C0039373[trait identifier] AND "Women's Health and Genetics/Laboratory - ClinVar

Search results

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 528047	NM_000520.6(HEXA):c.1549dup (p.Leu517fs)	HEXA (L517fs +1 more)	Duplication (frameshift variant)	Tay-Sachs disease	GPathogenic/Likely pathogenic
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 specified +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 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 specified +2 more	GPathogenic/Likely pathogenic
Select item 619222	NM_000520.6(HEXA):c.1499del (p.Leu500fs)	HEXA (L511fs +1 more)	Deletion (frameshift variant +1 more)	Tay-Sachs disease +1 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)	Inborn genetic diseases +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 3892	NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys)	HEXA (E482K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 1459589	NM_000520.6(HEXA):c.1435del (p.Ala479fs)	HEXA (A490fs +1 more)	Deletion (frameshift variant +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 3941	NM_000520.6(HEXA):c.1422G>C (p.Trp474Cys)	HEXA (W474C +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GPathogenic/Likely pathogenic
Select item 554686	NM_000520.6(HEXA):c.1421+1G>T	HEXA	Single nucleotide variant (splice donor variant)	Tay-Sachs disease	GPathogenic/Likely pathogenic
Select item 3890	NM_000520.6(HEXA):c.1421+1G>C	HEXA	Single nucleotide variant (splice donor variant)	not provided +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)	Tay-Sachs disease +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)	Tay-Sachs disease +3 more	GConflicting classifications of pathogenicity
Select item 2168862	NM_000520.6(HEXA):c.1382G>T (p.Gly461Val)	HEXA (G472V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
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 189046	NM_000520.6(HEXA):c.1307_1308del (p.Ile436fs)	HEXA (I436fs +1 more)	Deletion (frameshift variant)	Tay-Sachs disease	GPathogenic/Likely pathogenic
Select item 100729	NM_000520.6(HEXA):c.1305C>T (p.Tyr435=)	HEXA	Single nucleotide variant (synonymous variant)	Leukodystrophy +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 1328995	NM_000520.6(HEXA):c.1196A>T (p.Asn399Ile)	HEXA (N399I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 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 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 972237	NM_000520.6(HEXA):c.1087_1088delinsTA (p.Val363Tyr)	HEXA (V363Y +1 more)	Indel (missense variant)	not specified +1 more	GUncertain significance
Select item 554039	NM_000520.6(HEXA):c.1074-7_1074-3del	HEXA	Microsatellite (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3920	NM_000520.6(HEXA):c.1073+1G>A	HEXA	Single nucleotide variant (splice donor variant)	HEXA-related condition +3 more	GPathogenic/Likely pathogenic
Select item 2501085	NM_000520.6(HEXA):c.1039_1056del (p.Asp347_Glu352del)	HEXA	Deletion (inframe_deletion +1 more)	Tay-Sachs disease	GLikely pathogenic
Select item 370773	NM_000520.6(HEXA):c.1043_1046del (p.Phe348fs)	HEXA (F348fs +1 more)	Deletion (frameshift variant +1 more)	Tay-Sachs disease	GPathogenic/Likely pathogenic
Select item 3916	NM_000520.6(HEXA):c.987G>A (p.Trp329Ter)	HEXA (W329* +1 more)	Single nucleotide variant (nonsense +1 more)	Tay-Sachs disease	GLikely pathogenic
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 3943	NM_000520.6(HEXA):c.972T>A (p.Val324=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 221281	NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr)	HEXA (D322Y +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GPathogenic/Likely pathogenic
Select item 992197	NM_000520.6(HEXA):c.962G>A (p.Gly321Glu)	HEXA (G321E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 562219	NM_000520.6(HEXA):c.929_930del (p.Ser310fs)	HEXA (S310fs +1 more)	Microsatellite (frameshift variant +1 more)	Tay-Sachs disease +1 more	GPathogenic
Select item 188812	NM_000520.6(HEXA):c.912CTT[1] (p.Phe305del)	HEXA (F305del +1 more)	Microsatellite (inframe_deletion +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 1328994	NM_000520.6(HEXA):c.907A>C (p.Thr303Pro)	HEXA (T303P +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease +1 more	GUncertain significance
Select item 3933	NM_000520.6(HEXA):c.902T>G (p.Met301Arg)	HEXA (M301R +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease, variant AB +1 more	GConflicting classifications of pathogenicity
Select item 209160	NM_000520.6(HEXA):c.806-7G>A	HEXA	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
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)	HEXA-related condition +1 more	GPathogenic
Select item 375357	NM_000520.6(HEXA):c.805G>C (p.Gly269Arg)	HEXA (G269R +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GLikely pathogenic
Select item 3898	NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)	HEXA (G269S +1 more)	Single nucleotide variant (missense variant +1 more)	HEXA-related condition +3 more	GPathogenic/Likely pathogenic
