"GeneDx"[submitter] AND "NF2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 683799	NM_000268.3(NF2):c.-752G>C	NF2	Single nucleotide variant	not provided	GBenign
Select item 1282056	NC_000022.11:g.29603361dup	NF2	Duplication	not provided	GBenign
Select item 1265938	NC_000022.11:g.29603361del	NF2	Deletion	not provided	GBenign
Select item 1212818	NC_000022.11:g.29603369G>C	NF2	Single nucleotide variant	not provided	GLikely benign
Select item 674066	NM_000268.3(NF2):c.-575A>C	LOC130067184, NF2	Single nucleotide variant	not provided	GLikely benign
Select item 341065	NM_000268.4(NF2):c.-204C>A	LOC130067184, NF2	Single nucleotide variant (5 prime UTR variant +1 more)	Neurofibromatosis, type 2 +1 more	GBenign
Select item 341066	NM_000268.4(NF2):c.-110G>C	LOC130067184, NF2	Single nucleotide variant (5 prime UTR variant +1 more)	Neurofibromatosis, type 2 +1 more	GBenign
Select item 262991	NM_000268.4(NF2):c.-18G>A	NF2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 956856	NM_000268.4(NF2):c.1A>G (p.Met1Val)	NF2 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 504454	NM_000268.4(NF2):c.2T>C (p.Met1Thr)	NF2 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 237616	NM_000268.4(NF2):c.12C>T (p.Ala4=)	NF2	Single nucleotide variant (synonymous variant +1 more)	Neurofibromatosis, type 2 +3 more	GBenign/Likely benign
Select item 818007	NM_000268.4(NF2):c.30del (p.Phe11fs)	NF2 (F11fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3343960	NM_000268.4(NF2):c.39_42del (p.Leu14fs)	NF2 (L14fs)	Microsatellite (frameshift variant +2 more)	not provided	GPathogenic
Select item 1157795	NM_000268.4(NF2):c.36C>T (p.Ser12=)	NF2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 870693	NM_000268.4(NF2):c.41_42del (p.Leu14fs)	NF2 (L14fs)	Microsatellite (frameshift variant +1 more)	Neurofibromatosis, type 2 +1 more	GPathogenic
Select item 422184	NM_000268.4(NF2):c.77T>C (p.Ile26Thr)	NF2 (I26T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 134892	NM_000268.4(NF2):c.107A>G (p.Asn36Ser)	NF2 (N36S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 943289	NM_000268.4(NF2):c.114+4A>G	NF2	Single nucleotide variant (intron variant)	Neurofibromatosis, type 2 +3 more	GUncertain significance
Select item 391964	NM_000268.4(NF2):c.114+20G>T	NF2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 1221963	NM_000268.4(NF2):c.114+335dup	NF2	Duplication (intron variant)	not provided	GBenign
Select item 668833	NM_000268.4(NF2):c.115-256A>C	NF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 449433	NM_000268.4(NF2):c.122G>A (p.Trp41Ter)	NF2 (W41*)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic
Select item 3285	NM_000268.4(NF2):c.169C>T (p.Arg57Ter)	NF2 (R57*)	Single nucleotide variant (nonsense +2 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 1002192	NM_000268.4(NF2):c.182T>C (p.Phe61Ser)	NF2 (F61S)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 527688	NM_000268.4(NF2):c.196T>A (p.Tyr66Asn)	NF2 (Y66N)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 451710	NM_000268.4(NF2):c.240G>A (p.Lys80=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 341067	NM_000268.4(NF2):c.240+15C>T	NF2	Single nucleotide variant (intron variant)	Neurofibromatosis, type 2 +2 more	GConflicting classifications of pathogenicity
Select item 1238631	NM_000268.4(NF2):c.240+171T>A	NF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676985	NM_000268.4(NF2):c.241-85G>T	NF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267904	NM_000268.4(NF2):c.241-58G>A	NF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 417153	NM_000268.4(NF2):c.246G>A (p.Leu82=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Neurofibromatosis, type 2 +2 more	GBenign/Likely benign
Select item 2663242	NM_000268.4(NF2):c.291G>C (p.Leu97Phe)	NF2 (L20F +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 457915	NM_000268.4(NF2):c.325C>T (p.Leu109=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Neurofibromatosis, type 2 +2 more	GConflicting classifications of pathogenicity
