14	GPathogenic
Select item 2387632	NM_001255.3(CDC20):c.304G>C (p.Glu102Gln)	CDC20 (E102Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377270	NM_001255.3(CDC20):c.1342A>G (p.Ser448Gly)	CDC20 (S448G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374659	NM_001255.3(CDC20):c.1447C>T (p.Arg483Trp)	CDC20 (R483W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344459	NM_001255.3(CDC20):c.419C>T (p.Ala140Val)	CDC20 (A140V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336701	NM_001255.3(CDC20):c.1370C>T (p.Thr457Ile)	CDC20 (T457I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323422	NM_001255.3(CDC20):c.1442G>C (p.Arg481Pro)	CDC20 (R481P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315817	NM_001255.3(CDC20):c.877C>T (p.His293Tyr)	CDC20 (H293Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288105	NM_001255.3(CDC20):c.302C>T (p.Pro101Leu)	CDC20 (P101L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277846	NM_001255.3(CDC20):c.336T>A (p.His112Gln)	CDC20 (H112Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276466	NM_001255.3(CDC20):c.109G>A (p.Gly37Ser)	CDC20 (G37S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264412	NM_001255.3(CDC20):c.946C>T (p.Arg316Cys)	CDC20 (R316C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243377	NM_001255.3(CDC20):c.1018C>A (p.Pro340Thr)	CDC20 (P340T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229768	NM_001255.3(CDC20):c.1087T>C (p.Trp363Arg)	CDC20 (W363R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220204	NM_001255.3(CDC20):c.469A>C (p.Thr157Pro)	CDC20 (T157P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213922	NM_001255.3(CDC20):c.484C>G (p.Arg162Gly)	CDC20 (R162G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1801376	NM_001255.3(CDC20):c.856C>A (p.Arg286Ser)	CDC20 (R286S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 1070387	NC_000001.10:g.(?_43392692)_(43870241_?)del	CDC20, CFAP144 +10 more	Deletion	not provided	GPathogenic
Select item 778231	NM_001255.3(CDC20):c.1452G>A (p.Glu484=)	CDC20	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770844	NM_001255.3(CDC20):c.1081G>A (p.Val361Ile)	CDC20 (V361I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 689310	GRCh37/hg19 1p34.2-34.1(chr1:43336799-44713202)x1	ARTN, ATP6V0B +24 more	Copy number loss	not provided	GPathogenic
Select item 686767	GRCh37/hg19 1p34.2-34.1(chr1:43787578-44221212)x3	CDC20, ELOVL1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395212	GRCh37/hg19 1p34.2-34.1(chr1:42914303-45001279)x1	ARTN, ATP6V0B +36 more	Copy number loss	See cases	GPathogenic
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 57093	GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1	ARTN, ATP6V0B +253 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 60