351[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 149035	GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1	KCNJ6, KCNJ6-AS1 +643 more	Copy number loss	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	LOC128849172, LOC129388418 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 236548	GRCh38/hg38 21p11.2-q21.3(chr21:13048294-27532614)	LOC125418053, LOC125418054 +219 more	Copy number loss	Monosomy 21	GPathogenic
Select item 59004	GRCh38/hg38 21q11.2-21.3(chr21:13194345-29257208)x1	ADAMTS1, ADAMTS5 +256 more	Copy number loss	See cases	GPathogenic
Select item 155682	GRCh38/hg38 21q11.2-21.3(chr21:13634137-27862841)x1	ADAMTS1, ADAMTS5 +214 more	Copy number loss	See cases	GPathogenic
Select item 236549	GRCh38/hg38 21q11.2-21.3(chr21:14000146-27785985)	HSPA13, JAM2 +209 more	Copy number loss	Monosomy 21	GPathogenic
Select item 59005	GRCh38/hg38 21q11.2-22.11(chr21:14000720-30903065)x1	ADAMTS1, ADAMTS5 +300 more	Copy number loss	See cases	GPathogenic
Select item 154063	GRCh38/hg38 21q21.1-22.11(chr21:19423169-31841150)x1	LOC130066520, LOC130066521 +213 more	Copy number loss	See cases	GPathogenic
Select item 236547	GRCh38/hg38 21q21.1-22.11(chr21:21754822-32380347)	BACH1, BACH1-IT2 +215 more	Copy number loss	Monosomy 21	GPathogenic
Select item 150018	GRCh38/hg38 21q21.1-21.3(chr21:22270514-27695129)x1	ADAMTS1, ADAMTS5 +72 more	Copy number loss	See cases	GLikely pathogenic
Select item 18104	NC_000021.9:g.(25431701_?)_(?_26466216)dup	JAM2, APP +41 more	Duplication	Alzheimer disease, early-onset, with cerebral amyloid angiopathy	GPathogenic
Select item 149551	GRCh38/hg38 21q21.3(chr21:25879180-25896618)x3	APP	Copy number gain	See cases	GUncertain significance
Select item 369359	NM_000484.3(APP):c.*1125T>G	APP	Single nucleotide variant	Early-onset autosomal dominant Alzheimer disease	GLikely benign
Select item 339619	NM_000484.4(APP):c.*1015T>G	APP	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease	GUncertain significance
Select item 339620	NM_000484.4(APP):c.*967G>A	APP	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease	GBenign
Select item 339621	NM_000484.4(APP):c.*914G>A	APP	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease	GBenign
Select item 339622	NM_000484.4(APP):c.*913C>G	APP	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease +1 more	GBenign
Select item 894856	NM_000484.4(APP):c.*810C>T	APP	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease	GUncertain significance
Select item 894857	NM_000484.4(APP):c.*738T>C	APP	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease	GLikely benign
Select item 339623	NM_000484.4(APP):c.*735G>A	APP	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease	GUncertain significance
Select item 894858	NM_000484.4(APP):c.*724C>T	APP	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease	GBenign
Select item 896305	NM_000484.4(APP):c.*663C>T	APP	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease	GLikely benign
Select item 896306	NM_000484.4(APP):c.*624A>G	APP	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 339624	NM_000484.4(APP):c.*590C>A	APP	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease	GLikely benign
Select item 896307	NM_000484.4(APP):c.*521T>C	APP	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease	GUncertain significance
Select item 896308	NM_000484.4(APP):c.*489A>G	APP	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease	GUncertain significance
Select item 896309	NM_000484.4(APP):c.*454A>G	APP	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease	GUncertain significance
Select item 896310	NM_000484.4(APP):c.*372A>G	APP	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease	GLikely benign
Select item 896311	NM_000484.4(APP):c.*356T>G	APP	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease	GUncertain significance
Select item 897920	NM_000484.4(APP):c.*355A>G	APP	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease	GUncertain significance
Select item 3358583	NM_000484.4(APP):c.*329AT[1]	APP	Microsatellite (3 prime UTR variant)	APP-related disorder	GUncertain significance
Select item 897921	NM_000484.4(APP):c.*289C>T	APP	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease	GUncertain significance
Select item 339625	NM_000484.4(APP):c.*194A>C	APP	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease	GUncertain significance
Select item 339626	NM_000484.4(APP):c.*97C>A	APP	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease	GUncertain significance
