"Invitae"[submitter] AND "MAGEL2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2805099	NM_019066.5(MAGEL2):c.3748T>A (p.Ter1250Lys)	MAGEL2	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 235292	NM_019066.5(MAGEL2):c.3746G>A (p.Arg1249His)	MAGEL2 (R1249H)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2959687	NM_019066.5(MAGEL2):c.3745C>G (p.Arg1249Gly)	MAGEL2 (R1249G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2644975	NM_019066.5(MAGEL2):c.3745C>T (p.Arg1249Cys)	MAGEL2 (R1249C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2805279	NM_019066.5(MAGEL2):c.3728C>T (p.Thr1243Ile)	MAGEL2 (T1243I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2023408	NM_019066.5(MAGEL2):c.3723C>A (p.Gly1241=)	MAGEL2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 735029	NM_019066.5(MAGEL2):c.3721G>A (p.Gly1241Ser)	MAGEL2 (G1241S)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1944396	NM_019066.5(MAGEL2):c.3717C>A (p.Ala1239=)	MAGEL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2062231	NM_019066.5(MAGEL2):c.3706G>A (p.Gly1236Ser)	MAGEL2 (G1236S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 739279	NM_019066.5(MAGEL2):c.3705C>G (p.Thr1235=)	MAGEL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 287995	NM_019066.5(MAGEL2):c.3690G>C (p.Glu1230Asp)	MAGEL2 (E1230D)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1369366	NM_019066.5(MAGEL2):c.3683C>T (p.Thr1228Ile)	MAGEL2 (T1228I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2779596	NM_019066.5(MAGEL2):c.3670G>A (p.Glu1224Lys)	MAGEL2 (E1224K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 697993	NM_019066.5(MAGEL2):c.3657G>A (p.Ala1219=)	MAGEL2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2644977	NM_019066.5(MAGEL2):c.3656C>T (p.Ala1219Val)	MAGEL2 (A1219V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2433604	NM_019066.5(MAGEL2):c.3633C>A (p.Ser1211Arg)	MAGEL2 (S1211R)	Single nucleotide variant (missense variant)	MAGEL2-related condition +2 more	GUncertain significance
Select item 2800365	NM_019066.5(MAGEL2):c.3619A>G (p.Lys1207Glu)	MAGEL2 (K1207E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2188053	NM_019066.5(MAGEL2):c.3612C>G (p.Leu1204=)	MAGEL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1339697	NM_019066.5(MAGEL2):c.3544T>A (p.Phe1182Ile)	MAGEL2 (F1182I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2970285	NM_019066.5(MAGEL2):c.3542A>G (p.Glu1181Gly)	MAGEL2 (E1181G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1986617	NM_019066.5(MAGEL2):c.3532G>A (p.Ala1178Thr)	MAGEL2 (A1178T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 749165	NM_019066.5(MAGEL2):c.3522C>T (p.Tyr1174=)	MAGEL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011553	NM_019066.5(MAGEL2):c.3511C>T (p.Arg1171Ter)	MAGEL2 (R1171*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2821183	NM_019066.5(MAGEL2):c.3509G>A (p.Arg1170Lys)	MAGEL2 (R1170K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2905434	NM_019066.5(MAGEL2):c.3503A>C (p.Glu1168Ala)	MAGEL2 (E1168A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2733203	NM_019066.5(MAGEL2):c.3502G>A (p.Glu1168Lys)	MAGEL2 (E1168K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 727619	NM_019066.5(MAGEL2):c.3483T>C (p.Phe1161=)	MAGEL2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2040681	NM_019066.5(MAGEL2):c.3475G>A (p.Glu1159Lys)	MAGEL2 (E1159K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 740556	NM_019066.5(MAGEL2):c.3474C>T (p.Thr1158=)	MAGEL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1993631	NM_019066.5(MAGEL2):c.3465G>A (p.Lys1155=)	MAGEL2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1696363	NM_019066.5(MAGEL2):c.3449_3450del (p.Phe1150fs)	MAGEL2 (F1150fs)	Deletion (frameshift variant)	Schaaf-Yang syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1918099	NM_019066.5(MAGEL2):c.3442G>A (p.Gly1148Ser)	MAGEL2 (G1148S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998737	NM_019066.5(MAGEL2):c.3430C>T (p.Arg1144Trp)	