"PreventionGenetics, part of Exact Sciences"[submitter] AND "APP"[gene - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1936980	NM_000484.4(APP):c.2271C>T (p.Tyr757=)	APP	Single nucleotide variant (synonymous variant)	Alzheimer disease +1 more	GLikely benign
Select item 704297	NM_000484.4(APP):c.2217C>T (p.Asp739=)	APP	Single nucleotide variant (synonymous variant)	APP-related condition +1 more	GBenign/Likely benign
Select item 453313	NM_000484.4(APP):c.2212-12_2212-10del	APP	Deletion (intron variant)	Alzheimer disease +1 more	GLikely benign
Select item 705044	NM_000484.4(APP):c.2148C>T (p.Ile716=)	APP	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 98235	NM_000484.4(APP):c.2030A>G (p.His677Arg)	APP (H677R +9 more)	Single nucleotide variant (missense variant)	APP-related condition +1 more	GConflicting classifications of pathogenicity
Select item 18093	NM_000484.4(APP):c.2010_2011inv (p.Lys670_Met671delinsAsnLeu)	APP	Inversion (missense variant)	Alzheimer disease +1 more	GPathogenic
Select item 2141602	NM_000484.4(APP):c.1980T>C (p.Asn660=)	APP	Single nucleotide variant (synonymous variant)	APP-related condition +1 more	GLikely benign
Select item 3036130	NM_000484.4(APP):c.1963+8A>C	APP	Single nucleotide variant (intron variant)	APP-related condition	GLikely benign
Select item 3031533	NM_000484.4(APP):c.1963+6A>C	APP	Single nucleotide variant (intron variant)	APP-related condition	GLikely benign
Select item 2037098	NM_000484.4(APP):c.1909+5G>A	APP	Single nucleotide variant (intron variant)	APP-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2628554	NM_000484.4(APP):c.1813G>C (p.Glu605Gln)	APP (E474Q +6 more)	Single nucleotide variant (missense variant)	APP-related condition	GUncertain significance
Select item 585430	NM_000484.4(APP):c.1795G>A (p.Glu599Lys)	APP (E599K +6 more)	Single nucleotide variant (missense variant)	Alzheimer disease +2 more	GBenign/Likely benign
Select item 2148315	NM_000484.4(APP):c.1653G>A (p.Val551=)	APP	Single nucleotide variant (synonymous variant)	APP-related condition +1 more	GLikely benign
Select item 2914083	NM_000484.4(APP):c.1587+6C>T	APP, LOC126653330	Single nucleotide variant (intron variant)	APP-related condition +1 more	GConflicting classifications of pathogenicity
Select item 446854	NM_000484.4(APP):c.1305C>T (p.Phe435=)	APP	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 3046667	NM_000484.4(APP):c.1090+3dup	APP	Duplication (intron variant)	APP-related condition	GUncertain significance
Select item 640843	NM_000484.4(APP):c.1090+4C>T	APP	Single nucleotide variant (intron variant)	Alzheimer disease +1 more	GConflicting classifications of pathogenicity
Select item 3059142	NM_000484.4(APP):c.975C>G (p.Gly325=)	APP	Single nucleotide variant (synonymous variant +1 more)	APP-related condition	GLikely benign
Select item 339641	NM_000484.4(APP):c.819CAC[8] (p.Thr280dup)	APP	Microsatellite (inframe_insertion)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 664060	NM_000484.4(APP):c.819CAC[5] (p.Thr279_Thr280del)	APP	Microsatellite (inframe_deletion)	Alzheimer disease +1 more	GUncertain significance
Select item 2633848	NM_000484.4(APP):c.826A>G (p.Thr276Ala)	APP (T220A +3 more)	Single nucleotide variant (missense variant)	APP-related condition	GUncertain significance
Select item 2633212	NM_000484.4(APP):c.803G>C (p.Arg268Thr)	APP (R212T +3 more)	Single nucleotide variant (missense variant)	APP-related condition	GUncertain significance
Select item 721913	NM_000484.4(APP):c.762A>G (p.Val254=)	APP	Single nucleotide variant (synonymous variant)	Alzheimer disease +1 more	GLikely benign
Select item 1437591	NM_000484.4(APP):c.713AAG[3] (p.Glu241del)	APP (E206del +3 more)	Microsatellite (inframe_deletion)	APP-related condition +1 more	GUncertain significance
Select item 705875	NM_000484.4(APP):c.225+7C>A	APP	Single nucleotide variant (intron variant)	Alzheimer disease +1 more	GBenign/Likely benign
Select item 3054701	NM_000484.4(APP):c.210G>T (p.Leu70=)	APP	Single nucleotide variant (synonymous variant +1 more)	APP-related condition	GLikely benign
Select item 2630138	NM_000484.4(APP):c.187A>G (p.Ile63Val)	APP (I28V +2 more)	Single nucleotide variant (missense variant +1 more)	APP-related condition	GUncertain significance
Select item 1082481	NM_000484.4(APP):c.186C>T (p.Cys62=)	APP	Single nucleotide variant (synonymous variant +1 more)	Alzheimer disease +1 more	GLikely benign
Select item 3036106	NM_000484.4(APP):c.-4C>T	APP	Single nucleotide variant (5 prime UTR variant +1 more)	APP-related condition	GLikely benign
Select item 1117397	NC_000021.9:g.26171301C>T	APP, APP-DT	Single nucleotide variant	APP-related condition +2 more	GLikely benign

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Items: 30