PKN1[gene] - ClinVar

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC129391074, LOC130063625 +351 more	Copy number gain	See cases	GPathogenic
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 147284	GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)x1	ADGRE2, ADGRE3 +180 more	Copy number loss	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 144765	GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1	ADGRE2, ADGRE3 +237 more	Copy number loss	See cases	GPathogenic
Select item 147745	GRCh38/hg38 19p13.12(chr19:14406909-15410770)x1	LOC130063788, LOC130063789 +77 more	Copy number loss	See cases	GUncertain significance
Select item 2623484	NM_002741.5(PKN1):c.4G>A (p.Ala2Thr)	PKN1 (A2T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213931	NM_002741.5(PKN1):c.67G>A (p.Gly23Arg)	PKN1 (G23R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346861	NM_002741.5(PKN1):c.83C>T (p.Ala28Val)	PKN1 (A28V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300463	NM_002741.5(PKN1):c.178C>T (p.Arg60Trp)	PKN1 (R60W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213919	NM_002741.5(PKN1):c.247C>T (p.Arg83Cys)	PKN1 (R89C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493274	NM_002741.5(PKN1):c.263A>G (p.His88Arg)	PKN1 (H94R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403466	NM_002741.5(PKN1):c.292G>A (p.Val98Met)	PKN1 (V104M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593891	NM_002741.5(PKN1):c.362C>T (p.Ser121Leu)	PKN1 (S127L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295521	NM_002741.5(PKN1):c.378C>A (p.Ser126Arg)	PKN1 (S132R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213926	NM_002741.5(PKN1):c.380G>A (p.Arg127His)	PKN1 (R127H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774732	NM_002741.5(PKN1):c.435G>A (p.Ala145=)	PKN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2292101	NM_002741.5(PKN1):c.478C>G (p.Arg160Gly)	PKN1 (R160G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203863	NM_002741.5(PKN1):c.478C>T (p.Arg160Trp)	PKN1 (R160W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307059	NM_002741.5(PKN1):c.500A>G (p.Gln167Arg)	PKN1 (Q173R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213927	NM_002741.5(PKN1):c.549A>C (p.Gln183His)	PKN1 (Q183H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284883	NM_002741.5(PKN1):c.560C>T (p.Ala187Val)	PKN1 (A187V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213928	NM_002741.5(PKN1):c.568G>A (p.Ala190Thr)	PKN1 (A196T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284009	NM_002741.5(PKN1):c.614G>C (p.Ser205Thr)	PKN1 (S205T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213929	NM_002741.5(PKN1):c.631G>C (p.Val211Leu)	PKN1 (V211L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213930	NM_002741.5(PKN1):c.664T>A (p.Phe222Ile)	PKN1 (F222I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728835	NM_002741.5(PKN1):c.693T>C (p.Gly231=)	PKN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2264846	NM_002741.5(PKN1):c.743A>G (p.Lys248Arg)	PKN1 (K248R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770284	NM_002741.5(PKN1):c.771= (p.Leu257=)	PKN1	Variation (no sequence alteration)	not provided	GLikely benign
Select item 2564676	NM_002741.5(PKN1):c.777A>C (p.Glu259Asp)	PKN1 (E265D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213932	NM_002741.5(PKN1):c.905C>A (p.Thr302Asn)	PKN1 (T302N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544505	NM_002741.5(PKN1):c.949T>A (p.Cys317Ser)	PKN1 (C323S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213933	NM_002741.5(PKN1):c.962C>T (p.Pro321Leu)	PKN1 (P327L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213902	NM_002741.5(PKN1):c.992T>C (p.Val331Ala)	PKN1 (V331A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230665	NM_002741.5(PKN1):c.1022C>T (p.Pro341Leu)	PKN1 (P347L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213903	NM_002741.5(PKN1):c.1029C>G (p.Asn343Lys)	PKN1 (N349K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592934	NM_002741.5(PKN1):c.1042A>G (p.Met348Val)	PKN1 (M348V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3307055	NM_002741.5(PKN1):c.1072C>G (p.Pro358Ala)	PKN1 (P364A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213904	NM_002741.5(PKN1):c.1072C>T (p.Pro358Ser)	PKN1 (P364S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263832	NM_002741.5(PKN1):c.1075C>G (p.Pro359Ala)	PKN1 (P365A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346564	NM_002741.5(PKN1):c.1076C>A (p.Pro359His)	PKN1 (P359H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213906	NM_002741.5(PKN1):c.1087C>T (p.Arg363Cys)	PKN1 (R369C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307061	NM_002741.5(PKN1):c.1097G>C (p.Arg366Pro)	PKN1 (R372P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307054	NM_002741.5(PKN1):c.1097G>A (p.Arg366Gln)	PKN1 (R366Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225374	NM_002741.5(PKN1):c.1132C>T (p.Arg378Trp)	PKN1 (R378W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376990	NM_002741.5(PKN1):c.1213A>T (p.Thr405Ser)	PKN1 (T405S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237314	NM_002741.5(PKN1):c.1214C>T (p.Thr405Met)	PKN1 (T405M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213907	NM_002741.5(PKN1):c.1222A>G (p.Lys408Glu)	PKN1 (K414E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213908	NM_002741.5(PKN1):c.1238A>G (p.Asn413Ser)	PKN1 (N419S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2554850	NM_002741.5(PKN1):c.1279C>T (p.Arg427Trp)	PKN1 (R427W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279139	NM_002741.5(PKN1):c.1307G>A (p.Arg436Gln)	PKN1 (R442Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319037	NM_002741.5(PKN1):c.1315C>T (p.Arg439Trp)	PKN1 (R439W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307057	NM_002741.5(PKN1):c.1334A>G (p.Lys445Arg)	PKN1 (K445R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718842	NM_213560.3(PKN1):c.1437+7C>A	PKN1	Single nucleotide variant	not provided	GBenign
