ARHGAP39[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC130001070, LOC130001071 +962 more	Copy number gain	See cases	GPathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 148265	GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	TOP1MT, TRAPPC9 +373 more	Copy number gain	See cases	GLikely pathogenic
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	ADCK5, ADGRB1 +375 more	Copy number gain	See cases	GLikely pathogenic
Select item 57047	GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3	ADCK5, ARHGAP39 +120 more	Copy number gain	See cases	GPathogenic
Select item 144948	GRCh38/hg38 8q24.3(chr8:144264907-144668170)x1	ADCK5, ARHGAP39 +74 more	Copy number loss	See cases	GBenign
Select item 58433	GRCh38/hg38 8q24.3(chr8:144287919-144723120)x3	ADCK5, ARHGAP39 +73 more	Copy number gain	See cases	GUncertain significance
Select item 151550	GRCh38/hg38 8q24.3(chr8:144340449-144585787)x3	ADCK5, ARHGAP39 +58 more	Copy number gain	See cases	GLikely benign
Select item 58434	GRCh38/hg38 8q24.3(chr8:144375621-144605333)x3	ADCK5, ARHGAP39 +47 more	Copy number gain	See cases	GUncertain significance
Select item 152001	GRCh38/hg38 8q24.3(chr8:144468986-144535245)x3	ARHGAP39, C8orf82 +21 more	Copy number gain	See cases	GBenign
Select item 2613461	NM_025251.3(ARHGAP39):c.3256G>A (p.Val1086Ile)	ARHGAP39 (V1055I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228146	NM_025251.3(ARHGAP39):c.3179T>C (p.Val1060Ala)	ARHGAP39 (V1029A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359885	NM_025251.3(ARHGAP39):c.3140G>A (p.Arg1047His)	ARHGAP39 (R1016H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551289	NM_025251.3(ARHGAP39):c.3128G>C (p.Cys1043Ser)	ARHGAP39 (C1043S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623901	NM_025251.3(ARHGAP39):c.3116G>A (p.Arg1039His)	ARHGAP39 (R1039H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275862	NM_025251.3(ARHGAP39):c.3043G>A (p.Glu1015Lys)	ARHGAP39 (E1015K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312287	NM_025251.3(ARHGAP39):c.2974G>A (p.Val992Ile)	ARHGAP39 (V961I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232160	NM_025251.3(ARHGAP39):c.2764G>A (p.Ala922Thr)	ARHGAP39 (A891T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128828	NM_025251.3(ARHGAP39):c.2719C>T (p.Arg907Trp)	ARHGAP39 (R876W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602058	NM_025251.3(ARHGAP39):c.2648A>G (p.Tyr883Cys)	ARHGAP39 (Y883C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237033	NM_025251.3(ARHGAP39):c.2558C>G (p.Thr853Ser)	ARHGAP39 (T853S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 787883	NM_025251.3(ARHGAP39):c.2454C>T (p.Thr818=)	ARHGAP39	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2306289	NM_025251.3(ARHGAP39):c.2408G>T (p.Arg803Leu)	ARHGAP39 (R803L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543196	NM_025251.3(ARHGAP39):c.2380G>A (p.Glu794Lys)	ARHGAP39 (E794K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589506	NM_025251.3(ARHGAP39):c.2336G>C (p.Gly779Ala)	ARHGAP39 (G779A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389533	NM_025251.3(ARHGAP39):c.2329G>A (p.Val777Met)	ARHGAP39 (V777M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312289	NM_025251.3(ARHGAP39):c.2273G>A (p.Arg758Gln)	ARHGAP39 (R758Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312283	NM_025251.3(ARHGAP39):c.2212C>A (p.His738Asn)	ARHGAP39 (H738N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312282	NM_025251.3(ARHGAP39):c.2204G>A (p.Ser735Asn)	ARHGAP39 (S735N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312222	NM_025251.3(ARHGAP39):c.2197G>A (p.Val733Met)	ARHGAP39 (V733M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350662	NM_025251.3(ARHGAP39):c.2099A>G (p.Lys700Arg)	ARHGAP39 (K700R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350015	NM_025251.3(ARHGAP39):c.2030G>A (p.Ser677Asn)	ARHGAP39 (S677N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605903	NM_025251.3(ARHGAP39):c.2017G>A (p.Val673Ile)	ARHGAP39 (V673I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3128826	NM_025251.3(ARHGAP39):c.2011A>G (p.Ser671Gly)	ARHGAP39 (S671G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458702	NM_025251.3(ARHGAP39):c.1990G>A (p.Glu664Lys)	ARHGAP39 (E664K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485073	NM_025251.3(ARHGAP39):c.1985A>G (p.Gln662Arg)	ARHGAP39 (Q662R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617339	NM_025251.3(ARHGAP39):c.1943A>G (p.Tyr648Cys)	ARHGAP39 (Y648C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399564	NM_025251.3(ARHGAP39):c.1883C>G (p.Pro628Arg)	ARHGAP39 (P628R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312290	NM_025251.3(ARHGAP39):c.1793C>G (p.Pro598Arg)	ARHGAP39 (P598R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480800	NM_025251.3(ARHGAP39):c.1774C>T (p.Pro592Ser)	ARHGAP39 (P592S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312252	NM_025251.3(ARHGAP39):c.1672C>T (p.Arg558Trp)	ARHGAP39 (R558W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399779	NM_025251.3(ARHGAP39):c.1642G>A (p.Gly548Ser)	