ClinVar for Gene (Select 64283) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061582	NM_001177693.2(ARHGEF28):c.3410C>T (p.Ser1137Phe)	ARHGEF28 (S1039F +2 more)	Single nucleotide variant (missense variant)	ARHGEF28-related condition	GUncertain significance
Select item 3058812	NM_001177693.2(ARHGEF28):c.557C>T (p.Pro186Leu)	ARHGEF28 (P186L +1 more)	Single nucleotide variant (missense variant)	ARHGEF28-related condition	GLikely benign
Select item 3058758	NM_001177693.2(ARHGEF28):c.561G>T (p.Gly187=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related condition	GLikely benign
Select item 3058519	NM_001177693.2(ARHGEF28):c.1773G>A (p.Glu591=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related condition	GLikely benign
Select item 3054610	NM_001177693.2(ARHGEF28):c.645G>A (p.Val215=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related condition	GLikely benign
Select item 3054449	NM_001177693.2(ARHGEF28):c.3777T>C (p.Leu1259=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related condition	GLikely benign
Select item 3054159	NM_001177693.2(ARHGEF28):c.4142G>A (p.Arg1381His)	ARHGEF28 (R1068H +2 more)	Single nucleotide variant (missense variant)	ARHGEF28-related condition	GUncertain significance
Select item 3052229	NM_001177693.2(ARHGEF28):c.744G>A (p.Thr248=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related condition	GLikely benign
Select item 3051735	NM_001177693.2(ARHGEF28):c.2406A>G (p.Thr802=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related condition	GLikely benign
Select item 3051332	NM_001177693.2(ARHGEF28):c.840+6T>C	ARHGEF28	Single nucleotide variant (intron variant)	ARHGEF28-related condition	GLikely benign
Select item 3051247	NM_001177693.2(ARHGEF28):c.2871T>C (p.His957=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related condition	GLikely benign
Select item 3050901	NM_001177693.2(ARHGEF28):c.1058C>T (p.Pro353Leu)	ARHGEF28 (P255L +2 more)	Single nucleotide variant (missense variant)	ARHGEF28-related condition	GLikely benign
Select item 3048650	NM_001177693.2(ARHGEF28):c.2153A>C (p.Asn718Thr)	ARHGEF28 (N405T +2 more)	Single nucleotide variant (missense variant)	ARHGEF28-related condition	GLikely benign
Select item 3048588	NM_001177693.2(ARHGEF28):c.4647G>A (p.Glu1549=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related condition	GLikely benign
Select item 3047029	NM_001177693.2(ARHGEF28):c.3929C>T (p.Ala1310Val)	ARHGEF28 (A1212V +2 more)	Single nucleotide variant (missense variant)	ARHGEF28-related condition	GLikely benign
Select item 3046437	NM_001177693.2(ARHGEF28):c.3090G>A (p.Ala1030=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related condition	GLikely benign
Select item 3046202	NM_001177693.2(ARHGEF28):c.4480G>T (p.Asp1494Tyr)	ARHGEF28 (D1181Y +2 more)	Single nucleotide variant (missense variant)	ARHGEF28-related condition	GLikely benign
Select item 3045895	NM_001177693.2(ARHGEF28):c.5054G>A (p.Arg1685Lys)	ARHGEF28 (R1372K +3 more)	Single nucleotide variant (missense variant)	ARHGEF28-related condition	GLikely benign
Select item 3045727	NM_001177693.2(ARHGEF28):c.712G>A (p.Ala238Thr)	ARHGEF28 (A140T +1 more)	Single nucleotide variant (missense variant)	ARHGEF28-related condition	GUncertain significance
Select item 3045127	NM_001177693.2(ARHGEF28):c.3658+7T>C	ARHGEF28	Single nucleotide variant (intron variant)	ARHGEF28-related condition	GLikely benign
Select item 3045066	NM_001177693.2(ARHGEF28):c.2490T>C (p.Ser830=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related condition	GLikely benign
Select item 3044409	NM_001177693.2(ARHGEF28):c.36G>A (p.Gly12=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related condition	GLikely benign
Select item 3043720	NM_001177693.2(ARHGEF28):c.4307A>G (p.Glu1436Gly)	ARHGEF28 (E1123G +2 more)	Single nucleotide variant (missense variant)	ARHGEF28-related condition	GLikely benign
Select item 3043383	NM_001177693.2(ARHGEF28):c.1028G>A (p.Arg343His)	ARHGEF28 (R245H +2 more)	Single nucleotide variant (missense variant)	ARHGEF28-related condition	GLikely benign
