ARHGAP18[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996786, LOC129996787 +1449 more	Copy number gain	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 154738	GRCh38/hg38 6q22.32-23.2(chr6:126494533-132497855)x1	AKAP7, ARG1 +127 more	Copy number loss	See cases	GLikely pathogenic
Select item 154269	GRCh38/hg38 6q22.33-23.2(chr6:129191313-132131620)x1	AKAP7, ARG1 +87 more	Copy number loss	See cases	GLikely pathogenic
Select item 3128543	NM_033515.3(ARHGAP18):c.1941A>T (p.Leu647Phe)	ARHGAP18 (L647F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128541	NM_033515.3(ARHGAP18):c.1907G>A (p.Arg636His)	ARHGAP18 (R636H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602120	NM_033515.3(ARHGAP18):c.1906C>T (p.Arg636Cys)	ARHGAP18 (R636C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402818	NM_033515.3(ARHGAP18):c.1739G>A (p.Arg580Gln)	ARHGAP18 (R580Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 147128	GRCh38/hg38 6q22.33(chr6:129591658-129773902)x3	ARHGAP18, LOC113146413 +12 more	Copy number gain	See cases	GBenign
Select item 3128540	NM_033515.3(ARHGAP18):c.1708A>G (p.Asn570Asp)	ARHGAP18 (N570D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614299	NM_033515.3(ARHGAP18):c.1665G>C (p.Met555Ile)	ARHGAP18 (M555I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387375	NM_033515.3(ARHGAP18):c.1447G>A (p.Ala483Thr)	ARHGAP18 (A483T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223926	NM_033515.3(ARHGAP18):c.1376A>C (p.Glu459Ala)	ARHGAP18 (E459A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313580	NM_033515.3(ARHGAP18):c.1334T>C (p.Leu445Pro)	ARHGAP18 (L445P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128539	NM_033515.3(ARHGAP18):c.1303C>A (p.Gln435Lys)	ARHGAP18 (Q435K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493197	NM_033515.3(ARHGAP18):c.1198G>A (p.Ala400Thr)	ARHGAP18 (A400T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039265	NM_033515.3(ARHGAP18):c.1123-20_1123-13del	ARHGAP18	Deletion (intron variant)	ARHGAP18-related disorder	GLikely benign
Select item 2656908	NM_033515.3(ARHGAP18):c.1113T>C (p.Ile371=)	ARHGAP18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3128536	NM_033515.3(ARHGAP18):c.1031T>C (p.Leu344Ser)	ARHGAP18 (L344S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618533	NM_033515.3(ARHGAP18):c.995A>G (p.Gln332Arg)	ARHGAP18 (Q332R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346887	NM_033515.3(ARHGAP18):c.983C>T (p.Ala328Val)	ARHGAP18 (A328V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2353583	NM_033515.3(ARHGAP18):c.970G>A (p.Val324Ile)	ARHGAP18 (V324I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2349724	NM_033515.3(ARHGAP18):c.908G>A (p.Gly303Asp)	ARHGAP18 (G303D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128549	NM_033515.3(ARHGAP18):c.901G>A (p.Val301Ile)	ARHGAP18 (V301I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277114	NM_033515.3(ARHGAP18):c.845A>G (p.Gln282Arg)	ARHGAP18 (Q282R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128548	NM_033515.3(ARHGAP18):c.784C>A (p.Pro262Thr)	ARHGAP18 (P262T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318924	NM_033515.3(ARHGAP18):c.761G>C (p.Ser254Thr)	ARHGAP18 (S254T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128546	NM_033515.3(ARHGAP18):c.725A>G (p.Asn242Ser)	ARHGAP18 (N242S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394812	NM_033515.3(ARHGAP18):c.604C>G (p.Gln202Glu)	ARHGAP18 (Q202E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128545	NM_033515.3(ARHGAP18):c.574C>G (p.Gln192Glu)	ARHGAP18 (Q192E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128544	NM_033515.3(ARHGAP18):c.556C>G (p.Pro186Ala)	ARHGAP18 (P186A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656909	NM_033515.3(ARHGAP18):c.462G>A (p.Thr154=)	ARHGAP18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2384715	NM_033515.3(ARHGAP18):c.424C>T (p.Arg142Trp)	ARHGAP18 (R142W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611265	NM_033515.3(ARHGAP18):c.392A>G (p.Gln131Arg)	ARHGAP18 (Q131R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483490	NM_033515.3(ARHGAP18):c.385G>C (p.Asp129His)	ARHGAP18 (D129H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375815	NM_033515.3(ARHGAP18):c.370G>A (p.Gly124Arg)	ARHGAP18 (G124R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128538	NM_033515.3(ARHGAP18):c.125G>A (p.Gly42Asp)	ARHGAP18 (G42D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289824	NM_033515.3(ARHGAP18):c.124G>A (p.Gly42Ser)	ARHGAP18 (G42S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358685	NM_033515.3(ARHGAP18):c.116G>A (p.Arg39His)	ARHGAP18 (R39H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783473	NM_033515.3(ARHGAP18):c.94G>A (p.Gly32Arg)	ARHGAP18 (G32R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2274249	NM_033515.3(ARHGAP18):c.91G>A (p.Ala31Thr)	ARHGAP18 (A31T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319751	NM_033515.3(ARHGAP18):c.81C>A (p.Ser27Arg)	ARHGAP18 (S27R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128547	NM_033515.3(ARHGAP18):c.73G>C (p.Gly25Arg)	ARHGAP18 (G25R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269630	NM_033515.3(ARHGAP18):c.56G>A (p.Gly19Asp)	ARHGAP18 (G19D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242313	GRCh37/hg19 6q22.33-23.2(chr6:129969121-132499298)x1	AKAP7, ARG1 +13 more	Copy number loss	not provided	GUncertain significance
Select item 3062929	GRCh37/hg19 6q22.31-22.33(chr6:124515654-130227224)x1	ARHGAP18, C6orf58 +19 more	Copy number loss	not specified	GUncertain significance
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685213	GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1	AHI1, AKAP7 +69 more	Copy number loss	not provided	GPathogenic
Select item 1809059	GRCh37/hg19 6q22.33(chr6:129591287-130020873)x3	ARHGAP18, LAMA2	Copy number gain	not provided	GUncertain significance
Select item 1808088	GRCh37/hg19 6q22.31-22.33(chr6:120059951-130033233)x1	ARHGAP18, C6orf58 +27 more	Copy number loss	not provided	GUncertain significance
Select item 1712295	Single allele	ARHGAP18, LAMA2 +1 more	Complex	Muscular dystrophy, limb-girdle, autosomal recessive 23	GPathogenic
Select item 1527289	GRCh37/hg19 6q22.33(chr6:129793417-129924616)	ARHGAP18, LAMA2	Copy number loss	not specified	GUncertain significance
Select item 1527288	GRCh37/hg19 6q22.33-23.1(chr6:129779876-130603406)	ARHGAP18, L3MBTL3 +3 more	Copy number gain	not specified	GUncertain significance
Select item 980789	GRCh37/hg19 6q22.33(chr6:129591286-130033233)x3	ARHGAP18, LAMA2	Copy number gain	not provided	GUncertain significance
Select item 625707	GRCh37/hg19 6q22.33-23.2(chr6:129513837-132618991)	ARG1, AKAP7 +15 more	Copy number loss	not provided	GLikely pathogenic
Select item 523159	GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1	EPB41L2, FABP7 +73 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442817	GRCh37/hg19 6q22.31-23.2(chr6:122612641-131564463)x1	AKAP7, ARHGAP18 +32 more	Copy number loss	See cases	GPathogenic

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Items: 62