"Baylor Genetics"[submitter] AND "NF2"[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2677252	NM_000268.4(NF2):c.7G>C (p.Gly3Arg)	NF2 (G3R)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2 +1 more	GUncertain significance
Select item 1787623	NM_000268.4(NF2):c.22_23delinsAA (p.Arg8Asn)	NF2 (R8N)	Indel (missense variant +1 more)	Neurofibromatosis, type 2 +2 more	GUncertain significance
Select item 2677250	NM_000268.4(NF2):c.35G>C (p.Ser12Thr)	NF2 (S12T)	Single nucleotide variant (missense variant +2 more)	Familial meningioma	GUncertain significance
Select item 1484088	NM_000268.4(NF2):c.55C>T (p.Pro19Ser)	NF2 (P19S)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 2 +2 more	GUncertain significance
Select item 580062	NM_000268.4(NF2):c.74G>A (p.Arg25Lys)	NF2 (R25K)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 3239945	NM_000268.4(NF2):c.99G>A (p.Met33Ile)	NF2 (M33I)	Single nucleotide variant (missense variant +2 more)	Familial meningioma	GUncertain significance
Select item 943289	NM_000268.4(NF2):c.114+4A>G	NF2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1770340	NM_000268.4(NF2):c.133G>T (p.Asp45Tyr)	NF2 (D7Y +1 more)	Single nucleotide variant (missense variant +2 more)	Familial meningioma +1 more	GUncertain significance
Select item 1784726	NM_000268.4(NF2):c.202A>G (p.Ile68Val)	NF2 (I68V +1 more)	Single nucleotide variant (missense variant +2 more)	Familial meningioma +2 more	GUncertain significance
Select item 569354	NM_000268.4(NF2):c.215T>C (p.Val72Ala)	NF2 (V72A)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2 +4 more	GUncertain significance
Select item 944347	NM_000268.4(NF2):c.263A>G (p.Lys88Arg)	NF2 (K88R +1 more)	Single nucleotide variant (missense variant +2 more)	Familial meningioma +2 more	GUncertain significance
Select item 1442933	NM_000268.4(NF2):c.302A>G (p.Tyr101Cys)	NF2 (Y101C +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 412211	NM_000268.4(NF2):c.345A>T (p.Gln115His)	NF2 (Q115H +1 more)	Single nucleotide variant (missense variant +2 more)	Familial meningioma +2 more	GUncertain significance
Select item 655094	NM_000268.4(NF2):c.347A>G (p.His116Arg)	NF2 (H116R +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1058201	NM_000268.4(NF2):c.376A>G (p.Ile126Val)	NF2 (I126V +3 more)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 2 +2 more	GUncertain significance
Select item 3239944	NM_000268.4(NF2):c.388A>G (p.Lys130Glu)	NF2 (K53E +5 more)	Single nucleotide variant (missense variant +2 more)	Familial meningioma	GUncertain significance
Select item 237624	NM_000268.4(NF2):c.391A>C (p.Ile131Leu)	NF2 (I131L +3 more)	Single nucleotide variant (missense variant +1 more)	Familial meningioma +1 more	GUncertain significance
Select item 2677251	NM_000268.4(NF2):c.447+166T>G	NF2	Single nucleotide variant (intron variant)	Familial meningioma	GUncertain significance
Select item 640208	NM_000268.4(NF2):c.457T>C (p.Tyr153His)	NF2 (Y70H +3 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2 +2 more	GConflicting classifications of pathogenicity
Select item 1741876	NM_000268.4(NF2):c.460G>A (p.Asp154Asn)	NF2 (D154N +5 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1030706	NM_000268.4(NF2):c.463C>G (p.Pro155Ala)	NF2 (P155A +3 more)	Single nucleotide variant (missense variant +2 more)	Familial meningioma +1 more	GUncertain significance
Select item 2143198	NM_000268.4(NF2):c.469G>C (p.Val157Leu)	NF2 (V116L +5 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2 +1 more	GUncertain significance
