ClinVar for Gene (Select 351) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382968	NM_000484.4(APP):c.2059A>C (p.Lys687Gln)	APP (K556Q +9 more)	Single nucleotide variant (missense variant)	Alzheimer disease type 1 +1 more	GLikely pathogenic
Select item 3375218	NM_000484.4(APP):c.1090+1G>A	APP	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 3366468	NM_000484.4(APP):c.1920T>C (p.Val640=)	APP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3358583	NM_000484.4(APP):c.*329AT[1]	APP	Microsatellite (3 prime UTR variant)	APP-related disorder	GUncertain significance
Select item 3358540	NM_000484.4(APP):c.413A>G (p.Gln138Arg)	APP (Q103R +3 more)	Single nucleotide variant (missense variant)	APP-related disorder	GUncertain significance
Select item 3354095	NM_000484.4(APP):c.603G>A (p.Ala201=)	APP	Single nucleotide variant (synonymous variant)	APP-related disorder	GLikely benign
Select item 3351879	NM_000484.4(APP):c.1435G>T (p.Ala479Ser)	APP (A348S +6 more)	Single nucleotide variant (missense variant)	APP-related disorder	GUncertain significance
Select item 3351629	NM_000484.4(APP):c.1190G>C (p.Arg397Thr)	APP (R266T +6 more)	Single nucleotide variant (missense variant)	APP-related disorder	GUncertain significance
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 3339780	NM_000484.4(APP):c.810C>T (p.Thr270=)	APP	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3339250	NM_000484.4(APP):c.1846G>A (p.Asp616Asn)	APP (D485N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338917	NC_000021.8:g.(?_27252860)_(27543089_?)dup	APP	Duplication	Cerebral amyloid angiopathy, APP-related	GPathogenic
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 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 3254698	NM_000484.4(APP):c.752G>T (p.Gly251Val)	APP (G195V +3 more)	Single nucleotide variant (missense variant)	Cerebral amyloid angiopathy, APP-related	GUncertain significance
Select item 3248140	NC_000021.8:g.(?_27347363)_(27542938_?)dup	APP	Duplication	Alzheimer disease	GUncertain significance
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic
Select item 3238992	NM_000484.4(APP):c.453C>T (p.His151=)	APP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 3063726	NM_000484.4(APP):c.272C>A (p.Pro91Gln)	APP (P35Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	ABCG1, ADAMTS1 +201 more	Copy number gain	not specified	GPathogenic
Select item 3059142	NM_000484.4(APP):c.975C>G (p.Gly325=)	APP	Single nucleotide variant (synonymous variant +1 more)	APP-related disorder	GLikely benign
Select item 3054701	NM_000484.4(APP):c.210G>T (p.Leu70=)	APP	Single nucleotide variant (synonymous variant +1 more)	APP-related disorder	GLikely benign
Select item 3046667	NM_000484.4(APP):c.1090+3dup	APP	Duplication (intron variant)	APP-related disorder	GUncertain significance
Select item 3036130	NM_000484.4(APP):c.1963+8A>C	APP	Single nucleotide variant (intron variant)	APP-related disorder	GLikely benign
Select item 3036106	NM_000484.4(APP):c.-4C>T	APP	Single nucleotide variant (5 prime UTR variant +1 more)	APP-related disorder	GLikely benign
Select item 3031533	NM_000484.4(APP):c.1963+6A>C	APP	Single nucleotide variant (intron variant)	APP-related disorder	GLikely benign
Select item 3024044	NM_000484.4(APP):c.15G>C (p.Leu5Phe)	APP (L5F)	Single nucleotide variant (missense variant +1 more)	Alzheimer disease	GUncertain significance
Select item 2992926	NM_000484.4(APP):c.1369C>T (p.His457Tyr)	APP (H326Y +6 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 2990974	NM_000484.4(APP):c.1191G>A (p.Arg397=)	APP	Single nucleotide variant (synonymous variant)	Alzheimer disease	GLikely benign
