ClinVar (all) for Orgtrack (Select 500316) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Orgtrack

Items: 1 to 100 of 334

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 162429	NM_000021.4(PSEN1):c.869-1624_956-2453del	PSEN1	Deletion (splice acceptor variant +1 more)	not provided	Gnot provided
Select item 162428	NM_000021.4(PSEN1):c.869-2000_956-1526del	PSEN1	Deletion (splice acceptor variant +1 more)	not provided	Gnot provided
Select item 98248	NM_002087.4(GRN):c.234_235del (p.Gly79fs)	GRN (G79fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GPathogenic
Select item 98247	NM_002087.4(GRN):c.1095_1096del (p.Pro365_Cys366insTer)	GRN	Deletion (frameshift variant)	not provided	Gnot provided
Select item 98246	NM_002087.4(GRN):c.675_676del (p.Ser226fs)	GRN (S226fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 11 +2 more	GPathogenic
Select item 98245	NM_002087.4(GRN):c.380_381del (p.Pro127fs)	GRN (P127fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 98244	NM_001377265.1(MAPT):c.830C>T (p.Pro277Leu)	MAPT (P202L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 98243	NM_001377265.1(MAPT):c.2060ATA[1] (p.Asn688del)	MAPT (N613del +5 more)	Microsatellite (inframe_deletion +1 more)	not provided	GPathogenic
Select item 98242	NM_000484.4(APP):c.2172G>C (p.Lys724Asn)	APP (K724N +9 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98241	NM_000484.4(APP):c.2168T>C (p.Leu723Pro)	APP (L723P +9 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98240	NM_000484.4(APP):c.2147T>C (p.Ile716Thr)	APP (I716T +9 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GPathogenic
Select item 98239	NM_000484.4(APP):c.2145G>A (p.Val715=)	APP	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98238	NM_000484.4(APP):c.2144T>C (p.Val715Ala)	APP (V715A +9 more)	Single nucleotide variant (missense variant)	APP-related disorder	GPathogenic
Select item 98237	NM_000484.4(APP):c.2138C>T (p.Ala713Val)	APP (A713V +9 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 98236	NM_000484.4(APP):c.2032G>A (p.Asp678Asn)	APP (D678N +9 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98235	NM_000484.4(APP):c.2030A>G (p.His677Arg)	APP (H677R +9 more)	Single nucleotide variant (missense variant)	APP-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 98234	NM_001377265.1(MAPT):c.2456C>T (p.Thr819Met)	MAPT (T744M +9 more)	Single nucleotide variant (missense variant +2 more)	Frontotemporal dementia	GUncertain significance
Select item 98233	NM_001377265.1(MAPT):c.2446C>A (p.Gln816Lys)	MAPT (Q741K +9 more)	Single nucleotide variant (missense variant +2 more)	Frontotemporal dementia	GUncertain significance
Select item 98232	NM_001377265.1(MAPT):c.2341G>C (p.Gly781Arg)	MAPT (G706R +9 more)	Single nucleotide variant (missense variant +2 more)	not provided	Gnot provided
Select item 98231	NM_001377265.1(MAPT):c.2263G>A (p.Val755Ile)	MAPT (V680I +9 more)	Single nucleotide variant (missense variant +2 more)	Frontotemporal dementia +1 more	GPathogenic/Likely pathogenic
Select item 98230	NM_001377265.1(MAPT):c.2183A>G (p.Gln728Arg)	MAPT (Q653R +9 more)	Single nucleotide variant (missense variant +2 more)	not provided	Gnot provided
Select item 98229	NM_001377265.1(MAPT):c.2180G>T (p.Gly727Val)	MAPT (G652V +9 more)	Single nucleotide variant (missense variant +2 more)	not provided	Gnot provided
Select item 98228	NM_001377265.1(MAPT):c.2179G>A (p.Gly727Ser)	MAPT (G652S +9 more)	Single nucleotide variant (missense variant +2 more)	Frontotemporal dementia	GLikely pathogenic
Select item 98227	NM_001377265.1(MAPT):c.2121G>A (p.Leu707=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	not provided	Gnot provided
Select item 98226	NM_001377265.1(MAPT):c.2120T>G (p.Leu707Arg)	MAPT (L632R +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 98225	NM_001377265.1(MAPT):c.2091+29G>A	MAPT	Single nucleotide variant (intron variant)	Frontotemporal dementia +2 more	GBenign/Likely benign
Select item 98224	NM_001377265.1(MAPT):c.2091+25C>T	MAPT	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 98223	NM_001377265.1(MAPT):c.2091+19C>G	MAPT	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 98222	NM_001377265.1(MAPT):c.2091+16C>T	MAPT	Single nucleotide variant (intron variant)	not provided +5 more	GPathogenic
Select item 98221	NM_001377265.1(MAPT):c.2091+13A>G	MAPT	Single nucleotide variant (intron variant)	Frontotemporal dementia	GPathogenic
Select item 98220	NM_001377265.1(MAPT):c.2091+12C>T	MAPT	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 98219	NM_001377265.1(MAPT):c.2091+11T>C	MAPT	Single nucleotide variant (intron variant)	Frontotemporal dementia	GPathogenic
