ClinVar for Gene (Select 51735) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3312790	NM_016340.6(RAPGEF6):c.4280G>A (p.Ser1427Asn)	RAPGEF6 (S1440N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312789	NM_016340.6(RAPGEF6):c.1487C>T (p.Thr496Ile)	RAPGEF6 (T496I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312788	NM_016340.6(RAPGEF6):c.1582T>C (p.Trp528Arg)	RAPGEF6 (W528R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312787	NM_016340.6(RAPGEF6):c.3171C>G (p.Asn1057Lys)	RAPGEF6 (N1062K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312786	NM_016340.6(RAPGEF6):c.1406G>A (p.Ser469Asn)	RAPGEF6 (S469N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312784	NM_016340.6(RAPGEF6):c.4498A>G (p.Arg1500Gly)	RAPGEF6 (R1500G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312783	NM_016340.6(RAPGEF6):c.4296T>G (p.Ser1432Arg)	RAPGEF6 (S1440R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312782	NM_016340.6(RAPGEF6):c.721G>T (p.Asp241Tyr)	RAPGEF6 (D241Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312781	NM_016340.6(RAPGEF6):c.3804G>C (p.Glu1268Asp)	RAPGEF6 (E1268D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312780	NM_016340.6(RAPGEF6):c.3656G>A (p.Ser1219Asn)	RAPGEF6 (S1219N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312779	NM_016340.6(RAPGEF6):c.419G>C (p.Arg140Thr)	RAPGEF6 (R140T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312778	NM_016340.6(RAPGEF6):c.3059T>C (p.Met1020Thr)	RAPGEF6 (M1020T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312777	NM_016340.6(RAPGEF6):c.3271C>T (p.Arg1091Cys)	RAPGEF6 (R1104C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312776	NM_016340.6(RAPGEF6):c.3559G>A (p.Val1187Ile)	RAPGEF6 (V1195I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242297	GRCh37/hg19 5q23.2-31.1(chr5:124864529-134720575)x1	FSTL4, GDF9 +63 more	Copy number loss	not provided	GPathogenic
Select item 3151621	NM_016340.6(RAPGEF6):c.746G>A (p.Arg249Gln)	RAPGEF6 (R249Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151620	NM_016340.6(RAPGEF6):c.700G>A (p.Glu234Lys)	RAPGEF6 (E234K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151619	NM_016340.6(RAPGEF6):c.566G>C (p.Ser189Thr)	RAPGEF6 (S189T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151618	NM_016340.6(RAPGEF6):c.494C>G (p.Ser165Cys)	RAPGEF6 (S165C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151617	NM_016340.6(RAPGEF6):c.485G>C (p.Ser162Thr)	RAPGEF6 (S162T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151616	NM_016340.6(RAPGEF6):c.4801G>C (p.Val1601Leu)	RAPGEF6 (V1504L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151615	NM_016340.6(RAPGEF6):c.4073C>T (p.Ala1358Val)	RAPGEF6 (A1358V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151614	NM_016340.6(RAPGEF6):c.400C>T (p.Pro134Ser)	RAPGEF6 (P134S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151613	NM_016340.6(RAPGEF6):c.3746G>A (p.Gly1249Asp)	RAPGEF6 (G1249D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151612	NM_016340.6(RAPGEF6):c.3418A>G (p.Thr1140Ala)	RAPGEF6 (T1140A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151611	NM_016340.6(RAPGEF6):c.3200+3025G>C	RAPGEF6 (S1073T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151610	NM_016340.6(RAPGEF6):c.3013A>G (p.Met1005Val)	RAPGEF6 (M1010V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151609	NM_016340.6(RAPGEF6):c.2938C>A (p.Leu980Ile)	RAPGEF6 (L985I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151608	NM_016340.6(RAPGEF6):c.2705G>C (p.Arg902Thr)	RAPGEF6 (R902T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151607	NM_016340.6(RAPGEF6):c.2653A>C (p.Ile885Leu)	RAPGEF6 (I885L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151606	NM_016340.6(RAPGEF6):c.2585T>C (p.Ile862Thr)	RAPGEF6 (I862T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151605	NM_016340.6(RAPGEF6):c.2574G>C (p.Gln858His)	RAPGEF6 (Q863H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151604	NM_016340.6(RAPGEF6):c.211G>A (p.Ala71Thr)	RAPGEF6 (A71T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151603	