3073[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 57140	GRCh38/hg38 15q23-24.1(chr15:68830574-73823337)x1	ADPGK, ADPGK-AS1 +197 more	Copy number loss	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	ACSBG1, ADPGK +487 more	Copy number loss	See cases	GPathogenic
Select item 58353	GRCh38/hg38 15q23-24.1(chr15:72058544-72481033)x3	ARIH1, CELF6 +33 more	Copy number gain	See cases	GUncertain significance
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 1049862	NC_000015.10:g.72340843AC[24]	HEXA	Microsatellite	not provided	GUncertain significance
Select item 1049750	NC_000015.10:g.72340843AC[22]	HEXA	Microsatellite	not provided	GUncertain significance
Select item 317032	NM_000520.6(HEXA):c.*630A>G	HEXA	Single nucleotide variant (3 prime UTR variant)	Tay-Sachs disease	GLikely benign
Select item 317033	NM_000520.6(HEXA):c.*589T>G	HEXA	Single nucleotide variant (3 prime UTR variant)	Tay-Sachs disease	GBenign
Select item 317034	NM_000520.6(HEXA):c.*575G>A	HEXA	Single nucleotide variant (3 prime UTR variant)	Tay-Sachs disease +1 more	GUncertain significance
Select item 317035	NM_000520.6(HEXA):c.*515G>A	HEXA	Single nucleotide variant (3 prime UTR variant)	Tay-Sachs disease	GBenign
Select item 317036	NM_000520.6(HEXA):c.*436C>T	HEXA	Single nucleotide variant (3 prime UTR variant)	Tay-Sachs disease	GUncertain significance
Select item 317037	NM_000520.6(HEXA):c.*355C>G	HEXA	Single nucleotide variant (3 prime UTR variant)	Tay-Sachs disease	GUncertain significance
Select item 317038	NM_000520.6(HEXA):c.*200T>C	HEXA	Single nucleotide variant (3 prime UTR variant)	Tay-Sachs disease	GUncertain significance
Select item 317039	NM_000520.6(HEXA):c.*76G>A	HEXA	Single nucleotide variant (3 prime UTR variant)	Tay-Sachs disease	GUncertain significance
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 1919129	NM_000520.6(HEXA):c.1587C>T (p.Thr529=)	HEXA	Single nucleotide variant (synonymous variant)	Tay-Sachs disease	GLikely benign
Select item 1604217	NM_000520.6(HEXA):c.1578T>C (p.Phe526=)	HEXA	Single nucleotide variant (synonymous variant)	Tay-Sachs disease	GLikely benign
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 1985845	NM_000520.6(HEXA):c.1574A>G (p.Glu525Gly)	HEXA (E536G +1 more)	Single nucleotide variant (missense variant)	Tay-Sachs disease	GUncertain significance
Select item 696182	NM_000520.6(HEXA):c.1572G>A (p.Gln524=)	HEXA	Single nucleotide variant (synonymous variant)	Tay-Sachs disease	GLikely benign
Select item 1359380	NM_000520.6(HEXA):c.1571A>C (p.Gln524Pro)	HEXA (Q524P +1 more)	Single nucleotide variant (missense 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 2018082	NM_000520.6(HEXA):c.1563C>T (p.Phe521=)	HEXA	Single nucleotide variant (synonymous variant)	Tay-Sachs disease	GLikely benign
Select item 1775212	NM_000520.6(HEXA):c.1559G>A (p.Gly520Asp)	HEXA (G531D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1118732	NM_000520.6(HEXA):c.1557A>G (p.Val519=)	HEXA	Single nucleotide variant (synonymous variant)	Tay-Sachs disease	GLikely benign
Select item 2419972	NM_000520.6(HEXA):c.1556T>C (p.Val519Ala)	HEXA (V519A +1 more)	Single nucleotide variant (missense variant)	Tay-Sachs disease	GUncertain significance
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 1110941	NM_000520.6(HEXA):c.1554T>C (p.Asn518=)	HEXA	Single nucleotide variant (synonymous variant)	Tay-Sachs disease	GLikely benign
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 807284	NM_000520.6(HEXA):c.1549C>G (p.Leu517Val)	HEXA (L528V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 701158	NM_000520.6(HEXA):c.1548C>T (p.Pro516=)	HEXA	Single nucleotide variant (synonymous variant)	Tay-Sachs disease	GLikely benign
Select item 702875	NM_000520.6(HEXA):c.1545A>G (p.Gln515=)	HEXA	Single nucleotide variant (synonymous variant)	HEXA-related disorder +1 more	GLikely benign
Select item 2137728	NM_000520.6(HEXA):c.1537C>T (p.Gln513Ter)	HEXA (Q513* +1 more)	Single nucleotide variant (nonsense)	Tay-Sachs disease	GPathogenic
Select item 3023149	NM_000520.6(HEXA):c.1536C>G (p.Val512=)	HEXA	Single nucleotide variant (synonymous variant)	Tay-Sachs disease	GLikely benign
Select item 2788035	NM_000520.6(HEXA):c.1533T>G (p.Gly511=)	HEXA	Single nucleotide variant (synonymous variant)	Tay-Sachs disease	GLikely benign
Select item 1146692	NM_000520.6(HEXA):c.1533T>C (p.Gly511=)	HEXA	Single nucleotide variant (synonymous variant)	Tay-Sachs disease	GLikely benign
Select item 2168831	NM_000520.6(HEXA):c.1532G>T (p.Gly511Val)	HEXA (G511V +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 2066553	NM_000520.6(HEXA):c.1527-4G>C	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2032884	NM_000520.6(HEXA):c.1527-4G>A	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
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 1081742	NM_000520.6(HEXA):c.1527-7C>T	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2865040	NM_000520.6(HEXA):c.1527-10C>T	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 1152177	NM_000520.6(HEXA):c.1527-10C>G	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2989651	NM_000520.6(HEXA):c.1527-18C>T	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 1194872	NM_000520.6(HEXA):c.1526+325dup	HEXA	Duplication (intron variant)	not provided	GLikely benign
Select item 1248680	NM_000520.6(HEXA):c.1526+188G>A	HEXA	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 673944	NM_000520.6(HEXA):c.1526+79A>G	HEXA	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
