7957[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	FBXO5, FNDC1 +865 more	Copy number gain	See cases	GPathogenic
Select item 144906	GRCh38/hg38 6q24.2-24.3(chr6:144764447-145609129)x3	EPM2A, LOC123864093 +7 more	Copy number gain	See cases	GUncertain significance
Select item 58452	GRCh38/hg38 6q24.2-25.2(chr6:144932561-152985364)x1	ADGB, ADGB-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 1197768	NM_005670.4(EPM2A):c.*1970T>C	EPM2A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3053538	NM_005670.4(EPM2A):c.*1731G>A	EPM2A	Single nucleotide variant (3 prime UTR variant +1 more)	EPM2A-related condition	GLikely benign
Select item 1198769	NM_005670.4(EPM2A):c.*1688AG[1]	EPM2A	Microsatellite (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 523391	NM_005670.4(EPM2A):c.*1691G>A	EPM2A	Single nucleotide variant (3 prime UTR variant +2 more)	Severe global developmental delay +2 more	GUncertain significance
Select item 1227152	NM_005670.4(EPM2A):c.*1639C>T	EPM2A	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1230296	NM_005670.4(EPM2A):c.*1472G>A	EPM2A	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1216701	NM_005670.4(EPM2A):c.*172A>G	EPM2A	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1290853	NM_005670.4(EPM2A):c.*163T>G	EPM2A	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 2142453	NM_005670.4(EPM2A):c.994_*12del (p.Ter332del)	EPM2A (:332del +2 more)	Deletion (3 prime UTR variant +4 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 205448	NM_005670.4(EPM2A):c.992T>C (p.Leu331Pro)	EPM2A (L331P +2 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1310726	NM_005670.4(EPM2A):c.989G>T (p.Ser330Ile)	EPM2A (S176I +2 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 642472	NM_005670.4(EPM2A):c.986G>A (p.Cys329Tyr)	EPM2A (C175Y +2 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1120811	NM_005670.4(EPM2A):c.984G>T (p.Val328=)	EPM2A	Single nucleotide variant (3 prime UTR variant +3 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1362286	NM_005670.4(EPM2A):c.981T>G (p.Ser327=)	EPM2A	Single nucleotide variant (3 prime UTR variant +3 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 531798	NM_005670.4(EPM2A):c.979T>C (p.Ser327Pro)	EPM2A (S327P +2 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 942867	NM_005670.4(EPM2A):c.977C>T (p.Ser326Phe)	EPM2A (S326F +2 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 462936	NM_005670.4(EPM2A):c.975T>C (p.Arg325=)	EPM2A	Single nucleotide variant (synonymous variant +3 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 205423	NM_005670.4(EPM2A):c.974G>A (p.Arg325His)	EPM2A (R325H +2 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 850428	NM_005670.4(EPM2A):c.973C>T (p.Arg325Cys)	EPM2A (R325C +2 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1424896	NM_005670.4(EPM2A):c.970G>T (p.Val324Phe)	EPM2A (V170F +2 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1449816	NM_005670.4(EPM2A):c.962T>G (p.Phe321Cys)	EPM2A (F183C +2 more)	Single nucleotide variant (missense variant +3 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2414145	NM_005670.4(EPM2A):c.957G>C (p.Gln319His)	EPM2A (Q165H +2 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 3106	NM_005670.4(EPM2A):c.953dup (p.Gln319fs)	EPM2A (Q319fs +2 more)	Duplication (3 prime UTR variant +3 more)	Lafora disease	GPathogenic
Select item 1964135	NM_005670.4(EPM2A):c.942A>G (p.Gln314=)	EPM2A	Single nucleotide variant (3 prime UTR variant +3 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1442322	NM_005670.4(EPM2A):c.937G>A (p.Ala313Thr)	EPM2A (A159T +2 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 715191	NM_005670.4(EPM2A):c.936G>A (p.Arg312=)	EPM2A	Single nucleotide variant (3 prime UTR variant +3 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1519801	NM_005670.4(EPM2A):c.935G>A (p.Arg312Gln)	EPM2A (R312Q +2 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1454028	NM_005670.4(EPM2A):c.934dup (p.Arg312fs)	EPM2A (R158fs +2 more)	Duplication (frameshift variant +3 more)	Progressive myoclonic epilepsy	GPathogenic
Select item 1358980	NM_005670.4(EPM2A):c.934C>T (p.Arg312Trp)	EPM2A (R158W +2 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 669041	NM_005670.4(EPM2A):c.927C>G (p.Ala309=)	EPM2A	Single nucleotide variant (3 prime UTR variant +3 more)	not provided +1 more	GLikely benign
