"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SI"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1569205	NM_001041.4(SI):c.5385G>A (p.Ser1795=)	SI	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 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 1351358	NM_001041.4(SI):c.5266A>G (p.Ile1756Val)	SI (I1756V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1125936	NM_001041.4(SI):c.5245C>A (p.Gln1749Lys)	SI (Q1749K)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1669109	NM_001041.4(SI):c.5198-7T>C	SI	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1165342	NM_001041.4(SI):c.5198-20dup	SI	Duplication (intron variant)	not specified +2 more	GBenign
Select item 1646571	NM_001041.4(SI):c.5109-15A>C	SI	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1632563	NM_001041.4(SI):c.5108+16A>G	SI	Single nucleotide variant (intron variant)	Sucrase-isomaltase deficiency +1 more	GLikely benign
Select item 1595537	NM_001041.4(SI):c.5049A>G (p.Leu1683=)	SI	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1166535	NM_001041.4(SI):c.4999G>A (p.Val1667Ile)	SI (V1667I)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +1 more	GBenign/Likely benign
Select item 1495460	NM_001041.4(SI):c.4963C>T (p.Arg1655Trp)	SI (R1655W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1470670	NM_001041.4(SI):c.4961C>G (p.Ala1654Gly)	SI (A1654G)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +1 more	GUncertain significance
Select item 344004	NM_001041.4(SI):c.4873T>G (p.Phe1625Val)	SI (F1625V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 899435	NM_001041.4(SI):c.4849G>C (p.Asp1617His)	SI (D1617H)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +2 more	GUncertain significance
Select item 1367857	NM_001041.4(SI):c.4842-3G>A	SI	Single nucleotide variant (intron variant)	Sucrase-isomaltase deficiency +1 more	GUncertain significance
Select item 984937	NM_001041.4(SI):c.4825C>T (p.Arg1609Ter)	SI (R1609*)	Single nucleotide variant (nonsense)	Sucrase-isomaltase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1489970	NM_001041.4(SI):c.4705G>A (p.Ala1569Thr)	SI (A1569T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1358546	NM_001041.4(SI):c.4630C>T (p.Arg1544Cys)	SI (R1544C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1553937	NM_001041.4(SI):c.4541-18T>G	SI	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1442503	NM_001041.4(SI):c.4500C>T (p.Asp1500=)	SI	Single nucleotide variant (synonymous variant)	Sucrase-isomaltase deficiency +1 more	GLikely benign
Select item 1361845	NM_001041.4(SI):c.4469G>T (p.Ser1490Ile)	SI (S1490I)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +2 more	GUncertain significance
Select item 1437081	NM_001041.4(SI):c.4396C>A (p.Pro1466Thr)	SI (P1466T)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +1 more	GUncertain significance
Select item 1167518	NM_001041.4(SI):c.4275A>G (p.Thr1425=)	SI	Single nucleotide variant (synonymous variant)	Sucrase-isomaltase deficiency +1 more	GBenign/Likely benign
Select item 1634303	NM_001041.4(SI):c.4268-12G>C	SI	Single nucleotide variant (intron variant)	Sucrase-isomaltase deficiency +1 more	GLikely benign
Select item 1325070	NM_001041.4(SI):c.4251T>G (p.Tyr1417Ter)	SI (Y1417*)	Single nucleotide variant (nonsense)	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)	not provided +1 more	GUncertain significance
Select item 344017	NM_001041.4(SI):c.4099A>G (p.Arg1367Gly)	SI (R1367G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1655005	NM_001041.4(SI):c.4062+18T>C	SI	Single nucleotide variant (intron variant)	Sucrase-isomaltase deficiency +1 more	GLikely benign
Select item 1427811	NM_001041.4(SI):c.4028T>C (p.Ile1343Thr)	SI (I1343T)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +1 more	GUncertain significance
