RAPGEF2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	LOC126807210, LOC126807211 +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC126807213, LOC126807214 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132089068, LOC132089069 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC126807202, LOC126807203 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	LOC129993194, LOC129993195 +903 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 146396	GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1	ARFIP1, ASIC5 +210 more	Copy number loss	See cases	GLikely pathogenic
Select item 153493	GRCh38/hg38 4q32.1-33(chr4:155162982-170959553)x1	AADAT, ANP32C +243 more	Copy number loss	See cases	GPathogenic
Select item 58047	GRCh38/hg38 4q32.1(chr4:156252927-160451424)x3	C4orf46, ETFDH +56 more	Copy number gain	See cases	GPathogenic
Select item 155554	GRCh38/hg38 4q32.1-32.2(chr4:156499748-163386407)x3	LOC112939921, LOC121725192 +84 more	Copy number gain	See cases	GLikely pathogenic
Select item 147409	GRCh38/hg38 4q32.1-32.3(chr4:158387928-166845726)x3	ANP32C, APELA +130 more	Copy number gain	See cases	GPathogenic
Select item 149528	GRCh38/hg38 4q32.1(chr4:158598730-160080941)x3	C4orf46, ETFDH +31 more	Copy number gain	See cases	GUncertain significance
Select item 3065187	NM_001394067.2(RAPGEF2):c.53C>T (p.Pro18Leu)	LOC129993307, RAPGEF2 (P18L)	Single nucleotide variant (missense variant)	Epilepsy, familial adult myoclonic, 7	GUncertain significance
Select item 1327937	NM_001394067.2(RAPGEF2):c.282-12C>A	RAPGEF2	Single nucleotide variant (intron variant)	Epilepsy, familial adult myoclonic, 7	GBenign
Select item 2477213	NM_001394067.2(RAPGEF2):c.543+24368A>G	RAPGEF2 (K2E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319365	NM_001394067.2(RAPGEF2):c.543+24380A>C	RAPGEF2 (I6L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302611	NM_001394067.2(RAPGEF2):c.543+24419C>A	RAPGEF2 (H19N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 720334	NM_001394067.2(RAPGEF2):c.591A>C (p.Pro197=)	RAPGEF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2223405	NM_001394067.2(RAPGEF2):c.611C>A (p.Ser204Tyr)	RAPGEF2 (S204Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347019	NM_001394067.2(RAPGEF2):c.671A>G (p.Tyr224Cys)	RAPGEF2 (Y224C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 996945	NM_001394067.2(RAPGEF2):c.819G>C (p.Glu273Asp)	RAPGEF2 (E112D +2 more)	Single nucleotide variant (missense variant)	Epilepsy, familial adult myoclonic, 7	GUncertain significance
Select item 767981	NM_001394067.2(RAPGEF2):c.854-10T>C	RAPGEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2655160	NM_001394067.2(RAPGEF2):c.880T>C (p.Leu294=)	RAPGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2559889	NM_001394067.2(RAPGEF2):c.1113G>A (p.Met371Ile)	RAPGEF2 (M255I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1327939	NM_001394067.2(RAPGEF2):c.1303-68TG[17]	RAPGEF2	Microsatellite (intron variant)	Epilepsy, familial adult myoclonic, 7	GBenign
Select item 1327938	NM_001394067.2(RAPGEF2):c.1303-68TG[16]	RAPGEF2	Microsatellite (intron variant)	Epilepsy, familial adult myoclonic, 7	GBenign
Select item 3151551	NM_001394067.2(RAPGEF2):c.1394C>G (p.Thr465Ser)	RAPGEF2 (T304S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151552	NM_001394067.2(RAPGEF2):c.1405A>G (p.Ser469Gly)	RAPGEF2 (S469G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737606	NM_001394067.2(RAPGEF2):c.1432T>C (p.Leu478=)	RAPGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3151553	NM_001394067.2(RAPGEF2):c.1447G>C (p.Asp483His)	RAPGEF2 (D322H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730551	NM_001394067.2(RAPGEF2):c.1512C>T (p.Asp504=)	RAPGEF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2282091	NM_001394067.2(RAPGEF2):c.1537C>G (p.Arg513Gly)	RAPGEF2 (R352G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767982	NM_001394067.2(RAPGEF2):c.1608C>T (p.Ile536=)	