Select item 1079713	NM_005670.4(EPM2A):c.924G>A (p.Glu308=)	EPM2A	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 660962	NM_005670.4(EPM2A):c.919G>A (p.Glu307Lys)	EPM2A (E169K +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 696515	NM_005670.4(EPM2A):c.918C>T (p.Asp306=)	EPM2A	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 425396	NM_005670.4(EPM2A):c.917A>T (p.Asp306Val)	EPM2A (D306V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1966885	NM_005670.4(EPM2A):c.911A>G (p.Tyr304Cys)	EPM2A (Y150C +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 462935	NM_005670.4(EPM2A):c.904G>A (p.Ala302Thr)	EPM2A (A302T +3 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 511983	NM_005670.4(EPM2A):c.903G>A (p.Pro301=)	EPM2A (G221S)	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy +1 more	GLikely benign
Select item 137220	NM_005670.4(EPM2A):c.903G>C (p.Pro301=)	EPM2A (G221R)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 2136481	NM_005670.4(EPM2A):c.902C>T (p.Pro301Leu)	EPM2A (P301L +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1038675	NM_005670.4(EPM2A):c.901C>A (p.Pro301Thr)	EPM2A (A220D +3 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2549892	NM_005670.4(EPM2A):c.896A>C (p.Lys299Thr)	EPM2A (K145T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1129376	NM_005670.4(EPM2A):c.894C>T (p.Ala298=)	EPM2A (Q218*)	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 722187	NM_005670.4(EPM2A):c.888C>G (p.Leu296=)	EPM2A (H216D)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 205434	NM_005670.4(EPM2A):c.878A>T (p.Gln293Leu)	EPM2A (Q293L +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 1581124	NM_005670.4(EPM2A):c.876G>T (p.Val292=)	EPM2A (A212S)	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 391537	NM_005670.4(EPM2A):c.876G>A (p.Val292=)	EPM2A (A212T)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 1714679	NM_005670.4(EPM2A):c.874G>T (p.Val292Leu)	EPM2A (G211V +3 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 387240	NM_005670.4(EPM2A):c.870G>A (p.Arg290=)	EPM2A (E210K)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2734962	NM_005670.4(EPM2A):c.861G>A (p.Trp287Ter)	EPM2A (E207K +3 more)	Single nucleotide variant (nonsense +2 more)	Progressive myoclonic epilepsy	GPathogenic
Select item 137219	NM_005670.4(EPM2A):c.849T>C (p.Tyr283=)	EPM2A (C203R)	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 411296	NM_005670.4(EPM2A):c.848A>G (p.Tyr283Cys)	EPM2A (Y283C +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1310889	NM_005670.4(EPM2A):c.847T>A (p.Tyr283Asn)	EPM2A (V202E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1056605	NM_005670.4(EPM2A):c.845A>G (p.Gln282Arg)	EPM2A (Q128R +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1369000	NM_005670.4(EPM2A):c.841C>T (p.Leu281Phe)	EPM2A (A200V +3 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 834981	NM_005670.4(EPM2A):c.835G>T (p.Gly279Cys)	EPM2A (G279C +3 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy	GPathogenic
Select item 3099	NM_005670.4(EPM2A):c.835G>A (p.Gly279Ser)	EPM2A (G279S +3 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy	GPathogenic
Select item 1139802	NM_005670.4(EPM2A):c.834C>T (p.Cys278=)	EPM2A (R198W)	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 462934	NM_005670.4(EPM2A):c.825G>A (p.Ala275=)	EPM2A (G195S)	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 1034932	NM_005670.4(EPM2A):c.824C>T (p.Ala275Val)	EPM2A (A121V +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 387503	NM_005670.4(EPM2A):c.822C>T (p.Thr274=)	EPM2A (R194C)	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GLikely benign
Select item 205447	NM_005670.4(EPM2A):c.818C>G (p.Ser273Cys)	EPM2A (S273C +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 430074	NM_005670.4(EPM2A):c.815G>A (p.Arg272His)	EPM2A (R272H +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy +2 more	GUncertain significance
