"PreventionGenetics, part of Exact Sciences"[submitter] AND "MAPT"[gen - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 257501	NM_001377265.1(MAPT):c.-13A>G	MAPT	Single nucleotide variant (5 prime UTR variant +1 more)	MAPT-Related Spectrum Disorders +2 more	GBenign
Select item 98194	NM_001377265.1(MAPT):c.54C>T (p.Tyr18=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 1169744	NM_001377265.1(MAPT):c.176C>T (p.Pro59Leu)	MAPT (P59L)	Single nucleotide variant (missense variant +2 more)	Frontotemporal dementia +2 more	GBenign/Likely 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 257503	NM_001377265.1(MAPT):c.220+18C>T	MAPT	Single nucleotide variant (intron variant)	Frontotemporal dementia +2 more	GBenign
Select item 323642	NM_001377265.1(MAPT):c.220+2450A>G	MAPT	Single nucleotide variant (synonymous variant +1 more)	MAPT-related disorder +2 more	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 257504	NM_001377265.1(MAPT):c.220+2535A>G	MAPT	Single nucleotide variant (intron variant)	Parkinson disease, late-onset +7 more	GBenign
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 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 706054	NM_001377265.1(MAPT):c.643C>T (p.Pro215Ser)	MAPT (P140S +1 more)	Single nucleotide variant (missense variant +1 more)	MAPT-related disorder +1 more	GBenign/Likely 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 98244	NM_001377265.1(MAPT):c.830C>T (p.Pro277Leu)	MAPT (P202L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 638372	NM_001377265.1(MAPT):c.889C>A (p.Arg297Ser)	MAPT (R222S +1 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia +4 more	GConflicting classifications of pathogenicity
Select item 703938	NM_001377265.1(MAPT):c.912C>G (p.Pro304=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	MAPT-related disorder +2 more	GBenign/Likely benign
Select item 98197	NM_001377265.1(MAPT):c.914A>G (p.Gln305Arg)	MAPT (Q230R +1 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia +6 more	GBenign/Likely 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 452810	NM_001377265.1(MAPT):c.1042T>C (p.Ser348Pro)	MAPT (S273P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GUncertain significance
Select item 695402	NM_001377265.1(MAPT):c.1070C>T (p.Ser357Leu)	MAPT (S282L +1 more)	Single nucleotide variant (missense variant +1 more)	MAPT-related disorder +1 more	GConflicting classifications of pathogenicity
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 98199	NM_001377265.1(MAPT):c.1080C>T (p.Asp360=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 98200	NM_001377265.1(MAPT):c.1091T>C (p.Val364Ala)	MAPT (V289A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
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 257505	NM_001377265.1(MAPT):c.1178C>T (p.Ser393Leu)	MAPT (S318L +1 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia +2 more	GBenign
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 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 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 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 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 257502	NM_001377265.1(MAPT):c.1333C>T (p.Arg445Trp)	MAPT (R370W +1 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia +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 specified +2 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 specified +2 more	GBenign
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 529748	NM_001377265.1(MAPT):c.1628T>C (p.Ile543Thr)	MAPT (I151T +5 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia +1 more	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 1630372	NM_001377265.1(MAPT):c.1704G>T (p.Pro568=)	MAPT	Single nucleotide variant (synonymous variant)	MAPT-related disorder +1 more	GLikely benign
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 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 1653668	NM_001377265.1(MAPT):c.1732+8_1732+10del	MAPT	Microsatellite (intron variant)	MAPT-related disorder +1 more	GLikely benign
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 695676	NM_001377265.1(MAPT):c.1732+2364C>T	MAPT (P512S)	Single nucleotide variant (missense variant +1 more)	MAPT-related disorder +2 more	GBenign/Likely benign
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 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 98208	NM_001377265.1(MAPT):c.1891G>A (p.Ala631Thr)	MAPT (A556T +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 98209	NM_001377265.1(MAPT):c.1941T>C (p.Asn647=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	MAPT-Related Spectrum Disorders +3 more	GBenign
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 98211	NM_001377265.1(MAPT):c.1986G>A (p.Pro662=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 2066355	NM_001377265.1(MAPT):c.1992C>T (p.Gly664=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia +1 more	GLikely benign
Select item 2062379	NM_001377265.1(MAPT):c.1995G>C (p.Gly665=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia +1 more	GLikely benign
Select item 3050374	NM_001377265.1(MAPT):c.1998+41G>A	MAPT	Single nucleotide variant (intron variant)	MAPT-related disorder	GLikely benign
Select item 14245	NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu)	MAPT (P301L +5 more)	Single nucleotide variant (missense variant +1 more)	MAPT-related disorder +6 more	GPathogenic
Select item 3031050	NM_001377265.1(MAPT):c.2091+11T>G	MAPT	Single nucleotide variant (intron variant)	MAPT-related disorder	GLikely benign
Select item 98222	NM_001377265.1(MAPT):c.2091+16C>T	MAPT	Single nucleotide variant (intron variant)	Frontotemporal dementia +5 more	GPathogenic
Select item 98225	NM_001377265.1(MAPT):c.2091+29G>A	MAPT	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 889078	NM_001377265.1(MAPT):c.2173+9G>C	MAPT	Single nucleotide variant (intron variant)	Frontotemporal dementia +2 more	GConflicting classifications of pathogenicity
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 +2 more	GConflicting classifications of pathogenicity

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Items: 56