PCNX2[gene] - ClinVar

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Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1325 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	ABCB10, ACBD3 +1167 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	LOC129932646, LOC129932647 +967 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LOC129932948, LOC129932949 +954 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC129932666, LOC129932667 +954 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	LOC128772241, LOC128772242 +952 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	SCCPDH, SDCCAG8 +951 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932613, LOC129932614 +949 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC129932859, LOC129932860 +869 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	LOC129932775, LOC129932776 +655 more	Copy number gain	See cases	GPathogenic
Select item 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	ACTN2, AGT +378 more	Copy number loss	See cases	GPathogenic
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 151105	GRCh38/hg38 1q42.2(chr1:232404562-233269974)x3	LINC01744, LINC01745 +25 more	Copy number gain	See cases	GLikely benign
Select item 155293	GRCh38/hg38 1q42.2(chr1:232884821-233090102)x1	LOC126806047, LOC126806048 +3 more	Copy number loss	See cases	GUncertain significance
Select item 2408373	NM_014801.4(PCNX2):c.6277G>A (p.Glu2093Lys)	PCNX2 (E2093K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723219	NM_014801.4(PCNX2):c.6243C>T (p.His2081=)	PCNX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780328	NM_014801.4(PCNX2):c.6180A>T (p.Ser2060=)	PCNX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 743200	NM_014801.4(PCNX2):c.6126C>T (p.Leu2042=)	PCNX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640084	NM_014801.4(PCNX2):c.6039C>A (p.Ala2013=)	PCNX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2249343	NM_014801.4(PCNX2):c.5637T>A (p.Ser1879Arg)	PCNX2 (S1879R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207394	NM_014801.4(PCNX2):c.5248C>T (p.Arg1750Trp)	PCNX2 (R1750W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374338	NM_014801.4(PCNX2):c.4757C>T (p.Pro1586Leu)	PCNX2 (P1586L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2975927	NM_014801.4(PCNX2):c.4606-11_4606-10insGCTTTAGAATAGCTGTGAGGACTCAAAATCTT	PCNX2	Insertion (intron variant)	not provided	GBenign
Select item 738690	NM_014801.4(PCNX2):c.4545C>T (p.Asn1515=)	PCNX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2207281	NM_014801.4(PCNX2):c.4517T>C (p.Leu1506Pro)	PCNX2 (L1506P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640085	NM_014801.4(PCNX2):c.4248C>T (p.Gly1416=)	PCNX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 212725	NM_014801.4(PCNX2):c.4125_4126del (p.Asp1377fs)	PCNX2 (D1377fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 2234864	NM_014801.4(PCNX2):c.3994A>G (p.Thr1332Ala)	PCNX2 (T1332A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721141	NM_014801.4(PCNX2):c.3838-10T>C	PCNX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 212726	NM_014801.4(PCNX2):c.3526C>T (p.His1176Tyr)	PCNX2 (H1176Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256390	NM_014801.4(PCNX2):c.3316G>T (p.Ala1106Ser)	PCNX2 (A1106S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640086	NM_014801.4(PCNX2):c.3276G>A (p.Thr1092=)	PCNX2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2231662	NM_014801.4(PCNX2):c.3149G>A (p.Arg1050His)	PCNX2 (R1050H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210395	NM_014801.4(PCNX2):c.3071C>A (p.Pro1024Gln)	LOC126806050, PCNX2 (P1024Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230399	NM_014801.4(PCNX2):c.3019G>A (p.Val1007Ile)	PCNX2 (V1007I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2640087	NM_014801.4(PCNX2):c.2929A>G (p.Thr977Ala)	PCNX2 (T977A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2223687	NM_014801.4(PCNX2):c.2913A>C (p.Gln971His)	PCNX2 (Q971H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783967	NM_014801.4(PCNX2):c.2503C>A (p.Arg835=)	PCNX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2365725	NM_014801.4(PCNX2):c.2389T>C (p.Cys797Arg)	PCNX2 (C797R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286612	NM_014801.4(PCNX2):c.2360A>G (p.His787Arg)	PCNX2 (H787R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378812	NM_014801.4(PCNX2):c.2345C>T (p.Ser782Leu)	PCNX2 (S782L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355961	NM_014801.4(PCNX2):c.2273C>T (p.Pro758Leu)	PCNX2 (P758L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347325	NM_014801.4(PCNX2):c.2092T>C (p.Ser698Pro)	PCNX2 (S698P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640088	NM_014801.4(PCNX2):c.1834+5G>A	LOC126806051, PCNX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2361896	NM_014801.4(PCNX2):c.1795G>A (p.Gly599Ser)	LOC126806051, PCNX2 (G599S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234607	NM_014801.4(PCNX2):c.1684G>C (p.Asp562His)	LOC126806051, PCNX2 (D562H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210394	NM_014801.4(PCNX2):c.1651G>A (p.Asp551Asn)	LOC126806051, PCNX2 (D551N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364685	NM_014801.4(PCNX2):c.1550C>T (p.Ser517Leu)	LOC126806051, PCNX2 (S517L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2640089	NM_014801.4(PCNX2):c.1506C>T (p.Ser502=)	LOC126806051, PCNX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2254610	NM_014801.4(PCNX2):c.1477G>T (p.Val493Leu)	LOC126806051, PCNX2 (V493L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391990	NM_014801.4(PCNX2):c.1315G>C (p.Gly439Arg)	LOC126806051, PCNX2 (G439R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376421	NM_014801.4(PCNX2):c.1279T>C (p.Ser427Pro)	LOC126806051, PCNX2 (S427P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277418	NM_014801.4(PCNX2):c.1163C>A (p.Thr388Lys)	LOC126806051, PCNX2 (T388K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780329	NM_014801.4(PCNX2):c.657C>G (p.Ala219=)	PCNX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2234511	NM_014801.4(PCNX2):c.541C>T (p.Pro181Ser)	PCNX2 (P181S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685910	GRCh37/hg19 1q42.2(chr1:233335851-234100031)x1	KCNK1, MAP3K21 +2 more	Copy number loss	not provided	GUncertain significance
Select item 2685899	GRCh37/hg19 1q42.2(chr1:233127416-233327597)x1	PCNX2	Copy number loss	not provided	GUncertain significance
Select item 2685865	GRCh37/hg19 1q42.13-43(chr1:230231959-238032346)x1	ACTN2, AGT +45 more	Copy number loss	not provided	GPathogenic
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
Select item 1810315	GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3	ABCB10, ACBD3 +113 more	Copy number gain	not provided	Gnot provided
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1809265	GRCh37/hg19 1q42.13-43(chr1:227992928-236659905)x3	ABCB10, ACTA1 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 1809015	GRCh37/hg19 1q42.2-43(chr1:232827966-240750334)x1	ACTN2, ARID4B +30 more	Copy number loss	not provided	GUncertain significance
Select item 1809009	GRCh37/hg19 1q42.2-43(chr1:232895447-238787061)x1	ACTN2, ARID4B +27 more	Copy number loss	not provided	GUncertain significance
Select item 1808986	GRCh37/hg19 1q42.2(chr1:233120053-233572283)x3	MAP3K21, PCNX2	Copy number gain	not provided	GUncertain significance
Select item 1808740	GRCh37/hg19 1q42.2-43(chr1:232732121-243338216)x1	ACTN2, ARID4B +40 more	Copy number loss	not provided	GPathogenic
Select item 1808086	GRCh37/hg19 1q42.2(chr1:231949332-233142053)x1	DISC1, DISC2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1711168	GRCh37/hg19 1q42.2-44(chr1:233012994-249206918)x1	OR2T12, OR2T2 +109 more	Copy number loss	See cases	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1701131	GRCh37/hg19 1q42.2-42.3(chr1:233086457-234745240)x1	COA6, IRF2BP2 +6 more	Copy number loss	not provided	GUncertain significance
Select item 1527626	GRCh37/hg19 1q42.2-43(chr1:232226609-241010904)	ACTN2, ARID4B +32 more	Copy number loss	not specified	GPathogenic
Select item 1180519	GRCh37/hg19 1q42.2-43(chr1:231407943-237289859)x1	ACTN2, ARID4B +34 more	Copy number loss	not provided	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 979939	GRCh37/hg19 1q42.2(chr1:233385564-233449656)x1	PCNX2	Copy number loss	not provided	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814175	GRCh37/hg19 1q42.13-43(chr1:228832737-240993877)x3	ERO1B, EXOC8 +59 more	Copy number gain	not provided	GPathogenic
Select item 814168	GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1	FBXO28, ACBD3 +83 more	Copy number loss	not provided	GPathogenic
Select item 814163	GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3	CCDC185, NTPCR +127 more	Copy number gain	not provided	GPathogenic
Select item 688831	GRCh37/hg19 1q42.2(chr1:232433695-233376150)x1	MAP10, NTPCR +2 more	Copy number loss	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 684958	GRCh37/hg19 1q42.2(chr1:233207644-233248208)x1	PCNX2	Copy number loss	not provided	GUncertain significance
Select item 565236	GRCh37/hg19 1q42.2(chr1:232742828-234398133)x1	MAP3K21, MAP10 +4 more	Copy number loss	not provided	GUncertain significance
Select item 565232	GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3	ABCB10, ACTA1 +145 more	Copy number gain	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
Select item 442753	GRCh37/hg19 1q42.2(chr1:232539261-233425535)x3	MAP10, NTPCR +2 more	Copy number gain	See cases	GLikely benign
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 441866	GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3	ABCB10, ACBD3 +184 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	EGLN1, EIF2D +393 more	Copy number gain	See cases	GPathogenic
Select item 393997	GRCh37/hg19 1q42.2-44(chr1:231670870-249213000)x3	GCSAML, GGPS1 +114 more	Copy number gain	See cases	GPathogenic
Select item 253962	GRCh37/hg19 1q42.2(chr1:233234142-234435116)x3	SLC35F3, MAP3K21 +2 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Items: 94