ClinVar for MedGen (Select 767161) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338639	NM_001271938.2(MEGF8):c.828G>A (p.Pro276=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 3067111	NM_001271938.2(MEGF8):c.7992_7995del (p.Leu2665fs)	MEGF8 (L2598fs +1 more)	Deletion (frameshift variant)	MEGF8-related Carpenter syndrome	GPathogenic
Select item 3067110	NM_001271938.2(MEGF8):c.7948GTCTTCTTCTCC[1] (p.2650VFFS[1])	MEGF8	Microsatellite (inframe_deletion)	MEGF8-related Carpenter syndrome	GLikely pathogenic
Select item 3067109	NM_001271938.2(MEGF8):c.7961TCT[2] (p.Phe2656del)	MEGF8 (F2589del +1 more)	Microsatellite (inframe_deletion)	MEGF8-related Carpenter syndrome	GLikely pathogenic
Select item 3023940	NM_001271938.2(MEGF8):c.4668C>T (p.Ala1556=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 3014657	NM_001271938.2(MEGF8):c.2751G>A (p.Glu917=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 3011567	NM_001271938.2(MEGF8):c.5577C>T (p.Phe1859=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 3010193	NM_001271938.2(MEGF8):c.5275A>G (p.Met1759Val)	MEGF8 (M1692V +1 more)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 3008360	NM_001271938.2(MEGF8):c.5597G>T (p.Arg1866Leu)	MEGF8 (R1799L +1 more)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 3008355	NM_001271938.2(MEGF8):c.1225C>T (p.His409Tyr)	MEGF8 (H409Y)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 2988042	NM_001271938.2(MEGF8):c.2971C>T (p.Arg991Ter)	MEGF8 (R924* +1 more)	Single nucleotide variant (nonsense)	MEGF8-related Carpenter syndrome	GPathogenic
Select item 2980108	NM_001271938.2(MEGF8):c.4407C>T (p.Cys1469=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2969482	NM_001271938.2(MEGF8):c.5686C>T (p.His1896Tyr)	MEGF8 (H1829Y +1 more)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GBenign
Select item 2965835	NM_001271938.2(MEGF8):c.1245-11T>G	MEGF8	Single nucleotide variant (intron variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2965549	NM_001271938.2(MEGF8):c.4989C>A (p.Ala1663=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2964158	NM_001271938.2(MEGF8):c.3228T>C (p.Asp1076=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2957510	NM_001271938.2(MEGF8):c.735C>T (p.Phe245=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2919150	NM_001271938.2(MEGF8):c.7116C>G (p.Leu2372=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2918377	NM_001271938.2(MEGF8):c.1028A>G (p.Asp343Gly)	MEGF8 (D343G)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 2916078	NM_001271938.2(MEGF8):c.7590A>G (p.Pro2530=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2906469	NM_001271938.2(MEGF8):c.6105G>A (p.Thr2035=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2903810	NM_001271938.2(MEGF8):c.4275C>T (p.Asp1425=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2901041	NM_001271938.2(MEGF8):c.5049C>T (p.Thr1683=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2897601	NM_001271938.2(MEGF8):c.428C>A (p.Pro143Gln)	MEGF8 (P143Q)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2894843	NM_001271938.2(MEGF8):c.8103C>T (p.Thr2701=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2892138	NM_001271938.2(MEGF8):c.5427C>T (p.Phe1809=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2889532	NM_001271938.2(MEGF8):c.7854C>T (p.Gly2618=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2889454	NM_001271938.2(MEGF8):c.8532C>T (p.Ser2844=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2888704	NM_001271938.2(MEGF8):c.1669-8C>T	MEGF8	Single nucleotide variant (intron variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2886909	NM_001271938.2(MEGF8):c.682C>T (p.Arg228Cys)	MEGF8 (R228C)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 2884124	NM_001271938.2(MEGF8):c.739+11G>C	MEGF8	Single nucleotide variant (intron variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2882272	NM_001271938.2(MEGF8):c.7270-5C>T	MEGF8	Single nucleotide variant (intron variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2872418	NM_001271938.2(MEGF8):c.4212T>G (p.Ser1404=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2854094	NM_001271938.2(MEGF8):c.7743G>A (p.Thr2581=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2849005	NM_001271938.2(MEGF8):c.3351-11C>T	