"Natera, Inc."[submitter] AND "HEXA"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 989841	NM_000520.6(HEXA):c.1556T>A (p.Val519Glu)	HEXA (V519E +1 more)	Single nucleotide variant (missense variant)	Tay-Sachs disease	GUncertain significance
Select item 851122	NM_000520.6(HEXA):c.1529G>A (p.Arg510Gln)	HEXA (R521Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 188954	NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter)	HEXA (R510* +1 more)	Single nucleotide variant (nonsense)	Tay-Sachs disease +1 more	GPathogenic
Select item 194339	NM_000520.6(HEXA):c.1527-6T>C	HEXA	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1192227	NM_000520.6(HEXA):c.1525_1526+27del	HEXA	Deletion (non-coding transcript variant +1 more)	Tay-Sachs disease	GPathogenic/Likely pathogenic
Select item 93191	NM_000520.6(HEXA):c.1518A>G (p.Glu506=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 3895	NM_000520.6(HEXA):c.1511G>A (p.Arg504His)	HEXA (R504H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3906	NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys)	HEXA (R504C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3899	NM_000520.6(HEXA):c.1496G>A (p.Arg499His)	HEXA (R499H +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease +2 more	GPathogenic
Select item 3915	NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys)	HEXA (R499C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 445397	NM_000520.6(HEXA):c.1490A>G (p.Tyr497Cys)	HEXA (Y497C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 705493	NM_000520.6(HEXA):c.1477C>T (p.Leu493=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease	GLikely benign
Select item 656465	NM_000520.6(HEXA):c.1476C>G (p.Asp492Glu)	HEXA (D492E +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GUncertain significance
Select item 375365	NM_000520.6(HEXA):c.1454G>A (p.Trp485Ter)	HEXA (W485* +1 more)	Single nucleotide variant (nonsense +1 more)	Tay-Sachs disease	GPathogenic
Select item 287080	NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr)	HEXA (A479T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 938301	NM_000520.6(HEXA):c.1421+7del	HEXA	Deletion (intron variant)	Tay-Sachs disease	GLikely benign
Select item 3890	NM_000520.6(HEXA):c.1421+1G>C	HEXA	Single nucleotide variant (splice donor variant)	Tay-Sachs disease +1 more	GPathogenic
Select item 555026	NM_000520.6(HEXA):c.1416G>C (p.Arg472Ser)	HEXA (R472S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 555154	NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn)	HEXA (D465N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 695932	NM_000520.6(HEXA):c.1338T>C (p.Pro446=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease +3 more	GLikely benign
Select item 256350	NM_000520.6(HEXA):c.1331-46G>A	HEXA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 371490	NM_000520.6(HEXA):c.1330+1G>A	HEXA	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 93189	NM_000520.6(HEXA):c.1306A>G (p.Ile436Val)	HEXA (I436V +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 100729	NM_000520.6(HEXA):c.1305C>T (p.Tyr435=)	HEXA	Single nucleotide variant (synonymous variant)	Tay-Sachs disease +4 more	GPathogenic/Likely pathogenic
Select item 3889	NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)	HEXA (Y427fs +1 more)	Duplication (frameshift variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 1037233	NM_000520.6(HEXA):c.1271G>A (p.Arg424His)	HEXA (R424H +1 more)	Single nucleotide variant (missense variant)	Tay-Sachs disease	GUncertain significance
Select item 841751	NM_000520.6(HEXA):c.1264C>G (p.Leu422Val)	HEXA (L422V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 554847	NM_000520.6(HEXA):c.1231G>A (p.Gly411Ser)	HEXA (G411S +1 more)	Single nucleotide variant (missense variant)	Tay-Sachs disease +1 more	GConflicting classifications of pathogenicity
Select item 697361	NM_000520.6(HEXA):c.1230C>T (p.Ala410=)	HEXA	Single nucleotide variant (synonymous variant)	Tay-Sachs disease +1 more	GLikely benign
Select item 554854	NM_000520.6(HEXA):c.1229C>T (p.Ala410Val)	HEXA (A410V +1 more)	Single nucleotide variant (missense variant)	Tay-Sachs disease	GUncertain significance
Select item 317042	NM_000520.6(HEXA):c.1216C>T (p.Leu406=)	HEXA	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 93188	NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp)	HEXA (N399D +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 917630	NM_000520.6(HEXA):c.1183del (p.Asp395fs)	HEXA (D395fs +1 more)	Deletion (frameshift variant)	Tay-Sachs disease	GPathogenic/Likely pathogenic
Select item 554870	NM_000520.6(HEXA):c.1178G>A (p.Arg393Gln)	HEXA (R393Q +1 more)	Single nucleotide variant (missense variant)	Tay-Sachs disease +1 more	GUncertain significance
