18357[HGNC] - ClinVar

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

Search results

Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +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	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	FDXACB1, FUT4 +94 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +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)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 79