ClinVar for MedGen (Select 58144) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064122	NM_130839.5(UBE3A):c.1928G>A (p.Gly643Glu)	SNHG14, UBE3A (G206E +5 more)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome	GUncertain significance
Select item 3019182	NM_130839.5(UBE3A):c.651A>G (p.Gly217=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	Angelman syndrome	GLikely benign
Select item 3018679	NM_130839.5(UBE3A):c.610T>C (p.Ser204Pro)	SNHG14, UBE3A (S207P +3 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GUncertain significance
Select item 3018330	NM_130839.5(UBE3A):c.2205T>C (p.His735=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	Angelman syndrome	GLikely benign
Select item 3015709	NM_130839.5(UBE3A):c.2204A>G (p.His735Arg)	SNHG14, UBE3A (H660R +6 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GUncertain significance
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 3011403	NM_130839.5(UBE3A):c.1891C>T (p.Pro631Ser)	SNHG14, UBE3A (P194S +5 more)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome	GUncertain significance
Select item 3011396	NM_130839.5(UBE3A):c.1398A>G (p.Val466=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	Angelman syndrome	GLikely benign
Select item 3010314	NM_130839.5(UBE3A):c.624C>T (p.Ser208=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	Angelman syndrome	GLikely benign
Select item 2991925	NM_130839.5(UBE3A):c.873A>C (p.Arg291Ser)	SNHG14, UBE3A (R232S +3 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GUncertain significance
Select item 2970888	NM_130839.5(UBE3A):c.1401A>G (p.Glu467=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	Angelman syndrome	GLikely benign
Select item 2964949	NM_130839.5(UBE3A):c.1959+8_1959+11del	SNHG14, UBE3A	Deletion (intron variant)	Angelman syndrome	GLikely benign
Select item 2961597	NM_130839.5(UBE3A):c.1461T>C (p.Asn487=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	Angelman syndrome	GLikely benign
Select item 2956150	NM_130839.5(UBE3A):c.387G>A (p.Lys129=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 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 2918138	NM_130839.5(UBE3A):c.461T>C (p.Phe154Ser)	SNHG14, UBE3A (F134S +3 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GUncertain significance
Select item 2912643	NM_130839.5(UBE3A):c.1139T>C (p.Val380Ala)	SNHG14, UBE3A (V383A +3 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GUncertain significance
Select item 2911598	NM_130839.5(UBE3A):c.959A>G (p.Lys320Arg)	SNHG14, UBE3A (K300R +3 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GUncertain significance
Select item 2911439	NM_130839.5(UBE3A):c.1107G>A (p.Ser369=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	Angelman syndrome	GLikely benign
Select item 2906138	NM_130839.5(UBE3A):c.2001G>A (p.Gly667=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	Angelman syndrome	GLikely benign
Select item 2891877	NM_130839.5(UBE3A):c.986A>T (p.Asn329Ile)	SNHG14, UBE3A (N332I +3 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GUncertain significance
Select item 2889681	NM_130839.5(UBE3A):c.984C>T (p.Tyr328=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	Angelman syndrome	GLikely benign
Select item 2889680	NM_130839.5(UBE3A):c.1026A>G (p.Gln342=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	Angelman syndrome	GLikely benign
Select item 2887413	NM_130839.5(UBE3A):c.2498+19G>C	SNHG14, UBE3A	Single nucleotide variant (intron variant)	Angelman syndrome	GLikely benign
Select item 2882783	NM_130839.5(UBE3A):c.1161A>G (p.Thr387=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 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)	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 2860893	NM_130839.5(UBE3A):c.898G>T (p.Glu300Ter)	SNHG14, UBE3A (E303* +3 more)	Single nucleotide variant (nonsense +2 more)	Angelman syndrome	GPathogenic
Select item 2860479	NM_130839.5(UBE3A):c.1388T>C (p.Phe463Ser)	SNHG14, UBE3A (F404S +3 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GUncertain significance
Select item 2858660	NM_130839.5(UBE3A):c.2013T>C (p.Asp671=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	Angelman syndrome	GUncertain significance
Select item 2855215	NM_130839.5(UBE3A):c.229G>A (p.Ala77Thr)	SNHG14, UBE3A (A80T +3 more)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome	GUncertain significance
Select item 2853973	NM_130839.5(UBE3A):c.2565_2584dup (p.Ala862delinsValLysArgAspCysTer)	SNHG14, UBE3A	Duplication (nonsense +1 more)	Angelman syndrome	GPathogenic
Select item 2853931	NM_130839.5(UBE3A):c.1428dup (p.Cys477fs)	SNHG14, UBE3A (C418fs +3 more)	Duplication (frameshift variant +2 more)	Angelman syndrome	GPathogenic