Select item 1667920	NM_001041.4(SI):c.4008A>G (p.Pro1336=)	SI	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1658909	NM_001041.4(SI):c.4000-15T>A	SI	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1634259	NM_001041.4(SI):c.4000-18A>G	SI	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1606199	NM_001041.4(SI):c.3972A>G (p.Pro1324=)	SI	Single nucleotide variant (synonymous variant)	Sucrase-isomaltase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1501072	NM_001041.4(SI):c.3955G>A (p.Val1319Ile)	SI (V1319I)	Single nucleotide variant (missense variant)	not provided +1 more	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 1635653	NM_001041.4(SI):c.3888+12G>A	SI	Single nucleotide variant (intron variant)	Sucrase-isomaltase deficiency +1 more	GLikely benign
Select item 591974	NM_001041.4(SI):c.3865G>A (p.Gly1289Arg)	SI (G1289R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1482783	NM_001041.4(SI):c.3854T>C (p.Ile1285Thr)	SI (I1285T)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +1 more	GUncertain significance
Select item 1593733	NM_001041.4(SI):c.3732C>T (p.Asp1244=)	SI	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1626282	NM_001041.4(SI):c.3663T>C (p.Tyr1221=)	SI	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1537928	NM_001041.4(SI):c.3634-5del	SI	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1633246	NM_001041.4(SI):c.3634-14A>T	SI	Single nucleotide variant (intron variant)	Sucrase-isomaltase deficiency +1 more	GLikely benign
Select item 1358232	NM_001041.4(SI):c.3538A>G (p.Thr1180Ala)	SI (T1180A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1380700	NM_001041.4(SI):c.3475G>A (p.Glu1159Lys)	SI (E1159K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1101722	NM_001041.4(SI):c.3466C>T (p.Leu1156=)	SI	Single nucleotide variant (synonymous variant)	Sucrase-isomaltase deficiency +1 more	GLikely benign
Select item 1590009	NM_001041.4(SI):c.3423+10A>G	SI	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1429530	NM_001041.4(SI):c.3423+3A>G	SI	Single nucleotide variant (intron variant)	Sucrase-isomaltase deficiency +1 more	GUncertain significance
Select item 344030	NM_001041.4(SI):c.3408A>C (p.Arg1136Ser)	SI (R1136S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 432014	NM_001041.4(SI):c.3370C>T (p.Arg1124Ter)	SI (R1124*)	Single nucleotide variant (nonsense)	Sucrase-isomaltase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 1505758	NM_001041.4(SI):c.3359C>T (p.Thr1120Ile)	SI (T1120I)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +1 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 1062257	NM_001041.4(SI):c.3236G>T (p.Arg1079Ile)	SI (R1079I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1454102	NM_001041.4(SI):c.3229C>T (p.Arg1077Ter)	SI (R1077*)	Single nucleotide variant (nonsense)	Sucrase-isomaltase deficiency +1 more	GPathogenic
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 1379187	NM_001041.4(SI):c.3211C>G (p.Pro1071Ala)	SI (P1071A)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +1 more	GUncertain significance
Select item 1377529	NM_001041.4(SI):c.3064G>A (p.Val1022Met)	SI (V1022M)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +1 more	GUncertain significance
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 1425714	NM_001041.4(SI):c.2894G>A (p.Gly965Asp)	SI (G965D)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +1 more	GUncertain significance
Select item 1466573	NM_001041.4(SI):c.2891C>T (p.Thr964Met)	SI (T964M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1355490	NM_001041.4(SI):c.2865C>A (p.Cys955Ter)	SI (C955*)	Single nucleotide variant (nonsense)	Sucrase-isomaltase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1623629	NM_001041.4(SI):c.2862G>A (p.Lys954=)	SI	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1345400	NM_001041.4(SI):c.2828G>C (p.Cys943Ser)	SI (C943S)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1517659	NM_001041.4(SI):c.2737G>T (p.Val913Phe)	SI (V913F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1491905	NM_001041.4(SI):c.2737-1G>C	SI	Single nucleotide variant (splice acceptor variant)	Sucrase-isomaltase deficiency +1 more	GLikely pathogenic
Select item 344040	NM_001041.4(SI):c.2737-23dup	SI	Duplication (intron variant)	Sucrase-isomaltase deficiency	GLikely benign
