ClinVar for Gene (Select 171023) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369467	NM_015338.6(ASXL1):c.936_941delinsAAA (p.Phe312_Thr314delinsLeuAsn)	ASXL1	Indel (inframe_indel)	not provided	GUncertain significance
Select item 3368466	NM_015338.6(ASXL1):c.590_592del (p.Gly197del)	ASXL1 (G197del)	Deletion (inframe_indel +2 more)	not provided	GUncertain significance
Select item 3367360	NM_015338.6(ASXL1):c.3388A>G (p.Met1130Val)	ASXL1 (M1069V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367313	NM_015338.6(ASXL1):c.1127_1132del (p.Gly376_Gln377del)	ASXL1	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 3365670	NM_015338.6(ASXL1):c.1723C>G (p.Gln575Glu)	ASXL1 (Q514E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363984	NM_015338.6(ASXL1):c.1776G>T (p.Gln592His)	ASXL1 (Q531H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363934	NM_015338.6(ASXL1):c.3969G>A (p.Met1323Ile)	ASXL1 (M1262I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363852	NM_015338.6(ASXL1):c.3329A>G (p.Gln1110Arg)	ASXL1 (Q1049R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359486	NM_015338.6(ASXL1):c.3010G>T (p.Asp1004Tyr)	ASXL1 (D1004Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3357221	NM_015338.6(ASXL1):c.2870C>T (p.Thr957Ile)	ASXL1 (T896I +1 more)	Single nucleotide variant (missense variant)	ASXL1-related disorder	GUncertain significance
Select item 3356612	NM_015338.6(ASXL1):c.225T>G (p.Pro75=)	ASXL1	Single nucleotide variant (synonymous variant)	ASXL1-related disorder	GLikely benign
Select item 3346367	NM_015338.6(ASXL1):c.3705C>G (p.Phe1235Leu)	ASXL1 (F1174L +1 more)	Single nucleotide variant (missense variant)	ASXL1-related disorder	GUncertain significance
Select item 3342668	NM_015338.6(ASXL1):c.4475T>C (p.Met1492Thr)	ASXL1 (M1431T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341914	NM_015338.6(ASXL1):c.2997G>C (p.Thr999=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3341111	NM_015338.6(ASXL1):c.2250del (p.Val751fs)	ASXL1 (V690fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3339567	NM_015338.6(ASXL1):c.3522G>A (p.Lys1174=)	ASXL1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3338642	NM_015338.6(ASXL1):c.3125dup (p.Leu1043fs)	ASXL1 (L1043fs +1 more)	Duplication (frameshift variant)	Bohring-Opitz syndrome	GLikely pathogenic
Select item 3337822	NM_015338.6(ASXL1):c.4306A>T (p.Ile1436Phe)	ASXL1 (I1375F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337821	NM_015338.6(ASXL1):c.1720-3C>T	ASXL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3337820	NM_015338.6(ASXL1):c.783C>A (p.Asn261Lys)	ASXL1 (N200K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3335981	NM_015338.6(ASXL1):c.2982del (p.His995fs)	ASXL1 (H934fs +1 more)	Deletion (frameshift variant)	Bohring-Opitz syndrome	GPathogenic
Select item 3319378	NM_015338.6(ASXL1):c.3766A>G (p.Asn1256Asp)	ASXL1 (N1256D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319369	NM_015338.6(ASXL1):c.3670A>G (p.Arg1224Gly)	ASXL1 (R1224G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3319358	NM_015338.6(ASXL1):c.4090G>C (p.Val1364Leu)	ASXL1 (V1303L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319348	NM_015338.6(ASXL1):c.18G>C (p.Lys6Asn)	ASXL1 (K6N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319337	NM_015338.6(ASXL1):c.2747G>A (p.Arg916Lys)	ASXL1 (R916K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319326	NM_015338.6(ASXL1):c.1350G>C (p.Lys450Asn)	ASXL1 (K450N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319316	NM_015338.6(ASXL1):c.2987G>A (p.Gly996Asp)	ASXL1 (G935D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319307	NM_015338.6(ASXL1):c.4198G>A (p.Glu1400Lys)	ASXL1 (E1339K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319299	NM_015338.6(ASXL1):c.3538G>C (p.Asp1180His)	ASXL1 (D1119H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319287	NM_015338.6(ASXL1):c.3538G>A (p.Asp1180Asn)	ASXL1 (D1119N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3319277	NM_015338.6(ASXL1):c.2733del (p.Lys912fs)	ASXL1 (K851fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3319269	NM_015338.6(ASXL1):c.329G>C (p.Ser110Thr)	ASXL1 (S100T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319260	NM_015338.6(ASXL1):c.3296C>G (p.Ser1099Cys)	ASXL1 (S1038C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257842	NM_015338.6(ASXL1):c.2926C>T (p.Gln976Ter)	ASXL1 (Q915* +1 more)	Single nucleotide variant (nonsense)	Neoplasm	OLikely oncogenic
Select item 3257840	NM_015338.6(ASXL1):c.2572C>T (p.Gln858Ter)	ASXL1 (Q858* +1 more)	Single nucleotide variant (nonsense)	Neoplasm	OLikely oncogenic
Select item 3257056	NM_015338.6(ASXL1):c.57+470A>C	ASXL1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3254959	NM_015338.6(ASXL1):c.2367_2368del (p.Cys789_Glu790delinsTer)	ASXL1	Microsatellite (nonsense +1 more)	Bohring-Opitz syndrome	GPathogenic
Select item 3254708	NM_015338.6(ASXL1):c.2929C>T (p.Gln977Ter)	ASXL1 (Q916* +1 more)	Single nucleotide variant (nonsense)	Bohring-Opitz syndrome	GPathogenic
Select item 3253100	NM_015338.6(ASXL1):c.229C>T (p.Arg77Ter)	ASXL1 (R67* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3252294	NM_015338.6(ASXL1):c.3665C>T (p.Ser1222Phe)	ASXL1 (S1161F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3248339	NC_000020.10:g.(?_30946579)_(30946655_?)dup	ASXL1	Duplication	not provided	GUncertain significance
Select item 3248338	NC_000020.10:g.(?_30226821)_(31025141_?)dup	ASXL1, BCL2L1 +14 more	Duplication	not provided	GUncertain significance
Select item 3239215	NM_015338.6(ASXL1):c.1618C>G (p.Pro540Ala)	ASXL1 (P479A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3239158	NM_015338.6(ASXL1):c.3232G>A (p.Asp1078Asn)	ASXL1 (D1017N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 disorder	GLikely benign
Select item 3052403	NM_015338.6(ASXL1):c.2115G>A (p.Glu705=)	ASXL1	Single nucleotide variant (synonymous variant)	ASXL1-related disorder	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 disorder	GUncertain significance
Select item 3045967	NM_015338.6(ASXL1):c.-21CCG[3]	ASXL1	Microsatellite (5 prime UTR variant)	ASXL1-related disorder	GLikely benign
Select item 3032998	NM_015338.6(ASXL1):c.2979T>C (p.Ser993=)	ASXL1	Single nucleotide variant (synonymous variant)	ASXL1-related disorder	GLikely benign
Select item 3029717	NM_015338.6(ASXL1):c.1113G>A (p.Leu371=)	ASXL1	Single nucleotide variant (synonymous variant)	ASXL1-related disorder	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 disorder	GUncertain significance
Select item 3028977	NM_015338.6(ASXL1):c.2819delinsCCCC (p.Leu940delinsSerPro)	ASXL1	Indel (inframe_indel)	ASXL1-related disorder	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	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	GLikely benign

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