NM_016340.6(RAPGEF6):c.1949G>T (p.Gly650Val)	RAPGEF6 (G650V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151602	NM_016340.6(RAPGEF6):c.1613G>A (p.Arg538His)	RAPGEF6 (R538H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151601	NM_016340.6(RAPGEF6):c.1432G>A (p.Val478Ile)	RAPGEF6 (V478I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151600	NM_016340.6(RAPGEF6):c.142T>G (p.Leu48Val)	RAPGEF6 (L48V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151599	NM_016340.6(RAPGEF6):c.1286T>C (p.Ile429Thr)	RAPGEF6 (I429T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151598	NM_016340.6(RAPGEF6):c.1243A>G (p.Ile415Val)	RAPGEF6 (I415V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151597	NM_016340.6(RAPGEF6):c.1208G>T (p.Arg403Leu)	RAPGEF6 (R403L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685171	GRCh37/hg19 5q31.1(chr5:130696543-130904414)x1	CDC42SE2, RAPGEF6	Copy number loss	not provided	GUncertain significance
Select item 2655690	NM_016340.6(RAPGEF6):c.628-6T>G	RAPGEF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2655689	NM_016340.6(RAPGEF6):c.1563C>G (p.Ala521=)	RAPGEF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655688	NM_016340.6(RAPGEF6):c.1778A>G (p.Lys593Arg)	RAPGEF6 (K593R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2623811	NM_016340.6(RAPGEF6):c.521A>G (p.His174Arg)	RAPGEF6 (H174R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608994	NM_016340.6(RAPGEF6):c.3148G>A (p.Val1050Ile)	RAPGEF6 (V1055I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606693	NM_016340.6(RAPGEF6):c.2068C>T (p.Pro690Ser)	RAPGEF6 (P690S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597433	NM_016340.6(RAPGEF6):c.1273A>G (p.Ile425Val)	RAPGEF6 (I425V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597432	NM_016340.6(RAPGEF6):c.10C>T (p.Pro4Ser)	RAPGEF6 (P4S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589665	NM_016340.6(RAPGEF6):c.3194G>A (p.Arg1065Gln)	RAPGEF6 (R1065Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560945	NM_016340.6(RAPGEF6):c.991C>T (p.Pro331Ser)	RAPGEF6 (P331S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558918	NM_016340.6(RAPGEF6):c.1679G>C (p.Gly560Ala)	RAPGEF6 (G560A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557573	NM_016340.6(RAPGEF6):c.3323C>T (p.Ala1108Val)	RAPGEF6 (A1116V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556761	NM_016340.6(RAPGEF6):c.3200+3021C>T	RAPGEF6 (R1072W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537195	NM_016340.6(RAPGEF6):c.3322G>A (p.Ala1108Thr)	RAPGEF6 (A1116T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535161	NM_016340.6(RAPGEF6):c.4577A>T (p.His1526Leu)	RAPGEF6 (H1534L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529357	NM_016340.6(RAPGEF6):c.3955C>G (p.His1319Asp)	RAPGEF6 (H1327D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524995	NM_016340.6(RAPGEF6):c.4112G>A (p.Ser1371Asn)	RAPGEF6 (S1379N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519963	NM_016340.6(RAPGEF6):c.3616A>G (p.Ser1206Gly)	RAPGEF6 (S1219G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519741	NM_016340.6(RAPGEF6):c.4495G>A (p.Asp1499Asn)	RAPGEF6 (D1507N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518296	NM_016340.6(RAPGEF6):c.3296A>G (p.Lys1099Arg)	RAPGEF6 (K1099R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518076	NM_016340.6(RAPGEF6):c.3143G>A (p.Arg1048His)	RAPGEF6 (R1048H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506534	GRCh37/hg19 5q23.3-31.1(chr5:127800418-134002686)	ACSL6, ADAMTS19 +44 more	Copy number loss	Houge-Janssens syndrome 3	GPathogenic
