ClinVar for Gene (Select 23229) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244640	NC_000023.10:g.(?_63004976)_(63413166_?)dup	AMER1, ARHGEF9	Duplication	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 3244629	NC_000023.10:g.(?_62857908)_(62875637_?)dup	ARHGEF9	Duplication	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 3244618	NC_000023.10:g.(?_62944392)_(63005025_?)dup	ARHGEF9	Duplication	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 3244607	NC_000023.10:g.(?_62857908)_(62863948_?)del	ARHGEF9	Deletion	Developmental and epileptic encephalopathy, 8	GPathogenic
Select item 3244596	NC_000023.10:g.(?_62875354)_(62875637_?)del	ARHGEF9	Deletion	Developmental and epileptic encephalopathy, 8	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	MIR1468, MIR1587 +2598 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3129386	NM_001353921.2(ARHGEF9):c.1558C>G (p.Pro520Ala)	ARHGEF9 (P411A +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3064688	NM_001353921.2(ARHGEF9):c.716A>G (p.Asp239Gly)	ARHGEF9 (D130G +7 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 3064027	NM_001353921.2(ARHGEF9):c.1126G>T (p.Asp376Tyr)	ARHGEF9 (D187Y +10 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	Gnot provided
Select item 3062482	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79122848)	ABCB7, AMER1 +92 more	Copy number gain	not specified	GPathogenic
Select item 3026422	NM_001353921.2(ARHGEF9):c.291C>T (p.Cys97=)	ARHGEF9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3022920	NM_001353921.2(ARHGEF9):c.1251G>A (p.Leu417=)	ARHGEF9	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 3021482	NM_001353921.2(ARHGEF9):c.304C>T (p.Arg102Trp)	ARHGEF9 (R108W +5 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 3020363	NM_001353921.2(ARHGEF9):c.91A>G (p.Asn31Asp)	ARHGEF9 (N24D +3 more)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 2982804	NM_001353921.2(ARHGEF9):c.256G>T (p.Val86Leu)	ARHGEF9 (V92L +5 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 2971059	NM_001353921.2(ARHGEF9):c.946-18A>G	ARHGEF9	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 2968217	NM_001353921.2(ARHGEF9):c.961G>C (p.Asp321His)	ARHGEF9 (D293H +6 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 2963241	NM_001353921.2(ARHGEF9):c.1025A>G (p.Asn342Ser)	ARHGEF9 (N275S +6 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 2919413	NM_001353921.2(ARHGEF9):c.211-13C>A	ARHGEF9	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 2912686	NM_001353921.2(ARHGEF9):c.815+18T>C	ARHGEF9	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 2912251	NM_001353921.2(ARHGEF9):c.402+20T>C	ARHGEF9	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 2910595	NM_001353921.2(ARHGEF9):c.815+10C>T	ARHGEF9	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 2898057	NM_001353921.2(ARHGEF9):c.1517G>A (p.Arg506His)	ARHGEF9 (R446H +10 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 2890790	NM_001353921.2(ARHGEF9):c.31-5C>T	ARHGEF9	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 2879216	NM_001353921.2(ARHGEF9):c.30+16C>T	ARHGEF9	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 2876083	NM_001353921.2(ARHGEF9):c.174C>T (p.Asp58=)	ARHGEF9	Single nucleotide variant (synonymous variant +2 more)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 2867924	NM_001353921.2(ARHGEF9):c.243G>A (p.Glu81=)	ARHGEF9	Single nucleotide variant (5 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 2864759	NM_001353921.2(ARHGEF9):c.31-29579C>T	ARHGEF9	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 2863342	NM_001353921.2(ARHGEF9):c.285A>G (p.Ser95=)	ARHGEF9	Single nucleotide variant (5 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 2856404	NM_001353921.2(ARHGEF9):c.216G>A (p.Trp72Ter)	ARHGEF9 (W65* +5 more)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 8	GPathogenic
Select item 2855646	NM_001353921.2(ARHGEF9):c.30+10T>C	ARHGEF9	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 8	GBenign
