"Ambry Genetics"[submitter] AND "ASXL1"[gene] - ClinVar

Search results

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2271945	NM_015338.6(ASXL1):c.29A>G (p.Glu10Gly)	ASXL1 (E10G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1522235	NM_015338.6(ASXL1):c.245C>T (p.Thr82Met)	ASXL1 (T72M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2247430	NM_015338.6(ASXL1):c.259G>T (p.Ala87Ser)	ASXL1 (A87S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545441	NM_015338.6(ASXL1):c.322G>A (p.Val108Met)	ASXL1 (V98M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2541078	NM_015338.6(ASXL1):c.395C>T (p.Ser132Leu)	ASXL1 (S122L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2282114	NM_015338.6(ASXL1):c.514G>A (p.Val172Ile)	ASXL1 (V172I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233946	NM_015338.6(ASXL1):c.586G>A (p.Asp196Asn)	ASXL1 (D196N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 287611	NM_015338.6(ASXL1):c.686C>T (p.Pro229Leu)	ASXL1 (P229L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1972886	NM_015338.6(ASXL1):c.724A>G (p.Met242Val)	ASXL1 (M181V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1216664	NM_015338.6(ASXL1):c.812G>C (p.Arg271Pro)	ASXL1 (R210P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2402223	NM_015338.6(ASXL1):c.944A>T (p.His315Leu)	ASXL1 (H254L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2527441	NM_015338.6(ASXL1):c.1072T>C (p.Tyr358His)	ASXL1 (Y297H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 520587	NM_015338.6(ASXL1):c.1117C>T (p.Gln373Ter)	ASXL1 (Q373* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
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 2335264	NM_015338.6(ASXL1):c.1202C>T (p.Thr401Ile)	ASXL1 (T401I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539812	NM_015338.6(ASXL1):c.1245T>A (p.Asp415Glu)	ASXL1 (D354E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310466	NM_015338.6(ASXL1):c.1250G>A (p.Arg417Gln)	ASXL1 (R356Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2299956	NM_015338.6(ASXL1):c.1268A>G (p.Asn423Ser)	ASXL1 (N423S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 729870	NM_015338.6(ASXL1):c.1331C>T (p.Ser444Leu)	ASXL1 (S383L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1957511	NM_015338.6(ASXL1):c.1336G>A (p.Val446Ile)	ASXL1 (V446I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2302114	NM_015338.6(ASXL1):c.1388G>C (p.Ser463Thr)	ASXL1 (S463T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 521071	NM_015338.6(ASXL1):c.1446dup (p.Val483fs)	ASXL1 (V422fs +1 more)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
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 280245	NM_015338.6(ASXL1):c.1544_1545del (p.Val515fs)	ASXL1 (V454fs +1 more)	Microsatellite (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 2263948	NM_015338.6(ASXL1):c.1581T>G (p.Phe527Leu)	ASXL1 (F466L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1706417	NM_015338.6(ASXL1):c.1591G>A (p.Ala531Thr)	ASXL1 (A470T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2381081	NM_015338.6(ASXL1):c.1661G>A (p.Ser554Asn)	ASXL1 (S554N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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 2414102	NM_015338.6(ASXL1):c.1824G>C (p.Trp608Cys)	ASXL1 (W547C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2300877	NM_015338.6(ASXL1):c.1829G>A (p.Gly610Asp)	ASXL1 (G610D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1967195	NM_015338.6(ASXL1):c.1922T>G (p.Ile641Ser)	ASXL1 (I641S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2539198	NM_015338.6(ASXL1):c.1991G>A (p.Ser664Asn)	ASXL1 (S603N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1374363	NM_015338.6(ASXL1):c.2260A>T (p.Thr754Ser)	ASXL1 (T693S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 596043	NM_015338.6(ASXL1):c.2336C>T (p.Pro779Leu)	ASXL1 (P779L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2259514	NM_015338.6(ASXL1):c.2368G>A (p.Glu790Lys)	ASXL1 (E729K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2375442	NM_015338.6(ASXL1):c.2375G>C (p.Gly792Ala)	ASXL1 (G792A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1186872	NM_015338.6(ASXL1):c.2417C>T (p.Thr806Ile)	ASXL1 (T745I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1280953	NM_015338.6(ASXL1):c.2423C>A (p.Pro808His)	ASXL1 (P747H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1913253	NM_015338.6(ASXL1):c.2495A>G (p.Asp832Gly)	ASXL1 (D771G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1208605	NM_015338.6(ASXL1):c.2593G>A (p.Glu865Lys)	ASXL1 (E804K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 731499	NM_015338.6(ASXL1):c.2671G>A (p.Val891Ile)	ASXL1 (V891I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2539199	NM_015338.6(ASXL1):c.2722G>C (p.Val908Leu)	ASXL1 (V847L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319277	NM_015338.6(ASXL1):c.2733del (p.Lys912fs)	ASXL1 (K851fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
