MEGF6[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 58242	GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	LOC121967050, LOC121967051 +520 more	Copy number loss	See cases	GPathogenic
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929262, LOC129929263 +458 more	Copy number loss	See cases	GPathogenic
Select item 151451	GRCh38/hg38 1p36.33-36.32(chr1:778698-4898439)x1	ACAP3, ACTRT2 +336 more	Copy number loss	See cases	GPathogenic
Select item 58036	GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3	LINC01786, LINC02593 +338 more	Copy number gain	See cases	GPathogenic
Select item 152849	GRCh38/hg38 1p36.33-36.32(chr1:821713-4225085)x1	LOC129929191, LOC129929192 +325 more	Copy number loss	See cases	GPathogenic
Select item 152807	GRCh38/hg38 1p36.33-36.32(chr1:821713-5099990)x1	ACAP3, ACTRT2 +337 more	Copy number loss	See cases	GPathogenic
Select item 152050	GRCh38/hg38 1p36.33-36.31(chr1:821713-5480263)x1	VWA1, WRAP73 +341 more	Copy number loss	See cases	GPathogenic
Select item 149968	GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1	CEP104, CFAP74 +449 more	Copy number loss	See cases	GPathogenic
Select item 149171	GRCh38/hg38 1p36.33-36.32(chr1:821713-3569891)x1	ACAP3, ACTRT2 +284 more	Copy number loss	See cases	GPathogenic
Select item 149107	GRCh38/hg38 1p36.33-36.32(chr1:821713-3928354)x3	LOC129929084, LOC129929085 +320 more	Copy number gain	See cases	GLikely pathogenic
Select item 148916	GRCh38/hg38 1p36.33-36.32(chr1:821713-5239643)x1	ACAP3, ACTRT2 +337 more	Copy number loss	See cases	GPathogenic
Select item 58245	GRCh38/hg38 1p36.33-36.32(chr1:821713-4155674)x1	ACAP3, ACTRT2 +325 more	Copy number loss	See cases	GPathogenic
Select item 58037	GRCh38/hg38 1p36.33-36.32(chr1:826553-4719105)x3	ACAP3, ACTRT2 +332 more	Copy number gain	See cases	GPathogenic
Select item 154642	GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1	PUSL1, RER1 +470 more	Copy number loss	See cases	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 147354	GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1	LOC129929192, LOC129929193 +490 more	Copy number loss	See cases	GPathogenic
Select item 144707	GRCh38/hg38 1p36.33-36.32(chr1:844347-4398122)x1	ACAP3, ACTRT2 +325 more	Copy number loss	See cases	GPathogenic
Select item 144461	GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1	ACAP3, ACOT7 +441 more	Copy number loss	See cases	GPathogenic
Select item 58289	GRCh38/hg38 1p36.33-36.32(chr1:844347-4665295)x1	ACAP3, ACTRT2 +329 more	Copy number loss	See cases	GPathogenic
Select item 57440	GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1	ACAP3, ACOT7 +401 more	Copy number loss	See cases	GPathogenic
Select item 57218	GRCh38/hg38 1p36.33-36.32(chr1:844347-3712147)x1	ACAP3, ACTRT2 +292 more	Copy number loss	See cases	GPathogenic
Select item 57049	GRCh38/hg38 1p36.33-36.31(chr1:844347-5682587)x1	LINC01786, LINC02593 +339 more	Copy number loss	See cases	GPathogenic
Select item 150566	GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1	LOC129929237, LOC129929238 +401 more	Copy number loss	See cases	GPathogenic
Select item 145360	GRCh38/hg38 1p36.33-36.31(chr1:844353-5827192)x3	ACAP3, ACTRT2 +341 more	Copy number gain	See cases	GPathogenic
Select item 58294	GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1	ACAP3, ACOT7 +519 more	Copy number loss	See cases	GPathogenic
Select item 58311	GRCh38/hg38 1p36.33-36.32(chr1:870177-4426613)x1	ACAP3, ACTRT2 +325 more	Copy number loss	See cases	GPathogenic
Select item 58314	GRCh38/hg38 1p36.33-36.32(chr1:872305-4133409)x1	ACAP3, ACTRT2 +320 more	Copy number loss	See cases	GPathogenic
Select item 147545	GRCh38/hg38 1p36.33-36.32(chr1:874379-4973261)x1	ACAP3, ACTRT2 +328 more	Copy number loss	See cases	GPathogenic
Select item 154584	GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1	LOC129929075, LOC129929076 +464 more	Copy number loss	See cases	GPathogenic
Select item 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +578 more	Copy number loss	See cases	GPathogenic
Select item 154548	GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	LRRC47, MEGF6 +564 more	Copy number loss	See cases	GPathogenic
