RAPGEF1[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 104

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	ABL1, ABO +536 more	Copy number gain	See cases	GPathogenic
Select item 59135	GRCh38/hg38 9q34.11-34.13(chr9:129949815-132342490)x1	LOC130002822, LOC130002823 +160 more	Copy number loss	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC130003057, LOC130003058 +656 more	Copy number gain	See cases	GPathogenic
Select item 59909	GRCh38/hg38 9q34.13(chr9:131261516-131741175)x3	RAPGEF1, SNORD62A +57 more	Copy number gain	See cases	GPathogenic
Select item 1274200	NM_001377935.1(RAPGEF1):c.*908C>T	RAPGEF1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2523491	NM_001377935.1(RAPGEF1):c.3776G>A (p.Arg1259Gln)	RAPGEF1 (R1072Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312745	NM_001377935.1(RAPGEF1):c.3664G>A (p.Asp1222Asn)	RAPGEF1 (D1036N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274360	NM_001377935.1(RAPGEF1):c.3494C>T (p.Pro1165Leu)	RAPGEF1 (P978L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151525	NM_001377935.1(RAPGEF1):c.3392A>G (p.Glu1131Gly)	RAPGEF1 (E1131G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492616	NM_001377935.1(RAPGEF1):c.3392A>C (p.Glu1131Ala)	RAPGEF1 (E1131A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659635	NM_001377935.1(RAPGEF1):c.3251T>C (p.Met1084Thr)	RAPGEF1 (M1047T +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2290752	NM_001377935.1(RAPGEF1):c.3250A>G (p.Met1084Val)	RAPGEF1 (M1047V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296267	NM_001377935.1(RAPGEF1):c.3084T>G (p.His1028Gln)	RAPGEF1 (H1028Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299229	NM_001377935.1(RAPGEF1):c.3056C>T (p.Pro1019Leu)	RAPGEF1 (P812L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151524	NM_001377935.1(RAPGEF1):c.3054G>T (p.Arg1018Ser)	RAPGEF1 (R832S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223752	NM_001377935.1(RAPGEF1):c.3040G>C (p.Gly1014Arg)	RAPGEF1 (G845R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300211	NM_001377935.1(RAPGEF1):c.2933A>C (p.Asn978Thr)	RAPGEF1 (N771T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211291	NM_001377935.1(RAPGEF1):c.2933A>G (p.Asn978Ser)	RAPGEF1 (N941S +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3312743	NM_001377935.1(RAPGEF1):c.2921G>A (p.Arg974His)	RAPGEF1 (R805H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553932	NM_001377935.1(RAPGEF1):c.2748G>C (p.Glu916Asp)	RAPGEF1 (E709D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322003	NM_001377935.1(RAPGEF1):c.2698T>G (p.Leu900Val)	RAPGEF1 (L713V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710212	NM_001377935.1(RAPGEF1):c.2649G>A (p.Gly883=)	RAPGEF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2382966	NM_001377935.1(RAPGEF1):c.2627C>T (p.Pro876Leu)	RAPGEF1 (P669L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151523	NM_001377935.1(RAPGEF1):c.2542G>A (p.Glu848Lys)	RAPGEF1 (E661K +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151522	NM_001377935.1(RAPGEF1):c.2531C>T (p.Ser844Leu)	RAPGEF1 (S676L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284551	NM_001377935.1(RAPGEF1):c.2515C>G (p.Pro839Ala)	RAPGEF1 (P632A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590535	NM_001377935.1(RAPGEF1):c.2467G>A (p.Val823Ile)	RAPGEF1 (V823I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347026	NM_001377935.1(RAPGEF1):c.1871C>T (p.Pro624Leu)	RAPGEF1 (P586L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151521	NM_001377935.1(RAPGEF1):c.1868C>G (p.Ala623Gly)	RAPGEF1 (A585G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520794	NM_001377935.1(RAPGEF1):c.1855G>A (p.Val619Met)	RAPGEF1 (V602M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412390	NM_001377935.1(RAPGEF1):c.1753A>G (p.Met585Val)	RAPGEF1 (M547V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 222969	NM_001377935.1(RAPGEF1):c.1712A>G (p.Tyr571Cys)	RAPGEF1 (Y572C +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2385691	NM_001377935.1(RAPGEF1):c.1654G>A (p.Gly552Ser)	RAPGEF1 (G553S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151520	NM_001377935.1(RAPGEF1):c.1612C>G (p.Pro538Ala)	RAPGEF1 (P489A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151518	NM_001377935.1(RAPGEF1):c.1565C>T (p.Ala522Val)	RAPGEF1 (A505V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286549	NM_001377935.1(RAPGEF1):c.1555G>A (p.Val519Ile)	RAPGEF1 (V502I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151517	NM_001377935.1(RAPGEF1):c.1538C>T (p.Thr513Ile)	RAPGEF1 (T496I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151516	NM_001377935.1(RAPGEF1):c.1513A>G (p.Ile505Val)	RAPGEF1 (I467V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1331664	NM_001377935.1(RAPGEF1):c.1505A>G (p.Tyr502Cys)	RAPGEF1 (Y453C +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2299107	