C0039373[trait identifier] AND "Counsyl"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 317040	NM_000520.6(HEXA):c.*12C>T	HEXA	Single nucleotide variant (3 prime UTR variant)	Tay-Sachs disease	GUncertain significance
Select item 550258	NM_000520.6(HEXA):c.1578del (p.Phe526fs)	HEXA (F537fs +1 more)	Deletion (frameshift variant)	Tay-Sachs disease	GUncertain significance
Select item 557264	NM_000520.6(HEXA):c.1571del (p.Gln524fs)	HEXA (Q524fs +1 more)	Deletion (frameshift variant)	Tay-Sachs disease	GUncertain significance
Select item 194339	NM_000520.6(HEXA):c.1527-6T>C	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease +2 more	GConflicting classifications of pathogenicity
Select item 558499	NM_000520.6(HEXA):c.1526+2T>C	HEXA	Single nucleotide variant (non-coding transcript variant +1 more)	Tay-Sachs disease	GLikely pathogenic
Select item 554357	NM_000520.6(HEXA):c.1526+1G>T	HEXA	Single nucleotide variant (non-coding transcript variant +1 more)	Tay-Sachs disease	GPathogenic/Likely pathogenic
Select item 555956	NM_000520.6(HEXA):c.1511G>T (p.Arg504Leu)	HEXA (R504L +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GConflicting classifications of pathogenicity
Select item 3895	NM_000520.6(HEXA):c.1511G>A (p.Arg504His)	HEXA (R504H +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease +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 551391	NM_000520.6(HEXA):c.1502C>G (p.Ser501Ter)	HEXA (S501* +1 more)	Single nucleotide variant (nonsense +1 more)	Tay-Sachs disease	GLikely 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)	Tay-Sachs disease +2 more	GUncertain significance
Select item 554871	NM_000520.6(HEXA):c.1475A>G (p.Asp492Gly)	HEXA (D492G +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GUncertain significance
Select item 3917	NM_000520.6(HEXA):c.1453T>C (p.Trp485Arg)	HEXA (W485R +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	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 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 555688	NM_000520.6(HEXA):c.1422-1G>T	HEXA	Single nucleotide variant (splice acceptor variant)	Tay-Sachs disease	GPathogenic/Likely pathogenic
Select item 555101	NM_000520.6(HEXA):c.1421+13dup	HEXA	Duplication (intron variant)	Tay-Sachs disease	GBenign/Likely benign
Select item 555082	NM_000520.6(HEXA):c.1421+15G>T	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 552635	NM_000520.6(HEXA):c.1421+15G>C	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GConflicting classifications of pathogenicity
Select item 317041	NM_000520.6(HEXA):c.1421+14G>C	HEXA	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 556602	NM_000520.6(HEXA):c.1421+13G>A	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 556598	NM_000520.6(HEXA):c.1421+11del	HEXA	Deletion (intron variant)	Tay-Sachs disease	GLikely benign
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 371169	NM_000520.6(HEXA):c.1421G>A (p.Trp474Ter)	HEXA (W474* +1 more)	Single nucleotide variant (nonsense +1 more)	Tay-Sachs disease	GPathogenic/Likely pathogenic
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 93190	NM_000520.6(HEXA):c.1397A>G (p.Asn466Ser)	HEXA (N466S +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease +1 more	GConflicting classifications of pathogenicity
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 +2 more	GConflicting classifications of pathogenicity
Select item 555027	NM_000520.6(HEXA):c.1375A>G (p.Met459Val)	HEXA (M459V +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GUncertain significance
Select item 555211	NM_000520.6(HEXA):c.1361G>A (p.Gly454Asp)	HEXA (G454D +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GConflicting classifications of pathogenicity
Select item 3942	NM_000520.6(HEXA):c.1351C>G (p.Leu451Val)	HEXA (L451V +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GUncertain significance
Select item 371490	NM_000520.6(HEXA):c.1330+1G>A	HEXA	Single nucleotide variant (splice donor variant)	Tay-Sachs disease +1 more	GPathogenic
