ClinVar for Gene (Select 4137) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 631

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3171189	NM_001007532.3(STH):c.63G>T (p.Trp21Cys)	MAPT, STH (W21C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171188	NM_001007532.3(STH):c.355G>C (p.Gly119Arg)	MAPT, STH (G119R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123394	NM_001377265.1(MAPT):c.1751G>T (p.Gly584Val)	MAPT (G584V +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3123392	NM_001377265.1(MAPT):c.2269G>A (p.Gly757Ser)	MAPT (G365S +9 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3075676	NM_001377265.1(MAPT):c.2077C>G (p.Pro693Ala)	MAPT (P243A +5 more)	Single nucleotide variant (missense variant +1 more)	Supranuclear palsy, progressive, 1	GLikely pathogenic
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 3063483	GRCh37/hg19 17q21.31(chr17:43459741-44292742)x1	ARHGAP27, SPPL2C +5 more	Copy number loss	not specified	GPathogenic
Select item 3050374	NM_001377265.1(MAPT):c.1998+41G>A	MAPT	Single nucleotide variant (intron variant)	MAPT-related disorder	GLikely benign
Select item 3047169	NM_001377265.1(MAPT):c.957G>A (p.Arg319=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	MAPT-related disorder	GLikely benign
Select item 3042522	NM_001377265.1(MAPT):c.1179G>T (p.Ser393=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	MAPT-related disorder	GLikely benign
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 3040091	NM_001377265.1(MAPT):c.1971C>T (p.Asn657=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	MAPT-related disorder	GLikely benign
Select item 3036594	NM_001377265.1(MAPT):c.770G>A (p.Arg257His)	MAPT (R182H +1 more)	Single nucleotide variant (missense variant +1 more)	MAPT-related disorder	GUncertain significance
Select item 3036349	NM_001377265.1(MAPT):c.1568G>A (p.Arg523Gln)	MAPT (R448Q +1 more)	Single nucleotide variant (missense variant +1 more)	MAPT-related disorder +1 more	GUncertain significance
Select item 3031304	NM_001377265.1(MAPT):c.1194A>G (p.Gly398=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	MAPT-related disorder	GLikely benign
Select item 3031249	NM_001377265.1(MAPT):c.1179G>A (p.Ser393=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	MAPT-related disorder	GLikely benign
Select item 3031050	NM_001377265.1(MAPT):c.2091+11T>G	MAPT	Single nucleotide variant (intron variant)	MAPT-related disorder	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 3026788	NM_001377265.1(MAPT):c.1998+8T>A	MAPT	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3024608	GRCh37/hg19 17q21.31(chr17:43738327-44172067)x1	CRHR1, KANSL1 +3 more	Copy number loss	not provided	GPathogenic
Select item 3011213	NM_001377265.1(MAPT):c.134-20G>C	MAPT	Single nucleotide variant (intron variant)	Frontotemporal dementia	GLikely benign
Select item 2990993	NM_001377265.1(MAPT):c.2173+4G>A	MAPT	Single nucleotide variant (intron variant)	Frontotemporal dementia	GUncertain significance
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 2978943	NM_001377265.1(MAPT):c.1873C>A (p.Pro625Thr)	MAPT (P204T +6 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia	GUncertain significance
Select item 2963198	NM_001377265.1(MAPT):c.1815G>A (p.Pro605=)	MAPT	Single nucleotide variant (synonymous variant)	Frontotemporal dementia	GLikely benign
Select item 2962680	NM_001377265.1(MAPT):c.2312G>A (p.Arg771His)	MAPT (R319H +9 more)	Single nucleotide variant (missense variant +2 more)	Frontotemporal dementia	GUncertain significance
Select item 2957636	NM_001377265.1(MAPT):c.1733-5C>T	MAPT	Single nucleotide variant (intron variant)	Frontotemporal dementia	GLikely benign
Select item 2955778	NM_001377265.1(MAPT):c.1993G>A (p.Gly665Arg)	MAPT (G215R +6 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia	GUncertain significance
Select item 2908467	NM_001377265.1(MAPT):c.2467G>A (p.Glu823Lys)	MAPT (E342K +9 more)	Single nucleotide variant (missense variant +2 more)	Frontotemporal dementia	GUncertain significance
Select item 2896143	NM_001377265.1(MAPT):c.1378G>A (p.Gly460Arg)	MAPT (G105R +4 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia	GUncertain significance
Select item 2885144	NM_001377265.1(MAPT):c.1673C>T (p.Ala558Val)	MAPT (A492V +5 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia	GUncertain significance
