ClinVar for Gene (Select 5347) - ClinVar

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Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3215313	NM_005030.6(PLK1):c.825C>A (p.Asn275Lys)	PLK1 (N275K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215311	NM_005030.6(PLK1):c.1780C>T (p.Arg594Cys)	PLK1 (R594C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215310	NM_005030.6(PLK1):c.1747G>A (p.Ala583Thr)	PLK1 (A583T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215309	NM_005030.6(PLK1):c.1588G>A (p.Val530Met)	PLK1 (V530M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215308	NM_005030.6(PLK1):c.1367G>A (p.Arg456His)	PLK1 (R456H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621611	NM_005030.6(PLK1):c.1802A>C (p.Lys601Thr)	PLK1 (K601T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2573121	GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1	NPIPB5, PALB2 +64 more	Copy number loss	Chromosome 16p12.2-p11.2 deletion syndrome	GPathogenic
Select item 2553103	NM_005030.6(PLK1):c.937C>A (p.Arg313Ser)	PLK1 (R313S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553045	NM_005030.6(PLK1):c.107C>T (p.Pro36Leu)	PLK1 (P36L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508185	NM_005030.6(PLK1):c.1688G>A (p.Arg563His)	PLK1 (R563H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483465	NM_005030.6(PLK1):c.1091G>A (p.Arg364Gln)	PLK1 (R364Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465400	NM_005030.6(PLK1):c.886A>G (p.Ile296Val)	PLK1 (I296V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392009	NM_005030.6(PLK1):c.1496C>T (p.Pro499Leu)	PLK1 (P499L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371355	NM_005030.6(PLK1):c.980T>C (p.Ile327Thr)	PLK1 (I327T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354034	NM_005030.6(PLK1):c.992G>A (p.Ser331Asn)	PLK1 (S331N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336841	NM_005030.6(PLK1):c.62G>T (p.Gly21Val)	PLK1 (G21V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322584	NM_005030.6(PLK1):c.835G>A (p.Ala279Thr)	PLK1 (A279T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318323	NM_005030.6(PLK1):c.613G>T (p.Gly205Trp)	PLK1 (G205W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303859	NM_005030.6(PLK1):c.10G>T (p.Ala4Ser)	PLK1 (A4S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300174	NM_005030.6(PLK1):c.1781G>A (p.Arg594His)	PLK1 (R594H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239549	NM_005030.6(PLK1):c.1750C>T (p.Arg584Cys)	PLK1 (R584C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808696	GRCh37/hg19 16p12.2-11.2(chr16:21576803-30177240)x3	ALDOA, APOBR +93 more	Copy number gain	not provided	GPathogenic
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1328113	GRCh37/hg19 16p12.2-11.2(chr16:21594997-29625302)x1	APOBR, AQP8 +67 more	Copy number loss	not provided	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 972938	GRCh37/hg19 16p12.2-11.2(chr16:21312200-29646379)x3	KDM8, LAT +69 more	Copy number gain	not provided	Gnot provided
Select item 830213	NC_000016.9:g.21530207_29332245del	KDM8, LAT +64 more	Deletion	not provided	GPathogenic
Select item 815811	GRCh37/hg19 16p12.2-11.2(chr16:21576802-29351826)x3	GGA2, GSG1L +64 more	Copy number gain	not provided	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 812701	NM_005030.6(PLK1):c.128T>C (p.Val43Ala)	PLK1 (V43A)	Single nucleotide variant (missense variant)	Recurrent spontaneous abortion	GUncertain significance
Select item 791333	NM_005030.6(PLK1):c.420G>A (p.Glu140=)	PLK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 564308	GRCh37/hg19 16p12.2-12.1(chr16:23610466-24743657)x1	CACNG3, CHP2 +7 more	Copy number loss	not provided	GUncertain significance
Select item 564297	GRCh37/hg19 16p12.2-11.2(chr16:21379628-29379768)x1	APOBR, AQP8 +65 more	Copy number loss	not provided	GPathogenic
Select item 443422	GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3	ACSM1, ACSM2A +128 more	Copy number gain	See cases	GPathogenic
Select item 443382	GRCh37/hg19 16p12.2-11.2(chr16:21379628-29351826)x3	APOBR, AQP8 +65 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AGRP, AHSP +590 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	JPT2, KARS1 +810 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	ADAD2, ADAMTS18 +810 more	Copy number gain	See cases	GPathogenic
Select item 443086	GRCh37/hg19 16p12.2-11.2(chr16:22718350-28858721)x4	APOBR, AQP8 +44 more	Copy number gain	See cases	GPathogenic
Select item 442244	GRCh37/hg19 16p12.2-11.2(chr16:21596299-30399167)x1	ATP2A1, ALDOA +102 more	Copy number loss	See cases	GPathogenic
Select item 395601	GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3	SPNS1, SULT1A1 +119 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	KCTD13, KCTD19 +810 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ITGAM, NPIPA3 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221513	GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3	ACSM1, ACSM2A +95 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic
Select item 151527	GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3	APOBR, AQP8 +287 more	Copy number gain	See cases	GLikely pathogenic
Select item 146289	GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3	APOBR, AQP8 +233 more	Copy number gain	See cases	GLikely pathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +851 more	Copy number gain	See cases	GPathogenic
Select item 58734	GRCh38/hg38 16p12.2-12.1(chr16:21600992-28323344)x1	AQP8, ARHGAP17 +209 more	Copy number loss	See cases	GPathogenic
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic
Select item 58099	GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3	APOBR, AQP8 +280 more	Copy number gain	See cases	GPathogenic
Select item 58086	GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3	LOC130058720, LOC130058721 +287 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	ABCC1, ABCC6 +400 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 54