ARHGAP5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 154183	GRCh38/hg38 14q12-13.1(chr14:28803988-33234266)x1	AKAP6, AP4S1 +73 more	Copy number loss	See cases	GPathogenic
Select item 146008	GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1	AKAP6, AP4S1 +179 more	Copy number loss	See cases	GPathogenic
Select item 58523	GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3	INSM2, KLHL28 +237 more	Copy number gain	See cases	GPathogenic
Select item 154996	GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1	LOC126861917, LOC126861918 +225 more	Copy number loss	See cases	GPathogenic
Select item 560123	Single allele	ARHGAP5-AS1, DTD2 +35 more	Deletion	Mitochondrial complex I deficiency	GUncertain significance
Select item 2307329	NM_001030055.2(ARHGAP5):c.58C>T (p.Leu20Phe)	ARHGAP5 (L20F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2628643	NM_001030055.2(ARHGAP5):c.109T>G (p.Leu37Val)	ARHGAP5 (L37V)	Single nucleotide variant (missense variant)	ARHGAP5-related disorder	GUncertain significance
Select item 2517090	NM_001030055.2(ARHGAP5):c.144A>T (p.Glu48Asp)	ARHGAP5 (E48D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271739	NM_001030055.2(ARHGAP5):c.478T>G (p.Leu160Val)	ARHGAP5 (L160V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479014	NM_001030055.2(ARHGAP5):c.488T>C (p.Ile163Thr)	ARHGAP5 (I163T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312396	NM_001030055.2(ARHGAP5):c.509A>G (p.Asn170Ser)	ARHGAP5 (N170S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491410	NM_001030055.2(ARHGAP5):c.515A>C (p.Lys172Thr)	ARHGAP5 (K172T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253624	NM_001030055.2(ARHGAP5):c.641C>T (p.Ala214Val)	ARHGAP5 (A214V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2633747	NM_001030055.2(ARHGAP5):c.681_682del (p.Ala229fs)	ARHGAP5 (A229fs)	Deletion (frameshift variant)	ARHGAP5-related disorder	GUncertain significance
Select item 3128896	NM_001030055.2(ARHGAP5):c.722C>T (p.Ala241Val)	ARHGAP5 (A241V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210414	NM_001030055.2(ARHGAP5):c.757C>T (p.Pro253Ser)	ARHGAP5 (P253S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128897	NM_001030055.2(ARHGAP5):c.856T>C (p.Tyr286His)	ARHGAP5 (Y286H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403098	NM_001030055.2(ARHGAP5):c.871A>G (p.Lys291Glu)	ARHGAP5 (K291E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128898	NM_001030055.2(ARHGAP5):c.953C>G (p.Thr318Arg)	ARHGAP5 (T318R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335579	NM_001030055.2(ARHGAP5):c.992T>C (p.Ile331Thr)	ARHGAP5 (I331T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716006	NM_001030055.2(ARHGAP5):c.1026A>G (p.Leu342=)	ARHGAP5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3128878	NM_001030055.2(ARHGAP5):c.1073A>G (p.His358Arg)	ARHGAP5 (H358R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256006	NM_001030055.2(ARHGAP5):c.1102A>G (p.Met368Val)	ARHGAP5 (M368V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312398	NM_001030055.2(ARHGAP5):c.1115C>T (p.Ala372Val)	ARHGAP5 (A372V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786247	NM_001030055.2(ARHGAP5):c.1254A>G (p.Val418=)	ARHGAP5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2304741	NM_001030055.2(ARHGAP5):c.1280G>T (p.Arg427Met)	ARHGAP5 (R427M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128879	NM_001030055.2(ARHGAP5):c.1362G>A (p.Met454Ile)	ARHGAP5 (M454I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1696854	NM_001030055.2(ARHGAP5):c.1421T>C (p.Val474Ala)	ARHGAP5 (V474A)	Single nucleotide variant (missense variant)	Pulmonary artery atresia	GPathogenic
Select item 1679914	NM_001030055.2(ARHGAP5):c.1504del (p.Tyr502fs)	ARHGAP5 (Y502fs)	Deletion (frameshift variant)	Martsolf syndrome 1	GUncertain significance
