ARHGAP35[gene] - ClinVar

Search results

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	PLA2G4C, PLA2G4C-AS1 +363 more	Copy number gain	See cases	GPathogenic
Select item 60103	GRCh38/hg38 19q13.32-13.33(chr19:46458122-47683579)x1	AP2S1, ARHGAP35 +123 more	Copy number loss	See cases	GPathogenic
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	AP2S1, ARHGAP35 +290 more	Copy number gain	See cases	GPathogenic
Select item 2479048	NM_004491.5(ARHGAP35):c.145G>A (p.Glu49Lys)	ARHGAP35 (E49K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1679920	NM_004491.5(ARHGAP35):c.325C>T (p.Arg109Ter)	ARHGAP35 (R109*)	Single nucleotide variant (nonsense)	Martsolf syndrome 1	GLikely pathogenic
Select item 992281	NM_004491.5(ARHGAP35):c.326G>A (p.Arg109Gln)	ARHGAP35 (R109Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1679921	NM_004491.5(ARHGAP35):c.345del (p.Tyr116fs)	ARHGAP35 (Y116fs)	Deletion (frameshift variant)	Martsolf syndrome 1	GLikely pathogenic
Select item 1679922	NM_004491.5(ARHGAP35):c.352A>T (p.Lys118Ter)	ARHGAP35 (K118*)	Single nucleotide variant (nonsense)	Martsolf syndrome 1	GLikely pathogenic
Select item 774356	NM_004491.5(ARHGAP35):c.375T>C (p.Leu125=)	ARHGAP35	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2329349	NM_004491.5(ARHGAP35):c.416T>C (p.Leu139Pro)	ARHGAP35 (L139P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1679923	NM_004491.5(ARHGAP35):c.516del (p.Asn173fs)	ARHGAP35 (N173fs)	Deletion (frameshift variant)	Martsolf syndrome 1	GLikely pathogenic
Select item 3128811	NM_004491.5(ARHGAP35):c.860A>G (p.Asn287Ser)	ARHGAP35 (N287S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399883	NM_004491.5(ARHGAP35):c.866A>G (p.Asn289Ser)	ARHGAP35 (N289S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409599	NM_004491.5(ARHGAP35):c.890G>A (p.Arg297Gln)	ARHGAP35 (R297Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128812	NM_004491.5(ARHGAP35):c.979C>G (p.Arg327Gly)	ARHGAP35 (R327G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547346	NM_004491.5(ARHGAP35):c.1034C>T (p.Pro345Leu)	ARHGAP35 (P345L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556845	NM_004491.5(ARHGAP35):c.1271G>A (p.Arg424Lys)	ARHGAP35 (R424K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 547958	NM_004491.5(ARHGAP35):c.1300del (p.Arg434fs)	ARHGAP35 (R434fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3128797	NM_004491.5(ARHGAP35):c.1304C>T (p.Ala435Val)	ARHGAP35 (A435V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227891	NM_004491.5(ARHGAP35):c.1322A>G (p.Glu441Gly)	ARHGAP35 (E441G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242039	NM_004491.5(ARHGAP35):c.1378A>T (p.Met460Leu)	ARHGAP35 (M460L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1699373	NM_004491.5(ARHGAP35):c.1600C>T (p.Gln534Ter)	ARHGAP35 (Q534*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2238740	NM_004491.5(ARHGAP35):c.1710T>G (p.Ile570Met)	ARHGAP35 (I570M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528766	NM_004491.5(ARHGAP35):c.1718T>C (p.Leu573Ser)	ARHGAP35 (L573S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128798	NM_004491.5(ARHGAP35):c.1742C>T (p.Pro581Leu)	ARHGAP35 (P581L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782652	NM_004491.5(ARHGAP35):c.1743G>A (p.Pro581=)	ARHGAP35	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2561296	NM_004491.5(ARHGAP35):c.1751G>A (p.Arg584Gln)	ARHGAP35 (R584Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1679924	NM_004491.5(ARHGAP35):c.1800_1803del (p.Val601fs)	ARHGAP35 (V601fs)	Deletion (frameshift variant)	Martsolf syndrome 1	GLikely pathogenic
Select item 1727217	NM_004491.5(ARHGAP35):c.1849C>T (p.Arg617Ter)	ARHGAP35 (R617*)	Single nucleotide variant (nonsense)	Bilateral microphthalmos	GPathogenic
Select item 221320	NM_004491.5(ARHGAP35):c.1959_1960delinsAA (p.Pro654Thr)	ARHGAP35 (P654T)	Indel (missense variant)	Breast ductal adenocarcinoma	GUncertain significance
