ClinVar for Gene (Select 105) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3268800	NM_018702.4(ADARB2):c.532A>G (p.Lys178Glu)	ADARB2 (K178E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3268794	NM_018702.4(ADARB2):c.1225C>G (p.Leu409Val)	ADARB2 (L409V)	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 3268775	NM_018702.4(ADARB2):c.221A>T (p.Asn74Ile)	ADARB2 (N74I)	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 3268760	NM_018702.4(ADARB2):c.1399C>T (p.Arg467Trp)	ADARB2 (R467W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148909	GRCh37/hg19 10p15.3-14(chr10:1274308-12045503)x3	ADARB2, AKR1C1 +35 more	Copy number gain	See cases	GUncertain significance
Select item 3148908	GRCh37/hg19 10p15.3(chr10:100048-1247374)x1	ADARB2, DIP2C +6 more	Copy number loss	See cases	GPathogenic
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 3080443	NM_018702.4(ADARB2):c.44G>A (p.Ser15Asn)	ADARB2 (S15N)	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 3080429	NM_018702.4(ADARB2):c.23G>T (p.Gly8Val)	ADARB2 (G8V)	Single nucleotide variant (missense variant)	not specified	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 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 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 3080385	NM_018702.4(ADARB2):c.1832C>T (p.Ala611Val)	ADARB2 (A611V)	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 3080356	NM_018702.4(ADARB2):c.1483C>T (p.Leu495Phe)	ADARB2 (L495F)	Single nucleotide variant (missense variant)	not specified	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 3080341	NM_018702.4(ADARB2):c.1327C>A (p.His443Asn)	ADARB2 (H443N)	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 3080320	NM_018702.4(ADARB2):c.1180G>A (p.Val394Ile)	ADARB2 (V394I)	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 3080303	NM_018702.4(ADARB2):c.1133C>T (p.Thr378Met)	ADARB2 (T378M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2684593	GRCh37/hg19 10p15.3(chr10:1171077-1526667)x3	ADARB2, WDR37	Copy number gain	not provided	GUncertain significance
Select item 2684592	GRCh37/hg19 10p15.3(chr10:1125769-1979930)x3	ADARB2, WDR37	Copy number gain	not provided	GUncertain significance
Select item 2684591	GRCh37/hg19 10p15.3(chr10:1006757-1443180)x3	ADARB2, GTPBP4 +3 more	Copy number gain	not provided	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 2616939	NM_018702.4(ADARB2):c.178G>A (p.Asp60Asn)	ADARB2 (D60N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2608642	NM_018702.4(ADARB2):c.1055C>G (p.Ala352Gly)	ADARB2 (A352G)	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 2590013	NM_018702.4(ADARB2):c.1157G>A (p.Arg386His)	ADARB2 (R386H)	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 2530664	NM_018702.4(ADARB2):c.413C>G (p.Pro138Arg)	ADARB2 (P138R)	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 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 2492412	NM_018702.4(ADARB2):c.428G>A (p.Arg143Gln)	ADARB2 (R143Q)	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 2490527	NM_018702.4(ADARB2):c.2188C>T (p.Pro730Ser)	ADARB2 (P730S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489937	NM_018702.4(ADARB2):c.77G>A (p.Arg26Lys)	ADARB2 (R26K)	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 2477227	NM_018702.4(ADARB2):c.1036G>A (p.Gly346Ser)	ADARB2 (G346S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2466868	NM_018702.4(ADARB2):c.1123G>A (p.Glu375Lys)	ADARB2 (E375K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2395855	NM_018702.4(ADARB2):c.263G>C (p.Arg88Pro)	ADARB2 (R88P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2387190	NM_018702.4(ADARB2):c.1306G>A (p.Val436Met)	ADARB2 (V436M)	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 2376997	NM_018702.4(ADARB2):c.116T>C (p.Leu39Ser)	ADARB2 (L39S)	