Select item 555015	NM_000520.6(HEXA):c.1319T>C (p.Leu440Pro)	HEXA (L440P +1 more)	Single nucleotide variant (missense variant)	Tay-Sachs disease	GUncertain significance
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)	Inborn genetic diseases +5 more	GPathogenic/Likely pathogenic
Select item 554885	NM_000520.6(HEXA):c.1275A>G (p.Ile425Met)	HEXA (I425M +1 more)	Single nucleotide variant (missense variant)	Tay-Sachs disease	GUncertain significance
Select item 554841	NM_000520.6(HEXA):c.1237C>T (p.Arg413Trp)	HEXA (R413W +1 more)	Single nucleotide variant (missense variant)	Tay-Sachs disease	GUncertain significance
Select item 554847	NM_000520.6(HEXA):c.1231G>A (p.Gly411Ser)	HEXA (G411S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 552258	NM_000520.6(HEXA):c.1214_1219del (p.403_404EL[1])	HEXA	Deletion (inframe_deletion)	Tay-Sachs disease	GUncertain significance
Select item 557877	NM_000520.6(HEXA):c.1214_1215delinsG (p.Glu405fs)	HEXA (E416fs +1 more)	Indel (frameshift variant)	Tay-Sachs disease	GLikely pathogenic
Select item 555043	NM_000520.6(HEXA):c.1189C>T (p.Pro397Ser)	HEXA (P397S +1 more)	Single nucleotide variant (missense variant)	Tay-Sachs disease	GUncertain significance
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 555822	NM_000520.6(HEXA):c.1169_1171delinsT (p.Gln390fs)	HEXA (Q401fs +1 more)	Indel (frameshift variant)	Tay-Sachs disease	GLikely pathogenic
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 370596	NM_000520.6(HEXA):c.1150C>T (p.Gln384Ter)	HEXA (Q384* +1 more)	Single nucleotide variant (nonsense)	Tay-Sachs disease	GLikely pathogenic
Select item 553551	NM_000520.6(HEXA):c.1146+18A>G	HEXA	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 555127	NM_000520.6(HEXA):c.1146+8G>A	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GBenign/Likely benign
Select item 557082	NM_000520.6(HEXA):c.1140del (p.Lys380_Val381insTer)	HEXA	Deletion (frameshift variant)	Tay-Sachs disease	GPathogenic/Likely pathogenic
Select item 189166	NM_000520.6(HEXA):c.1123del (p.Glu375fs)	HEXA (E375fs +1 more)	Deletion (frameshift variant)	Tay-Sachs disease +1 more	GPathogenic/Likely pathogenic
Select item 555055	NM_000520.6(HEXA):c.1103A>G (p.Lys368Arg)	HEXA (K368R +1 more)	Single nucleotide variant (missense variant)	Tay-Sachs disease	GUncertain significance
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 554882	NM_000520.6(HEXA):c.1084A>G (p.Ile362Val)	HEXA (I362V +1 more)	Single nucleotide variant (missense variant)	Tay-Sachs disease +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 438807	NM_000520.6(HEXA):c.1074-86G>A	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 438808	NM_000520.6(HEXA):c.1074-100T>C	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 555452	NM_000520.6(HEXA):c.1073+51G>A	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 555126	NM_000520.6(HEXA):c.1073+41C>T	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GConflicting classifications of pathogenicity
Select item 550303	NM_000520.6(HEXA):c.1073+1G>T	HEXA	Single nucleotide variant (splice donor variant)	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 +1 more	GPathogenic/Likely pathogenic
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 555019	NM_000520.6(HEXA):c.1022A>G (p.Lys341Arg)	HEXA (K341R +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GUncertain significance
Select item 550606	NM_000520.6(HEXA):c.1008G>C (p.Gln336His)	HEXA (Q336H +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GUncertain significance
Select item 554588	NM_000520.6(HEXA):c.1003A>T (p.Ile335Phe)	HEXA (I335F +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GUncertain significance
Select item 188929	NM_000520.6(HEXA):c.986+3A>G	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease +1 more	GPathogenic/Likely pathogenic
Select item 555687	NM_000520.6(HEXA):c.977del (p.Phe326fs)	HEXA (F326fs +1 more)	Deletion (frameshift variant +1 more)	Tay-Sachs disease	GLikely pathogenic
