"GeneDx"[submitter] AND "ARHGAP24"[gene] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 151718	GRCh38/hg38 4q21.21-21.3(chr4:80043949-86948317)x1	ABRAXAS1, AFF1 +146 more	Copy number loss	See cases	GPathogenic
Select item 152923	GRCh38/hg38 4q21.23-22.2(chr4:85449365-93973194)x1	ABCG2, AFF1 +126 more	Copy number loss	See cases	GPathogenic
Select item 1234179	NM_001025616.3(ARHGAP24):c.-20-241T>C	ARHGAP24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3343911	NM_001025616.3(ARHGAP24):c.-20-201_-20-198dup	ARHGAP24	Duplication (intron variant)	not provided	GLikely benign
Select item 1800575	NM_001025616.3(ARHGAP24):c.-20-160_-20-125del	ARHGAP24	Deletion (intron variant)	not provided	GLikely benign
Select item 1706919	NM_001025616.3(ARHGAP24):c.-20-157TCTT[4]	ARHGAP24	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1270853	NM_001025616.3(ARHGAP24):c.-20-157TCTT[5]	ARHGAP24	Microsatellite (intron variant)	not provided	GBenign
Select item 1253913	NM_001025616.3(ARHGAP24):c.-20-157TCTT[6]	ARHGAP24	Microsatellite (intron variant)	not provided	GBenign
Select item 1235243	NM_001025616.3(ARHGAP24):c.-20-135_-20-133del	ARHGAP24	Deletion (intron variant)	not provided	GBenign
Select item 1259699	NM_001025616.3(ARHGAP24):c.-20-80dup	ARHGAP24	Duplication (intron variant)	not provided	GBenign
Select item 1189401	NM_001025616.3(ARHGAP24):c.-20-85T>C	ARHGAP24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1303259	NM_001025616.3(ARHGAP24):c.120G>A (p.Trp40Ter)	ARHGAP24 (W40*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1933513	NM_001025616.3(ARHGAP24):c.124G>C (p.Val42Leu)	ARHGAP24 (V42L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1267166	NM_001025616.3(ARHGAP24):c.180+94G>A	ARHGAP24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272761	NM_001025616.3(ARHGAP24):c.180+144G>A	ARHGAP24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235460	NM_001025616.3(ARHGAP24):c.180+187A>G	ARHGAP24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274661	NM_001025616.3(ARHGAP24):c.181-220T>C	ARHGAP24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199919	NM_001025616.3(ARHGAP24):c.181-182G>A	ARHGAP24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181432	NM_001025616.3(ARHGAP24):c.181-131A>G	ARHGAP24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261838	NM_001025616.3(ARHGAP24):c.181-39C>A	ARHGAP24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269843	NM_001025616.3(ARHGAP24):c.268+30A>C	ARHGAP24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276351	NM_001025616.3(ARHGAP24):c.268+209G>A	ARHGAP24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177995	NM_001025616.3(ARHGAP24):c.268+242A>C	ARHGAP24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239997	NM_001025616.3(ARHGAP24):c.269-95495T>C	ARHGAP24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190678	NM_001025616.3(ARHGAP24):c.269-95346A>G	ARHGAP24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287154	NM_001025616.3(ARHGAP24):c.269-319G>C	ARHGAP24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277448	NM_001025616.3(ARHGAP24):c.303A>G (p.Glu101=)	ARHGAP24	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 1239278	NM_001025616.3(ARHGAP24):c.391+25A>G	ARHGAP24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245739	NM_001025616.3(ARHGAP24):c.391+77C>G	ARHGAP24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185790	NM_001025616.3(ARHGAP24):c.391+225T>C	ARHGAP24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286920	NM_001025616.3(ARHGAP24):c.391+6385A>T	ARHGAP24	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1186661	NM_001025616.3(ARHGAP24):c.391+6394C>T	ARHGAP24	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1238140	NM_001025616.3(ARHGAP24):c.391+6411G>C	ARHGAP24	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1247774	NM_001025616.3(ARHGAP24):c.391+6637A>G	ARHGAP24	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1269232	NM_001025616.3(ARHGAP24):c.391+6673C>T	ARHGAP24	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1218087	NM_001025616.3(ARHGAP24):c.391+6922dup	ARHGAP24	Duplication (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1257422	NM_001025616.3(ARHGAP24):c.391+6961T>G	ARHGAP24	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1228656	NM_001025616.3(ARHGAP24):c.391+7174G>T	ARHGAP24 (R5L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1270526	NM_001025616.3(ARHGAP24):c.391+7285del	ARHGAP24	Deletion (intron variant)	not provided	GBenign
