"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "UBE3A"[ - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 584203	NC_000015.10:g.(?_24566038)_(25781223_?)del	SNORD64, ATP10A +101 more	Deletion	Angelman syndrome	GPathogenic
Select item 417431	NC_000015.9:g.(?_25582396)_(25650653_?)dup	SNHG14, UBE3A	Duplication	Angelman syndrome	GUncertain significance
Select item 241833	NM_130838.1(UBE3A):c.-44_*1888del	SNHG14, UBE3A	Deletion	Angelman syndrome	GPathogenic
Select item 583426	NC_000015.9:g.(?_25584264)_(25620930_?)dup	SNHG14, UBE3A	Duplication	Angelman syndrome	GUncertain significance
Select item 458664	NC_000015.9:g.(?_25584264)_(25654274_?)dup	SNHG14, UBE3A	Duplication	Angelman syndrome	GPathogenic
Select item 458663	NC_000015.10:g.(?_25339117)_(25409127_?)del	SNHG14, UBE3A	Deletion	Angelman syndrome	GPathogenic
Select item 96262	NM_130839.5(UBE3A):c.2618A>G (p.Ter873=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 1535240	NM_130839.5(UBE3A):c.2614C>T (p.Leu872=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	Angelman syndrome	GLikely benign
Select item 961399	NM_130839.5(UBE3A):c.2600_2604dup (p.Phe869fs)	SNHG14, UBE3A (F452fs +8 more)	Duplication (frameshift variant +1 more)	Angelman syndrome	GLikely pathogenic
Select item 573621	NM_130839.5(UBE3A):c.2604A>T (p.Gly868=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	Angelman syndrome	GLikely benign
Select item 2920038	NM_130839.5(UBE3A):c.2592G>C (p.Thr864=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	Angelman syndrome	GLikely benign
Select item 378845	NM_130839.5(UBE3A):c.2592G>A (p.Thr864=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	Angelman syndrome +2 more	GBenign/Likely benign
Select item 3013633	NM_130839.5(UBE3A):c.2591C>T (p.Thr864Met)	SNHG14, UBE3A (T844M +8 more)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome	GUncertain significance
Select item 2046662	NM_130839.5(UBE3A):c.2586C>T (p.Ala862=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2853973	NM_130839.5(UBE3A):c.2565_2584dup (p.Ala862delinsValLysArgAspCysTer)	SNHG14, UBE3A	Duplication (nonsense +1 more)	Angelman syndrome	GPathogenic
Select item 2137230	NM_130839.5(UBE3A):c.2575T>C (p.Leu859=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	Angelman syndrome	GLikely benign
Select item 160220	NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)	SNHG14, UBE3A (K859fs +8 more)	Deletion (frameshift variant +1 more)	Angelman syndrome	GPathogenicFDA Recognized database
Select item 217365	NM_130839.5(UBE3A):c.2563_2568del (p.Leu855_Lys856del)	SNHG14, UBE3A	Deletion (inframe_deletion +1 more)	Angelman syndrome	GPathogenicFDA Recognized database
Select item 212535	NM_130839.5(UBE3A):c.2563_2567dup (p.Lys856fs)	SNHG14, UBE3A (K419fs +8 more)	Duplication (frameshift variant +1 more)	Angelman syndrome	GPathogenic
Select item 155984	NM_130839.5(UBE3A):c.2567_2568del (p.Lys856fs)	SNHG14, UBE3A (K439fs +8 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 96261	NM_130839.5(UBE3A):c.2563_2566del (p.Leu855fs)	SNHG14, UBE3A (L796fs +8 more)	Deletion (frameshift variant +1 more)	Angelman syndrome +1 more	GPathogenic
Select item 2835088	NM_130839.5(UBE3A):c.2545_2560dup (p.Lys854fs)	SNHG14, UBE3A (K417fs +8 more)	Duplication (frameshift variant +1 more)	Angelman syndrome	GPathogenic
Select item 155982	NM_130839.5(UBE3A):c.2557_2560dup (p.Lys854fs)	SNHG14, UBE3A (K437fs +8 more)	Duplication (frameshift variant +1 more)	Angelman syndrome	GPathogenic
Select item 2785538	NM_130839.5(UBE3A):c.2557G>C (p.Glu853Gln)	SNHG14, UBE3A (E794Q +8 more)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome	GUncertain significance
Select item 408432	NM_130839.5(UBE3A):c.2535_2551del (p.Leu846fs)	SNHG14, UBE3A (L409fs +8 more)	Deletion (frameshift variant +1 more)	Angelman syndrome	GPathogenic
