"GeneDx"[submitter] AND "UBE3A"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1189552	NM_130839.5(UBE3A):c.*199A>G	SNHG14, UBE3A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1217730	NM_130839.5(UBE3A):c.22_35del	SNHG14, UBE3A	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1292518	NM_130839.5(UBE3A):c.*23C>A	SNHG14, UBE3A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1201398	NM_130839.5(UBE3A):c.3_17del (p.Ter873=)	SNHG14, UBE3A	Deletion (no sequence alteration +1 more)	not provided	GLikely benign
Select item 597186	NM_130839.5(UBE3A):c.*3CAAAA[1] (p.Ter873=)	SNHG14, UBE3A	Microsatellite (no sequence alteration +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 156147	NM_130839.5(UBE3A):c.*3CAAAA[2] (p.Ter873=)	SNHG14, UBE3A	Microsatellite (no sequence alteration +1 more)	not provided	GLikely benign
Select item 1250412	NM_130839.5(UBE3A):c.*12del	SNHG14, UBE3A	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 155985	NM_130839.5(UBE3A):c.2616_*6del (p.Ter873GlnextTer?)	SNHG14, UBE3A	Deletion (frameshift variant +1 more)	Angelman syndrome +1 more	GPathogenic
Select item 597013	NM_130839.5(UBE3A):c.*4A>G	SNHG14, UBE3A	Single nucleotide variant (3 prime UTR variant +1 more)	Angelman syndrome	GUncertain significance FDA Recognized database
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 378845	NM_130839.5(UBE3A):c.2592G>A (p.Thr864=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1219516	NM_130839.5(UBE3A):c.2589C>A (p.Ile863=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 279915	NM_130839.5(UBE3A):c.2571_2574del (p.Glu857fs)	SNHG14, UBE3A (E420fs +8 more)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 524018	NM_130839.5(UBE3A):c.2567_2570dup (p.Leu859fs)	SNHG14, UBE3A (L422fs +8 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 160220	NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)	SNHG14, UBE3A (K859fs +8 more)	Deletion (frameshift variant +1 more)	Angelman syndrome	GPathogenic FDA Recognized database
Select item 817212	NM_130839.5(UBE3A):c.2567_2568dup (p.Glu857fs)	SNHG14, UBE3A (E860fs +8 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 217365	NM_130839.5(UBE3A):c.2563_2568del (p.Leu855_Lys856del)	SNHG14, UBE3A	Deletion (inframe_deletion +1 more)	Angelman syndrome	GPathogenic FDA Recognized database
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 155983	NM_130839.5(UBE3A):c.2563_2566dup (p.Lys856delinsThrTer)	SNHG14, UBE3A	Duplication (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 156620	NM_130839.5(UBE3A):c.2563C>T (p.Leu855Phe)	SNHG14, UBE3A (L835F +8 more)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome	GLikely pathogenic FDA Recognized database
Select item 2248980	NM_130839.5(UBE3A):c.2555A>G (p.Lys852Arg)	SNHG14, UBE3A (K415R +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 421035	NM_130839.5(UBE3A):c.2519G>C (p.Cys840Ser)	SNHG14, UBE3A (C820S +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 546446	NM_130839.5(UBE3A):c.2503C>T (p.Pro835Ser)	SNHG14, UBE3A (P815S +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 512645	NM_130839.5(UBE3A):c.2499-5_2499-2del	SNHG14, UBE3A	Deletion (splice acceptor variant)	not specified	GLikely benign
Select item 672296	NM_130839.5(UBE3A):c.2499-152T>C	SNHG14, UBE3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677511	NM_130839.5(UBE3A):c.2499-219A>G	SNHG14, UBE3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 279968	NM_130839.5(UBE3A):c.2469dup (p.Ile824fs)	SNHG14, UBE3A (I387fs +8 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
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 265322	NM_130839.5(UBE3A):c.2433_2434del (p.Arg811fs)	SNHG14, UBE3A (R736fs +8 more)	Microsatellite (non-coding transcript variant +1 more)	not provided	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 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 significance FDA Recognized database
