ADARB2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 154187	GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3	MIR5699, MIR6072 +496 more	Copy number gain	See cases	GPathogenic
Select item 154088	GRCh38/hg38 10p15.3(chr10:54086-1600803)x1	ADARB2, ADARB2-AS1 +54 more	Copy number loss	See cases	GPathogenic
Select item 58710	GRCh38/hg38 10p15.3-15.1(chr10:69260-6209368)x1	ADARB2, ADARB2-AS1 +276 more	Copy number loss	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 150048	GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1	LOC130003277, LOC130003278 +520 more	Copy number loss	See cases	GPathogenic
Select item 146014	GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3	LOC132090805, MANCR +482 more	Copy number gain	See cases	GPathogenic
Select item 58711	GRCh38/hg38 10p15.3(chr10:87458-2482736)x1	ADARB2, ADARB2-AS1 +66 more	Copy number loss	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 146280	GRCh38/hg38 10p15.3-15.2(chr10:90421-3058742)x1	ADARB2, ADARB2-AS1 +71 more	Copy number loss	See cases	GLikely pathogenic
Select item 146220	GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3	LOC130003153, LOC130003154 +421 more	Copy number gain	See cases	GPathogenic
Select item 57431	GRCh38/hg38 10p15.3-14(chr10:90421-6769994)x3	ADARB2, ADARB2-AS1 +298 more	Copy number gain	See cases	GPathogenic
Select item 57407	GRCh38/hg38 10p15.3-14(chr10:90421-8442783)x3	ADARB2, ADARB2-AS1 +352 more	Copy number gain	See cases	GPathogenic
Select item 149271	GRCh38/hg38 10p15.3-15.2(chr10:538646-3636571)x1	ADARB2, ADARB2-AS1 +86 more	Copy number loss	See cases	GUncertain significance
Select item 57853	GRCh38/hg38 10p15.3(chr10:730608-1358880)x3	ADARB2, GTPBP4 +27 more	Copy number gain	See cases	GUncertain significance
Select item 154592	GRCh38/hg38 10p15.3(chr10:899498-1339873)x3	ADARB2, GTPBP4 +25 more	Copy number gain	See cases	GUncertain significance
Select item 148515	GRCh38/hg38 10p15.3(chr10:918720-1843751)x4	ADARB2, ADARB2-AS1 +37 more	Copy number gain	See cases	GLikely benign
Select item 144979	GRCh38/hg38 10p15.3(chr10:1168276-1674493)x3	ADARB2, ADARB2-AS1 +10 more	Copy number gain	See cases	GUncertain significance
Select item 3080425	NM_018702.4(ADARB2):c.2201A>T (p.Gln734Leu)	ADARB2 (Q734L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490527	NM_018702.4(ADARB2):c.2188C>T (p.Pro730Ser)	ADARB2 (P730S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336374	NM_018702.4(ADARB2):c.2104G>C (p.Gly702Arg)	ADARB2 (G702R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299169	NM_018702.4(ADARB2):c.2068G>A (p.Gly690Arg)	ADARB2 (G690R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324614	NM_018702.4(ADARB2):c.2054G>A (p.Arg685Gln)	ADARB2 (R685Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080406	NM_018702.4(ADARB2):c.2030G>A (p.Arg677Gln)	ADARB2 (R677Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080401	NM_018702.4(ADARB2):c.2029C>T (p.Arg677Trp)	ADARB2 (R677W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344353	NM_018702.4(ADARB2):c.2021G>A (p.Arg674Gln)	ADARB2 (R674Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225356	NM_018702.4(ADARB2):c.2002A>C (p.Lys668Gln)	ADARB2 (K668Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790273	NM_018702.4(ADARB2):c.1970G>A (p.Arg657Gln)	ADARB2 (R657Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3268798	NM_018702.4(ADARB2):c.1931G>A (p.Gly644Asp)	ADARB2 (G644D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080390	NM_018702.4(ADARB2):c.1901C>T (p.Ser634Leu)	ADARB2 (S634L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080389	NM_018702.4(ADARB2):c.1883C>T (p.Ala628Val)	ADARB2 (A628V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268806	NM_018702.4(ADARB2):c.1849C>T (p.Arg617Trp)	ADARB2 (R617W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080385	NM_018702.4(ADARB2):c.1832C>T (p.Ala611Val)	ADARB2 (A611V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592846	