Select item 2853863	NM_001353921.2(ARHGEF9):c.1362G>T (p.Met454Ile)	ARHGEF9 (M265I +10 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 2853827	NM_001353921.2(ARHGEF9):c.31-29577C>T	ARHGEF9	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 2851457	NM_001353921.2(ARHGEF9):c.775C>G (p.Gln259Glu)	ARHGEF9 (Q150E +7 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 2849302	NM_001353921.2(ARHGEF9):c.403-12C>G	ARHGEF9	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 2848899	NM_001353921.2(ARHGEF9):c.946-13A>C	ARHGEF9	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 2846675	NM_001353921.2(ARHGEF9):c.1354G>C (p.Ala452Pro)	ARHGEF9 (A385P +11 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 2837176	NM_001353921.2(ARHGEF9):c.1157G>A (p.Gly386Asp)	ARHGEF9 (G319D +10 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 2830877	NM_001353921.2(ARHGEF9):c.945+5G>A	ARHGEF9	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 2824586	NM_001353921.2(ARHGEF9):c.219G>A (p.Val73=)	ARHGEF9	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 2820386	NM_001353921.2(ARHGEF9):c.775C>T (p.Gln259Ter)	ARHGEF9 (Q252* +7 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 8	GPathogenic
Select item 2814928	NM_001353921.2(ARHGEF9):c.583-13del	ARHGEF9	Deletion (intron variant)	Developmental and epileptic encephalopathy, 8	GBenign
Select item 2808729	NM_001353921.2(ARHGEF9):c.688G>A (p.Ala230Thr)	ARHGEF9 (A163T +7 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 2795044	NM_001353921.2(ARHGEF9):c.1406G>A (p.Arg469His)	ARHGEF9 (R280H +10 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 2794671	NM_001353921.2(ARHGEF9):c.643C>T (p.Leu215Phe)	ARHGEF9 (L187F +7 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 2791241	NM_001353921.2(ARHGEF9):c.519G>A (p.Leu173=)	ARHGEF9	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 2790421	NM_001353921.2(ARHGEF9):c.1551G>A (p.Arg517=)	ARHGEF9	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 2789769	NM_001353921.2(ARHGEF9):c.227A>G (p.Glu76Gly)	ARHGEF9 (E16G +5 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 2786707	NM_001353921.2(ARHGEF9):c.1122C>T (p.Asp374=)	ARHGEF9	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 2773234	NM_001353921.2(ARHGEF9):c.270C>T (p.His90=)	ARHGEF9	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 8	GBenign
Select item 2768927	NM_001353921.2(ARHGEF9):c.438G>A (p.Met146Ile)	ARHGEF9 (M37I +7 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 2767438	NM_001353921.2(ARHGEF9):c.946-17T>A	ARHGEF9	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 2762718	NM_001353921.2(ARHGEF9):c.1203T>G (p.Leu401=)	ARHGEF9	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 2760161	NM_001353921.2(ARHGEF9):c.1209C>G (p.Asn403Lys)	ARHGEF9 (N343K +10 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 2756457	NM_001353921.2(ARHGEF9):c.735C>T (p.Phe245=)	ARHGEF9	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 2751571	NM_001353921.2(ARHGEF9):c.270C>A (p.His90Gln)	ARHGEF9 (H23Q +5 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 2722986	NM_001353921.2(ARHGEF9):c.172G>A (p.Asp58Asn)	ARHGEF9 (D64N +3 more)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 2720664	NM_001353921.2(ARHGEF9):c.1078-18C>A	ARHGEF9	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 2719879	NM_001353921.2(ARHGEF9):c.1321+16G>T	ARHGEF9	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 8	GBenign
Select item 2718821	NM_001353921.2(ARHGEF9):c.1149T>G (p.Ile383Met)	ARHGEF9 (I311M +10 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 2705490	NM_001353921.2(ARHGEF9):c.1322-10del	ARHGEF9	Deletion (intron variant)	Developmental and epileptic encephalopathy, 8	GBenign
Select item 2698250	NM_001353921.2(ARHGEF9):c.248C>A (p.Pro83His)	ARHGEF9 (P16H +5 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 2698228	NM_001353921.2(ARHGEF9):c.1435C>T (p.Gln479Ter)	ARHGEF9 (Q370* +10 more)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 2693964	NM_001353921.2(ARHGEF9):c.476T>C (p.Ile159Thr)	ARHGEF9 (I14T +7 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 2693577	NM_001353921.2(ARHGEF9):c.1321+5G>T	ARHGEF9	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 2688595	NM_001353921.2(ARHGEF9):c.653T>C (p.Leu218Pro)	ARHGEF9 (L109P +7 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 2660739	NM_001353921.2(ARHGEF9):c.432G>C (p.Arg144Ser)	ARHGEF9 (R116S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2660738	NM_001353921.2(ARHGEF9):c.1420T>G (p.Ser474Ala)	ARHGEF9 (S285A +10 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2637150	NM_001353921.2(ARHGEF9):c.30+29959G>A	ARHGEF9, LOC121627974	Single nucleotide variant (intron variant +1 more)	ARHGEF9-related disorder	GUncertain significance
