"GeneDx"[submitter] AND "ARHGEF28"[gene] - ClinVar

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Search results

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1249038	NM_001177693.2(ARHGEF28):c.-11-292T>G	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232228	NM_001177693.2(ARHGEF28):c.33+128G>A	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250963	NM_001177693.2(ARHGEF28):c.33+160G>C	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231252	NM_001177693.2(ARHGEF28):c.34-240G>C	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234878	NM_001177693.2(ARHGEF28):c.34-183A>G	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278356	NM_001177693.2(ARHGEF28):c.34-156T>C	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222419	NM_001177693.2(ARHGEF28):c.476-100C>T	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277651	NM_001177693.2(ARHGEF28):c.476-99A>G	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275929	NM_001177693.2(ARHGEF28):c.659+169A>G	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257376	NM_001177693.2(ARHGEF28):c.673T>C (p.Trp225Arg)	ARHGEF28 (W225R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 257377	NM_001177693.2(ARHGEF28):c.823A>C (p.Arg275=)	ARHGEF28	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1241453	NM_001177693.2(ARHGEF28):c.841-44G>A	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257378	NM_001177693.2(ARHGEF28):c.851C>A (p.Pro284Gln)	ARHGEF28 (P284Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1288519	NM_001177693.2(ARHGEF28):c.910+296_910+298del	ARHGEF28	Microsatellite (intron variant)	not provided	GBenign
Select item 1255217	NM_001177693.2(ARHGEF28):c.911-288A>G	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273572	NM_001177693.2(ARHGEF28):c.911-138T>G	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257379	NM_001177693.2(ARHGEF28):c.945T>C (p.Ala315=)	ARHGEF28	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1287910	NM_001177693.2(ARHGEF28):c.963+169_963+170del	ARHGEF28	Deletion (intron variant)	not provided	GBenign
Select item 1280074	NM_001177693.2(ARHGEF28):c.963+215C>T	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274771	NM_001177693.2(ARHGEF28):c.963+254A>G	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295041	NM_001177693.2(ARHGEF28):c.963+255T>C	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278374	NM_001177693.2(ARHGEF28):c.963+291T>A	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222670	NM_001177693.2(ARHGEF28):c.963+298G>A	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244210	NM_001177693.2(ARHGEF28):c.964-30T>A	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257380	NM_001177693.2(ARHGEF28):c.964-7C>T	ARHGEF28	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 257357	NM_001177693.2(ARHGEF28):c.1024+12C>T	ARHGEF28	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1274194	NM_001177693.2(ARHGEF28):c.1024+225del	ARHGEF28	Deletion (intron variant)	not provided	GBenign
Select item 1287147	NM_001177693.2(ARHGEF28):c.1024+289T>C	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230028	NM_001177693.2(ARHGEF28):c.1024+18272G>A	ARHGEF28	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1262617	NM_001177693.2(ARHGEF28):c.1025-18411del	ARHGEF28	Deletion (intron variant)	not provided	GBenign
Select item 1271905	NM_001177693.2(ARHGEF28):c.1025-315T>C	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278242	NM_001177693.2(ARHGEF28):c.1025-301A>G	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232862	NM_001177693.2(ARHGEF28):c.1146+262C>T	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183773	NM_001177693.2(ARHGEF28):c.1427+133T>G	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248634	NM_001177693.2(ARHGEF28):c.1428-267A>G	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226314	NM_001177693.2(ARHGEF28):c.1428-199C>T	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257358	NM_001177693.2(ARHGEF28):c.1631C>T (p.Ser544Leu)	ARHGEF28 (S544L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1234994	NM_001177693.2(ARHGEF28):c.1635+80A>G	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257359	NM_001177693.2(ARHGEF28):c.1680A>G (p.Ser560=)	ARHGEF28	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1252661	NM_001177693.2(ARHGEF28):c.1747+107A>G	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281934	NM_001177693.2(ARHGEF28):c.1748-181A>G	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236996	NM_001177693.2(ARHGEF28):c.1748-155C>T	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242474	NM_001177693.2(ARHGEF28):c.1748-46C>T	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257360	NM_001177693.2(ARHGEF28):c.1754G>A (p.Arg585Lys)	ARHGEF28 (R585K +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1280073	NM_001177693.2(ARHGEF28):c.1790+293A>G	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180935	NM_001177693.2(ARHGEF28):c.1790+307C>T	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235302	NM_001177693.2(ARHGEF28):c.1791-152G>A	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290592	NM_001177693.2(ARHGEF28):c.1791-91AC[9]	ARHGEF28	Microsatellite (intron variant)	not provided	GBenign
