ARHGEF28[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 344

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 1249038	NM_001177693.2(ARHGEF28):c.-11-292T>G	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2629017	NM_001177693.2(ARHGEF28):c.19G>A (p.Glu7Lys)	ARHGEF28 (E7K)	Single nucleotide variant (missense variant)	ARHGEF28-related disorder	GUncertain significance
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 3044409	NM_001177693.2(ARHGEF28):c.36G>A (p.Gly12=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related disorder	GLikely benign
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 2511392	NM_001177693.2(ARHGEF28):c.133A>G (p.Met45Val)	ARHGEF28, LOC123497908 (M45V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 713965	NM_001177693.2(ARHGEF28):c.200C>T (p.Thr67Met)	ARHGEF28 (T67M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3029715	NM_001177693.2(ARHGEF28):c.201G>A (p.Thr67=)	ARHGEF28	Single nucleotide variant (synonymous variant +1 more)	ARHGEF28-related disorder	GLikely benign
Select item 2245547	NM_001177693.2(ARHGEF28):c.250A>G (p.Met84Val)	ARHGEF28 (M84V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258392	NM_001177693.2(ARHGEF28):c.265G>C (p.Val89Leu)	ARHGEF28 (V89L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 257365	NM_001177693.2(ARHGEF28):c.267G>A (p.Val89=)	ARHGEF28	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
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 257367	NM_001177693.2(ARHGEF28):c.315G>T (p.Thr105=)	ARHGEF28	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 809767	NM_001177693.2(ARHGEF28):c.323A>G (p.Asn108Ser)	ARHGEF28 (N108S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 3031873	NM_001177693.2(ARHGEF28):c.360C>T (p.Thr120=)	ARHGEF28	Single nucleotide variant (synonymous variant +1 more)	ARHGEF28-related disorder	GLikely benign
Select item 2467825	NM_001177693.2(ARHGEF28):c.374C>T (p.Thr125Met)	ARHGEF28 (T125M)	Single nucleotide variant (missense variant +1 more)	not specified	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 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 713966	NM_001177693.2(ARHGEF28):c.384A>G (p.Ala128=)	ARHGEF28	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2529224	NM_001177693.2(ARHGEF28):c.409G>A (p.Val137Met)	ARHGEF28 (V137M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364878	NM_001177693.2(ARHGEF28):c.442G>A (p.Glu148Lys)	ARHGEF28 (E148K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 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 2632095	NM_001177693.2(ARHGEF28):c.589G>A (p.Glu197Lys)	ARHGEF28 (E197K +1 more)	Single nucleotide variant (missense variant)	ARHGEF28-related disorder +1 more	GUncertain significance
Select item 730930	NM_001177693.2(ARHGEF28):c.603A>G (p.Thr201=)	ARHGEF28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2634645	NM_001177693.2(ARHGEF28):c.622C>T (p.Arg208Cys)	ARHGEF28 (R110C +1 more)	Single nucleotide variant (missense variant)	ARHGEF28-related disorder	GUncertain significance
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 1275929	NM_001177693.2(ARHGEF28):c.659+169A>G	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 2334878	NM_001177693.2(ARHGEF28):c.688T>C (p.Ser230Pro)	ARHGEF28 (S230P +1 more)	Single nucleotide variant (missense variant)	not specified	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 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 2454465	NM_001177693.2(ARHGEF28):c.743C>T (p.Thr248Met)	ARHGEF28 (T248M +1 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 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 2655524	NM_001177693.2(ARHGEF28):c.771C>T (p.Ala257=)	ARHGEF28	Single nucleotide variant (synonymous variant)	not provided	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 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 257377	NM_001177693.2(ARHGEF28):c.823A>C (p.Arg275=)	ARHGEF28	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
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 3051332	NM_001177693.2(ARHGEF28):c.840+6T>C	ARHGEF28	Single nucleotide variant (intron variant)	ARHGEF28-related disorder	GLikely benign
Select item 1209877	NM_001177693.2(ARHGEF28):c.840+9A>G	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3351651	NM_001177693.2(ARHGEF28):c.840+10T>C	ARHGEF28	Single nucleotide variant (intron variant)	ARHGEF28-related disorder	GLikely benign
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 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 2234445	NM_001177693.2(ARHGEF28):c.872G>A (p.Arg291Lys)	ARHGEF28 (R291K +1 more)	Single nucleotide variant (missense variant)	not specified	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 disorder	GUncertain significance
Select item 3030518	NM_001177693.2(ARHGEF28):c.891C>T (p.Ser297=)	ARHGEF28	Single nucleotide variant (synonymous variant)	ARHGEF28-related disorder	GLikely benign
Select item 2635839	NM_001177693.2(ARHGEF28):c.891C>A (p.Ser297Arg)	ARHGEF28 (S199R +1 more)	Single nucleotide variant (missense variant)	ARHGEF28-related disorder	GUncertain significance
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 736714	NM_001177693.2(ARHGEF28):c.933C>T (p.Ser311=)	ARHGEF28	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 791999	NM_001177693.2(ARHGEF28):c.951G>A (p.Lys317=)	ARHGEF28	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3353189	NM_001177693.2(ARHGEF28):c.957_963+16delinsCG	ARHGEF28	Indel (splice donor variant)	ARHGEF28-related disorder	GUncertain significance
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 733347	NM_001177693.2(ARHGEF28):c.964C>T (p.Arg322Cys)	ARHGEF28 (R322C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2212943	NM_001177693.2(ARHGEF28):c.965G>A (p.Arg322His)	ARHGEF28 (R322H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 3041603	NM_001177693.2(ARHGEF28):c.1024+18212C>T	ARHGEF28	Single nucleotide variant (synonymous variant +1 more)	ARHGEF28-related disorder	GBenign
Select item 2628882	NM_001177693.2(ARHGEF28):c.1024+18217C>T	ARHGEF28 (S7L)	Single nucleotide variant (missense variant +1 more)	ARHGEF28-related disorder	GUncertain significance
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 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 2364571	NM_001177693.2(ARHGEF28):c.1027C>T (p.Arg343Cys)	ARHGEF28 (R245C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2558422	NM_001177693.2(ARHGEF28):c.1078G>A (p.Ala360Thr)	ARHGEF28 (A262T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297148	NM_001177693.2(ARHGEF28):c.1098G>A (p.Met366Ile)	ARHGEF28 (M268I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1232862	NM_001177693.2(ARHGEF28):c.1146+262C>T	ARHGEF28	Single nucleotide variant (intron variant)	not provided	GBenign
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 2497724	NM_001177693.2(ARHGEF28):c.1220G>A (p.Cys407Tyr)	ARHGEF28 (C309Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2319202	NM_001177693.2(ARHGEF28):c.1270C>T (p.Pro424Ser)	ARHGEF28 (P424S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 4