ClinVar for MedGen (Select 208678) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3066302	NM_015338.6(ASXL1):c.1109C>G (p.Ser370Ter)	ASXL1 (S309* +1 more)	Single nucleotide variant (nonsense)	Bohring-Opitz syndrome	GPathogenic
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 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 2664081	NM_015338.6(ASXL1):c.2302dup (p.Gln768fs)	ASXL1 (Q707fs +1 more)	Duplication (frameshift variant)	Bohring-Opitz syndrome	GPathogenic
Select item 2500286	NM_015338.6(ASXL1):c.2558del (p.Pro853fs)	ASXL1 (P792fs +1 more)	Deletion (frameshift variant)	Bohring-Opitz syndrome	GLikely pathogenic
Select item 2500280	NM_015338.6(ASXL1):c.4254_4260delinsCTCAC (p.Lys1419fs)	ASXL1 (K1358fs +1 more)	Indel (frameshift variant)	Bohring-Opitz syndrome	GPathogenic
Select item 2499575	NM_015338.6(ASXL1):c.1368_1371del (p.Asp457fs)	ASXL1 (D396fs +1 more)	Deletion (frameshift variant)	Bohring-Opitz syndrome	GPathogenic
Select item 2439274	NM_015338.6(ASXL1):c.1073A>G (p.Tyr358Cys)	ASXL1 (Y297C +1 more)	Single nucleotide variant (missense variant)	Bohring-Opitz syndrome	GUncertain significance
Select item 2439273	NM_015338.6(ASXL1):c.3506C>T (p.Ser1169Phe)	ASXL1 (S1108F +1 more)	Single nucleotide variant (missense variant)	Bohring-Opitz syndrome	GUncertain significance
Select item 2439272	NM_015338.6(ASXL1):c.4150A>G (p.Asn1384Asp)	ASXL1 (N1323D +1 more)	Single nucleotide variant (missense variant)	Bohring-Opitz syndrome	GUncertain significance
Select item 2439271	NM_015338.6(ASXL1):c.4204A>G (p.Met1402Val)	ASXL1 (M1341V +1 more)	Single nucleotide variant (missense variant)	Bohring-Opitz syndrome	GUncertain significance
Select item 2439270	NM_015338.6(ASXL1):c.3847G>A (p.Gly1283Ser)	ASXL1 (G1222S +1 more)	Single nucleotide variant (missense variant)	Bohring-Opitz syndrome	GUncertain significance
Select item 2439269	NM_015338.6(ASXL1):c.2171T>C (p.Leu724Pro)	ASXL1 (L663P +1 more)	Single nucleotide variant (missense variant)	Bohring-Opitz syndrome	GUncertain significance
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 1960951	NM_015338.6(ASXL1):c.4046T>C (p.Val1349Ala)	ASXL1 (V1288A +1 more)	Single nucleotide variant (missense variant)	Bohring-Opitz syndrome +1 more	GUncertain significance
Select item 1805958	NM_015338.6(ASXL1):c.4136A>C (p.Lys1379Thr)	ASXL1 (K1318T +1 more)	Single nucleotide variant (missense variant)	Bohring-Opitz syndrome	GUncertain significance
Select item 1805136	NM_015338.6(ASXL1):c.2309C>T (p.Ser770Leu)	ASXL1 (S709L +1 more)	Single nucleotide variant (missense variant)	Bohring-Opitz syndrome	GUncertain significance
Select item 1803980	NM_015338.6(ASXL1):c.3942_3957del (p.Gln1315fs)	ASXL1 (Q1254fs +1 more)	Deletion (frameshift variant)	Bohring-Opitz syndrome	GPathogenic
Select item 1727002	NM_015338.6(ASXL1):c.1436_1437del (p.Pro479fs)	ASXL1 (P418fs +1 more)	Deletion (frameshift variant)	Bohring-Opitz syndrome	GPathogenic
