ClinVar for MedGen (Select 1853) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248140	NC_000021.8:g.(?_27347363)_(27542938_?)dup	APP	Duplication	Alzheimer disease	GUncertain significance
Select item 3024044	NM_000484.4(APP):c.15G>C (p.Leu5Phe)	APP (L5F)	Single nucleotide variant (missense variant +1 more)	Alzheimer disease	GUncertain significance
Select item 2992926	NM_000484.4(APP):c.1369C>T (p.His457Tyr)	APP (H326Y +6 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 2990974	NM_000484.4(APP):c.1191G>A (p.Arg397=)	APP	Single nucleotide variant (synonymous variant)	Alzheimer disease	GLikely benign
Select item 2984773	NM_000484.4(APP):c.1750C>G (p.Pro584Ala)	APP (P453A +6 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 2981605	NM_000484.4(APP):c.781C>T (p.Pro261Ser)	APP (P261S +3 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 2966107	NM_000484.4(APP):c.1416C>T (p.Ala472=)	APP	Single nucleotide variant (synonymous variant)	Alzheimer disease	GLikely benign
Select item 2959122	NM_000484.4(APP):c.102T>C (p.Ile34=)	APP	Single nucleotide variant (synonymous variant +2 more)	Alzheimer disease	GLikely benign
Select item 2914083	NM_000484.4(APP):c.1587+6C>T	APP, LOC126653330	Single nucleotide variant (intron variant)	Alzheimer disease +1 more	GConflicting classifications of pathogenicity
Select item 2911288	NM_000484.4(APP):c.419G>C (p.Arg140Thr)	APP (R135T +3 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 2909097	NM_000484.4(APP):c.226-6T>C	APP	Single nucleotide variant (intron variant)	Alzheimer disease	GLikely benign
Select item 2907970	NM_000484.4(APP):c.563C>T (p.Pro188Leu)	APP (P153L +3 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 2904917	NM_000484.4(APP):c.1910-18C>T	APP	Single nucleotide variant (intron variant)	Alzheimer disease	GLikely benign
Select item 2904777	NM_000484.4(APP):c.1926C>T (p.Ala642=)	APP	Single nucleotide variant (synonymous variant +1 more)	Alzheimer disease	GLikely benign
Select item 2903084	NM_000484.4(APP):c.2046A>G (p.Glu682=)	APP	Single nucleotide variant (synonymous variant)	Alzheimer disease	GLikely benign
Select item 2892919	NM_000484.4(APP):c.2240G>A (p.Arg747His)	APP (R729H +9 more)	Single nucleotide variant (missense variant)	Alzheimer disease +1 more	GUncertain significance
Select item 2891584	NM_000484.4(APP):c.1569C>T (p.Ala523=)	APP, LOC126653330	Single nucleotide variant (synonymous variant)	Alzheimer disease	GLikely benign
Select item 2890099	NM_000484.4(APP):c.565C>T (p.Leu189=)	APP	Single nucleotide variant (synonymous variant)	Alzheimer disease	GLikely benign
Select item 2888607	NM_000484.4(APP):c.1646A>G (p.Tyr549Cys)	APP (Y525C +6 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 2884834	NM_000484.4(APP):c.1366A>G (p.Thr456Ala)	APP (T437A +6 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 2883197	NM_000484.4(APP):c.2065-17_2065-15del	APP	Deletion (intron variant)	Alzheimer disease	GLikely benign
Select item 2869416	NM_000484.4(APP):c.828C>A (p.Thr276=)	APP	Single nucleotide variant (synonymous variant)	Alzheimer disease	GLikely benign
Select item 2865931	NM_000484.4(APP):c.879A>G (p.Glu293=)	APP	Single nucleotide variant (synonymous variant +1 more)	Alzheimer disease	GLikely benign
Select item 2856224	NM_000484.4(APP):c.2010G>A (p.Lys670=)	APP	Single nucleotide variant (synonymous variant)	Alzheimer disease	GLikely benign
Select item 2845699	NM_000484.4(APP):c.1034-4A>G	APP	Single nucleotide variant (intron variant)	Alzheimer disease	GLikely benign
