ARAP1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 2464067	NM_001040118.3(ARAP1):c.4348G>A (p.Val1450Ile)	ARAP1 (V1133I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128213	NM_001040118.3(ARAP1):c.4322C>T (p.Ala1441Val)	ARAP1 (A1124V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327198	NM_001040118.3(ARAP1):c.4277G>A (p.Arg1426Gln)	ARAP1 (R1170Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610376	NM_001040118.3(ARAP1):c.4270C>G (p.Pro1424Ala)	ARAP1 (P1107A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533445	NM_001040118.3(ARAP1):c.4229G>T (p.Arg1410Leu)	ARAP1 (R1165L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128212	NM_001040118.3(ARAP1):c.4228C>T (p.Arg1410Trp)	ARAP1 (R1154W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 770219	NM_001040118.3(ARAP1):c.4222G>A (p.Val1408Met)	ARAP1 (V1091M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2297160	NM_001040118.3(ARAP1):c.4219C>T (p.Arg1407Cys)	ARAP1 (R1151C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233970	NM_001040118.3(ARAP1):c.4173T>A (p.Phe1391Leu)	ARAP1 (F1135L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128211	NM_001040118.3(ARAP1):c.4153C>T (p.Arg1385Trp)	ARAP1 (R1129W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359463	NM_001040118.3(ARAP1):c.3965C>T (p.Pro1322Leu)	ARAP1 (P1322L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406557	NM_001040118.3(ARAP1):c.3953G>A (p.Arg1318Gln)	ARAP1 (R1012Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205891	NM_001040118.3(ARAP1):c.3952C>T (p.Arg1318Trp)	ARAP1 (R1012W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536276	NM_001040118.3(ARAP1):c.3884C>T (p.Pro1295Leu)	ARAP1 (P1295L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536275	NM_001040118.3(ARAP1):c.3883C>G (p.Pro1295Ala)	ARAP1 (P1295A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350182	NM_001040118.3(ARAP1):c.3833A>G (p.His1278Arg)	ARAP1 (H1033R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600405	NM_001040118.3(ARAP1):c.3815G>A (p.Arg1272His)	ARAP1 (R1027H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3128208	NM_001040118.3(ARAP1):c.3698G>A (p.Arg1233His)	ARAP1 (R927H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516126	NM_001040118.3(ARAP1):c.3628C>T (p.Arg1210Trp)	ARAP1 (R904W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352523	NM_001040118.3(ARAP1):c.3571A>T (p.Ile1191Phe)	ARAP1 (I885F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332424	NM_001040118.3(ARAP1):c.3568C>T (p.His1190Tyr)	ARAP1 (H1190Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465069	NM_001040118.3(ARAP1):c.3533T>C (p.Val1178Ala)	ARAP1 (V1178A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128207	NM_001040118.3(ARAP1):c.3514G>A (p.Gly1172Ser)	ARAP1 (G866S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309484	NM_001040118.3(ARAP1):c.3490A>G (p.Thr1164Ala)	ARAP1 (T1164A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128206	NM_001040118.3(ARAP1):c.3377G>A (p.Arg1126His)	ARAP1 (R1126H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374568	NM_001040118.3(ARAP1):c.3376C>T (p.Arg1126Cys)	ARAP1 (R1126C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473869	NM_001040118.3(ARAP1):c.3374G>T (p.Gly1125Val)	ARAP1 (G1125V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482669	NM_001040118.3(ARAP1):c.3226C>G (p.Pro1076Ala)	ARAP1 (P770A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128205	NM_001040118.3(ARAP1):c.3197G>C (p.Arg1066Thr)	ARAP1 (R821T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128204	NM_001040118.3(ARAP1):c.3170T>C (p.Ile1057Thr)	ARAP1 (I812T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309516	NM_001040118.3(ARAP1):c.3158A>T (p.Glu1053Val)	ARAP1 (E1053V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309525	NM_001040118.3(ARAP1):c.3142C>G (p.Arg1048Gly)	ARAP1 (R1048G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1236462	NM_001040118.3(ARAP1):c.3139C>G (p.Gln1047Glu)	ARAP1 (Q1047E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2353834	NM_001040118.3(ARAP1):c.3131C>A (p.Thr1044Asn)	ARAP1 (T1044N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786598	NM_001040118.3(ARAP1):c.3117T>G (p.Pro1039=)	ARAP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2542926	NM_001040118.3(ARAP1):c.3116C>A (p.Pro1039His)	ARAP1 (P794H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528616	NM_001040118.3(ARAP1):c.3083C>T (p.Ser1028Phe)	ARAP1 (S722F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360201	NM_001040118.3(ARAP1):c.3064C>G (p.Gln1022Glu)	ARAP1 (Q777E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621555	NM_001040118.3(ARAP1):c.3001A>G (p.Thr1001Ala)	ARAP1 (T756A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395956	NM_001040118.3(ARAP1):c.2965G>A (p.Glu989Lys)	ARAP1 (E989K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304316	NM_001040118.3(ARAP1):c.2965G>C (p.Glu989Gln)	ARAP1 (E683Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551774	NM_001040118.3(ARAP1):c.2924A>G (p.Tyr975Cys)	ARAP1 (Y730C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368593	NM_001040118.3(ARAP1):c.2920G>C (p.Val974Leu)	ARAP1 (V974L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606691	NM_001040118.3(ARAP1):c.2824T>A (p.Phe942Ile)	ARAP1 (F942I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615827	NM_001040118.3(ARAP1):c.2783G>A (p.Arg928Gln)	ARAP1 (R928Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280660	NM_001040118.3(ARAP1):c.2770G>A (p.Val924Met)	ARAP1 (V618M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410926	NM_001040118.3(ARAP1):c.2723A>G (p.Lys908Arg)	ARAP1 (K908R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516476	NM_001040118.3(ARAP1):c.2708C>T (p.Pro903Leu)	ARAP1 (P597L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365873	NM_001040118.3(ARAP1):c.2675G>A (p.Arg892His)	ARAP1 (R647H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3309495	NM_001040118.3(ARAP1):c.2666C>T (p.Ser889Leu)	ARAP1 (S583L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309424	NM_001040118.3(ARAP1):c.2666C>G (p.Ser889Trp)	ARAP1 (S644W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267127	NM_001040118.3(ARAP1):c.2591G>A (p.Arg864Gln)	ARAP1 (R864Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128201	NM_001040118.3(ARAP1):c.2590C>T (p.Arg864Trp)	ARAP1 (R619W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518052	NM_001040118.3(ARAP1):c.2578C>T (p.Arg860Trp)	ARAP1 (R860W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309506	NM_001040118.3(ARAP1):c.2567A>T (p.Asp856Val)	ARAP1 (D611V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309435	NM_001040118.3(ARAP1):c.2563G>A (p.Glu855Lys)	ARAP1 (E610K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2579707	NM_001040118.3(ARAP1):c.2522G>A (p.Trp841Ter)	ARAP1 (W535* +2 more)	Single nucleotide variant (nonsense +1 more)	Autism	GUncertain significance
Select item 739569	NM_001040118.3(ARAP1):c.2438+10C>A	ARAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2329578	NM_001040118.3(ARAP1):c.2416G>C (p.Val806Leu)	ARAP1 (V806L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237992	NM_001040118.3(ARAP1):c.2398G>A (p.Glu800Lys)	ARAP1 (E494K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128200	NM_001040118.3(ARAP1):c.2378A>G (p.Asn793Ser)	ARAP1 (N548S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521480	NM_001040118.3(ARAP1):c.2362C>T (p.Arg788Trp)	ARAP1 (R482W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264709	NM_001040118.3(ARAP1):c.2288G>A (p.Arg763His)	ARAP1, ARAP1-AS2 (R457H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242346	NM_001040118.3(ARAP1):c.2194C>A (p.Pro732Thr)	ARAP1, ARAP1-AS2 (P732T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786599	NM_001040118.3(ARAP1):c.2168-10G>A	ARAP1, ARAP1-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3128199	NM_001040118.3(ARAP1):c.2158C>G (p.Arg720Gly)	ARAP1, ARAP1-AS2 (R475G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371531	