ClinVar for MedGen (Select 462388) - 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 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)	Frontotemporal dementia +3 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 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 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 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 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 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)	Pick disease +3 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)	Pick disease +3 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 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 2159736	NM_000021.4(PSEN1):c.1130-13del	PSEN1	Deletion (intron variant)	Alzheimer disease 3 +3 more	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 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 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 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 2083843	NM_000021.4(PSEN1):c.955+16T>G	PSEN1	Single nucleotide variant (intron variant)	Alzheimer disease 3 +3 more	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 2056809	NM_000021.4(PSEN1):c.1223T>C (p.Ile408Thr)	PSEN1 (I404T +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GUncertain significance
Select item 2048200	NM_000021.4(PSEN1):c.679A>G (p.Ile227Val)	PSEN1 (I223V +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GUncertain significance
Select item 2042091	NM_000021.4(PSEN1):c.871A>G (p.Thr291Ala)	PSEN1 (T287A +1 more)	Single nucleotide variant (missense variant)	Pick disease +3 more	GUncertain significance
Select item 2028849	NM_000021.4(PSEN1):c.274T>A (p.Cys92Ser)	PSEN1 (C88S +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia +4 more	GPathogenic
Select item 2019095	NM_000021.4(PSEN1):c.87+11_87+14dup	PSEN1	Duplication (intron variant)	Alzheimer disease 3 +3 more	GLikely benign
Select item 2017451	NM_000021.4(PSEN1):c.308_310del (p.Val103_Ser104delinsGly)	PSEN1	Deletion (inframe_indel)	Alzheimer disease 3 +3 more	GUncertain significance
Select item 1997508	NM_000021.4(PSEN1):c.252G>C (p.Met84Ile)	PSEN1 (M84I +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GLikely pathogenic
Select item 1981356	NM_000021.4(PSEN1):c.876G>C (p.Met292Ile)	PSEN1 (M288I +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GUncertain significance
Select item 1979276	NM_000021.4(PSEN1):c.234C>A (p.Gly78=)	PSEN1	Single nucleotide variant (synonymous variant)	Frontotemporal dementia +3 more	GLikely benign
Select item 1968278	NM_000021.4(PSEN1):c.123A>T (p.Arg41Ser)	PSEN1 (R37S +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GUncertain significance
Select item 1967143	NM_000021.4(PSEN1):c.808_810dup (p.Met270_Leu271insMet)	PSEN1	Duplication (inframe_insertion)	Alzheimer disease 3 +3 more	GUncertain significance
Select item 1964612	NM_000021.4(PSEN1):c.906C>T (p.Asp302=)	PSEN1	Single nucleotide variant (synonymous variant)	Alzheimer disease 3 +3 more	GLikely benign
Select item 1962493	NM_000021.4(PSEN1):c.792G>A (p.Pro264=)	PSEN1	Single nucleotide variant (synonymous variant)	Alzheimer disease 3 +3 more	GLikely benign
Select item 1917985	NM_000021.4(PSEN1):c.845T>C (p.Leu282Pro)	PSEN1 (L282P +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GPathogenic
Select item 1806873	NM_000021.4(PSEN1):c.1184A>T (p.Lys395Ile)	PSEN1 (K391I +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1709834	NM_000021.4(PSEN1):c.808A>G (p.Met270Val)	PSEN1 (M266V +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GUncertain significance
Select item 1709203	NM_000021.4(PSEN1):c.504ATC[1] (p.Ser170del)	PSEN1 (S166del +1 more)	Microsatellite (inframe_deletion)	Alzheimer disease 3 +3 more	GConflicting classifications of pathogenicity
Select item 1669762	NM_000021.4(PSEN1):c.459G>T (p.Leu153=)	PSEN1	Single nucleotide variant (synonymous variant)	Alzheimer disease 3 +3 more	GLikely benign
Select item 1644912	NM_000021.4(PSEN1):c.1063C>T (p.Pro355Ser)	PSEN1 (P351S +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +4 more	GConflicting classifications of pathogenicity
Select item 1631818	NM_000021.4(PSEN1):c.801A>G (p.Pro267=)	PSEN1	Single nucleotide variant (synonymous variant)	Alzheimer disease 3 +3 more	GLikely benign
Select item 1623415	NM_000021.4(PSEN1):c.177C>T (p.Ser59=)	PSEN1	Single nucleotide variant (synonymous variant)	Alzheimer disease 3 +3 more	GLikely benign
Select item 1609857	NM_000021.4(PSEN1):c.1347A>G (p.Thr449=)	PSEN1	Single nucleotide variant (synonymous variant)	Alzheimer disease 3 +3 more	GLikely benign
Select item 1607086	NM_000021.4(PSEN1):c.549-19C>A	PSEN1	Single nucleotide variant (intron variant)	Alzheimer disease 3 +3 more	GLikely benign
