2172[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 545154	NC_000001.11:g.(?_204033173)_(208209798_?)del	LOC129932391, PIK3C2B +278 more	Deletion	Autism	GLikely pathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 2063243	NM_005076.5(CNTN2):c.8C>A (p.Thr3Lys)	CNTN2 (T3K)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 1473378	NM_005076.5(CNTN2):c.31C>G (p.Leu11Val)	CNTN2 (L11V)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 745406	NM_005076.5(CNTN2):c.39G>A (p.Leu13=)	CNTN2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 1489780	NM_005076.5(CNTN2):c.49G>A (p.Val17Met)	CNTN2 (V17M)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 1090810	NM_005076.5(CNTN2):c.51G>A (p.Val17=)	CNTN2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 1988812	NM_005076.5(CNTN2):c.57T>C (p.Leu19=)	CNTN2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 3146733	NM_005076.5(CNTN2):c.62C>T (p.Ser21Phe)	CNTN2 (S21F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 474487	NM_005076.5(CNTN2):c.63C>T (p.Ser21=)	CNTN2	Single nucleotide variant (synonymous variant +1 more)	CNTN2-related disorder +1 more	GBenign/Likely benign
Select item 1955260	NM_005076.5(CNTN2):c.69A>G (p.Ser23=)	CNTN2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2018122	NM_005076.5(CNTN2):c.70+8G>A	CNTN2	Single nucleotide variant (intron variant)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 1533958	NM_005076.5(CNTN2):c.70+16T>A	CNTN2	Single nucleotide variant (intron variant)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 1626021	NM_005076.5(CNTN2):c.71-19G>T	CNTN2	Single nucleotide variant (intron variant)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 1537901	NM_005076.5(CNTN2):c.71-19G>A	CNTN2	Single nucleotide variant (intron variant)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 1549590	NM_005076.5(CNTN2):c.71-7C>T	CNTN2	Single nucleotide variant (intron variant)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 2811415	NM_005076.5(CNTN2):c.71-6C>A	CNTN2	Single nucleotide variant (intron variant)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 1562321	NM_005076.5(CNTN2):c.71-6C>T	CNTN2	Single nucleotide variant (intron variant)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 1899799	NM_005076.5(CNTN2):c.85C>G (p.Leu29Val)	CNTN2 (L29V)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2782457	NM_005076.5(CNTN2):c.99C>T (p.Thr33=)	CNTN2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 2788222	NM_005076.5(CNTN2):c.102C>T (p.Thr34=)	CNTN2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 474457	NM_005076.5(CNTN2):c.105C>T (p.Phe35=)	CNTN2	Single nucleotide variant (synonymous variant +1 more)	CNTN2-related disorder +1 more	GBenign/Likely benign
Select item 1643554	NM_005076.5(CNTN2):c.123C>T (p.Asp41=)	CNTN2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 2809835	NM_005076.5(CNTN2):c.124C>T (p.Gln42Ter)	CNTN2 (Q42*)	Single nucleotide variant (nonsense +1 more)	Epilepsy, familial adult myoclonic, 5	GPathogenic
Select item 1515188	NM_005076.5(CNTN2):c.134G>A (p.Ser45Asn)	CNTN2 (S45N)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2027818	NM_005076.5(CNTN2):c.135T>C (p.Ser45=)	CNTN2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 2918823	NM_005076.5(CNTN2):c.141A>C (p.Leu47=)	CNTN2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 646247	NM_005076.5(CNTN2):c.158C>T (p.Thr53Met)	CNTN2 (T53M)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2888349	NM_005076.5(CNTN2):c.159_160delinsTT (p.Glu54Ter)	CNTN2 (E54*)	Indel (nonsense +1 more)	Epilepsy, familial adult myoclonic, 5	GPathogenic
Select item 762336	NM_005076.5(CNTN2):c.159G>A (p.Thr53=)	CNTN2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 1426504	NM_005076.5(CNTN2):c.169G>A (p.Val57Met)	CNTN2 (V57M)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 5 +1 more	GUncertain significance
Select item 2133747	NM_005076.5(CNTN2):c.172T>C (p.Leu58=)	CNTN2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 474469	NM_005076.5(CNTN2):c.178G>A (p.Ala60Thr)	CNTN2 (A60T)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 5	GBenign