Select item 2833442	NM_000484.4(APP):c.57+15T>C	APP	Single nucleotide variant (intron variant)	Alzheimer disease	GLikely benign
Select item 2793300	NM_000484.4(APP):c.534G>T (p.Lys178Asn)	APP (K178N +3 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 2771961	NM_000484.4(APP):c.1345G>A (p.Glu449Lys)	APP (E339K +6 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 2771826	NM_000484.4(APP):c.1824C>T (p.Pro608=)	APP	Single nucleotide variant (synonymous variant)	Alzheimer disease	GLikely benign
Select item 2769977	NM_000484.4(APP):c.581A>G (p.Asp194Gly)	APP (D159G +3 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GBenign
Select item 2751464	NM_000484.4(APP):c.1021_1033+438del	APP	Deletion (intron variant +1 more)	Alzheimer disease	GUncertain significance
Select item 2742493	NM_000484.4(APP):c.24C>T (p.Leu8=)	APP	Single nucleotide variant (synonymous variant +1 more)	Alzheimer disease	GLikely benign
Select item 2742324	NM_000484.4(APP):c.305G>A (p.Arg102His)	APP (R102H +3 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GLikely benign
Select item 2728272	NM_000484.4(APP):c.2047G>A (p.Val683Ile)	APP (V665I +9 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 2724746	NM_000484.4(APP):c.1770C>T (p.Asn590=)	APP	Single nucleotide variant (synonymous variant)	Alzheimer disease	GBenign
Select item 2713445	NM_000484.4(APP):c.1091-20_1091-18del	APP	Microsatellite (intron variant)	Alzheimer disease	GLikely benign
Select item 2637615	NM_000484.4(APP):c.433G>A (p.Glu145Lys)	APP (E110K +3 more)	Single nucleotide variant (missense variant)	Alzheimer disease +1 more	GUncertain significance
Select item 2423147	NC_000021.8:g.(?_27113910)_(27542938_?)dup	APP, GABPA	Duplication	Alzheimer disease	GPathogenic
Select item 2421424	NM_000484.4(APP):c.963C>T (p.Tyr321=)	APP	Single nucleotide variant (synonymous variant +1 more)	Alzheimer disease	GLikely benign
Select item 2420342	NM_000484.4(APP):c.1963+18C>T	APP	Single nucleotide variant (intron variant)	Alzheimer disease	GLikely benign
Select item 2419835	NM_000484.4(APP):c.355+16G>C	APP	Single nucleotide variant (intron variant)	Alzheimer disease	GLikely benign
Select item 2201605	NM_000484.4(APP):c.1475A>G (p.Asn492Ser)	APP, LOC126653330 (N436S +6 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 2198130	NM_000484.4(APP):c.1848C>T (p.Asp616=)	APP	Single nucleotide variant (synonymous variant)	Alzheimer disease	GBenign
Select item 2192814	NM_000484.4(APP):c.1649A>G (p.Asn550Ser)	APP (N419S +6 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 2188476	NM_000484.4(APP):c.469-5T>C	APP	Single nucleotide variant (intron variant)	Alzheimer disease	GLikely benign
Select item 2188353	NM_000484.4(APP):c.1035G>T (p.Met345Ile)	APP (M289I +1 more)	Single nucleotide variant (missense variant +2 more)	Alzheimer disease	GUncertain significance
Select item 2186431	NM_000484.4(APP):c.496C>T (p.His166Tyr)	APP (H110Y +3 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 2185730	NM_000484.4(APP):c.2019A>C (p.Ala673=)	APP	Single nucleotide variant (synonymous variant)	Alzheimer disease	GLikely benign
Select item 2185605	NM_000484.4(APP):c.240G>T (p.Leu80=)	APP	Single nucleotide variant (synonymous variant)	Alzheimer disease	GLikely benign
Select item 2169866	NM_000484.4(APP):c.226-8T>C	APP	Single nucleotide variant (intron variant)	Alzheimer disease	GLikely benign
Select item 2169175	NM_000484.4(APP):c.621T>C (p.Asp207=)	APP	Single nucleotide variant (synonymous variant)	Alzheimer disease	GLikely benign