Select item 155981	NM_130839.5(UBE3A):c.2549C>G (p.Ser850Ter)	SNHG14, UBE3A (S830* +8 more)	Single nucleotide variant (nonsense +1 more)	Angelman syndrome	GPathogenic
Select item 2762902	NM_130839.5(UBE3A):c.2547C>T (p.Tyr849=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	Angelman syndrome	GLikely benign
Select item 155992	NM_130839.5(UBE3A):c.2540C>T (p.Pro847Leu)	SNHG14, UBE3A (P827L +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 1073548	NM_130839.5(UBE3A):c.2515_2531dup (p.Leu846fs)	SNHG14, UBE3A (L409fs +8 more)	Duplication (frameshift variant +1 more)	Angelman syndrome	GPathogenic
Select item 2759552	NM_130839.5(UBE3A):c.2521T>G (p.Phe841Val)	SNHG14, UBE3A (F424V +8 more)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome	GUncertain significance
Select item 1646703	NM_130839.5(UBE3A):c.2508A>C (p.Thr836=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	Angelman syndrome	GLikely benign
Select item 2816277	NM_130839.5(UBE3A):c.2506A>G (p.Thr836Ala)	SNHG14, UBE3A (T399A +8 more)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome	GUncertain significance
Select item 2824987	NM_130839.5(UBE3A):c.2503C>A (p.Pro835Thr)	SNHG14, UBE3A (P398T +8 more)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome	GUncertain significance
Select item 1543752	NM_130839.5(UBE3A):c.2499-6A>G	SNHG14, UBE3A	Single nucleotide variant (intron variant)	Angelman syndrome	GLikely benign
Select item 1645745	NM_130839.5(UBE3A):c.2499-10C>T	SNHG14, UBE3A	Single nucleotide variant (intron variant)	Angelman syndrome	GLikely benign
Select item 2066571	NM_130839.5(UBE3A):c.2499-12T>C	SNHG14, UBE3A	Single nucleotide variant (intron variant)	Angelman syndrome	GLikely benign
Select item 2845466	NM_130839.5(UBE3A):c.2499-14T>G	SNHG14, UBE3A	Single nucleotide variant (intron variant)	Angelman syndrome	GLikely benign
Select item 1546864	NM_130839.5(UBE3A):c.2499-19dup	SNHG14, UBE3A	Duplication (intron variant)	Angelman syndrome	GBenign
Select item 2732906	NM_130839.5(UBE3A):c.2499-19del	SNHG14, UBE3A	Deletion (intron variant)	Angelman syndrome	GBenign
Select item 2887413	NM_130839.5(UBE3A):c.2498+19G>C	SNHG14, UBE3A	Single nucleotide variant (intron variant)	Angelman syndrome	GLikely benign
Select item 1018622	NM_130839.5(UBE3A):c.2498+3A>G	SNHG14, UBE3A	Single nucleotide variant (intron variant)	Angelman syndrome	GUncertain significance
Select item 1423106	NM_130839.5(UBE3A):c.2498+2T>C	SNHG14, UBE3A	Single nucleotide variant (splice donor variant)	Angelman syndrome	GPathogenic
Select item 2698552	NM_130839.5(UBE3A):c.2470A>G (p.Ile824Val)	SNHG14, UBE3A (I387V +8 more)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome	GUncertain significance
Select item 2175282	NM_130839.5(UBE3A):c.2464A>T (p.Met822Leu)	SNHG14, UBE3A (M750L +8 more)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome	GUncertain significance
Select item 654655	NM_130839.5(UBE3A):c.2444G>A (p.Gly815Glu)	SNHG14, UBE3A (G398E +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 764976	NM_130839.5(UBE3A):c.2442G>A (p.Val814=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	Angelman syndrome	GLikely benign
Select item 1415881	NM_130839.5(UBE3A):c.2430_2433dup (p.Ala812fs)	SNHG14, UBE3A (A737fs +8 more)	Microsatellite (frameshift variant +1 more)	Angelman syndrome	GPathogenic
Select item 155976	NM_130839.5(UBE3A):c.2430_2433del (p.Asp810fs)	SNHG14, UBE3A (D735fs +8 more)	Microsatellite (frameshift variant +1 more)	Angelman syndrome +1 more	GPathogenic
Select item 588265	NM_130839.5(UBE3A):c.2430C>T (p.Asp810=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 665896	NM_130839.5(UBE3A):c.2426_2427del (p.Thr809fs)	SNHG14, UBE3A (T757fs +8 more)	Microsatellite (frameshift variant +1 more)	Angelman syndrome	GPathogenic