Select item 2851386	NM_130839.5(UBE3A):c.390A>G (p.Val130=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	Angelman syndrome	GLikely benign
Select item 2847105	NM_130839.5(UBE3A):c.629G>A (p.Arg210Lys)	SNHG14, UBE3A (R190K +3 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GUncertain significance
Select item 2845466	NM_130839.5(UBE3A):c.2499-14T>G	SNHG14, UBE3A	Single nucleotide variant (intron variant)	Angelman syndrome	GLikely benign
Select item 2844223	NM_130839.5(UBE3A):c.649G>A (p.Gly217Arg)	SNHG14, UBE3A (G158R +3 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GUncertain significance
Select item 2842976	NM_130839.5(UBE3A):c.311C>T (p.Ser104Phe)	SNHG14, UBE3A (S107F +3 more)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome	GUncertain significance
Select item 2839692	NM_130839.5(UBE3A):c.1753+11T>G	SNHG14, UBE3A	Single nucleotide variant (intron variant)	Angelman syndrome	GLikely benign
Select item 2839261	NM_130839.5(UBE3A):c.1920dup (p.Lys641fs)	SNHG14, UBE3A (K641fs +5 more)	Duplication (frameshift variant +1 more)	Angelman syndrome	GPathogenic
Select item 2838296	NM_130839.5(UBE3A):c.1959+8del	SNHG14, UBE3A	Deletion (intron variant)	Angelman syndrome	GLikely benign
Select item 2837209	NM_130839.5(UBE3A):c.1000C>G (p.Arg334Gly)	SNHG14, UBE3A (R275G +3 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GUncertain significance
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 2830651	NM_130839.5(UBE3A):c.1363C>G (p.Leu455Val)	SNHG14, UBE3A (L458V +3 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GUncertain significance
Select item 2829201	NM_130839.5(UBE3A):c.699T>C (p.Ile233=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	Angelman syndrome	GLikely benign
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 2816475	NM_130839.5(UBE3A):c.736A>G (p.Asn246Asp)	SNHG14, UBE3A (N187D +3 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GUncertain significance
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 2815225	NM_130839.5(UBE3A):c.993C>A (p.Asp331Glu)	SNHG14, UBE3A (D311E +3 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GUncertain significance
Select item 2812315	NM_130839.5(UBE3A):c.656A>G (p.Asn219Ser)	SNHG14, UBE3A (N222S +3 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GUncertain significance
Select item 2811423	NM_130839.5(UBE3A):c.1710A>G (p.Glu570=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	Angelman syndrome	GLikely benign
Select item 2811408	NM_130839.5(UBE3A):c.764A>G (p.Asn255Ser)	SNHG14, UBE3A (N235S +3 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GUncertain significance
Select item 2809490	NM_130839.5(UBE3A):c.1394A>G (p.Lys465Arg)	SNHG14, UBE3A (K465R +3 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GUncertain significance
Select item 2800424	NM_130839.5(UBE3A):c.1960-18A>G	SNHG14, UBE3A	Single nucleotide variant (intron variant)	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 2799300	NM_130839.5(UBE3A):c.946G>T (p.Ala316Ser)	SNHG14, UBE3A (A316S +3 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GUncertain significance
Select item 2794017	NM_130839.5(UBE3A):c.153T>C (p.Cys51=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	Angelman syndrome	GLikely benign
Select item 2790764	NM_130839.5(UBE3A):c.1236A>C (p.Glu412Asp)	SNHG14, UBE3A (E392D +3 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GUncertain significance
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 2772120	NM_130839.5(UBE3A):c.633A>G (p.Ile211Met)	SNHG14, UBE3A (I211M +3 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GUncertain significance
Select item 2764525	NM_130839.5(UBE3A):c.1154T>G (p.Val385Gly)	SNHG14, UBE3A (V385G +3 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GUncertain significance
Select item 2763760	NM_130839.5(UBE3A):c.963G>A (p.Leu321=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	Angelman syndrome	GLikely benign
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 2759565	NM_130839.5(UBE3A):c.704C>T (p.Ala235Val)	SNHG14, UBE3A (A176V +3 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GUncertain significance
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 2754053	NM_130839.5(UBE3A):c.159C>G (p.Ser53=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	Angelman syndrome	GLikely benign
Select item 2752866	NM_130839.5(UBE3A):c.1001G>A (p.Arg334Gln)	SNHG14, UBE3A (R275Q +3 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GUncertain significance
Select item 2749324	NM_130839.5(UBE3A):c.1301T>G (p.Leu434Arg)	SNHG14, UBE3A (L434R +3 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GUncertain significance