MAGEL2 (R1144W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2039409	NM_019066.5(MAGEL2):c.3420G>A (p.Gly1140=)	MAGEL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644978	NM_019066.5(MAGEL2):c.3406C>A (p.Leu1136Met)	MAGEL2 (L1136M)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3001274	NM_019066.5(MAGEL2):c.3393G>A (p.Leu1131=)	MAGEL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2082600	NM_019066.5(MAGEL2):c.3391C>A (p.Leu1131Met)	MAGEL2 (L1131M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1694731	NM_019066.5(MAGEL2):c.3388G>A (p.Asp1130Asn)	MAGEL2 (D1130N)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2703590	NM_019066.5(MAGEL2):c.3387G>A (p.Glu1129=)	MAGEL2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1696552	NM_019066.5(MAGEL2):c.3384G>C (p.Arg1128Ser)	MAGEL2 (R1128S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2021842	NM_019066.5(MAGEL2):c.3360C>T (p.Ile1120=)	MAGEL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888927	NM_019066.5(MAGEL2):c.3308C>T (p.Ser1103Phe)	MAGEL2 (S1103F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 435797	NM_019066.5(MAGEL2):c.3273C>T (p.Asn1091=)	MAGEL2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 287838	NM_019066.5(MAGEL2):c.3261T>C (p.Tyr1087=)	MAGEL2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2062869	NM_019066.5(MAGEL2):c.3257C>A (p.Ala1086Asp)	MAGEL2 (A1086D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1335164	NM_019066.5(MAGEL2):c.3255C>T (p.His1085=)	MAGEL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883459	NM_019066.5(MAGEL2):c.3252C>T (p.Asn1084=)	MAGEL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790541	NM_019066.5(MAGEL2):c.3246C>T (p.Thr1082=)	MAGEL2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2991439	NM_019066.5(MAGEL2):c.3239T>C (p.Ile1080Thr)	MAGEL2 (I1080T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 158813	NM_019066.5(MAGEL2):c.3229T>C (p.Leu1077=)	MAGEL2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2889528	NM_019066.5(MAGEL2):c.3228A>G (p.Gln1076=)	MAGEL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1804206	NM_019066.5(MAGEL2):c.3191G>A (p.Arg1064His)	MAGEL2 (R1064H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1314612	NM_019066.5(MAGEL2):c.3190C>T (p.Arg1064Cys)	MAGEL2 (R1064C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2903887	NM_019066.5(MAGEL2):c.3189C>T (p.Asn1063=)	MAGEL2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 158812	NM_019066.5(MAGEL2):c.3151C>A (p.Leu1051Ile)	MAGEL2 (L1051I)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 729331	NM_019066.5(MAGEL2):c.3140T>C (p.Val1047Ala)	MAGEL2 (V1047A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1948052	NM_019066.5(MAGEL2):c.3138G>A (p.Met1046Ile)	MAGEL2 (M1046I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2187258	NM_019066.5(MAGEL2):c.3132G>A (p.Ser1044=)	MAGEL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2046557	NM_019066.5(MAGEL2):c.3129C>A (p.Arg1043=)	MAGEL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2188865	NM_019066.5(MAGEL2):c.3128G>A (p.Arg1043His)	MAGEL2 (R1043H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2714841	NM_019066.5(MAGEL2):c.3127C>T (p.Arg1043Cys)	MAGEL2 (R1043C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2781183	NM_019066.5(MAGEL2):c.3117G>T (p.Val1039=)	MAGEL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1310639	NM_019066.5(MAGEL2):c.3115G>A (p.Val1039Met)	MAGEL2 (V1039M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2749783	NM_019066.5(MAGEL2):c.3114G>A (p.Lys1038=)	MAGEL2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1904866	NM_019066.5(MAGEL2):c.3098T>C (p.Val1033Ala)	MAGEL2 (V1033A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2007014	NM_019066.5(MAGEL2):c.3088T>A (p.Phe1030Ile)	MAGEL2 (F1030I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1921959	NM_019066.5(MAGEL2):c.3088T>C (p.Phe1030Leu)	MAGEL2 (F1030L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1630616	