ClinVar for Gene (Select 445328) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3427637	NM_001003702.3(ARHGEF35):c.811G>C (p.Glu271Gln)	ARHGEF35 (E271Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3427628	NM_001003702.3(ARHGEF35):c.1140G>T (p.Glu380Asp)	ARHGEF35 (E380D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3427618	NM_001003702.3(ARHGEF35):c.970G>A (p.Glu324Lys)	ARHGEF35 (E324K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3427608	NM_001003702.3(ARHGEF35):c.460C>T (p.Pro154Ser)	ARHGEF35 (P154S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3427597	NM_001003702.3(ARHGEF35):c.456T>G (p.Phe152Leu)	ARHGEF35 (F152L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3427592	NM_001003702.3(ARHGEF35):c.514A>C (p.Thr172Pro)	ARHGEF35 (T172P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3427583	NM_001003702.3(ARHGEF35):c.595G>A (p.Ala199Thr)	ARHGEF35 (A199T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3427576	NM_001003702.3(ARHGEF35):c.406A>T (p.Met136Leu)	ARHGEF35 (M136L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3427566	NM_001003702.3(ARHGEF35):c.1183A>G (p.Ser395Gly)	ARHGEF35 (S395G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3427556	NM_001003702.3(ARHGEF35):c.1027G>A (p.Glu343Lys)	ARHGEF35 (E343K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3427548	NM_001003702.3(ARHGEF35):c.1146G>C (p.Trp382Cys)	ARHGEF35 (W382C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3427539	NM_001003702.3(ARHGEF35):c.89G>A (p.Ser30Asn)	ARHGEF35 (S30N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3427531	NM_001003702.3(ARHGEF35):c.1040C>G (p.Thr347Ser)	ARHGEF35 (T347S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3392350	GRCh37/hg19 7q35(chr7:143218395-144079850)x1	ARHGEF35, ARHGEF5 +17 more	Copy number loss	not provided	GUncertain significance
Select item 3391898	GRCh37/hg19 7q33-36.1(chr7:136304444-148292957)x1	ADCK2, AGK +87 more	Copy number loss	not provided	GPathogenic
Select item 3391897	GRCh37/hg19 7q31.32-36.1(chr7:122190535-149944340)x1	ACTR3C, ADCK2 +199 more	Copy number loss	not provided	GPathogenic
Select item 3391847	GRCh37/hg19 7q34-36.3(chr7:142491993-159119707)x3	ABCB8, ABCF2 +121 more	Copy number gain	not provided	GPathogenic
Select item 3388390	NM_001003702.3(ARHGEF35):c.1284C>T (p.Leu428=)	ARHGEF35	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3313791	NM_001003702.3(ARHGEF35):c.442G>A (p.Glu148Lys)	ARHGEF35 (E148K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313782	NM_001003702.3(ARHGEF35):c.341G>A (p.Arg114Gln)	ARHGEF35 (R114Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3313771	NM_001003702.3(ARHGEF35):c.680T>C (p.Val227Ala)	ARHGEF35 (V227A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3313761	NM_001003702.3(ARHGEF35):c.1330C>A (p.Leu444Met)	ARHGEF35 (L444M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313755	NM_001003702.3(ARHGEF35):c.863G>C (p.Gly288Ala)	ARHGEF35 (G288A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313748	NM_001003702.3(ARHGEF35):c.1339G>A (p.Ala447Thr)	ARHGEF35 (A447T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3129290	NM_001003702.3(ARHGEF35):c.869G>C (p.Arg290Thr)	ARHGEF35 (R290T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129288	NM_001003702.3(ARHGEF35):c.731G>A (p.Gly244Glu)	ARHGEF35 (G244E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129287	NM_001003702.3(ARHGEF35):c.722G>A (p.Arg241Gln)	ARHGEF35 (R241Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3129284	NM_001003702.3(ARHGEF35):c.553C>T (p.Pro185Ser)	ARHGEF35 (P185S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3129283	NM_001003702.3(ARHGEF35):c.550T>C (p.Ser184Pro)	ARHGEF35 (S184P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3129282	NM_001003702.3(ARHGEF35):c.1342G>A (p.Ala448Thr)	ARHGEF35 (A448T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129281	NM_001003702.3(ARHGEF35):c.1246T>G (p.Ser416Ala)	ARHGEF35 (S416A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129280	NM_001003702.3(ARHGEF35):c.1142G>T (p.Ser381Ile)	ARHGEF35 (S381I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 2685272	GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1	CLCN1, RHEB +123 more	Copy number loss	not provided	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2658123	NM_001003702.3(ARHGEF35):c.1261C>G (p.Leu421Val)	ARHGEF35 (L421V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2658122	NM_001003702.3(ARHGEF35):c.1371A>G (p.Arg457=)	ARHGEF35	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2606919	NM_001003702.3(ARHGEF35):c.817A>G (p.Lys273Glu)	ARHGEF35 (K273E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592315	NM_001003702.3(ARHGEF35):c.559G>A (p.Glu187Lys)	ARHGEF35 (E187K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	ABCB8, ABCF2 +125 more	Copy number loss	not provided	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2541964	NM_001003702.3(ARHGEF35):c.667C>A (p.His223Asn)	ARHGEF35 (H223N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530118	NM_001003702.3(ARHGEF35):c.1195G>A (p.Glu399Lys)	ARHGEF35 (E399K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529623	NM_001003702.3(ARHGEF35):c.1285G>A (p.Val429Met)	ARHGEF35 (V429M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464987	NM_001003702.3(ARHGEF35):c.1115G>C (p.Ser372Thr)	ARHGEF35 (S372T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458173	NM_001003702.3(ARHGEF35):c.757G>T (p.Asp253Tyr)	ARHGEF35 (D253Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	CTAGE6, CTAGE8 +141 more	Deletion	not provided	GPathogenic