Select item 2168134	NM_000484.4(APP):c.312G>A (p.Gln104=)	APP	Single nucleotide variant (synonymous variant)	Alzheimer disease	GLikely benign
Select item 2162880	NM_000484.4(APP):c.1570G>A (p.Ala524Thr)	APP, LOC126653330 (A393T +6 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 2158441	NM_000484.4(APP):c.2265C>T (p.Asn755=)	APP	Single nucleotide variant (synonymous variant)	Alzheimer disease	GLikely benign
Select item 2153729	NM_000484.4(APP):c.1498G>A (p.Ala500Thr)	APP, LOC126653330 (A390T +6 more)	Single nucleotide variant (missense variant)	Alzheimer disease +1 more	GUncertain significance
Select item 2151655	NM_000484.4(APP):c.58-3C>T	APP	Single nucleotide variant (intron variant)	Alzheimer disease	GUncertain significance
Select item 2148315	NM_000484.4(APP):c.1653G>A (p.Val551=)	APP	Single nucleotide variant (synonymous variant)	Alzheimer disease +1 more	GLikely benign
Select item 2145498	NM_000484.4(APP):c.901C>G (p.Arg301Gly)	APP (R245G +2 more)	Single nucleotide variant (missense variant +1 more)	Alzheimer disease	GUncertain significance
Select item 2145496	NM_000484.4(APP):c.456C>T (p.Thr152=)	APP	Single nucleotide variant (synonymous variant)	Alzheimer disease	GLikely benign
Select item 2141602	NM_000484.4(APP):c.1980T>C (p.Asn660=)	APP	Single nucleotide variant (synonymous variant)	Alzheimer disease +1 more	GLikely benign
Select item 2139811	NM_000484.4(APP):c.2065-4C>T	APP	Single nucleotide variant (intron variant)	Alzheimer disease	GLikely benign
Select item 2136593	NM_000484.4(APP):c.1459-15A>T	APP, LOC126653330	Single nucleotide variant (intron variant)	Alzheimer disease	GLikely benign
Select item 2127802	NM_000484.4(APP):c.105C>A (p.Ala35=)	APP	Single nucleotide variant (synonymous variant +2 more)	Alzheimer disease	GLikely benign
Select item 2125332	NM_000484.4(APP):c.2065-14_2065-12del	APP	Deletion (intron variant)	Alzheimer disease	GLikely benign
Select item 2114799	NM_000484.4(APP):c.2086G>A (p.Gly696Ser)	APP (G659S +9 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 2106465	NM_000484.4(APP):c.976G>A (p.Gly326Ser)	APP (G326S +2 more)	Single nucleotide variant (missense variant +1 more)	Alzheimer disease	GUncertain significance
Select item 2095866	NM_000484.4(APP):c.57+14C>T	APP	Single nucleotide variant (intron variant)	Alzheimer disease	GLikely benign
Select item 2095832	NM_000484.4(APP):c.1018G>T (p.Val340Leu)	APP (V335L +2 more)	Single nucleotide variant (missense variant +1 more)	Alzheimer disease	GUncertain significance
Select item 2083582	NM_000484.4(APP):c.1612T>C (p.Tyr538His)	APP, LOC126653330 (Y428H +6 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 2079268	NM_000484.4(APP):c.1815G>A (p.Glu605=)	APP	Single nucleotide variant (synonymous variant)	Alzheimer disease	GLikely benign
Select item 2073469	NM_000484.4(APP):c.1066C>G (p.Pro356Ala)	APP (P356A +1 more)	Single nucleotide variant (missense variant +1 more)	Alzheimer disease	GUncertain significance
Select item 2069813	NM_000484.4(APP):c.1090+5G>A	APP	Single nucleotide variant (intron variant)	Alzheimer disease	GUncertain significance
Select item 2068926	NM_000484.4(APP):c.355+12G>A	APP	Single nucleotide variant (intron variant)	Alzheimer disease	GLikely benign
Select item 2065965	NM_000484.4(APP):c.1905C>T (p.Asn635=)	APP	Single nucleotide variant (synonymous variant)	Alzheimer disease	GLikely benign
Select item 2064791	NM_000484.4(APP):c.1996A>T (p.Ile666Phe)	APP (I573F +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2062782	NM_000484.4(APP):c.510G>A (p.Met170Ile)	APP (M114I +3 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GLikely benign