Select item 1709430	NM_015338.6(ASXL1):c.3565G>A (p.Ala1189Thr)	ASXL1 (A1128T +1 more)	Single nucleotide variant (missense variant)	Bohring-Opitz syndrome	GUncertain significance
Select item 1708093	NM_015338.6(ASXL1):c.1698G>C (p.Glu566Asp)	ASXL1 (E505D +1 more)	Single nucleotide variant (missense variant)	Bohring-Opitz syndrome	GLikely benign
Select item 1705710	NM_015338.6(ASXL1):c.3677_3678del (p.Leu1226fs)	ASXL1 (L1165fs +1 more)	Deletion (frameshift variant)	Bohring-Opitz syndrome	GLikely pathogenic
Select item 1701760	NM_015338.6(ASXL1):c.2029C>T (p.Pro677Ser)	ASXL1 (P616S +1 more)	Single nucleotide variant (missense variant)	Bohring-Opitz syndrome	GUncertain significance
Select item 1701746	NM_015338.6(ASXL1):c.4624_4626TAA[1] (p.Ter1542_Ter(1542_?)(?))	ASXL1	Microsatellite (no sequence alteration)	Bohring-Opitz syndrome	GUncertain significance
Select item 1701085	NM_015338.6(ASXL1):c.1720A>G (p.Ile574Val)	ASXL1 (I513V +1 more)	Single nucleotide variant (missense variant)	Bohring-Opitz syndrome	GPathogenic
Select item 1699482	NM_015338.6(ASXL1):c.1693G>C (p.Glu565Gln)	ASXL1 (E504Q +1 more)	Single nucleotide variant (missense variant)	Bohring-Opitz syndrome	GUncertain significance
Select item 1699128	NM_015338.6(ASXL1):c.1610A>G (p.Glu537Gly)	ASXL1 (E476G +1 more)	Single nucleotide variant (missense variant)	Bohring-Opitz syndrome	GUncertain significance
Select item 1698479	NM_015338.6(ASXL1):c.2324del (p.Arg774_Leu775insTer)	ASXL1	Deletion (nonsense)	Bohring-Opitz syndrome	GLikely pathogenic
Select item 1679780	NM_015338.6(ASXL1):c.3915T>G (p.Phe1305Leu)	ASXL1 (F1244L +1 more)	Single nucleotide variant (missense variant)	Bohring-Opitz syndrome	GUncertain significance
Select item 1675100	NM_015338.6(ASXL1):c.3302T>A (p.Val1101Glu)	ASXL1 (V1040E +1 more)	Single nucleotide variant (missense variant)	Bohring-Opitz syndrome +1 more	GUncertain significance
Select item 1667729	NM_015338.6(ASXL1):c.3621C>G (p.Val1207=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1553310	NM_015338.6(ASXL1):c.1928G>C (p.Gly643Ala)	ASXL1 (G582A +1 more)	Single nucleotide variant (missense variant)	Bohring-Opitz syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1394013	NM_015338.6(ASXL1):c.4281_4282delinsGC (p.Ser1428Pro)	ASXL1 (S1367P +1 more)	Indel (missense variant)	not provided +1 more	GUncertain significance
Select item 1377636	NM_015338.6(ASXL1):c.3401C>T (p.Pro1134Leu)	ASXL1 (P1073L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1343670	NM_015338.6(ASXL1):c.1751dup (p.Val585fs)	ASXL1 (V524fs +1 more)	Duplication (frameshift variant)	Bohring-Opitz syndrome	GLikely pathogenic
Select item 1334673	NM_015338.6(ASXL1):c.1015C>T (p.Gln339Ter)	ASXL1 (Q278* +1 more)	Single nucleotide variant (nonsense)	Bohring-Opitz syndrome	GLikely pathogenic
Select item 1302809	NM_015338.6(ASXL1):c.4343A>G (p.Gln1448Arg)	ASXL1 (Q1387R +1 more)	Single nucleotide variant (missense variant)	ASXL1-related disorder +2 more	GBenign/Likely benign
