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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 900515	NM_001041.3(SI):c.*473G>A	SI	Single nucleotide variant	Sucrase-isomaltase deficiency	GUncertain significance
Select item 343994	NM_001041.4(SI):c.*426G>A	SI	Single nucleotide variant (3 prime UTR variant)	Sucrase-isomaltase deficiency	GBenign
Select item 343995	NM_001041.4(SI):c.*314del	SI	Deletion (3 prime UTR variant)	Sucrase-isomaltase deficiency	GLikely benign
Select item 343996	NM_001041.4(SI):c.*229T>C	SI	Single nucleotide variant (3 prime UTR variant)	Sucrase-isomaltase deficiency	GUncertain significance
Select item 343997	NM_001041.4(SI):c.*217A>C	SI	Single nucleotide variant (3 prime UTR variant)	Sucrase-isomaltase deficiency	GUncertain significance
Select item 900516	NM_001041.4(SI):c.*198G>T	SI	Single nucleotide variant (3 prime UTR variant)	Sucrase-isomaltase deficiency	GBenign
Select item 900517	NM_001041.4(SI):c.*151A>G	SI	Single nucleotide variant (3 prime UTR variant)	Sucrase-isomaltase deficiency	GUncertain significance
Select item 900518	NM_001041.4(SI):c.*121C>T	SI	Single nucleotide variant (3 prime UTR variant)	Sucrase-isomaltase deficiency	GUncertain significance
Select item 343998	NM_001041.4(SI):c.*68T>C	SI	Single nucleotide variant (3 prime UTR variant)	Sucrase-isomaltase deficiency	GBenign
Select item 343999	NM_001041.4(SI):c.5405C>G (p.Thr1802Ser)	SI (T1802S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 902174	NM_001041.4(SI):c.5403C>T (p.Asp1801=)	SI	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 344000	NM_001041.4(SI):c.5367T>C (p.Tyr1789=)	SI	Single nucleotide variant (synonymous variant)	SI-related condition +2 more	GConflicting classifications of pathogenicity
Select item 902175	NM_001041.4(SI):c.5320G>A (p.Val1774Ile)	SI (V1774I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 902176	NM_001041.4(SI):c.5319T>C (p.His1773=)	SI	Single nucleotide variant (synonymous variant)	Sucrase-isomaltase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 902177	NM_001041.4(SI):c.5304G>A (p.Arg1768=)	SI	Single nucleotide variant (synonymous variant)	Sucrase-isomaltase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 902178	NM_001041.4(SI):c.5301G>A (p.Thr1767=)	SI	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 903056	NM_001041.4(SI):c.5300C>T (p.Thr1767Met)	SI (T1767M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 903058	NM_001041.4(SI):c.5279G>A (p.Gly1760Asp)	SI (G1760D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 903057	NM_001041.4(SI):c.5279G>T (p.Gly1760Val)	SI (G1760V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1417	NM_001041.4(SI):c.5234T>G (p.Phe1745Cys)	SI (F1745C)	Single nucleotide variant (missense variant)	SI-related condition +2 more	GConflicting classifications of pathogenicity
Select item 344001	NM_001041.4(SI):c.5197+8C>T	SI	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 265618	NM_001041.4(SI):c.5110C>T (p.Arg1704Ter)	SI (R1704*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 903059	NM_001041.4(SI):c.5109-3T>C	SI	Single nucleotide variant (intron variant)	Sucrase-isomaltase deficiency +1 more	GUncertain significance
Select item 344002	NM_001041.4(SI):c.5108+13T>C	SI	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 344003	NM_001041.4(SI):c.4951G>A (p.Val1651Ile)	SI (V1651I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 903060	NM_001041.4(SI):c.4950C>T (p.Tyr1650=)	SI	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 344004	NM_001041.4(SI):c.4873T>G (p.Phe1625Val)	SI (F1625V)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +1 more	GUncertain significance
Select item 899435	NM_001041.4(SI):c.4849G>C (p.Asp1617His)	SI (D1617H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 344005	NM_001041.4(SI):c.4842-4C>T	SI	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 899436	NM_001041.4(SI):c.4841+15T>A	SI	Single nucleotide variant (intron variant)	Sucrase-isomaltase deficiency	GUncertain significance
Select item 344006	NM_001041.4(SI):c.4841+9A>G	SI	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 344007	NM_001041.4(SI):c.4793A>T (p.His1598Leu)	SI (H1598L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 344008	NM_001041.4(SI):c.4779T>C (p.Phe1593=)	SI	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 899437	NM_001041.4(SI):c.4772C>A (p.Pro1591His)	SI (P1591H)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency	GUncertain significance