Select item 2487249	NM_016340.6(RAPGEF6):c.2556C>G (p.Ser852Arg)	RAPGEF6 (S857R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481222	NM_016340.6(RAPGEF6):c.822T>G (p.Phe274Leu)	RAPGEF6 (F274L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459524	NM_016340.6(RAPGEF6):c.3200+3022G>A	RAPGEF6 (R1072Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456298	NM_016340.6(RAPGEF6):c.2272G>C (p.Val758Leu)	RAPGEF6 (V758L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412147	NM_016340.6(RAPGEF6):c.2825G>A (p.Arg942Gln)	RAPGEF6 (R942Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410146	NM_016340.6(RAPGEF6):c.3358G>C (p.Val1120Leu)	RAPGEF6 (V1133L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405962	NM_016340.6(RAPGEF6):c.427C>T (p.Arg143Trp)	RAPGEF6 (R143W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402527	NM_016340.6(RAPGEF6):c.3260A>G (p.Lys1087Arg)	RAPGEF6 (K1095R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391598	NM_016340.6(RAPGEF6):c.67G>C (p.Glu23Gln)	RAPGEF6 (E23Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389934	NM_016340.6(RAPGEF6):c.1385T>C (p.Leu462Ser)	RAPGEF6 (L462S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385132	NM_016340.6(RAPGEF6):c.1547G>A (p.Arg516Gln)	RAPGEF6 (R516Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380016	NM_016340.6(RAPGEF6):c.919A>G (p.Ile307Val)	RAPGEF6 (I307V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2373085	NM_016340.6(RAPGEF6):c.2541A>C (p.Glu847Asp)	RAPGEF6 (E847D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354168	NM_016340.6(RAPGEF6):c.2921G>C (p.Ser974Thr)	RAPGEF6 (S979T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354138	NM_016340.6(RAPGEF6):c.4679C>T (p.Ala1560Val)	RAPGEF6 (A1568V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349843	NM_016340.6(RAPGEF6):c.3424A>C (p.Thr1142Pro)	RAPGEF6 (T1142P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330552	NM_016340.6(RAPGEF6):c.902T>C (p.Val301Ala)	RAPGEF6 (V301A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321113	NM_016340.6(RAPGEF6):c.4550C>T (p.Ala1517Val)	RAPGEF6 (A1517V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316664	NM_016340.6(RAPGEF6):c.3979A>G (p.Thr1327Ala)	RAPGEF6 (T1327A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309055	NM_016340.6(RAPGEF6):c.3275G>A (p.Arg1092His)	RAPGEF6 (R1100H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300175	NM_016340.6(RAPGEF6):c.1613G>T (p.Arg538Leu)	RAPGEF6 (R538L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295286	NM_016340.6(RAPGEF6):c.2197C>G (p.Leu733Val)	RAPGEF6 (L733V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275442	NM_016340.6(RAPGEF6):c.3581A>C (p.Lys1194Thr)	RAPGEF6 (K1194T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272334	NM_016340.6(RAPGEF6):c.3011G>A (p.Ser1004Asn)	RAPGEF6 (S1004N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271039	NM_016340.6(RAPGEF6):c.721G>C (p.Asp241His)	RAPGEF6 (D241H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269807	NM_016340.6(RAPGEF6):c.2128A>G (p.Arg710Gly)	RAPGEF6 (R710G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269323	NM_016340.6(RAPGEF6):c.2327T>C (p.Val776Ala)	RAPGEF6 (V776A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268767	NM_016340.6(RAPGEF6):c.1219C>T (p.Arg407Trp)	RAPGEF6 (R407W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266649	NM_016340.6(RAPGEF6):c.4202C>T (p.Ala1401Val)	RAPGEF6 (A1414V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262959	NM_016340.6(RAPGEF6):c.3938C>T (p.Ala1313Val)	RAPGEF6 (A1313V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254646	NM_016340.6(RAPGEF6):c.2608A>G (p.Met870Val)	RAPGEF6 (M870V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2252276	NM_016340.6(RAPGEF6):c.3862C>G (p.Leu1288Val)	RAPGEF6 (L1296V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252010	NM_016340.6(RAPGEF6):c.574G>A (p.Gly192Ser)	RAPGEF6 (G192S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240729	NM_016340.6(RAPGEF6):c.2138G>A (p.Arg713Lys)	RAPGEF6 (R713K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233166	NM_016340.6(RAPGEF6):c.2243T>C (p.Ile748Thr)	RAPGEF6 (I748T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225435	NM_016340.6(RAPGEF6):c.2083G>T (p.Asp695Tyr)	RAPGEF6 (D695Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221867	NM_016340.6(RAPGEF6):c.4619A>T (p.Lys1540Met)	RAPGEF6 (K1540M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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