Select item 2633227	NM_001353921.2(ARHGEF9):c.503G>A (p.Gly168Asp)	ARHGEF9 (G101D +7 more)	Single nucleotide variant (missense variant)	ARHGEF9-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2620344	NM_001353921.2(ARHGEF9):c.1142T>C (p.Val381Ala)	ARHGEF9 (V272A +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2584341	NM_001353921.2(ARHGEF9):c.402+1G>C	ARHGEF9	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 8	GPathogenic
Select item 2584339	NM_001353921.2(ARHGEF9):c.813_814del (p.His271fs)	ARHGEF9 (H126fs +7 more)	Microsatellite (frameshift variant)	Developmental and epileptic encephalopathy, 8	GPathogenic
Select item 2582391	NM_001353921.2(ARHGEF9):c.1061T>G (p.Met354Arg)	ARHGEF9 (M245R +6 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 2580614	NM_001353921.2(ARHGEF9):c.1034G>T (p.Arg345Leu)	ARHGEF9 (R236L +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2571910	NM_001353921.2(ARHGEF9):c.94C>G (p.Arg32Gly)	ARHGEF9 (R25G +3 more)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 8 +1 more	GUncertain significance
Select item 2546673	NM_001353921.2(ARHGEF9):c.995T>C (p.Met332Thr)	ARHGEF9 (M332T +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2501758	NM_001353921.2(ARHGEF9):c.928_935del (p.Ser310fs)	ARHGEF9 (S165fs +7 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 8	GPathogenic
Select item 2501685	NM_001353921.2(ARHGEF9):c.334del (p.Ala112fs)	ARHGEF9 (A105fs +6 more)	Deletion (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 8	GLikely pathogenic
Select item 2499141	NM_001353921.2(ARHGEF9):c.72G>A (p.Trp24Ter)	ARHGEF9 (W17* +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely pathogenic
Select item 2463274	NM_001353921.2(ARHGEF9):c.403-4A>C	ARHGEF9	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2444118	NM_001353921.2(ARHGEF9):c.30+1G>A	ARHGEF9	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 8	GLikely pathogenic
Select item 2442538	NM_001353921.2(ARHGEF9):c.295T>A (p.Cys99Ser)	ARHGEF9 (C105S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2426092	NC_000023.10:g.(?_62857908)_(64196257_?)dup	AMER1, ARHGEF9 +3 more	Duplication	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 2421056	NM_001353921.2(ARHGEF9):c.403-17T>C	ARHGEF9	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 2412954	NM_001353921.2(ARHGEF9):c.695G>A (p.Arg232His)	ARHGEF9 (R123H +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412814	NM_001353921.2(ARHGEF9):c.921G>A (p.Trp307Ter)	ARHGEF9 (W162* +7 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 8	GLikely pathogenic
Select item 2189288	NM_001353921.2(ARHGEF9):c.1470C>T (p.Pro490=)	ARHGEF9	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 2187132	NM_001353921.2(ARHGEF9):c.1442C>T (p.Pro481Leu)	ARHGEF9 (P372L +10 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 2180930	NM_001353921.2(ARHGEF9):c.880C>T (p.Arg294Cys)	ARHGEF9 (R149C +7 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 2179887	NM_001353921.2(ARHGEF9):c.422G>A (p.Arg141Gln)	ARHGEF9 (R134Q +6 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 2176732	NM_001353921.2(ARHGEF9):c.1321+18A>G	ARHGEF9	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 2163467	NM_001353921.2(ARHGEF9):c.384C>T (p.His128=)	ARHGEF9	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 2147150	NM_001353921.2(ARHGEF9):c.582+10T>A	ARHGEF9	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 2147145	NM_001353921.2(ARHGEF9):c.180G>A (p.Glu60=)	ARHGEF9	Single nucleotide variant (synonymous variant +2 more)	Developmental and epileptic encephalopathy, 8	GConflicting classifications of pathogenicity
Select item 2138496	NM_001353921.2(ARHGEF9):c.121G>A (p.Val41Ile)	ARHGEF9 (V13I +3 more)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 2134076	NM_001353921.2(ARHGEF9):c.31-6C>T	ARHGEF9	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 8	GLikely benign
Select item 2131210	NM_001353921.2(ARHGEF9):c.1378C>T (p.Pro460Ser)	ARHGEF9 (P271S +10 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 2128453	NM_001353921.2(ARHGEF9):c.1022G>T (p.Arg341Leu)	ARHGEF9 (R281L +6 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance

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