ClinVar for Gene (Select 1953) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3125177	NM_001409.4(MEGF6):c.955G>A (p.Ala319Thr)	MEGF6 (A319T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125176	NM_001409.4(MEGF6):c.838G>A (p.Gly280Ser)	MEGF6 (G175S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125175	NM_001409.4(MEGF6):c.758G>A (p.Gly253Asp)	MEGF6 (G148D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125174	NM_001409.4(MEGF6):c.676C>T (p.Arg226Cys)	MEGF6 (R226C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125173	NM_001409.4(MEGF6):c.637T>C (p.Cys213Arg)	MEGF6 (C108R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125172	NM_001409.4(MEGF6):c.619G>A (p.Ala207Thr)	MEGF6 (A207T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3125171	NM_001409.4(MEGF6):c.529G>A (p.Val177Met)	MEGF6 (V177M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125169	NM_001409.4(MEGF6):c.463G>A (p.Gly155Arg)	MEGF6 (G155R)	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 3125167	NM_001409.4(MEGF6):c.406G>A (p.Gly136Ser)	MEGF6 (G136S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125166	NM_001409.4(MEGF6):c.388G>A (p.Ala130Thr)	MEGF6 (A130T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 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 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 3125161	NM_001409.4(MEGF6):c.352C>G (p.Pro118Ala)	MEGF6 (P118A)	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 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 3125158	NM_001409.4(MEGF6):c.3154G>A (p.Gly1052Arg)	MEGF6 (G947R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125156	NM_001409.4(MEGF6):c.3025G>A (p.Ala1009Thr)	MEGF6 (A1009T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125155	NM_001409.4(MEGF6):c.2899G>A (p.Ala967Thr)	MEGF6 (A862T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3125154	NM_001409.4(MEGF6):c.277T>C (p.Tyr93His)	MEGF6 (Y93H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125153	NM_001409.4(MEGF6):c.2713C>A (p.Pro905Thr)	MEGF6 (P800T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125152	NM_001409.4(MEGF6):c.2698T>G (p.Cys900Gly)	MEGF6 (C795G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125151	NM_001409.4(MEGF6):c.2264C>T (p.Thr755Met)	MEGF6 (T755M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125150	NM_001409.4(MEGF6):c.2249C>T (p.Pro750Leu)	MEGF6 (P645L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125148	NM_001409.4(MEGF6):c.1906T>C (p.Phe636Leu)	MEGF6 (F531L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125147	NM_001409.4(MEGF6):c.1769G>A (p.Ser590Asn)	MEGF6 (S485N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125146	NM_001409.4(MEGF6):c.172C>T (p.Arg58Cys)	MEGF6 (R58C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125145	NM_001409.4(MEGF6):c.1499G>C (p.Arg500Pro)	MEGF6 (R500P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125144	NM_001409.4(MEGF6):c.1440G>C (p.Glu480Asp)	MEGF6 (E480D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125142	NM_001409.4(MEGF6):c.1225G>A (p.Gly409Ser)	MEGF6 (G304S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3125141	NM_001409.4(MEGF6):c.1205G>A (p.Arg402Gln)	MEGF6 (R297Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125140	NM_001409.4(MEGF6):c.1186G>A (p.Gly396Ser)	MEGF6 (G396S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3063255	GRCh37/hg19 1p36.33-36.32(chr1:849466-4529103)x3	ACAP3, ACTRT2 +76 more	Copy number gain	not specified	GPathogenic
Select item 3063233	GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	RNF207, RNF223 +108 more	Copy number loss	not specified	GPathogenic
Select item 3063066	GRCh37/hg19 1p36.33-36.31(chr1:1959612-5471235)x1	ACTRT2, AJAP1 +27 more	Copy number loss	not specified	GPathogenic
Select item 2685792	GRCh37/hg19 1p36.33-36.32(chr1:1687675-3638712)x3	ACTRT2, ARHGEF16 +25 more	Copy number gain	not provided	GUncertain significance
Select item 2685789	GRCh37/hg19 1p36.33-36.32(chr1:1129319-3615916)x3	MIR551A, PANK4 +58 more	Copy number gain	not provided	GPathogenic
Select item 2685288	GRCh37/hg19 1p36.32(chr1:2694517-4317372)x1	ACTRT2, ARHGEF16 +13 more	Copy number loss	not provided	GUncertain significance
Select item 2685266	GRCh37/hg19 1p36.33-36.32(chr1:849467-3500877)x1	SCNN1D, SDF4 +67 more	Copy number loss	not provided	GPathogenic
Select item 2685244	GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	ACAP3, ACOT7 +116 more	Copy number loss	not provided	GPathogenic