Select item 344009	NM_001041.4(SI):c.4692+12C>T	SI	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 344010	NM_001041.4(SI):c.4569G>A (p.Met1523Ile)	SI (M1523I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 900558	NM_001041.4(SI):c.4540+4A>G	SI	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 344011	NM_001041.4(SI):c.4458G>A (p.Thr1486=)	SI	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 802019	NM_001041.4(SI):c.4427G>C (p.Gly1476Ala)	SI (G1476A)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +1 more	GUncertain significance
Select item 900559	NM_001041.4(SI):c.4328T>C (p.Ile1443Thr)	SI (I1443T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 344012	NM_001041.4(SI):c.4268-14T>C	SI	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 902245	NM_001041.4(SI):c.4267+9T>C	SI	Single nucleotide variant (intron variant)	Sucrase-isomaltase deficiency	GUncertain significance
Select item 344013	NM_001041.4(SI):c.4239C>T (p.Asp1413=)	SI	Single nucleotide variant (synonymous variant)	Sucrase-isomaltase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 344014	NM_001041.4(SI):c.4209T>C (p.Asn1403=)	SI	Single nucleotide variant (synonymous variant)	Sucrase-isomaltase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 344015	NM_001041.4(SI):c.4203T>G (p.Phe1401Leu)	SI (F1401L)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +1 more	GUncertain significance
Select item 344016	NM_001041.4(SI):c.4191G>A (p.Glu1397=)	SI	Single nucleotide variant (synonymous variant)	Sucrase-isomaltase deficiency	GUncertain significance
Select item 344017	NM_001041.4(SI):c.4099A>G (p.Arg1367Gly)	SI (R1367G)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 344018	NM_001041.4(SI):c.4077T>C (p.His1359=)	SI	Single nucleotide variant (synonymous variant)	Sucrase-isomaltase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 344019	NM_001041.4(SI):c.4062+11C>T	SI	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 344020	NM_001041.4(SI):c.4044G>A (p.Thr1348=)	SI	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 344021	NM_001041.4(SI):c.4026A>G (p.Thr1342=)	SI	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 903121	NM_001041.4(SI):c.4014G>A (p.Leu1338=)	SI	Single nucleotide variant (synonymous variant)	Sucrase-isomaltase deficiency	GUncertain significance
Select item 344022	NM_001041.4(SI):c.3995C>A (p.Ala1332Glu)	SI (A1332E)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency	GUncertain significance
Select item 903122	NM_001041.4(SI):c.3914C>T (p.Thr1305Ile)	SI (T1305I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 344023	NM_001041.4(SI):c.3836C>T (p.Pro1279Leu)	SI (P1279L)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency	GUncertain significance
Select item 344024	NM_001041.4(SI):c.3790G>A (p.Glu1264Lys)	SI (E1264K)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency	GUncertain significance
Select item 344025	NM_001041.4(SI):c.3781G>A (p.Asp1261Asn)	SI (D1261N)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 344026	NM_001041.4(SI):c.3760-7A>G	SI	Single nucleotide variant (intron variant)	Sucrase-isomaltase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 903123	NM_001041.4(SI):c.3729T>C (p.Tyr1243=)	SI	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 903124	NM_001041.4(SI):c.3557G>T (p.Arg1186Leu)	SI (R1186L)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency	GUncertain significance
Select item 344027	NM_001041.4(SI):c.3540T>C (p.Thr1180=)	SI	Single nucleotide variant (synonymous variant)	Sucrase-isomaltase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 344028	NM_001041.4(SI):c.3424-12T>C	SI	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 344029	NM_001041.4(SI):c.3423+11A>G	SI	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 899494	NM_001041.4(SI):c.3418C>G (p.Pro1140Ala)	SI (P1140A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 344030	NM_001041.4(SI):c.3408A>C (p.Arg1136Ser)	SI (R1136S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 899495	NM_001041.4(SI):c.3331A>G (p.Ile1111Val)	SI (I1111V)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +1 more	GUncertain significance
