ClinVar for Gene (Select 64283) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358647	NM_001177693.2(ARHGEF28):c.683G>T (p.Ser228Ile)	ARHGEF28 (S130I +1 more)	Single nucleotide variant (missense variant)	ARHGEF28-related disorder	GUncertain significance
Select item 3358214	NM_001177693.2(ARHGEF28):c.2119T>C (p.Tyr707His)	ARHGEF28 (Y394H +2 more)	Single nucleotide variant (missense variant)	ARHGEF28-related disorder	GUncertain significance
Select item 3357981	NM_001177693.2(ARHGEF28):c.3276T>C (p.Leu1092=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related disorder	GLikely benign
Select item 3357846	NM_001177693.2(ARHGEF28):c.3385G>A (p.Val1129Ile)	ARHGEF28 (V1031I +2 more)	Single nucleotide variant (missense variant)	ARHGEF28-related disorder	GUncertain significance
Select item 3357786	NM_001177693.2(ARHGEF28):c.2789G>A (p.Arg930Gln)	ARHGEF28 (R617Q +2 more)	Single nucleotide variant (missense variant)	ARHGEF28-related disorder	GLikely benign
Select item 3356904	NM_001177693.2(ARHGEF28):c.352C>T (p.Leu118=)	ARHGEF28	Single nucleotide variant (synonymous variant +1 more)	ARHGEF28-related disorder	GLikely benign
Select item 3356121	NM_001177693.2(ARHGEF28):c.1450G>A (p.Ala484Thr)	ARHGEF28 (A171T +2 more)	Single nucleotide variant (missense variant)	ARHGEF28-related disorder	GUncertain significance
Select item 3355911	NM_001177693.2(ARHGEF28):c.828C>T (p.Ala276=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related disorder	GLikely benign
Select item 3355456	NM_001177693.2(ARHGEF28):c.2426-5A>G	ARHGEF28	Single nucleotide variant (intron variant)	ARHGEF28-related disorder	GLikely benign
Select item 3355225	NM_001177693.2(ARHGEF28):c.274G>A (p.Val92Met)	ARHGEF28 (V92M)	Single nucleotide variant (missense variant +1 more)	ARHGEF28-related disorder	GUncertain significance
Select item 3355163	NM_001177693.2(ARHGEF28):c.375G>A (p.Thr125=)	ARHGEF28	Single nucleotide variant (synonymous variant +1 more)	ARHGEF28-related disorder	GUncertain significance
Select item 3354622	NM_001177693.2(ARHGEF28):c.4948+11555G>A	ARHGEF28	Single nucleotide variant (synonymous variant +1 more)	ARHGEF28-related disorder	GLikely benign
Select item 3354566	NM_001177693.2(ARHGEF28):c.4959C>T (p.Thr1653=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related disorder	GLikely benign
Select item 3354138	NM_001177693.2(ARHGEF28):c.4452G>A (p.Glu1484=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related disorder	GLikely benign
Select item 3353189	NM_001177693.2(ARHGEF28):c.957_963+16delinsCG	ARHGEF28	Indel (splice donor variant)	ARHGEF28-related disorder	GUncertain significance
Select item 3352830	NM_001177693.2(ARHGEF28):c.3096C>G (p.Cys1032Trp)	ARHGEF28 (C1032W +2 more)	Single nucleotide variant (missense variant)	ARHGEF28-related disorder	GUncertain significance
Select item 3352685	NM_001177693.2(ARHGEF28):c.3137A>G (p.Asn1046Ser)	ARHGEF28 (N1046S +2 more)	Single nucleotide variant (missense variant)	ARHGEF28-related disorder	GLikely benign
Select item 3352644	NM_001177693.2(ARHGEF28):c.3244A>C (p.Ser1082Arg)	ARHGEF28 (S1082R +2 more)	Single nucleotide variant (missense variant)	ARHGEF28-related disorder	GUncertain significance
Select item 3351651	NM_001177693.2(ARHGEF28):c.840+10T>C	ARHGEF28	Single nucleotide variant (intron variant)	ARHGEF28-related disorder	GLikely benign
Select item 3351001	NM_001177693.2(ARHGEF28):c.819G>C (p.Trp273Cys)	ARHGEF28 (W175C +1 more)	Single nucleotide variant (missense variant)	ARHGEF28-related disorder	GUncertain significance
Select item 3350546	NM_001177693.2(ARHGEF28):c.4150T>C (p.Tyr1384His)	ARHGEF28 (Y1071H +2 more)	Single nucleotide variant (missense variant)	ARHGEF28-related disorder	GUncertain significance
Select item 3350305	NM_001177693.2(ARHGEF28):c.2740C>A (p.Arg914=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related disorder	GLikely benign
Select item 3349768	NM_001177693.2(ARHGEF28):c.3573T>C (p.Pro1191=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related disorder	GLikely benign
Select item 3349034	NM_001177693.2(ARHGEF28):c.4477C>G (p.Leu1493Val)	ARHGEF28 (L1180V +2 more)	Single nucleotide variant (missense variant)	ARHGEF28-related disorder	GUncertain significance
Select item 3348852	NM_001177693.2(ARHGEF28):c.698A>G (p.Gln233Arg)	ARHGEF28 (Q135R +1 more)	Single nucleotide variant (missense variant)	ARHGEF28-related disorder	GUncertain significance
Select item 3344916	NM_001177693.2(ARHGEF28):c.3552G>C (p.Gln1184His)	ARHGEF28 (Q1086H +2 more)	Single nucleotide variant (missense variant)	ARHGEF28-related disorder	GUncertain significance