Select item 2681396	NM_001409.4(MEGF6):c.1119C>T (p.Val373=)	LOC132088707, MEGF6	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2638102	NM_001409.4(MEGF6):c.539C>T (p.Pro180Leu)	MEGF6 (P180L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2638101	NM_001409.4(MEGF6):c.1983G>A (p.Thr661=)	MEGF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638100	NM_001409.4(MEGF6):c.2844G>A (p.Pro948=)	MEGF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638099	NM_001409.4(MEGF6):c.3117C>T (p.Gly1039=)	MEGF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638098	NM_001409.4(MEGF6):c.3186G>T (p.Ala1062=)	MEGF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2638096	NM_001409.4(MEGF6):c.3762C>T (p.Phe1254=)	MEGF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2613753	NM_001409.4(MEGF6):c.2456C>T (p.Ala819Val)	MEGF6 (A714V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609758	NM_001409.4(MEGF6):c.1306T>G (p.Cys436Gly)	MEGF6 (C436G +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 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 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 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 2574677	GRCh37/hg19 1p36.33-36.31(chr1:1957148-6553454)	AJAP1, ACOT7 +40 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2570762	GRCh37/hg19 1p36.33-36.31(chr1:536777-6012896)x1	ACAP3, ACTRT2 +79 more	Copy number loss	not provided	GPathogenic
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 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 2553779	NM_001409.4(MEGF6):c.2373C>G (p.His791Gln)	MEGF6 (H791Q +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 2548350	NM_001409.4(MEGF6):c.674A>G (p.His225Arg)	MEGF6 (H120R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545976	NM_001409.4(MEGF6):c.2387A>T (p.Asp796Val)	MEGF6 (D796V +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 2540313	NM_001409.4(MEGF6):c.958G>A (p.Asp320Asn)	MEGF6 (D215N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539222	NM_001409.4(MEGF6):c.2734G>A (p.Gly912Ser)	MEGF6 (G912S +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 2522154	NM_001409.4(MEGF6):c.124C>G (p.Pro42Ala)	MEGF6 (P42A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520350	NM_001409.4(MEGF6):c.1781G>C (p.Cys594Ser)	MEGF6 (C594S +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 2517258	NM_001409.4(MEGF6):c.1231G>A (p.Glu411Lys)	MEGF6 (E306K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516197	NM_001409.4(MEGF6):c.886T>A (p.Cys296Ser)	MEGF6 (C296S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515832	NM_001409.4(MEGF6):c.3115G>A (p.Gly1039Ser)	MEGF6 (G1039S +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 2499639	GRCh38/hg38 1p36.32(chr1:2518272-4413203)	LOC126805582, LOC126805583 +88 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2494670	NM_001409.4(MEGF6):c.1075C>T (p.Arg359Cys)	MEGF6 (R254C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492508	NM_001409.4(MEGF6):c.1000A>G (p.Ser334Gly)	MEGF6 (S229G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489996	NM_001409.4(MEGF6):c.2704C>G (p.Gln902Glu)	MEGF6 (Q797E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488964	NM_001409.4(MEGF6):c.497G>A (p.Arg166Gln)	MEGF6 (R166Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2488963	NM_001409.4(MEGF6):c.1744G>T (p.Ala582Ser)	MEGF6 (A477S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485861	NM_001409.4(MEGF6):c.1247G>A (p.Cys416Tyr)	MEGF6 (C311Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482380	NM_001409.4(MEGF6):c.2398G>A (p.Gly800Arg)	MEGF6 (G800R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472567	NM_001409.4(MEGF6):c.1342C>T (p.Arg448Cys)	MEGF6 (R343C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469647	NM_001409.4(MEGF6):c.568G>A (p.Gly190Ser)	MEGF6 (G190S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467819	NM_001409.4(MEGF6):c.1976C>T (p.Pro659Leu)	MEGF6 (P554L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462529	NM_001409.4(MEGF6):c.2041C>G (p.Arg681Gly)	MEGF6 (R576G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461863	NM_001409.4(MEGF6):c.242C>T (p.Ala81Val)	MEGF6 (A81V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461698	NM_001409.4(MEGF6):c.3515C>T (p.Ala1172Val)	MEGF6 (A1172V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459058	NM_001409.4(MEGF6):c.584C>G (p.Thr195Ser)	MEGF6 (T90S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412439	NM_001409.4(MEGF6):c.1076G>A (p.Arg359His)	MEGF6 (R359H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407506	NM_001409.4(MEGF6):c.2170G>C (p.Gly724Arg)	MEGF6 (G619R +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 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 2397143	NM_001409.4(MEGF6):c.740C>T (p.Pro247Leu)	MEGF6 (P142L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396149	NM_001409.4(MEGF6):c.1942C>T (p.Pro648Ser)	MEGF6 (P543S +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 2394149	NM_001409.4(MEGF6):c.2042G>A (p.Arg681His)	MEGF6 (R681H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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