Select item 3213910	NM_002741.5(PKN1):c.1511G>A (p.Arg504His)	PKN1 (R504H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213911	NM_002741.5(PKN1):c.1574A>G (p.Asn525Ser)	PKN1 (N525S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307060	NM_002741.5(PKN1):c.1589G>A (p.Gly530Asp)	PKN1 (G530D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774238	NM_002741.5(PKN1):c.1620C>T (p.Ser540=)	PKN1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2512247	NM_002741.5(PKN1):c.1628G>A (p.Arg543Gln)	PKN1 (R549Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771514	NM_002741.5(PKN1):c.1663C>A (p.Leu555Ile)	PKN1 (L561I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2347166	NM_002741.5(PKN1):c.1666G>A (p.Gly556Ser)	PKN1 (G556S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213912	NM_002741.5(PKN1):c.1753A>G (p.Thr585Ala)	PKN1 (T591A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272073	NM_002741.5(PKN1):c.1762G>C (p.Glu588Gln)	PKN1 (E588Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235271	NM_002741.5(PKN1):c.1845C>A (p.Phe615Leu)	PKN1 (F615L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608510	NM_002741.5(PKN1):c.1868G>A (p.Arg623Gln)	PKN1 (R629Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213913	NM_002741.5(PKN1):c.1897G>A (p.Glu633Lys)	PKN1 (E639K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463830	NM_002741.5(PKN1):c.1924G>A (p.Ala642Thr)	PKN1 (A642T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213914	NM_002741.5(PKN1):c.1952T>C (p.Ile651Thr)	PKN1 (I657T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364316	NM_002741.5(PKN1):c.2063C>T (p.Pro688Leu)	PKN1 (P688L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306959	NM_002741.5(PKN1):c.2093C>T (p.Ser698Leu)	PKN1 (S698L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476286	NM_002741.5(PKN1):c.2144C>T (p.Pro715Leu)	PKN1 (P715L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213915	NM_002741.5(PKN1):c.2155T>C (p.Phe719Leu)	PKN1 (F719L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355391	NM_002741.5(PKN1):c.2202C>G (p.His734Gln)	PKN1 (H740Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213916	NM_002741.5(PKN1):c.2209G>A (p.Val737Ile)	PKN1 (V743I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478544	NM_002741.5(PKN1):c.2213A>G (p.Tyr738Cys)	PKN1 (Y738C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363648	NM_002741.5(PKN1):c.2312G>A (p.Arg771Gln)	PKN1 (R771Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213917	NM_002741.5(PKN1):c.2372C>T (p.Ser791Leu)	PKN1 (S791L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213918	NM_002741.5(PKN1):c.2383G>A (p.Ala795Thr)	PKN1 (A795T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288922	NM_002741.5(PKN1):c.2626A>G (p.Thr876Ala)	PKN1 (T876A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307056	NM_002741.5(PKN1):c.2654G>T (p.Arg885Leu)	PKN1 (R885L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213920	NM_002741.5(PKN1):c.2663C>T (p.Pro888Leu)	PKN1 (P894L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649422	NM_002741.5(PKN1):c.2715C>T (p.Asp905=)	PKN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3213921	NM_002741.5(PKN1):c.2735C>A (p.Ala912Asp)	PKN1 (A912D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213922	NM_002741.5(PKN1):c.2755C>T (p.Arg919Cys)	PKN1 (R925C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213923	NM_002741.5(PKN1):c.2786A>G (p.Gln929Arg)	PKN1 (Q929R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274464	NM_002741.5(PKN1):c.2788G>A (p.Ala930Thr)	PKN1 (A930T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213925	NM_002741.5(PKN1):c.2791G>A (p.Ala931Thr)	PKN1 (A931T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777292	NM_002741.5(PKN1):c.2817C>T (p.Ala939=)	PKN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 1526656	GRCh37/hg19 19p13.12-13.11(chr19:14124666-16431349)	ADGRE2, ADGRE3 +55 more	Copy number loss	not specified	GPathogenic
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 816068	GRCh37/hg19 19p13.12(chr19:14368330-15712368)x1	ADGRE2, ADGRE3 +30 more	Copy number loss	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443137	GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1	ADGRE5, ADGRL1 +64 more	Copy number loss	See cases	GPathogenic
Select item 442731	GRCh37/hg19 19p13.2-13.12(chr19:13592592-14717528)x1	ADGRE5, ADGRL1 +30 more	Copy number loss	See cases	GLikely pathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic
Select item 394375	GRCh37/hg19 19p13.12(chr19:14580590-14588566)x3	PKN1, PTGER1	Copy number gain	See cases	GLikely benign

ClinVar

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Items: 99