Select item 1223915	NM_001177693.2(ARHGEF28):c.1791-68T>C	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238676	NM_001177693.2(ARHGEF28):c.1914+150A>C	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287246	NM_001177693.2(ARHGEF28):c.2048-223G>A	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269765	NM_001177693.2(ARHGEF28):c.2103+33G>A	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221872	NM_001177693.2(ARHGEF28):c.2103+78A>G	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229945	NM_001177693.2(ARHGEF28):c.2104-232C>A	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239647	NM_001177693.2(ARHGEF28):c.2104-212A>G	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257362	NM_001177693.2(ARHGEF28):c.2283C>T (p.Gly761=)	ARHGEF28	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 257363	NM_001177693.2(ARHGEF28):c.2297+16=	ARHGEF28	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 257364	NM_001177693.2(ARHGEF28):c.2338C>A (p.His780Asn)	ARHGEF28 (H780N +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1259617	NM_001177693.2(ARHGEF28):c.2425+154C>A	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250598	NM_001177693.2(ARHGEF28):c.2425+209C>T	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275043	NM_001177693.2(ARHGEF28):c.2426-155dup	ARHGEF28	Duplication (intron variant)	not provided	GBenign
Select item 1244481	NM_001177693.2(ARHGEF28):c.2426-154C>A	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290826	NM_001177693.2(ARHGEF28):c.2566+320A>C	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277114	NM_001177693.2(ARHGEF28):c.2567-245G>A	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286748	NM_001177693.2(ARHGEF28):c.2815-192C>T	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287943	NM_001177693.2(ARHGEF28):c.2937+131T>G	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257366	NM_001177693.2(ARHGEF28):c.3018C>T (p.Tyr1006=)	ARHGEF28	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 257368	NM_001177693.2(ARHGEF28):c.3294T>C (p.Ala1098=)	ARHGEF28	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1281055	NM_001177693.2(ARHGEF28):c.3388-217A>C	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259691	NM_001177693.2(ARHGEF28):c.3658+32G>A	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279869	NM_001177693.2(ARHGEF28):c.3659-99T>A	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289757	NM_001177693.2(ARHGEF28):c.3659-44A>G	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282528	NM_001177693.2(ARHGEF28):c.3659-18G>C	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257369	NM_001177693.2(ARHGEF28):c.3753C>T (p.Asp1251=)	ARHGEF28	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1271004	NM_001177693.2(ARHGEF28):c.3841+246G>A	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241348	NM_001177693.2(ARHGEF28):c.3842-304G>A	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234815	NM_001177693.2(ARHGEF28):c.3842-175C>T	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296054	NM_001177693.2(ARHGEF28):c.3974-248G>A	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178825	NM_001177693.2(ARHGEF28):c.3974-199C>T	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271762	NM_001177693.2(ARHGEF28):c.3974-166A>T	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260457	NM_001177693.2(ARHGEF28):c.4074+76A>C	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275264	NM_001177693.2(ARHGEF28):c.4074+91G>A	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259855	NM_001177693.2(ARHGEF28):c.4074+292C>G	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277979	NM_001177693.2(ARHGEF28):c.4074+316C>T	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263087	NM_001177693.2(ARHGEF28):c.4075-242A>T	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257371	NM_001177693.2(ARHGEF28):c.4388G>A (p.Arg1463Gln)	ARHGEF28 (R1463Q +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 257372	NM_001177693.2(ARHGEF28):c.4622C>G (p.Ala1541Gly)	ARHGEF28 (A1541G +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 257373	NM_001177693.2(ARHGEF28):c.4642C>T (p.Pro1548Ser)	ARHGEF28 (P1548S +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1270501	NM_001177693.2(ARHGEF28):c.4648-300T>C	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254409	NM_001177693.2(ARHGEF28):c.4648-107A>G	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257374	NM_001177693.2(ARHGEF28):c.4920T>A (p.His1640Gln)	ARHGEF28 (H1640Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1232645	NM_001177693.2(ARHGEF28):c.4948+117T>C	ARHGEF28	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1259775	NM_001177693.2(ARHGEF28):c.4948+11461G>A	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257375	NM_001177693.2(ARHGEF28):c.4948+11554C>T	ARHGEF28 (P1664L)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 1248742	NM_001177693.2(ARHGEF28):c.4948+11759T>C	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 773699	NM_001177693.2(ARHGEF28):c.4960T>C (p.Ser1654Pro)	ARHGEF28 (S1680P +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign

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Items: 96