Select item 3042936	NM_001177693.2(ARHGEF28):c.4172C>A (p.Thr1391Asn)	ARHGEF28 (T1078N +2 more)	Single nucleotide variant (missense variant)	ARHGEF28-related condition	GBenign
Select item 3042764	NM_001177693.2(ARHGEF28):c.820G>T (p.Asp274Tyr)	ARHGEF28 (D176Y +1 more)	Single nucleotide variant (missense variant)	ARHGEF28-related condition	GLikely benign
Select item 3041603	NM_001177693.2(ARHGEF28):c.1024+18212C>T	ARHGEF28	Single nucleotide variant (synonymous variant +1 more)	ARHGEF28-related condition	GBenign
Select item 3041134	NM_001177693.2(ARHGEF28):c.1011C>G (p.His337Gln)	ARHGEF28 (H239Q +1 more)	Single nucleotide variant (missense variant)	ARHGEF28-related condition	GLikely benign
Select item 3040973	NM_001177693.2(ARHGEF28):c.3632G>T (p.Arg1211Ile)	ARHGEF28 (R1113I +2 more)	Single nucleotide variant (missense variant)	ARHGEF28-related condition	GLikely benign
Select item 3039962	NM_001177693.2(ARHGEF28):c.3441T>C (p.Ala1147=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related condition	GLikely benign
Select item 3039156	NM_001177693.2(ARHGEF28):c.3082C>T (p.Arg1028Cys)	ARHGEF28 (R1028C +2 more)	Single nucleotide variant (missense variant)	ARHGEF28-related condition	GLikely benign
Select item 3039042	NM_001177693.2(ARHGEF28):c.1769C>T (p.Ser590Leu)	ARHGEF28 (S277L +2 more)	Single nucleotide variant (missense variant)	ARHGEF28-related condition	GLikely benign
Select item 3038496	NM_001177693.2(ARHGEF28):c.1747+9C>T	ARHGEF28	Single nucleotide variant (intron variant)	ARHGEF28-related condition	GLikely benign
Select item 3037973	NM_001177693.2(ARHGEF28):c.380G>C (p.Gly127Ala)	ARHGEF28 (G127A)	Single nucleotide variant (missense variant +1 more)	ARHGEF28-related condition	GLikely benign
Select item 3037031	NM_001177693.2(ARHGEF28):c.2301C>T (p.Phe767=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related condition	GLikely benign
Select item 3036910	NM_001177693.2(ARHGEF28):c.2751A>G (p.Glu917=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related condition	GLikely benign
Select item 3036842	NM_001177693.2(ARHGEF28):c.3741C>T (p.Ser1247=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related condition	GLikely benign
Select item 3036723	NM_001177693.2(ARHGEF28):c.1024+18233G>A	ARHGEF28	Single nucleotide variant (synonymous variant +1 more)	ARHGEF28-related condition	GLikely benign
Select item 3036473	NM_001177693.2(ARHGEF28):c.1503A>G (p.Pro501=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related condition	GLikely benign
Select item 3036466	NM_001177693.2(ARHGEF28):c.2190C>T (p.Ser730=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related condition	GLikely benign
Select item 3036317	NM_001177693.2(ARHGEF28):c.4347G>A (p.Gln1449=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related condition	GLikely benign
Select item 3035374	NM_001177693.2(ARHGEF28):c.1982C>T (p.Ser661Phe)	ARHGEF28 (S348F +2 more)	Single nucleotide variant (missense variant)	ARHGEF28-related condition	GLikely benign
Select item 3035175	NM_001177693.2(ARHGEF28):c.3930G>A (p.Ala1310=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related condition	GLikely benign
Select item 3033541	NM_001177693.2(ARHGEF28):c.1636-10T>C	ARHGEF28	Single nucleotide variant (intron variant)	ARHGEF28-related condition	GLikely benign
Select item 3033530	NM_001177693.2(ARHGEF28):c.1578G>A (p.Pro526=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related condition	GLikely benign
Select item 3032903	NM_001177693.2(ARHGEF28):c.3056-4G>A	ARHGEF28	Single nucleotide variant (intron variant)	ARHGEF28-related condition	GLikely benign
Select item 3032473	NM_001177693.2(ARHGEF28):c.3743G>T (p.Gly1248Val)	ARHGEF28 (G1150V +2 more)	Single nucleotide variant (missense variant)	ARHGEF28-related condition	GUncertain significance
Select item 3031873	NM_001177693.2(ARHGEF28):c.360C>T (p.Thr120=)	ARHGEF28	Single nucleotide variant (synonymous variant +1 more)	ARHGEF28-related condition	GLikely benign
Select item 3031428	NM_001177693.2(ARHGEF28):c.3768C>T (p.Pro1256=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related condition	GLikely benign
