PLK3[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 154514	GRCh38/hg38 1p34.1(chr1:43896056-44867736)x3	ARMH1, ARTN +88 more	Copy number gain	See cases	GUncertain significance
Select item 57429	GRCh38/hg38 1p34.1(chr1:44713837-45282899)x3	ARMH1, BEST4 +39 more	Copy number gain	See cases	GUncertain significance
Select item 3215329	NM_004073.4(PLK3):c.70G>C (p.Ala24Pro)	LOC129930424, PLK3 (A24P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215330	NM_004073.4(PLK3):c.73G>C (p.Gly25Arg)	LOC129930424, PLK3 (G25R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361366	NM_004073.4(PLK3):c.134C>T (p.Pro45Leu)	LOC129930424, PLK3 (P45L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215324	NM_004073.4(PLK3):c.182C>G (p.Thr61Ser)	PLK3 (T61S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215325	NM_004073.4(PLK3):c.204G>T (p.Leu68Phe)	PLK3 (L68F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309879	NM_004073.4(PLK3):c.223C>G (p.Arg75Gly)	PLK3 (R75G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277826	NM_004073.4(PLK3):c.229T>C (p.Tyr77His)	PLK3 (Y77H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493420	NM_004073.4(PLK3):c.232G>A (p.Glu78Lys)	PLK3 (E78K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315422	NM_004073.4(PLK3):c.258C>G (p.Ser86Arg)	PLK3 (S86R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551760	NM_004073.4(PLK3):c.302C>G (p.Pro101Arg)	PLK3 (P101R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307784	NM_004073.4(PLK3):c.353A>T (p.Gln118Leu)	PLK3 (Q118L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235179	NM_004073.4(PLK3):c.358C>T (p.Arg120Cys)	PLK3 (R120C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770845	NM_004073.4(PLK3):c.444C>A (p.Ala148=)	PLK3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2311354	NM_004073.4(PLK3):c.488G>T (p.Arg163Leu)	PLK3 (R163L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307786	NM_004073.4(PLK3):c.499C>T (p.Arg167Trp)	PLK3 (R167W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400909	NM_004073.4(PLK3):c.500G>A (p.Arg167Gln)	PLK3 (R167Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215326	NM_004073.4(PLK3):c.512C>G (p.Ser171Cys)	PLK3 (S171C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215327	NM_004073.4(PLK3):c.535C>T (p.Arg179Cys)	PLK3 (R179C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775133	NM_004073.4(PLK3):c.537C>T (p.Arg179=)	PLK3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2544130	NM_004073.4(PLK3):c.626G>A (p.Arg209Gln)	PLK3 (R209Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215328	NM_004073.4(PLK3):c.638C>T (p.Pro213Leu)	PLK3 (P213L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476476	NM_004073.4(PLK3):c.658A>T (p.Ile220Phe)	PLK3 (I220F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281242	NM_004073.4(PLK3):c.727G>C (p.Val243Leu)	PLK3 (V243L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307788	NM_004073.4(PLK3):c.784A>G (p.Thr262Ala)	PLK3 (T262A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570244	NM_004073.4(PLK3):c.790G>A (p.Asp264Asn)	PLK3 (D264N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713801	NM_004073.4(PLK3):c.801G>A (p.Glu267=)	PLK3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2243422	NM_004073.4(PLK3):c.812G>A (p.Cys271Tyr)	PLK3 (C271Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293125	NM_004073.4(PLK3):c.823G>T (p.Val275Phe)	PLK3 (V275F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791791	NM_004073.4(PLK3):c.852A>G (p.Ser284=)	PLK3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3307787	NM_004073.4(PLK3):c.863G>T (p.Arg288Leu)	PLK3 (R288L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215331	NM_004073.4(PLK3):c.877G>A (p.Ala293Thr)	PLK3 (A293T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552678	NM_004073.4(PLK3):c.877G>T (p.Ala293Ser)	PLK3 (A293S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386490	NM_004073.4(PLK3):c.904C>T (p.Arg302Cys)	PLK3 (R302C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215332	NM_004073.4(PLK3):c.926T>C (p.Leu309Pro)	PLK3 (L309P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215333	NM_004073.4(PLK3):c.928C>T (p.Arg310Cys)	PLK3 (R310C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215334	NM_004073.4(PLK3):c.929G>A (p.Arg310His)	PLK3 (R310H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722532	NM_004073.4(PLK3):c.949-4C>T	PLK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3215335	NM_004073.4(PLK3):c.973A>G (p.Ile325Val)	PLK3 (I325V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2596417	NM_004073.4(PLK3):c.1108G>A (p.Gly370Ser)	PLK3 (G370S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353129	NM_004073.4(PLK3):c.1138G>A (p.Val380Ile)	PLK3 (V380I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 781927	NM_004073.4(PLK3):c.1149G>A (p.Gln383=)	PLK3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2316803	NM_004073.4(PLK3):c.1151A>T (p.Asp384Val)	PLK3 (D384V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215321	NM_004073.4(PLK3):c.1231C>T (p.Arg411Cys)	PLK3 (R411C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307789	NM_004073.4(PLK3):c.1244C>G (p.Ala415Gly)	PLK3 (A415G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307785	NM_004073.4(PLK3):c.1279G>A (p.Val427Met)	PLK3 (V427M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360497	NM_004073.4(PLK3):c.1343C>T (p.Ala448Val)	PLK3 (A448V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215322	NM_004073.4(PLK3):c.1371G>C (p.Gln457His)	PLK3 (Q457H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215323	NM_004073.4(PLK3):c.1402G>C (p.Val468Leu)	PLK3 (V468L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534973	NM_004073.4(PLK3):c.1444A>C (p.Ser482Arg)	PLK3 (S482R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253820	NM_004073.4(PLK3):c.1447C>T (p.Arg483Cys)	PLK3 (R483C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513671	NM_004073.4(PLK3):c.1448G>A (p.Arg483His)	PLK3 (R483H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720741	NM_004073.4(PLK3):c.1488C>T (p.Ala496=)	PLK3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2209295	NM_004073.4(PLK3):c.1568G>A (p.Arg523Gln)	PLK3 (R523Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523438	NM_004073.4(PLK3):c.1597C>T (p.Arg533Trp)	PLK3 (R533W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333310	NM_004073.4(PLK3):c.1598G>A (p.Arg533Gln)	PLK3 (R533Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307783	NM_004073.4(PLK3):c.1687C>A (p.Leu563Met)	PLK3 (L563M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606542	NM_004073.4(PLK3):c.1706C>T (p.Thr569Met)	PLK3 (T569M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306617	NM_004073.4(PLK3):c.1762G>A (p.Gly588Arg)	PLK3 (G588R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333189	NM_004073.4(PLK3):c.1804C>G (p.Leu602Val)	PLK3 (L602V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476475	NM_004073.4(PLK3):c.1837T>G (p.Cys613Gly)	PLK3 (C613G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425557	NC_000001.10:g.(?_44257753)_(46663493_?)dup	AKR1A1, ARMH1 +39 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1684561	GRCh37/hg19 1p34.1(chr1:44346001-46332161)x3	AKR1A1, ARMH1 +36 more	Copy number gain	See cases	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 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

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Items: 70