Select item 144176	GRCh38/hg38 1p36.33-36.32(chr1:911300-3614487)x3	ACAP3, ACTRT2 +277 more	Copy number gain	See cases	GPathogenic
Select item 153663	GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	LOC129929302, LOC129929303 +577 more	Copy number loss	See cases	GPathogenic
Select item 153195	GRCh38/hg38 1p36.33-36.32(chr1:914086-3587042)x1	ACAP3, ACTRT2 +277 more	Copy number loss	See cases	GPathogenic
Select item 148305	GRCh38/hg38 1p36.33-36.32(chr1:1022094-4665295)x1	ACAP3, ACTRT2 +301 more	Copy number loss	See cases	GPathogenic
Select item 144807	GRCh38/hg38 1p36.33-36.32(chr1:1118636-4179080)x1	ACAP3, ACTRT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 58318	GRCh38/hg38 1p36.33-36.31(chr1:1181847-5507243)x1	ACAP3, ACTRT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 150863	GRCh38/hg38 1p36.33-36.32(chr1:1330915-3743546)x3	LOC129929178, LOC129929179 +195 more	Copy number gain	See cases	GUncertain significance
Select item 150036	GRCh38/hg38 1p36.33-36.32(chr1:1756301-3649513)x4	ACTRT2, ARHGEF16 +117 more	Copy number gain	See cases	GUncertain significance
Select item 2499639	GRCh38/hg38 1p36.32(chr1:2518272-4413203)	ACTRT2, ARHGEF16 +88 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 58321	GRCh38/hg38 1p36.32(chr1:2683403-4729121)x1	ACTRT2, AJAP1 +79 more	Copy number loss	See cases	GPathogenic
Select item 146248	GRCh38/hg38 1p36.32(chr1:2778184-3528282)x3	ACTRT2, ARHGEF16 +29 more	Copy number gain	See cases	GLikely benign
Select item 57390	GRCh38/hg38 1p36.32-36.23(chr1:2844760-8007940)x1	ACOT7, ACTRT2 +226 more	Copy number loss	See cases	GPathogenic
Select item 152936	GRCh38/hg38 1p36.32-36.23(chr1:2868477-7332569)x1	LOC112577578, LOC112577579 +199 more	Copy number loss	See cases	GPathogenic
Select item 148513	GRCh38/hg38 1p36.32-36.31(chr1:2906020-5336116)x1	ACTRT2, AJAP1 +83 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 147394	GRCh38/hg38 1p36.32(chr1:3319336-3614487)x1	ARHGEF16, LOC105378604 +11 more	Copy number loss	See cases	GUncertain significance
Select item 146047	GRCh38/hg38 1p36.32(chr1:3354056-3743487)x3	ARHGEF16, LOC108281140 +24 more	Copy number gain	See cases	GUncertain significance
Select item 59852	GRCh38/hg38 1p36.32-36.23(chr1:3472163-7842947)x1	ACOT7, AJAP1 +193 more	Copy number loss	See cases	GPathogenic
Select item 786447	NM_001409.4(MEGF6):c.4606G>A (p.Gly1536Ser)	MEGF6 (G1536S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2590045	NM_001409.4(MEGF6):c.4600C>T (p.Arg1534Trp)	MEGF6 (R1429W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294110	NM_001409.4(MEGF6):c.4583C>T (p.Ser1528Phe)	MEGF6 (S1423F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552737	NM_001409.4(MEGF6):c.4529G>A (p.Arg1510Gln)	MEGF6 (R1405Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2554086	NM_001409.4(MEGF6):c.4517G>T (p.Gly1506Val)	MEGF6 (G1401V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405289	NM_001409.4(MEGF6):c.4456G>A (p.Asp1486Asn)	MEGF6 (D1486N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294117	NM_001409.4(MEGF6):c.4373C>G (p.Ala1458Gly)	MEGF6 (A1353G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125168	NM_001409.4(MEGF6):c.4271G>C (p.Gly1424Ala)	MEGF6 (G1424A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371535	NM_001409.4(MEGF6):c.4240G>A (p.Gly1414Ser)	MEGF6 (G1414S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300264	NM_001409.4(MEGF6):c.4231G>A (p.Gly1411Ser)	MEGF6 (G1306S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510655	NM_001409.4(MEGF6):c.4214G>A (p.Arg1405Gln)	MEGF6 (R1405Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2343193	NM_001409.4(MEGF6):c.4079C>T (p.Thr1360Met)	MEGF6 (T1360M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294082	NM_001409.4(MEGF6):c.4027G>A (p.Ala1343Thr)	MEGF6 (A1238T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528849	NM_001409.4(MEGF6):c.4015C>T (p.Arg1339Cys)	MEGF6 (R1234C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214069	NM_001409.4(MEGF6):c.3980C>T (p.Thr1327Met)	MEGF6 (T1327M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3294114	NM_001409.4(MEGF6):c.3952G>A (p.Gly1318Ser)	MEGF6 (G1318S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595462	NM_001409.4(MEGF6):c.3904G>A (p.Glu1302Lys)	MEGF6 (E1197K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218910	NM_001409.4(MEGF6):c.3887G>A (p.Arg1296Gln)	MEGF6 (R1296Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 156727	CM000663.1:g.3411413_3431235dup	MEGF6, LOC108281140 +1 more	Duplication	Preeclampsia	Gnot provided