Select item 3031366	NM_001177693.2(ARHGEF28):c.4896C>T (p.Ser1632=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related condition	GLikely benign
Select item 3031201	NM_001177693.2(ARHGEF28):c.3695A>G (p.Tyr1232Cys)	ARHGEF28 (Y1134C +2 more)	Single nucleotide variant (missense variant)	ARHGEF28-related condition	GLikely benign
Select item 3030809	NM_001177693.2(ARHGEF28):c.2107T>G (p.Phe703Val)	ARHGEF28 (F390V +2 more)	Single nucleotide variant (missense variant)	ARHGEF28-related condition	GUncertain significance
Select item 3030725	NM_001177693.2(ARHGEF28):c.2152+4A>T	ARHGEF28	Single nucleotide variant (intron variant)	ARHGEF28-related condition	GLikely benign
Select item 3030518	NM_001177693.2(ARHGEF28):c.891C>T (p.Ser297=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related condition	GLikely benign
Select item 3030187	NM_001177693.2(ARHGEF28):c.2152+10G>A	ARHGEF28	Single nucleotide variant (intron variant)	ARHGEF28-related condition	GLikely benign
Select item 3029974	NM_001177693.2(ARHGEF28):c.1452C>T (p.Ala484=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related condition	GLikely benign
Select item 3029715	NM_001177693.2(ARHGEF28):c.201G>A (p.Thr67=)	ARHGEF28	Single nucleotide variant (synonymous variant +1 more)	ARHGEF28-related condition	GLikely benign
Select item 2684418	GRCh37/hg19 5q13.2-13.3(chr5:72551652-73317520)x3	ANKRA2, ARHGEF28 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2655530	NM_001177693.2(ARHGEF28):c.5019G>A (p.Ala1673=)	ARHGEF28	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2655529	NM_001177693.2(ARHGEF28):c.4623G>A (p.Ala1541=)	ARHGEF28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655528	NM_001177693.2(ARHGEF28):c.4599C>T (p.His1533=)	ARHGEF28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655527	NM_001177693.2(ARHGEF28):c.4468C>T (p.Arg1490Trp)	ARHGEF28 (R1177W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2655526	NM_001177693.2(ARHGEF28):c.2510C>A (p.Pro837His)	ARHGEF28 (P524H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2655525	NM_001177693.2(ARHGEF28):c.2061T>C (p.Asn687=)	ARHGEF28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655524	NM_001177693.2(ARHGEF28):c.771C>T (p.Ala257=)	ARHGEF28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636976	NM_001177693.2(ARHGEF28):c.3566+1G>A	ARHGEF28	Single nucleotide variant (splice donor variant)	ARHGEF28-related condition	GUncertain significance
Select item 2636254	NM_001177693.2(ARHGEF28):c.877G>A (p.Ala293Thr)	ARHGEF28 (A195T +1 more)	Single nucleotide variant (missense variant)	ARHGEF28-related condition	GUncertain significance
Select item 2636079	NM_001177693.2(ARHGEF28):c.2608A>G (p.Ile870Val)	ARHGEF28 (I557V +2 more)	Single nucleotide variant (missense variant)	ARHGEF28-related condition	GUncertain significance
Select item 2636038	NM_001177693.2(ARHGEF28):c.4113+5G>A	ARHGEF28	Single nucleotide variant (intron variant)	ARHGEF28-related condition	GUncertain significance
Select item 2636007	NM_001177693.2(ARHGEF28):c.3089C>G (p.Ala1030Gly)	ARHGEF28 (A1030G +2 more)	Single nucleotide variant (missense variant)	ARHGEF28-related condition	GUncertain significance
Select item 2635839	NM_001177693.2(ARHGEF28):c.891C>A (p.Ser297Arg)	ARHGEF28 (S199R +1 more)	Single nucleotide variant (missense variant)	ARHGEF28-related condition	GUncertain significance
Select item 2635642	NM_001177693.2(ARHGEF28):c.4391C>T (p.Ala1464Val)	ARHGEF28 (A1151V +2 more)	Single nucleotide variant (missense variant)	ARHGEF28-related condition	GUncertain significance
Select item 2634942	NM_001177693.2(ARHGEF28):c.2087C>T (p.Ala696Val)	ARHGEF28 (A383V +2 more)	Single nucleotide variant (missense variant)	ARHGEF28-related condition	GUncertain significance
Select item 2634754	NM_001177693.2(ARHGEF28):c.4048T>G (p.Leu1350Val)	ARHGEF28 (L1037V +2 more)	Single nucleotide variant (missense variant)	ARHGEF28-related condition	GUncertain significance
Select item 2634753	NM_001177693.2(ARHGEF28):c.2274T>A (p.Ser758Arg)	ARHGEF28 (S445R +2 more)	Single nucleotide variant (missense variant)	ARHGEF28-related condition	GUncertain significance