Select item 1067820	NM_130839.5(UBE3A):c.2423G>A (p.Gly808Asp)	SNHG14, UBE3A (G371D +8 more)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome	GLikely pathogenic
Select item 1011641	NM_130839.5(UBE3A):c.2421G>A (p.Thr807=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	Angelman syndrome	GLikely benign
Select item 156679	NM_130839.5(UBE3A):c.2420C>T (p.Thr807Met)	SNHG14, UBE3A (T787M +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 418562	NM_130839.5(UBE3A):c.2419A>G (p.Thr807Ala)	SNHG14, UBE3A (T787A +8 more)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome	GUncertain significanceFDA Recognized database
Select item 1043090	NM_130839.5(UBE3A):c.2416A>G (p.Thr806Ala)	SNHG14, UBE3A (T734A +8 more)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome	GUncertain significance
Select item 137887	NM_130839.5(UBE3A):c.2415T>C (p.Phe805=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	Angelman syndrome	GUncertain significanceFDA Recognized database
Select item 458666	NM_130839.5(UBE3A):c.2406_2414del (p.Leu803_Phe805del)	SNHG14, UBE3A	Deletion (inframe_deletion +1 more)	Angelman syndrome	GLikely pathogenic
Select item 378844	NM_130839.5(UBE3A):c.2402T>A (p.Leu801His)	SNHG14, UBE3A (L781H +8 more)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome +1 more	GUncertain significance
Select item 2162613	NM_130839.5(UBE3A):c.2391A>T (p.Glu797Asp)	SNHG14, UBE3A (E722D +8 more)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome	GUncertain significance
Select item 2739441	NM_130839.5(UBE3A):c.2388T>C (p.Asp796=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	Angelman syndrome	GLikely benign
Select item 1430133	NM_130839.5(UBE3A):c.2385del (p.Asp796fs)	SNHG14, UBE3A (D379fs +8 more)	Deletion (frameshift variant +1 more)	Angelman syndrome	GPathogenic
Select item 845525	NM_130839.5(UBE3A):c.2378_2381del (p.Ser793fs)	SNHG14, UBE3A (S376fs +8 more)	Microsatellite (frameshift variant +1 more)	Angelman syndrome	GPathogenic
Select item 389276	NM_130839.5(UBE3A):c.2370C>T (p.Ile790=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	Angelman syndrome +2 more	GLikely benign
Select item 156626	NM_130839.5(UBE3A):c.2355G>A (p.Arg785=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	Angelman syndrome +1 more	GUncertain significance
Select item 934151	NM_130839.5(UBE3A):c.2355-3T>C	SNHG14, UBE3A	Single nucleotide variant (intron variant)	Angelman syndrome	GUncertain significance
Select item 528368	NM_130839.5(UBE3A):c.2355-6_2355-5insTAAT	SNHG14, UBE3A	Insertion (intron variant)	Angelman syndrome	GLikely benign
Select item 583861	NC_000015.10:g.(?_25354333)_(25360547_?)del	SNHG14, UBE3A	Deletion	Angelman syndrome	GPathogenic
Select item 1660829	NM_130839.5(UBE3A):c.2354+16C>T	SNHG14, UBE3A	Single nucleotide variant (intron variant)	Angelman syndrome	GLikely benign
Select item 1658559	NM_130839.5(UBE3A):c.2354+13del	SNHG14, UBE3A	Deletion (intron variant)	Angelman syndrome	GLikely benign
Select item 1553554	NM_130839.5(UBE3A):c.2354+12A>G	SNHG14, UBE3A	Single nucleotide variant (intron variant)	Angelman syndrome	GLikely benign
Select item 528360	NM_130839.5(UBE3A):c.2354+10T>C	SNHG14, UBE3A	Single nucleotide variant (intron variant)	Angelman syndrome	GLikely benign
Select item 2035408	NM_130839.5(UBE3A):c.2354+7T>A	SNHG14, UBE3A	Single nucleotide variant (intron variant)	Angelman syndrome	GLikely benign
Select item 1461005	NM_130839.5(UBE3A):c.2354+6G>A	SNHG14, UBE3A	Single nucleotide variant (intron variant)	Angelman syndrome	GUncertain significance
Select item 2202470	NM_130839.5(UBE3A):c.2352T>C (p.Ile784=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	Angelman syndrome	GLikely benign