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 521462	NM_015338.6(ASXL1):c.2763_2770delinsCAA (p.Val922fs)	ASXL1 (V861fs +1 more)	Indel (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 521974	NM_015338.6(ASXL1):c.2791del (p.Glu931fs)	ASXL1 (E870fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2209166	NM_015338.6(ASXL1):c.2873C>T (p.Ser958Leu)	ASXL1 (S897L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2316808	NM_015338.6(ASXL1):c.2878T>G (p.Trp960Gly)	ASXL1 (W960G +1 more)	Single nucleotide variant (missense variant)	Bohring-Opitz syndrome +1 more	GUncertain significance
Select item 1488491	NM_015338.6(ASXL1):c.2938A>G (p.Ile980Val)	ASXL1 (I919V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2552596	NM_015338.6(ASXL1):c.2951A>T (p.Lys984Ile)	ASXL1 (K984I +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 2306144	NM_015338.6(ASXL1):c.3094G>A (p.Asp1032Asn)	ASXL1 (D1032N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521186	NM_015338.6(ASXL1):c.3111G>A (p.Trp1037Ter)	ASXL1 (W1037* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 734078	NM_015338.6(ASXL1):c.3148A>G (p.Met1050Val)	ASXL1 (M1050V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1283377	NM_015338.6(ASXL1):c.3235T>C (p.Ser1079Pro)	ASXL1 (S1018P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
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 1540797	NM_015338.6(ASXL1):c.3443G>A (p.Arg1148His)	ASXL1 (R1087H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2604769	NM_015338.6(ASXL1):c.3482T>C (p.Met1161Thr)	ASXL1 (M1100T +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 2609056	NM_015338.6(ASXL1):c.3595_3596dup (p.Pro1200fs)	ASXL1 (P1200fs +1 more)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
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 1599363	NM_015338.6(ASXL1):c.3675A>T (p.Lys1225Asn)	ASXL1 (K1164N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2048305	NM_015338.6(ASXL1):c.3677T>A (p.Leu1226Gln)	ASXL1 (L1226Q +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 2532202	NM_015338.6(ASXL1):c.3721G>A (p.Glu1241Lys)	ASXL1 (E1241K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 2559645	NM_015338.6(ASXL1):c.3796C>T (p.Leu1266Phe)	ASXL1 (L1266F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237722	NM_015338.6(ASXL1):c.3914T>G (p.Phe1305Cys)	ASXL1 (F1244C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1260346	NM_015338.6(ASXL1):c.3965C>G (p.Pro1322Arg)	ASXL1 (P1322R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2312238	NM_015338.6(ASXL1):c.4064A>G (p.Asp1355Gly)	ASXL1 (D1355G +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 521420	NM_015338.6(ASXL1):c.4127dup (p.Pro1377fs)	ASXL1 (P1377fs +1 more)	Duplication (frameshift variant)	Bohring-Opitz syndrome +3 more	GPathogenic/Likely pathogenic
Select item 2171168	NM_015338.6(ASXL1):c.4139C>G (p.Ala1380Gly)	ASXL1 (A1319G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
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 2405594	NM_015338.6(ASXL1):c.4217T>C (p.Met1406Thr)	ASXL1 (M1345T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 488969	NM_015338.6(ASXL1):c.4243C>T (p.Arg1415Ter)	ASXL1 (R1415* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2194443	NM_015338.6(ASXL1):c.4247A>G (p.Glu1416Gly)	ASXL1 (E1416G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1505279	NM_015338.6(ASXL1):c.4396G>A (p.Gly1466Ser)	ASXL1 (G1405S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2263265	NM_015338.6(ASXL1):c.4411G>A (p.Val1471Met)	ASXL1 (V1410M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 742478	NM_015338.6(ASXL1):c.4470G>T (p.Leu1490Phe)	ASXL1 (L1490F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 133590	NM_015338.6(ASXL1):c.4493C>T (p.Thr1498Met)	ASXL1 (T1498M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 86