Select item 1296641	NM_015338.6(ASXL1):c.*22A>G	ASXL1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 1290687	NM_015338.6(ASXL1):c.140+26A>G	ASXL1	Single nucleotide variant (intron variant)	Bohring-Opitz syndrome +1 more	GBenign
Select item 1283377	NM_015338.6(ASXL1):c.3235T>C (p.Ser1079Pro)	ASXL1 (S1018P +1 more)	Single nucleotide variant (missense variant)	Bohring-Opitz syndrome +2 more	GBenign/Likely benign
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 1268316	NM_015338.6(ASXL1):c.*90T>C	ASXL1	Single nucleotide variant (3 prime UTR variant)	Bohring-Opitz syndrome +1 more	GBenign
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 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 1192334	NM_015338.6(ASXL1):c.719-100C>T	ASXL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1188832	NM_015338.6(ASXL1):c.2759_2762dup (p.Val922fs)	ASXL1 (V861fs +1 more)	Duplication (frameshift variant)	Bohring-Opitz syndrome	GPathogenic
Select item 1180868	NM_015338.6(ASXL1):c.2222A>T (p.Asp741Val)	ASXL1 (D680V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1174493	NM_015338.6(ASXL1):c.1719+1G>A	ASXL1	Single nucleotide variant (splice donor variant)	Bohring-Opitz syndrome	GPathogenic
Select item 1168641	NM_015338.6(ASXL1):c.57+19G>A	ASXL1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1168558	NM_015338.6(ASXL1):c.3427A>C (p.Ser1143Arg)	ASXL1 (S1082R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1120115	NM_015338.6(ASXL1):c.1567A>T (p.Lys523Ter)	ASXL1 (K462* +1 more)	Single nucleotide variant (nonsense)	Bohring-Opitz syndrome	GLikely pathogenic
Select item 1031903	NM_015338.6(ASXL1):c.69del (p.Tyr24fs)	ASXL1 (Y14fs +1 more)	Deletion (frameshift variant)	Bohring-Opitz syndrome	GLikely pathogenic
Select item 1031902	NM_015338.6(ASXL1):c.3437C>A (p.Ser1146Ter)	ASXL1 (S1085* +1 more)	Single nucleotide variant (nonsense)	Bohring-Opitz syndrome	GPathogenic
Select item 1031901	NM_015338.6(ASXL1):c.1589C>T (p.Ala530Val)	ASXL1 (A469V +1 more)	Single nucleotide variant (missense variant)	Bohring-Opitz syndrome +1 more	GUncertain significance
Select item 1031900	NM_015338.6(ASXL1):c.1387A>G (p.Ser463Gly)	ASXL1 (S463G +1 more)	Single nucleotide variant (missense variant)	Bohring-Opitz syndrome +1 more	GUncertain significance
Select item 1030495	NM_015338.6(ASXL1):c.3946C>G (p.Arg1316Gly)	ASXL1 (R1255G +1 more)	Single nucleotide variant (missense variant)	Bohring-Opitz syndrome	GUncertain significance
Select item 1030494	NM_015338.6(ASXL1):c.1225A>G (p.Lys409Glu)	ASXL1 (K348E +1 more)	Single nucleotide variant (missense variant)	Bohring-Opitz syndrome	GUncertain significance
Select item 998008	NM_015338.6(ASXL1):c.643G>A (p.Ala215Thr)	ASXL1 (A215T)	Single nucleotide variant (intron variant +1 more)	Bohring-Opitz syndrome	GLikely pathogenic
