"Illumina Laboratory Services, Illumina"[submitter] AND "OBSL1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 334458	NM_015311.3(OBSL1):c.102_103insTA	OBSL1	Insertion (3 prime UTR variant)	3-M syndrome	GUncertain significance
Select item 334459	NM_015311.3(OBSL1):c.5676G>A (p.Leu1892=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 334460	NM_015311.3(OBSL1):c.5657G>A (p.Ser1886Asn)	OBSL1 (S1886N)	Single nucleotide variant (missense variant)	3M syndrome 2	GUncertain significance
Select item 897528	NM_015311.3(OBSL1):c.5593C>T (p.Leu1865=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 897529	NM_015311.3(OBSL1):c.5487G>A (p.Glu1829=)	OBSL1	Single nucleotide variant (synonymous variant)	3M syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 334461	NM_015311.3(OBSL1):c.5400A>T (p.Leu1800=)	OBSL1	Single nucleotide variant (synonymous variant)	3M syndrome 2	GUncertain significance
Select item 194972	NM_015311.3(OBSL1):c.5309-4C>G	OBSL1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 897530	NM_015311.3(OBSL1):c.5308+12T>G	LOC129935660, OBSL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 288014	NM_015311.3(OBSL1):c.5300G>A (p.Arg1767Gln)	OBSL1 (R1767Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 714168	NM_015311.3(OBSL1):c.5280C>T (p.Pro1760=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 334462	NM_015311.3(OBSL1):c.5270C>T (p.Pro1757Leu)	OBSL1 (P1757L)	Single nucleotide variant (missense variant)	3M syndrome 2	GUncertain significance
Select item 898682	NM_015311.3(OBSL1):c.5245G>A (p.Gly1749Arg)	OBSL1 (G1749R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 898683	NM_015311.3(OBSL1):c.5243C>T (p.Thr1748Met)	OBSL1 (T1748M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 755363	NM_015311.3(OBSL1):c.5229G>T (p.Ser1743=)	OBSL1	Single nucleotide variant (synonymous variant)	3M syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 734569	NM_015311.3(OBSL1):c.5210C>A (p.Thr1737Lys)	OBSL1 (T1737K)	Single nucleotide variant (missense variant)	3M syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 283126	NM_015311.3(OBSL1):c.5202C>A (p.Asp1734Glu)	OBSL1 (D1734E)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 334463	NM_015311.3(OBSL1):c.5101G>A (p.Ala1701Thr)	OBSL1 (A1701T)	Single nucleotide variant (missense variant)	3M syndrome 2	GUncertain significance
Select item 895701	NM_015311.3(OBSL1):c.4950C>T (p.Cys1650=)	OBSL1	Single nucleotide variant (synonymous variant)	3M syndrome 2	GUncertain significance
Select item 334464	NM_015311.3(OBSL1):c.4941G>T (p.Thr1647=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 334465	NM_015311.3(OBSL1):c.4877-15C>G	OBSL1	Single nucleotide variant (intron variant)	3M syndrome 2	GUncertain significance
Select item 895702	NM_015311.3(OBSL1):c.4850G>A (p.Arg1617His)	OBSL1 (R1617H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 334466	NM_015311.3(OBSL1):c.4836A>G (p.Thr1612=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 334467	NM_015311.3(OBSL1):c.4829C>A (p.Ser1610Tyr)	OBSL1 (S1610Y)	Single nucleotide variant (missense variant)	3M syndrome 2	GUncertain significance
Select item 334468	NM_015311.3(OBSL1):c.4778G>A (p.Arg1593His)	OBSL1 (R1593H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 334469	NM_015311.3(OBSL1):c.4733A>G (p.Gln1578Arg)	OBSL1 (Q1578R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 496928	NM_015311.3(OBSL1):c.4732C>T (p.Gln1578Ter)	OBSL1 (Q1578*)	Single nucleotide variant (nonsense)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 895985	NM_015311.3(OBSL1):c.4610-6G>A	OBSL1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 895986	NM_015311.3(OBSL1):c.4609+12G>A	OBSL1 (V1541I)	Single nucleotide variant (missense variant +1 more)	3M syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 287531	NM_015311.3(OBSL1):c.4588C>T (p.Leu1530=)	OBSL1	Single nucleotide variant (synonymous variant)	OBSL1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 334470	NM_015311.3(OBSL1):c.4566C>T (p.Cys1522=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 895987	NM_015311.3(OBSL1):c.4484G>A (p.Arg1495His)	OBSL1 (R1495H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 334471	NM_015311.3(OBSL1):c.4477G>A (p.Asp1493Asn)	OBSL1 (D1493N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 334472	NM_015311.3(OBSL1):c.4454G>A (p.Arg1485Gln)	OBSL1 (R1485Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 632348	NM_015311.3(OBSL1):c.4448G>A (p.Trp1483Ter)	OBSL1 (W1483*)	Single nucleotide variant (nonsense)	3M syndrome 2	GUncertain significance