Select item 98218	NM_001377265.1(MAPT):c.2091+3G>A	MAPT	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 98217	NM_001377265.1(MAPT):c.2091T>C (p.Ser697=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia	GPathogenic/Likely pathogenic
Select item 98216	NM_001377265.1(MAPT):c.2079G>A (p.Pro693=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	MAPT-Related Spectrum Disorders +1 more	GLikely benign
Select item 98215	NM_001377265.1(MAPT):c.2062A>C (p.Asn688His)	MAPT (N613H +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 98214	NM_001377265.1(MAPT):c.2028T>C (p.Leu676=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	not provided	Gnot provided
Select item 98213	NM_001377265.1(MAPT):c.2014AAG[1] (p.Lys673del)	MAPT (K598del +5 more)	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 98212	NM_001377265.1(MAPT):c.1999-10G>T	MAPT	Single nucleotide variant (intron variant)	Frontotemporal dementia +1 more	GPathogenic
Select item 98211	NM_001377265.1(MAPT):c.1986G>A (p.Pro662=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	MAPT-Related Spectrum Disorders +3 more	GBenign
Select item 98210	NM_001377265.1(MAPT):c.1954A>G (p.Ile652Val)	MAPT (I577V +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 98209	NM_001377265.1(MAPT):c.1941T>C (p.Asn647=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 98208	NM_001377265.1(MAPT):c.1891G>A (p.Ala631Thr)	MAPT (A556T +6 more)	Single nucleotide variant (missense variant +1 more)	Progressive supranuclear palsy-parkinsonism syndrome +3 more	GConflicting classifications of pathogenicity
Select item 98207	NM_001377265.1(MAPT):c.1857A>G (p.Ala619=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	MAPT-Related Spectrum Disorders +3 more	GBenign
Select item 98206	NM_001377265.1(MAPT):c.1732+2342T>C	MAPT	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 98205	NM_001377265.1(MAPT):c.1708G>A (p.Ala570Thr)	MAPT (A495T +5 more)	Single nucleotide variant (missense variant)	MAPT-Related Spectrum Disorders +3 more	GBenign
Select item 98204	NM_001377265.1(MAPT):c.1704G>A (p.Pro568=)	MAPT	Single nucleotide variant (synonymous variant)	MAPT-Related Spectrum Disorders +3 more	GBenign
Select item 98203	NM_001377265.1(MAPT):c.1564T>C (p.Ser522Pro)	MAPT (S447P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 98202	NM_001377265.1(MAPT):c.1546T>C (p.Tyr516His)	MAPT (Y441H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 98201	NM_001377265.1(MAPT):c.1332C>T (p.Ser444=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	not provided	Gnot provided
Select item 98200	NM_001377265.1(MAPT):c.1091T>C (p.Val364Ala)	MAPT (V289A +1 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia +2 more	GBenign
Select item 98199	NM_001377265.1(MAPT):c.1080C>T (p.Asp360=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 98198	NM_001377265.1(MAPT):c.1078G>A (p.Asp360Asn)	MAPT (D285N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 98197	NM_001377265.1(MAPT):c.914A>G (p.Gln305Arg)	MAPT (Q230R +1 more)	Single nucleotide variant (missense variant +1 more)	Parkinson disease, late-onset +6 more	GBenign/Likely benign
Select item 98196	NM_001377265.1(MAPT):c.220+2475G>A	MAPT (G86S)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 98195	NM_001377265.1(MAPT):c.117G>A (p.Thr39=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 98194	NM_001377265.1(MAPT):c.54C>T (p.Tyr18=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia +1 more	GLikely benign
Select item 98193	NM_002087.4(GRN):c.1695C>T (p.Cys565=)	GRN	Single nucleotide variant (synonymous variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GLikely benign
Select item 98192	NM_002087.4(GRN):c.1666C>T (p.Arg556Cys)	GRN (R556C)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98191	NM_002087.4(GRN):c.1648G>A (p.Val550Ile)	GRN (V550I)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GUncertain significance
Select item 98190	NM_002087.4(GRN):c.1623G>C (p.Trp541Cys)	GRN (W541C)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98189	NM_002087.4(GRN):c.1544G>C (p.Gly515Ala)	GRN (G515A)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +3 more	GBenign/Likely benign
Select item 98188	NM_002087.4(GRN):c.1485C>T (p.Cys495=)	GRN	Single nucleotide variant (synonymous variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GLikely benign
Select item 98187	NM_002087.4(GRN):c.1425C>T (p.Cys475=)	GRN	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 11 +2 more	GLikely benign
Select item 98186	NM_002087.4(GRN):c.1422C>T (p.Cys474=)	GRN	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98185	NM_002087.4(GRN):c.1409C>T (p.Pro470Leu)	GRN (P470L)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GUncertain significance
Select item 98184	NM_002087.4(GRN):c.1402C>T (p.Gln468Ter)	GRN (Q468*)	Single nucleotide variant (nonsense)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	GPathogenic