Select item 2677246	NM_000268.4(NF2):c.475_476inv (p.Lys159Leu)	NF2 (K117L +5 more)	Inversion (missense variant +2 more)	Neurofibromatosis, type 2 +1 more	GUncertain significance
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 940871	NM_000268.4(NF2):c.558G>C (p.Glu186Asp)	NF2 (E103D +3 more)	Single nucleotide variant (missense variant +2 more)	Familial meningioma +1 more	GUncertain significance
Select item 1525314	NM_000268.4(NF2):c.593G>A (p.Arg198Gln)	NF2 (R115Q +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 457924	NM_000268.4(NF2):c.595G>A (p.Ala199Thr)	NF2 (A199T +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 2677254	NM_000268.4(NF2):c.599+1G>C	NF2	Single nucleotide variant (splice donor variant +1 more)	Familial meningioma	GLikely pathogenic
Select item 639228	NM_000268.4(NF2):c.670A>G (p.Ile224Val)	NF2 (I224V +3 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2 +2 more	GUncertain significance
Select item 1030707	NM_000268.4(NF2):c.675+5G>T	NF2	Single nucleotide variant (intron variant)	Neurofibromatosis, type 2	GLikely pathogenic
Select item 2677248	NM_000268.4(NF2):c.675+172G>T	NF2	Single nucleotide variant (intron variant)	Familial meningioma	GUncertain significance
Select item 2677253	NM_000268.4(NF2):c.675+182A>G	NF2	Single nucleotide variant (intron variant)	Familial meningioma	GUncertain significance
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 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 1516736	NM_000268.4(NF2):c.754C>G (p.Pro252Ala)	NF2 (P211A +3 more)	Single nucleotide variant (missense variant +2 more)	Familial meningioma +1 more	GUncertain significance
Select item 651559	NM_000268.4(NF2):c.770C>T (p.Pro257Leu)	NF2 (P174L +3 more)	Single nucleotide variant (missense variant +2 more)	Familial meningioma +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 457888	NM_000268.4(NF2):c.1000A>G (p.Met334Val)	NF2 (M334V +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 393183	NM_000268.4(NF2):c.1012C>T (p.Arg338Cys)	NF2 (R338C +3 more)	Single nucleotide variant (missense variant +2 more)	Familial meningioma +3 more	GUncertain significance
Select item 527694	NM_000268.4(NF2):c.1022G>A (p.Arg341Gln)	NF2 (R341Q +3 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2 +2 more	GUncertain significance
Select item 569661	NM_000268.4(NF2):c.1055C>T (p.Thr352Met)	NF2 (T352M +3 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2 +2 more	GUncertain significance
Select item 2677245	NM_000268.4(NF2):c.1142C>T (p.Ala381Val)	NF2 (A203V +8 more)	Single nucleotide variant (missense variant +1 more)	Familial meningioma	GUncertain significance
Select item 1007883	NM_000268.4(NF2):c.1174G>A (p.Glu392Lys)	NF2 (E309K +3 more)	Single nucleotide variant (missense variant +2 more)	Familial meningioma +2 more	GUncertain significance
Select item 1043876	NM_000268.4(NF2):c.1237A>G (p.Lys413Glu)	NF2 (K330E +3 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2 +1 more	GUncertain significance
Select item 571182	NM_000268.4(NF2):c.1252C>T (p.Arg418Cys)	NF2 (R418C +3 more)	Single nucleotide variant (missense variant +2 more)	Familial meningioma +3 more	GUncertain significance
Select item 956748	NM_000268.4(NF2):c.1264G>A (p.Glu422Lys)	NF2 (E380K +3 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 2677244	NM_000268.4(NF2):c.1271G>C (p.Arg424Pro)	NF2 (R246P +8 more)	Single nucleotide variant (missense variant +1 more)	Familial meningioma	GUncertain significance
Select item 1770382	NM_000268.4(NF2):c.1341G>T (p.Arg447Ser)	NF2 (R370S +8 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2 +2 more	GUncertain significance