NM_018702.4(ADARB2):c.1831G>C (p.Ala611Pro)	ADARB2 (A611P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272715	NM_018702.4(ADARB2):c.1589T>C (p.Val530Ala)	ADARB2 (V530A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206627	NM_018702.4(ADARB2):c.1547G>A (p.Arg516His)	ADARB2 (R516H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268785	NM_018702.4(ADARB2):c.1546C>T (p.Arg516Cys)	ADARB2 (R516C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080367	NM_018702.4(ADARB2):c.1546C>G (p.Arg516Gly)	ADARB2 (R516G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080362	NM_018702.4(ADARB2):c.1534G>A (p.Val512Ile)	ADARB2 (V512I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477660	NM_018702.4(ADARB2):c.1508C>G (p.Thr503Arg)	ADARB2 (T503R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268765	NM_018702.4(ADARB2):c.1498G>A (p.Glu500Lys)	ADARB2 (E500K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080356	NM_018702.4(ADARB2):c.1483C>T (p.Leu495Phe)	ADARB2 (L495F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268760	NM_018702.4(ADARB2):c.1399C>T (p.Arg467Trp)	ADARB2 (R467W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789439	NM_018702.4(ADARB2):c.1389G>A (p.Ser463=)	ADARB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2410922	NM_018702.4(ADARB2):c.1370G>A (p.Arg457His)	ADARB2 (R457H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3080346	NM_018702.4(ADARB2):c.1369C>T (p.Arg457Cys)	ADARB2 (R457C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520650	NM_018702.4(ADARB2):c.1369C>A (p.Arg457Ser)	ADARB2 (R457S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3080341	NM_018702.4(ADARB2):c.1327C>A (p.His443Asn)	ADARB2 (H443N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302914	NM_018702.4(ADARB2):c.1313G>A (p.Arg438Gln)	ADARB2 (R438Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387190	NM_018702.4(ADARB2):c.1306G>A (p.Val436Met)	ADARB2 (V436M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272456	NM_018702.4(ADARB2):c.1298C>T (p.Ala433Val)	ADARB2 (A433V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080329	NM_018702.4(ADARB2):c.1255G>A (p.Glu419Lys)	ADARB2 (E419K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268794	NM_018702.4(ADARB2):c.1225C>G (p.Leu409Val)	ADARB2 (L409V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367514	NM_018702.4(ADARB2):c.1219G>A (p.Val407Met)	ADARB2 (V407M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 749228	NM_018702.4(ADARB2):c.1200T>C (p.Asp400=)	ADARB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2357317	NM_018702.4(ADARB2):c.1198G>A (p.Asp400Asn)	ADARB2 (D400N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080320	NM_018702.4(ADARB2):c.1180G>A (p.Val394Ile)	ADARB2 (V394I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590013	NM_018702.4(ADARB2):c.1157G>A (p.Arg386His)	ADARB2 (R386H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080310	NM_018702.4(ADARB2):c.1156C>T (p.Arg386Cys)	ADARB2 (R386C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619859	NM_018702.4(ADARB2):c.1156C>G (p.Arg386Gly)	ADARB2 (R386G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080303	NM_018702.4(ADARB2):c.1133C>T (p.Thr378Met)	ADARB2 (T378M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2466868	NM_018702.4(ADARB2):c.1123G>A (p.Glu375Lys)	ADARB2 (E375K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723798	NM_018702.4(ADARB2):c.1122C>T (p.Arg374=)	ADARB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2224734	NM_018702.4(ADARB2):c.1120C>T (p.Arg374Cys)	ADARB2 (R374C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377977	NM_018702.4(ADARB2):c.1084G>A (p.Ala362Thr)	ADARB2 (A362T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608642	NM_018702.4(ADARB2):c.1055C>G (p.Ala352Gly)	ADARB2 (A352G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528598	NM_018702.4(ADARB2):c.1046C>T (p.Pro349Leu)	ADARB2 (P349L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477227	NM_018702.4(ADARB2):c.1036G>A (p.Gly346Ser)	ADARB2 (G346S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720443	NM_018702.4(ADARB2):c.984G>A (p.Arg328=)	ADARB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773917	NM_018702.4(ADARB2):c.898G>A (p.Glu300Lys)	ADARB2 (E300K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2388635	NM_018702.4(ADARB2):c.800C>T (p.Thr267Ile)	ADARB2 (T267I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350791	NM_018702.4(ADARB2):c.776G>A (p.Arg259His)	ADARB2 (R259H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2273908	NM_018702.4(ADARB2):c.775C>T (p.Arg259Cys)	ADARB2 (R259C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287568	NM_018702.4(ADARB2):c.761G>C (p.Arg254Pro)	ADARB2 (R254P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220298	NM_018702.4(ADARB2):c.754G>A (p.Gly252Arg)	ADARB2 (G252R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2614343	NM_018702.4(ADARB2):c.725G>A (p.Gly242Glu)	ADARB2 (G242E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246704	NM_018702.4(ADARB2):c.654T>G (p.Asp218Glu)	ADARB2 (D218E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491812	NM_018702.4(ADARB2):c.584C>T (p.Ala195Val)	ADARB2 (A195V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268800	NM_018702.4(ADARB2):c.532A>G (p.Lys178Glu)	ADARB2 (K178E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080447	NM_018702.4(ADARB2):c.493C>T (p.Leu165Phe)	ADARB2 (L165F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776490	NM_018702.4(ADARB2):c.465C>T (p.Val155=)	ADARB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2469646	NM_018702.4(ADARB2):c.455A>C (p.His152Pro)	ADARB2 (H152P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558571	NM_018702.4(ADARB2):c.443C>T (p.Thr148Met)	ADARB2 (T148M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492412	NM_018702.4(ADARB2):c.428G>A (p.Arg143Gln)	ADARB2 (R143Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297583	NM_018702.4(ADARB2):c.427C>G (p.Arg143Gly)	ADARB2 (R143G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530664	NM_018702.4(ADARB2):c.413C>G (p.Pro138Arg)	ADARB2 (P138R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719185	NM_018702.4(ADARB2):c.375G>A (p.Ala125=)	ADARB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2291733	NM_018702.4(ADARB2):c.364T>C (p.Trp122Arg)	ADARB2 (W122R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331489	NM_018702.4(ADARB2):c.305T>G (p.Leu102Arg)	ADARB2 (L102R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322120	NM_018702.4(ADARB2):c.296A>C (p.Lys99Thr)	ADARB2 (K99T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080435	NM_018702.4(ADARB2):c.268C>T (p.Arg90Trp)	ADARB2 (R90W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395855	NM_018702.4(ADARB2):c.263G>C (p.Arg88Pro)	ADARB2 (R88P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275695	NM_018702.4(ADARB2):c.248C>T (p.Pro83Leu)	ADARB2 (P83L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3268775	NM_018702.4(ADARB2):c.221A>T (p.Asn74Ile)	ADARB2 (N74I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616939	NM_018702.4(ADARB2):c.178G>A (p.Asp60Asn)	ADARB2 (D60N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376997	NM_018702.4(ADARB2):c.116T>C (p.Leu39Ser)	ADARB2 (L39S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080300	NM_018702.4(ADARB2):c.112A>G (p.Ile38Val)	ADARB2 (I38V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 154099	GRCh38/hg38 10p15.3-14(chr10:1601172-9203729)x3	ADARB2, AKR1C1 +304 more	Copy number gain	See cases	GLikely pathogenic
Select item 151299	GRCh38/hg38 10p15.3(chr10:1706739-1744386)x3	ADARB2, LOC130003170	Copy number gain	See cases	GLikely benign
Select item 2489937	NM_018702.4(ADARB2):c.77G>A (p.Arg26Lys)	ADARB2 (R26K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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