Select item 3128799	NM_004491.5(ARHGAP35):c.2035G>A (p.Glu679Lys)	ARHGAP35 (E679K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228218	NM_004491.5(ARHGAP35):c.2051C>G (p.Ser684Cys)	ARHGAP35 (S684C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275861	NM_004491.5(ARHGAP35):c.2066G>A (p.Arg689Gln)	ARHGAP35 (R689Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128800	NM_004491.5(ARHGAP35):c.2171T>C (p.Ile724Thr)	ARHGAP35 (I724T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518491	NM_004491.5(ARHGAP35):c.2230C>T (p.Arg744Cys)	ARHGAP35 (R744C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128801	NM_004491.5(ARHGAP35):c.2237T>C (p.Ile746Thr)	ARHGAP35 (I746T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256242	NM_004491.5(ARHGAP35):c.2395A>C (p.Ile799Leu)	ARHGAP35 (I799L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292859	NM_004491.5(ARHGAP35):c.2476A>G (p.Ile826Val)	ARHGAP35 (I826V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1679908	NM_004491.5(ARHGAP35):c.2565C>A (p.Tyr855Ter)	ARHGAP35 (Y855*)	Single nucleotide variant (nonsense)	Martsolf syndrome 1	GLikely pathogenic
Select item 3128802	NM_004491.5(ARHGAP35):c.2647A>G (p.Ile883Val)	ARHGAP35 (I883V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128803	NM_004491.5(ARHGAP35):c.2671G>A (p.Gly891Ser)	ARHGAP35 (G891S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456937	NM_004491.5(ARHGAP35):c.2674G>A (p.Ala892Thr)	ARHGAP35 (A892T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128804	NM_004491.5(ARHGAP35):c.2692A>G (p.Asn898Asp)	ARHGAP35 (N898D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2500753	NM_004491.5(ARHGAP35):c.2814dup (p.Lys939Ter)	ARHGAP35 (K939*)	Duplication (nonsense)	Neurodevelopmental disorder	GPathogenic
Select item 2304367	NM_004491.5(ARHGAP35):c.2828A>G (p.Glu943Gly)	ARHGAP35 (E943G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237561	NM_004491.5(ARHGAP35):c.2905A>C (p.Asn969His)	ARHGAP35 (N969H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494007	NM_004491.5(ARHGAP35):c.2921G>A (p.Gly974Glu)	ARHGAP35 (G974E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128805	NM_004491.5(ARHGAP35):c.2965A>G (p.Ile989Val)	ARHGAP35 (I989V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403097	NM_004491.5(ARHGAP35):c.2974T>C (p.Ser992Pro)	ARHGAP35 (S992P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380230	NM_004491.5(ARHGAP35):c.3022G>A (p.Asp1008Asn)	ARHGAP35 (D1008N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320126	NM_004491.5(ARHGAP35):c.3049G>C (p.Glu1017Gln)	ARHGAP35 (E1017Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1679909	NM_004491.5(ARHGAP35):c.3283_3286delinsT (p.Val1095_Lys1096delinsTer)	ARHGAP35	Indel (nonsense)	Martsolf syndrome 1	GLikely pathogenic
Select item 2412053	NM_004491.5(ARHGAP35):c.3319G>A (p.Val1107Met)	ARHGAP35 (V1107M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325141	NM_004491.5(ARHGAP35):c.3406A>G (p.Ser1136Gly)	ARHGAP35 (S1136G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774357	NM_004491.5(ARHGAP35):c.3492G>T (p.Arg1164=)	ARHGAP35	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1679913	NM_004491.5(ARHGAP35):c.3569_3570del (p.Glu1190fs)	ARHGAP35 (E1190fs)	Microsatellite (frameshift variant)	Martsolf syndrome 1	GLikely pathogenic
Select item 2550741	NM_004491.5(ARHGAP35):c.3700C>T (p.Arg1234Trp)	ARHGAP35 (R1234W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128806	NM_004491.5(ARHGAP35):c.3718G>A (p.Ala1240Thr)	ARHGAP35 (A1240T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1679925	NM_004491.5(ARHGAP35):c.3850C>T (p.Arg1284Trp)	ARHGAP35 (R1284W)	Single nucleotide variant (missense variant)	Martsolf syndrome 1	GLikely pathogenic
Select item 1679926	NM_004491.5(ARHGAP35):c.3992C>T (p.Pro1331Leu)	ARHGAP35 (P1331L)	Single nucleotide variant (missense variant)	Martsolf syndrome 1	GUncertain significance
Select item 1679911	NM_004491.5(ARHGAP35):c.4018G>A (p.Asp1340Asn)	ARHGAP35 (D1340N)	Single nucleotide variant (missense variant)	Martsolf syndrome 1	GLikely benign