Select item 998006	NM_015338.6(ASXL1):c.658C>T (p.Gln220Ter)	ASXL1 (Q220*)	Single nucleotide variant (intron variant +1 more)	Bohring-Opitz syndrome	GLikely pathogenic
Select item 982935	NM_015338.6(ASXL1):c.3425A>G (p.Gln1142Arg)	ASXL1 (Q1081R +1 more)	Single nucleotide variant (missense variant)	Bohring-Opitz syndrome	GUncertain significance
Select item 976125	NM_015338.6(ASXL1):c.4048C>T (p.Gln1350Ter)	ASXL1 (Q1289* +1 more)	Single nucleotide variant (nonsense)	Bohring-Opitz syndrome	GPathogenic
Select item 870588	NM_015338.6(ASXL1):c.1720-1G>A	ASXL1	Single nucleotide variant (splice acceptor variant)	Bohring-Opitz syndrome	GPathogenic
Select item 812900	NM_015338.6(ASXL1):c.1900_1922del (p.Glu635fs)	ASXL1 (E635fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 807543	NM_015338.6(ASXL1):c.2036dup (p.Gly680fs)	ASXL1 (G619fs +1 more)	Duplication (frameshift variant)	Bohring-Opitz syndrome	GPathogenic
Select item 803605	NM_015338.6(ASXL1):c.3460G>A (p.Gly1154Ser)	ASXL1 (G1154S +1 more)	Single nucleotide variant (missense variant)	Bohring-Opitz syndrome	GUncertain significance
Select item 803604	NM_015338.6(ASXL1):c.1426_1427dup (p.Glu477fs)	ASXL1 (E477fs +1 more)	Duplication (frameshift variant)	Bohring-Opitz syndrome	GPathogenic
Select item 745834	NM_015338.6(ASXL1):c.1465C>G (p.Arg489Gly)	ASXL1 (R428G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 742478	NM_015338.6(ASXL1):c.4470G>T (p.Leu1490Phe)	ASXL1 (L1490F +1 more)	Single nucleotide variant (missense variant)	ASXL1-related disorder +3 more	GBenign/Likely benign
Select item 742129	NM_015338.6(ASXL1):c.3933T>C (p.Ala1311=)	ASXL1	Single nucleotide variant (synonymous variant)	ASXL1-related disorder +2 more	GBenign/Likely benign
Select item 742011	NM_015338.6(ASXL1):c.1898A>G (p.His633Arg)	ASXL1 (H572R +1 more)	Single nucleotide variant (missense variant)	ASXL1-related disorder +2 more	GBenign/Likely benign
Select item 738136	NM_015338.6(ASXL1):c.1923C>T (p.Ile641=)	ASXL1	Single nucleotide variant (synonymous variant)	ASXL1-related disorder +2 more	GBenign/Likely benign
Select item 736817	NM_015338.6(ASXL1):c.3540T>C (p.Asp1180=)	ASXL1	Single nucleotide variant (synonymous variant)	Bohring-Opitz syndrome +1 more	GBenign/Likely benign
Select item 734232	NM_015338.6(ASXL1):c.3273C>T (p.Ala1091=)	ASXL1	Single nucleotide variant (synonymous variant)	Bohring-Opitz syndrome +1 more	GBenign
Select item 729870	NM_015338.6(ASXL1):c.1331C>T (p.Ser444Leu)	ASXL1 (S383L +1 more)	Single nucleotide variant (missense variant)	Bohring-Opitz syndrome +2 more	GBenign/Likely benign
Select item 727152	NM_015338.6(ASXL1):c.1633C>T (p.Arg545Cys)	ASXL1 (R484C +1 more)	Single nucleotide variant (missense variant)	ASXL1-related disorder +2 more	GBenign/Likely benign
Select item 724218	NM_015338.6(ASXL1):c.3384C>T (p.Asp1128=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 720800	NM_015338.6(ASXL1):c.3739C>T (p.Arg1247Cys)	ASXL1 (R1186C +1 more)	Single nucleotide variant (missense variant)	ASXL1-related disorder +2 more	GBenign/Likely benign