Select item 2134305	NM_005076.5(CNTN2):c.179C>T (p.Ala60Val)	CNTN2 (A60V)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 571442	NM_005076.5(CNTN2):c.184C>T (p.Arg62Cys)	CNTN2 (R62C)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 1025398	NM_005076.5(CNTN2):c.185G>A (p.Arg62His)	CNTN2 (R62H)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 474470	NM_005076.5(CNTN2):c.186C>T (p.Arg62=)	CNTN2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 2164705	NM_005076.5(CNTN2):c.187G>A (p.Ala63Thr)	CNTN2 (A63T)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2096803	NM_005076.5(CNTN2):c.188C>A (p.Ala63Asp)	CNTN2 (A63D)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 1994929	NM_005076.5(CNTN2):c.190C>T (p.Arg64Trp)	CNTN2 (R64W)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 1441919	NM_005076.5(CNTN2):c.191G>A (p.Arg64Gln)	CNTN2 (R64Q)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 1663179	NM_005076.5(CNTN2):c.198C>T (p.Ser66=)	CNTN2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 1429882	NM_005076.5(CNTN2):c.208A>T (p.Thr70Ser)	CNTN2 (T70S)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 772060	NM_005076.5(CNTN2):c.214C>T (p.Arg72Trp)	CNTN2 (R72W)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1974747	NM_005076.5(CNTN2):c.215G>C (p.Arg72Pro)	CNTN2 (R72P)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 1380566	NM_005076.5(CNTN2):c.215G>A (p.Arg72Gln)	CNTN2 (R72Q)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2151270	NM_005076.5(CNTN2):c.215+6G>T	CNTN2	Single nucleotide variant (intron variant)	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 848625	NM_005076.5(CNTN2):c.215+6G>A	CNTN2	Single nucleotide variant (intron variant)	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 541410	NM_005076.5(CNTN2):c.215+6G>C	CNTN2	Single nucleotide variant (intron variant)	Epilepsy, familial adult myoclonic, 5 +1 more	GConflicting classifications of pathogenicity
Select item 2980935	NM_005076.5(CNTN2):c.215+11T>G	CNTN2	Single nucleotide variant (intron variant)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 1623738	NM_005076.5(CNTN2):c.215+12G>A	CNTN2	Single nucleotide variant (intron variant)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 2919383	NM_005076.5(CNTN2):c.215+20T>G	CNTN2	Single nucleotide variant (intron variant)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 2872198	NM_005076.5(CNTN2):c.216-19C>T	CNTN2	Single nucleotide variant (intron variant)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 2055379	NM_005076.5(CNTN2):c.216-18C>T	CNTN2	Single nucleotide variant (intron variant)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 1624372	NM_005076.5(CNTN2):c.216-15T>G	CNTN2	Single nucleotide variant (intron variant)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 1096972	NM_005076.5(CNTN2):c.216-9C>T	CNTN2	Single nucleotide variant (intron variant)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 2815766	NM_005076.5(CNTN2):c.222G>A (p.Lys74=)	CNTN2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 581019	NM_005076.5(CNTN2):c.223A>G (p.Met75Val)	CNTN2 (M75V)	Single nucleotide variant (missense variant +1 more)	CNTN2-related disorder +2 more	GBenign/Likely benign
Select item 2729557	NM_005076.5(CNTN2):c.234C>T (p.Thr78=)	CNTN2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 567426	NM_005076.5(CNTN2):c.235G>A (p.Glu79Lys)	CNTN2 (E79K)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 1563151	NM_005076.5(CNTN2):c.238A>G (p.Met80Val)	CNTN2 (M80V)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 1713339	NM_005076.5(CNTN2):c.240G>A (p.Met80Ile)	CNTN2 (M80I)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 966634	NM_005076.5(CNTN2):c.256T>C (p.Ser86Pro)	CNTN2 (S86P)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2038018	NM_005076.5(CNTN2):c.260G>A (p.Arg87His)	CNTN2 (R87H)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 5 +1 more	GUncertain significance