Select item 823788	NM_000268.4(NF2):c.342ACA[1] (p.Gln115del)	NF2 (Q73del +1 more)	Microsatellite (inframe_deletion +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2150849	NM_000268.4(NF2):c.359T>C (p.Leu120Ser)	NF2 (L82S +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 512284	NM_000268.4(NF2):c.363+19C>A	NF2	Single nucleotide variant (intron variant)	Neurofibromatosis, type 2 +1 more	GLikely benign
Select item 668837	NM_000268.4(NF2):c.364-291C>G	NF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216942	NM_000268.4(NF2):c.364-140dup	NF2	Duplication (intron variant)	not provided	GLikely benign
Select item 262993	NM_000268.4(NF2):c.364-39A>C	NF2	Single nucleotide variant (intron variant)	Neurofibromatosis, type 2 +2 more	GBenign
Select item 2662854	NM_000268.4(NF2):c.367A>T (p.Lys123Ter)	NF2 (K123* +5 more)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely pathogenic
Select item 1329492	NM_000268.4(NF2):c.447+2T>C	NF2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 262994	NM_000268.4(NF2):c.448-17C>T	NF2	Single nucleotide variant (intron variant)	Neurofibromatosis, type 2 +1 more	GBenign/Likely benign
Select item 1312631	NM_000268.4(NF2):c.464C>T (p.Pro155Leu)	NF2 (P113L +3 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2 +2 more	GUncertain significance
Select item 262995	NM_000268.4(NF2):c.465C>T (p.Pro155=)	NF2	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 1314081	NM_000268.4(NF2):c.482G>A (p.Gly161Glu)	NF2 (G119E +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 426373	NM_000268.4(NF2):c.484T>C (p.Phe162Leu)	NF2 (F162L +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 567169	NM_000268.4(NF2):c.497A>T (p.Glu166Val)	NF2 (E166V +3 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2 +2 more	GUncertain significance
Select item 1225893	NM_000268.4(NF2):c.516+259A>C	NF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212300	NM_000268.4(NF2):c.517-249G>C	NF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250048	NM_000268.4(NF2):c.517-150C>T	NF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254172	NM_000268.4(NF2):c.517-61G>C	NF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 423789	NM_000268.4(NF2):c.517-1G>A	NF2	Single nucleotide variant (splice acceptor variant +1 more)	Neurofibromatosis, type 2 +1 more	GPathogenic
Select item 2504955	NM_000268.4(NF2):c.518TAA[1] (p.Ile174del)	NF2 (I132del +5 more)	Microsatellite (inframe_indel +3 more)	not provided	GUncertain significance
Select item 457919	NM_000268.4(NF2):c.560G>A (p.Arg187Lys)	NF2 (R187K +3 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2 +2 more	GUncertain significance
Select item 2504229	NM_000268.4(NF2):c.574T>A (p.Tyr192Asn)	NF2 (Y109N +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 457921	NM_000268.4(NF2):c.586C>T (p.Arg196Ter)	NF2 (R196* +3 more)	Single nucleotide variant (nonsense +2 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 1750446	NM_000268.4(NF2):c.590G>T (p.Gly197Val)	NF2 (G156V +6 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2 +2 more	GUncertain significance
Select item 457922	NM_000268.4(NF2):c.592C>T (p.Arg198Ter)	NF2 (R198* +3 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic
Select item 457924	NM_000268.4(NF2):c.595G>A (p.Ala199Thr)	NF2 (A199T +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 1204448	NM_000268.4(NF2):c.599+56dup	NF2	Duplication (intron variant)	not provided	GLikely benign
Select item 1218747	NM_000268.4(NF2):c.599+56del	NF2	Deletion (intron variant)	not provided	GLikely benign
Select item 1211259	NM_000268.4(NF2):c.599+280dup	NF2	Duplication (intron variant)	not provided	GLikely benign
Select item 674067	NM_000268.4(NF2):c.599+289G>A	NF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292735	NM_000268.4(NF2):c.600-239C>A	NF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259279	NM_000268.4(NF2):c.600-215A>G	NF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179571	NM_000268.4(NF2):c.600-194A>G	NF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676986	NM_000268.4(NF2):c.600-154G>A	NF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219430	NM_000268.4(NF2):c.600-139G>C	NF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1039559	NM_000268.4(NF2):c.602A>G (p.Asp201Gly)	NF2 (D159G +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 237626	NM_000268.4(NF2):c.613A>G (p.Met205Val)	NF2 (M205V +3 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2 +3 more	GConflicting classifications of pathogenicity