Select item 2747350	NM_130839.5(UBE3A):c.1122G>A (p.Met374Ile)	SNHG14, UBE3A (M354I +3 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GUncertain significance
Select item 2746988	NM_130839.5(UBE3A):c.625T>C (p.Ser209Pro)	SNHG14, UBE3A (S212P +3 more)	Single nucleotide variant (missense variant +2 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 2732906	NM_130839.5(UBE3A):c.2499-19del	SNHG14, UBE3A	Deletion (intron variant)	Angelman syndrome	GBenign
Select item 2727834	NM_130839.5(UBE3A):c.459T>C (p.Val153=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	Angelman syndrome	GLikely benign
Select item 2727166	NM_130839.5(UBE3A):c.2068A>T (p.Met690Leu)	SNHG14, UBE3A (M273L +5 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GUncertain significance
Select item 2725106	NM_130839.5(UBE3A):c.580G>T (p.Ala194Ser)	SNHG14, UBE3A (A174S +3 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GUncertain significance
Select item 2718825	NM_130839.5(UBE3A):c.362-10G>A	SNHG14, UBE3A	Single nucleotide variant (intron variant)	Angelman syndrome	GLikely benign
Select item 2718005	NM_130839.5(UBE3A):c.2168T>G (p.Val723Gly)	SNHG14, UBE3A (V306G +6 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GUncertain significance
Select item 2713464	NM_130839.5(UBE3A):c.2124+3A>G	SNHG14, UBE3A	Single nucleotide variant (intron variant)	Angelman syndrome	GUncertain significance
Select item 2712043	NM_130839.5(UBE3A):c.954A>G (p.Gln318=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	Angelman syndrome	GLikely benign
Select item 2711351	NM_130839.5(UBE3A):c.362-11dup	SNHG14, UBE3A	Duplication (intron variant)	Angelman syndrome	GLikely benign
Select item 2710207	NM_130839.5(UBE3A):c.613_614del (p.Glu205fs)	SNHG14, UBE3A (E208fs +3 more)	Deletion (frameshift variant +2 more)	Angelman syndrome	GPathogenic
Select item 2699093	NM_130839.5(UBE3A):c.1439T>C (p.Ile480Thr)	SNHG14, UBE3A (I421T +3 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GUncertain significance
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 2694626	NM_130839.5(UBE3A):c.684T>C (p.Asp228=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	Angelman syndrome	GLikely benign
Select item 2664157	NM_130839.5(UBE3A):c.1791_1801delinsAAGATTCTTTTGAAA (p.Trp597_Ser601delinsTer)	SNHG14, UBE3A	Indel (nonsense +1 more)	Angelman syndrome	GLikely pathogenic
Select item 2663786	NC_000015.10:g.(?_23319714)_(28314256_?)del	GABRA5, PWRN4 +143 more	Deletion	Angelman syndrome	GPathogenic
Select item 2584851	NM_130839.5(UBE3A):c.303dup (p.Asn102fs)	SNHG14, UBE3A (N43fs +3 more)	Duplication (frameshift variant +1 more)	Angelman syndrome	GLikely pathogenic
Select item 2583172	NM_130839.5(UBE3A):c.2308del (p.Thr770fs)	SNHG14, UBE3A (T333fs +8 more)	Deletion (frameshift variant +1 more)	Angelman syndrome	GLikely pathogenic
Select item 2582382	NM_130839.5(UBE3A):c.1614_1624del (p.Glu538fs)	SNHG14, UBE3A (E101fs +5 more)	Deletion (frameshift variant +1 more)	Angelman syndrome	GPathogenic
Select item 2579285	GRCh38/hg38 15q11.2-12(chr15:20966971-25963714)x1	ATP10A, ATP10A-DT +163 more	Copy number loss	Angelman syndrome	GPathogenic
Select item 2579181	GRCh38/hg38 15q11.2(chr15:25354042-25357067)x1	SNHG14, UBE3A	Copy number loss	Angelman syndrome	GPathogenic
Select item 2500357	NM_130839.5(UBE3A):c.1850G>A (p.Gly617Asp)	SNHG14, UBE3A (G180D +5 more)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome	GUncertain significance
Select item 2500108	NM_130839.5(UBE3A):c.2230_2231dup (p.Tyr745fs)	SNHG14, UBE3A (Y308fs +6 more)	Duplication (frameshift variant +2 more)	Angelman syndrome	GPathogenic
Select item 2499676	NM_130839.5(UBE3A):c.779T>A (p.Leu260Ter)	SNHG14, UBE3A (L201* +3 more)	Single nucleotide variant (nonsense +2 more)	Angelman syndrome	GPathogenic
Select item 2444079	NM_130839.5(UBE3A):c.1820del (p.Gly607fs)	UBE3A, SNHG14 (G170fs +5 more)	Deletion (frameshift variant +1 more)	Angelman syndrome	GLikely pathogenic
Select item 2438460	NM_130839.5(UBE3A):c.630G>T (p.Arg210Ser)	SNHG14, UBE3A (R151S +3 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GUncertain significance
Select item 2438459	NM_130839.5(UBE3A):c.2278C>T (p.Arg760Trp)	SNHG14, UBE3A (R323W +6 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GUncertain significance
Select item 2434423	NM_130839.5(UBE3A):c.1321dup (p.Ile441fs)	SNHG14, UBE3A (I382fs +3 more)	Duplication (frameshift variant +2 more)	Angelman syndrome	GLikely pathogenic
Select item 2431509	NM_130839.5(UBE3A):c.2344G>C (p.Val782Leu)	SNHG14, UBE3A (V345L +8 more)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome	GUncertain significance
Select item 2427203	NC_000015.9:g.(?_25584284)_(25585395_?)del	UBE3A	Deletion	Angelman syndrome	GPathogenic

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