ClinVar for Gene (Select 1954) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3051330	NM_001271938.2(MEGF8):c.3094C>T (p.Leu1032=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related condition	GLikely benign
Select item 3046452	NM_001271938.2(MEGF8):c.1860C>T (p.Ser620=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related condition	GLikely benign
Select item 3046436	NM_001271938.2(MEGF8):c.1668C>T (p.Asp556=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related condition	GLikely benign
Select item 3046299	NM_001271938.2(MEGF8):c.1724C>T (p.Pro575Leu)	MEGF8 (P575L)	Single nucleotide variant (missense variant)	MEGF8-related condition	GUncertain significance
Select item 3043461	NM_001271938.2(MEGF8):c.2274C>T (p.Ala758=)	MEGF8	Single nucleotide variant (synonymous variant +1 more)	MEGF8-related condition	GLikely benign
Select item 3038726	NM_001271938.2(MEGF8):c.135G>A (p.Thr45=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related condition	GLikely benign
Select item 3037382	NM_001271938.2(MEGF8):c.1245-6C>T	MEGF8	Single nucleotide variant (intron variant)	MEGF8-related condition	GLikely benign
Select item 3037239	NM_001271938.2(MEGF8):c.270C>T (p.Asp90=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related condition	GLikely benign
Select item 3035576	NM_001271938.2(MEGF8):c.5337G>T (p.Leu1779=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related condition	GLikely benign
Select item 3035206	NM_001271938.2(MEGF8):c.306A>G (p.Leu102=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related condition	GLikely benign
Select item 3031650	NM_001271938.2(MEGF8):c.2353C>T (p.Arg785Cys)	MEGF8 (R718C +1 more)	Single nucleotide variant (missense variant)	MEGF8-related condition	GUncertain significance
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)	MEGF8-related Carpenter syndrome +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	GLikely benign
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 2663240	NM_001271938.2(MEGF8):c.3931G>A (p.Glu1311Lys)	MEGF8 (E1244K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662399	NM_001271938.2(MEGF8):c.1312G>T (p.Gly438Trp)	MEGF8 (G438W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650041	NM_001271938.2(MEGF8):c.8409C>T (p.Leu2803=)	MEGF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650040	NM_001271938.2(MEGF8):c.8151G>A (p.Pro2717=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related condition +1 more	GLikely benign
Select item 2650039	NM_001271938.2(MEGF8):c.7786C>T (p.Leu2596=)	MEGF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650038	NM_001271938.2(MEGF8):c.7785G>A (p.Arg2595=)	MEGF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650037	NM_001271938.2(MEGF8):c.7761G>C (p.Leu2587=)	MEGF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650036	NM_001271938.2(MEGF8):c.7401C>T (p.Arg2467=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related condition +1 more	GLikely benign
Select item 2650035	NM_001271938.2(MEGF8):c.6219T>C (p.Ser2073=)	MEGF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650034	NM_001271938.2(MEGF8):c.5722C>T (p.Leu1908=)	MEGF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650033	NM_001271938.2(MEGF8):c.4290G>A (p.Ala1430=)	MEGF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650032	NM_001271938.2(MEGF8):c.3108A>G (p.Leu1036=)	MEGF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650031	NM_001271938.2(MEGF8):c.3018C>T (p.Cys1006=)	MEGF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650030	NM_001271938.2(MEGF8):c.2572T>C (p.Leu858=)	MEGF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650029	NM_001271938.2(MEGF8):c.2547C>G (p.Thr849=)	MEGF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650028	NM_001271938.2(MEGF8):c.2535G>A (p.Ser845=)	MEGF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650027	NM_001271938.2(MEGF8):c.2269A>G (p.Met757Val)	MEGF8 (M757V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2650026	NM_001271938.2(MEGF8):c.1548T>C (p.His516=)	MEGF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636125	NM_001271938.2(MEGF8):c.4196A>G (p.Asn1399Ser)	MEGF8 (N1332S +1 more)	Single nucleotide variant (missense variant)	MEGF8-related condition +1 more	GUncertain significance
Select item 2635648	NM_001271938.2(MEGF8):c.1717C>T (p.Arg573Trp)	MEGF8 (R573W)	Single nucleotide variant (missense variant)	MEGF8-related condition	GUncertain significance

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