18318[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
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 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	ACSS2, ACTL10 +254 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 338072	NM_015338.6(ASXL1):c.-88GCC[5]	ASXL1	Microsatellite (5 prime UTR variant)	Bohring-Opitz syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3045967	NM_015338.6(ASXL1):c.-21CCG[3]	ASXL1	Microsatellite (5 prime UTR variant)	ASXL1-related disorder	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 3319348	NM_015338.6(ASXL1):c.18G>C (p.Lys6Asn)	ASXL1 (K6N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1970514	NM_015338.6(ASXL1):c.18G>A (p.Lys6=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2744904	NM_015338.6(ASXL1):c.36G>A (p.Thr12=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1716339	NM_015338.6(ASXL1):c.41C>T (p.Ala14Val)	ASXL1 (A14V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1991653	NM_015338.6(ASXL1):c.48C>T (p.Ala16=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 2821664	NM_015338.6(ASXL1):c.54C>T (p.Arg18=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1564198	NM_015338.6(ASXL1):c.57+9G>T	ASXL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1915294	NM_015338.6(ASXL1):c.57+11C>T	ASXL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1901363	NM_015338.6(ASXL1):c.57+23dup	ASXL1	Duplication (intron variant)	not provided	GBenign
Select item 1939360	NM_015338.6(ASXL1):c.57+27_57+52del	ASXL1, LOC130065644	Deletion (intron variant)	not provided	GLikely benign
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 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 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 2633954	NM_015338.6(ASXL1):c.57+478G>T	ASXL1 (M1I)	Single nucleotide variant (missense variant +2 more)	ASXL1-related disorder	GUncertain significance
Select item 1616808	NM_015338.6(ASXL1):c.58-17C>T	ASXL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1925456	NM_015338.6(ASXL1):c.58-12A>G	ASXL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2032690	NM_015338.6(ASXL1):c.58-8T>A	ASXL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1542701	NM_015338.6(ASXL1):c.60A>G (p.Val20=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2762477	NM_015338.6(ASXL1):c.71A>G (p.Tyr24Cys)	ASXL1 (Y14C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1606660	NM_015338.6(ASXL1):c.75G>A (p.Ser25=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793609	NM_015338.6(ASXL1):c.85A>G (p.Met29Val)	ASXL1 (M19V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2844265	NM_015338.6(ASXL1):c.93A>C (p.Pro31=)	ASXL1	Single nucleotide variant (synonymous 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 2095125	NM_015338.6(ASXL1):c.140+10G>C	ASXL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2794264	NM_015338.6(ASXL1):c.140+13C>A	ASXL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1233952	NM_015338.6(ASXL1):c.141-330A>G	ASXL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1501469	NM_015338.6(ASXL1):c.141-2A>G	ASXL1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2091485	NM_015338.6(ASXL1):c.143G>T (p.Ser48Ile)	ASXL1 (S38I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2882041	NM_015338.6(ASXL1):c.143+14T>C	ASXL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2088133	NM_015338.6(ASXL1):c.143+19del	ASXL1	Deletion (intron variant)	not provided	GLikely benign
Select item 1186781	NM_015338.6(ASXL1):c.144-261A>T	ASXL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869615	NM_015338.6(ASXL1):c.144-14T>C	ASXL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788894	NM_015338.6(ASXL1):c.144-13T>C	ASXL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1926359	NM_015338.6(ASXL1):c.160G>A (p.Ala54Thr)	ASXL1 (A44T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1655280	NM_015338.6(ASXL1):c.180A>G (p.Leu60=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801839	NM_015338.6(ASXL1):c.199G>A (p.Gly67Arg)	ASXL1 (G57R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2754446	NM_015338.6(ASXL1):c.202G>C (p.Glu68Gln)	ASXL1 (E68Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1451498	NM_015338.6(ASXL1):c.203del (p.Glu68fs)	ASXL1 (E58fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
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 2890774	NM_015338.6(ASXL1):c.207GTT[1] (p.Leu70del)	ASXL1 (L60del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1369303	NM_015338.6(ASXL1):c.207G>T (p.Gly69=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2843881	NM_015338.6(ASXL1):c.210G>A (p.Leu70=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1486596	NM_015338.6(ASXL1):c.215A>G (p.Tyr72Cys)	ASXL1 (Y62C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2745253	NM_015338.6(ASXL1):c.222G>A (p.Leu74=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 749558	NM_015338.6(ASXL1):c.225T>C (p.Pro75=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1522235	NM_015338.6(ASXL1):c.245C>T (p.Thr82Met)	ASXL1 (T72M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1190275	NM_015338.6(ASXL1):c.246G>A (p.Thr82=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1936503	NM_015338.6(ASXL1):c.251A>G (p.Lys84Arg)	ASXL1 (K84R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1606489	NM_015338.6(ASXL1):c.252+11del	ASXL1	Deletion (intron variant)	not provided	GBenign
Select item 338076	NM_015338.6(ASXL1):c.252+11T>C	ASXL1	Single nucleotide variant (intron variant)	Bohring-Opitz syndrome +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 155484	GRCh38/hg38 20q11.21(chr20:32395883-32470045)x3	ASXL1, NOL4L	Copy number gain	See cases	GUncertain significance
Select item 1233377	NM_015338.6(ASXL1):c.253-288T>C	ASXL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2820621	NM_015338.6(ASXL1):c.253-7G>A	ASXL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 2077628	NM_015338.6(ASXL1):c.265C>A (p.Gln89Lys)	ASXL1 (Q79K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2187408	NM_015338.6(ASXL1):c.275G>A (p.Arg92His)	ASXL1 (R82H +1 more)	Single nucleotide variant (missense variant)	ASXL1-related disorder +1 more	GLikely benign
Select item 1719179	NM_015338.6(ASXL1):c.280C>T (p.Pro94Ser)	ASXL1 (P84S +1 more)	Single nucleotide variant (missense 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 2033681	NM_015338.6(ASXL1):c.306A>G (p.Pro102=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 975504	NM_015338.6(ASXL1):c.314C>T (p.Thr105Met)	ASXL1 (T105M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2415283	NM_015338.6(ASXL1):c.315G>A (p.Thr105=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1916707	NM_015338.6(ASXL1):c.332G>A (p.Cys111Tyr)	ASXL1 (C101Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1715822	NM_015338.6(ASXL1):c.347C>A (p.Ala116Asp)	ASXL1 (A106D +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 743383	NM_015338.6(ASXL1):c.369C>T (p.Asn123=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1372461	NM_015338.6(ASXL1):c.373+7A>T	ASXL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1168961	NM_015338.6(ASXL1):c.373+16T>G	ASXL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3008850	NM_015338.6(ASXL1):c.373+18G>A	ASXL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1927587	NM_015338.6(ASXL1):c.374-17A>G	ASXL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1595276	NM_015338.6(ASXL1):c.374-7C>T	ASXL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2729658	NM_015338.6(ASXL1):c.374-6T>G	ASXL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1456009	NM_015338.6(ASXL1):c.375A>G (p.Val125=)	ASXL1	Single nucleotide variant (synonymous variant)	ASXL1-related disorder +1 more	GLikely benign
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 1701421	NM_015338.6(ASXL1):c.396G>A (p.Ser132=)	ASXL1	Single nucleotide variant (synonymous variant)	not provided	GLikely 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

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