Select item 2634712	NM_001177693.2(ARHGEF28):c.3544C>T (p.Arg1182Trp)	ARHGEF28 (R1084W +2 more)	Single nucleotide variant (missense variant)	ARHGEF28-related condition	GUncertain significance
Select item 2634645	NM_001177693.2(ARHGEF28):c.622C>T (p.Arg208Cys)	ARHGEF28 (R110C +1 more)	Single nucleotide variant (missense variant)	ARHGEF28-related condition	GUncertain significance
Select item 2634511	NM_001177693.2(ARHGEF28):c.1352C>T (p.Ser451Leu)	ARHGEF28 (S138L +2 more)	Single nucleotide variant (missense variant)	ARHGEF28-related condition	GUncertain significance
Select item 2632095	NM_001177693.2(ARHGEF28):c.589G>A (p.Glu197Lys)	ARHGEF28 (E197K +1 more)	Single nucleotide variant (missense variant)	ARHGEF28-related condition	GUncertain significance
Select item 2632031	NM_001177693.2(ARHGEF28):c.3533A>G (p.Asn1178Ser)	ARHGEF28 (N1080S +2 more)	Single nucleotide variant (missense variant)	ARHGEF28-related condition	GUncertain significance
Select item 2631979	NM_001177693.2(ARHGEF28):c.2167G>C (p.Asp723His)	ARHGEF28 (D410H +2 more)	Single nucleotide variant (missense variant)	ARHGEF28-related condition	GUncertain significance
Select item 2631711	NM_001177693.2(ARHGEF28):c.4348G>A (p.Glu1450Lys)	ARHGEF28 (E1137K +2 more)	Single nucleotide variant (missense variant)	ARHGEF28-related condition	GUncertain significance
Select item 2629804	NM_001177693.2(ARHGEF28):c.5113C>T (p.Leu1705Phe)	ARHGEF28 (L1392F +3 more)	Single nucleotide variant (missense variant)	ARHGEF28-related condition	GUncertain significance
Select item 2629292	NM_001177693.2(ARHGEF28):c.1657C>T (p.Arg553Cys)	ARHGEF28 (R240C +2 more)	Single nucleotide variant (missense variant)	ARHGEF28-related condition	GUncertain significance
Select item 2629214	NM_001177693.2(ARHGEF28):c.4229T>G (p.Leu1410Arg)	ARHGEF28 (L1097R +2 more)	Single nucleotide variant (missense variant)	ARHGEF28-related condition	GUncertain significance
Select item 2629017	NM_001177693.2(ARHGEF28):c.19G>A (p.Glu7Lys)	ARHGEF28 (E7K)	Single nucleotide variant (missense variant)	ARHGEF28-related condition	GUncertain significance
Select item 2628882	NM_001177693.2(ARHGEF28):c.1024+18217C>T	ARHGEF28 (S7L)	Single nucleotide variant (missense variant +1 more)	ARHGEF28-related condition	GUncertain significance
Select item 2620417	NM_001177693.2(ARHGEF28):c.2266T>C (p.Ser756Pro)	ARHGEF28 (S443P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612943	NM_001177693.2(ARHGEF28):c.4292A>G (p.Asp1431Gly)	ARHGEF28 (D1118G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608948	NM_001177693.2(ARHGEF28):c.5073T>G (p.Asp1691Glu)	ARHGEF28 (D1593E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604348	NM_001177693.2(ARHGEF28):c.4350G>C (p.Glu1450Asp)	ARHGEF28 (E1137D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2570563	NM_001177693.2(ARHGEF28):c.4964A>C (p.His1655Pro)	ARHGEF28 (H1681P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559762	NM_001177693.2(ARHGEF28):c.1865C>A (p.Thr622Asn)	ARHGEF28 (T309N +2 more)	Single nucleotide variant (missense variant)	ARHGEF28-related condition +1 more	GUncertain significance
Select item 2558422	NM_001177693.2(ARHGEF28):c.1078G>A (p.Ala360Thr)	ARHGEF28 (A262T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538554	NM_001177693.2(ARHGEF28):c.1517C>G (p.Ser506Cys)	ARHGEF28 (S408C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537164	NM_001177693.2(ARHGEF28):c.3641A>G (p.Lys1214Arg)	ARHGEF28 (K1116R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2529224	NM_001177693.2(ARHGEF28):c.409G>A (p.Val137Met)	ARHGEF28 (V137M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525276	NM_001177693.2(ARHGEF28):c.1276G>A (p.Val426Met)	ARHGEF28 (V328M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2522050	NM_001177693.2(ARHGEF28):c.4984C>G (p.His1662Asp)	ARHGEF28 (H1662D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515712	NM_001177693.2(ARHGEF28):c.1514G>A (p.Ser505Asn)	ARHGEF28 (S192N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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