ARHGEF5[gene] and "single gene"[properties] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2597209	NM_005435.4(ARHGEF5):c.218A>G (p.Glu73Gly)	ARHGEF5 (E73G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308624	NM_005435.4(ARHGEF5):c.242A>G (p.Glu81Gly)	ARHGEF5 (E81G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558736	NM_005435.4(ARHGEF5):c.256G>A (p.Val86Met)	ARHGEF5 (V86M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362145	NM_005435.4(ARHGEF5):c.343C>G (p.Gln115Glu)	ARHGEF5 (Q115E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129370	NM_005435.4(ARHGEF5):c.478A>T (p.Thr160Ser)	ARHGEF5 (T160S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531654	NM_005435.4(ARHGEF5):c.640G>A (p.Glu214Lys)	ARHGEF5 (E214K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540672	NM_005435.4(ARHGEF5):c.667C>T (p.His223Tyr)	ARHGEF5 (H223Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129371	NM_005435.4(ARHGEF5):c.675G>C (p.Gln225His)	ARHGEF5 (Q225H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303969	NM_005435.4(ARHGEF5):c.703C>G (p.Gln235Glu)	ARHGEF5 (Q235E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544687	NM_005435.4(ARHGEF5):c.793G>T (p.Val265Phe)	ARHGEF5 (V265F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314145	NM_005435.4(ARHGEF5):c.798T>A (p.Asn266Lys)	ARHGEF5 (N266K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526410	NM_005435.4(ARHGEF5):c.875G>A (p.Gly292Glu)	ARHGEF5 (G292E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658126	NM_005435.4(ARHGEF5):c.906C>T (p.Asp302=)	ARHGEF5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2547993	NM_005435.4(ARHGEF5):c.992A>G (p.Gln331Arg)	ARHGEF5 (Q331R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2509467	NM_005435.4(ARHGEF5):c.1031A>G (p.Lys344Arg)	ARHGEF5 (K344R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278925	NM_005435.4(ARHGEF5):c.1090A>G (p.Ile364Val)	ARHGEF5 (I364V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658127	NM_005435.4(ARHGEF5):c.1092A>C (p.Ile364=)	ARHGEF5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3129364	NM_005435.4(ARHGEF5):c.1228C>G (p.Leu410Val)	ARHGEF5 (L410V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314106	NM_005435.4(ARHGEF5):c.1271G>T (p.Gly424Val)	ARHGEF5 (G424V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272719	NM_005435.4(ARHGEF5):c.1287G>A (p.Met429Ile)	ARHGEF5 (M429I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314164	NM_005435.4(ARHGEF5):c.1324G>C (p.Glu442Gln)	ARHGEF5 (E442Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609344	NM_005435.4(ARHGEF5):c.1346T>C (p.Leu449Pro)	ARHGEF5 (L449P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595544	NM_005435.4(ARHGEF5):c.1387A>G (p.Ile463Val)	ARHGEF5 (I463V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475952	NM_005435.4(ARHGEF5):c.1430A>G (p.Lys477Arg)	ARHGEF5 (K477R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658128	NM_005435.4(ARHGEF5):c.1504G>T (p.Val502Leu)	ARHGEF5 (V502L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2276671	NM_005435.4(ARHGEF5):c.1631G>T (p.Arg544Met)	ARHGEF5 (R544M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320994	NM_005435.4(ARHGEF5):c.2113C>A (p.Pro705Thr)	ARHGEF5 (P705T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342777	NM_005435.4(ARHGEF5):c.2378C>T (p.Ser793Phe)	ARHGEF5 (S793F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469846	NM_005435.4(ARHGEF5):c.2425T>C (p.Tyr809His)	ARHGEF5 (Y809H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406364	NM_005435.4(ARHGEF5):c.2441C>T (p.Pro814Leu)	ARHGEF5 (P814L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129365	NM_005435.4(ARHGEF5):c.2532C>G (p.Ile844Met)	ARHGEF5 (I844M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354855	NM_005435.4(ARHGEF5):c.2577G>T (p.Arg859Ser)	ARHGEF5 (R859S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129366	NM_005435.4(ARHGEF5):c.2602G>A (p.Gly868Arg)	ARHGEF5 (G868R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399884	NM_005435.4(ARHGEF5):c.2684G>A (p.Arg895His)	ARHGEF5 (R895H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658129	NM_005435.4(ARHGEF5):c.2700G>A (p.Pro900=)	ARHGEF5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2530152	NM_005435.4(ARHGEF5):c.2782A>G (p.Met928Val)	ARHGEF5 (M928V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212905	NM_005435.4(ARHGEF5):c.2876A>T (p.His959Leu)	ARHGEF5 (H959L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496548	NM_005435.4(ARHGEF5):c.2891C>T (p.Ala964Val)	ARHGEF5 (A964V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255517	NM_005435.4(ARHGEF5):c.3013T>G (p.Trp1005Gly)	ARHGEF5 (W1005G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302286	NM_005435.4(ARHGEF5):c.3090C>A (p.Asn1030Lys)	ARHGEF5 (N1030K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568809	NM_005435.4(ARHGEF5):c.3571C>T (p.Arg1191Cys)	ARHGEF5 (R1191C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348497	NM_005435.4(ARHGEF5):c.3858C>G (p.Ser1286Arg)	ARHGEF5 (S1286R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2520660	NM_005435.4(ARHGEF5):c.3898G>A (p.Val1300Ile)	ARHGEF5 (V1300I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2349955	NM_005435.4(ARHGEF5):c.4025C>T (p.Thr1342Met)	ARHGEF5 (T1342M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314138	NM_005435.4(ARHGEF5):c.4039G>A (p.Ala1347Thr)	ARHGEF5 (A1347T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314155	NM_005435.4(ARHGEF5):c.4108T>C (p.Tyr1370His)	ARHGEF5 (Y1370H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313381	NM_005435.4(ARHGEF5):c.4148C>T (p.Pro1383Leu)	ARHGEF5 (P1383L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658130	NM_005435.4(ARHGEF5):c.4149G>A (p.Pro1383=)	ARHGEF5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3314128	NM_005435.4(ARHGEF5):c.4409G>A (p.Arg1470Gln)	ARHGEF5 (R1470Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314117	NM_005435.4(ARHGEF5):c.4447C>T (p.Arg1483Cys)	ARHGEF5 (R1483C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324398	NM_005435.4(ARHGEF5):c.4481T>G (p.Ile1494Ser)	ARHGEF5 (I1494S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129369	NM_005435.4(ARHGEF5):c.4658T>A (p.Leu1553His)	ARHGEF5 (L1553H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 52