Select item 810002	NM_005670.4(EPM2A):c.814C>T (p.Arg272Cys)	EPM2A (R134C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1140517	NM_005670.4(EPM2A):c.813C>T (p.Gly271=)	EPM2A (P191S)	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1086403	NM_005670.4(EPM2A):c.807G>A (p.Gly269=)	EPM2A (G189S)	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 853393	NM_005670.4(EPM2A):c.802G>A (p.Ala268Thr)	EPM2A (A114T +3 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 390520	NM_005670.4(EPM2A):c.801C>T (p.Asn267=)	EPM2A (R187C)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy +1 more	GLikely benign
Select item 1371483	NM_005670.4(EPM2A):c.800A>G (p.Asn267Ser)	EPM2A (N113S +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 861457	NM_005670.4(EPM2A):c.797G>C (p.Cys266Ser)	EPM2A (C266S +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1047431	NM_005670.4(EPM2A):c.794A>G (p.His265Arg)	EPM2A (H111R +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GPathogenic
Select item 2916646	NM_005670.4(EPM2A):c.792G>A (p.Val264=)	EPM2A (A184T)	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1761009	NM_005670.4(EPM2A):c.788_792delinsCCCTTCTGCCCAC (p.Tyr263fs)	EPM2A (R183fs +3 more)	Indel (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 1761008	NM_005670.4(EPM2A):c.788_791dup (p.His265fs)	EPM2A (A184fs +3 more)	Duplication (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 2198488	NM_005670.4(EPM2A):c.790G>A (p.Val264Met)	EPM2A (R183H +3 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2954964	NM_005670.4(EPM2A):c.789C>T (p.Tyr263=)	EPM2A (R183C)	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1878581	NM_005670.4(EPM2A):c.789C>G (p.Tyr263Ter)	EPM2A (R183G +3 more)	Single nucleotide variant (nonsense +2 more)	Lafora disease	GUncertain significance
Select item 1019497	NM_005670.4(EPM2A):c.784G>A (p.Val262Met)	EPM2A (R181H +3 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1760844	NM_005670.4(EPM2A):c.783C>T (p.Ile261=)	EPM2A (R181C)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2909002	NM_005670.4(EPM2A):c.777A>G (p.Gly259=)	EPM2A (T179A)	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 392758	NM_005670.4(EPM2A):c.776G>A (p.Gly259Glu)	EPM2A (G259E +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1086271	NM_005670.4(EPM2A):c.774G>A (p.Lys258=)	EPM2A (G178R)	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 942301	NM_005670.4(EPM2A):c.770A>G (p.Glu257Gly)	EPM2A (E103G +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1529307	NM_005670.4(EPM2A):c.768G>A (p.Leu256=)	EPM2A (G176R)	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1501357	NM_005670.4(EPM2A):c.767T>C (p.Leu256Pro)	EPM2A (L102P +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 137218	NM_005670.4(EPM2A):c.762G>A (p.Ala254=)	EPM2A (A174T)	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 590090	NM_005670.4(EPM2A):c.761C>T (p.Ala254Val)	EPM2A (A254V +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy +2 more	GUncertain significance
Select item 1418032	NM_005670.4(EPM2A):c.759_760insATGCA (p.Ala254fs)	EPM2A (A100fs +3 more)	Insertion (frameshift variant +1 more)	Progressive myoclonic epilepsy	GPathogenic
Select item 1565802	NM_005670.4(EPM2A):c.759T>C (p.His253=)	EPM2A (C173R)	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 429342	NM_005670.4(EPM2A):c.759delinsCATGCA (p.Ala254fs)	EPM2A (A116fs +3 more)	Indel (frameshift variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 1523755	NM_005670.4(EPM2A):c.758A>G (p.His253Arg)	EPM2A (H99R +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 640416	NM_005670.4(EPM2A):c.758A>T (p.His253Leu)	EPM2A (H115L +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1098920	NM_005670.4(EPM2A):c.745G>A (p.Val249Met)	EPM2A (G168D +3 more)	Single nucleotide variant (missense variant +1 more)	Lafora disease	GLikely pathogenic
Select item 462933	NM_005670.4(EPM2A):c.745G>T (p.Val249Leu)	EPM2A (V249L +3 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 383679	NM_005670.4(EPM2A):c.744G>A (p.Ala248=)	EPM2A (G168S)	Single nucleotide variant (synonymous variant +2 more)	EPM2A-related condition +2 more	GLikely benign
Select item 411297	NM_005670.4(EPM2A):c.743C>T (p.Ala248Val)	EPM2A (A248V +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy +3 more	GUncertain significance

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