Select item 375356	NM_000520.6(HEXA):c.788C>T (p.Thr263Ile)	HEXA (T263I +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease +1 more	GConflicting classifications of pathogenicity
Select item 2445713	NM_000520.6(HEXA):c.778C>T (p.Pro260Ser)	HEXA (P260S +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GLikely pathogenic
Select item 3924	NM_000520.6(HEXA):c.772G>C (p.Asp258His)	HEXA (D258H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +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 specified +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 381668	NM_000520.6(HEXA):c.748G>A (p.Gly250Ser)	HEXA (G250S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1426855	NM_000520.6(HEXA):c.746G>A (p.Arg249Gln)	HEXA (R249Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 126510	NM_000520.4(HEXA):c.745C>T (p.Arg249Trp)	HEXA (R249W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity; other
Select item 3922	NM_000520.6(HEXA):c.739C>T (p.Arg247Trp)	HEXA (R247W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign; other
Select item 553250	NM_000520.6(HEXA):c.736G>A (p.Ala246Thr)	HEXA (A246T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
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 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 929000	NM_000520.6(HEXA):c.616del (p.Leu205_Val206insTer)	HEXA	Deletion (nonsense +1 more)	Tay-Sachs disease	GLikely pathogenic
Select item 3931	NM_000520.6(HEXA):c.611A>G (p.His204Arg)	HEXA (H204R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3927	NM_000520.6(HEXA):c.590A>C (p.Lys197Thr)	HEXA (K197T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
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 3896	NM_000520.6(HEXA):c.533G>A (p.Arg178His)	HEXA (R178H +1 more)	Single nucleotide variant (missense variant +1 more)	HEXA-related condition +4 more	GPathogenic/Likely pathogenic
Select item 3900	NM_000520.6(HEXA):c.509G>A (p.Arg170Gln)	HEXA (R170Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +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 984491	NM_000520.6(HEXA):c.496del (p.Arg166fs)	HEXA (R166fs +1 more)	Deletion (frameshift variant +1 more)	Tay-Sachs disease	GPathogenic
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 371314	NM_000520.6(HEXA):c.436del (p.Val146fs)	HEXA (V146fs +1 more)	Deletion (frameshift variant +1 more)	Tay-Sachs disease	GLikely 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 928998	NM_000520.6(HEXA):c.413-2A>G	HEXA	Single nucleotide variant (splice acceptor variant)	Tay-Sachs disease	GPathogenic/Likely pathogenic
Select item 3904	NM_000520.6(HEXA):c.409C>T (p.Arg137Ter)	HEXA (R137* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 3930	NM_000520.6(HEXA):c.380T>G (p.Leu127Arg)	HEXA (L127R +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GPathogenic
Select item 1343493	NM_000520.6(HEXA):c.358A>G (p.Ile120Val)	HEXA (I120V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 317046	NM_000520.6(HEXA):c.346+13C>T	HEXA	Single nucleotide variant (intron variant)	HEXA-related condition +2 more	GConflicting classifications of pathogenicity
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 375349	NM_000520.6(HEXA):c.316C>T (p.Gln106Ter)	HEXA (Q106* +1 more)	Single nucleotide variant (nonsense +1 more)	Tay-Sachs disease	GLikely pathogenic
Select item 3891	NM_000520.4(HEXA):c.-2564_253+5128delinsG	HEXA, HEXA-AS1 +1 more	Indel	Tay-Sachs disease	GPathogenic/Likely pathogenic
Select item 453185	NM_000520.6(HEXA):c.233G>A (p.Trp78Ter)	HEXA (W78*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
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)	not provided +1 more	GPathogenic
Select item 987865	NM_000520.6(HEXA):c.103C>T (p.Gln35Ter)	HEXA (Q35*)	Single nucleotide variant (nonsense +1 more)	Tay-Sachs disease	GLikely pathogenic
Select item 3911	NM_000520.6(HEXA):c.78G>A (p.Trp26Ter)	HEXA (W26*)	Single nucleotide variant (nonsense +1 more)	Tay-Sachs disease	GPathogenic
Select item 557460	NM_000520.6(HEXA):c.72G>A (p.Trp24Ter)	HEXA (W24*)	Single nucleotide variant (nonsense +1 more)	Tay-Sachs disease	GPathogenic/Likely pathogenic
Select item 554702	NM_000520.6(HEXA):c.10T>C (p.Ser4Pro)	HEXA (S4P)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 438810	NM_000520.6(HEXA):c.8G>C (p.Ser3Thr)	HEXA (S3T)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 189126	NM_000520.6(HEXA):c.2T>C (p.Met1Thr)	HEXA (M1T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3914	NM_000520.6(HEXA):c.1A>G (p.Met1Val)	HEXA (M1V)	Single nucleotide variant (missense variant +2 more)	Tay-Sachs disease	GPathogenic
Select item 2429157	NC_000015.9:g.(72636482_72637786)_(72639052_72640026)del	HEXA	Deletion	Tay-Sachs disease	GLikely pathogenic
Select item 1698490	NC_000015.9:g.(72648959_72668060)_(72668815_?)del	HEXA	Deletion	Tay-Sachs disease	GPathogenic

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Items: 95