ARHGAP39 (G548S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322300	NM_025251.3(ARHGAP39):c.1634G>A (p.Gly545Glu)	ARHGAP39 (G545E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600808	NM_025251.3(ARHGAP39):c.1613G>A (p.Arg538Gln)	ARHGAP39 (R538Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402598	NM_025251.3(ARHGAP39):c.1579C>T (p.Pro527Ser)	ARHGAP39 (P527S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128825	NM_025251.3(ARHGAP39):c.1538C>T (p.Pro513Leu)	ARHGAP39 (P513L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249488	NM_025251.3(ARHGAP39):c.1534G>A (p.Gly512Ser)	ARHGAP39 (G512S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392767	NM_025251.3(ARHGAP39):c.1475G>A (p.Arg492His)	ARHGAP39 (R492H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244189	NM_025251.3(ARHGAP39):c.1472C>G (p.Thr491Arg)	ARHGAP39 (T491R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282976	NM_025251.3(ARHGAP39):c.1436A>G (p.Gln479Arg)	ARHGAP39 (Q479R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537354	NM_025251.3(ARHGAP39):c.1409A>G (p.Glu470Gly)	ARHGAP39 (E470G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312242	NM_025251.3(ARHGAP39):c.1402G>A (p.Ala468Thr)	ARHGAP39 (A468T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462217	NM_025251.3(ARHGAP39):c.1382C>T (p.Pro461Leu)	ARHGAP39 (P461L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128824	NM_025251.3(ARHGAP39):c.1361C>T (p.Pro454Leu)	ARHGAP39 (P454L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312262	NM_025251.3(ARHGAP39):c.1334C>T (p.Ser445Phe)	ARHGAP39 (S445F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281267	NM_025251.3(ARHGAP39):c.1331A>G (p.Lys444Arg)	ARHGAP39 (K444R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2209403	NM_025251.3(ARHGAP39):c.1328T>C (p.Val443Ala)	ARHGAP39 (V443A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602057	NM_025251.3(ARHGAP39):c.1312G>T (p.Asp438Tyr)	ARHGAP39 (D438Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3383210	NM_025251.3(ARHGAP39):c.1301G>T (p.Cys434Phe)	ARHGAP39 (C434F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3128823	NM_025251.3(ARHGAP39):c.1255G>C (p.Ala419Pro)	ARHGAP39 (A419P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128822	NM_025251.3(ARHGAP39):c.1244G>A (p.Arg415Gln)	ARHGAP39 (R415Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532341	NM_025251.3(ARHGAP39):c.1232G>T (p.Arg411Leu)	ARHGAP39 (R411L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513798	NM_025251.3(ARHGAP39):c.1205A>G (p.Glu402Gly)	ARHGAP39 (E402G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554034	NM_025251.3(ARHGAP39):c.1187G>A (p.Arg396Gln)	ARHGAP39 (R396Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312273	NM_025251.3(ARHGAP39):c.1151G>T (p.Ser384Ile)	ARHGAP39 (S384I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264654	NM_025251.3(ARHGAP39):c.1139A>G (p.Glu380Gly)	ARHGAP39 (E380G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312285	NM_025251.3(ARHGAP39):c.1131G>C (p.Lys377Asn)	ARHGAP39 (K377N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559877	NM_025251.3(ARHGAP39):c.1130A>C (p.Lys377Thr)	ARHGAP39 (K377T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128820	NM_025251.3(ARHGAP39):c.1093C>A (p.Pro365Thr)	ARHGAP39 (P365T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128819	NM_025251.3(ARHGAP39):c.1057C>T (p.Pro353Ser)	ARHGAP39 (P353S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312231	NM_025251.3(ARHGAP39):c.1052G>A (p.Arg351His)	ARHGAP39 (R351H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390618	NM_025251.3(ARHGAP39):c.1040G>A (p.Arg347Gln)	ARHGAP39 (R347Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354290	NM_025251.3(ARHGAP39):c.1034C>T (p.Pro345Leu)	ARHGAP39 (P345L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312291	NM_025251.3(ARHGAP39):c.1016G>C (p.Gly339Ala)	ARHGAP39 (G339A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526202	NM_025251.3(ARHGAP39):c.995T>C (p.Val332Ala)	ARHGAP39 (V332A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369218	NM_025251.3(ARHGAP39):c.965C>A (p.Ala322Asp)	ARHGAP39 (A322D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369217	NM_025251.3(ARHGAP39):c.964G>A (p.Ala322Thr)	ARHGAP39 (A322T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128833	NM_025251.3(ARHGAP39):c.931C>G (p.Pro311Ala)	ARHGAP39 (P311A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128832	NM_025251.3(ARHGAP39):c.929C>G (p.Pro310Arg)	ARHGAP39 (P310R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592347	NM_025251.3(ARHGAP39):c.928C>A (p.Pro310Thr)	ARHGAP39 (P310T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465714	NM_025251.3(ARHGAP39):c.914G>A (p.Arg305His)	ARHGAP39 (R305H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312284	NM_025251.3(ARHGAP39):c.913C>A (p.Arg305Ser)	ARHGAP39 (R305S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361085	NM_025251.3(ARHGAP39):c.875C>T (p.Pro292Leu)	ARHGAP39 (P292L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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