Select item 899496	NM_001041.4(SI):c.3309G>A (p.Ser1103=)	SI	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 344031	NM_001041.4(SI):c.3242G>A (p.Ser1081Asn)	SI (S1081N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 900629	NM_001041.4(SI):c.3234G>A (p.Arg1078=)	SI	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1419	NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)	SI (G1073D)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 344032	NM_001041.4(SI):c.3197A>G (p.Glu1066Gly)	SI (E1066G)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +1 more	GUncertain significance
Select item 418676	NM_001041.4(SI):c.3186_3187del (p.Leu1062_Tyr1063insTer)	SI	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 344033	NM_001041.4(SI):c.3055C>T (p.Arg1019Cys)	SI (R1019C)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency	GUncertain significance
Select item 900630	NM_001041.4(SI):c.2985A>G (p.Ile995Met)	SI (I995M)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency	GUncertain significance
Select item 900631	NM_001041.4(SI):c.2966G>A (p.Arg989His)	SI (R989H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 344034	NM_001041.4(SI):c.2923T>C (p.Tyr975His)	SI (Y975H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 344035	NM_001041.4(SI):c.2892G>A (p.Thr964=)	SI	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 344036	NM_001041.4(SI):c.2887A>C (p.Arg963=)	SI	Single nucleotide variant (synonymous variant)	Sucrase-isomaltase deficiency +1 more	GBenign/Likely benign
Select item 902310	NM_001041.4(SI):c.2859A>G (p.Gln953=)	SI	Single nucleotide variant (synonymous variant)	Sucrase-isomaltase deficiency	GUncertain significance
Select item 344037	NM_001041.4(SI):c.2789A>G (p.Gln930Arg)	SI (Q930R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 902311	NM_001041.4(SI):c.2772A>G (p.Gly924=)	SI	Single nucleotide variant (synonymous variant)	Sucrase-isomaltase deficiency	GUncertain significance
Select item 902312	NM_001041.4(SI):c.2738T>C (p.Val913Ala)	SI (V913A)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency	GUncertain significance
Select item 344039	NM_001041.4(SI):c.2737-9dup	SI	Duplication (intron variant)	not provided +1 more	GLikely benign
Select item 344038	NM_001041.4(SI):c.2737-8del	SI	Deletion (intron variant)	Sucrase-isomaltase deficiency	GUncertain significance
Select item 344041	NM_001041.4(SI):c.2737-23_2737-22dup	SI	Duplication (intron variant)	Sucrase-isomaltase deficiency	GUncertain significance
Select item 344040	NM_001041.4(SI):c.2737-23dup	SI	Duplication (intron variant)	Sucrase-isomaltase deficiency	GLikely benign
Select item 902313	NM_001041.4(SI):c.2681A>G (p.Glu894Gly)	SI (E894G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 902314	NM_001041.4(SI):c.2678C>T (p.Ala893Val)	SI (A893V)	Single nucleotide variant (missense variant)	SI-related condition +2 more	GConflicting classifications of pathogenicity
Select item 344042	NM_001041.4(SI):c.2599T>C (p.Tyr867His)	SI (Y867H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 344043	NM_001041.4(SI):c.2566-11A>G	SI	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 976591	NM_001041.4(SI):c.2510C>T (p.Thr837Ile)	SI (T837I)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency	GUncertain significance
Select item 976592	NM_001041.4(SI):c.2428C>A (p.Arg810Ser)	SI (R810S)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency	GUncertain significance
Select item 631912	NM_001041.4(SI):c.2401G>T (p.Glu801Ter)	SI (E801*)	Single nucleotide variant (nonsense)	Sucrase-isomaltase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 344044	NM_001041.4(SI):c.2395A>G (p.Ile799Val)	SI (I799V)	Single nucleotide variant (missense variant)	SI-related condition +2 more	GConflicting classifications of pathogenicity
Select item 344045	NM_001041.4(SI):c.2381G>T (p.Gly794Val)	SI (G794V)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency	GUncertain significance
Select item 976593	NM_001041.4(SI):c.2320A>G (p.Arg774Gly)	SI (R774G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 976594	NM_001041.4(SI):c.2244+14G>A	SI	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 344046	NM_001041.4(SI):c.2159+12G>A	SI	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 976595	NM_001041.4(SI):c.1919A>G (p.Glu640Gly)	SI (E640G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 631913	NM_001041.4(SI):c.1911_1912insCTTCT (p.Val638fs)	SI (V638fs)	Insertion (frameshift variant)	Sucrase-isomaltase deficiency	GUncertain significance

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