ARHGAP24[gene] - ClinVar - NCBI

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	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 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
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 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 147709	GRCh38/hg38 4q21.21-21.23(chr4:79786514-85832807)x1	BMP3, CDS1 +137 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 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 145649	GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1	ABCG2, ABRAXAS1 +244 more	Copy number loss	See cases	GPathogenic
Select item 147434	GRCh38/hg38 4q21.23-22.1(chr4:84329551-87679204)x1	AFF1, AFF1-AS1 +62 more	Copy number loss	See cases	GPathogenic
Select item 146118	GRCh38/hg38 4q21.23-21.3(chr4:84577519-86077547)x3	ARHGAP24, CDS1 +17 more	Copy number gain	See cases	GPathogenic
Select item 156924	NM_001025616.2(ARHGAP24):c.-186452_-21+35669dup	ARHGAP24, LOC126807102 +2 more	Duplication	Preeclampsia	Gnot provided
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 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 2193746	NM_001025616.3(ARHGAP24):c.8A>G (p.Glu3Gly)	ARHGAP24 (E3G)	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 3016668	NM_001025616.3(ARHGAP24):c.49C>T (p.Arg17Trp)	ARHGAP24 (R17W)	Single nucleotide variant (missense variant)	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 2232415	NM_001025616.3(ARHGAP24):c.116G>A (p.Arg39His)	ARHGAP24 (R39H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 3046557	NM_001025616.3(ARHGAP24):c.165T>C (p.Asp55=)	ARHGAP24	Single nucleotide variant (synonymous variant)	ARHGAP24-related disorder	GLikely benign
Select item 2719901	NM_001025616.3(ARHGAP24):c.167A>G (p.Glu56Gly)	ARHGAP24 (E56G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1427945	NM_001025616.3(ARHGAP24):c.178T>G (p.Leu60Val)	ARHGAP24 (L60V)	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 2123501	NM_001025616.3(ARHGAP24):c.193del (p.Leu65fs)	ARHGAP24 (L65fs)	Deletion (frameshift variant)	not provided	GUncertain significance
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 1948368	NM_001025616.3(ARHGAP24):c.207A>G (p.Lys69=)	ARHGAP24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3128666	NM_001025616.3(ARHGAP24):c.217C>T (p.His73Tyr)	ARHGAP24 (H73Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128667	NM_001025616.3(ARHGAP24):c.246G>T (p.Lys82Asn)	ARHGAP24 (K82N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1619964	NM_001025616.3(ARHGAP24):c.269-8T>C	ARHGAP24	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 1620602	NM_001025616.3(ARHGAP24):c.277C>A (p.Arg93=)	ARHGAP24	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1900416	NM_001025616.3(ARHGAP24):c.278G>A (p.Arg93Gln)	ARHGAP24 (R93Q +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1482931	NM_001025616.3(ARHGAP24):c.284G>A (p.Arg95Gln)	ARHGAP24 (R10Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 2522668	NM_001025616.3(ARHGAP24):c.358A>G (p.Ile120Val)	ARHGAP24 (I35V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 2097606	NM_001025616.3(ARHGAP24):c.391+7G>A	ARHGAP24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2896373	NM_001025616.3(ARHGAP24):c.391+10C>T	ARHGAP24	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
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 3046102	NM_001025616.3(ARHGAP24):c.391+7160G>A	ARHGAP24	Single nucleotide variant (5 prime UTR variant +1 more)	ARHGAP24-related disorder	GLikely benign
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 1905439	NM_001025616.3(ARHGAP24):c.392-20T>G	ARHGAP24	Single nucleotide variant (intron variant)	not provided	GBenign
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 1279194	NM_001025616.3(ARHGAP24):c.392-4del	ARHGAP24	Deletion (intron variant)	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 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 1920319	NM_001025616.3(ARHGAP24):c.441T>C (p.Tyr147=)	ARHGAP24	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1904142	NM_001025616.3(ARHGAP24):c.458C>T (p.Pro153Leu)	ARHGAP24 (P68L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 +1 more	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 2628716	NM_001025616.3(ARHGAP24):c.494A>C (p.Gln165Pro)	ARHGAP24 (Q165P +3 more)	Single nucleotide variant (missense variant +1 more)	ARHGAP24-related disorder	GUncertain significance
Select item 1330262	NM_001025616.3(ARHGAP24):c.509A>C (p.Glu170Ala)	ARHGAP24 (E170A +3 more)	Single nucleotide variant (intron variant +1 more)	Focal segmental glomerulosclerosis	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 1632472	NM_001025616.3(ARHGAP24):c.525A>C (p.Arg175=)	ARHGAP24	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely 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 3128668	NM_001025616.3(ARHGAP24):c.537G>C (p.Gln179His)	ARHGAP24 (Q86H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 988215	NM_001025616.3(ARHGAP24):c.550A>G (p.Lys184Glu)	ARHGAP24 (K184E +3 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome	GUncertain significance
Select item 1395241	NM_001025616.3(ARHGAP24):c.555G>C (p.Glu185Asp)	ARHGAP24 (E100D +3 more)	Single nucleotide variant (missense variant +1 more)	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 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 2578964	NM_001025616.3(ARHGAP24):c.591A>G (p.Ser197=)	ARHGAP24	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2411550	NM_001025616.3(ARHGAP24):c.594T>A (p.Phe198Leu)	ARHGAP24 (F105L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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