"Ambry Genetics"[submitter] AND "APP"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 3308761	NM_000484.4(APP):c.1828A>C (p.Asn610His)	APP (N586H +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3308759	NM_000484.4(APP):c.1815G>C (p.Glu605Asp)	APP (E495D +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 894930	NM_000484.4(APP):c.1751C>G (p.Pro584Arg)	APP (P565R +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2278133	NM_000484.4(APP):c.1693C>G (p.Leu565Val)	APP (L455V +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 2332599	NM_000484.4(APP):c.1308G>C (p.Gln436His)	APP (Q380H +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553012	NM_000484.4(APP):c.1247C>T (p.Ala416Val)	APP (A306V +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3128068	NM_000484.4(APP):c.1151A>G (p.Asp384Gly)	APP (D309G +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478421	NM_000484.4(APP):c.1061A>G (p.Gln354Arg)	APP (Q354R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3128067	NM_000484.4(APP):c.1040A>G (p.Gln347Arg)	APP (Q291R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3308768	NM_000484.4(APP):c.1016C>G (p.Ala339Gly)	APP (A334G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1028288	NM_000484.4(APP):c.917G>A (p.Arg306His)	APP (R306H +2 more)	Single nucleotide variant (missense variant +1 more)	Alzheimer disease +2 more	GConflicting classifications of pathogenicity
Select item 2602570	NM_000484.4(APP):c.787G>A (p.Glu263Lys)	APP (E258K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1973433	NM_000484.4(APP):c.584A>G (p.Asn195Ser)	APP (N190S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2327414	NM_000484.4(APP):c.93A>T (p.Glu31Asp)	APP (E26D +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2559949	NM_000484.4(APP):c.13T>G (p.Leu5Val)	APP (L5V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 21