ClinVar for MedGen (Select 83266) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243972	NC_000014.8:g.(?_73683814)_(73685997_?)dup	PSEN1	Duplication	Alzheimer disease 3 +3 more	GUncertain significance
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 2953469	NM_000021.4(PSEN1):c.895G>T (p.Ala299Ser)	PSEN1 (A295S +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GUncertain significance
Select item 2953295	NM_000021.4(PSEN1):c.955+11T>G	PSEN1	Single nucleotide variant (intron variant)	Alzheimer disease 3 +3 more	GLikely benign
Select item 2951218	NM_000021.4(PSEN1):c.256T>C (p.Phe86Leu)	PSEN1 (F82L +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GUncertain significance
Select item 2948542	NM_000021.4(PSEN1):c.908C>T (p.Pro303Leu)	PSEN1 (P299L +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GUncertain significance
Select item 2939037	NM_000021.4(PSEN1):c.491C>A (p.Ala164Asp)	PSEN1 (A160D +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GUncertain significance
Select item 2934285	NM_000021.4(PSEN1):c.468C>T (p.Tyr156=)	PSEN1	Single nucleotide variant (synonymous variant)	PSEN1-related disorder +4 more	GLikely benign
Select item 2931172	NM_000021.4(PSEN1):c.1249-6C>A	PSEN1	Single nucleotide variant (intron variant)	Alzheimer disease 3 +3 more	GUncertain significance
Select item 2926872	NM_000021.4(PSEN1):c.548+13A>G	PSEN1	Single nucleotide variant (intron variant)	Alzheimer disease 3 +3 more	GLikely benign
Select item 2926113	NM_000021.4(PSEN1):c.592G>C (p.Val198Leu)	PSEN1 (V194L +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GUncertain significance
Select item 2925995	NM_000021.4(PSEN1):c.868+16_868+21del	PSEN1	Deletion (intron variant)	Alzheimer disease 3 +3 more	GLikely benign
Select item 2925523	NM_000021.4(PSEN1):c.869-2A>G	PSEN1	Single nucleotide variant (splice acceptor variant)	Alzheimer disease 3 +3 more	GPathogenic
Select item 2925522	NM_000021.4(PSEN1):c.250A>G (p.Met84Val)	PSEN1 (M84V +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GPathogenic
Select item 2924422	NM_000021.4(PSEN1):c.255C>A (p.Leu85=)	PSEN1	Single nucleotide variant (synonymous variant)	Alzheimer disease 3 +3 more	GLikely benign
Select item 2924220	NM_000021.4(PSEN1):c.323G>A (p.Arg108Gln)	PSEN1 (R104Q +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GUncertain significance
Select item 2923997	NM_000021.4(PSEN1):c.480+20C>T	PSEN1	Single nucleotide variant (intron variant)	Alzheimer disease 3 +3 more	GLikely benign
Select item 2923936	NM_000021.4(PSEN1):c.1087G>C (p.Glu363Gln)	PSEN1 (E359Q +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GUncertain significance
Select item 2923571	NM_000021.4(PSEN1):c.1055G>A (p.Arg352His)	PSEN1 (R348H +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GLikely benign
Select item 2923020	NM_000021.4(PSEN1):c.1005G>T (p.Gly335=)	PSEN1	Single nucleotide variant (synonymous variant)	Alzheimer disease 3 +3 more	GLikely benign
Select item 2922173	NM_000021.4(PSEN1):c.1306C>G (p.Pro436Ala)	PSEN1 (P432A +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GConflicting classifications of pathogenicity
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 2684318	NM_000021.4(PSEN1):c.779C>G (p.Ala260Gly)	PSEN1 (A256G +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2672699	NM_001377265.1(MAPT):c.2404A>C (p.Asn802His)	MAPT (N321H +9 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2585155	NM_000021.4(PSEN1):c.1156T>G (p.Phe386Val)	PSEN1 (F382V +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GUncertain significance
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 2577038	NM_000021.4(PSEN1):c.95A>G (p.Asn32Ser)	PSEN1 (N28S +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2573094	NM_001377265.1(MAPT):c.2266C>T (p.Pro756Ser)	MAPT (P275S +9 more)	Single nucleotide variant (missense variant +2 more)	Frontotemporal dementia	GPathogenic
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 2419054	NM_000021.4(PSEN1):c.766T>A (p.Tyr256Asn)	PSEN1 (Y252N +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GPathogenic
Select item 2305774	NM_000021.4(PSEN1):c.124C>G (p.Arg42Gly)	PSEN1 (R38G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 2205337	NM_001377265.1(MAPT):c.1837C>T (p.Arg613Trp)	MAPT (R547W +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2199958	NM_000021.4(PSEN1):c.842C>T (p.Thr281Met)	PSEN1 (T277M +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GUncertain significance
