ClinVar for Gene (Select 171023) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3130592	NM_015338.6(ASXL1):c.1786C>T (p.Arg596Trp)	ASXL1 (R535W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3130591	NM_015338.6(ASXL1):c.1687A>G (p.Thr563Ala)	ASXL1 (T502A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3130590	NM_015338.6(ASXL1):c.1672G>A (p.Glu558Lys)	ASXL1 (E497K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130589	NM_015338.6(ASXL1):c.1450G>C (p.Glu484Gln)	ASXL1 (E423Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130587	NM_015338.6(ASXL1):c.1157T>G (p.Leu386Trp)	ASXL1 (L325W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3075707	NM_015338.6(ASXL1):c.2461dup (p.Asp821fs)	ASXL1 (D760fs +1 more)	Duplication (frameshift variant)	Bohring-Opitz syndrome	GPathogenic
Select item 3069100	NM_015338.6(ASXL1):c.2644C>T (p.Gln882Ter)	ASXL1 (Q821* +1 more)	Single nucleotide variant (nonsense)	Bohring-Opitz syndrome	GPathogenic
Select item 3067761	NM_015338.6(ASXL1):c.1426C>T (p.Leu476=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3066302	NM_015338.6(ASXL1):c.1109C>G (p.Ser370Ter)	ASXL1 (S309* +1 more)	Single nucleotide variant (nonsense)	Bohring-Opitz syndrome	GPathogenic
Select item 3062405	GRCh37/hg19 20q11.21(chr20:29917837-31886619)x3	BPIFB1, BPIFB2 +37 more	Copy number gain	not specified	GUncertain significance
Select item 3062126	NM_015338.6(ASXL1):c.2789G>A (p.Trp930Ter)	ASXL1 (W869* +1 more)	Single nucleotide variant (nonsense)	Bohring-Opitz syndrome	GPathogenic
Select item 3062120	NM_015338.6(ASXL1):c.2456del (p.Gly819fs)	ASXL1 (G758fs +1 more)	Deletion (frameshift variant)	Bohring-Opitz syndrome	GPathogenic
Select item 3055041	NM_015338.6(ASXL1):c.2053G>A (p.Gly685Arg)	ASXL1 (G624R +1 more)	Single nucleotide variant (missense variant)	ASXL1-related condition	GLikely benign
Select item 3052403	NM_015338.6(ASXL1):c.2115G>A (p.Glu705=)	ASXL1	Single nucleotide variant (synonymous variant)	ASXL1-related condition	GLikely benign
Select item 3052284	NM_015338.6(ASXL1):c.4603G>A (p.Val1535Ile)	ASXL1 (V1535I +1 more)	Single nucleotide variant (missense variant)	ASXL1-related condition	GUncertain significance
Select item 3045967	NM_015338.6(ASXL1):c.-21CCG[3]	ASXL1	Microsatellite (5 prime UTR variant)	ASXL1-related condition	GLikely benign
Select item 3032998	NM_015338.6(ASXL1):c.2979T>C (p.Ser993=)	ASXL1	Single nucleotide variant (synonymous variant)	ASXL1-related condition	GLikely benign
Select item 3029717	NM_015338.6(ASXL1):c.1113G>A (p.Leu371=)	ASXL1	Single nucleotide variant (synonymous variant)	ASXL1-related condition	GLikely benign
Select item 3029363	NM_015338.6(ASXL1):c.623G>A (p.Gly208Asp)	ASXL1 (G208D)	Single nucleotide variant (missense variant +1 more)	ASXL1-related condition	GUncertain significance
Select item 3028977	NM_015338.6(ASXL1):c.2819delinsCCCC (p.Leu940delinsSerPro)	ASXL1	Indel (inframe_indel)	ASXL1-related condition	GUncertain significance
Select item 3027334	NM_015338.6(ASXL1):c.4562C>T (p.Ala1521Val)	ASXL1 (A1460V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026624	NM_015338.6(ASXL1):c.2496C>T (p.Asp832=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026615	NM_015338.6(ASXL1):c.2340G>A (p.Gln780=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024995	NM_015338.6(ASXL1):c.4282T>C (p.Ser1428Pro)	ASXL1 (S1367P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3024329	NM_015338.6(ASXL1):c.3747_3748del (p.Met1249fs)	ASXL1 (M1188fs +1 more)	Deletion (frameshift variant)	Myelodysplastic syndrome +1 more	GLikely pathogenic
