ClinVar for Gene (Select 83478) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062786	GRCh37/hg19 4q21.23(chr4:85821886-86397283)x1	ARHGAP24, WDFY3	Copy number loss	not specified	GLikely pathogenic
Select item 3062764	GRCh37/hg19 4q21.21-22.3(chr4:81558759-95965995)x1	ABCG2, ABRAXAS1 +59 more	Copy number loss	not specified	GPathogenic
Select item 3062760	GRCh37/hg19 4q21.23-22.3(chr4:85139670-96295033)x3	ABCG2, AFF1 +40 more	Copy number gain	not specified	GLikely pathogenic
Select item 3048353	NM_001025616.3(ARHGAP24):c.726G>A (p.Glu242=)	ARHGAP24	Single nucleotide variant (synonymous variant)	ARHGAP24-related condition	GLikely benign
Select item 3047794	NM_001025616.3(ARHGAP24):c.2133C>T (p.Ala711=)	ARHGAP24	Single nucleotide variant (synonymous variant)	ARHGAP24-related condition	GLikely benign
Select item 3046557	NM_001025616.3(ARHGAP24):c.165T>C (p.Asp55=)	ARHGAP24	Single nucleotide variant (synonymous variant)	ARHGAP24-related condition	GLikely benign
Select item 3046102	NM_001025616.3(ARHGAP24):c.391+7160G>A	ARHGAP24	Single nucleotide variant (5 prime UTR variant +1 more)	ARHGAP24-related condition	GLikely benign
Select item 3035951	NM_001025616.3(ARHGAP24):c.1761C>T (p.Asn587=)	ARHGAP24	Single nucleotide variant (synonymous variant)	ARHGAP24-related condition	GLikely benign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic
Select item 3023821	NM_001025616.3(ARHGAP24):c.392-4dup	ARHGAP24	Duplication (intron variant)	not provided	GBenign
Select item 3022628	NM_001025616.3(ARHGAP24):c.392-5_392-4del	ARHGAP24	Deletion (intron variant)	not provided	GBenign
Select item 3016668	NM_001025616.3(ARHGAP24):c.49C>T (p.Arg17Trp)	ARHGAP24 (R17W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007908	NM_001025616.3(ARHGAP24):c.576T>C (p.Cys192=)	ARHGAP24	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2994445	NM_001025616.3(ARHGAP24):c.870G>A (p.Thr290=)	ARHGAP24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992876	NM_001025616.3(ARHGAP24):c.1258G>A (p.Val420Ile)	ARHGAP24 (V325I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992359	NM_001025616.3(ARHGAP24):c.896C>T (p.Pro299Leu)	ARHGAP24 (P204L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983711	NM_001025616.3(ARHGAP24):c.1746C>A (p.Asp582Glu)	ARHGAP24 (D497E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977408	NM_001025616.3(ARHGAP24):c.525A>G (p.Arg175=)	ARHGAP24	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2970565	NM_001025616.3(ARHGAP24):c.1811C>T (p.Pro604Leu)	ARHGAP24 (P411L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969947	NM_001025616.3(ARHGAP24):c.24G>A (p.Thr8=)	ARHGAP24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965955	NM_001025616.3(ARHGAP24):c.732+10T>G	ARHGAP24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964103	NM_001025616.3(ARHGAP24):c.2004-8C>T	ARHGAP24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955276	NM_001025616.3(ARHGAP24):c.2004-20_2004-19insT	ARHGAP24	Insertion (intron variant)	not provided	GLikely benign
Select item 2896373	NM_001025616.3(ARHGAP24):c.391+10C>T	ARHGAP24	Single nucleotide variant (intron variant)	ARHGAP24-related condition +1 more	GBenign/Likely benign
Select item 2892555	NM_001025616.3(ARHGAP24):c.1983G>T (p.Glu661Asp)	ARHGAP24 (E568D +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2845188	NM_001025616.3(ARHGAP24):c.1472C>G (p.Thr491Arg)	ARHGAP24 (T406R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2775887	NM_001025616.3(ARHGAP24):c.1158C>T (p.Ser386=)	ARHGAP24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2719901	NM_001025616.3(ARHGAP24):c.167A>G (p.Glu56Gly)	ARHGAP24 (E56G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2701214	NM_001025616.3(ARHGAP24):c.2147A>C (p.Asp716Ala)	ARHGAP24 (D621A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688591	NM_001025616.3(ARHGAP24):c.277C>T (p.Arg93Ter)	ARHGAP24 (R8* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2688590	NM_001025616.3(ARHGAP24):c.1477G>A (p.Gly493Arg)	ARHGAP24 (G300R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685977	GRCh37/hg19 4q21.23-21.3(chr4:86788719-87014832)x3	ARHGAP24, MAPK10	Copy number gain	not provided	GUncertain significance
Select item 2685118	GRCh37/hg19 4q21.23-21.3(chr4:85721709-86937764)x1	ARHGAP24, MAPK10 +1 more	Copy number loss	not provided	GPathogenic