Select item 137887	NM_130839.5(UBE3A):c.2415T>C (p.Phe805=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	Angelman syndrome	GUncertain significance FDA Recognized database
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 449168	NM_130839.5(UBE3A):c.2400A>T (p.Arg800Ser)	SNHG14, UBE3A (R780S +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 817467	NM_130839.5(UBE3A):c.2391del (p.Glu797fs)	SNHG14, UBE3A (E380fs +8 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
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 1329670	NM_130839.5(UBE3A):c.2357A>C (p.Glu786Ala)	SNHG14, UBE3A (E349A +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 677531	NM_130839.5(UBE3A):c.2354+164C>T	SNHG14, UBE3A	Single nucleotide variant (intron variant)	not provided	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 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 significance FDA Recognized database
Select item 2580686	NM_130839.5(UBE3A):c.2340C>G (p.Asp780Glu)	SNHG14, UBE3A (D343E +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 511260	NM_130839.5(UBE3A):c.2281-12T>C	SNHG14, UBE3A	Single nucleotide variant (intron variant)	not specified	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 1267304	NM_130839.5(UBE3A):c.2281-40_2281-38del	SNHG14, UBE3A	Microsatellite (intron variant)	not provided	GBenign
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 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 512008	NM_130839.5(UBE3A):c.2226C>G (p.Pro742=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3371033	NM_130839.5(UBE3A):c.2179T>C (p.Phe727Leu)	SNHG14, UBE3A (F290L +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 500116	NM_130839.5(UBE3A):c.2135A>G (p.Asn712Ser)	SNHG14, UBE3A (N692S +6 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 421239	NM_130839.5(UBE3A):c.2125-1G>A	SNHG14, UBE3A	Single nucleotide variant (splice acceptor variant +1 more)	Angelman syndrome	GLikely pathogenic FDA Recognized database
Select item 1214132	NM_130839.5(UBE3A):c.2125-96_2125-94del	SNHG14, UBE3A	Deletion (intron variant)	not provided	GLikely benign
Select item 1183487	NM_130839.5(UBE3A):c.2125-259_2125-257del	UBE3A, SNHG14	Microsatellite (intron variant)	not provided	GBenign
Select item 96260	NM_130839.5(UBE3A):c.2124+9T>C	SNHG14, UBE3A	Single nucleotide variant (intron variant)	Angelman syndrome	GBenign FDA Recognized database
Select item 386394	NM_130839.5(UBE3A):c.2124+8A>G	SNHG14, UBE3A	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 156144	NM_130839.5(UBE3A):c.2096A>C (p.Lys699Thr)	SNHG14, UBE3A (K679T +5 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GBenign FDA Recognized database
Select item 1207323	NM_130839.5(UBE3A):c.2065A>G (p.Met689Val)	SNHG14, UBE3A (M252V +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2499946	NM_130839.5(UBE3A):c.2049dup (p.Leu684fs)	SNHG14, UBE3A (L247fs +5 more)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 2429614	NM_130839.5(UBE3A):c.2035A>G (p.Ile679Val)	UBE3A, SNHG14 (I242V +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 155964	NM_130839.5(UBE3A):c.2032C>T (p.Gln678Ter)	SNHG14, UBE3A (Q658* +5 more)	Single nucleotide variant (nonsense +2 more)	Angelman syndrome +1 more	GPathogenic
Select item 1304090	NM_130839.5(UBE3A):c.1972A>C (p.Ser658Arg)	SNHG14, UBE3A (S221R +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 437189	NM_130839.5(UBE3A):c.1965A>G (p.Leu655=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	Angelman syndrome	GLikely benign FDA Recognized database
Select item 668942	NM_130839.5(UBE3A):c.1960-277C>T	SNHG14, UBE3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 513903	NM_130839.5(UBE3A):c.1959+11T>A	SNHG14, UBE3A	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 265385	NM_130839.5(UBE3A):c.1953_1954del (p.His652fs)	SNHG14, UBE3A (H632fs +5 more)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 521447	NM_130839.5(UBE3A):c.1945G>A (p.Gly649Arg)	SNHG14, UBE3A (G629R +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1369495	NM_130839.5(UBE3A):c.1937G>A (p.Arg646His)	SNHG14, UBE3A (R587H +5 more)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome +2 more	GUncertain significance
