MAPT[gene] and "single gene"[properties] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 501

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1259075	NM_001377265.1(MAPT):c.-17-322C>T	MAPT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296619	NM_001377265.1(MAPT):c.-17-277A>G	MAPT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191111	NM_001377265.1(MAPT):c.-17-215C>T	MAPT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242653	NM_001377265.1(MAPT):c.-17-171G>T	MAPT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257501	NM_001377265.1(MAPT):c.-13A>G	MAPT	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 2191596	NM_001377265.1(MAPT):c.4G>T (p.Ala2Ser)	MAPT (A2S)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia	GUncertain significance
Select item 1345546	NM_001377265.1(MAPT):c.10C>A (p.Pro4Thr)	MAPT (P4T)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia +4 more	GUncertain significance
Select item 889714	NM_001377265.1(MAPT):c.13C>T (p.Arg5Cys)	MAPT (R5C)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia +1 more	GConflicting classifications of pathogenicity
Select item 14263	NM_001377265.1(MAPT):c.14G>T (p.Arg5Leu)	MAPT (R5L)	Single nucleotide variant (missense variant +1 more)	Supranuclear palsy, progressive, 1	GPathogenic
Select item 14261	NM_001377265.1(MAPT):c.14G>A (p.Arg5His)	MAPT (R5H)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia +2 more	GConflicting classifications of pathogenicity
Select item 1596035	NM_001377265.1(MAPT):c.18G>A (p.Gln6=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia	GLikely benign
Select item 1335279	NM_001377265.1(MAPT):c.25G>A (p.Glu9Lys)	MAPT (E9K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2079984	NM_001377265.1(MAPT):c.31A>C (p.Met11Leu)	MAPT (M11L)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia	GUncertain significance
Select item 1661803	NM_001377265.1(MAPT):c.36A>G (p.Glu12=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia	GLikely benign
Select item 2420468	NM_001377265.1(MAPT):c.39T>C (p.Asp13=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia	GLikely benign
Select item 1589624	NM_001377265.1(MAPT):c.42C>T (p.His14=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia	GLikely benign
Select item 548576	NM_001377265.1(MAPT):c.47G>T (p.Gly16Val)	MAPT (G16V)	Single nucleotide variant (missense variant +1 more)	Pick disease +3 more	GUncertain significance
Select item 704535	NM_001377265.1(MAPT):c.50C>T (p.Thr17Met)	MAPT (T17M)	Single nucleotide variant (missense 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 3123393	NM_001377265.1(MAPT):c.55G>A (p.Gly19Arg)	MAPT (G19R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2769979	NM_001377265.1(MAPT):c.58T>C (p.Leu20=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia	GLikely benign
Select item 1368749	NM_001377265.1(MAPT):c.60G>C (p.Leu20Phe)	MAPT (L20F)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia	GUncertain significance
Select item 663933	NM_001377265.1(MAPT):c.62G>T (p.Gly21Val)	MAPT (G21V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2578790	NM_001377265.1(MAPT):c.63G>A (p.Gly21=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 161704	NM_001377265.1(MAPT):c.69G>C (p.Arg23Ser)	MAPT (R23S)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 1424259	NM_001377265.1(MAPT):c.80G>A (p.Gly27Glu)	MAPT (G27E)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia +1 more	GConflicting classifications of pathogenicity
Select item 1717262	NM_001377265.1(MAPT):c.89_90delinsAA (p.Thr30Lys)	MAPT (T30K)	Indel (missense variant +1 more)	Frontotemporal dementia	GUncertain significance
Select item 956359	NM_001377265.1(MAPT):c.89C>T (p.Thr30Ile)	MAPT (T30I)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia +4 more	GUncertain significance
Select item 712132	NM_001377265.1(MAPT):c.90C>A (p.Thr30=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 161703	NM_001377265.1(MAPT):c.100G>T (p.Asp34Tyr)	MAPT (D34Y)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 1302562	NM_001377265.1(MAPT):c.110G>T (p.Gly37Val)	MAPT (G37V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 695504	NM_001377265.1(MAPT):c.120C>T (p.Asp40=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia +1 more	GBenign/Likely benign
Select item 1442775	NM_001377265.1(MAPT):c.121G>A (p.Ala41Thr)	MAPT (A41T)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia	GUncertain significance