Select item 1539991	NM_005076.5(CNTN2):c.261T>C (p.Arg87=)	CNTN2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 1025288	NM_005076.5(CNTN2):c.271G>A (p.Val91Met)	CNTN2 (V91M)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2907628	NM_005076.5(CNTN2):c.273G>C (p.Val91=)	CNTN2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 2889246	NM_005076.5(CNTN2):c.273G>T (p.Val91=)	CNTN2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 2047055	NM_005076.5(CNTN2):c.274G>C (p.Gly92Arg)	CNTN2 (G92R)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 1154428	NM_005076.5(CNTN2):c.283C>T (p.Leu95=)	CNTN2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 474482	NM_005076.5(CNTN2):c.297C>T (p.Asn99=)	CNTN2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1347580	NM_005076.5(CNTN2):c.298C>T (p.Pro100Ser)	CNTN2 (P100S)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 853752	NM_005076.5(CNTN2):c.305A>C (p.Lys102Thr)	CNTN2 (K102T)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 5 +1 more	GUncertain significance
Select item 2034936	NM_005076.5(CNTN2):c.306G>A (p.Lys102=)	CNTN2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 1998355	NM_005076.5(CNTN2):c.308C>T (p.Ala103Val)	CNTN2 (A103V)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2062165	NM_005076.5(CNTN2):c.317C>G (p.Ala106Gly)	CNTN2 (A106G)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 1096117	NM_005076.5(CNTN2):c.318C>G (p.Ala106=)	CNTN2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 767081	NM_005076.5(CNTN2):c.318C>T (p.Ala106=)	CNTN2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 1393734	NM_005076.5(CNTN2):c.325T>G (p.Tyr109Asp)	CNTN2 (Y109D)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 1382995	NM_005076.5(CNTN2):c.337G>C (p.Ala113Pro)	CNTN2 (A113P)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2740966	NM_005076.5(CNTN2):c.342C>T (p.Ser114=)	CNTN2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 1462275	NM_005076.5(CNTN2):c.351G>A (p.Val117=)	CNTN2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 474483	NM_005076.5(CNTN2):c.358G>A (p.Val120Ile)	CNTN2 (V120I)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2998286	NM_005076.5(CNTN2):c.369G>A (p.Arg123=)	CNTN2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 846016	NM_005076.5(CNTN2):c.383G>A (p.Arg128His)	CNTN2 (R128H)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2731976	NM_005076.5(CNTN2):c.387C>T (p.Phe129=)	CNTN2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 1475671	NM_005076.5(CNTN2):c.388G>A (p.Gly130Ser)	CNTN2 (G130S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2805312	NM_005076.5(CNTN2):c.391+7C>G	CNTN2	Single nucleotide variant (intron variant)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 2816264	NM_005076.5(CNTN2):c.391+8C>G	CNTN2	Single nucleotide variant (intron variant)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 1647984	NM_005076.5(CNTN2):c.391+9C>T	CNTN2	Single nucleotide variant (intron variant)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 1659214	NM_005076.5(CNTN2):c.391+11C>T	CNTN2	Single nucleotide variant (intron variant)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 1649653	NM_005076.5(CNTN2):c.391+12G>A	CNTN2	Single nucleotide variant (intron variant)	Epilepsy, familial adult myoclonic, 5	GBenign/Likely benign
Select item 1563182	NM_005076.5(CNTN2):c.391+13G>A	CNTN2	Single nucleotide variant (intron variant)	Epilepsy, familial adult myoclonic, 5	GBenign
Select item 2028522	NM_005076.5(CNTN2):c.391+18C>T	CNTN2	Single nucleotide variant (intron variant)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 1563656	NM_005076.5(CNTN2):c.392-19C>T	CNTN2	Single nucleotide variant (intron variant)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 1628239	NM_005076.5(CNTN2):c.392-14G>T	CNTN2	Single nucleotide variant (intron variant)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 1102826	NM_005076.5(CNTN2):c.394C>T (p.Leu132=)	CNTN2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, familial adult myoclonic, 5	GLikely benign
Select item 949410	NM_005076.5(CNTN2):c.415G>A (p.Glu139Lys)	CNTN2 (E139K)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 1939902	NM_005076.5(CNTN2):c.418C>T (p.Arg140Ter)	CNTN2 (R140*)	Single nucleotide variant (nonsense +1 more)	Epilepsy, familial adult myoclonic, 5	GConflicting classifications of pathogenicity

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