Select item 1248170	NM_001025616.3(ARHGAP24):c.391+7585G>C	ARHGAP24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183528	NM_001025616.3(ARHGAP24):c.392-187G>A	ARHGAP24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246304	NM_001025616.3(ARHGAP24):c.392-53C>T	ARHGAP24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279194	NM_001025616.3(ARHGAP24):c.392-4del	ARHGAP24	Deletion (intron variant)	not provided	GBenign
Select item 224509	NM_001025616.3(ARHGAP24):c.473A>G (p.Gln158Arg)	ARHGAP24 (Q158R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1702774	NM_001025616.3(ARHGAP24):c.482A>G (p.Asp161Gly)	ARHGAP24 (D161G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 1281512	NM_001025616.3(ARHGAP24):c.599+41T>A	ARHGAP24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193210	NM_001025616.3(ARHGAP24):c.600-98A>G	ARHGAP24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1708704	NM_001025616.3(ARHGAP24):c.628C>T (p.Leu210Phe)	ARHGAP24 (L115F +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 152920	GRCh38/hg38 4q21.23-21.3(chr4:85972086-87031375)x1	AFF1, AFF1-AS1 +21 more	Copy number loss	See cases	GPathogenic
Select item 1197095	NM_001025616.3(ARHGAP24):c.806+62T>A	ARHGAP24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202651	NM_001025616.3(ARHGAP24):c.806+73A>G	ARHGAP24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265176	NM_001025616.3(ARHGAP24):c.807-223A>G	ARHGAP24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280066	NM_001025616.3(ARHGAP24):c.928+264G>A	ARHGAP24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225932	NM_001025616.3(ARHGAP24):c.929-142T>C	ARHGAP24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209507	NM_001025616.3(ARHGAP24):c.929-54G>T	ARHGAP24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283401	NM_001025616.3(ARHGAP24):c.929-29A>G	ARHGAP24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268964	NM_001025616.3(ARHGAP24):c.1041T>C (p.Asn347=)	ARHGAP24	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1321804	NM_001025616.3(ARHGAP24):c.1076A>G (p.Gln359Arg)	ARHGAP24 (Q166R +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1274074	NM_001025616.3(ARHGAP24):c.1116G>A (p.Arg372=)	ARHGAP24	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3372898	NM_001025616.3(ARHGAP24):c.1199C>A (p.Thr400Asn)	ARHGAP24 (T207N +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1195227	NM_001025616.3(ARHGAP24):c.1249C>G (p.Pro417Ala)	ARHGAP24 (P224A +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
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 1303208	NM_001025616.3(ARHGAP24):c.1442C>T (p.Thr481Met)	ARHGAP24 (T288M +4 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 780484	NM_001025616.3(ARHGAP24):c.1615T>C (p.Phe539Leu)	ARHGAP24 (F444L +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely 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 384542	NM_001025616.3(ARHGAP24):c.1916G>A (p.Ser639Asn)	ARHGAP24 (S639N +4 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1204264	NM_001025616.3(ARHGAP24):c.2003+232G>A	ARHGAP24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220657	NM_001025616.3(ARHGAP24):c.2003+300A>G	ARHGAP24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194901	NM_001025616.3(ARHGAP24):c.2004-105G>A	ARHGAP24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1297915	NM_001025616.3(ARHGAP24):c.2004-15dup	ARHGAP24	Duplication (intron variant)	not provided	GBenign
Select item 1284115	NM_001025616.3(ARHGAP24):c.2004-23A>C	ARHGAP24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297191	NM_001025616.3(ARHGAP24):c.2004-20C>G	ARHGAP24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283251	NM_001025616.3(ARHGAP24):c.2184G>A (p.Thr728=)	ARHGAP24	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 384543	NM_001025616.3(ARHGAP24):c.2225G>A (p.Gly742Glu)	ARHGAP24 (G742E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256866	NM_001025616.3(ARHGAP24):c.*312A>T	ARHGAP24	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 151681	GRCh38/hg38 4q21.3(chr4:86002088-86051292)x3	ARHGAP24, MAPK10	Copy number gain	See cases	GUncertain significance

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Items: 80