ClinVar for Gene (Select 7984) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314174	NM_005435.4(ARHGEF5):c.4576A>G (p.Asn1526Asp)	ARHGEF5, LOC126860212 (N1526D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314164	NM_005435.4(ARHGEF5):c.1324G>C (p.Glu442Gln)	ARHGEF5 (E442Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314155	NM_005435.4(ARHGEF5):c.4108T>C (p.Tyr1370His)	ARHGEF5 (Y1370H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314145	NM_005435.4(ARHGEF5):c.798T>A (p.Asn266Lys)	ARHGEF5 (N266K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314138	NM_005435.4(ARHGEF5):c.4039G>A (p.Ala1347Thr)	ARHGEF5 (A1347T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314128	NM_005435.4(ARHGEF5):c.4409G>A (p.Arg1470Gln)	ARHGEF5 (R1470Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314117	NM_005435.4(ARHGEF5):c.4447C>T (p.Arg1483Cys)	ARHGEF5 (R1483C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314106	NM_005435.4(ARHGEF5):c.1271G>T (p.Gly424Val)	ARHGEF5 (G424V)	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 3129371	NM_005435.4(ARHGEF5):c.675G>C (p.Gln225His)	ARHGEF5 (Q225H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129370	NM_005435.4(ARHGEF5):c.478A>T (p.Thr160Ser)	ARHGEF5 (T160S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129369	NM_005435.4(ARHGEF5):c.4658T>A (p.Leu1553His)	ARHGEF5 (L1553H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129367	NM_005435.4(ARHGEF5):c.4535C>G (p.Ser1512Cys)	ARHGEF5, LOC126860212 (S1512C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129366	NM_005435.4(ARHGEF5):c.2602G>A (p.Gly868Arg)	ARHGEF5 (G868R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129365	NM_005435.4(ARHGEF5):c.2532C>G (p.Ile844Met)	ARHGEF5 (I844M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129364	NM_005435.4(ARHGEF5):c.1228C>G (p.Leu410Val)	ARHGEF5 (L410V)	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 2685273	GRCh37/hg19 7q35-36.1(chr7:144075624-149323060)x1	C7orf33, CNTNAP2 +18 more	Copy number loss	not provided	GUncertain significance
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 2658130	NM_005435.4(ARHGEF5):c.4149G>A (p.Pro1383=)	ARHGEF5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658129	NM_005435.4(ARHGEF5):c.2700G>A (p.Pro900=)	ARHGEF5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658128	NM_005435.4(ARHGEF5):c.1504G>T (p.Val502Leu)	ARHGEF5 (V502L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2658127	NM_005435.4(ARHGEF5):c.1092A>C (p.Ile364=)	ARHGEF5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658126	NM_005435.4(ARHGEF5):c.906C>T (p.Asp302=)	ARHGEF5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2609344	NM_005435.4(ARHGEF5):c.1346T>C (p.Leu449Pro)	ARHGEF5 (L449P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597209	NM_005435.4(ARHGEF5):c.218A>G (p.Glu73Gly)	ARHGEF5 (E73G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595544	NM_005435.4(ARHGEF5):c.1387A>G (p.Ile463Val)	ARHGEF5 (I463V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	NDUFB2, NOBOX +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 2568809	NM_005435.4(ARHGEF5):c.3571C>T (p.Arg1191Cys)	ARHGEF5 (R1191C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558736	NM_005435.4(ARHGEF5):c.256G>A (p.Val86Met)	ARHGEF5 (V86M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547993	NM_005435.4(ARHGEF5):c.992A>G (p.Gln331Arg)	ARHGEF5 (Q331R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2544687	NM_005435.4(ARHGEF5):c.793G>T (p.Val265Phe)	ARHGEF5 (V265F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540672	NM_005435.4(ARHGEF5):c.667C>T (p.His223Tyr)	ARHGEF5 (H223Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531654	NM_005435.4(ARHGEF5):c.640G>A (p.Glu214Lys)	ARHGEF5 (E214K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530152	NM_005435.4(ARHGEF5):c.2782A>G (p.Met928Val)	ARHGEF5 (M928V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526410	NM_005435.4(ARHGEF5):c.875G>A (p.Gly292Glu)	ARHGEF5 (G292E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520660	NM_005435.4(ARHGEF5):c.3898G>A (p.Val1300Ile)	ARHGEF5 (V1300I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2509467	NM_005435.4(ARHGEF5):c.1031A>G (p.Lys344Arg)	ARHGEF5 (K344R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496548	NM_005435.4(ARHGEF5):c.2891C>T (p.Ala964Val)	ARHGEF5 (A964V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475952	NM_005435.4(ARHGEF5):c.1430A>G (p.Lys477Arg)	ARHGEF5 (K477R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469846	NM_005435.4(ARHGEF5):c.2425T>C (p.Tyr809His)	ARHGEF5 (Y809H)	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 2406364	NM_005435.4(ARHGEF5):c.2441C>T (p.Pro814Leu)	ARHGEF5 (P814L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399884	NM_005435.4(ARHGEF5):c.2684G>A (p.Arg895His)	ARHGEF5 (R895H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362145	NM_005435.4(ARHGEF5):c.343C>G (p.Gln115Glu)	ARHGEF5 (Q115E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354855	NM_005435.4(ARHGEF5):c.2577G>T (p.Arg859Ser)	ARHGEF5 (R859S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349955	NM_005435.4(ARHGEF5):c.4025C>T (p.Thr1342Met)	ARHGEF5 (T1342M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348497	NM_005435.4(ARHGEF5):c.3858C>G (p.Ser1286Arg)	ARHGEF5 (S1286R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2342777	NM_005435.4(ARHGEF5):c.2378C>T (p.Ser793Phe)	ARHGEF5 (S793F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324398	NM_005435.4(ARHGEF5):c.4481T>G (p.Ile1494Ser)	ARHGEF5 (I1494S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320994	NM_005435.4(ARHGEF5):c.2113C>A (p.Pro705Thr)	ARHGEF5 (P705T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313381	NM_005435.4(ARHGEF5):c.4148C>T (p.Pro1383Leu)	ARHGEF5 (P1383L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308624	NM_005435.4(ARHGEF5):c.242A>G (p.Glu81Gly)	ARHGEF5 (E81G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303969	NM_005435.4(ARHGEF5):c.703C>G (p.Gln235Glu)	ARHGEF5 (Q235E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302286	NM_005435.4(ARHGEF5):c.3090C>A (p.Asn1030Lys)	ARHGEF5 (N1030K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302220	NM_005435.4(ARHGEF5):c.4571G>A (p.Arg1524Gln)	ARHGEF5, LOC126860212 (R1524Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278925	NM_005435.4(ARHGEF5):c.1090A>G (p.Ile364Val)	ARHGEF5 (I364V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276671	NM_005435.4(ARHGEF5):c.1631G>T (p.Arg544Met)	ARHGEF5 (R544M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272719	NM_005435.4(ARHGEF5):c.1287G>A (p.Met429Ile)	ARHGEF5 (M429I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255517	NM_005435.4(ARHGEF5):c.3013T>G (p.Trp1005Gly)	ARHGEF5 (W1005G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212905	NM_005435.4(ARHGEF5):c.2876A>T (p.His959Leu)	ARHGEF5 (H959L)	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 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 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 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 149558	GRCh38/hg38 7q35-36.1(chr7:143596735-150089125)x4	ACTR3C, ARHGEF35 +172 more	Copy number gain	See cases	GLikely pathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129999721, LOC129999722 +707 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 146871	GRCh38/hg38 7q35(chr7:143735880-144409525)x3	ARHGEF35, ARHGEF35-AS1 +27 more	Copy number gain	See cases	GLikely benign

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