Select item 2589796	NM_004491.5(ARHGAP35):c.4048C>T (p.Arg1350Trp)	ARHGAP35 (R1350W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1679903	NM_004491.5(ARHGAP35):c.4049G>A (p.Arg1350Gln)	ARHGAP35 (R1350Q)	Single nucleotide variant (missense variant)	Martsolf syndrome 1	GUncertain significance
Select item 1679904	NM_004491.5(ARHGAP35):c.4105C>G (p.His1369Asp)	ARHGAP35 (H1369D)	Single nucleotide variant (missense variant)	Martsolf syndrome 1	GUncertain significance
Select item 3128807	NM_004491.5(ARHGAP35):c.4123G>A (p.Val1375Ile)	ARHGAP35 (V1375I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1679905	NM_004491.5(ARHGAP35):c.4235T>C (p.Met1412Thr)	ARHGAP35 (M1412T)	Single nucleotide variant (missense variant)	Martsolf syndrome 1	GUncertain significance
Select item 1679906	NM_004491.5(ARHGAP35):c.4240G>A (p.Ala1414Thr)	ARHGAP35 (A1414T)	Single nucleotide variant (missense variant)	Martsolf syndrome 1	GLikely benign
Select item 1727215	NM_004491.5(ARHGAP35):c.4251del (p.Thr1418fs)	ARHGAP35 (T1418fs)	Deletion (frameshift variant)	Unilateral microphthalmos	GPathogenic
Select item 1679910	NM_004491.5(ARHGAP35):c.4255C>T (p.Arg1419Cys)	ARHGAP35 (R1419C)	Single nucleotide variant (missense variant)	Martsolf syndrome 1	GUncertain significance
Select item 3128808	NM_004491.5(ARHGAP35):c.4259C>G (p.Thr1420Ser)	ARHGAP35 (T1420S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232114	NM_004491.5(ARHGAP35):c.4270A>G (p.Ile1424Val)	ARHGAP35 (I1424V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1727218	NM_004491.5(ARHGAP35):c.4294T>C (p.Cys1432Arg)	ARHGAP35 (C1432R)	Single nucleotide variant (missense variant)	Anophthalmia	GUncertain significance
Select item 1679907	NM_004491.5(ARHGAP35):c.4297C>G (p.Pro1433Ala)	ARHGAP35 (P1433A)	Single nucleotide variant (missense variant)	Martsolf syndrome 1	GLikely benign
Select item 2411998	NM_004491.5(ARHGAP35):c.4316G>A (p.Arg1439Gln)	ARHGAP35 (R1439Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128809	NM_004491.5(ARHGAP35):c.4339G>A (p.Ala1447Thr)	ARHGAP35 (A1447T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128810	NM_004491.5(ARHGAP35):c.4363G>A (p.Val1455Met)	ARHGAP35 (V1455M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543816	NM_004491.5(ARHGAP35):c.4426T>A (p.Ser1476Thr)	ARHGAP35 (S1476T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1727216	NM_004491.5(ARHGAP35):c.4444del (p.Gln1482fs)	ARHGAP35 (Q1482fs)	Deletion (frameshift variant)	Irido-corneo-trabecular dysgenesis	GPathogenic
Select item 3062385	GRCh37/hg19 19q13.32(chr19:47185918-47435756)x3	AP2S1, ARHGAP35 +4 more	Copy number gain	not specified	GUncertain significance
Select item 2504578	GRCh37/hg19 19q13.32-13.33(chr19:47028919-48185409)	AP2S1, ARHGAP35 +25 more	Copy number gain	Coffin-Siris syndrome 12	GLikely pathogenic
Select item 1526668	GRCh37/hg19 19q13.32(chr19:46918881-47782258)	AP2S1, ARHGAP35 +18 more	Copy number gain	not specified	GUncertain significance
Select item 816087	GRCh37/hg19 19q13.32-13.33(chr19:47331662-48234260)x3	ZNF541, EHD2 +17 more	Copy number gain	not provided	GUncertain significance
Select item 816085	GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3	GPR4, LOC400706 +75 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	CLDND2, IGSF23 +293 more	Copy number gain	not provided	GPathogenic
Select item 686951	GRCh37/hg19 19q13.32(chr19:47313394-47446351)x3	AP2S1, ARHGAP35	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 625762	GRCh37/hg19 19q13.32-13.33(chr19:47036361-48525536)	AP2S1, ARHGAP35 +33 more	Copy number gain	not provided	GPathogenic
Select item 493602	GRCh37/hg19 19q13.32(chr19:47228251-47867279)x3	AP2S1, ARHGAP35 +13 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 441540	GRCh37/hg19 19q13.32-13.33(chr19:46404248-48488721)x1	AP2S1, ARHGAP35 +46 more	Copy number loss	See cases	GLikely pathogenic
Select item 393971	GRCh37/hg19 19q13.32(chr19:47450549-47880338)x3	ARHGAP35, BBC3 +9 more	Copy number gain	See cases	GLikely pathogenic

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Items: 92