ClinVar for Gene (Select 80728) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3312291	NM_025251.3(ARHGAP39):c.1016G>C (p.Gly339Ala)	ARHGAP39 (G339A)	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 3312289	NM_025251.3(ARHGAP39):c.2273G>A (p.Arg758Gln)	ARHGAP39 (R758Q)	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 3312286	NM_025251.3(ARHGAP39):c.472C>T (p.Arg158Trp)	ARHGAP39 (R158W)	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 3312284	NM_025251.3(ARHGAP39):c.913C>A (p.Arg305Ser)	ARHGAP39 (R305S)	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 3312273	NM_025251.3(ARHGAP39):c.1151G>T (p.Ser384Ile)	ARHGAP39 (S384I)	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 3312252	NM_025251.3(ARHGAP39):c.1672C>T (p.Arg558Trp)	ARHGAP39 (R558W)	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 3312231	NM_025251.3(ARHGAP39):c.1052G>A (p.Arg351His)	ARHGAP39 (R351H)	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 3242323	GRCh37/hg19 8q24.3(chr8:145033578-146296885)x3	ADCK5, ARHGAP39 +44 more	Copy number gain	not provided	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 3128831	NM_025251.3(ARHGAP39):c.796T>A (p.Phe266Ile)	ARHGAP39 (F266I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128830	NM_025251.3(ARHGAP39):c.721C>T (p.Arg241Cys)	ARHGAP39 (R241C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128829	NM_025251.3(ARHGAP39):c.395G>A (p.Arg132His)	ARHGAP39 (R132H)	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 3128826	NM_025251.3(ARHGAP39):c.2011A>G (p.Ser671Gly)	ARHGAP39 (S671G)	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 3128824	NM_025251.3(ARHGAP39):c.1361C>T (p.Pro454Leu)	ARHGAP39 (P454L)	Single nucleotide variant (missense variant)	not specified	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 3128821	NM_025251.3(ARHGAP39):c.11C>G (p.Thr4Arg)	ARHGAP39 (T4R)	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 3063034	GRCh37/hg19 8q24.3(chr8:144090414-145900544)x3	ADCK5, ARHGAP39 +63 more	Copy number gain	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3063006	GRCh37/hg19 8q24.3(chr8:145738467-146076759)x3	ARHGAP39, C8orf82 +9 more	Copy number gain	not specified	GUncertain significance
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	NRBP2, NSMCE2 +173 more	Copy number gain	not provided	GPathogenic
Select item 2684562	GRCh37/hg19 8q24.3(chr8:145080420-146258478)x3	ADCK5, ARHGAP39 +40 more	Copy number gain	not provided	GUncertain significance
Select item 2684556	GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3	ADCK5, ADGRB1 +95 more	Copy number gain	not provided	GPathogenic
Select item 2658999	NM_025251.3(ARHGAP39):c.57G>A (p.Ser19=)	ARHGAP39	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2617339	NM_025251.3(ARHGAP39):c.1943A>G (p.Tyr648Cys)	ARHGAP39 (Y648C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2605903	NM_025251.3(ARHGAP39):c.2017G>A (p.Val673Ile)	ARHGAP39 (V673I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2602057	NM_025251.3(ARHGAP39):c.1312G>T (p.Asp438Tyr)	ARHGAP39 (D438Y)	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 2592347	NM_025251.3(ARHGAP39):c.928C>A (p.Pro310Thr)	ARHGAP39 (P310T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591152	NM_025251.3(ARHGAP39):c.81G>C (p.Arg27=)	ARHGAP39	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2590667	NM_025251.3(ARHGAP39):c.389T>G (p.Val130Gly)	ARHGAP39 (V130G)	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 2559877	NM_025251.3(ARHGAP39):c.1130A>C (p.Lys377Thr)	ARHGAP39 (K377T)	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 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 2543196	NM_025251.3(ARHGAP39):c.2380G>A (p.Glu794Lys)	ARHGAP39 (E794K)	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 2532874	NM_025251.3(ARHGAP39):c.359C>T (p.Ala120Val)	ARHGAP39 (A120V)	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 2526202	NM_025251.3(ARHGAP39):c.995T>C (p.Val332Ala)	ARHGAP39 (V332A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517882	NM_025251.3(ARHGAP39):c.541A>G (p.Lys181Glu)	ARHGAP39 (K181E)	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 2511114	NM_025251.3(ARHGAP39):c.251A>G (p.Asn84Ser)	ARHGAP39 (N84S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2493121	NM_025251.3(ARHGAP39):c.395G>T (p.Arg132Leu)	ARHGAP39 (R132L)	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 2480800	NM_025251.3(ARHGAP39):c.1774C>T (p.Pro592Ser)	ARHGAP39 (P592S)	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 2462217	NM_025251.3(ARHGAP39):c.1382C>T (p.Pro461Leu)	ARHGAP39 (P461L)	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 2457087	NM_025251.3(ARHGAP39):c.122G>A (p.Arg41His)	ARHGAP39 (R41H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425051	NC_000008.10:g.(?_145741748)_(145958266_?)del	ARHGAP39, C8orf82 +4 more	Deletion	Baller-Gerold syndrome	GPathogenic
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 2400094	NM_025251.3(ARHGAP39):c.458C>T (p.Pro153Leu)	ARHGAP39 (P153L)	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 2399564	NM_025251.3(ARHGAP39):c.1883C>G (p.Pro628Arg)	ARHGAP39 (P628R)	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 2390618	NM_025251.3(ARHGAP39):c.1040G>A (p.Arg347Gln)	ARHGAP39 (R347Q)	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 2378998	NM_025251.3(ARHGAP39):c.43G>C (p.Asp15His)	ARHGAP39 (D15H)	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 2364725	NM_025251.3(ARHGAP39):c.743G>C (p.Ser248Thr)	ARHGAP39 (S248T)	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
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 2354290	NM_025251.3(ARHGAP39):c.1034C>T (p.Pro345Leu)	ARHGAP39 (P345L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353516	NM_025251.3(ARHGAP39):c.706G>A (p.Gly236Ser)	ARHGAP39 (G236S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2338959	NM_025251.3(ARHGAP39):c.560G>A (p.Arg187Gln)	ARHGAP39 (R187Q)	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 2306289	NM_025251.3(ARHGAP39):c.2408G>T (p.Arg803Leu)	ARHGAP39 (R803L)	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 2281267	NM_025251.3(ARHGAP39):c.1331A>G (p.Lys444Arg)	ARHGAP39 (K444R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2276669	NM_025251.3(ARHGAP39):c.721C>G (p.Arg241Gly)	ARHGAP39 (R241G)	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 2268314	NM_025251.3(ARHGAP39):c.382A>G (p.Ser128Gly)	ARHGAP39 (S128G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265393	NM_025251.3(ARHGAP39):c.25T>C (p.Cys9Arg)	ARHGAP39 (C9R)	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 2262603	NM_025251.3(ARHGAP39):c.639G>A (p.Met213Ile)	ARHGAP39 (M213I)	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 2244189	NM_025251.3(ARHGAP39):c.1472C>G (p.Thr491Arg)	ARHGAP39 (T491R)	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 2232160	NM_025251.3(ARHGAP39):c.2764G>A (p.Ala922Thr)	ARHGAP39 (A891T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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