Select item 3905	NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter)	HEXA (R393* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 551737	NM_000520.6(HEXA):c.1168C>T (p.Gln390Ter)	HEXA (Q390* +1 more)	Single nucleotide variant (nonsense)	not specified +2 more	GPathogenic/Likely pathogenic
Select item 968774	NM_000520.6(HEXA):c.1164C>G (p.Ile388Met)	HEXA (I388M +1 more)	Single nucleotide variant (missense variant)	Tay-Sachs disease	GUncertain significance
Select item 555127	NM_000520.6(HEXA):c.1146+8G>A	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease +1 more	GBenign/Likely benign
Select item 189166	NM_000520.6(HEXA):c.1123del (p.Glu375fs)	HEXA (E375fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 317043	NM_000520.6(HEXA):c.1107C>T (p.Gly369=)	HEXA	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 555024	NM_000520.6(HEXA):c.1087G>A (p.Val363Ile)	HEXA (V363I +1 more)	Single nucleotide variant (missense variant)	Tay-Sachs disease	GUncertain significance
Select item 256349	NM_000520.6(HEXA):c.1074-43C>G	HEXA	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 3920	NM_000520.6(HEXA):c.1073+1G>A	HEXA	Single nucleotide variant (splice donor variant)	Tay-Sachs disease +3 more	GPathogenic/Likely pathogenic
Select item 582729	NM_000520.6(HEXA):c.1073C>T (p.Thr358Met)	HEXA (T358M +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GUncertain significance
Select item 943184	NM_000520.6(HEXA):c.1039G>T (p.Asp347Tyr)	HEXA (D347Y +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GUncertain significance
Select item 317044	NM_000520.6(HEXA):c.1033G>A (p.Gly345Ser)	HEXA (G345S +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GUncertain significance
Select item 649716	NM_000520.6(HEXA):c.1028G>T (p.Gly343Val)	HEXA (G354V +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease +1 more	GUncertain significance
Select item 188929	NM_000520.6(HEXA):c.986+3A>G	HEXA	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1068265	NM_000520.6(HEXA):c.986+1G>A	HEXA	Single nucleotide variant (splice donor variant)	Tay-Sachs disease	GLikely pathogenic
Select item 562219	NM_000520.6(HEXA):c.929_930del (p.Ser310fs)	HEXA (S310fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 188812	NM_000520.6(HEXA):c.912CTT[1] (p.Phe305del)	HEXA (F305del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 699587	NM_000520.6(HEXA):c.906C>T (p.Ser302=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1060883	NM_000520.6(HEXA):c.855C>T (p.Gly285=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease	GLikely benign
Select item 811723	NM_000520.6(HEXA):c.836C>G (p.Ser279Cys)	HEXA (S279C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 842051	NM_000520.6(HEXA):c.806G>A (p.Gly269Asp)	HEXA (G280D +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GLikely pathogenic
Select item 256353	NM_000520.6(HEXA):c.806-48G>T	HEXA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 375358	NM_000520.6(HEXA):c.805+1G>C	HEXA	Single nucleotide variant (splice donor variant)	Tay-Sachs disease	GPathogenic
Select item 3938	NM_000520.6(HEXA):c.805+1G>A	HEXA	Single nucleotide variant (splice donor variant)	Tay-Sachs disease +1 more	GPathogenic
Select item 3898	NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)	HEXA (G269S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 989842	NM_000520.6(HEXA):c.789T>C (p.Thr263=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease	GUncertain significance
Select item 3924	NM_000520.6(HEXA):c.772G>C (p.Asp258His)	HEXA (D258H +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease +1 more	GPathogenic/Likely pathogenic
Select item 256352	NM_000520.6(HEXA):c.759G>A (p.Val253=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 522667	NM_000520.6(HEXA):c.754C>T (p.Arg252Cys)	HEXA (R252C +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GPathogenic/Likely pathogenic
Select item 3928	NM_000520.6(HEXA):c.672+1G>A	HEXA	Single nucleotide variant (splice donor variant)	Tay-Sachs disease +1 more	GPathogenic/Likely pathogenic
Select item 652828	NM_000520.6(HEXA):c.667A>G (p.Arg223Gly)	HEXA (R234G +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GUncertain significance
Select item 633262	NM_000520.6(HEXA):c.640G>A (p.Glu214Lys)	HEXA (E214K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 936196	NM_000520.6(HEXA):c.631_634del (p.Phe211fs)	HEXA (F211fs +1 more)	Microsatellite (frameshift variant +1 more)	Tay-Sachs disease	GPathogenic
Select item 662159	NM_000520.6(HEXA):c.587A>G (p.Asn196Ser)	HEXA (N207S +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GUncertain significance