Select item 715200	NM_015338.6(ASXL1):c.2059T>C (p.Cys687Arg)	ASXL1 (C626R +1 more)	Single nucleotide variant (missense variant)	ASXL1-related disorder +3 more	GBenign/Likely benign
Select item 711006	NM_015338.6(ASXL1):c.2895AGG[1] (p.Gly967del)	ASXL1 (G906del +1 more)	Microsatellite (inframe_deletion)	ASXL1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 709515	NM_015338.6(ASXL1):c.540C>T (p.Asn180=)	ASXL1	Single nucleotide variant (synonymous variant)	ASXL1-related disorder +2 more	GBenign/Likely benign
Select item 694695	NM_015338.6(ASXL1):c.2416_2417dup (p.Val807fs)	ASXL1 (V807fs +1 more)	Duplication (frameshift variant)	Bohring-Opitz syndrome	GPathogenic
Select item 691635	NM_001031710.3(KLHL7):c.249del (p.Phe83fs)	KLHL7 (F35fs +1 more)	Deletion (frameshift variant +1 more)	Bohring-Opitz syndrome	GPathogenic
Select item 666295	NM_015338.6(ASXL1):c.3769del (p.Ala1257fs)	ASXL1 (A1196fs +1 more)	Deletion (frameshift variant)	Bohring-Opitz syndrome	GLikely pathogenic
Select item 632647	NM_015338.6(ASXL1):c.3637del (p.Leu1213fs)	ASXL1 (L1213fs +1 more)	Deletion (frameshift variant)	Bohring-Opitz syndrome	GLikely pathogenic
Select item 632646	NM_015338.6(ASXL1):c.4060G>T (p.Glu1354Ter)	ASXL1 (E1354* +1 more)	Single nucleotide variant (nonsense)	Bohring-Opitz syndrome	GPathogenic
Select item 620281	NM_015338.6(ASXL1):c.2077C>T (p.Arg693Ter)	ASXL1 (R693* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 598750	NM_015338.6(ASXL1):c.1283_1284del (p.Gln428fs)	ASXL1 (Q428fs +1 more)	Deletion (frameshift variant)	Bohring-Opitz syndrome	GPathogenic
Select item 587611	NM_015338.6(ASXL1):c.4282TCT[1] (p.Ser1429del)	ASXL1 (S1429del +1 more)	Microsatellite (inframe_deletion)	Bohring-Opitz syndrome +2 more	GUncertain significance
Select item 560957	NM_015338.6(ASXL1):c.3700C>T (p.Gln1234Ter)	ASXL1 (Q1234* +1 more)	Single nucleotide variant (nonsense)	Bohring-Opitz syndrome	GPathogenic
Select item 548554	NM_015338.6(ASXL1):c.4109AGA[1] (p.Lys1371del)	ASXL1 (K1371del +1 more)	Microsatellite (inframe_deletion)	not provided +2 more	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 488471	NM_015338.6(ASXL1):c.217A>T (p.Lys73Ter)	ASXL1 (K73* +1 more)	Single nucleotide variant (nonsense)	Bohring-Opitz syndrome	GPathogenic
Select item 488446	NM_015338.6(ASXL1):c.3754_3758del (p.Gln1251_Asp1252insTer)	ASXL1	Deletion (nonsense)	Bohring-Opitz syndrome	GPathogenic
Select item 431709	NM_015338.6(ASXL1):c.3202C>T (p.Arg1068Ter)	ASXL1 (R1068* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 338140	NM_015338.6(ASXL1):c.1556_1557del	ASXL1	Deletion (3 prime UTR variant)	Bohring-Opitz syndrome	GUncertain significance
Select item 338117	NM_015338.6(ASXL1):c.4098C>T (p.Ser1366=)	ASXL1	Single nucleotide variant (synonymous variant)	ASXL1-related disorder +2 more	GBenign/Likely benign

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