Select item 2321598	NM_001030055.2(ARHGAP5):c.1683A>T (p.Gln561His)	ARHGAP5 (Q561H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128880	NM_001030055.2(ARHGAP5):c.1718C>G (p.Ala573Gly)	ARHGAP5 (A573G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531943	NM_001030055.2(ARHGAP5):c.1742A>G (p.His581Arg)	ARHGAP5 (H581R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128881	NM_001030055.2(ARHGAP5):c.1747C>T (p.Arg583Cys)	ARHGAP5 (R583C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312395	NM_001030055.2(ARHGAP5):c.1795T>C (p.Phe599Leu)	ARHGAP5 (F599L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298938	NM_001030055.2(ARHGAP5):c.1920A>C (p.Lys640Asn)	ARHGAP5 (K640N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269720	NM_001030055.2(ARHGAP5):c.2021T>G (p.Phe674Cys)	ARHGAP5 (F674C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233006	NM_001030055.2(ARHGAP5):c.2032A>G (p.Ile678Val)	ARHGAP5 (I678V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230260	NM_001030055.2(ARHGAP5):c.2048C>T (p.Ser683Phe)	ARHGAP5 (S683F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276076	NM_001030055.2(ARHGAP5):c.2055C>G (p.Ile685Met)	ARHGAP5 (I685M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531570	NM_001030055.2(ARHGAP5):c.2117C>A (p.Ser706Tyr)	ARHGAP5 (S706Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372579	NM_001030055.2(ARHGAP5):c.2134C>G (p.Pro712Ala)	ARHGAP5 (P712A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128882	NM_001030055.2(ARHGAP5):c.2156A>G (p.Gln719Arg)	ARHGAP5 (Q719R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786248	NM_001030055.2(ARHGAP5):c.2178A>G (p.Gln726=)	ARHGAP5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3128883	NM_001030055.2(ARHGAP5):c.2183C>T (p.Pro728Leu)	ARHGAP5 (P728L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312404	NM_001030055.2(ARHGAP5):c.2262G>C (p.Leu754Phe)	ARHGAP5 (L754F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290615	NM_001030055.2(ARHGAP5):c.2277C>G (p.His759Gln)	ARHGAP5 (H759Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789057	NM_001030055.2(ARHGAP5):c.2304T>C (p.Pro768=)	ARHGAP5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3128884	NM_001030055.2(ARHGAP5):c.2320T>C (p.Ser774Pro)	ARHGAP5 (S774P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1679912	NM_001030055.2(ARHGAP5):c.2366dup (p.Phe790fs)	ARHGAP5 (F790fs)	Duplication (frameshift variant)	Martsolf syndrome 1	GLikely pathogenic
Select item 3312394	NM_001030055.2(ARHGAP5):c.2402A>G (p.Asp801Gly)	ARHGAP5 (D801G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566144	NM_001030055.2(ARHGAP5):c.2518A>G (p.Ile840Val)	ARHGAP5 (I840V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265167	NM_001030055.2(ARHGAP5):c.2531A>G (p.Lys844Arg)	ARHGAP5 (K844R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232258	NM_001030055.2(ARHGAP5):c.2611T>G (p.Ser871Ala)	ARHGAP5 (S871A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336670	NM_001030055.2(ARHGAP5):c.2617G>A (p.Val873Ile)	ARHGAP5 (V873I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609307	NM_001030055.2(ARHGAP5):c.2802T>G (p.Phe934Leu)	ARHGAP5 (F934L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128885	NM_001030055.2(ARHGAP5):c.2830A>G (p.Met944Val)	ARHGAP5 (M944V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128886	NM_001030055.2(ARHGAP5):c.2842T>A (p.Ser948Thr)	ARHGAP5 (S948T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781285	NM_001030055.2(ARHGAP5):c.2858A>G (p.Asn953Ser)	ARHGAP5 (N953S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2321863	NM_001030055.2(ARHGAP5):c.2908A>G (p.Arg970Gly)	ARHGAP5 (R970G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786249	NM_001030055.2(ARHGAP5):c.2913C>T (p.Asp971=)	ARHGAP5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3128887	NM_001030055.2(ARHGAP5):c.2924A>G (p.Tyr975Cys)	ARHGAP5 (Y975C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380003	NM_001030055.2(ARHGAP5):c.3007A>G (p.Thr1003Ala)	ARHGAP5 (T1003A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312424	NM_001030055.2(ARHGAP5):c.3076A>T (p.Asn1026Tyr)	ARHGAP5 (N1026Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514027	NM_001030055.2(ARHGAP5):c.3095G>A (p.Arg1032His)	ARHGAP5 (R1032H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128888	NM_001030055.2(ARHGAP5):c.3227G>A (p.Arg1076Gln)	ARHGAP5 (R1076Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128889	NM_001030055.2(ARHGAP5):c.3251A>T (p.Asp1084Val)	ARHGAP5 (D1084V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128890	NM_001030055.2(ARHGAP5):c.3254T>C (p.Met1085Thr)	ARHGAP5 (M1085T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549198	NM_001030055.2(ARHGAP5):c.3284T>C (p.Ile1095Thr)	ARHGAP5 (I1095T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543652	NM_001030055.2(ARHGAP5):c.3290C>G (p.Thr1097Arg)	ARHGAP5 (T1097R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280860	NM_001030055.2(ARHGAP5):c.3290C>T (p.Thr1097Ile)	ARHGAP5 (T1097I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128891	NM_001030055.2(ARHGAP5):c.3326A>T (p.Tyr1109Phe)	ARHGAP5 (Y1109F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128892	NM_001030055.2(ARHGAP5):c.3340G>A (p.Asp1114Asn)	ARHGAP5 (D1114N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128893	NM_001030055.2(ARHGAP5):c.3352C>G (p.Arg1118Gly)	ARHGAP5 (R1118G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338777	NM_001030055.2(ARHGAP5):c.3443G>A (p.Arg1148Gln)	ARHGAP5 (R1148Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312416	NM_001030055.2(ARHGAP5):c.3461A>G (p.Lys1154Arg)	ARHGAP5 (K1154R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321974	NM_001030055.2(ARHGAP5):c.3503A>G (p.Tyr1168Cys)	ARHGAP5 (Y1168C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128894	NM_001030055.2(ARHGAP5):c.3508A>G (p.Arg1170Gly)	ARHGAP5 (R1170G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312419	NM_001030055.2(ARHGAP5):c.3551C>G (p.Ser1184Cys)	ARHGAP5 (S1184C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312411	NM_001030055.2(ARHGAP5):c.3557C>G (p.Thr1186Arg)	ARHGAP5 (T1186R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1176622	NM_001030055.2(ARHGAP5):c.3558_3562del (p.Gly1190fs)	ARHGAP5 (G1190fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2386886	NM_001030055.2(ARHGAP5):c.3577C>T (p.Arg1193Cys)	ARHGAP5 (R1193C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2281211	NM_001030055.2(ARHGAP5):c.3790C>G (p.Leu1264Val)	ARHGAP5 (L1264V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151231	GRCh38/hg38 14q12(chr14:32118959-32146527)x1	ARHGAP5	Copy number loss	See cases	GLikely benign
Select item 2514442	NM_001030055.2(ARHGAP5):c.4082C>T (p.Pro1361Leu)	ARHGAP5 (P1360L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2275863	NM_001030055.2(ARHGAP5):c.4288A>G (p.Thr1430Ala)	ARHGAP5 (T1430A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128895	NM_001030055.2(ARHGAP5):c.4397C>G (p.Pro1466Arg)	ARHGAP5 (P1465R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369412	NM_001030055.2(ARHGAP5):c.4430T>G (p.Val1477Gly)	ARHGAP5 (V1476G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243950	NC_000014.8:g.(?_30046444)_(32635573_?)del	AP4S1, ARHGAP5 +10 more	Deletion	Spastic paraplegia	GPathogenic
Select item 3063324	GRCh37/hg19 14q12-21.2(chr14:29190489-45325177)x1	AKAP6, AP4S1 +48 more	Copy number loss	not specified	GPathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 1809348	GRCh37/hg19 14q12-13.1(chr14:24959823-33415359)x1	AKAP6, AP4S1 +19 more	Copy number loss	not provided	GPathogenic
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic

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