Select item 2984773	NM_000484.4(APP):c.1750C>G (p.Pro584Ala)	APP (P453A +6 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 2981605	NM_000484.4(APP):c.781C>T (p.Pro261Ser)	APP (P261S +3 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 2966107	NM_000484.4(APP):c.1416C>T (p.Ala472=)	APP	Single nucleotide variant (synonymous variant)	Alzheimer disease	GLikely benign
Select item 2959122	NM_000484.4(APP):c.102T>C (p.Ile34=)	APP	Single nucleotide variant (synonymous variant +2 more)	Alzheimer disease	GLikely benign
Select item 2914083	NM_000484.4(APP):c.1587+6C>T	APP, LOC126653330	Single nucleotide variant (intron variant)	Alzheimer disease	GUncertain significance
Select item 2911288	NM_000484.4(APP):c.419G>C (p.Arg140Thr)	APP (R135T +3 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 2909097	NM_000484.4(APP):c.226-6T>C	APP	Single nucleotide variant (intron variant)	Alzheimer disease	GLikely benign
Select item 2907970	NM_000484.4(APP):c.563C>T (p.Pro188Leu)	APP (P153L +3 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 2904917	NM_000484.4(APP):c.1910-18C>T	APP	Single nucleotide variant (intron variant)	Alzheimer disease	GLikely benign
Select item 2904777	NM_000484.4(APP):c.1926C>T (p.Ala642=)	APP	Single nucleotide variant (synonymous variant +1 more)	Alzheimer disease	GLikely benign
Select item 2903084	NM_000484.4(APP):c.2046A>G (p.Glu682=)	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 2891584	NM_000484.4(APP):c.1569C>T (p.Ala523=)	APP, LOC126653330	Single nucleotide variant (synonymous variant)	Alzheimer disease	GLikely benign
Select item 2890099	NM_000484.4(APP):c.565C>T (p.Leu189=)	APP	Single nucleotide variant (synonymous variant)	Alzheimer disease	GLikely benign
Select item 2888607	NM_000484.4(APP):c.1646A>G (p.Tyr549Cys)	APP (Y525C +6 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 2884834	NM_000484.4(APP):c.1366A>G (p.Thr456Ala)	APP (T437A +6 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 2883197	NM_000484.4(APP):c.2065-17_2065-15del	APP	Deletion (intron variant)	Alzheimer disease	GLikely benign
Select item 2869416	NM_000484.4(APP):c.828C>A (p.Thr276=)	APP	Single nucleotide variant (synonymous variant)	Alzheimer disease	GLikely benign
Select item 2865931	NM_000484.4(APP):c.879A>G (p.Glu293=)	APP	Single nucleotide variant (synonymous variant +1 more)	Alzheimer disease	GLikely benign
Select item 2856224	NM_000484.4(APP):c.2010G>A (p.Lys670=)	APP	Single nucleotide variant (synonymous variant)	Alzheimer disease	GLikely benign
Select item 2845699	NM_000484.4(APP):c.1034-4A>G	APP	Single nucleotide variant (intron variant)	Alzheimer disease	GLikely benign
Select item 2833442	NM_000484.4(APP):c.57+15T>C	APP	Single nucleotide variant (intron variant)	Alzheimer disease	GLikely benign
Select item 2793300	NM_000484.4(APP):c.534G>T (p.Lys178Asn)	APP (K178N +3 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 2771961	NM_000484.4(APP):c.1345G>A (p.Glu449Lys)	APP (E339K +6 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 2771826	NM_000484.4(APP):c.1824C>T (p.Pro608=)	APP	Single nucleotide variant (synonymous variant)	Alzheimer disease	GLikely benign
Select item 2769977	NM_000484.4(APP):c.581A>G (p.Asp194Gly)	APP (D159G +3 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GBenign
Select item 2751464	NM_000484.4(APP):c.1021_1033+438del	APP	Deletion (intron variant +1 more)	Alzheimer disease	GUncertain significance
Select item 2742493	NM_000484.4(APP):c.24C>T (p.Leu8=)	APP	Single nucleotide variant (synonymous variant +1 more)	Alzheimer disease	GLikely benign
Select item 2742324	NM_000484.4(APP):c.305G>A (p.Arg102His)	APP (R102H +3 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GLikely benign