Select item 3021569	NM_015338.6(ASXL1):c.3573T>C (p.Ile1191=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3019807	NM_015338.6(ASXL1):c.3952A>T (p.Arg1318Trp)	ASXL1 (R1257W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3017910	NM_015338.6(ASXL1):c.4444G>A (p.Ala1482Thr)	ASXL1 (A1482T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014160	NM_015338.6(ASXL1):c.2320A>G (p.Arg774Gly)	ASXL1 (R713G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012326	NM_015338.6(ASXL1):c.884T>C (p.Val295Ala)	ASXL1 (V234A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012162	NM_015338.6(ASXL1):c.1320A>C (p.Lys440Asn)	ASXL1 (K379N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011800	NM_015338.6(ASXL1):c.3893C>T (p.Thr1298Ile)	ASXL1 (T1237I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010233	NM_015338.6(ASXL1):c.1787G>A (p.Arg596Gln)	ASXL1 (R596Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008850	NM_015338.6(ASXL1):c.373+18G>A	ASXL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008480	NM_015338.6(ASXL1):c.2251G>T (p.Val751Phe)	ASXL1 (V690F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005860	NM_015338.6(ASXL1):c.622G>A (p.Gly208Ser)	ASXL1 (G208S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3004652	NM_015338.6(ASXL1):c.1237C>T (p.Arg413Trp)	ASXL1 (R413W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004018	NM_015338.6(ASXL1):c.4147G>A (p.Glu1383Lys)	ASXL1 (E1322K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997071	NM_015338.6(ASXL1):c.3750A>C (p.Ser1250=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996977	NM_015338.6(ASXL1):c.1902_1924del (p.Glu635fs)	ASXL1 (E574fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2993080	NM_015338.6(ASXL1):c.1976G>T (p.Gly659Val)	ASXL1 (G659V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992991	NM_015338.6(ASXL1):c.2964C>G (p.Asp988Glu)	ASXL1 (D927E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992880	NM_015338.6(ASXL1):c.4558G>A (p.Gly1520Ser)	ASXL1 (G1459S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991813	NM_015338.6(ASXL1):c.3910C>A (p.Leu1304Ile)	ASXL1 (L1243I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989723	NM_015338.6(ASXL1):c.3940C>T (p.Leu1314Phe)	ASXL1 (L1314F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989128	NM_015338.6(ASXL1):c.3515C>T (p.Ala1172Val)	ASXL1 (A1111V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988860	NM_015338.6(ASXL1):c.400G>A (p.Ala134Thr)	ASXL1 (A124T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988719	NM_015338.6(ASXL1):c.2153G>A (p.Arg718Lys)	ASXL1 (R718K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988016	NM_015338.6(ASXL1):c.2577C>T (p.Asn859=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987828	NM_015338.6(ASXL1):c.4173T>A (p.Ser1391Arg)	ASXL1 (S1391R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984956	NM_015338.6(ASXL1):c.2060G>A (p.Cys687Tyr)	ASXL1 (C687Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982978	NM_015338.6(ASXL1):c.355G>A (p.Val119Met)	ASXL1 (V109M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982940	NM_015338.6(ASXL1):c.3548A>C (p.Glu1183Ala)	ASXL1 (E1183A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982410	NM_015338.6(ASXL1):c.3352C>T (p.Leu1118=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982107	NM_015338.6(ASXL1):c.2064G>A (p.Thr688=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2982045	NM_015338.6(ASXL1):c.3992C>G (p.Pro1331Arg)	ASXL1 (P1270R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980642	NM_015338.6(ASXL1):c.1940C>T (p.Pro647Leu)	ASXL1 (P586L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977863	NM_015338.6(ASXL1):c.762A>G (p.Thr254=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975413	NM_015338.6(ASXL1):c.2292A>G (p.Leu764=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974276	NM_015338.6(ASXL1):c.1976G>A (p.Gly659Asp)	ASXL1 (G598D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974040	NM_015338.6(ASXL1):c.572C>T (p.Ser191Leu)	ASXL1 (S191L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2974001	NM_015338.6(ASXL1):c.4557C>T (p.Cys1519=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973481	NM_015338.6(ASXL1):c.1939C>A (p.Pro647Thr)	ASXL1 (P647T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973441	NM_015338.6(ASXL1):c.2796A>G (p.Lys932=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973389	NM_015338.6(ASXL1):c.3268A>G (p.Arg1090Gly)	ASXL1 (R1029G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972875	NM_015338.6(ASXL1):c.2024C>G (p.Pro675Arg)	ASXL1 (P614R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972506	NM_015338.6(ASXL1):c.3082T>G (p.Ser1028Ala)	ASXL1 (S967A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969730	NM_015338.6(ASXL1):c.1926A>T (p.Gly642=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968196	NM_015338.6(ASXL1):c.581A>C (p.His194Pro)	ASXL1 (H194P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2967398	NM_015338.6(ASXL1):c.768G>A (p.Gly256=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966956	NM_015338.6(ASXL1):c.1590G>A (p.Ala530=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966888	NM_015338.6(ASXL1):c.3084G>A (p.Ser1028=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965473	NM_015338.6(ASXL1):c.1417G>A (p.Ala473Thr)	ASXL1 (A412T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963909	NM_015338.6(ASXL1):c.1826C>T (p.Thr609Ile)	ASXL1 (T609I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963784	NM_015338.6(ASXL1):c.3416C>G (p.Thr1139Arg)	ASXL1 (T1078R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962413	NM_015338.6(ASXL1):c.2708C>T (p.Ser903Leu)	ASXL1 (S842L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960753	NM_015338.6(ASXL1):c.451A>G (p.Ser151Gly)	ASXL1 (S151G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960548	NM_015338.6(ASXL1):c.979+4T>C	ASXL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2959830	NM_015338.6(ASXL1):c.921A>G (p.Ala307=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957345	NM_015338.6(ASXL1):c.565+14C>T	ASXL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956665	NM_015338.6(ASXL1):c.4240C>A (p.Pro1414Thr)	ASXL1 (P1414T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2916701	NM_015338.6(ASXL1):c.1908G>A (p.Ala636=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2913260	NM_015338.6(ASXL1):c.3869C>T (p.Ala1290Val)	ASXL1 (A1229V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2910462	NM_015338.6(ASXL1):c.1108T>A (p.Ser370Thr)	ASXL1 (S309T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2909006	NM_015338.6(ASXL1):c.811C>T (p.Arg271Trp)	ASXL1 (R271W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2908386	NM_015338.6(ASXL1):c.3458A>G (p.His1153Arg)	ASXL1 (H1092R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2905612	NM_015338.6(ASXL1):c.4018C>A (p.Pro1340Thr)	ASXL1 (P1340T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2904898	NM_015338.6(ASXL1):c.2958C>T (p.Asn986=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2904831	NM_015338.6(ASXL1):c.2588A>G (p.Asp863Gly)	ASXL1 (D802G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2903912	NM_015338.6(ASXL1):c.3480C>T (p.Gly1160=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902525	NM_015338.6(ASXL1):c.3755A>G (p.Asp1252Gly)	ASXL1 (D1191G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901814	NM_015338.6(ASXL1):c.4521G>A (p.Ala1507=)	ASXL1	Single nucleotide variant (synonymous variant)	ASXL1-related condition +1 more	GBenign/Likely benign
Select item 2900877	NM_015338.6(ASXL1):c.3688G>T (p.Asp1230Tyr)	ASXL1 (D1169Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2899800	NM_015338.6(ASXL1):c.4083T>C (p.His1361=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898077	NM_015338.6(ASXL1):c.1994G>A (p.Ser665Asn)	ASXL1 (S604N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896687	NM_015338.6(ASXL1):c.1232G>A (p.Arg411His)	ASXL1 (R350H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896286	NM_015338.6(ASXL1):c.3030G>T (p.Thr1010=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896027	NM_015338.6(ASXL1):c.1218G>A (p.Gly406=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892529	NM_015338.6(ASXL1):c.3360G>A (p.Lys1120=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891314	NM_015338.6(ASXL1):c.1231C>T (p.Arg411Cys)	ASXL1 (R411C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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