Select item 1589062	NM_000021.4(PSEN1):c.956-20A>C	PSEN1	Single nucleotide variant (intron variant)	Alzheimer disease 3 +3 more	GLikely benign
Select item 1587846	NM_000021.4(PSEN1):c.909G>A (p.Pro303=)	PSEN1	Single nucleotide variant (synonymous variant)	Pick disease +3 more	GLikely benign
Select item 1582098	NM_000021.4(PSEN1):c.145C>G (p.Pro49Ala)	PSEN1 (P45A +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +4 more	GConflicting classifications of pathogenicity
Select item 1569167	NM_000021.4(PSEN1):c.549-4dup	PSEN1	Duplication (intron variant)	Alzheimer disease 3 +3 more	GBenign
Select item 1561292	NM_000021.4(PSEN1):c.501T>C (p.Ile167=)	PSEN1	Single nucleotide variant (synonymous variant)	Alzheimer disease 3 +3 more	GLikely benign
Select item 1548466	NM_000021.4(PSEN1):c.480+17G>A	PSEN1	Single nucleotide variant (intron variant)	Alzheimer disease 3 +3 more	GLikely benign
Select item 1538139	NM_000021.4(PSEN1):c.213G>A (p.Glu71=)	PSEN1	Single nucleotide variant (synonymous variant)	Alzheimer disease 3 +3 more	GLikely benign
Select item 1518360	NM_000021.4(PSEN1):c.1377A>G (p.Gln459=)	PSEN1	Single nucleotide variant (synonymous variant)	Frontotemporal dementia +5 more	GConflicting classifications of pathogenicity
Select item 1505666	NM_000021.4(PSEN1):c.118_120del (p.Asp40del)	PSEN1 (D40del +1 more)	Deletion (inframe_deletion)	Frontotemporal dementia +3 more	GUncertain significance
Select item 1489371	NM_000021.4(PSEN1):c.745A>T (p.Ile249Phe)	PSEN1 (I245F +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GLikely pathogenic
Select item 1459049	NC_000014.8:g.(?_73673074)_(73673200_?)del	PSEN1	Deletion	Alzheimer disease 3 +3 more	GPathogenic
Select item 1458372	NM_000021.4(PSEN1):c.838G>A (p.Glu280Lys)	PSEN1 (E276K +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GPathogenic
Select item 1453682	NM_000021.4(PSEN1):c.750G>T (p.Leu250Phe)	PSEN1 (L250F +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GPathogenic
Select item 1450587	NM_000021.4(PSEN1):c.1129A>T (p.Arg377Trp)	PSEN1 (R373W +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GPathogenic
Select item 1446843	NM_000021.4(PSEN1):c.367G>C (p.Glu123Gln)	PSEN1 (E119Q +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +4 more	GUncertain significance
Select item 1441953	NM_000021.4(PSEN1):c.918A>C (p.Gln306His)	PSEN1 (Q306H +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GUncertain significance
Select item 1438231	NM_000021.4(PSEN1):c.955A>T (p.Ser319Cys)	PSEN1 (S315C +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GUncertain significance
Select item 1428967	NM_000021.4(PSEN1):c.370A>G (p.Thr124Ala)	PSEN1 (T120A +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GUncertain significance
Select item 1408622	NM_000021.4(PSEN1):c.1003G>A (p.Gly335Arg)	PSEN1 (G331R +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GUncertain significance
Select item 1390006	NM_000021.4(PSEN1):c.560A>C (p.Lys187Thr)	PSEN1 (K187T +1 more)	Single nucleotide variant (missense variant)	Pick disease +3 more	GUncertain significance
Select item 1388899	NM_000021.4(PSEN1):c.442A>G (p.Ile148Val)	PSEN1 (I144V +1 more)	Single nucleotide variant (missense variant)	Pick disease +3 more	GUncertain significance
Select item 1388051	NM_000021.4(PSEN1):c.869-3C>A	PSEN1	Single nucleotide variant (intron variant)	Pick disease +3 more	GUncertain significance
Select item 1385206	NM_000021.4(PSEN1):c.932A>G (p.Lys311Arg)	PSEN1 (K307R +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +4 more	GUncertain significance
Select item 1374628	NM_000021.4(PSEN1):c.640C>A (p.His214Asn)	PSEN1 (H210N +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +4 more	GConflicting classifications of pathogenicity
Select item 1365955	NM_000021.4(PSEN1):c.571G>A (p.Val191Ile)	PSEN1 (V187I +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GUncertain significance
Select item 1360165	NM_000021.4(PSEN1):c.1081G>C (p.Val361Leu)	PSEN1 (V357L +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GUncertain significance
Select item 1178343	NM_000021.4(PSEN1):c.1279A>G (p.Ile427Val)	PSEN1 (I423V +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GConflicting classifications of pathogenicity
Select item 1178341	NM_000021.4(PSEN1):c.782T>C (p.Val261Ala)	PSEN1 (V257A +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +4 more	GConflicting classifications of pathogenicity
Select item 1168490	NC_000014.9:g.73136378del	PSEN1	Deletion	Alzheimer disease 3 +3 more	GBenign
Select item 1165965	NM_000021.4(PSEN1):c.138C>T (p.His46=)	PSEN1	Single nucleotide variant (synonymous variant)	Alzheimer disease 3 +3 more	GBenign
Select item 1164252	NM_000021.4(PSEN1):c.843G>C (p.Thr281=)	PSEN1	Single nucleotide variant (synonymous variant)	Alzheimer disease 3 +4 more	GBenign/Likely benign

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