Select item 2059841	NM_000484.4(APP):c.63C>A (p.Pro21=)	APP	Single nucleotide variant (synonymous variant +2 more)	Alzheimer disease	GLikely benign
Select item 2058395	NM_000484.4(APP):c.432C>T (p.Cys144=)	APP	Single nucleotide variant (synonymous variant)	Alzheimer disease	GLikely benign
Select item 2058389	NM_000484.4(APP):c.462C>T (p.Ala154=)	APP	Single nucleotide variant (synonymous variant)	Alzheimer disease	GLikely benign
Select item 2055873	NM_000484.4(APP):c.843G>A (p.Glu281=)	APP	Single nucleotide variant (synonymous variant)	Alzheimer disease	GLikely benign
Select item 2051530	NM_000484.4(APP):c.459C>T (p.Val153=)	APP	Single nucleotide variant (synonymous variant)	Alzheimer disease	GLikely benign
Select item 2051437	NM_000484.4(APP):c.634G>A (p.Gly212Arg)	APP (G156R +3 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 2050845	NM_000484.4(APP):c.226-3C>T	APP	Single nucleotide variant (intron variant)	Alzheimer disease	GUncertain significance
Select item 2050678	NM_000484.4(APP):c.1000G>C (p.Glu334Gln)	APP (E329Q +2 more)	Single nucleotide variant (missense variant +1 more)	Alzheimer disease	GUncertain significance
Select item 2050255	NM_000484.4(APP):c.205A>G (p.Ile69Val)	APP (I34V +2 more)	Single nucleotide variant (missense variant +1 more)	Alzheimer disease	GUncertain significance
Select item 2047838	NM_000484.4(APP):c.825C>T (p.Thr275=)	APP	Single nucleotide variant (synonymous variant)	Alzheimer disease	GLikely benign
Select item 2047418	NM_000484.4(APP):c.1969G>A (p.Gly657Arg)	APP (G526R +9 more)	Single nucleotide variant (missense variant)	Hereditary cerebral hemorrhage with amyloidosis +1 more	GConflicting classifications of pathogenicity
Select item 2046688	NM_000484.4(APP):c.865+11A>G	APP	Single nucleotide variant (intron variant)	Alzheimer disease	GBenign
Select item 2046085	NM_000484.4(APP):c.1680T>A (p.Asp560Glu)	APP (D485E +6 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 2045363	NM_000484.4(APP):c.2064+4C>T	APP	Single nucleotide variant (intron variant)	Alzheimer disease	GUncertain significance
Select item 2044397	NM_000484.4(APP):c.1288G>A (p.Ala430Thr)	APP (A355T +6 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 2042772	NM_000484.4(APP):c.355+11C>T	APP	Single nucleotide variant (intron variant)	Alzheimer disease +1 more	GLikely benign
Select item 2041960	NM_000484.4(APP):c.713AAG[5] (p.Glu241_Ala242insGlu)	APP	Microsatellite (inframe_insertion)	Alzheimer disease	GUncertain significance
Select item 2037098	NM_000484.4(APP):c.1909+5G>A	APP	Single nucleotide variant (intron variant)	Alzheimer disease +1 more	GConflicting classifications of pathogenicity
Select item 2036737	NM_000484.4(APP):c.2212-15C>T	APP	Single nucleotide variant (intron variant)	Alzheimer disease	GLikely benign
Select item 2032592	NM_000484.4(APP):c.309G>A (p.Lys103=)	APP	Single nucleotide variant (synonymous variant)	Alzheimer disease	GLikely benign
Select item 2025665	NM_000484.4(APP):c.1909+18C>A	APP	Single nucleotide variant (intron variant)	Alzheimer disease	GLikely benign
Select item 2009844	NM_000484.4(APP):c.663-10G>A	APP	Single nucleotide variant (intron variant)	Alzheimer disease	GLikely benign
Select item 1992127	NM_000484.4(APP):c.866-16C>A	APP	Single nucleotide variant (intron variant)	Alzheimer disease	GLikely benign
Select item 1992083	NM_000484.4(APP):c.355+8G>A	APP	Single nucleotide variant (intron variant)	Alzheimer disease	GLikely benign

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