Select item 998281	NM_000268.4(NF2):c.1395_1396delinsAT (p.Arg466Ter)	NF2 (R383* +3 more)	Indel (nonsense +2 more)	Neurofibromatosis, type 2	GPathogenic
Select item 412212	NM_000268.4(NF2):c.1396C>G (p.Arg466Gly)	NF2 (R466G +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 654279	NM_000268.4(NF2):c.1400G>A (p.Arg467Lys)	NF2 (R425K +3 more)	Single nucleotide variant (missense variant +2 more)	Familial meningioma +2 more	GUncertain significance
Select item 341073	NM_000268.4(NF2):c.1439C>T (p.Thr480Met)	NF2 (T480M +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 412215	NM_000268.4(NF2):c.1446G>A (p.Pro482=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 3239948	NM_000268.4(NF2):c.1507G>T (p.Asp503Tyr)	NF2 (D325Y +8 more)	Single nucleotide variant (missense variant +2 more)	Familial meningioma	GUncertain significance
Select item 201125	NM_000268.4(NF2):c.1540A>G (p.Met514Val)	NF2 (M514V +3 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2 +3 more	GConflicting classifications of pathogenicity
Select item 574082	NM_000268.4(NF2):c.1547G>A (p.Arg516Gln)	NF2 (R516Q +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2764051	NM_000268.4(NF2):c.1562T>C (p.Ile521Thr)	NF2 (I438T +8 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2 +1 more	GUncertain significance
Select item 2677247	NM_000268.4(NF2):c.1575-24T>A	NF2	Single nucleotide variant (intron variant)	Familial meningioma	GUncertain significance
Select item 2624988	NM_000268.4(NF2):c.1577T>C (p.Val526Ala)	NF2 (V348A +8 more)	Single nucleotide variant (missense variant +1 more)	Familial meningioma +1 more	GUncertain significance
Select item 1043361	NM_000268.4(NF2):c.1585A>G (p.Met529Val)	NF2 (M529V +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 854568	NM_000268.4(NF2):c.1600C>T (p.His534Tyr)	NF2 (H451Y +3 more)	Single nucleotide variant (missense variant +2 more)	Familial meningioma +2 more	GUncertain significance
Select item 2677249	NM_000268.4(NF2):c.1615C>G (p.Leu539Val)	NF2 (L361V +8 more)	Single nucleotide variant (missense variant +1 more)	Familial meningioma +1 more	GUncertain significance
Select item 435976	NM_000268.4(NF2):c.1635A>T (p.Glu545Asp)	NF2 (E545D +3 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2 +3 more	GUncertain significance
Select item 960618	NM_000268.4(NF2):c.1661G>A (p.Arg554Lys)	NF2 (R513K +3 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2 +2 more	GUncertain significance
Select item 1777589	NM_000268.4(NF2):c.1667C>T (p.Thr556Ile)	NF2 (T378I +8 more)	Single nucleotide variant (missense variant +2 more)	Familial meningioma +1 more	GUncertain significance
Select item 819763	NM_000268.4(NF2):c.1675G>T (p.Asp559Tyr)	NF2 (D476Y +3 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2 +2 more	GUncertain significance
Select item 819850	NM_000268.4(NF2):c.1706G>A (p.Gly569Asp)	NF2 (G528D +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 3239946	NM_000268.4(NF2):c.1712G>T (p.Ser571Ile)	NF2 (S393I +8 more)	Single nucleotide variant (missense variant +1 more)	Familial meningioma	GUncertain significance
Select item 3239947	NM_000268.4(NF2):c.1729A>G (p.Ile577Val)	NF2 (I399V +8 more)	Single nucleotide variant (missense variant +1 more)	Familial meningioma	GUncertain significance
Select item 412213	NM_000268.4(NF2):c.1774T>C (p.Phe592Leu)	NF2 (F592L +1 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2 +2 more	GConflicting classifications of pathogenicity
Select item 561064	NM_000268.4(NF2):c.1786T>C (p.Ter596Gln)	NF2	Single nucleotide variant (stop lost +2 more)	Neurofibromatosis, type 2	GUncertain significance

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Items: 71