Select item 2876169	NM_001377265.1(MAPT):c.2092-18C>A	MAPT	Single nucleotide variant (intron variant)	Frontotemporal dementia	GLikely benign
Select item 2864635	NM_001377265.1(MAPT):c.1761C>T (p.Ser587=)	MAPT	Single nucleotide variant (synonymous variant)	Frontotemporal dementia	GBenign
Select item 2856899	NM_001377265.1(MAPT):c.2078C>G (p.Pro693Arg)	MAPT (P301R +5 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia	GUncertain significance
Select item 2852369	NM_001377265.1(MAPT):c.1998+20C>T	MAPT	Single nucleotide variant (intron variant)	Frontotemporal dementia	GLikely benign
Select item 2842583	NM_001377265.1(MAPT):c.133+7G>A	MAPT	Single nucleotide variant (intron variant)	Frontotemporal dementia	GLikely benign
Select item 2837312	NM_001377265.1(MAPT):c.1700C>T (p.Thr567Ile)	MAPT (T117I +5 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia	GUncertain significance
Select item 2829189	NM_001377265.1(MAPT):c.220+5del	MAPT	Deletion (intron variant)	Frontotemporal dementia	GUncertain significance
Select item 2808138	NM_001377265.1(MAPT):c.1999-6C>A	MAPT	Single nucleotide variant (intron variant)	Frontotemporal dementia	GLikely benign
Select item 2798821	NM_001377265.1(MAPT):c.2416A>G (p.Thr806Ala)	MAPT (T356A +9 more)	Single nucleotide variant (missense variant +2 more)	Frontotemporal dementia	GUncertain significance
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 2772507	NM_001377265.1(MAPT):c.2097A>C (p.Gln699His)	MAPT (Q218H +9 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia	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 2760179	NM_001377265.1(MAPT):c.2436A>C (p.Val812=)	MAPT	Single nucleotide variant (synonymous variant +2 more)	Frontotemporal dementia	GLikely benign
Select item 2734762	NM_001377265.1(MAPT):c.1918G>C (p.Val640Leu)	MAPT (V565L +6 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia	GUncertain significance
Select item 2730627	NM_001377265.1(MAPT):c.2086G>A (p.Gly696Ser)	MAPT (G621S +5 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia	GUncertain significance
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 2725687	NM_001377265.1(MAPT):c.2445C>G (p.Pro815=)	MAPT	Single nucleotide variant (synonymous variant +2 more)	Frontotemporal dementia	GLikely benign
Select item 2719290	NM_001377265.1(MAPT):c.1999-9C>G	MAPT	Single nucleotide variant (intron variant)	Frontotemporal dementia	GUncertain significance
Select item 2713087	NM_001377265.1(MAPT):c.1794C>T (p.Pro598=)	MAPT	Single nucleotide variant (synonymous 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 2691701	NM_001377265.1(MAPT):c.1571C>G (p.Thr524Ser)	MAPT (T449S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2684850	GRCh37/hg19 17q21.31(chr17:44079186-44228987)x3	KANSL1, MAPT	Copy number gain	not provided	GUncertain significance
Select item 2681568	NM_001007532.3(STH):c.81C>T (p.Cys27=)	MAPT, STH	Single nucleotide variant (synonymous variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2672699	NM_001377265.1(MAPT):c.2404A>C (p.Asn802His)	MAPT (N321H +9 more)	Single nucleotide variant (missense variant +2 more)	Frontotemporal dementia +1 more	GUncertain significance
Select item 2647853	NM_001377265.1(MAPT):c.1830A>C (p.Pro610=)	MAPT	Single nucleotide variant (synonymous variant)	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 2647851	NM_001377265.1(MAPT):c.150C>T (p.Thr50=)	MAPT	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2636621	NM_001377265.1(MAPT):c.1639C>T (p.Arg547Trp)	MAPT (R126W +5 more)	Single nucleotide variant (missense variant +1 more)	MAPT-related disorder +1 more	GUncertain significance
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 2635948	NM_001377265.1(MAPT):c.1186C>T (p.His396Tyr)	MAPT (H321Y +1 more)	Single nucleotide variant (missense variant +1 more)	MAPT-related disorder	GUncertain significance
Select item 2631949	NM_001377265.1(MAPT):c.1138G>A (p.Val380Met)	MAPT (V305M +1 more)	Single nucleotide variant (missense variant +1 more)	MAPT-related disorder	GUncertain significance
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 2597510	NM_001007532.3(STH):c.256A>G (p.Asn86Asp)	MAPT, STH (N86D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2585150	NM_001377265.1(MAPT):c.1007C>T (p.Ala336Val)	MAPT (A261V +1 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia	GUncertain significance