NM_001377935.1(RAPGEF1):c.1472G>A (p.Cys491Tyr)	RAPGEF1 (C442Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460443	NM_001377935.1(RAPGEF1):c.1462G>A (p.Gly488Ser)	RAPGEF1 (G489S +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2358238	NM_001377935.1(RAPGEF1):c.1406C>T (p.Thr469Met)	RAPGEF1 (T431M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151515	NM_001377935.1(RAPGEF1):c.1331G>T (p.Gly444Val)	RAPGEF1 (G427V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328966	NM_001377935.1(RAPGEF1):c.1305G>C (p.Leu435Phe)	RAPGEF1 (L386F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268581	NM_001377935.1(RAPGEF1):c.1208A>G (p.Tyr403Cys)	RAPGEF1 (Y386C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312741	NM_001377935.1(RAPGEF1):c.1137G>T (p.Glu379Asp)	RAPGEF1 (E341D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302847	NM_001377935.1(RAPGEF1):c.1090C>T (p.Arg364Cys)	RAPGEF1 (R347C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295284	NM_001377935.1(RAPGEF1):c.1087C>A (p.Pro363Thr)	RAPGEF1 (P314T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372354	NM_001377935.1(RAPGEF1):c.1079G>A (p.Gly360Glu)	RAPGEF1 (G361E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151532	NM_001377935.1(RAPGEF1):c.976G>A (p.Ala326Thr)	RAPGEF1 (A288T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219872	NM_001377935.1(RAPGEF1):c.976G>C (p.Ala326Pro)	RAPGEF1 (A288P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151531	NM_001377935.1(RAPGEF1):c.974G>A (p.Arg325Gln)	RAPGEF1 (R325Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151530	NM_001377935.1(RAPGEF1):c.932C>T (p.Ala311Val)	RAPGEF1 (A311V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312744	NM_001377935.1(RAPGEF1):c.878G>A (p.Arg293Gln)	RAPGEF1 (R276Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312742	NM_001377935.1(RAPGEF1):c.869C>G (p.Pro290Arg)	RAPGEF1 (P273R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711399	NM_001377935.1(RAPGEF1):c.834G>A (p.Thr278=)	RAPGEF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2388812	NM_001377935.1(RAPGEF1):c.812C>G (p.Thr271Ser)	RAPGEF1 (T271S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376425	NM_001377935.1(RAPGEF1):c.757C>A (p.Leu253Met)	RAPGEF1 (L236M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151528	NM_001377935.1(RAPGEF1):c.754C>G (p.Pro252Ala)	RAPGEF1 (P235A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617882	NM_001377935.1(RAPGEF1):c.752T>G (p.Leu251Arg)	RAPGEF1 (L252R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151527	NM_001377935.1(RAPGEF1):c.689C>T (p.Pro230Leu)	RAPGEF1 (P181L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659636	NM_001377935.1(RAPGEF1):c.601A>G (p.Met201Val)	RAPGEF1 (M152V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3151526	NM_001377935.1(RAPGEF1):c.521G>A (p.Arg174Gln)	RAPGEF1 (R157Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607189	NM_001377935.1(RAPGEF1):c.158C>T (p.Pro53Leu)	RAPGEF1 (P42L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC124375238, LOC124375239 +569 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238668	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238667	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	LOC130002921, LOC130002922 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238666	GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	LOC121366034, LOC121366035 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238664	GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	SARDH, SEC16A +568 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238663	GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 58500	GRCh38/hg38 9q34.13(chr9:131702422-132271840)x3	LOC113839534, LOC121366032 +25 more	Copy number gain	See cases	GUncertain significance
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	HMCN2, IER5L +147 more	Duplication	not provided	GUncertain significance
Select item 3245116	NC_000009.11:g.(?_131346980)_(135942612_?)dup	BARHL1, C9orf50 +62 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3063111	GRCh37/hg19 9q34.13(chr9:134382079-134513578)x1	POMT1, RAPGEF1 +1 more	Copy number loss	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2425935	NC_000009.11:g.(?_131857676)_(135942612_?)dup	ABL1, AIF1L +45 more	Duplication	not provided	GUncertain significance
Select item 2425485	NC_000009.11:g.(?_133884602)_(135942612_?)dup	AIF1L, AK8 +21 more	Duplication	not provided	GUncertain significance
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 652388	NC_000009.11:g.(?_134379574)_(138678377_?)dup	ABO, ADAMTS13 +55 more	Duplication	Ehlers-Danlos syndrome, classic type	GUncertain significance
Select item 625553	GRCh37/hg19 9q34.11-34.13(chr9:131670024-134514071)	ABL1, AIF1L +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

<< First< Prev

Page of 2