Select item 1208151	NM_130839.5(UBE3A):c.1936C>T (p.Arg646Cys)	SNHG14, UBE3A (R209C +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1309532	NM_130839.5(UBE3A):c.1933T>G (p.Phe645Val)	SNHG14, UBE3A (F208V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1801166	NM_130839.5(UBE3A):c.1906A>G (p.Arg636Gly)	SNHG14, UBE3A (R199G +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 160213	NM_130839.5(UBE3A):c.1834_1837del (p.Ile612fs)	SNHG14, UBE3A (I195fs +5 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 390013	NM_130839.5(UBE3A):c.1824G>A (p.Gln608=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 3340691	NM_130839.5(UBE3A):c.1791G>A (p.Trp597Ter)	SNHG14, UBE3A (W160* +5 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 817151	NM_130839.5(UBE3A):c.1789dup (p.Trp597fs)	SNHG14, UBE3A (W160fs +5 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 96258	NM_130839.5(UBE3A):c.1773A>G (p.Glu591=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GBenign
Select item 137886	NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	Angelman syndrome	GBenign FDA Recognized database
Select item 489356	NM_130839.5(UBE3A):c.1754-2A>C	SNHG14, UBE3A	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1186788	NM_130839.5(UBE3A):c.1754-3T>C	SNHG14, UBE3A	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1223464	NM_130839.5(UBE3A):c.1754-161G>C	SNHG14, UBE3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672383	NM_130839.5(UBE3A):c.1754-271A>G	SNHG14, UBE3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 516846	NM_130839.5(UBE3A):c.1753+20del	SNHG14, UBE3A	Deletion (intron variant)	not specified	GLikely benign
Select item 281397	NM_130839.5(UBE3A):c.1728G>A (p.Val576=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	Angelman syndrome	GLikely benign FDA Recognized database
Select item 423640	NM_130839.5(UBE3A):c.1708_1710del (p.Glu570del)	SNHG14, UBE3A (E550del +5 more)	Deletion (inframe_deletion +1 more)	not provided	GPathogenic
Select item 1313660	NM_130839.5(UBE3A):c.1708G>C (p.Glu570Gln)	SNHG14, UBE3A (E133Q +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1305593	NM_130839.5(UBE3A):c.1704C>T (p.Ser568=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3366089	NM_130839.5(UBE3A):c.1696G>C (p.Gly566Arg)	SNHG14, UBE3A (G129R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3340255	NM_130839.5(UBE3A):c.1696G>T (p.Gly566Cys)	SNHG14, UBE3A (G129C +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2663389	NM_130839.5(UBE3A):c.1673G>A (p.Gly558Glu)	SNHG14, UBE3A (G121E +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 449148	NM_130839.5(UBE3A):c.1621G>A (p.Ala541Thr)	SNHG14, UBE3A (A521T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 390176	NM_130839.5(UBE3A):c.1620C>T (p.Ile540=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	Angelman syndrome	GUncertain significance FDA Recognized database
Select item 489336	NM_130839.5(UBE3A):c.1609-11T>C	SNHG14, UBE3A	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 420682	NM_130839.5(UBE3A):c.1609-20dup	SNHG14, UBE3A	Duplication (intron variant)	not specified +1 more	GLikely benign
Select item 1178156	NM_130839.5(UBE3A):c.1609-57dup	SNHG14, UBE3A	Duplication (intron variant)	not provided	GLikely benign
Select item 668840	NM_130839.5(UBE3A):c.1609-303_1609-302insCTAA	SNHG14, UBE3A	Insertion (intron variant)	not provided	GBenign
Select item 1216948	NM_130839.5(UBE3A):c.1608+304C>G	SNHG14, UBE3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 449699	NM_130839.5(UBE3A):c.1608+1G>A	SNHG14, UBE3A	Single nucleotide variant (splice donor variant +1 more)	not provided	GPathogenic

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