MEGF8	Single nucleotide variant (intron variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2808447	NM_001271938.2(MEGF8):c.4393-19G>C	MEGF8	Single nucleotide variant (intron variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2804498	NM_001271938.2(MEGF8):c.3350+12G>A	MEGF8	Single nucleotide variant (intron variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2801875	NM_001271938.2(MEGF8):c.8050C>T (p.Arg2684Trp)	MEGF8 (R2684W +1 more)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 2795623	NM_001271938.2(MEGF8):c.5102C>T (p.Pro1701Leu)	MEGF8 (P1634L +1 more)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 2786492	NM_001271938.2(MEGF8):c.5231G>A (p.Gly1744Glu)	MEGF8 (G1677E +1 more)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 2775841	NM_001271938.2(MEGF8):c.4623-5C>A	MEGF8	Single nucleotide variant (intron variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2767675	NM_001271938.2(MEGF8):c.8109C>T (p.Cys2703=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2756712	NM_001271938.2(MEGF8):c.4831-11C>T	MEGF8	Single nucleotide variant (intron variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2754694	NM_001271938.2(MEGF8):c.4504-11C>T	MEGF8	Single nucleotide variant (intron variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2745966	NM_001271938.2(MEGF8):c.6087G>A (p.Gln2029=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2745881	NM_001271938.2(MEGF8):c.937C>T (p.Leu313=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2745428	NM_001271938.2(MEGF8):c.699C>T (p.Gly233=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2742009	NM_001271938.2(MEGF8):c.351+18C>T	MEGF8	Single nucleotide variant (intron variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2740106	NM_001271938.2(MEGF8):c.4764C>T (p.Thr1588=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2736541	NM_001271938.2(MEGF8):c.7260C>G (p.Tyr2420Ter)	MEGF8 (Y2420* +1 more)	Single nucleotide variant (nonsense)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 2732408	NM_001271938.2(MEGF8):c.5344-14del	MEGF8	Deletion (intron variant)	MEGF8-related Carpenter syndrome	GBenign
Select item 2732379	NM_001271938.2(MEGF8):c.6641+14C>T	MEGF8	Single nucleotide variant (intron variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 2731871	NM_001271938.2(MEGF8):c.7560C>T (p.Gly2520=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2730855	NM_001271938.2(MEGF8):c.3791G>A (p.Gly1264Glu)	MEGF8 (G1264E +1 more)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 2729431	NM_001271938.2(MEGF8):c.6888C>T (p.Gly2296=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GBenign
Select item 2728630	NM_001271938.2(MEGF8):c.771C>T (p.Leu257=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2726282	NM_001271938.2(MEGF8):c.6301C>T (p.Arg2101Ter)	MEGF8 (R2034* +1 more)	Single nucleotide variant (nonsense)	MEGF8-related Carpenter syndrome	GPathogenic
Select item 2725796	NM_001271938.2(MEGF8):c.261C>T (p.Phe87=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2724485	NM_001271938.2(MEGF8):c.7758G>A (p.Val2586=)	MEGF8	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2724027	NM_001271938.2(MEGF8):c.5478C>T (p.Pro1826=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2723725	NM_001271938.2(MEGF8):c.4415C>T (p.Ala1472Val)	MEGF8 (A1405V +1 more)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 2721740	NM_001271938.2(MEGF8):c.7492G>A (p.Gly2498Arg)	MEGF8 (G2431R +1 more)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 2720030	NM_001271938.2(MEGF8):c.4251C>T (p.Val1417=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2719340	NM_001271938.2(MEGF8):c.4365C>T (p.Ala1455=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2717006	NM_001271938.2(MEGF8):c.7296C>T (p.His2432=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2708093	NM_001271938.2(MEGF8):c.4144+4C>T	MEGF8	Single nucleotide variant (intron variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 2708092	NM_001271938.2(MEGF8):c.752A>G (p.Asn251Ser)	MEGF8 (N251S)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 2702995	NM_001271938.2(MEGF8):c.559-5C>T	MEGF8	Single nucleotide variant (intron variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2702994	NM_001271938.2(MEGF8):c.6081C>T (p.Ser2027=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2701966	NM_001271938.2(MEGF8):c.5555G>A (p.Arg1852His)	MEGF8 (R1785H +1 more)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2694150	NM_001271938.2(MEGF8):c.6432G>C (p.Gln2144His)	MEGF8 (Q2144H +1 more)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 2664178	NM_001271938.2(MEGF8):c.5959T>C (p.Trp1987Arg)	MEGF8 (W1920R +1 more)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 2664177	NM_001271938.2(MEGF8):c.3842G>A (p.Arg1281Gln)	MEGF8 (R1214Q +1 more)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 2636125	NM_001271938.2(MEGF8):c.4196A>G (p.Asn1399Ser)	MEGF8 (N1332S +1 more)	Single nucleotide variant (missense variant)	MEGF8-related disorder +2 more	GUncertain significance
Select item 2499547	NM_001271938.2(MEGF8):c.3481C>T (p.Arg1161Trp)	MEGF8 (R1094W +1 more)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 2433737	NM_001271938.2(MEGF8):c.3964C>T (p.Pro1322Ser)	MEGF8 (P1255S +1 more)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 2433736	NM_001271938.2(MEGF8):c.5170G>A (p.Ala1724Thr)	MEGF8 (A1657T +1 more)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 2433735	NM_001271938.2(MEGF8):c.320G>A (p.Arg107Gln)	MEGF8 (R107Q)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome +1 more	GUncertain significance
Select item 2433734	NM_001271938.2(MEGF8):c.3599G>A (p.Gly1200Asp)	MEGF8 (G1133D +1 more)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 2427936	NM_001271938.2(MEGF8):c.328C>A (p.Pro110Thr)	MEGF8 (P110T)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	TWIST1-related craniosynostosis +3 more	GUncertain significance
Select item 2414691	NM_001271938.2(MEGF8):c.3578G>A (p.Arg1193Gln)	MEGF8 (R1126Q +1 more)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 2308105	NM_001271938.2(MEGF8):c.7541G>A (p.Arg2514His)	MEGF8 (R2514H +1 more)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome +1 more	GUncertain significance
Select item 2202687	NM_001271938.2(MEGF8):c.1282G>A (p.Val428Met)	MEGF8 (V428M)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 2199562	NM_001271938.2(MEGF8):c.3426A>G (p.Thr1142=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2199299	NM_001271938.2(MEGF8):c.519G>A (p.Glu173=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2198622	NM_001271938.2(MEGF8):c.3281C>T (p.Thr1094Met)	MEGF8 (T1027M +1 more)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 2198607	NM_001271938.2(MEGF8):c.8221G>A (p.Gly2741Ser)	MEGF8 (G2741S +1 more)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 2197951	NM_001271938.2(MEGF8):c.3887G>A (p.Gly1296Glu)	MEGF8 (G1229E +1 more)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome +1 more	GUncertain significance
Select item 2195765	NM_001271938.2(MEGF8):c.6474C>T (p.Pro2158=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2190967	NM_001271938.2(MEGF8):c.1085G>T (p.Gly362Val)	MEGF8 (G362V)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome +1 more	GUncertain significance
Select item 2190640	NM_001271938.2(MEGF8):c.7475C>T (p.Thr2492Met)	MEGF8 (T2425M +1 more)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome +1 more	GUncertain significance
Select item 2188884	NM_001271938.2(MEGF8):c.6274-7C>G	MEGF8	Single nucleotide variant (intron variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2188070	NM_001271938.2(MEGF8):c.7C>T (p.Leu3=)	LOC130064579, MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2181793	NM_001271938.2(MEGF8):c.5198G>A (p.Arg1733His)	MEGF8 (R1733H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2180523	NM_001271938.2(MEGF8):c.6163C>T (p.Leu2055=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2179134	NM_001271938.2(MEGF8):c.1143G>A (p.Pro381=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GBenign
Select item 2178578	NM_001271938.2(MEGF8):c.1557G>A (p.Ala519=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2178434	NM_001271938.2(MEGF8):c.4529G>T (p.Arg1510Leu)	MEGF8 (R1443L +1 more)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 2177608	NM_001271938.2(MEGF8):c.2737-20T>A	MEGF8, MIR8077	Single nucleotide variant (non-coding transcript variant +1 more)	MEGF8-related Carpenter syndrome	GLikely benign

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