Select item 98183	NM_002087.4(GRN):c.1395dup (p.Cys466fs)	GRN (C466fs)	Duplication (frameshift variant)	not provided	Gnot provided
Select item 98182	NM_002087.4(GRN):c.1373C>T (p.Pro458Leu)	GRN (P458L)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +2 more	GUncertain significance
Select item 98181	NM_002087.4(GRN):c.1341C>T (p.His447=)	GRN	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 11 +2 more	GConflicting classifications of pathogenicity
Select item 98180	NM_002087.4(GRN):c.1297C>T (p.Arg433Trp)	GRN (R433W)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +3 more	GBenign/Likely benign
Select item 98179	NM_002087.4(GRN):c.1294C>T (p.Arg432Cys)	GRN (R432C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 98178	NM_002087.4(GRN):c.1253G>A (p.Arg418Gln)	GRN (R418Q)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +4 more	GConflicting classifications of pathogenicity
Select item 98177	NM_002087.4(GRN):c.1252C>T (p.Arg418Ter)	GRN (R418*)	Single nucleotide variant (nonsense)	Amyotrophic lateral sclerosis type 10 +3 more	GPathogenic
Select item 98176	NM_002087.4(GRN):c.1241G>T (p.Gly414Val)	GRN (G414V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 98175	NM_002087.4(GRN):c.1231_1232dup (p.Val411_Ala412insTer)	GRN	Microsatellite (frameshift variant)	not provided	Gnot provided
Select item 98174	NM_002087.4(GRN):c.1231_1232del (p.Val411fs)	GRN (V411fs)	Microsatellite (frameshift variant)	not provided	Gnot provided
Select item 98173	NM_002087.4(GRN):c.1201C>T (p.Gln401Ter)	GRN (Q401*)	Single nucleotide variant (nonsense)	not provided	Gnot provided
Select item 98172	NM_002087.4(GRN):c.1176A>C (p.Pro392=)	GRN	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98171	NM_002087.4(GRN):c.1157G>A (p.Trp386Ter)	GRN (W386*)	Single nucleotide variant (nonsense)	not provided	Gnot provided
Select item 98170	NM_002087.4(GRN):c.1145del (p.Thr382fs)	GRN (T382fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 98169	NM_002087.3(GRN):c.1144dup (p.Thr382Asnfs)	GRN (T382fs)	Duplication (frameshift variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GPathogenic
Select item 98168	NM_002087.4(GRN):c.1009C>T (p.Gln337Ter)	GRN (Q337*)	Single nucleotide variant (nonsense)	not provided	Gnot provided
Select item 98167	NM_002087.4(GRN):c.998del (p.Gly333fs)	GRN (G333fs)	Deletion (frameshift variant)	Primary progressive aphasia	GPathogenic
Select item 98166	NM_002087.4(GRN):c.996G>A (p.Lys332=)	GRN	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98165	NM_002087.4(GRN):c.970G>A (p.Ala324Thr)	GRN (A324T)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +3 more	GConflicting classifications of pathogenicity
Select item 98164	NM_002087.4(GRN):c.942C>A (p.Cys314Ter)	GRN (C314*)	Single nucleotide variant (nonsense)	not provided	Gnot provided
Select item 98163	NM_002087.4(GRN):c.933+1G>A	GRN	Single nucleotide variant (splice donor variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GLikely pathogenic
Select item 98162	NM_002087.4(GRN):c.911G>A (p.Trp304Ter)	GRN (W304*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 98161	NM_002087.4(GRN):c.910_911insTG (p.Trp304fs)	GRN (W304fs)	Insertion (frameshift variant)	not provided	Gnot provided
Select item 98160	NM_002087.4(GRN):c.909del (p.Trp304fs)	GRN (W304fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 98159	NM_002087.4(GRN):c.903G>A (p.Ser301=)	GRN	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 11 +4 more	GBenign/Likely benign
Select item 98158	NM_002087.4(GRN):c.861G>C (p.Glu287Asp)	GRN (E287D)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GUncertain significance
Select item 98157	NM_002087.4(GRN):c.836-1G>C	GRN	Single nucleotide variant (splice acceptor variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GPathogenic
Select item 98156	NM_002087.4(GRN):c.835_835+1insCTGA	GRN	Insertion (splice donor variant)	not provided	Gnot provided
Select item 98155	NM_002087.4(GRN):c.804G>A (p.Thr268=)	GRN	Single nucleotide variant (synonymous variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GLikely benign
Select item 98154	NM_002087.4(GRN):c.781C>A (p.Leu261Ile)	GRN (L261I)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98153	NM_002087.4(GRN):c.773G>A (p.Ser258Asn)	GRN (S258N)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GUncertain significance
Select item 98152	NM_002087.4(GRN):c.759_760del (p.Cys253_Asp254delinsTer)	GRN	Microsatellite (nonsense)	Frontotemporal dementia +1 more	GPathogenic
Select item 98151	NM_002087.4(GRN):c.743C>T (p.Pro248Leu)	GRN, LOC125177489 (P248L)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GUncertain significance

<< First< Prev

Page of 4