Select item 2630846	NM_001025616.3(ARHGAP24):c.1039A>G (p.Asn347Asp)	ARHGAP24 (N154D +4 more)	Single nucleotide variant (missense variant)	ARHGAP24-related condition	GUncertain significance
Select item 2630114	NM_001025616.3(ARHGAP24):c.662C>T (p.Pro221Leu)	ARHGAP24 (P126L +4 more)	Single nucleotide variant (missense variant)	ARHGAP24-related condition	GUncertain significance
Select item 2628716	NM_001025616.3(ARHGAP24):c.494A>C (p.Gln165Pro)	ARHGAP24 (Q165P +3 more)	Single nucleotide variant (missense variant +1 more)	ARHGAP24-related condition	GUncertain significance
Select item 2619115	NM_001025616.3(ARHGAP24):c.1336C>A (p.Leu446Ile)	ARHGAP24 (L253I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617338	NM_001025616.3(ARHGAP24):c.1523A>G (p.Tyr508Cys)	ARHGAP24 (Y413C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614784	NM_001025616.3(ARHGAP24):c.1649T>C (p.Ile550Thr)	ARHGAP24 (I455T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2583022	NM_001025616.3(ARHGAP24):c.889C>T (p.Leu297=)	ARHGAP24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2580706	NM_001025616.3(ARHGAP24):c.1736C>G (p.Pro579Arg)	ARHGAP24 (P386R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 2578964	NM_001025616.3(ARHGAP24):c.591A>G (p.Ser197=)	ARHGAP24	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2541720	NM_001025616.3(ARHGAP24):c.1245C>A (p.Ser415Arg)	ARHGAP24 (S330R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533191	NM_001025616.3(ARHGAP24):c.724G>A (p.Glu242Lys)	ARHGAP24 (E149K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522668	NM_001025616.3(ARHGAP24):c.358A>G (p.Ile120Val)	ARHGAP24 (I35V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2516710	NM_001025616.3(ARHGAP24):c.1441A>G (p.Thr481Ala)	ARHGAP24 (T288A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507098	NM_001025616.3(ARHGAP24):c.584A>C (p.Lys195Thr)	ARHGAP24 (K100T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2504806	NM_001025616.3(ARHGAP24):c.330G>C (p.Gln110His)	ARHGAP24 (Q110H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2502618	NM_001025616.3(ARHGAP24):c.1418G>T (p.Gly473Val)	ARHGAP24 (G280V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2472047	NM_001025616.3(ARHGAP24):c.1447C>T (p.Arg483Cys)	ARHGAP24 (R388C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2461773	NM_001025616.3(ARHGAP24):c.2218G>A (p.Glu740Lys)	ARHGAP24 (E740K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411550	NM_001025616.3(ARHGAP24):c.594T>A (p.Phe198Leu)	ARHGAP24 (F105L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2394645	NM_001025616.3(ARHGAP24):c.1306G>A (p.Gly436Arg)	ARHGAP24 (G243R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357923	NM_001025616.3(ARHGAP24):c.1315A>G (p.Ser439Gly)	ARHGAP24 (S346G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355844	NM_001025616.3(ARHGAP24):c.164A>T (p.Asp55Val)	ARHGAP24 (D55V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2328190	NM_001025616.3(ARHGAP24):c.1844G>A (p.Ser615Asn)	ARHGAP24 (S615N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308604	NM_001025616.3(ARHGAP24):c.1878C>G (p.Ser626Arg)	ARHGAP24 (S433R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284092	NM_001025616.3(ARHGAP24):c.1760A>C (p.Asn587Thr)	ARHGAP24 (N492T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265592	NM_001025616.3(ARHGAP24):c.1318A>C (p.Ser440Arg)	ARHGAP24 (S347R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232415	NM_001025616.3(ARHGAP24):c.116G>A (p.Arg39His)	ARHGAP24 (R39H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229468	NM_001025616.3(ARHGAP24):c.1250C>T (p.Pro417Leu)	ARHGAP24 (P324L +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2228800	NM_001025616.3(ARHGAP24):c.1355C>T (p.Thr452Ile)	ARHGAP24 (T452I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227208	NM_001025616.3(ARHGAP24):c.1748T>C (p.Phe583Ser)	ARHGAP24 (F583S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222894	NM_001025616.3(ARHGAP24):c.1712G>T (p.Cys571Phe)	ARHGAP24 (C476F +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206816	NM_001025616.3(ARHGAP24):c.1160T>C (p.Met387Thr)	ARHGAP24 (M194T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202945	NM_001025616.3(ARHGAP24):c.2040G>C (p.Met680Ile)	ARHGAP24 (M585I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2194575	NM_001025616.3(ARHGAP24):c.1386C>A (p.Ser462Arg)	ARHGAP24 (S377R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2193746	NM_001025616.3(ARHGAP24):c.8A>G (p.Glu3Gly)	ARHGAP24 (E3G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2183999	NM_001025616.3(ARHGAP24):c.882T>G (p.Pro294=)	ARHGAP24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2175001	NM_001025616.3(ARHGAP24):c.1496G>A (p.Arg499Gln)	ARHGAP24 (R404Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2174555	NM_001025616.3(ARHGAP24):c.1334G>A (p.Gly445Asp)	ARHGAP24 (G360D +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2171866	NM_001025616.3(ARHGAP24):c.1222C>T (p.His408Tyr)	ARHGAP24 (H315Y +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2171160	NM_001025616.3(ARHGAP24):c.384C>T (p.Phe128=)	ARHGAP24 (R5W)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2164987	NM_001025616.3(ARHGAP24):c.2198C>G (p.Thr733Arg)	ARHGAP24 (T540R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2158628	NM_001025616.3(ARHGAP24):c.1190G>A (p.Gly397Asp)	ARHGAP24 (G204D +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2148819	NM_001025616.3(ARHGAP24):c.1065G>A (p.Met355Ile)	ARHGAP24 (M270I +4 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2127020	NM_001025616.3(ARHGAP24):c.1442C>G (p.Thr481Arg)	ARHGAP24 (T388R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2123501	NM_001025616.3(ARHGAP24):c.193del (p.Leu65fs)	ARHGAP24 (L65fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2106336	NM_001025616.3(ARHGAP24):c.600-5_600-4delinsTC	ARHGAP24	Indel (intron variant)	not provided	GUncertain significance
Select item 2105940	NM_001025616.3(ARHGAP24):c.753G>A (p.Lys251=)	ARHGAP24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2097606	NM_001025616.3(ARHGAP24):c.391+7G>A	ARHGAP24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2087930	NM_001025616.3(ARHGAP24):c.2134G>A (p.Glu712Lys)	ARHGAP24 (E617K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2084040	NM_001025616.3(ARHGAP24):c.273C>T (p.Gly91=)	ARHGAP24	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2081394	NM_001025616.3(ARHGAP24):c.1421C>T (p.Thr474Met)	ARHGAP24 (T381M +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2080810	NM_001025616.3(ARHGAP24):c.664G>C (p.Val222Leu)	ARHGAP24 (V127L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2079174	NM_001025616.3(ARHGAP24):c.1425C>G (p.His475Gln)	ARHGAP24 (H382Q +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2072803	NM_001025616.3(ARHGAP24):c.1443G>A (p.Thr481=)	ARHGAP24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2069754	NM_001025616.3(ARHGAP24):c.535C>A (p.Gln179Lys)	ARHGAP24 (Q84K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2067748	NM_001025616.3(ARHGAP24):c.50G>A (p.Arg17Gln)	ARHGAP24 (R17Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2066725	NM_001025616.3(ARHGAP24):c.1025G>A (p.Gly342Glu)	ARHGAP24 (G149E +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2066240	NM_001025616.3(ARHGAP24):c.425G>A (p.Arg142His)	ARHGAP24 (R49H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2064948	NM_001025616.3(ARHGAP24):c.416A>T (p.Asp139Val)	ARHGAP24 (D46V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2063581	NM_001025616.3(ARHGAP24):c.1865G>A (p.Arg622His)	ARHGAP24 (R622H +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2061685	NM_001025616.3(ARHGAP24):c.1856G>A (p.Arg619Gln)	ARHGAP24 (R534Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2047645	NM_001025616.3(ARHGAP24):c.621G>A (p.Val207=)	ARHGAP24	Single nucleotide variant (synonymous variant)	ARHGAP24-related condition +1 more	GBenign/Likely benign
Select item 2044759	NM_001025616.3(ARHGAP24):c.200G>A (p.Gly67Glu)	ARHGAP24 (G67E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2043879	NM_001025616.3(ARHGAP24):c.828C>T (p.Ser276=)	ARHGAP24	Single nucleotide variant (synonymous variant)	ARHGAP24-related condition +1 more	GBenign/Likely benign
Select item 2031599	NM_001025616.3(ARHGAP24):c.1732T>A (p.Cys578Ser)	ARHGAP24 (C485S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2011144	NM_001025616.3(ARHGAP24):c.952A>G (p.Met318Val)	ARHGAP24 (M318V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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