Select item 2582957	NM_001377265.1(MAPT):c.1218T>G (p.Pro406=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2580427	NM_001377265.1(MAPT):c.1319G>A (p.Gly440Glu)	MAPT (G365E +1 more)	Single nucleotide variant (missense variant +1 more)	MAPT-related disorder +1 more	GUncertain significance
Select item 2578791	NM_001377265.1(MAPT):c.1622C>T (p.Thr541Met)	MAPT (T120M +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 2573094	NM_001377265.1(MAPT):c.2266C>T (p.Pro756Ser)	MAPT (P275S +9 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Frontotemporal dementia	GPathogenic
Select item 2572868	NM_001377265.1(MAPT):c.1160A>C (p.Gln387Pro)	MAPT (Q312P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2570991	NM_001377265.1(MAPT):c.775G>A (p.Ala259Thr)	MAPT (A184T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2533936	NM_001377265.1(MAPT):c.1900C>A (p.Arg634Ser)	MAPT (R184S +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2502848	NC_000017.11:g.45982995A>G	MAPT	Single nucleotide variant	Parkinsonian disorder	GUncertain significance
Select item 2501455	NM_001377265.1(MAPT):c.965A>G (p.Gln322Arg)	MAPT (Q247R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2500472	NM_001377265.1(MAPT):c.998G>C (p.Gly333Ala)	MAPT (G258A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2498710	NM_001377265.1(MAPT):c.1732+2367C>A	MAPT (P513T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2498709	NM_001377265.1(MAPT):c.1732+2365C>A	MAPT (P512H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2445689	NM_001377265.1(MAPT):c.133+16T>C	MAPT	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2425442	NC_000017.10:g.(?_44039704)_(44101537_?)dup	MAPT, STH	Duplication	Frontotemporal dementia	GUncertain significance
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 2397123	NM_001007532.3(STH):c.5G>T (p.Ser2Ile)	MAPT, STH (S2I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387091	NM_001007532.3(STH):c.194T>C (p.Val65Ala)	MAPT, STH (V65A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371666	NM_001007532.3(STH):c.368C>T (p.Ala123Val)	MAPT, STH (A123V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2259157	NM_001007532.3(STH):c.335C>A (p.Ala112Asp)	MAPT, STH (A112D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218021	NM_001007532.3(STH):c.65C>T (p.Pro22Leu)	MAPT, STH (P22L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217588	NM_001007532.3(STH):c.74T>C (p.Ile25Thr)	MAPT, STH (I25T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2205337	NM_001377265.1(MAPT):c.1837C>T (p.Arg613Trp)	MAPT (R547W +6 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia +2 more	GUncertain significance
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 2185032	NM_001377265.1(MAPT):c.2174-5T>A	MAPT	Single nucleotide variant (intron variant)	Frontotemporal dementia	GUncertain significance
Select item 2159829	NM_001377265.1(MAPT):c.1607G>C (p.Gly536Ala)	MAPT (G461A +5 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia	GUncertain significance
Select item 2152289	NM_001377265.1(MAPT):c.2419G>A (p.Gly807Ser)	MAPT (G357S +9 more)	Single nucleotide variant (missense variant +2 more)	Frontotemporal dementia	GUncertain significance
Select item 2151813	NM_001377265.1(MAPT):c.1957G>A (p.Gly653Ser)	MAPT (G261S +6 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia	GUncertain significance
Select item 2150469	NM_001377265.1(MAPT):c.2091+17G>A	MAPT	Single nucleotide variant (intron variant)	Frontotemporal dementia	GLikely benign
Select item 2138061	NM_001377265.1(MAPT):c.1838G>A (p.Arg613Gln)	MAPT (R163Q +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2138060	NM_001377265.1(MAPT):c.1802G>T (p.Arg601Leu)	MAPT (R535L +6 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia	GUncertain significance
Select item 2138059	NM_001377265.1(MAPT):c.1777G>A (p.Gly593Ser)	MAPT (G143S +6 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia	GUncertain significance
Select item 2124391	NM_001377265.1(MAPT):c.1752G>A (p.Gly584=)	MAPT	Single nucleotide variant (synonymous variant)	Frontotemporal dementia	GLikely benign
Select item 2099456	NM_001377265.1(MAPT):c.2287-12C>T	MAPT	Single nucleotide variant (intron variant)	Frontotemporal dementia	GLikely benign

<< First< Prev

Page of 7