Select item 809279	NM_000484.4(APP):c.*18C>T	APP	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 897922	NM_000484.4(APP):c.*7G>A	APP	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease	GUncertain significance
Select item 1807425	NM_000484.4(APP):c.*6C>T	APP	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 1256563	NM_000484.4(APP):c.*2C>T	APP	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 1440537	NM_000484.4(APP):c.2285A>T (p.Tyr762Phe)	APP (Y631F +9 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 1498011	NM_000484.4(APP):c.2281A>G (p.Thr761Ala)	APP (T651A +9 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 1936980	NM_000484.4(APP):c.2271C>T (p.Tyr757=)	APP	Single nucleotide variant (synonymous variant)	Alzheimer disease	GLikely benign
Select item 1480877	NM_000484.4(APP):c.2267G>A (p.Gly756Asp)	APP (G646D +9 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 1305617	NM_000484.4(APP):c.2253G>C (p.Lys751Asn)	APP (K620N +9 more)	Single nucleotide variant (missense variant)	Alzheimer disease +1 more	GUncertain significance
Select item 1571568	NM_000484.4(APP):c.2241C>T (p.Arg747=)	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 1678345	NM_000484.4(APP):c.2224G>A (p.Val742Ile)	APP (V611I +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 994776	NM_000484.4(APP):c.2222_2224del (p.Ala741del)	APP (A610del +9 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 704297	NM_000484.4(APP):c.2217C>T (p.Asp739=)	APP	Single nucleotide variant (synonymous variant)	Alzheimer disease	GBenign
Select item 2682473	NM_000484.4(APP):c.2212G>A (p.Val738Ile)	APP (V607I +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1132106	NM_000484.4(APP):c.2212-9_2212-6del	APP	Deletion (intron variant)	Alzheimer disease +1 more	GConflicting classifications of pathogenicity
Select item 585433	NM_000484.4(APP):c.2212-11_2212-10del	APP	Deletion (intron variant)	Alzheimer disease +2 more	GConflicting classifications of pathogenicity
Select item 453313	NM_000484.4(APP):c.2212-12_2212-10del	APP	Deletion (intron variant)	Alzheimer disease	GLikely benign
Select item 339627	NM_000484.4(APP):c.2212-10T>C	APP	Single nucleotide variant (intron variant)	Alzheimer disease	GBenign
Select item 2036737	NM_000484.4(APP):c.2212-15C>T	APP	Single nucleotide variant (intron variant)	Alzheimer disease	GLikely benign
Select item 1190775	NM_000484.4(APP):c.2212-58T>G	APP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239619	NM_000484.4(APP):c.2212-112G>A	APP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244643	NM_000484.4(APP):c.2212-136G>A	APP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292893	NM_000484.4(APP):c.2212-197G>C	APP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270097	NM_000484.4(APP):c.2212-216C>T	APP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225201	NM_000484.4(APP):c.2212-238G>T	APP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1954484	NM_000484.4(APP):c.2211+11T>C	APP	Single nucleotide variant (intron variant)	Alzheimer disease	GLikely benign
Select item 897923	NM_000484.4(APP):c.2175G>C (p.Lys725Asn)	APP (K594N +9 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 98242	NM_000484.4(APP):c.2172G>C (p.Lys724Asn)	APP (K724N +9 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98241	NM_000484.4(APP):c.2168T>C (p.Leu723Pro)	APP (L723P +9 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 1342870	NM_000484.4(APP):c.2155A>C (p.Thr719Pro)	APP (T588P +9 more)	Single nucleotide variant (missense variant)	Alzheimer disease type 1	GLikely pathogenic
Select item 18090	NM_000484.4(APP):c.2150T>G (p.Val717Gly)	APP (V717G +9 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 18105	NM_000484.4(APP):c.2149G>C (p.Val717Leu)	APP (V717L +9 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 18089	NM_000484.4(APP):c.2149G>T (p.Val717Phe)	APP (V717F +9 more)	Single nucleotide variant (missense variant)	Alzheimer disease +2 more	GPathogenic
Select item 18088	NM_000484.4(APP):c.2149G>A (p.Val717Ile)	APP (V717I +9 more)	Single nucleotide variant (missense variant)	Alzheimer disease +3 more	GPathogenic
Select item 1298879	NM_000484.4(APP):c.2148C>G (p.Ile716Met)	APP (I585M +9 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 705044	NM_000484.4(APP):c.2148C>T (p.Ile716=)	APP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GLikely benign
Select item 585432	NM_000484.4(APP):c.2148C>A (p.Ile716=)	APP	Single nucleotide variant (synonymous variant)	Alzheimer disease +1 more	GBenign

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