Select item 3313697	NM_001177693.2(ARHGEF28):c.1190C>T (p.Thr397Ile)	ARHGEF28 (T84I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313695	NM_001177693.2(ARHGEF28):c.2249G>A (p.Gly750Glu)	ARHGEF28 (G437E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313693	NM_001177693.2(ARHGEF28):c.40A>G (p.Met14Val)	ARHGEF28 (M14V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313692	NM_001177693.2(ARHGEF28):c.5018C>T (p.Ala1673Val)	ARHGEF28 (A1575V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313689	NM_001177693.2(ARHGEF28):c.4600G>A (p.Gly1534Ser)	ARHGEF28 (G1221S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3313684	NM_001177693.2(ARHGEF28):c.2455C>T (p.Leu819Phe)	ARHGEF28 (L506F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313677	NM_001177693.2(ARHGEF28):c.3289A>G (p.Thr1097Ala)	ARHGEF28 (T1097A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313665	NM_001177693.2(ARHGEF28):c.5110T>A (p.Tyr1704Asn)	ARHGEF28 (Y1391N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3238894	NM_001177693.2(ARHGEF28):c.4835T>C (p.Leu1612Pro)	ARHGEF28 (L1299P +2 more)	Single nucleotide variant (missense variant)	Meniere disease	GUncertain significance
Select item 3129256	NM_001177693.2(ARHGEF28):c.865G>C (p.Glu289Gln)	ARHGEF28 (E191Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129255	NM_001177693.2(ARHGEF28):c.767C>T (p.Thr256Ile)	ARHGEF28 (T158I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129254	NM_001177693.2(ARHGEF28):c.670A>G (p.Arg224Gly)	ARHGEF28 (R224G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129253	NM_001177693.2(ARHGEF28):c.587A>G (p.Asn196Ser)	ARHGEF28 (N196S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129252	NM_001177693.2(ARHGEF28):c.584C>T (p.Pro195Leu)	ARHGEF28 (P195L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129251	NM_001177693.2(ARHGEF28):c.4787C>T (p.Thr1596Ile)	ARHGEF28 (T1596I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129250	NM_001177693.2(ARHGEF28):c.4462C>T (p.Arg1488Trp)	ARHGEF28 (R1390W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129249	NM_001177693.2(ARHGEF28):c.4450G>A (p.Glu1484Lys)	ARHGEF28 (E1484K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129247	NM_001177693.2(ARHGEF28):c.4202G>A (p.Arg1401Lys)	ARHGEF28 (R1088K +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3129246	NM_001177693.2(ARHGEF28):c.4196T>G (p.Ile1399Ser)	ARHGEF28 (I1399S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129245	NM_001177693.2(ARHGEF28):c.4010C>T (p.Ser1337Leu)	ARHGEF28 (S1239L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129244	NM_001177693.2(ARHGEF28):c.3883G>A (p.Ala1295Thr)	ARHGEF28 (A1197T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129243	NM_001177693.2(ARHGEF28):c.3692C>T (p.Ala1231Val)	ARHGEF28 (A1133V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129242	NM_001177693.2(ARHGEF28):c.2841G>T (p.Met947Ile)	ARHGEF28 (M849I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129241	NM_001177693.2(ARHGEF28):c.2744G>A (p.Arg915Lys)	ARHGEF28 (R602K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129240	NM_001177693.2(ARHGEF28):c.2356A>G (p.Arg786Gly)	ARHGEF28 (R473G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129239	NM_001177693.2(ARHGEF28):c.2123A>G (p.Asn708Ser)	ARHGEF28 (N610S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129238	NM_001177693.2(ARHGEF28):c.199A>T (p.Thr67Ser)	ARHGEF28 (T67S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129237	NM_001177693.2(ARHGEF28):c.1922G>A (p.Ser641Asn)	ARHGEF28 (S328N +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3129236	NM_001177693.2(ARHGEF28):c.1658G>A (p.Arg553His)	ARHGEF28 (R455H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129235	NM_001177693.2(ARHGEF28):c.1553A>G (p.Asp518Gly)	ARHGEF28 (D205G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3061582	NM_001177693.2(ARHGEF28):c.3410C>T (p.Ser1137Phe)	ARHGEF28 (S1039F +2 more)	Single nucleotide variant (missense variant)	ARHGEF28-related disorder	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 disorder	GLikely benign
Select item 3058758	NM_001177693.2(ARHGEF28):c.561G>T (p.Gly187=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related disorder	GLikely benign
Select item 3058519	NM_001177693.2(ARHGEF28):c.1773G>A (p.Glu591=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related disorder	GLikely benign
Select item 3054610	NM_001177693.2(ARHGEF28):c.645G>A (p.Val215=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related disorder	GLikely benign
Select item 3054449	NM_001177693.2(ARHGEF28):c.3777T>C (p.Leu1259=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related disorder	GLikely benign
