"GeneDx"[submitter] AND "ASXL1"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 209

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 146032	GRCh38/hg38 20q11.21(chr20:31254983-33473080)x3	LOC121627902, LOC121853002 +160 more	Copy number gain	See cases	GPathogenic
Select item 145102	GRCh38/hg38 20q11.21(chr20:31254983-32575288)x3	ABALON, ASXL1 +104 more	Copy number gain	See cases	GPathogenic
Select item 1227691	NC_000020.11:g.32358199G>A	ASXL1	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1258060	NC_000020.11:g.32358304del	ASXL1	Deletion (genic upstream transcript variant)	not provided	GBenign
Select item 338062	NM_015338.6(ASXL1):c.-282C>T	ASXL1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1266577	NM_015338.6(ASXL1):c.-4A>G	ASXL1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1210912	NM_015338.6(ASXL1):c.1A>C (p.Met1Leu)	ASXL1 (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1272899	NM_015338.6(ASXL1):c.16AAG[3] (p.Lys9del)	ASXL1 (K9del)	Microsatellite (inframe_deletion)	not provided	GBenign/Likely benign
Select item 1327369	NM_015338.6(ASXL1):c.53G>T (p.Arg18Leu)	ASXL1 (R18L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1168641	NM_015338.6(ASXL1):c.57+19G>A	ASXL1	Single nucleotide variant (intron variant)	Bohring-Opitz syndrome +2 more	GBenign/Likely benign
Select item 1228443	NM_015338.6(ASXL1):c.57+52C>T	ASXL1, LOC130065644	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182355	NM_015338.6(ASXL1):c.57+219dup	ASXL1	Duplication (intron variant)	not provided	GLikely benign
Select item 420413	NM_015338.6(ASXL1):c.114dup (p.Glu39fs)	ASXL1 (E39fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1290687	NM_015338.6(ASXL1):c.140+26A>G	ASXL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1233952	NM_015338.6(ASXL1):c.141-330A>G	ASXL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186781	NM_015338.6(ASXL1):c.144-261A>T	ASXL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318857	NM_015338.6(ASXL1):c.203A>G (p.Glu68Gly)	ASXL1 (E58G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2731601	NM_015338.6(ASXL1):c.230G>A (p.Arg77Gln)	ASXL1 (R67Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1190275	NM_015338.6(ASXL1):c.246G>A (p.Thr82=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 338076	NM_015338.6(ASXL1):c.252+11T>C	ASXL1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1224675	NM_015338.6(ASXL1):c.252+2778A>G	ASXL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233377	NM_015338.6(ASXL1):c.253-288T>C	ASXL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1320773	NM_015338.6(ASXL1):c.296G>T (p.Gly99Val)	ASXL1 (G89V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 338077	NM_015338.6(ASXL1):c.374-9C>T	ASXL1	Single nucleotide variant (intron variant)	Bohring-Opitz syndrome +2 more	GBenign/Likely benign
Select item 2578190	NM_015338.6(ASXL1):c.397A>T (p.Asn133Tyr)	ASXL1 (N123Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1684113	NM_015338.6(ASXL1):c.427C>T (p.Arg143Ter)	ASXL1 (R133* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 1235720	NM_015338.6(ASXL1):c.471+89A>G	ASXL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219142	NM_015338.6(ASXL1):c.472-22T>C	ASXL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1095149	NM_015338.6(ASXL1):c.472-5C>T	ASXL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2507272	NM_015338.6(ASXL1):c.477C>A (p.Asn159Lys)	ASXL1 (N149K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 709515	NM_015338.6(ASXL1):c.540C>T (p.Asn180=)	ASXL1	Single nucleotide variant (synonymous variant)	Bohring-Opitz syndrome +1 more	GBenign/Likely benign
Select item 3372609	NM_015338.6(ASXL1):c.542G>A (p.Gly181Glu)	ASXL1 (G171E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320385	NM_015338.6(ASXL1):c.557C>T (p.Ser186Phe)	ASXL1 (S176F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1215599	NM_015338.6(ASXL1):c.565+211T>C	ASXL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228561	NM_015338.6(ASXL1):c.566-198A>G	ASXL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 338079	NM_015338.6(ASXL1):c.582C>T (p.His194=)	ASXL1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
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 1192334	NM_015338.6(ASXL1):c.719-100C>T	ASXL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1706094	NM_015338.6(ASXL1):c.733A>C (p.Asn245His)	ASXL1 (N184H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1711885	NM_015338.6(ASXL1):c.844C>G (p.Gln282Glu)	ASXL1 (Q221E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369467	NM_015338.6(ASXL1):c.936_941delinsAAA (p.Phe312_Thr314delinsLeuAsn)	ASXL1	Indel (inframe_indel)	not provided	GUncertain significance
Select item 1188373	NM_015338.6(ASXL1):c.979+216T>C	ASXL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290340	NM_015338.6(ASXL1):c.979+243T>C	ASXL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1696926	NM_015338.6(ASXL1):c.1076A>G (p.Tyr359Cys)	ASXL1 (Y298C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1696867	NM_015338.6(ASXL1):c.1086-12T>C	ASXL1	Single nucleotide variant (intron 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 1318540	NM_015338.6(ASXL1):c.1200C>T (p.Ala400=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1534353	NM_015338.6(ASXL1):c.1205G>A (p.Arg402Gln)	ASXL1 (R341Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 30986	NM_015338.6(ASXL1):c.1210C>T (p.Arg404Ter)	ASXL1 (R404* +1 more)	Single nucleotide variant (nonsense)	not provided +14 more	GPathogenic