NM_001040118.3(ARAP1):c.2158C>T (p.Arg720Trp)	ARAP1, ARAP1-AS2 (R414W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380563	NM_001040118.3(ARAP1):c.2104G>A (p.Ala702Thr)	ARAP1, ARAP1-AS2 (A396T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309406	NM_001040118.3(ARAP1):c.2096C>T (p.Thr699Met)	ARAP1, ARAP1-AS2 (T699M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220039	NM_001040118.3(ARAP1):c.2039C>T (p.Ala680Val)	ARAP1, ARAP1-AS2 (A374V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128197	NM_001040118.3(ARAP1):c.1952G>A (p.Arg651His)	ARAP1, ARAP1-AS2 (R406H +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3128196	NM_001040118.3(ARAP1):c.1949G>A (p.Arg650His)	ARAP1, ARAP1-AS2 (R405H +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3128195	NM_001040118.3(ARAP1):c.1904C>G (p.Thr635Ser)	ARAP1, ARAP1-AS2 (T635S +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2351868	NM_001040118.3(ARAP1):c.1865C>T (p.Pro622Leu)	ARAP1, ARAP1-AS2 (P377L +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3128194	NM_001040118.3(ARAP1):c.1855G>C (p.Ala619Pro)	ARAP1, ARAP1-AS2 (A374P +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2352011	NM_001040118.3(ARAP1):c.1843C>T (p.Arg615Cys)	ARAP1, ARAP1-AS2 (R615C +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2274175	NM_001040118.3(ARAP1):c.1834G>A (p.Ala612Thr)	ARAP1, ARAP1-AS2 (A367T +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3309455	NM_001040118.3(ARAP1):c.1744G>A (p.Ala582Thr)	ARAP1 (A337T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388581	NM_001040118.3(ARAP1):c.1714C>T (p.Arg572Cys)	ARAP1 (R572C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478517	NM_001040118.3(ARAP1):c.1699G>T (p.Val567Phe)	ARAP1 (V567F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309465	NM_001040118.3(ARAP1):c.1615G>A (p.Glu539Lys)	ARAP1 (E294K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599935	NM_001040118.3(ARAP1):c.1514G>A (p.Arg505His)	ARAP1 (R260H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386934	NM_001040118.3(ARAP1):c.1487G>A (p.Arg496His)	ARAP1 (R251H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409353	NM_001040118.3(ARAP1):c.1484G>A (p.Arg495Gln)	ARAP1 (R495Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569668	NM_001040118.3(ARAP1):c.1483C>T (p.Arg495Trp)	ARAP1 (R250W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385806	NM_001040118.3(ARAP1):c.1459G>A (p.Val487Met)	ARAP1 (V242M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207862	NM_001040118.3(ARAP1):c.1451A>G (p.Asp484Gly)	ARAP1 (D239G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278134	NM_001040118.3(ARAP1):c.1387G>A (p.Asp463Asn)	ARAP1 (D218N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128192	NM_001040118.3(ARAP1):c.1378G>A (p.Val460Met)	ARAP1 (V215M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360464	NM_001040118.3(ARAP1):c.1354T>C (p.Phe452Leu)	ARAP1 (F207L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396715	NM_001040118.3(ARAP1):c.1327C>T (p.Arg443Cys)	ARAP1 (R443C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598616	NM_001040118.3(ARAP1):c.1271G>A (p.Arg424Gln)	ARAP1 (R179Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2642129	NM_001040118.3(ARAP1):c.1265G>A (p.Arg422His)	ARAP1 (R177H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2350845	NM_001040118.3(ARAP1):c.1108C>T (p.Arg370Cys)	ARAP1 (R125C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128189	NM_001040118.3(ARAP1):c.1061C>A (p.Thr354Asn)	ARAP1 (T109N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555802	NM_001040118.3(ARAP1):c.1032C>G (p.Ile344Met)	ARAP1 (I99M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 727323	NM_001040118.3(ARAP1):c.1017G>A (p.Pro339=)	ARAP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2265775	NM_001040118.3(ARAP1):c.995G>A (p.Gly332Asp)	ARAP1 (G332D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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