Select item 3365039	NM_000268.4(NF2):c.650A>T (p.Tyr217Phe)	NF2 (Y134F +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1014785	NM_000268.4(NF2):c.652G>T (p.Gly218Cys)	NF2 (G135C +3 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2 +2 more	GUncertain significance
Select item 569350	NM_000268.4(NF2):c.652G>A (p.Gly218Ser)	NF2 (G218S +3 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2 +2 more	GConflicting classifications of pathogenicity
Select item 449829	NM_000268.4(NF2):c.655G>A (p.Val219Met)	NF2 (V219M +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 643102	NM_000268.4(NF2):c.658A>T (p.Asn220Tyr)	NF2 (N178Y +3 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2 +2 more	GPathogenic
Select item 2896145	NM_000268.4(NF2):c.668C>T (p.Ala223Val)	NF2 (A140V +6 more)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 2 +1 more	GUncertain significance
Select item 450205	NM_000268.4(NF2):c.675+1G>C	NF2	Single nucleotide variant (splice donor variant +1 more)	not provided	GPathogenic
Select item 679665	NM_000268.4(NF2):c.675+49T>C	NF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193394	NM_000268.4(NF2):c.676-334C>T	NF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676987	NM_000268.4(NF2):c.676-249G>A	NF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 527691	NM_000268.4(NF2):c.683A>G (p.Lys228Arg)	NF2 (K228R +3 more)	Single nucleotide variant (missense variant +2 more)	Familial meningioma +3 more	GUncertain significance
Select item 385259	NM_000268.4(NF2):c.705A>C (p.Gly235=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Neurofibromatosis, type 2 +2 more	GLikely benign
Select item 578288	NM_000268.4(NF2):c.713C>T (p.Ala238Val)	NF2 (A238V +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 509471	NM_000268.4(NF2):c.759G>A (p.Lys253=)	NF2	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GLikely benign
Select item 417147	NM_000268.4(NF2):c.783C>T (p.Ile261=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Neurofibromatosis, type 2 +2 more	GLikely benign
Select item 3290	NM_000268.4(NF2):c.784C>T (p.Arg262Ter)	NF2 (R262* +3 more)	Single nucleotide variant (nonsense +2 more)	Neurofibromatosis, type 2 +1 more	GPathogenic
Select item 390549	NM_000268.4(NF2):c.795G>T (p.Ser265=)	NF2	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GLikely benign
Select item 201123	NM_000268.4(NF2):c.810+1G>A	NF2	Single nucleotide variant (splice donor variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 681582	NM_000268.4(NF2):c.810+23_810+25del	NF2	Deletion (intron variant)	not provided +2 more	GLikely benign
Select item 676988	NM_000268.4(NF2):c.810+246A>G	NF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235404	NM_000268.4(NF2):c.885+183del	NF2	Deletion (intron variant)	not provided	GBenign
Select item 1186163	NM_000268.4(NF2):c.885+248C>T	NF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221398	NM_000268.4(NF2):c.886-248GT[3]	NF2	Microsatellite (intron variant)	not provided	GBenign
Select item 676989	NM_000268.4(NF2):c.886-205C>T	NF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 567430	NM_000268.4(NF2):c.904G>A (p.Gly302Arg)	NF2 (G302R +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 1046727	NM_000268.4(NF2):c.916C>G (p.Leu306Val)	NF2 (L265V +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 380975	NM_000268.4(NF2):c.947T>G (p.Leu316Trp)	NF2 (L316W +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer +3 more	GConflicting classifications of pathogenicity
Select item 3364184	NM_000268.4(NF2):c.956A>G (p.Gln319Arg)	NF2 (Q236R +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 683803	NM_000268.4(NF2):c.999+296A>G	NF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676992	NM_000268.4(NF2):c.1000-212_1000-210del	NF2	Deletion (intron variant)	not provided	GBenign

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