Select item 280841	NM_015338.6(ASXL1):c.1282C>T (p.Gln428Ter)	ASXL1 (Q428* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 1209156	NM_015338.6(ASXL1):c.1383G>A (p.Leu461=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 418797	NM_015338.6(ASXL1):c.1406dup (p.Ser470fs)	ASXL1 (S409fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1316168	NM_015338.6(ASXL1):c.1412C>G (p.Ser471Cys)	ASXL1 (S410C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 133577	NM_015338.6(ASXL1):c.1429G>C (p.Glu477Gln)	ASXL1 (E477Q +1 more)	Single nucleotide variant (missense variant)	Bohring-Opitz syndrome +1 more	GBenign
Select item 545944	NM_015338.6(ASXL1):c.1433del (p.Gly478fs)	ASXL1 (G417fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1318684	NM_015338.6(ASXL1):c.1445C>T (p.Pro482Leu)	ASXL1 (P421L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 745834	NM_015338.6(ASXL1):c.1465C>G (p.Arg489Gly)	ASXL1 (R428G +1 more)	Single nucleotide variant (missense variant)	Bohring-Opitz syndrome +1 more	GBenign/Likely benign
Select item 1276740	NM_015338.6(ASXL1):c.1474G>C (p.Ala492Pro)	ASXL1 (A431P +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1188349	NM_015338.6(ASXL1):c.1495C>T (p.Arg499Cys)	ASXL1 (R438C +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1272597	NM_015338.6(ASXL1):c.1520T>A (p.Ile507Asn)	ASXL1 (I446N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
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 1204208	NM_015338.6(ASXL1):c.1569dup (p.Arg524fs)	ASXL1 (R463fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
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 727152	NM_015338.6(ASXL1):c.1633C>T (p.Arg545Cys)	ASXL1 (R484C +1 more)	Single nucleotide variant (missense variant)	Bohring-Opitz syndrome +1 more	GBenign/Likely benign
Select item 3370707	NM_015338.6(ASXL1):c.1638G>T (p.Gln546His)	ASXL1 (Q485H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 736660	NM_015338.6(ASXL1):c.1654A>G (p.Ile552Val)	ASXL1 (I491V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1691790	NM_015338.6(ASXL1):c.1683G>A (p.Gln561=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 723637	NM_015338.6(ASXL1):c.1710G>A (p.Pro570=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1319019	NM_015338.6(ASXL1):c.1717C>T (p.Arg573Trp)	ASXL1 (R512W +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1203395	NM_015338.6(ASXL1):c.1719+235A>G	ASXL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1204623	NM_015338.6(ASXL1):c.1737C>T (p.Ile579=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1187237	NM_015338.6(ASXL1):c.1742C>T (p.Pro581Leu)	ASXL1 (P520L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1319017	NM_015338.6(ASXL1):c.1751T>C (p.Val584Ala)	ASXL1 (V523A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 620227	NM_015338.6(ASXL1):c.1762C>T (p.Gln588Ter)	ASXL1 (Q588* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 451016	NM_015338.6(ASXL1):c.1773C>G (p.Tyr591Ter)	ASXL1 (Y591* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 1434235	NM_015338.6(ASXL1):c.1802C>T (p.Thr601Met)	ASXL1 (T540M +1 more)	Single nucleotide variant (missense variant)	not provided	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 1699660	NM_015338.6(ASXL1):c.1856C>T (p.Ala619Val)	ASXL1 (A558V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 280228	NM_015338.6(ASXL1):c.1867C>T (p.Gln623Ter)	ASXL1 (Q623* +1 more)	Single nucleotide variant (nonsense)	Bohring-Opitz syndrome +1 more	GPathogenic
Select item 742011	NM_015338.6(ASXL1):c.1898A>G (p.His633Arg)	ASXL1 (H572R +1 more)	Single nucleotide variant (missense variant)	Bohring-Opitz syndrome +1 more	GBenign/Likely benign
Select item 738136	NM_015338.6(ASXL1):c.1923C>T (p.Ile641=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 426927	NM_015338.6(ASXL1):c.1934dup (p.Gly646fs)	ASXL1 (G585fs +1 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1505130	NM_015338.6(ASXL1):c.1933G>A (p.Gly645Ser)	ASXL1 (G584S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320698	NM_015338.6(ASXL1):c.1933G>T (p.Gly645Cys)	ASXL1 (G584C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 133592	NM_015338.6(ASXL1):c.1954G>A (p.Gly652Ser)	ASXL1 (G652S +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1175529	NM_015338.6(ASXL1):c.1957G>A (p.Gly653Arg)	ASXL1 (G592R +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 338091	NM_015338.6(ASXL1):c.1965C>T (p.Thr655=)	ASXL1	Single nucleotide variant (synonymous variant)	Bohring-Opitz syndrome +1 more	GBenign
Select item 1195003	NM_015338.6(ASXL1):c.1997dup (p.Gly666_Asp667insTer)	ASXL1	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3377929	NM_015338.6(ASXL1):c.1996G>T (p.Gly666Cys)	ASXL1 (G605C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662817	NM_015338.6(ASXL1):c.2027A>G (p.Glu676Gly)	ASXL1 (E615G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504888	NM_015338.6(ASXL1):c.2042C>G (p.Pro681Arg)	ASXL1 (P620R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 715200	NM_015338.6(ASXL1):c.2059T>C (p.Cys687Arg)	ASXL1 (C626R +1 more)	Single nucleotide variant (missense variant)	Bohring-Opitz syndrome +2 more	GBenign/Likely benign
Select item 620281	NM_015338.6(ASXL1):c.2077C>T (p.Arg693Ter)	ASXL1 (R693* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1333056	NM_015338.6(ASXL1):c.2110G>T (p.Gly704Trp)	ASXL1 (G643W +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity

<< First< Prev

Page of 3