"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "CENPE"[ - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 753994	NM_001813.3(CENPE):c.8049G>A (p.Gln2683=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 792300	NM_001813.3(CENPE):c.7959A>G (p.Pro2653=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 745843	NM_001813.3(CENPE):c.7827T>G (p.Pro2609=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736661	NM_001813.3(CENPE):c.7821G>A (p.Lys2607=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 746376	NM_001813.3(CENPE):c.7773C>G (p.Thr2591=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 786043	NM_001813.3(CENPE):c.7764G>A (p.Lys2588=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 434692	NM_001813.3(CENPE):c.7602C>T (p.Ser2534=)	CENPE	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 756919	NM_001813.3(CENPE):c.7551A>G (p.Glu2517=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 797524	NM_001813.3(CENPE):c.7542G>A (p.Val2514=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 711862	NM_001813.3(CENPE):c.7389G>A (p.Lys2463=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 285171	NM_001813.3(CENPE):c.7222C>A (p.Gln2408Lys)	CENPE (Q2408K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 376761	NM_001813.3(CENPE):c.6974C>G (p.Ser2325Cys)	CENPE (S2325C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 720574	NM_001813.3(CENPE):c.6928A>G (p.Ile2310Val)	CENPE (I2189V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 717194	NM_001813.3(CENPE):c.6798A>G (p.Lys2266=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 760380	NM_001813.3(CENPE):c.6721-5C>T	CENPE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 763489	NM_001813.3(CENPE):c.6456T>C (p.Ile2152=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738844	NM_001813.3(CENPE):c.6435C>G (p.Pro2145=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 792848	NM_001813.3(CENPE):c.6240G>A (p.Arg2080=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 712347	NM_001813.3(CENPE):c.6165G>A (p.Arg2055=)	CENPE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 729015	NM_001813.3(CENPE):c.5994A>G (p.Glu1998=)	CENPE	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 709773	NM_001813.3(CENPE):c.5874A>G (p.Gln1958=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 789472	NM_001813.3(CENPE):c.5789G>A (p.Arg1930His)	CENPE (R1905H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 742128	NM_001813.3(CENPE):c.5478G>A (p.Lys1826=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 748306	NM_001813.3(CENPE):c.5166G>A (p.Glu1722=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 718687	NM_001813.3(CENPE):c.5082G>A (p.Val1694=)	CENPE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 751452	NM_001813.3(CENPE):c.5024A>G (p.His1675Arg)	CENPE (H1650R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 730850	NM_001813.3(CENPE):c.4988T>C (p.Ile1663Thr)	CENPE (I1638T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 762451	NM_001813.3(CENPE):c.4914G>A (p.Glu1638=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 721739	NM_001813.3(CENPE):c.4791A>G (p.Arg1597=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 434695	NM_001813.3(CENPE):c.4791A>C (p.Arg1597Ser)	CENPE (R1597S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 787271	NM_001813.3(CENPE):c.4774A>C (p.Lys1592Gln)	CENPE (K1567Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 780931	NM_001813.3(CENPE):c.4741A>C (p.Ser1581Arg)	CENPE (S1581R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776005	NM_001813.3(CENPE):c.4716C>T (p.Leu1572=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 751984	NM_001813.3(CENPE):c.4668T>C (p.His1556=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 730115	NM_001813.3(CENPE):c.4438A>G (p.Lys1480Glu)	CENPE (K1480E +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 786044	NM_001813.3(CENPE):c.4272C>T (p.Leu1424=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 445884	NM_001813.3(CENPE):c.4204A>G (p.Ile1402Val)	CENPE (I1402V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 788979	NM_001813.3(CENPE):c.4094A>T (p.His1365Leu)	CENPE (H1340L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 757375	NM_001813.3(CENPE):c.4092A>G (p.Lys1364=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 740621	NM_001813.3(CENPE):c.4068G>C (p.Thr1356=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 776006	NM_001813.3(CENPE):c.3803C>T (p.Thr1268Ile)	CENPE (T1243I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 434696	NM_001813.3(CENPE):c.3749C>G (p.Thr1250Ser)	CENPE (T1250S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 787272	NM_001813.3(CENPE):c.3529A>T (p.Met1177Leu)	CENPE (M1152L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 719172	NM_001813.3(CENPE):c.3465A>G (p.Lys1155=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 718275	NM_001813.3(CENPE):c.3195A>G (p.Glu1065=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 762345	NM_001813.3(CENPE):c.3081A>G (p.Gln1027=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729138	NM_001813.3(CENPE):c.2949A>G (p.Leu983=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 799138	NM_001813.3(CENPE):c.2706G>A (p.Thr902=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 776007	NM_001813.3(CENPE):c.2551T>G (p.Ser851Ala)	CENPE (S826A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 726514	NM_001813.3(CENPE):c.2287-6C>T	CENPE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 764848	NM_001813.3(CENPE):c.2172T>C (p.Asp724=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 787273	NM_001813.3(CENPE):c.1912A>G (p.Lys638Glu)	CENPE (K613E +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 745195	NM_001813.3(CENPE):c.1723-4T>A	CENPE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 729139	NM_001813.3(CENPE):c.1419T>C (p.Ser473=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 721780	NM_001813.3(CENPE):c.1266T>C (p.Thr422=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 745710	NM_001813.3(CENPE):c.1171A>T (p.Asn391Tyr)	CENPE (N391Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 748046	NM_001813.3(CENPE):c.1047A>G (p.Arg349=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741077	NM_001813.3(CENPE):c.984T>C (p.Tyr328=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 716820	NM_001813.3(CENPE):c.876C>T (p.Leu292=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 749173	NM_001813.3(CENPE):c.738C>T (p.Gly246=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 761712	NM_001813.3(CENPE):c.628-6A>G	CENPE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 735831	NM_001813.3(CENPE):c.627+10T>G	CENPE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 434700	NM_001813.3(CENPE):c.435C>T (p.Gly145=)	CENPE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 739317	NM_001813.3(CENPE):c.363T>G (p.Pro121=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 720575	NM_001813.3(CENPE):c.358-8del	CENPE	Deletion (intron variant)	not provided	GBenign
Select item 789728	NM_001813.3(CENPE):c.326C>G (p.Ala109Gly)	CENPE (A109G)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 738928	NM_001813.3(CENPE):c.255T>C (p.Tyr85=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 724885	NM_001813.3(CENPE):c.213C>T (p.Ile71=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717207	NM_001813.3(CENPE):c.149-27GTT[7]	CENPE	Microsatellite (intron variant)	not provided	GBenign
Select item 3246728	NC_000004.11:g.(?_101947022)_(104640852_?)del	BANK1, BDH2 +10 more	Deletion	not provided	GPathogenic
Select item 2445492	NC_000004.11:g.(?_101947022)_(107268849_?)dup	AIMP1, ARHGEF38 +19 more	Duplication	not provided	GUncertain significance
Select item 2424810	NC_000004.11:g.(?_101947022)_(106061534_?)del	TACR3, CISD2 +11 more	Deletion	not provided	GPathogenic
Select item 1456123	NC_000004.11:g.(?_101947022)_(104640832_?)del	BANK1, BDH2 +10 more	Deletion	Beta-D-mannosidosis	GPathogenic

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Items: 73