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 2781584	NM_000520.6(HEXA):c.1526+20T>G	HEXA	Single nucleotide variant (non-coding transcript variant +1 more)	Tay-Sachs disease	GLikely benign
Select item 2814391	NM_000520.6(HEXA):c.1526+14G>A	HEXA	Single nucleotide variant (non-coding transcript variant +1 more)	Tay-Sachs disease	GLikely benign
Select item 1561718	NM_000520.6(HEXA):c.1526+13T>C	HEXA	Single nucleotide variant (non-coding transcript variant +1 more)	Tay-Sachs disease	GLikely benign
Select item 1582924	NM_000520.6(HEXA):c.1526+12G>A	HEXA	Single nucleotide variant (intron variant +1 more)	Tay-Sachs disease	GLikely benign
Select item 1148472	NM_000520.6(HEXA):c.1526+7_1526+10del	HEXA	Microsatellite (non-coding transcript variant +1 more)	Tay-Sachs disease	GLikely benign
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 1985481	NM_000520.6(HEXA):c.1526+1G>A	HEXA	Single nucleotide variant (non-coding transcript variant +1 more)	Tay-Sachs disease	GPathogenic
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 417379	NC_000015.10:g.(?_72345446)_(72346710_?)del	HEXA	Deletion	Tay-Sachs disease	GLikely pathogenic
Select item 1666925	NM_000520.6(HEXA):c.1524G>A (p.Leu508=)	HEXA	Single nucleotide variant (non-coding transcript variant +1 more)	Tay-Sachs disease	GLikely benign
Select item 1976447	NM_000520.6(HEXA):c.1521G>A (p.Leu507=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease	GLikely benign
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 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)	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 3894	NM_000520.6(HEXA):c.1510del (p.Arg504fs)	HEXA (R504fs +1 more)	Deletion (frameshift variant +1 more)	Tay-Sachs disease	GPathogenic
Select item 2097536	NM_000520.6(HEXA):c.1509C>G (p.Phe503Leu)	HEXA (F514L +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GUncertain significance
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 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)	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 2010517	NM_000520.6(HEXA):c.1491T>G (p.Tyr497Ter)	HEXA (Y497* +1 more)	Single nucleotide variant (nonsense +1 more)	Tay-Sachs disease	GPathogenic
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 2168839	NM_000520.6(HEXA):c.1488C>G (p.Ala496=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease	GUncertain significance
Select item 2139666	NM_000520.6(HEXA):c.1487C>G (p.Ala496Gly)	HEXA (A496G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1480607	NM_000520.6(HEXA):c.1481C>G (p.Thr494Arg)	HEXA (T494R +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GUncertain significance
Select item 3065512	NM_000520.6(HEXA):c.1478T>C (p.Leu493Pro)	HEXA (L493P +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	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 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 2168841	NM_000520.6(HEXA):c.1474G>C (p.Asp492His)	HEXA (D492H +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GUncertain significance
Select item 2900361	NM_000520.6(HEXA):c.1473T>G (p.Ser491=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease	GLikely benign
Select item 1773339	NM_000520.6(HEXA):c.1470A>G (p.Thr490=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease +1 more	GLikely benign
Select item 2154726	NM_000520.6(HEXA):c.1469C>T (p.Thr490Ile)	HEXA (T501I +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GUncertain significance
Select item 2121072	NM_000520.6(HEXA):c.1467G>C (p.Leu489Phe)	HEXA (L489F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Tay-Sachs disease	GUncertain significance
Select item 1366981	NM_000520.6(HEXA):c.1457G>A (p.Ser486Asn)	HEXA (S486N +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GUncertain significance
Select item 1451990	NM_000520.6(HEXA):c.1455G>A (p.Trp485Ter)	HEXA (W485* +1 more)	Single nucleotide variant (nonsense +1 more)	Tay-Sachs disease	GPathogenic
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 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 2725071	NM_000520.6(HEXA):c.1452G>A (p.Leu484=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease	GLikely benign
Select item 1332717	NM_000520.6(HEXA):c.1429_1445del (p.Ala477fs)	HEXA (A477fs +1 more)	Deletion (frameshift variant +1 more)	Tay-Sachs disease	GPathogenic
Select item 918075	NM_000520.6(HEXA):c.1444G>T (p.Glu482Ter)	HEXA (E482* +1 more)	Single nucleotide variant (nonsense +1 more)	Tay-Sachs disease	GPathogenic
Select item 3892	NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys)	HEXA (E482K +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease +2 more	GPathogenic/Likely pathogenic
Select item 697761	NM_000520.6(HEXA):c.1443C>T (p.Ala481=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease	GLikely benign
Select item 3284143	NM_000520.6(HEXA):c.1442C>T (p.Ala481Val)	HEXA (A492V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2418401	NM_000520.6(HEXA):c.1439T>C (p.Val480Ala)	HEXA (V480A +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GUncertain significance
Select item 1420802	NM_000520.6(HEXA):c.1438G>A (p.Val480Ile)	HEXA (V480I +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GUncertain significance
Select item 1534580	NM_000520.6(HEXA):c.1437T>C (p.Ala479=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease	GLikely benign
Select item 2076566	NM_000520.6(HEXA):c.1435G>C (p.Ala479Pro)	HEXA (A479P +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GUncertain significance

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