Select item 3054159	NM_001177693.2(ARHGEF28):c.4142G>A (p.Arg1381His)	ARHGEF28 (R1068H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052229	NM_001177693.2(ARHGEF28):c.744G>A (p.Thr248=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related disorder	GLikely benign
Select item 3051735	NM_001177693.2(ARHGEF28):c.2406A>G (p.Thr802=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related disorder	GLikely benign
Select item 3051332	NM_001177693.2(ARHGEF28):c.840+6T>C	ARHGEF28	Single nucleotide variant (intron variant)	ARHGEF28-related disorder	GLikely benign
Select item 3051247	NM_001177693.2(ARHGEF28):c.2871T>C (p.His957=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related disorder	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 disorder	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 disorder	GLikely benign
Select item 3048588	NM_001177693.2(ARHGEF28):c.4647G>A (p.Glu1549=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related disorder	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 disorder	GLikely benign
Select item 3046437	NM_001177693.2(ARHGEF28):c.3090G>A (p.Ala1030=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related disorder	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 disorder	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 disorder	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 disorder	GUncertain significance
Select item 3045127	NM_001177693.2(ARHGEF28):c.3658+7T>C	ARHGEF28	Single nucleotide variant (intron variant)	ARHGEF28-related disorder	GLikely benign
Select item 3045066	NM_001177693.2(ARHGEF28):c.2490T>C (p.Ser830=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related disorder	GLikely benign
Select item 3044409	NM_001177693.2(ARHGEF28):c.36G>A (p.Gly12=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related disorder	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 disorder	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 disorder	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 disorder +1 more	GConflicting classifications of pathogenicity
Select item 3042764	NM_001177693.2(ARHGEF28):c.820G>T (p.Asp274Tyr)	ARHGEF28 (D176Y +1 more)	Single nucleotide variant (missense variant)	ARHGEF28-related disorder	GLikely benign
Select item 3041603	NM_001177693.2(ARHGEF28):c.1024+18212C>T	ARHGEF28	Single nucleotide variant (synonymous variant +1 more)	ARHGEF28-related disorder	GBenign
Select item 3041134	NM_001177693.2(ARHGEF28):c.1011C>G (p.His337Gln)	ARHGEF28 (H239Q +1 more)	Single nucleotide variant (missense variant)	ARHGEF28-related disorder	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 disorder	GLikely benign
Select item 3039962	NM_001177693.2(ARHGEF28):c.3441T>C (p.Ala1147=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related disorder	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 disorder	GLikely benign
Select item 3039042	NM_001177693.2(ARHGEF28):c.1769C>T (p.Ser590Leu)	ARHGEF28 (S277L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038496	NM_001177693.2(ARHGEF28):c.1747+9C>T	ARHGEF28	Single nucleotide variant (intron variant)	ARHGEF28-related disorder	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 disorder	GLikely benign
Select item 3037031	NM_001177693.2(ARHGEF28):c.2301C>T (p.Phe767=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related disorder	GLikely benign
Select item 3036910	NM_001177693.2(ARHGEF28):c.2751A>G (p.Glu917=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related disorder	GLikely benign
Select item 3036842	NM_001177693.2(ARHGEF28):c.3741C>T (p.Ser1247=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related disorder	GLikely benign
Select item 3036723	NM_001177693.2(ARHGEF28):c.1024+18233G>A	ARHGEF28	Single nucleotide variant (synonymous variant +1 more)	ARHGEF28-related disorder	GLikely benign
Select item 3036473	NM_001177693.2(ARHGEF28):c.1503A>G (p.Pro501=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related disorder	GLikely benign
Select item 3036466	NM_001177693.2(ARHGEF28):c.2190C>T (p.Ser730=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related disorder	GLikely benign
Select item 3036317	NM_001177693.2(ARHGEF28):c.4347G>A (p.Gln1449=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related disorder	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 disorder +1 more	GConflicting classifications of pathogenicity
Select item 3035175	NM_001177693.2(ARHGEF28):c.3930G>A (p.Ala1310=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related disorder	GLikely benign
Select item 3033541	NM_001177693.2(ARHGEF28):c.1636-10T>C	ARHGEF28	Single nucleotide variant (intron variant)	ARHGEF28-related disorder	GLikely benign

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