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 188855	NM_000520.6(HEXA):c.947dup (p.Tyr316Ter)	HEXA (Y327* +1 more)	Duplication (nonsense +1 more)	Tay-Sachs disease	GLikely pathogenic
Select item 557782	NM_000520.6(HEXA):c.941A>T (p.Asp314Val)	HEXA (D314V +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GUncertain significance
Select item 188812	NM_000520.6(HEXA):c.912CTT[1] (p.Phe305del)	HEXA (F305del +1 more)	Microsatellite (inframe_deletion +1 more)	Tay-Sachs disease +2 more	GPathogenic/Likely pathogenic
Select item 370974	NM_000520.6(HEXA):c.806-1G>C	HEXA	Single nucleotide variant (splice acceptor variant)	Tay-Sachs disease	GLikely pathogenic
Select item 557210	NM_000520.6(HEXA):c.749G>T (p.Gly250Val)	HEXA (G250V +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GUncertain significance
Select item 381668	NM_000520.6(HEXA):c.748G>A (p.Gly250Ser)	HEXA (G250S +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease +2 more	GConflicting classifications of pathogenicity
Select item 553250	NM_000520.6(HEXA):c.736G>A (p.Ala246Thr)	HEXA (A246T +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease +1 more	GConflicting classifications of pathogenicity
Select item 370659	NM_000520.6(HEXA):c.709C>T (p.Gln237Ter)	HEXA (Q237* +1 more)	Single nucleotide variant (nonsense +1 more)	Tay-Sachs disease +1 more	GPathogenic/Likely pathogenic
Select item 317045	NM_000520.6(HEXA):c.673-13T>C	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease +1 more	GConflicting classifications of pathogenicity
Select item 3928	NM_000520.6(HEXA):c.672+1G>A	HEXA	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely 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 556070	NM_000520.6(HEXA):c.607T>G (p.Trp203Gly)	HEXA (W203G +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GConflicting classifications of pathogenicity
Select item 446383	NM_000520.6(HEXA):c.598G>A (p.Val200Met)	HEXA (V200M +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease +1 more	GUncertain significance
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 458318	NM_000520.6(HEXA):c.581C>T (p.Ala194Val)	HEXA (A194V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 189180	NM_000520.6(HEXA):c.570+1G>A	HEXA	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 557182	NM_000520.6(HEXA):c.551_552del (p.Leu183_Ser184insTer)	HEXA	Microsatellite (nonsense +1 more)	Tay-Sachs disease	GPathogenic/Likely pathogenic
Select item 496012	NM_000520.6(HEXA):c.548T>A (p.Leu183His)	HEXA (L183H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 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)	not provided +1 more	GUncertain significance
Select item 551323	NM_000520.6(HEXA):c.535C>T (p.His179Tyr)	HEXA (H179Y +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GUncertain significance
Select item 421021	NM_000520.6(HEXA):c.530C>G (p.Ser177Cys)	HEXA (S177C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 370895	NM_000520.6(HEXA):c.465del (p.Phe155fs)	HEXA (F166fs +1 more)	Deletion (frameshift variant +1 more)	Tay-Sachs disease	GPathogenic/Likely pathogenic
Select item 558071	NM_000520.6(HEXA):c.459+2dup	HEXA	Duplication (splice donor variant)	Tay-Sachs disease	GLikely pathogenic
Select item 557181	NM_000520.6(HEXA):c.446CTG[1] (p.Ala150del)	HEXA (A150del +1 more)	Microsatellite (inframe_deletion +1 more)	Tay-Sachs disease	GUncertain significance
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 554883	NM_000520.6(HEXA):c.428G>T (p.Ser143Ile)	HEXA (S143I +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GUncertain significance
Select item 554861	NM_000520.6(HEXA):c.388G>C (p.Glu130Gln)	HEXA (E130Q +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GUncertain significance
Select item 317046	NM_000520.6(HEXA):c.346+13C>T	HEXA	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 551190	NM_000520.6(HEXA):c.346+2dup	HEXA	Duplication (splice donor variant)	not provided +1 more	GUncertain significance

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