ARHGAP20[gene] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 3128568	NM_001384657.1(ARHGAP20):c.3553A>G (p.Arg1185Gly)	ARHGAP20 (R1162G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460714	NM_001384657.1(ARHGAP20):c.3526C>T (p.Pro1176Ser)	ARHGAP20 (P1153S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402332	NM_001384657.1(ARHGAP20):c.3404T>A (p.Leu1135Gln)	ARHGAP20 (L1099Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380971	NM_001384657.1(ARHGAP20):c.3373C>A (p.Pro1125Thr)	ARHGAP20 (P1125T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311051	NM_001384657.1(ARHGAP20):c.3349G>A (p.Asp1117Asn)	ARHGAP20 (D1081N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615495	NM_001384657.1(ARHGAP20):c.3266A>G (p.Glu1089Gly)	ARHGAP20 (E1053G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266951	NM_001384657.1(ARHGAP20):c.3221C>A (p.Pro1074His)	ARHGAP20 (P1048H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311088	NM_001384657.1(ARHGAP20):c.3191T>C (p.Ile1064Thr)	ARHGAP20 (I1028T +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2396912	NM_001384657.1(ARHGAP20):c.3181G>A (p.Glu1061Lys)	ARHGAP20 (E1025K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241788	NM_001384657.1(ARHGAP20):c.3152A>G (p.Lys1051Arg)	ARHGAP20 (K1015R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593605	NM_001384657.1(ARHGAP20):c.3137A>G (p.Lys1046Arg)	ARHGAP20 (K1046R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128567	NM_001384657.1(ARHGAP20):c.3035G>A (p.Arg1012His)	ARHGAP20 (R976H +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3311029	NM_001384657.1(ARHGAP20):c.3007G>A (p.Gly1003Ser)	ARHGAP20 (G967S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128566	NM_001384657.1(ARHGAP20):c.2998G>A (p.Gly1000Arg)	ARHGAP20 (G964R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557468	NM_001384657.1(ARHGAP20):c.2992G>T (p.Val998Phe)	ARHGAP20 (V962F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128565	NM_001384657.1(ARHGAP20):c.2894T>G (p.Val965Gly)	ARHGAP20 (V929G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589754	NM_001384657.1(ARHGAP20):c.2785C>T (p.Leu929Phe)	ARHGAP20 (L906F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613460	NM_001384657.1(ARHGAP20):c.2654T>A (p.Leu885His)	ARHGAP20 (L885H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347828	NM_001384657.1(ARHGAP20):c.2629C>T (p.Leu877Phe)	ARHGAP20 (L841F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390936	NM_001384657.1(ARHGAP20):c.2564G>A (p.Arg855His)	ARHGAP20 (R829H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343282	NM_001384657.1(ARHGAP20):c.2564G>T (p.Arg855Leu)	ARHGAP20 (R819L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607587	NM_001384657.1(ARHGAP20):c.2550A>G (p.Ile850Met)	ARHGAP20 (I850M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128563	NM_001384657.1(ARHGAP20):c.2549T>C (p.Ile850Thr)	ARHGAP20 (I814T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232571	NM_001384657.1(ARHGAP20):c.2528G>A (p.Arg843Gln)	ARHGAP20 (R817Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322542	NM_001384657.1(ARHGAP20):c.2387C>G (p.Ser796Cys)	ARHGAP20 (S760C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464453	NM_001384657.1(ARHGAP20):c.2368G>A (p.Val790Met)	ARHGAP20 (V767M +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3311040	NM_001384657.1(ARHGAP20):c.2365C>T (p.His789Tyr)	ARHGAP20 (H753Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507455	NM_001384657.1(ARHGAP20):c.2279G>A (p.Ser760Asn)	ARHGAP20 (S724N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454639	NM_001384657.1(ARHGAP20):c.2125G>A (p.Asp709Asn)	ARHGAP20 (D683N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530926	NM_001384657.1(ARHGAP20):c.2086A>C (p.Ser696Arg)	ARHGAP20 (S660R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390007	NM_001384657.1(ARHGAP20):c.2011C>T (p.Arg671Trp)	ARHGAP20 (R645W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128562	NM_001384657.1(ARHGAP20):c.2005C>A (p.Pro669Thr)	ARHGAP20 (P643T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589416	NM_001384657.1(ARHGAP20):c.1976C>T (p.Pro659Leu)	ARHGAP20 (P659L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242865	NM_001384657.1(ARHGAP20):c.1786G>A (p.Val596Ile)	ARHGAP20 (V570I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513307	NM_001384657.1(ARHGAP20):c.1672C>T (p.Leu558Phe)	ARHGAP20 (L535F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599185	NM_001384657.1(ARHGAP20):c.1591G>A (p.Glu531Lys)	ARHGAP20 (E505K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279114	NM_001384657.1(ARHGAP20):c.1519T>C (p.Phe507Leu)	ARHGAP20 (F471L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311077	NM_001384657.1(ARHGAP20):c.1346A>C (p.Asp449Ala)	ARHGAP20 (D413A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128560	NM_001384657.1(ARHGAP20):c.1295C>G (p.Ser432Cys)	ARHGAP20 (S409C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336597	NM_001384657.1(ARHGAP20):c.1255G>A (p.Glu419Lys)	ARHGAP20 (E419K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517816	NM_001384657.1(ARHGAP20):c.1030A>G (p.Ser344Gly)	ARHGAP20 (S308G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591776	NM_001384657.1(ARHGAP20):c.1022G>A (p.Arg341Gln)	ARHGAP20 (R318Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215450	NM_001384657.1(ARHGAP20):c.953A>C (p.Gln318Pro)	ARHGAP20 (Q282P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605153	NM_001384657.1(ARHGAP20):c.949G>C (p.Ala317Pro)	ARHGAP20 (A317P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261925	NM_001384657.1(ARHGAP20):c.946G>A (p.Ala316Thr)	ARHGAP20 (A316T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361059	NM_001384657.1(ARHGAP20):c.934A>T (p.Ser312Cys)	ARHGAP20 (S276C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128569	NM_001384657.1(ARHGAP20):c.913T>C (p.Cys305Arg)	ARHGAP20 (C279R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608319	NM_001384657.1(ARHGAP20):c.902G>A (p.Arg301Gln)	ARHGAP20 (R278Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535899	NM_001384657.1(ARHGAP20):c.902G>T (p.Arg301Leu)	ARHGAP20 (R278L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311069	NM_001384657.1(ARHGAP20):c.864C>G (p.Phe288Leu)	ARHGAP20 (F252L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588620	NM_001384657.1(ARHGAP20):c.604G>A (p.Ala202Thr)	ARHGAP20 (A179T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594857	NM_001384657.1(ARHGAP20):c.550A>C (p.Ile184Leu)	ARHGAP20 (I161L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161737	NM_001384657.1(ARHGAP20):c.464T>C (p.Val155Ala)	ARHGAP20 (V155A +3 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2321828	NM_001384657.1(ARHGAP20):c.280C>T (p.Leu94Phe)	ARHGAP20 (L58F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365481	NM_001384657.1(ARHGAP20):c.272G>A (p.Arg91Gln)	ARHGAP20 (R55Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347042	NM_001384657.1(ARHGAP20):c.271C>G (p.Arg91Gly)	ARHGAP20 (R68G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128564	NM_001384657.1(ARHGAP20):c.263T>C (p.Ile88Thr)	ARHGAP20 (I88T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304104	NM_001384657.1(ARHGAP20):c.202G>A (p.Ala68Thr)	ARHGAP20 (A32T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351743	NM_001384657.1(ARHGAP20):c.187A>G (p.Arg63Gly)	ARHGAP20 (R37G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316276	NM_001384657.1(ARHGAP20):c.152T>C (p.Ile51Thr)	ARHGAP20 (I15T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311061	NM_001384657.1(ARHGAP20):c.118C>G (p.Leu40Val)	ARHGAP20 (L4V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380814	NM_001384657.1(ARHGAP20):c.101A>G (p.Lys34Arg)	ARHGAP20 (K34R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548398	NM_001384657.1(ARHGAP20):c.86G>T (p.Gly29Val)	ARHGAP20 (G29V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491305	NM_001384657.1(ARHGAP20):c.59C>T (p.Ser20Phe)	ARHGAP20 (S20F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546056	NM_001384657.1(ARHGAP20):c.32T>C (p.Leu11Pro)	ARHGAP20 (L11P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 1808702	GRCh37/hg19 11q22.3-23.3(chr11:109328787-116414966)x1	ALG9, ANKK1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	PCSK7, PGR +183 more	Copy number loss	not provided	GUncertain significance
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	PIH1D2, PIWIL4 +95 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	AASDHPPT, ABCG4 +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 815468	GRCh37/hg19 11q22.3-23.3(chr11:105699599-114524876)x1	AASDHPPT, ACAT1 +68 more	Copy number loss	not provided	GPathogenic
Select item 815462	GRCh37/hg19 11q22.3-23.2(chr11:103320065-114349787)x1	AASDHPPT, ACAT1 +76 more	Copy number loss	not provided	GPathogenic
Select item 688050	GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)x1	AASDHPPT, ACAT1 +80 more	Copy number loss	not provided	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 79