RAPGEF6[gene] - ClinVar

Search results

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 58356	GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1	ACSL6, ACSL6-AS1 +200 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129995052, LOC129995053 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 545310	NC_000005.10:g.(?_131428263)_(132208822_?)del	ACSL6, ACSL6-AS1 +23 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 2354138	NM_016340.6(RAPGEF6):c.4679C>T (p.Ala1560Val)	RAPGEF6 (A1568V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 774633	NM_016340.6(RAPGEF6):c.4676T>A (p.Val1559Glu)	RAPGEF6 (V1559E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2212788	NM_016340.6(RAPGEF6):c.4639T>C (p.Ser1547Pro)	RAPGEF6 (S1547P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 776064	NM_016340.6(RAPGEF6):c.4465+10G>T	RAPGEF6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 718742	NM_016340.6(RAPGEF6):c.4395C>A (p.Gly1465=)	RAPGEF6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2266649	NM_016340.6(RAPGEF6):c.4202C>T (p.Ala1401Val)	RAPGEF6 (A1414V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524995	NM_016340.6(RAPGEF6):c.4112G>A (p.Ser1371Asn)	RAPGEF6 (S1379N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316664	NM_016340.6(RAPGEF6):c.3979A>G (p.Thr1327Ala)	RAPGEF6 (T1327A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529357	NM_016340.6(RAPGEF6):c.3955C>G (p.His1319Asp)	RAPGEF6 (H1327D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262959	NM_016340.6(RAPGEF6):c.3938C>T (p.Ala1313Val)	RAPGEF6 (A1313V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252276	NM_016340.6(RAPGEF6):c.3862C>G (p.Leu1288Val)	RAPGEF6 (L1296V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519963	NM_016340.6(RAPGEF6):c.3616A>G (p.Ser1206Gly)	RAPGEF6 (S1219G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275442	NM_016340.6(RAPGEF6):c.3581A>C (p.Lys1194Thr)	RAPGEF6 (K1194T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 709744	NM_016340.6(RAPGEF6):c.3525C>T (p.Pro1175=)	RAPGEF6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2349843	NM_016340.6(RAPGEF6):c.3424A>C (p.Thr1142Pro)	RAPGEF6 (T1142P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410146	NM_016340.6(RAPGEF6):c.3358G>C (p.Val1120Leu)	RAPGEF6 (V1133L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557573	NM_016340.6(RAPGEF6):c.3323C>T (p.Ala1108Val)	RAPGEF6 (A1116V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537195	NM_016340.6(RAPGEF6):c.3322G>A (p.Ala1108Thr)	RAPGEF6 (A1116T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518296	NM_016340.6(RAPGEF6):c.3296A>G (p.Lys1099Arg)	RAPGEF6 (K1099R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309055	NM_016340.6(RAPGEF6):c.3275G>A (p.Arg1092His)	RAPGEF6 (R1100H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402527	NM_016340.6(RAPGEF6):c.3260A>G (p.Lys1087Arg)	RAPGEF6 (K1095R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459524	NM_016340.6(RAPGEF6):c.3200+3022G>A	RAPGEF6 (R1072Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2556761	NM_016340.6(RAPGEF6):c.3200+3021C>T	RAPGEF6 (R1072W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2589665	NM_016340.6(RAPGEF6):c.3194G>A (p.Arg1065Gln)	RAPGEF6 (R1065Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608994	NM_016340.6(RAPGEF6):c.3148G>A (p.Val1050Ile)	RAPGEF6 (V1055I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518076	NM_016340.6(RAPGEF6):c.3143G>A (p.Arg1048His)	RAPGEF6 (R1048H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272334	NM_016340.6(RAPGEF6):c.3011G>A (p.Ser1004Asn)	RAPGEF6 (S1004N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 711931	NM_016340.6(RAPGEF6):c.2946T>C (p.Asp982=)	RAPGEF6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2354168	NM_016340.6(RAPGEF6):c.2921G>C (p.Ser974Thr)	RAPGEF6 (S979T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412147	NM_016340.6(RAPGEF6):c.2825G>A (p.Arg942Gln)	RAPGEF6 (R942Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254646	NM_016340.6(RAPGEF6):c.2608A>G (p.Met870Val)	RAPGEF6 (M870V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487249	NM_016340.6(RAPGEF6):c.2556C>G (p.Ser852Arg)	RAPGEF6 (S857R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373085	NM_016340.6(RAPGEF6):c.2541A>C (p.Glu847Asp)	RAPGEF6 (E847D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269323	NM_016340.6(RAPGEF6):c.2327T>C (p.Val776Ala)	RAPGEF6 (V776A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456298	NM_016340.6(RAPGEF6):c.2272G>C (p.Val758Leu)	RAPGEF6 (V758L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233166	NM_016340.6(RAPGEF6):c.2243T>C (p.Ile748Thr)	RAPGEF6 (I748T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295286	NM_016340.6(RAPGEF6):c.2197C>G (p.Leu733Val)	RAPGEF6 (L733V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240729	NM_016340.6(RAPGEF6):c.2138G>A (p.Arg713Lys)	RAPGEF6 (R713K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269807	NM_016340.6(RAPGEF6):c.2128A>G (p.Arg710Gly)	RAPGEF6 (R710G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225435	NM_016340.6(RAPGEF6):c.2083G>T (p.Asp695Tyr)	RAPGEF6 (D695Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606693	NM_016340.6(RAPGEF6):c.2068C>T (p.Pro690Ser)	RAPGEF6 (P690S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2558918	NM_016340.6(RAPGEF6):c.1679G>C (p.Gly560Ala)	RAPGEF6 (G560A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300175	NM_016340.6(RAPGEF6):c.1613G>T (p.Arg538Leu)	RAPGEF6 (R538L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2655689	NM_016340.6(RAPGEF6):c.1563C>G (p.Ala521=)	RAPGEF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2385132	NM_016340.6(RAPGEF6):c.1547G>A (p.Arg516Gln)	RAPGEF6 (R516Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389934	NM_016340.6(RAPGEF6):c.1385T>C (p.Leu462Ser)	RAPGEF6 (L462S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597433	NM_016340.6(RAPGEF6):c.1273A>G (p.Ile425Val)	RAPGEF6 (I425V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268767	NM_016340.6(RAPGEF6):c.1219C>T (p.Arg407Trp)	RAPGEF6 (R407W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560945	NM_016340.6(RAPGEF6):c.991C>T (p.Pro331Ser)	RAPGEF6 (P331S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380016	NM_016340.6(RAPGEF6):c.919A>G (p.Ile307Val)	RAPGEF6 (I307V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2330552	NM_016340.6(RAPGEF6):c.902T>C (p.Val301Ala)	RAPGEF6 (V301A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481222	NM_016340.6(RAPGEF6):c.822T>G (p.Phe274Leu)	RAPGEF6 (F274L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271039	NM_016340.6(RAPGEF6):c.721G>C (p.Asp241His)	RAPGEF6 (D241H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2252010	NM_016340.6(RAPGEF6):c.574G>A (p.Gly192Ser)	RAPGEF6 (G192S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623811	NM_016340.6(RAPGEF6):c.521A>G (p.His174Arg)	RAPGEF6 (H174R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405962	NM_016340.6(RAPGEF6):c.427C>T (p.Arg143Trp)	RAPGEF6 (R143W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 146119	GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1	LOC129994691, LOC129994692 +263 more	Copy number loss	See cases	GPathogenic
Select item 2391598	NM_016340.6(RAPGEF6):c.67G>C (p.Glu23Gln)	RAPGEF6 (E23Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597432	NM_016340.6(RAPGEF6):c.10C>T (p.Pro4Ser)	RAPGEF6 (P4S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2685171	GRCh37/hg19 5q31.1(chr5:130696543-130904414)x1	CDC42SE2, RAPGEF6	Copy number loss	not provided	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 1527197	GRCh37/hg19 5q31.1(chr5:130866660-130950390)	RAPGEF6	Copy number loss	not specified	GUncertain significance
Select item 1527196	GRCh37/hg19 5q31.1(chr5:130696542-130849407)	CDC42SE2, RAPGEF6	Copy number loss	not specified	GUncertain significance
Select item 1527195	GRCh37/hg19 5q31.1(chr5:130651968-130780558)	CDC42SE2, RAPGEF6	Copy number loss	not specified	GUncertain significance
Select item 1335875	NC_000005.9:g.(?_130766131)_(131044371_131044893)del	FNIP1, RAPGEF6	Deletion	Immunodeficiency 93 and hypertrophic cardiomyopathy	GPathogenic
Select item 830550	NC_000005.9:g.(?_130497712)_(131729974_?)del	ACSL6, CDC42SE2 +10 more	Deletion	Renal carnitine transport defect	GPathogenic
Select item 685805	GRCh37/hg19 5q31.1(chr5:130764058-131206406)x1	FNIP1, RAPGEF6	Copy number loss	not provided	GUncertain significance
Select item 685217	GRCh37/hg19 5q31.1(chr5:130786866-130899791)x1	RAPGEF6	Copy number loss	not provided	GUncertain significance
Select item 685215	GRCh37/hg19 5q31.1(chr5:130750880-130878215)x3	RAPGEF6	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 624508	GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1	ACSL6, ADAMTS19 +68 more	Copy number loss	not provided	GLikely pathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARAP3, CCDC69 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	ABLIM3, CBY3 +520 more	Copy number gain	See cases	GPathogenic

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Items: 89