Select item 2393697	NM_001003702.3(ARHGEF35):c.298A>C (p.Thr100Pro)	ARHGEF35 (T100P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388732	NM_001003702.3(ARHGEF35):c.1219A>G (p.Met407Val)	ARHGEF35 (M407V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355050	NM_001003702.3(ARHGEF35):c.221C>T (p.Thr74Met)	ARHGEF35 (T74M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350016	NM_001003702.3(ARHGEF35):c.227C>T (p.Pro76Leu)	ARHGEF35 (P76L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347043	NM_001003702.3(ARHGEF35):c.656A>G (p.Gln219Arg)	ARHGEF35 (Q219R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2343536	NM_001003702.3(ARHGEF35):c.559G>C (p.Glu187Gln)	ARHGEF35 (E187Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314596	NM_001003702.3(ARHGEF35):c.1400G>A (p.Gly467Asp)	ARHGEF35 (G467D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313420	NM_001003702.3(ARHGEF35):c.1309A>G (p.Thr437Ala)	ARHGEF35 (T437A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286664	NM_001003702.3(ARHGEF35):c.874G>A (p.Gly292Arg)	ARHGEF35 (G292R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2269197	NM_001003702.3(ARHGEF35):c.1133A>G (p.Glu378Gly)	ARHGEF35 (E378G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256243	NM_001003702.3(ARHGEF35):c.946G>C (p.Gly316Arg)	ARHGEF35 (G316R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254488	NM_001003702.3(ARHGEF35):c.655C>G (p.Gln219Glu)	ARHGEF35 (Q219E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240418	NM_001003702.3(ARHGEF35):c.490G>A (p.Gly164Arg)	ARHGEF35 (G164R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234768	NM_001003702.3(ARHGEF35):c.376G>A (p.Ala126Thr)	ARHGEF35 (A126T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232517	NM_001003702.3(ARHGEF35):c.835G>A (p.Val279Ile)	ARHGEF35 (V279I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228793	NM_001003702.3(ARHGEF35):c.196G>A (p.Asp66Asn)	ARHGEF35 (D66N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204814	NM_001003702.3(ARHGEF35):c.784A>G (p.Ile262Val)	ARHGEF35 (I262V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807754	GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1	RAB19, RNY1 +123 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1707419	GRCh37/hg19 7q35(chr7:143425718-144075390)x1	ARHGEF35, ARHGEF5 +16 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1330183	GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1	EPHA1, EPHB6 +105 more	Copy number loss	Hypertelorism +7 more	GPathogenic
Select item 973042	GRCh37/hg19 7q35-36.3(chr7:143107740-156886246)x3	ABCB8, ABCF2 +96 more	Copy number gain	not provided	Gnot provided
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	GPathogenic
Select item 687979	GRCh37/hg19 7q34-35(chr7:141751875-147105208)x3	ARHGEF35, ARHGEF5 +44 more	Copy number gain	not provided	GUncertain significance
Select item 687739	GRCh37/hg19 7q35(chr7:143572320-144474990)x3	ARHGEF35, ARHGEF5 +16 more	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563421	GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1	ABCB8, ABCF2 +143 more	Copy number loss	not provided	GPathogenic
Select item 442966	GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1	ABCB8, ABCF2 +162 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442595	GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1	ABCB8, ABCF2 +138 more	Copy number loss	See cases	GPathogenic
Select item 441751	GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3	DGKI, DNAJB6 +166 more	Copy number gain	See cases	GPathogenic
Select item 226277	GRCh37/hg19 7q35-36.3(chr7:143839360-159138663)	CRYGN, CTAGE4 +89 more	Copy number loss	Abnormal esophagus morphology	GPathogenic
Select item 226182	GRCh37/hg19 7q35(chr7:143342375-143913713)	ARHGEF35, CTAGE4 +11 more	Copy number gain	Abnormal esophagus morphology	GBenign
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 155657	GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3	TRBC1, TRBC2 +230 more	Copy number gain	See cases	GUncertain significance
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 155173	GRCh38/hg38 7q35(chr7:143733925-144255312)x3	ARHGEF35, ARHGEF35-AS1 +20 more	Copy number gain	See cases	GUncertain significance
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	TRBC2, TRBD1 +455 more	Copy number loss	See cases	GPathogenic
Select item 149928	GRCh38/hg38 7q35(chr7:144186919-144354186)x1	ARHGEF35, ARHGEF35-AS1 +5 more	Copy number loss	See cases	GLikely benign
Select item 149927	GRCh38/hg38 7q35(chr7:144186919-144354186)x3	ARHGEF35, ARHGEF35-AS1 +5 more	Copy number gain	See cases	GLikely benign
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic

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