ClinVar for Gene (Select 9138) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341626	NM_001365103.2(ERFL):c.665G>A (p.Arg222His)	ARHGEF1, ERFL (R222H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3341602	NM_001365103.2(ERFL):c.866G>A (p.Arg289His)	ARHGEF1, ERFL (R289H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3339393	NM_004706.4(ARHGEF1):c.2211A>C (p.Ile737=)	ARHGEF1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3339386	NM_004706.4(ARHGEF1):c.*139del	ARHGEF1 (G872fs +1 more)	Deletion (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3312654	NM_004706.4(ARHGEF1):c.979C>T (p.His327Tyr)	ARHGEF1 (H327Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312643	NM_004706.4(ARHGEF1):c.1109C>G (p.Ala370Gly)	ARHGEF1 (A370G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312632	NM_004706.4(ARHGEF1):c.2558G>C (p.Gly853Ala)	ARHGEF1 (G868A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3312621	NM_004706.4(ARHGEF1):c.671T>A (p.Leu224Gln)	ARHGEF1 (L224Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312611	NM_004706.4(ARHGEF1):c.1869C>A (p.Asp623Glu)	ARHGEF1 (D679E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312600	NM_004706.4(ARHGEF1):c.244G>A (p.Asp82Asn)	ARHGEF1 (D82N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3250723	NM_004706.4(ARHGEF1):c.63C>A (p.Val21=)	ARHGEF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3242732	NC_000019.9:g.(?_42363988)_(42410938_?)dup	ARHGEF1, CD79A +1 more	Duplication	not provided	GUncertain significance
Select item 3129008	NM_004706.4(ARHGEF1):c.38C>T (p.Pro13Leu)	ARHGEF1 (P13L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129007	NM_004706.4(ARHGEF1):c.38C>G (p.Pro13Arg)	ARHGEF1 (P13R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129006	NM_004706.4(ARHGEF1):c.676A>C (p.Met226Leu)	ARHGEF1 (M226L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129005	NM_004706.4(ARHGEF1):c.448G>A (p.Val150Met)	ARHGEF1 (V117M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129004	NM_004706.4(ARHGEF1):c.2704G>C (p.Gly902Arg)	ARHGEF1 (G917R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129003	NM_004706.4(ARHGEF1):c.2309G>A (p.Arg770His)	ARHGEF1 (R770H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129002	NM_004706.4(ARHGEF1):c.1723A>G (p.Ile575Val)	ARHGEF1 (I542V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129001	NM_004706.4(ARHGEF1):c.-20+1192C>G	ARHGEF1 (S5C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3129000	NM_004706.4(ARHGEF1):c.1063A>G (p.Met355Val)	ARHGEF1 (M370V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128999	NM_004706.4(ARHGEF1):c.1058G>A (p.Gly353Asp)	ARHGEF1 (G368D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3047400	NM_004706.4(ARHGEF1):c.1566C>T (p.Ala522=)	ARHGEF1	Single nucleotide variant (synonymous variant +1 more)	ARHGEF1-related disorder	GLikely benign
Select item 3023433	NM_004706.4(ARHGEF1):c.-14C>G	ARHGEF1 (A11G)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3019070	NM_004706.4(ARHGEF1):c.1035G>A (p.Glu345=)	ARHGEF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3017194	NM_004706.4(ARHGEF1):c.1553G>A (p.Arg518His)	ARHGEF1 (R518H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3012377	NM_004706.4(ARHGEF1):c.842-15TC[2]	ARHGEF1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3009736	NM_004706.4(ARHGEF1):c.2534A>G (p.Asn845Ser)	ARHGEF1 (N901S +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3009018	NM_004706.4(ARHGEF1):c.1331A>T (p.Gln444Leu)	ARHGEF1 (Q444L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3008621	NM_004706.4(ARHGEF1):c.760C>A (p.Arg254=)	ARHGEF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3005162	NM_004706.4(ARHGEF1):c.737G>A (p.Arg246Gln)	ARHGEF1 (R213Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3002831	NM_004706.4(ARHGEF1):c.841+7C>T	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002575	NM_004706.4(ARHGEF1):c.1839+13T>C	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001786	NM_004706.4(ARHGEF1):c.112-3dup	ARHGEF1	Duplication (intron variant)	not provided	GBenign
Select item 3001441	NM_004706.4(ARHGEF1):c.1022A>G (p.Asp341Gly)	ARHGEF1 (D356G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2999512	NM_004706.4(ARHGEF1):c.338C>T (p.Pro113Leu)	ARHGEF1 (P113L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2999268	NM_004706.4(ARHGEF1):c.744+7C>T	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998147	NM_004706.4(ARHGEF1):c.479A>G (p.Lys160Arg)	ARHGEF1 (K175R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2996748	NM_004706.4(ARHGEF1):c.325-8_325-7del	ARHGEF1	Deletion (intron variant)	not provided	GLikely benign
Select item 2996625	NM_004706.4(ARHGEF1):c.745-14C>A	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995569	NM_004706.4(ARHGEF1):c.2370C>T (p.Asn790=)	ARHGEF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2994950	NM_004706.4(ARHGEF1):c.225+9A>C	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993884	NM_004706.4(ARHGEF1):c.1824C>T (p.Asp608=)	ARHGEF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2992655	NM_004706.4(ARHGEF1):c.579G>C (p.Val193=)	ARHGEF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2992538	NM_004706.4(ARHGEF1):c.1800C>T (p.His600=)	ARHGEF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2992034	NM_004706.4(ARHGEF1):c.2320C>T (p.Arg774Trp)	ARHGEF1 (R789W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2991817	NM_004706.4(ARHGEF1):c.69C>A (p.Ile23=)	ARHGEF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2991737	NM_004706.4(ARHGEF1):c.541C>T (p.Arg181Trp)	ARHGEF1 (R196W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2990720	NM_004706.4(ARHGEF1):c.1781G>A (p.Cys594Tyr)	ARHGEF1 (C650Y +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2988984	NM_004706.4(ARHGEF1):c.2425A>C (p.Ser809Arg)	ARHGEF1 (S824R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2988438	NM_004706.4(ARHGEF1):c.2697T>C (p.Ser899=)	ARHGEF1 (S845P +1 more)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2987757	NM_004706.4(ARHGEF1):c.481C>T (p.Arg161Trp)	ARHGEF1 (R161W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2987170	NM_004706.4(ARHGEF1):c.220C>A (p.Pro74Thr)	ARHGEF1 (P74T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2986542	NM_004706.4(ARHGEF1):c.1730A>G (p.Gln577Arg)	ARHGEF1 (Q544R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2984747	NM_004706.4(ARHGEF1):c.824A>G (p.Asn275Ser)	ARHGEF1 (N275S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2983520	NM_004706.4(ARHGEF1):c.2401G>T (p.Asp801Tyr)	ARHGEF1 (D816Y +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2983284	NM_004706.4(ARHGEF1):c.577G>A (p.Val193Met)	ARHGEF1 (V193M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2982970	NM_004706.4(ARHGEF1):c.24+18G>T	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982717	NM_004706.4(ARHGEF1):c.744+20G>A	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981951	NM_004706.4(ARHGEF1):c.2336+10G>A	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981371	NM_004706.4(ARHGEF1):c.842-7G>T	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981070	NM_004706.4(ARHGEF1):c.44G>A (p.Arg15Gln)	ARHGEF1 (R15Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2980817	NM_004706.4(ARHGEF1):c.548G>A (p.Arg183Gln)	ARHGEF1 (R183Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2979444	NM_004706.4(ARHGEF1):c.112-4C>T	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978915	NM_004706.4(ARHGEF1):c.2424C>T (p.Leu808=)	ARHGEF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2978708	NM_004706.4(ARHGEF1):c.243C>T (p.Ala81=)	ARHGEF1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2978258	NM_004706.4(ARHGEF1):c.1994-9G>A	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978130	NM_004706.4(ARHGEF1):c.2249+13C>G	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2976476	NM_004706.4(ARHGEF1):c.2492-9C>T	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975601	NM_004706.4(ARHGEF1):c.1917+13C>G	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975421	NM_004706.4(ARHGEF1):c.1498-8C>T	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974239	NM_004706.4(ARHGEF1):c.1918-12C>G	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973139	NM_004706.4(ARHGEF1):c.947C>A (p.Ala316Asp)	ARHGEF1 (A316D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2972083	NM_004706.4(ARHGEF1):c.407G>A (p.Arg136Gln)	ARHGEF1 (R103Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2971407	NM_004706.4(ARHGEF1):c.615-3C>T	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2971308	NM_004706.4(ARHGEF1):c.1340C>T (p.Ala447Val)	ARHGEF1 (A414V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2971284	NM_004706.4(ARHGEF1):c.2286G>C (p.Leu762=)	ARHGEF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2970695	NM_004706.4(ARHGEF1):c.2249+7G>C	ARHGEF1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2969588	NM_004706.4(ARHGEF1):c.2656-12C>T	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968494	NM_004706.4(ARHGEF1):c.24+19G>A	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2967712	NM_004706.4(ARHGEF1):c.572G>A (p.Arg191Gln)	ARHGEF1 (R191Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2967590	NM_004706.4(ARHGEF1):c.1417C>T (p.Leu473=)	ARHGEF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2967399	NM_004706.4(ARHGEF1):c.826C>T (p.Arg276Trp)	ARHGEF1 (R243W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2966602	NM_004706.4(ARHGEF1):c.447C>T (p.Ala149=)	ARHGEF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2965128	NM_004706.4(ARHGEF1):c.2522C>A (p.Ala841Glu)	ARHGEF1 (A856E +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2959886	NM_004706.4(ARHGEF1):c.1767G>C (p.Glu589Asp)	ARHGEF1 (E589D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2959704	NM_004706.4(ARHGEF1):c.1158G>A (p.Ser386=)	ARHGEF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2958765	NM_004706.4(ARHGEF1):c.558C>T (p.Tyr186=)	ARHGEF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2958732	NM_004706.4(ARHGEF1):c.1413T>C (p.His471=)	ARHGEF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2955822	NM_004706.4(ARHGEF1):c.226-13G>A	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2914530	NM_004706.4(ARHGEF1):c.225+7G>A	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2912855	NM_004706.4(ARHGEF1):c.1965G>A (p.Thr655=)	ARHGEF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2909883	NM_004706.4(ARHGEF1):c.1432C>T (p.Leu478=)	ARHGEF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2905749	NM_004706.4(ARHGEF1):c.1665G>A (p.Lys555=)	ARHGEF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2900793	NM_004706.4(ARHGEF1):c.2178C>T (p.Tyr726=)	ARHGEF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2898466	NM_004706.4(ARHGEF1):c.366T>C (p.Leu122=)	ARHGEF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2897862	NM_004706.4(ARHGEF1):c.509A>G (p.Gln170Arg)	ARHGEF1 (Q170R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2897589	NM_004706.4(ARHGEF1):c.55G>A (p.Val19Ile)	ARHGEF1 (V19I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2896933	NM_004706.4(ARHGEF1):c.-1G>C	ARHGEF1 (E15D)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2896268	NM_004706.4(ARHGEF1):c.1623+6G>A	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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