Related gene-specific medical variations for Gene (Select 351) - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3348586	NM_000484.4(APP):c.1546C>T (p.Arg516Cys)	APP, LOC126653330 (R385C +6 more)	Single nucleotide variant (missense variant)	APP-related disorder	GUncertain significance
Select item 3248140	NC_000021.8:g.(?_27347363)_(27542938_?)dup	APP	Duplication	Alzheimer disease	GUncertain significance
Select item 3234597	NM_000484.4(APP):c.1479G>C (p.Met493Ile)	APP, LOC126653330 (M362I +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2914083	NM_000484.4(APP):c.1587+6C>T	APP, LOC126653330	Single nucleotide variant (intron variant)	Alzheimer disease	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 2691466	NM_000484.4(APP):c.1549A>C (p.Met517Leu)	APP, LOC126653330 (M386L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685659	GRCh37/hg19 21q21.3(chr21:27205500-27391263)x1	APP	Copy number loss	not provided	GUncertain significance
Select item 2684330	NM_000484.4(APP):c.2005G>A (p.Val669Met)	APP (V538M +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2652574	NM_000484.4(APP):c.58-28004_58-28001del	APP, LOC126653331	Deletion (intron variant +1 more)	not provided	GUncertain significance
Select item 2439147	NM_000484.4(APP):c.724G>A (p.Ala242Thr)	APP (A186T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428584	NM_000484.4(APP):c.865+9C>T	APP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2277113	NM_000484.4(APP):c.1479G>A (p.Met493Ile)	APP, LOC126653330 (M383I +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 2136593	NM_000484.4(APP):c.1459-15A>T	APP, LOC126653330	Single nucleotide variant (intron variant)	Alzheimer disease	GLikely benign
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 1963228	NM_000484.4(APP):c.1587+14A>G	APP, LOC126653330	Single nucleotide variant (intron variant)	Alzheimer disease	GLikely benign
Select item 1809183	GRCh37/hg19 21q21.3(chr21:27288136-27397444)x3	APP	Copy number gain	not provided	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 1807237	Single allele	APP	Duplication	not provided	GUncertain significance
Select item 1807236	Single allele	APP	Duplication	not provided	GPathogenic
Select item 1706724	NM_000484.4(APP):c.1587+26T>G	APP, LOC126653330	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1594048	NM_000484.4(APP):c.1491T>C (p.Tyr497=)	APP, LOC126653330	Single nucleotide variant (synonymous variant)	Alzheimer disease	GLikely benign
Select item 1589890	NM_000484.4(APP):c.1467C>T (p.His489=)	APP, LOC126653330	Single nucleotide variant (synonymous variant)	Alzheimer disease	GLikely benign
Select item 1525891	NM_000484.4(APP):c.1462C>T (p.Arg488Cys)	APP, LOC126653330 (R432C +6 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 1412556	NM_000484.4(APP):c.1463G>A (p.Arg488His)	APP, LOC126653330 (R464H +6 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 1372949	NM_000484.4(APP):c.1580G>A (p.Arg527Gln)	APP, LOC126653330 (R417Q +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1292894	NM_000484.4(APP):c.1588-83dup	APP, LOC126653330	Duplication (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 1272547	NM_000484.4(APP):c.58-27859T>C	APP, LOC126653331	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270785	NM_000484.4(APP):c.1587+23T>C	APP, LOC126653330	Single nucleotide variant (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 1264878	NM_000484.4(APP):c.58-27773GTTT[8]	APP, LOC126653331	Microsatellite (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 1256564	NM_000484.4(APP):c.1138G>A (p.Glu380Lys)	APP (E249K +6 more)	Single nucleotide variant (missense 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 1255359	NM_000484.4(APP):c.1588-275C>T	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 1241577	NM_001136131.3(APP):c.-49+60del	APP, APP-DT	Deletion (non-coding transcript variant +1 more)	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 1234970	NM_000484.4(APP):c.58-27773GTTT[9]	APP, LOC126653331	Microsatellite (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 1183631	NM_000484.4(APP):c.58-27864T>C	LOC126653331, APP	Single nucleotide variant (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 1178502	NM_000484.4(APP):c.1588-167del	APP, LOC126653330	Deletion (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 994776	NM_000484.4(APP):c.2222_2224del (p.Ala741del)	APP (A610del +9 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 980228	GRCh37/hg19 21q21.3(chr21:27469388-27490099)x1	APP	Copy number loss	not provided	GUncertain significance
Select item 894932	NM_000484.4(APP):c.1530G>C (p.Lys510Asn)	APP, LOC126653330 (K379N +6 more)	Single nucleotide variant (missense 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 784763	NM_000484.4(APP):c.1587+7G>A	APP, LOC126653330	Single nucleotide variant (intron variant)	Alzheimer disease	GLikely benign
Select item 521455	NM_000484.4(APP):c.1505A>C (p.Gln502Pro)	APP, LOC126653330 (Q502P +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 149551	GRCh38/hg38 21q21.3(chr21:25879180-25896618)x3	APP	Copy number gain	See cases	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 98239	NM_000484.4(APP):c.2145G>A (p.Val715=)	APP	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98236	NM_000484.4(APP):c.2032G>A (p.Asp678Asn)	APP (D678N +9 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided

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Links from Gene

Items: 58