Select item 2197336	NM_000021.4(PSEN1):c.1071A>G (p.Ser357=)	PSEN1	Single nucleotide variant (synonymous variant)	PSEN1-related disorder +4 more	GLikely benign
Select item 2196767	NM_000021.4(PSEN1):c.481-13C>T	PSEN1	Single nucleotide variant (intron variant)	Alzheimer disease 3 +3 more	GLikely benign
Select item 2193368	NM_000021.4(PSEN1):c.774A>G (p.Leu258=)	PSEN1	Single nucleotide variant (synonymous variant)	Alzheimer disease 3 +4 more	GLikely benign
Select item 2192154	NM_000021.4(PSEN1):c.537C>T (p.Phe179=)	PSEN1	Single nucleotide variant (synonymous variant)	Alzheimer disease 3 +3 more	GLikely benign
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 2183816	NM_000021.4(PSEN1):c.177C>A (p.Ser59=)	PSEN1	Single nucleotide variant (synonymous variant)	Alzheimer disease 3 +3 more	GLikely benign
Select item 2182147	NM_000021.4(PSEN1):c.1107C>T (p.Leu369=)	PSEN1	Single nucleotide variant (synonymous variant)	Acne inversa, familial, 3 +3 more	GLikely benign
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 2159736	NM_000021.4(PSEN1):c.1130-13del	PSEN1	Deletion (intron variant)	Alzheimer disease 3 +3 more	GLikely benign
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 2141331	NM_000021.4(PSEN1):c.768T>C (p.Tyr256=)	PSEN1	Single nucleotide variant (synonymous variant)	Alzheimer disease 3 +3 more	GUncertain significance
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 2137604	NM_000021.4(PSEN1):c.476A>T (p.Tyr159Phe)	PSEN1 (Y155F +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GPathogenic
Select item 2137603	NM_000021.4(PSEN1):c.427A>G (p.Ile143Val)	PSEN1 (I143V +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GLikely pathogenic
Select item 2137602	NM_000021.4(PSEN1):c.392A>G (p.His131Arg)	PSEN1 (H131R +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GUncertain significance
Select item 2124579	NM_000021.4(PSEN1):c.936T>G (p.Asn312Lys)	PSEN1 (N308K +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	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 2107140	NM_000021.4(PSEN1):c.466T>C (p.Tyr156His)	PSEN1 (Y156H +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GUncertain significance
Select item 2105525	NM_000021.4(PSEN1):c.1386C>T (p.Phe462=)	PSEN1	Single nucleotide variant (synonymous variant)	Pick disease +3 more	GBenign
Select item 2101497	NM_000021.4(PSEN1):c.550G>A (p.Glu184Lys)	PSEN1 (E184K +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GUncertain significance
Select item 2100944	NM_000021.4(PSEN1):c.1094C>T (p.Ser365Phe)	PSEN1 (S361F +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GUncertain significance
Select item 2099456	NM_001377265.1(MAPT):c.2287-12C>T	MAPT	Single nucleotide variant (intron variant)	Frontotemporal dementia	GLikely benign
Select item 2094397	NM_000021.4(PSEN1):c.352T>G (p.Phe118Val)	PSEN1 (F114V +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GUncertain significance
Select item 2086260	NM_001377265.1(MAPT):c.1890C>T (p.Ser630=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia	GLikely benign
Select item 2085966	NM_001377265.1(MAPT):c.2328C>T (p.Ala776=)	MAPT	Single nucleotide variant (synonymous variant +2 more)	Frontotemporal dementia	GLikely benign
Select item 2083843	NM_000021.4(PSEN1):c.955+16T>G	PSEN1	Single nucleotide variant (intron variant)	Alzheimer disease 3 +3 more	GLikely benign
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 2070675	NM_001377265.1(MAPT):c.1407+10C>T	MAPT	Single nucleotide variant (intron variant)	Frontotemporal dementia	GLikely benign
Select item 2068659	NM_000021.4(PSEN1):c.426C>T (p.Val142=)	PSEN1	Single nucleotide variant (synonymous variant)	Alzheimer disease 3 +3 more	GLikely benign
Select item 2067074	NM_000021.4(PSEN1):c.679A>C (p.Ile227Leu)	PSEN1 (I223L +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GUncertain significance
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 2063341	NM_001377265.1(MAPT):c.1677C>T (p.Asn559=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia	GLikely benign

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