Select item 2880626	NM_130839.5(UBE3A):c.2345T>C (p.Val782Ala)	SNHG14, UBE3A (V365A +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 934588	NM_130839.5(UBE3A):c.2344_2345del (p.Val782fs)	SNHG14, UBE3A (V345fs +8 more)	Deletion (frameshift variant +1 more)	Angelman syndrome	GPathogenic
Select item 156124	NM_130839.5(UBE3A):c.2344G>A (p.Val782Ile)	SNHG14, UBE3A (V762I +8 more)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome	GUncertain significanceFDA Recognized database
Select item 2025035	NM_130839.5(UBE3A):c.2343T>C (p.Ser781=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	Angelman syndrome	GLikely benign
Select item 2799432	NM_130839.5(UBE3A):c.2328C>A (p.Gly776=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	Angelman syndrome	GLikely benign
Select item 573464	NM_130839.5(UBE3A):c.2323G>A (p.Gly775Ser)	SNHG14, UBE3A (G755S +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 588417	NM_130839.5(UBE3A):c.2322C>T (p.Asp774=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 1112990	NM_130839.5(UBE3A):c.2313A>G (p.Thr771=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	Angelman syndrome	GLikely benign
Select item 1988458	NM_130839.5(UBE3A):c.2301A>G (p.Leu767=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	Angelman syndrome	GLikely benign
Select item 1967781	NM_130839.5(UBE3A):c.2295A>G (p.Gln765=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	Angelman syndrome	GLikely benign
Select item 1372415	NM_130839.5(UBE3A):c.2286_2291dup (p.Leu762_Asp763dup)	SNHG14, UBE3A	Duplication (inframe_insertion +1 more)	Angelman syndrome	GUncertain significance
Select item 742116	NM_130839.5(UBE3A):c.2281-9A>G	SNHG14, UBE3A	Single nucleotide variant (intron variant)	Angelman syndrome	GLikely benign
Select item 379062	NM_130839.5(UBE3A):c.2281-15T>C	SNHG14, UBE3A	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 386114	NM_130839.5(UBE3A):c.2281-20A>G	SNHG14, UBE3A	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1530862	NM_130839.5(UBE3A):c.2280+18T>G	SNHG14, UBE3A	Single nucleotide variant (intron variant)	Angelman syndrome	GLikely benign
Select item 379814	NM_130839.5(UBE3A):c.2280+17C>T	SNHG14, UBE3A	Single nucleotide variant (intron variant)	Angelman syndrome +1 more	GLikely benign
Select item 1897075	NM_130839.5(UBE3A):c.2280+14dup	SNHG14, UBE3A	Duplication (intron variant)	Angelman syndrome	GLikely benign
Select item 934467	NM_130839.5(UBE3A):c.2279G>A (p.Arg760Gln)	SNHG14, UBE3A (R323Q +6 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GUncertain significance
Select item 2866104	NM_130839.5(UBE3A):c.2268A>C (p.Ile756=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	Angelman syndrome	GLikely benign
Select item 1481700	NM_130839.5(UBE3A):c.2265_2267dup (p.Ile756dup)	SNHG14, UBE3A	Duplication (inframe_insertion +2 more)	Angelman syndrome	GLikely pathogenic
Select item 1008062	NM_130839.5(UBE3A):c.2263C>G (p.Leu755Val)	SNHG14, UBE3A (L318V +6 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GUncertain significance
Select item 981393	NM_130839.5(UBE3A):c.2255T>C (p.Ile752Thr)	SNHG14, UBE3A (I315T +6 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1609033	NM_130839.5(UBE3A):c.2247A>G (p.Pro749=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	Angelman syndrome	GLikely benign
Select item 1303864	NM_130839.5(UBE3A):c.2238_2240del (p.Leu746del)	SNHG14, UBE3A (L309del +6 more)	Deletion (inframe_deletion +2 more)	Angelman syndrome +1 more	GUncertain significance
Select item 1407598	NM_130839.5(UBE3A):c.2239T>C (p.Phe747Leu)	SNHG14, UBE3A (F310L +6 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GUncertain significance
Select item 1364280	NM_130839.5(UBE3A):c.2239T>G (p.Phe747Val)	SNHG14, UBE3A (F727V +6 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome +2 more	GUncertain significance

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