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 2357317	NM_018702.4(ADARB2):c.1198G>A (p.Asp400Asn)	ADARB2 (D400N)	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 2344353	NM_018702.4(ADARB2):c.2021G>A (p.Arg674Gln)	ADARB2 (R674Q)	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 2331489	NM_018702.4(ADARB2):c.305T>G (p.Leu102Arg)	ADARB2 (L102R)	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 2322120	NM_018702.4(ADARB2):c.296A>C (p.Lys99Thr)	ADARB2 (K99T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312351	NM_018702.4(ADARB2):c.17G>A (p.Gly6Glu)	ADARB2 (G6E)	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 2299169	NM_018702.4(ADARB2):c.2068G>A (p.Gly690Arg)	ADARB2 (G690R)	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 2291733	NM_018702.4(ADARB2):c.364T>C (p.Trp122Arg)	ADARB2 (W122R)	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 2275695	NM_018702.4(ADARB2):c.248C>T (p.Pro83Leu)	ADARB2 (P83L)	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 2272715	NM_018702.4(ADARB2):c.1589T>C (p.Val530Ala)	ADARB2 (V530A)	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 2246704	NM_018702.4(ADARB2):c.654T>G (p.Asp218Glu)	ADARB2 (D218E)	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 2224734	NM_018702.4(ADARB2):c.1120C>T (p.Arg374Cys)	ADARB2 (R374C)	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 2206627	NM_018702.4(ADARB2):c.1547G>A (p.Arg516His)	ADARB2 (R516H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809451	GRCh37/hg19 10p15.3(chr10:307769-1845696)x4	ADARB2, DIP2C +5 more	Copy number gain	not provided	GUncertain significance
Select item 1809234	GRCh37/hg19 10p15.3(chr10:1161120-1674822)x3	ADARB2, WDR37	Copy number gain	not provided	GUncertain significance
Select item 1808290	GRCh37/hg19 10p15.3(chr10:885585-1297727)x3	ADARB2, GTPBP4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1807587	GRCh37/hg19 10p15.3-13(chr10:100027-12648149)x3	CDC123, CELF2 +47 more	Copy number gain	not provided	GUncertain significance
Select item 1527574	GRCh37/hg19 10p15.3(chr10:820472-1526667)	ADARB2, GTPBP4 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1339885	GRCh37/hg19 10p15.3-15.1(chr10:100027-5071398)x1	ADARB2, AKR1C1 +12 more	Copy number loss	10p15.3 microdeletion syndrome	Gnot provided
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 1330170	GRCh37/hg19 10p15.3-15.1(chr10:60501-5238964)x1	ADARB2, AKR1C1 +15 more	Copy number loss	Neurooculocardiogenitourinary syndrome	GPathogenic
Select item 1077184	Single allele	AKR1C1, AKR1C2 +30 more	Deletion	not provided	GPathogenic
Select item 980370	GRCh37/hg19 10p15.3(chr10:100026-1281266)x1	WDR37, ZMYND11 +6 more	Copy number loss	not provided	GPathogenic
Select item 815311	GRCh37/hg19 10p15.3(chr10:970276-1236463)x3	IDI2, WDR37 +3 more	Copy number gain	not provided	GUncertain significance
Select item 815309	GRCh37/hg19 10p15.3-15.1(chr10:100026-4433206)x3	IDI2, PFKP +9 more	Copy number gain	not provided	GPathogenic
Select item 790273	NM_018702.4(ADARB2):c.1970G>A (p.Arg657Gln)	ADARB2 (R657Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 789439	NM_018702.4(ADARB2):c.1389G>A (p.Ser463=)	ADARB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776490	NM_018702.4(ADARB2):c.465C>T (p.Val155=)	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 749228	NM_018702.4(ADARB2):c.1200T>C (p.Asp400=)	ADARB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723798	NM_018702.4(ADARB2):c.1122C>T (p.Arg374=)	ADARB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 720443	NM_018702.4(ADARB2):c.984G>A (p.Arg328=)	ADARB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 719185	NM_018702.4(ADARB2):c.375G>A (p.Ala125=)	ADARB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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