Select item 334473	NM_015311.3(OBSL1):c.4441G>A (p.Val1481Met)	OBSL1 (V1481M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 334474	NM_015311.3(OBSL1):c.4440C>T (p.Ala1480=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 897586	NM_015311.3(OBSL1):c.4429G>A (p.Ala1477Thr)	OBSL1 (A1477T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 897587	NM_015311.3(OBSL1):c.4419C>T (p.Gly1473=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 334475	NM_015311.3(OBSL1):c.4395T>C (p.Asp1465=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 334476	NM_015311.3(OBSL1):c.4363T>C (p.Leu1455=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 593874	NM_015311.3(OBSL1):c.4361G>A (p.Arg1454Gln)	OBSL1 (R1454Q)	Single nucleotide variant (missense variant)	3M syndrome 2 +2 more	GBenign/Likely benign
Select item 334477	NM_015311.3(OBSL1):c.4334G>A (p.Arg1445Gln)	OBSL1 (R1445Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 334478	NM_015311.3(OBSL1):c.4285G>A (p.Val1429Met)	OBSL1 (V1429M)	Single nucleotide variant (missense variant)	3M syndrome 2 +2 more	GUncertain significance
Select item 898743	NM_015311.3(OBSL1):c.4202C>T (p.Pro1401Leu)	OBSL1 (P1401L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 898744	NM_015311.3(OBSL1):c.4194C>A (p.Val1398=)	OBSL1	Single nucleotide variant (synonymous variant)	3M syndrome 2	GUncertain significance
Select item 235404	NM_015311.3(OBSL1):c.4192G>A (p.Val1398Ile)	OBSL1 (V1398I)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 898745	NM_015311.3(OBSL1):c.4183A>G (p.Asn1395Asp)	OBSL1 (N1395D)	Single nucleotide variant (missense variant)	3M syndrome 2	GUncertain significance
Select item 334479	NM_015311.3(OBSL1):c.4181G>A (p.Arg1394His)	OBSL1 (R1394H)	Single nucleotide variant (missense variant)	3M syndrome 2 +1 more	GUncertain significance
Select item 898746	NM_015311.3(OBSL1):c.4152C>T (p.Ser1384=)	OBSL1	Single nucleotide variant (synonymous variant)	3M syndrome 2	GUncertain significance
Select item 334480	NM_015311.3(OBSL1):c.4147G>A (p.Val1383Ile)	OBSL1 (V1383I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 895776	NM_015311.3(OBSL1):c.4133C>T (p.Thr1378Met)	OBSL1 (T1378M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 334481	NM_015311.3(OBSL1):c.4128T>C (p.Asp1376=)	OBSL1	Single nucleotide variant (synonymous variant)	3M syndrome 2	GUncertain significance
Select item 334482	NM_015311.3(OBSL1):c.4117G>A (p.Glu1373Lys)	OBSL1 (E1373K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 334483	NM_015311.3(OBSL1):c.4095G>C (p.Glu1365Asp)	OBSL1 (E1365D)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 418392	NM_015311.3(OBSL1):c.4069C>T (p.Pro1357Ser)	OBSL1 (P1357S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 334485	NM_015311.3(OBSL1):c.4067-11G>A	OBSL1	Single nucleotide variant (intron variant)	3M syndrome 2 +1 more	GBenign/Likely benign
Select item 334484	NM_015311.3(OBSL1):c.4067-11G>T	OBSL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 334486	NM_015311.3(OBSL1):c.4067-12C>T	OBSL1	Single nucleotide variant (intron variant)	3M syndrome 2 +1 more	GBenign
Select item 334487	NM_015311.3(OBSL1):c.4032C>G (p.Pro1344=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 334488	NM_015311.3(OBSL1):c.4024G>A (p.Asp1342Asn)	OBSL1 (D1342N)	Single nucleotide variant (missense variant)	3M syndrome 2 +2 more	GLikely benign
Select item 896058	NM_015311.3(OBSL1):c.4018C>T (p.Leu1340=)	OBSL1	Single nucleotide variant (synonymous variant)	3M syndrome 2	GUncertain significance
Select item 334489	NM_015311.3(OBSL1):c.4005C>A (p.Asp1335Glu)	OBSL1 (D1335E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 284425	NM_015311.3(OBSL1):c.4005C>T (p.Asp1335=)	OBSL1	Single nucleotide variant (synonymous variant)	3M syndrome 2 +3 more	GBenign/Likely benign