Select item 719697	NM_001409.4(MEGF6):c.3860G>A (p.Arg1287His)	MEGF6 (R1287H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3294111	NM_001409.4(MEGF6):c.3856G>A (p.Val1286Ile)	MEGF6 (V1181I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593624	NM_001409.4(MEGF6):c.3853G>A (p.Gly1285Ser)	MEGF6 (G1285S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791771	NM_001409.4(MEGF6):c.3804G>A (p.Ala1268=)	MEGF6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3125165	NM_001409.4(MEGF6):c.3797A>C (p.Gln1266Pro)	MEGF6 (Q1161P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638096	NM_001409.4(MEGF6):c.3762C>T (p.Phe1254=)	MEGF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2360582	NM_001409.4(MEGF6):c.3749C>T (p.Pro1250Leu)	MEGF6 (P1145L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519579	NM_001409.4(MEGF6):c.3704G>A (p.Arg1235His)	MEGF6 (R1130H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2591220	NM_001409.4(MEGF6):c.3703C>T (p.Arg1235Cys)	MEGF6 (R1130C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294122	NM_001409.4(MEGF6):c.3697G>A (p.Ala1233Thr)	MEGF6 (A1233T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298787	NM_001409.4(MEGF6):c.3689C>T (p.Ala1230Val)	MEGF6 (A1125V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125164	NM_001409.4(MEGF6):c.3680G>A (p.Cys1227Tyr)	MEGF6 (C1227Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271922	NM_001409.4(MEGF6):c.3653T>C (p.Leu1218Pro)	MEGF6 (L1113P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125163	NM_001409.4(MEGF6):c.3628C>T (p.Arg1210Trp)	MEGF6 (R1105W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356204	NM_001409.4(MEGF6):c.3625G>A (p.Gly1209Arg)	MEGF6 (G1104R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125162	NM_001409.4(MEGF6):c.3620C>T (p.Pro1207Leu)	MEGF6 (P1207L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544041	NM_001409.4(MEGF6):c.3521T>C (p.Met1174Thr)	MEGF6 (M1069T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2461698	NM_001409.4(MEGF6):c.3515C>T (p.Ala1172Val)	MEGF6 (A1172V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2614274	NM_001409.4(MEGF6):c.3514G>A (p.Ala1172Thr)	MEGF6 (A1172T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205859	NM_001409.4(MEGF6):c.3443G>T (p.Arg1148Leu)	MEGF6 (R1148L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395162	NM_001409.4(MEGF6):c.3412G>A (p.Ala1138Thr)	MEGF6 (A1138T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638097	NM_001409.4(MEGF6):c.3404C>T (p.Pro1135Leu)	MEGF6 (P1030L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3294112	NM_001409.4(MEGF6):c.3392G>A (p.Arg1131His)	MEGF6 (R1131H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370295	NM_001409.4(MEGF6):c.3365G>A (p.Gly1122Asp)	MEGF6 (G1017D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406830	NM_001409.4(MEGF6):c.3353C>T (p.Pro1118Leu)	MEGF6 (P1013L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125160	NM_001409.4(MEGF6):c.3344G>A (p.Cys1115Tyr)	MEGF6 (C1010Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370294	NM_001409.4(MEGF6):c.3296C>T (p.Pro1099Leu)	MEGF6 (P1099L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125159	NM_001409.4(MEGF6):c.3289T>A (p.Cys1097Ser)	MEGF6 (C1097S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557635	NM_001409.4(MEGF6):c.3280G>T (p.Gly1094Trp)	MEGF6 (G989W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294315	NM_001409.4(MEGF6):c.3278A>G (p.Asn1093Ser)	MEGF6 (N988S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384669	NM_001409.4(MEGF6):c.3257G>A (p.Arg1086Gln)	MEGF6 (R1086Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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