Select item 1601458	NM_001041.4(SI):c.2737-12_2737-11del	SI	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1529825	NM_001041.4(SI):c.2737-11del	SI	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1529288	NM_001041.4(SI):c.2737-17_2737-11del	SI	Deletion (intron variant)	not provided +1 more	GLikely benign
Select item 1569117	NM_001041.4(SI):c.2721T>C (p.Tyr907=)	SI	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 591922	NM_001041.4(SI):c.2654_2657del (p.Asp885fs)	SI (D885fs)	Microsatellite (frameshift variant)	Sucrase-isomaltase deficiency +1 more	GPathogenic/Likely pathogenic
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 1390077	NM_001041.4(SI):c.2455G>A (p.Ala819Thr)	SI (A819T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1428632	NM_001041.4(SI):c.2380G>A (p.Gly794Ser)	SI (G794S)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +1 more	GUncertain significance
Select item 1534373	NM_001041.4(SI):c.2361A>C (p.Ile787=)	SI	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1561285	NM_001041.4(SI):c.2343T>C (p.Tyr781=)	SI	Single nucleotide variant (synonymous variant)	Sucrase-isomaltase deficiency +1 more	GBenign/Likely benign
Select item 1367638	NM_001041.4(SI):c.2338A>G (p.Met780Val)	SI (M780V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1529115	NM_001041.4(SI):c.2301+20T>G	SI	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
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 1665366	NM_001041.4(SI):c.2159+11C>T	SI	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1437881	NM_001041.4(SI):c.2150T>A (p.Val717Asp)	SI (V717D)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +1 more	GUncertain significance
Select item 1334587	NM_001041.4(SI):c.2074C>T (p.Arg692Cys)	SI (R692C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1179095	NM_001041.4(SI):c.2025dup (p.Gly676fs)	SI (G676fs)	Duplication (frameshift variant)	Sucrase-isomaltase deficiency	GPathogenic
Select item 1666142	NM_001041.4(SI):c.1995C>T (p.Asp665=)	SI	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1361658	NM_001041.4(SI):c.1943G>A (p.Arg648Lys)	SI (R648K)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +1 more	GUncertain significance
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 1632678	NM_001041.4(SI):c.1887+8A>C	SI	Single nucleotide variant (intron variant)	Sucrase-isomaltase deficiency +1 more	GLikely benign
Select item 1424821	NM_001041.4(SI):c.1762C>T (p.Arg588Cys)	SI (R588C)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +2 more	GUncertain significance
Select item 1418	NM_001041.4(SI):c.1730T>G (p.Val577Gly)	SI (V577G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1395313	NM_001041.4(SI):c.1694G>C (p.Ser565Thr)	SI (S565T)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +2 more	GUncertain significance
Select item 1623823	NM_001041.4(SI):c.1686T>C (p.Tyr562=)	SI	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1662084	NM_001041.4(SI):c.1587G>A (p.Pro529=)	SI	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1415745	NM_001041.4(SI):c.1567A>C (p.Asn523His)	SI (N523H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 900704	NM_001041.4(SI):c.1544G>T (p.Gly515Val)	SI (G515V)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +1 more	GUncertain significance
Select item 1349484	NM_001041.4(SI):c.1526T>C (p.Val509Ala)	SI (V509A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1170253	NM_001041.4(SI):c.1506T>G (p.Leu502=)	SI	Single nucleotide variant (synonymous variant)	Sucrase-isomaltase deficiency +1 more	GBenign/Likely benign
Select item 1509274	NM_001041.4(SI):c.1420T>C (p.Tyr474His)	SI (Y474H)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +1 more	GUncertain significance
Select item 1441406	NM_001041.4(SI):c.1378A>T (p.Ser460Cys)	SI (S460C)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +1 more	GUncertain significance
Select item 591340	NM_001041.4(SI):c.1347ACA[1] (p.Gln450del)	SI (Q450del)	Microsatellite (inframe_deletion)	Sucrase-isomaltase deficiency	GUncertain significance

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