Select item 2842583	NM_001377265.1(MAPT):c.133+7G>A	MAPT	Single nucleotide variant (intron variant)	Frontotemporal dementia	GLikely benign
Select item 2445689	NM_001377265.1(MAPT):c.133+16T>C	MAPT	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1267707	NM_001377265.1(MAPT):c.133+284C>T	MAPT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266638	NM_001377265.1(MAPT):c.134-290_134-289insACCA	MAPT	Insertion (intron variant)	not provided	GBenign
Select item 1263140	NM_001377265.1(MAPT):c.134-287del	MAPT	Deletion (intron variant)	not provided	GBenign
Select item 1230922	NM_001377265.1(MAPT):c.134-284_134-281del	MAPT	Deletion (intron variant)	not provided	GBenign
Select item 1250153	NM_001377265.1(MAPT):c.134-92T>C	MAPT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3011213	NM_001377265.1(MAPT):c.134-20G>C	MAPT	Single nucleotide variant (intron variant)	Frontotemporal dementia	GLikely benign
Select item 2704658	NM_001377265.1(MAPT):c.134A>T (p.Glu45Val)	MAPT (E45V)	Single nucleotide variant (missense variant +2 more)	Frontotemporal dementia	GUncertain significance
Select item 3348389	NM_001377265.1(MAPT):c.149C>T (p.Thr50Ile)	MAPT (T50I)	Single nucleotide variant (missense variant +2 more)	MAPT-related disorder	GUncertain significance
Select item 2647851	NM_001377265.1(MAPT):c.150C>T (p.Thr50=)	MAPT	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2728605	NM_001377265.1(MAPT):c.153C>A (p.Pro51=)	MAPT	Single nucleotide variant (synonymous variant +2 more)	Frontotemporal dementia	GLikely benign
Select item 2988430	NM_001377265.1(MAPT):c.159G>C (p.Glu53Asp)	MAPT (E53D)	Single nucleotide variant (missense variant +2 more)	Frontotemporal dementia	GUncertain significance
Select item 889715	NM_001377265.1(MAPT):c.162C>T (p.Asp54=)	MAPT	Single nucleotide variant (synonymous variant +2 more)	MAPT-Related Spectrum Disorders	GUncertain significance
Select item 1169744	NM_001377265.1(MAPT):c.176C>T (p.Pro59Leu)	MAPT (P59L)	Single nucleotide variant (missense variant +2 more)	Frontotemporal dementia +1 more	GBenign
Select item 1647872	NM_001377265.1(MAPT):c.177G>A (p.Pro59=)	MAPT	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1158143	NM_001377265.1(MAPT):c.177G>C (p.Pro59=)	MAPT	Single nucleotide variant (synonymous variant +2 more)	Frontotemporal dementia	GLikely benign
Select item 2628522	NM_001377265.1(MAPT):c.205A>G (p.Thr69Ala)	MAPT (T69A)	Single nucleotide variant (missense variant +2 more)	MAPT-related disorder	GUncertain significance
Select item 1945687	NM_001377265.1(MAPT):c.216G>A (p.Ala72=)	MAPT	Single nucleotide variant (synonymous variant +2 more)	Frontotemporal dementia	GLikely benign
Select item 2829189	NM_001377265.1(MAPT):c.220+5del	MAPT	Deletion (intron variant)	Frontotemporal dementia	GUncertain significance
Select item 257503	NM_001377265.1(MAPT):c.220+18C>T	MAPT	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1224063	NM_001377265.1(MAPT):c.220+239G>A	MAPT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190317	NM_001377265.1(MAPT):c.220+2202G>A	MAPT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293130	NM_001377265.1(MAPT):c.220+2277C>G	MAPT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282324	NM_001377265.1(MAPT):c.220+2278T>G	MAPT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270290	NM_001377265.1(MAPT):c.220+2301A>G	MAPT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210047	NM_001377265.1(MAPT):c.220+2432G>A	MAPT	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 323642	NM_001377265.1(MAPT):c.220+2450A>G	MAPT	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia +1 more	GLikely benign
Select item 1470111	NM_001377265.1(MAPT):c.220+2451C>G	MAPT (P78A)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia	GUncertain significance
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 2780680	NM_001377265.1(MAPT):c.220+2477C>A	MAPT	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia	GLikely benign
Select item 1209982	NM_001377265.1(MAPT):c.220+2477C>G	MAPT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1582142	NM_001377265.1(MAPT):c.220+2480G>A	MAPT	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia	GLikely benign
Select item 3029792	NM_001377265.1(MAPT):c.220+2483G>T	MAPT (Q88H)	Single nucleotide variant (missense variant +1 more)	MAPT-related disorder	GUncertain significance
