"GeneDx"[submitter] AND "APP"[gene] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59004	GRCh38/hg38 21q11.2-21.3(chr21:13194345-29257208)x1	ADAMTS1, ADAMTS5 +256 more	Copy number loss	See cases	GPathogenic
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 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 339628	NM_000484.4(APP):c.2133C>A (p.Val711=)	APP	Single nucleotide variant (synonymous variant)	Alzheimer disease +1 more	GBenign/Likely benign
Select item 1292895	NM_000484.4(APP):c.2065-180_2065-179del	APP	Deletion (intron variant)	not provided	GBenign
Select item 1238808	NM_000484.4(APP):c.2065-179del	APP	Deletion (intron variant)	not provided	GBenign
Select item 1315088	NM_000484.4(APP):c.2011A>T (p.Met671Leu)	APP (M540L +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 18095	NM_000484.4(APP):c.1995G>C (p.Glu665Asp)	APP (E665D +9 more)	Single nucleotide variant (missense variant)	Alzheimer disease +1 more	GUncertain significance
Select item 1409975	NM_000484.4(APP):c.1978A>T (p.Asn660Tyr)	APP (N604Y +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1237375	NM_000484.4(APP):c.1964-264A>G	APP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202533	NM_000484.4(APP):c.1963+96A>T	APP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221397	NM_000484.4(APP):c.1910-160T>A	APP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206618	NM_000484.4(APP):c.1910-198G>C	APP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288012	NM_000484.4(APP):c.1910-217G>A	APP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223999	NM_000484.4(APP):c.1688-119C>T	APP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296695	NM_000484.4(APP):c.1687+263G>A	APP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180390	NM_000484.4(APP):c.1687+244A>C	APP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292107	NM_000484.4(APP):c.1687+148A>T	APP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250428	NM_000484.4(APP):c.1687+94A>T	APP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249693	NM_000484.4(APP):c.1687+45C>T	APP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1307352	NM_000484.4(APP):c.1651G>A (p.Val551Met)	APP (V420M +6 more)	Single nucleotide variant (missense variant)	Alzheimer disease +1 more	GUncertain significance
Select item 339636	NM_000484.4(APP):c.1614T>C (p.Tyr538=)	APP	Single nucleotide variant (synonymous variant)	Alzheimer disease +1 more	GBenign
Select item 1292894	NM_000484.4(APP):c.1588-83dup	APP, LOC126653330	Duplication (intron variant)	not provided	GBenign
Select item 1238118	NM_000484.4(APP):c.1588-97C>T	APP, LOC126653330	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178502	NM_000484.4(APP):c.1588-167del	APP, LOC126653330	Deletion (intron variant)	not provided	GBenign
Select item 1290089	NM_000484.4(APP):c.1588-184del	APP, LOC126653330	Deletion (intron variant)	not provided	GBenign
Select item 1267631	NM_000484.4(APP):c.1588-245del	APP, LOC126653330	Deletion (intron variant)	not provided	GBenign
Select item 1178906	NM_000484.4(APP):c.1588-269del	APP, LOC126653330	Deletion (intron variant)	not provided	GBenign
Select item 1255359	NM_000484.4(APP):c.1588-275C>T	APP, LOC126653330	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229347	NM_000484.4(APP):c.1587+79C>G	APP, LOC126653330	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706724	NM_000484.4(APP):c.1587+26T>G	APP, LOC126653330	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270785	NM_000484.4(APP):c.1587+23T>C	APP, LOC126653330	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250029	NM_000484.4(APP):c.1459-106A>G	APP, LOC126653330	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233067	NM_000484.4(APP):c.1459-166A>G	APP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189588	NM_000484.4(APP):c.1299+229C>T	APP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 450260	NM_000484.4(APP):c.1299+4A>G	APP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1233599	NM_000484.4(APP):c.1225-31T>C	APP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707144	NM_000484.4(APP):c.1225-45G>T	APP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292636	NM_000484.4(APP):c.1225-106T>C	APP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278640	NM_000484.4(APP):c.1225-119A>C	APP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244797	NM_000484.4(APP):c.1225-263G>A	APP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706668	NM_000484.4(APP):c.1224+54G>T	APP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292634	NM_000484.4(APP):c.1091-227A>G	APP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269107	NM_000484.4(APP):c.1090+266A>G	APP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231596	NM_000484.4(APP):c.1090+194=	APP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 391496	NM_000484.4(APP):c.1076G>C (p.Arg359Pro)	APP (R359P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1205136	NM_000484.4(APP):c.1034-107G>A	APP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 896374	NM_000484.4(APP):c.982C>T (p.Arg328Trp)	APP (R323W +2 more)	Single nucleotide variant (missense variant +1 more)	Alzheimer disease +2 more	GConflicting classifications of pathogenicity
Select item 1269837	NM_000484.4(APP):c.866-196C>G	APP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278138	NM_000484.4(APP):c.865+126G>T	APP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 704999	NM_000484.4(APP):c.826A>T (p.Thr276Ser)	APP (T241S +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1223250	NM_000484.4(APP):c.663-110T>C	APP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214709	NM_000484.4(APP):c.663-238A>G	APP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228014	NM_000484.4(APP):c.662+185G>A	APP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 339645	NM_000484.4(APP):c.592T>C (p.Ser198Pro)	APP (S198P +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1282173	NM_000484.4(APP):c.469-38T>A	APP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292891	NM_000484.4(APP):c.469-52C>A	APP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292892	NM_000484.4(APP):c.469-200_469-199insTT	APP	Insertion (intron variant)	not provided	GBenign
Select item 1249455	NM_000484.4(APP):c.468+229G>A	APP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246394	NM_000484.4(APP):c.468+51C>T	APP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233515	NM_000484.4(APP):c.356-195C>G	APP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258833	NM_000484.4(APP):c.355+196C>T	APP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219521	NM_000484.4(APP):c.58-86T>G	APP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1264878	NM_000484.4(APP):c.58-27773GTTT[8]	APP, LOC126653331	Microsatellite (intron variant)	not provided	GBenign
Select item 1234970	NM_000484.4(APP):c.58-27773GTTT[9]	APP, LOC126653331	Microsatellite (intron variant)	not provided	GBenign
Select item 1177937	NM_000484.4(APP):c.58-27857A>G	APP, LOC126653331	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272547	NM_000484.4(APP):c.58-27859T>C	APP, LOC126653331	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183631	NM_000484.4(APP):c.58-27864T>C	LOC126653331, APP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260572	NM_000484.4(APP):c.58-28119G>C	APP, LOC126653331	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 339653	NM_000484.4(APP):c.-111G>C	APP	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 339655	NM_000484.3(APP):c.-156G>C	APP	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1241577	NM_001136131.3(APP):c.-49+60del	APP, APP-DT	Deletion (non-coding transcript variant +1 more)	not provided	GBenign
Select item 253512	GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	ABCG1, ADAMTS1 +216 more	Copy number loss	See cases	GPathogenic
Select item 253403	GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	See cases	GPathogenic

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Items: 80