Select item 896059	NM_015311.3(OBSL1):c.3980G>A (p.Arg1327Gln)	OBSL1 (R1327Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 334490	NM_015311.3(OBSL1):c.3950T>A (p.Leu1317Gln)	OBSL1 (L1317Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 289411	NM_015311.3(OBSL1):c.3937G>A (p.Gly1313Arg)	OBSL1 (G1313R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 897647	NM_015311.3(OBSL1):c.3853G>A (p.Gly1285Arg)	OBSL1 (G1285R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 334491	NM_015311.3(OBSL1):c.3852C>T (p.Gly1284=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 809172	NM_015311.3(OBSL1):c.3850G>A (p.Gly1284Ser)	OBSL1 (G1284S)	Single nucleotide variant (missense variant)	OBSL1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 897648	NM_015311.3(OBSL1):c.3839G>A (p.Arg1280Gln)	OBSL1 (R1280Q)	Single nucleotide variant (missense variant)	3M syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 334492	NM_015311.3(OBSL1):c.3816C>T (p.Pro1272=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 334493	NM_015311.3(OBSL1):c.3752C>T (p.Pro1251Leu)	OBSL1 (P1251L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 334494	NM_015311.3(OBSL1):c.3684A>G (p.Arg1228=)	OBSL1	Single nucleotide variant (synonymous variant)	3M syndrome 2	GUncertain significance
Select item 898810	NM_015311.3(OBSL1):c.3682C>G (p.Arg1228Gly)	OBSL1 (R1228G)	Single nucleotide variant (missense variant)	3M syndrome 2	GUncertain significance
Select item 334495	NM_015311.3(OBSL1):c.3680G>A (p.Arg1227His)	OBSL1 (R1227H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 193901	NM_015311.3(OBSL1):c.3649G>A (p.Glu1217Lys)	OBSL1 (E1217K)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 730214	NM_015311.3(OBSL1):c.3604G>A (p.Ala1202Thr)	OBSL1 (A1202T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 898811	NM_015311.3(OBSL1):c.3591G>C (p.Leu1197=)	OBSL1	Single nucleotide variant (synonymous variant)	3M syndrome 2	GUncertain significance
Select item 898812	NM_015311.3(OBSL1):c.3575T>C (p.Val1192Ala)	OBSL1 (V1192A)	Single nucleotide variant (missense variant)	3M syndrome 2	GUncertain significance
Select item 334496	NM_015311.3(OBSL1):c.3561T>C (p.Pro1187=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 730857	NM_015311.3(OBSL1):c.3444C>T (p.Ala1148=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 895851	NM_015311.3(OBSL1):c.3415A>C (p.Thr1139Pro)	OBSL1 (T1139P)	Single nucleotide variant (missense variant)	3M syndrome 2	GUncertain significance
Select item 769590	NM_015311.3(OBSL1):c.3399G>A (p.Gly1133=)	OBSL1	Single nucleotide variant (synonymous variant)	3M syndrome 2 +1 more	GBenign
Select item 720296	NM_015311.3(OBSL1):c.3390T>C (p.Gly1130=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 895852	NM_015311.3(OBSL1):c.3355C>T (p.Leu1119=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 724327	NM_015311.3(OBSL1):c.3304C>T (p.Arg1102Cys)	OBSL1 (R1102C)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely benign
Select item 282995	NM_015311.3(OBSL1):c.3283G>A (p.Ala1095Thr)	OBSL1 (A1095T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 895853	NM_015311.3(OBSL1):c.3275A>G (p.His1092Arg)	OBSL1 (H1092R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 334497	NM_015311.3(OBSL1):c.3242T>C (p.Ile1081Thr)	OBSL1 (I1081T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 282993	NM_015311.3(OBSL1):c.3159C>T (p.Pro1053=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 896127	NM_015311.3(OBSL1):c.3127C>T (p.Arg1043Cys)	OBSL1 (R1043C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 896128	NM_015311.3(OBSL1):c.3078G>C (p.Gly1026=)	OBSL1	Single nucleotide variant (synonymous variant)	3M syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 199136	NM_015311.3(OBSL1):c.3003C>T (p.Ala1001=)	OBSL1	Single nucleotide variant (synonymous variant)	OBSL1-related condition +3 more	GBenign/Likely benign
Select item 730081	NM_015311.3(OBSL1):c.2981G>A (p.Arg994His)	OBSL1 (R994H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 896129	NM_015311.3(OBSL1):c.2977C>T (p.Pro993Ser)	OBSL1 (P993S)	Single nucleotide variant (missense variant)	3M syndrome 2	GUncertain significance
Select item 896130	NM_015311.3(OBSL1):c.2896G>A (p.Gly966Ser)	OBSL1 (G966S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 334498	NM_015311.3(OBSL1):c.2887G>A (p.Glu963Lys)	OBSL1 (E963K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 897724	NM_015311.3(OBSL1):c.2858G>A (p.Arg953His)	OBSL1 (R953H)	Single nucleotide variant (missense variant)	3M syndrome 2	GUncertain significance
Select item 632349	NM_015311.3(OBSL1):c.2826dup (p.Ala943fs)	OBSL1 (A943fs)	Duplication (frameshift variant)	3M syndrome 2 +1 more	GUncertain significance
Select item 334499	NM_015311.3(OBSL1):c.2817G>A (p.Val939=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity

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