Select item 662109	NM_001377265.1(MAPT):c.220+2490G>A	MAPT (A91T)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia	GUncertain significance
Select item 460292	NM_001377265.1(MAPT):c.220+2491C>T	MAPT (A91V)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia	GUncertain significance
Select item 648859	NM_001377265.1(MAPT):c.220+2503C>T	MAPT (T95M)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia +2 more	GConflicting classifications of pathogenicity
Select item 1965556	NM_001377265.1(MAPT):c.220+2531G>A	MAPT	Single nucleotide variant (intron variant)	Frontotemporal dementia	GUncertain significance
Select item 257504	NM_001377265.1(MAPT):c.220+2535A>G	MAPT	Single nucleotide variant (intron variant)	Frontotemporal dementia +7 more	GBenign
Select item 323643	NM_001377265.1(MAPT):c.220+2538C>G	MAPT	Single nucleotide variant (intron variant)	MAPT-Related Spectrum Disorders +1 more	GConflicting classifications of pathogenicity
Select item 1222027	NM_001377265.1(MAPT):c.220+2613G>A	MAPT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272983	NM_001377265.1(MAPT):c.220+2698T>C	MAPT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270750	NM_001377265.1(MAPT):c.221-103T>A	MAPT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183434	NM_001377265.1(MAPT):c.221-94A>T	MAPT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 323644	NM_001377265.1(MAPT):c.221C>G (p.Ala74Gly)	MAPT (A103G +2 more)	Single nucleotide variant (missense variant +1 more)	MAPT-Related Spectrum Disorders	GUncertain significance
Select item 1365252	NM_001377265.1(MAPT):c.232G>A (p.Gly78Ser)	MAPT (G78S +2 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia	GUncertain significance
Select item 1521521	NM_001377265.1(MAPT):c.233G>A (p.Gly78Asp)	MAPT (G107D +2 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia	GUncertain significance
Select item 447706	NM_001377265.1(MAPT):c.233G>T (p.Gly78Val)	MAPT (G107V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1432263	NM_001377265.1(MAPT):c.235A>G (p.Ile79Val)	MAPT (I108V +2 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia	GUncertain significance
Select item 3040461	NM_001377265.1(MAPT):c.236T>A (p.Ile79Asn)	MAPT (I108N +2 more)	Single nucleotide variant (missense variant +1 more)	MAPT-related disorder	GUncertain significance
Select item 1714733	NM_001377265.1(MAPT):c.251G>C (p.Ser84Thr)	MAPT (S113T +2 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia	GUncertain significance
Select item 1061335	NM_001377265.1(MAPT):c.258A>C (p.Glu86Asp)	MAPT (E115D +2 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia	GUncertain significance
Select item 706165	NM_001377265.1(MAPT):c.261C>T (p.Asp87=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia	GLikely benign
Select item 852322	NM_001377265.1(MAPT):c.262G>A (p.Glu88Lys)	MAPT (E117K +2 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia	GUncertain significance
Select item 1515029	NM_001377265.1(MAPT):c.266C>G (p.Ala89Gly)	MAPT (A60G +2 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia	GUncertain significance
Select item 1657578	NM_001377265.1(MAPT):c.273T>C (p.Gly91=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia	GLikely benign
Select item 1261272	NM_001377265.1(MAPT):c.286+291C>G	MAPT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256742	NM_001377265.1(MAPT):c.303G>A (p.Pro101=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1200135	NM_001377265.1(MAPT):c.427G>T (p.Ala143Ser)	MAPT (A143S)	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 3067576	NM_001377265.1(MAPT):c.438G>A (p.Pro146=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2647852	NM_001377265.1(MAPT):c.444C>T (p.Thr148=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1209432	NM_001377265.1(MAPT):c.464G>A (p.Arg155His)	MAPT (R155H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1295309	NM_001377265.1(MAPT):c.547G>A (p.Glu183Lys)	MAPT (E183K)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 774042	NM_001377265.1(MAPT):c.601C>T (p.Pro201Ser)	MAPT (P126S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2636069	NM_001377265.1(MAPT):c.619G>A (p.Val207Ile)	MAPT (V132I +1 more)	Single nucleotide variant (missense variant +1 more)	MAPT-related disorder	GUncertain significance
Select item 665115	NM_001377265.1(MAPT):c.630_640del (p.Phe211fs)	MAPT (F136fs +1 more)	Deletion (frameshift variant +1 more)	Frontotemporal dementia	GUncertain significance

<< First< Prev

Page of 6