Select item 2728272	NM_000484.4(APP):c.2047G>A (p.Val683Ile)	APP (V665I +9 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 2724746	NM_000484.4(APP):c.1770C>T (p.Asn590=)	APP	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2713445	NM_000484.4(APP):c.1091-20_1091-18del	APP	Microsatellite (intron variant)	Alzheimer disease	GLikely benign
Select item 2691582	NM_000484.4(APP):c.378C>T (p.Ala126=)	APP	Single nucleotide variant (synonymous variant)	not specified	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 2684913	GRCh37/hg19 21q21.1-21.3(chr21:21437700-30474088)x3	ADAMTS1, ADAMTS5 +14 more	Copy number gain	not provided	GPathogenic
Select item 2684912	GRCh37/hg19 21q21.1-22.11(chr21:20408138-32852758)x3	N6AMT1, NCAM2 +52 more	Copy number gain	not provided	GPathogenic
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	CLDN14, CLDN17 +170 more	Copy number gain	not provided	GPathogenic
Select item 2684335	NM_000484.4(APP):c.819CAC[6] (p.Thr280del)	APP (T224del +3 more)	Microsatellite (inframe_deletion)	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 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 2652574	NM_000484.4(APP):c.58-28004_58-28001del	APP, LOC126653331	Deletion (intron variant +1 more)	not provided	GUncertain significance
Select item 2637690	NM_000484.4(APP):c.-516C>G	APP, APP-DT	Single nucleotide variant	not specified	GUncertain significance
Select item 2637615	NM_000484.4(APP):c.433G>A (p.Glu145Lys)	APP (E110K +3 more)	Single nucleotide variant (missense variant)	Alzheimer disease +1 more	GUncertain significance
Select item 2637480	NM_000484.4(APP):c.356-19T>G	APP	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2633848	NM_000484.4(APP):c.826A>G (p.Thr276Ala)	APP (T220A +3 more)	Single nucleotide variant (missense variant)	APP-related disorder	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 disorder	GUncertain significance
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 disorder	GUncertain significance
Select item 2628554	NM_000484.4(APP):c.1813G>C (p.Glu605Gln)	APP (E474Q +6 more)	Single nucleotide variant (missense variant)	APP-related disorder	GUncertain significance
Select item 2628367	NM_000484.4(APP):c.2061A>C (p.Lys687Asn)	APP (K556N +9 more)	Single nucleotide variant (missense variant)	Cerebral amyloid angiopathy, APP-related +1 more	GLikely pathogenic
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 2578912	NM_000484.4(APP):c.45T>G (p.Ala15=)	APP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2578028	NM_000484.4(APP):c.1300-11T>G	APP	Single nucleotide variant (intron variant)	Alzheimer disease type 1	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
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 2498894	NM_000484.4(APP):c.2146A>T (p.Ile716Phe)	APP (I585F +9 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2498191	NM_000484.4:c.226-7082_355+12976del	APP	Deletion	Familial focal epilepsy with variable foci	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 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 2423147	NC_000021.8:g.(?_27113910)_(27542938_?)dup	APP, GABPA	Duplication	Alzheimer disease	GPathogenic
Select item 2421424	NM_000484.4(APP):c.963C>T (p.Tyr321=)	APP	Single nucleotide variant (synonymous variant +1 more)	Alzheimer disease	GLikely benign
Select item 2420342	NM_000484.4(APP):c.1963+18C>T	APP	Single nucleotide variant (intron variant)	Alzheimer disease	GLikely benign
Select item 2419835	NM_000484.4(APP):c.355+16G>C	APP	Single nucleotide variant (intron variant)	Alzheimer disease	GLikely benign
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 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

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