RAPGEF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2480496	NM_001394067.2(RAPGEF2):c.1657T>A (p.Ser553Thr)	RAPGEF2 (S553T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151533	NM_001394067.2(RAPGEF2):c.1812C>G (p.Asn604Lys)	RAPGEF2 (N443K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151534	NM_001394067.2(RAPGEF2):c.1870G>A (p.Val624Met)	RAPGEF2 (V463M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337044	NM_001394067.2(RAPGEF2):c.2105G>A (p.Arg702Gln)	RAPGEF2 (R586Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270883	NM_001394067.2(RAPGEF2):c.2407G>C (p.Ala803Pro)	RAPGEF2 (A803P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615204	NM_001394067.2(RAPGEF2):c.2651C>T (p.Thr884Ile)	LOC123493232, RAPGEF2 (T723I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253728	NM_001394067.2(RAPGEF2):c.2803G>C (p.Glu935Gln)	RAPGEF2 (E774Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307433	NM_001394067.2(RAPGEF2):c.2865A>G (p.Ile955Met)	RAPGEF2 (I955M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777149	NM_001394067.2(RAPGEF2):c.2928C>T (p.Asn976=)	RAPGEF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3151536	NM_001394067.2(RAPGEF2):c.2935C>T (p.Pro979Ser)	RAPGEF2 (P818S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151537	NM_001394067.2(RAPGEF2):c.2966A>G (p.Lys989Arg)	RAPGEF2 (K873R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151538	NM_001394067.2(RAPGEF2):c.3201C>A (p.His1067Gln)	RAPGEF2 (H1067Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151539	NM_001394067.2(RAPGEF2):c.3241A>T (p.Met1081Leu)	RAPGEF2 (M920L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712553	NM_001394067.2(RAPGEF2):c.3503-5A>G	RAPGEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3151540	NM_001394067.2(RAPGEF2):c.3565G>A (p.Ala1189Thr)	RAPGEF2 (A1073T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655161	NM_001394067.2(RAPGEF2):c.3657C>T (p.Ala1219=)	RAPGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1327940	NM_001394067.2(RAPGEF2):c.3713-10del	RAPGEF2	Deletion (intron variant)	Epilepsy, familial adult myoclonic, 7	GBenign
Select item 2655162	NM_001394067.2(RAPGEF2):c.3819G>A (p.Ser1273=)	RAPGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 777150	NM_001394067.2(RAPGEF2):c.3873T>G (p.Thr1291=)	RAPGEF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2655163	NM_001394067.2(RAPGEF2):c.3888T>C (p.Gly1296=)	RAPGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2322812	NM_001394067.2(RAPGEF2):c.3967T>C (p.Ser1323Pro)	RAPGEF2 (S1162P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151541	NM_001394067.2(RAPGEF2):c.3988G>A (p.Asp1330Asn)	RAPGEF2 (D1194N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383378	NM_001394067.2(RAPGEF2):c.3990T>A (p.Asp1330Glu)	RAPGEF2 (D1194E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480681	NM_001394067.2(RAPGEF2):c.3998G>T (p.Arg1333Leu)	RAPGEF2 (R1172L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600114	NM_001394067.2(RAPGEF2):c.4018A>G (p.Ile1340Val)	RAPGEF2 (I1179V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216770	NM_001394067.2(RAPGEF2):c.4046G>T (p.Arg1349Met)	RAPGEF2 (R1233M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151542	NM_001394067.2(RAPGEF2):c.4089G>C (p.Leu1363Phe)	RAPGEF2 (L1202F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151543	NM_001394067.2(RAPGEF2):c.4097A>G (p.Tyr1366Cys)	RAPGEF2 (Y1205C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234298	NM_001394067.2(RAPGEF2):c.4110C>T (p.Ser1370=)	RAPGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3151545	NM_001394067.2(RAPGEF2):c.4268C>T (p.Thr1423Met)	RAPGEF2 (T1423M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366507	NM_001394067.2(RAPGEF2):c.4320T>G (p.Phe1440Leu)	RAPGEF2 (F1279L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151546	NM_001394067.2(RAPGEF2):c.4333G>C (p.Asp1445His)	RAPGEF2 (D1325H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151547	NM_001394067.2(RAPGEF2):c.4362C>G (p.Ser1454Arg)	RAPGEF2 (S1454R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151548	NM_001394067.2(RAPGEF2):c.4375A>G (p.Ile1459Val)	RAPGEF2 (I1343V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230651	NM_001394067.2(RAPGEF2):c.4379T>C (p.Met1460Thr)	RAPGEF2 (M1344T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460935	NM_001394067.2(RAPGEF2):c.4390C>T (p.His1464Tyr)	RAPGEF2 (H1303Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151549	NM_001394067.2(RAPGEF2):c.4391A>G (p.His1464Arg)	RAPGEF2 (H1303R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409211	NM_001394067.2(RAPGEF2):c.4451G>A (p.Arg1484Gln)	RAPGEF2 (R1323Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321881	NM_001394067.2(RAPGEF2):c.4524G>T (p.Arg1508Ser)	RAPGEF2 (R1372S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655164	NM_001394067.2(RAPGEF2):c.4569G>A (p.Thr1523=)	RAPGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2464573	NM_001394067.2(RAPGEF2):c.4645C>G (p.Leu1549Val)	RAPGEF2 (L1388V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205147	NM_001394067.2(RAPGEF2):c.4652C>T (p.Ala1551Val)	RAPGEF2 (A1390V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655165	NM_001394067.2(RAPGEF2):c.4655G>A (p.Arg1552Gln)	RAPGEF2 (R1391Q +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 777167	NM_001394067.2(RAPGEF2):c.4692T>C (p.Pro1564=)	RAPGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 783430	NM_001394067.2(RAPGEF2):c.4758G>A (p.Pro1586=)	RAPGEF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2398292	NM_001394067.2(RAPGEF2):c.4798G>A (p.Ala1600Thr)	RAPGEF2 (A1480T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1327941	NM_001394067.2(RAPGEF2):c.4923C>T (p.Pro1641=)	RAPGEF2	Single nucleotide variant (synonymous variant)	Epilepsy, familial adult myoclonic, 7	GBenign
Select item 2323270	NM_001394067.2(RAPGEF2):c.4945A>G (p.Thr1649Ala)	RAPGEF2 (T1649A +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 982725	NM_001394067.2(RAPGEF2):c.4958-8A>G	RAPGEF2	Single nucleotide variant (intron variant)	Epilepsy, familial adult myoclonic, 7	GUncertain significance
Select item 3064560	NM_001394067.2(RAPGEF2):c.4975G>A (p.Ala1659Thr)	RAPGEF2 (A1498T +5 more)	Single nucleotide variant (missense variant)	Epilepsy, familial adult myoclonic, 7	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAM149A, FAM218A +197 more	Copy number gain	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	PLK4, TRPC3 +153 more	Copy number gain	not provided	GPathogenic
Select item 1711100	GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1	AADAT, ACSL1 +93 more	Copy number loss	See cases	GPathogenic
Select item 1527133	GRCh37/hg19 4q32.1-35.2(chr4:159755174-190225765)	AADAT, ACSL1 +86 more	Copy number gain	not specified	GPathogenic
Select item 1180544	GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3	ETFDH, FAM218A +108 more	Copy number gain	not provided	GPathogenic
Select item 1047894	GRCh37/hg19 4q32.1-34.1(chr4:157771352-172496278)	AADAT, ANP32C +39 more	Copy number loss	Autism with high cognitive abilities	GPathogenic
Select item 980704	GRCh37/hg19 4q32.1(chr4:159912424-160543437)x3	C4orf45, RAPGEF2	Copy number gain	not provided	GUncertain significance
Select item 980703	GRCh37/hg19 4q32.1(chr4:160267251-160472913)x3	RAPGEF2	Copy number gain	not provided	GUncertain significance
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 688856	GRCh37/hg19 4q32.1(chr4:160239570-161231483)x3	RAPGEF2	Copy number gain	not provided	GUncertain significance
Select item 688407	GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3	AADAT, ACSL1 +131 more	Copy number gain	not provided	GPathogenic
Select item 687836	GRCh37/hg19 4q32.1-32.2(chr4:159640893-161810965)x3	C4orf45, FNIP2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 687191	GRCh37/hg19 4q32.1(chr4:160254540-160373894)x3	RAPGEF2	Copy number gain	not provided	GUncertain significance

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