Select item 697552	NM_000520.6(HEXA):c.582G>A (p.Ala194=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease +2 more	GLikely benign
Select item 458318	NM_000520.6(HEXA):c.581C>T (p.Ala194Val)	HEXA (A194V +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease +1 more	GUncertain significance
Select item 496013	NM_000520.6(HEXA):c.574G>A (p.Val192Ile)	HEXA (V192I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 569012	NM_000520.6(HEXA):c.571-1G>T	HEXA	Single nucleotide variant (splice acceptor variant)	Tay-Sachs disease	GPathogenic
Select item 496012	NM_000520.6(HEXA):c.548T>A (p.Leu183His)	HEXA (L183H +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease +1 more	GLikely benign
Select item 554859	NM_000520.6(HEXA):c.545C>T (p.Pro182Leu)	HEXA (P182L +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease +1 more	GUncertain significance
Select item 197682	NM_000520.6(HEXA):c.536A>G (p.His179Arg)	HEXA (H179R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3896	NM_000520.6(HEXA):c.533G>A (p.Arg178His)	HEXA (R178H +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease +4 more	GPathogenic/Likely pathogenic
Select item 3897	NM_000520.6(HEXA):c.532C>T (p.Arg178Cys)	HEXA (R178C +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GPathogenic
Select item 700042	NM_000520.6(HEXA):c.517C>T (p.Leu173=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease +1 more	GLikely benign
Select item 3900	NM_000520.6(HEXA):c.509G>A (p.Arg170Gln)	HEXA (R170Q +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease +1 more	GPathogenic/Likely pathogenic
Select item 3925	NM_000520.6(HEXA):c.508C>T (p.Arg170Trp)	HEXA (R170W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 93192	NM_000520.6(HEXA):c.497G>A (p.Arg166His)	HEXA (R166H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 839454	NM_000520.6(HEXA):c.478G>A (p.Glu160Lys)	HEXA (E171K +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GUncertain significance
Select item 496011	NM_000520.6(HEXA):c.460-1G>T	HEXA	Single nucleotide variant (splice acceptor variant)	Tay-Sachs disease	GPathogenic/Likely pathogenic
Select item 374505	NM_000520.6(HEXA):c.459+5G>A	HEXA	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3932	NM_000520.6(HEXA):c.425_426del (p.Thr141_Phe142insTer)	HEXA	Deletion (nonsense +1 more)	Tay-Sachs disease	GPathogenic
Select item 853454	NM_000520.6(HEXA):c.410G>A (p.Arg137Gln)	HEXA (R148Q +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease +1 more	GUncertain significance
Select item 3904	NM_000520.6(HEXA):c.409C>T (p.Arg137Ter)	HEXA (R137* +1 more)	Single nucleotide variant (nonsense +1 more)	Tay-Sachs disease +1 more	GPathogenic
Select item 848178	NM_000520.6(HEXA):c.373T>G (p.Cys125Gly)	HEXA (C125G +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GUncertain significance
Select item 1003011	NM_000520.6(HEXA):c.347A>T (p.Tyr116Phe)	HEXA (Y116F +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GUncertain significance
Select item 556348	NM_000520.6(HEXA):c.346+1G>A	HEXA	Single nucleotide variant (splice donor variant)	Tay-Sachs disease	GPathogenic
Select item 3893	NM_000520.6(HEXA):c.346+1G>C	HEXA	Single nucleotide variant (splice donor variant)	Tay-Sachs disease	GPathogenic/Likely pathogenic
Select item 652196	NM_000520.6(HEXA):c.345T>G (p.Asn115Lys)	HEXA (N115K +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease +1 more	GUncertain significance
Select item 195081	NM_000520.6(HEXA):c.298G>T (p.Val100Phe)	HEXA (V100F +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease +1 more	GUncertain significance
Select item 439785	NM_000520.6(HEXA):c.259C>T (p.Arg87Trp)	HEXA (R87W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 989843	NM_000520.6(HEXA):c.254-33G>A	HEXA (G85D)	Single nucleotide variant (missense variant +1 more)	HEXA-related disorder +1 more	GLikely benign
Select item 1062447	NM_000520.6(HEXA):c.197A>G (p.Gln66Arg)	HEXA (Q66R)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GUncertain significance
Select item 496010	NM_000520.6(HEXA):c.187G>T (p.Glu63Ter)	HEXA (E63*)	Single nucleotide variant (nonsense +1 more)	Tay-Sachs disease	GPathogenic/Likely pathogenic
Select item 379311	NM_000520.6(HEXA):c.155C>A (p.Ser52Ter)	HEXA (S52*)	Single nucleotide variant (nonsense +1 more)	Tay-Sachs disease +1 more	GPathogenic
Select item 554858	NM_000520.6(HEXA):c.134A>C (p.Gln45Pro)	HEXA (Q45P)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GUncertain significance
Select item 838291	NM_000520.6(HEXA):c.106C>T (p.Arg36Cys)	HEXA (R36C)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GUncertain significance

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