"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "ASXL1"[gen - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 338072	NM_015338.6(ASXL1):c.-88GCC[5]	ASXL1	Microsatellite (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1701421	NM_015338.6(ASXL1):c.396G>A (p.Ser132=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2052030	NM_015338.6(ASXL1):c.472-4G>A	ASXL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 792141	NM_015338.6(ASXL1):c.474G>A (p.Ala158=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1298865	NM_015338.6(ASXL1):c.566-2A>C	ASXL1	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
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 2672878	NM_015338.6(ASXL1):c.1189C>T (p.Arg397Cys)	ASXL1 (R336C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely 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 3067761	NM_015338.6(ASXL1):c.1426C>T (p.Leu476=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2498883	NM_015338.6(ASXL1):c.1773C>A (p.Tyr591Ter)	ASXL1 (Y530* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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 2916701	NM_015338.6(ASXL1):c.1908G>A (p.Ala636=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1907475	NM_015338.6(ASXL1):c.1911C>T (p.Ala637=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1170370	NM_015338.6(ASXL1):c.1929G>A (p.Gly643=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1630087	NM_015338.6(ASXL1):c.2011G>T (p.Ala671Ser)	ASXL1 (A610S +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 715200	NM_015338.6(ASXL1):c.2059T>C (p.Cys687Arg)	ASXL1 (C626R +1 more)	Single nucleotide variant (missense variant)	ASXL1-related condition +3 more	GBenign/Likely benign
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
Select item 338092	NM_015338.6(ASXL1):c.2110G>A (p.Gly704Arg)	ASXL1 (G704R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2419813	NM_015338.6(ASXL1):c.2236G>A (p.Ala746Thr)	ASXL1 (A685T +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2652253	NM_015338.6(ASXL1):c.2307C>G (p.Thr769=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1675852	NM_015338.6(ASXL1):c.2338C>T (p.Gln780Ter)	ASXL1 (Q719* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3026615	NM_015338.6(ASXL1):c.2340G>A (p.Gln780=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652254	NM_015338.6(ASXL1):c.2431A>G (p.Asn811Asp)	ASXL1 (N750D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3026624	NM_015338.6(ASXL1):c.2496C>T (p.Asp832=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1564470	NM_015338.6(ASXL1):c.2592C>T (p.Asp864=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 762448	NM_015338.6(ASXL1):c.2670C>T (p.Leu890=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 762745	NM_015338.6(ASXL1):c.2820G>A (p.Leu940=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 133579	NM_015338.6(ASXL1):c.2957A>G (p.Asn986Ser)	ASXL1 (N986S +1 more)	Single nucleotide variant (missense variant)	ASXL1-related condition +3 more	GBenign/Likely benign
Select item 1675853	NM_015338.6(ASXL1):c.3050A>C (p.Asp1017Ala)	ASXL1 (D1017A +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 133582	NM_015338.6(ASXL1):c.3083C>T (p.Ser1028Leu)	ASXL1 (S1028L +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 734078	NM_015338.6(ASXL1):c.3148A>G (p.Met1050Val)	ASXL1 (M1050V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1695014	NM_015338.6(ASXL1):c.3205G>A (p.Val1069Ile)	ASXL1 (V1008I +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 425268	NM_015338.6(ASXL1):c.3241CTG[1] (p.Leu1082del)	ASXL1 (L1082del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 133595	NM_015338.6(ASXL1):c.3306G>T (p.Glu1102Asp)	ASXL1 (E1102D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2672879	NM_015338.6(ASXL1):c.3405A>G (p.Gln1135=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2070579	NM_015338.6(ASXL1):c.3416C>A (p.Thr1139Lys)	ASXL1 (T1139K +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1366280	NM_015338.6(ASXL1):c.3460G>C (p.Gly1154Arg)	ASXL1 (G1093R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 338110	NM_015338.6(ASXL1):c.3513G>A (p.Arg1171=)	ASXL1	Single nucleotide variant (synonymous variant)	Bohring-Opitz syndrome +1 more	GBenign/Likely benign
Select item 1298866	NM_015338.6(ASXL1):c.3579C>T (p.Ala1193=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652255	NM_015338.6(ASXL1):c.3626G>A (p.Ser1209Asn)	ASXL1 (S1148N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 191162	NM_015338.6(ASXL1):c.3635C>T (p.Ser1212Phe)	ASXL1 (S1212F +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 809244	NM_015338.6(ASXL1):c.3730A>G (p.Lys1244Glu)	ASXL1 (K1183E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 133588	NM_015338.6(ASXL1):c.3935C>T (p.Ala1312Val)	ASXL1 (A1312V +1 more)	Single nucleotide variant (missense variant)	ASXL1-related condition +1 more	GLikely benign
Select item 1506052	NM_015338.6(ASXL1):c.3947G>A (p.Arg1316His)	ASXL1 (R1255H +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 757556	NM_015338.6(ASXL1):c.3966G>A (p.Pro1322=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2188044	NM_015338.6(ASXL1):c.3977C>G (p.Pro1326Arg)	ASXL1 (P1265R +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 338117	NM_015338.6(ASXL1):c.4098C>T (p.Ser1366=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1335459	NM_015338.6(ASXL1):c.4099G>A (p.Val1367Ile)	ASXL1 (V1367I +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1537526	NM_015338.6(ASXL1):c.4115C>G (p.Thr1372Ser)	ASXL1 (T1311S +1 more)	Single nucleotide variant (missense 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 133598	NM_015338.6(ASXL1):c.4189G>A (p.Gly1397Ser)	ASXL1 (G1397S +1 more)	Single nucleotide variant (missense variant)	ASXL1-related condition +2 more	GBenign/Likely benign
Select item 587611	NM_015338.6(ASXL1):c.4282TCT[1] (p.Ser1429del)	ASXL1 (S1429del +1 more)	Microsatellite (inframe_deletion)	Myelodysplastic syndrome +2 more	GUncertain significance
Select item 799747	NM_015338.6(ASXL1):c.4281T>G (p.Pro1427=)	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 732556	NM_015338.6(ASXL1):c.4407A>G (p.Gly1469=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 809245	NM_015338.6(ASXL1):c.4443T>G (p.Gly1481=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 133590	NM_015338.6(ASXL1):c.4493C>T (p.Thr1498Met)	ASXL1 (T1498M +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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

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Items: 61