NM_019066.5(MAGEL2):c.3078G>A (p.Ala1026=)	MAGEL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004823	NM_019066.5(MAGEL2):c.3066G>A (p.Glu1022=)	MAGEL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1923935	NM_019066.5(MAGEL2):c.3046C>T (p.Pro1016Ser)	MAGEL2 (P1016S)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1076479	NM_019066.5(MAGEL2):c.3044dup (p.Pro1016fs)	MAGEL2 (P1016fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3021057	NM_019066.5(MAGEL2):c.3029C>T (p.Ser1010Phe)	MAGEL2 (S1010F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1937807	NM_019066.5(MAGEL2):c.3027T>C (p.Asn1009=)	MAGEL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 193399	NM_019066.5(MAGEL2):c.3017C>G (p.Thr1006Ser)	MAGEL2 (T1006S)	Single nucleotide variant (missense variant)	Prader-Willi syndrome +3 more	GBenign/Likely benign
Select item 2115506	NM_019066.5(MAGEL2):c.3013G>A (p.Ala1005Thr)	MAGEL2 (A1005T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1284829	NM_019066.5(MAGEL2):c.3012T>C (p.Ser1004=)	MAGEL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1806632	NM_019066.5(MAGEL2):c.3008C>A (p.Ser1003Tyr)	MAGEL2 (S1003Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2804898	NM_019066.5(MAGEL2):c.3003G>A (p.Pro1001=)	MAGEL2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2421369	NM_019066.5(MAGEL2):c.3003G>C (p.Pro1001=)	MAGEL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2829230	NM_019066.5(MAGEL2):c.2992A>G (p.Ser998Gly)	MAGEL2 (S998G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2855757	NM_019066.5(MAGEL2):c.2979G>A (p.Val993=)	MAGEL2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 758959	NM_019066.5(MAGEL2):c.2979G>C (p.Val993=)	MAGEL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 704780	NM_019066.5(MAGEL2):c.2971G>A (p.Val991Ile)	MAGEL2 (V991I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2993756	NM_019066.5(MAGEL2):c.2968C>T (p.Pro990Ser)	MAGEL2 (P990S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2534901	NM_019066.5(MAGEL2):c.2963C>G (p.Ser988Cys)	MAGEL2 (S988C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2786992	NM_019066.5(MAGEL2):c.2941C>T (p.Leu981Phe)	MAGEL2 (L981F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2776682	NM_019066.5(MAGEL2):c.2939G>T (p.Gly980Val)	MAGEL2 (G980V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963476	NM_019066.5(MAGEL2):c.2930G>A (p.Arg977Lys)	MAGEL2 (R977K)	Single nucleotide variant (missense variant)	MAGEL2-related condition +1 more	GUncertain significance
Select item 193416	NM_019066.5(MAGEL2):c.2919G>A (p.Pro973=)	MAGEL2	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2415075	NM_019066.5(MAGEL2):c.2918C>T (p.Pro973Leu)	MAGEL2 (P973L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2910746	NM_019066.5(MAGEL2):c.2901G>C (p.Leu967=)	MAGEL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2016145	NM_019066.5(MAGEL2):c.2901G>A (p.Leu967=)	MAGEL2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2540793	NM_019066.5(MAGEL2):c.2887G>A (p.Ala963Thr)	MAGEL2 (A963T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 211416	NM_019066.5(MAGEL2):c.2886C>T (p.Ser962=)	MAGEL2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1944707	NM_019066.5(MAGEL2):c.2884A>G (p.Ser962Gly)	MAGEL2 (S962G)	Single nucleotide variant (missense variant)	MAGEL2-related condition +1 more	GUncertain significance
Select item 1951565	NM_019066.5(MAGEL2):c.2876A>T (p.Glu959Val)	MAGEL2 (E959V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 734271	NM_019066.5(MAGEL2):c.2829G>A (p.Leu943=)	MAGEL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1914398	NM_019066.5(MAGEL2):c.2826C>T (p.Gly942=)	MAGEL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2175813	NM_019066.5(MAGEL2):c.2821C>T (p.Arg941Cys)	MAGEL2 (R941C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2916736	NM_019066.5(MAGEL2):c.2819C>G (p.Pro940Arg)	MAGEL2 (P940R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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