"Ambry Genetics"[submitter] AND "NF2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2453837	NM_000268.4(NF2):c.-5G>A	NF2	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2447480	NM_000268.4(NF2):c.-5G>T	NF2	Single nucleotide variant (5 prime UTR variant +1 more)	Neurofibromatosis, type 2 +1 more	GUncertain significance
Select item 1736918	NM_000268.4(NF2):c.-4_-3delinsAA	NF2	Indel (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1784201	NM_000268.4(NF2):c.-1C>T	NF2	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2453816	NM_000268.4(NF2):c.3G>A (p.Met1Ile)	NF2 (M1I)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1554482	NM_000268.4(NF2):c.9G>C (p.Gly3=)	NF2	Single nucleotide variant (synonymous variant +1 more)	Neurofibromatosis, type 2 +1 more	GLikely benign
Select item 1118453	NM_000268.4(NF2):c.9G>A (p.Gly3=)	NF2	Single nucleotide variant (synonymous variant +1 more)	Neurofibromatosis, type 2 +1 more	GLikely benign
Select item 3231069	NM_000268.4(NF2):c.10G>C (p.Ala4Pro)	NF2 (A4P)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1408684	NM_000268.4(NF2):c.10G>T (p.Ala4Ser)	NF2 (A4S)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 2 +1 more	GUncertain significance
Select item 2568067	NM_000268.4(NF2):c.12_22delinsTTCA (p.Ile5fs)	NF2 (I5fs)	Indel (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
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 643742	NM_000268.4(NF2):c.15C>G (p.Ile5Met)	NF2 (I5M)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 2 +1 more	GUncertain significance
Select item 2453839	NM_000268.4(NF2):c.16G>A (p.Ala6Thr)	NF2 (A6T)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 819873	NM_000268.4(NF2):c.16G>C (p.Ala6Pro)	NF2 (A6P)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1692362	NM_000268.4(NF2):c.20C>T (p.Ser7Phe)	NF2 (S7F)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1787595	NM_000268.4(NF2):c.21C>T (p.Ser7=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2278982	NM_000268.4(NF2):c.22C>G (p.Arg8Gly)	NF2 (R8G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1789255	NM_000268.4(NF2):c.22C>A (p.Arg8Ser)	NF2 (R8S)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 2 +1 more	GConflicting classifications of pathogenicity
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 1790716	NM_000268.4(NF2):c.23G>A (p.Arg8His)	NF2 (R8H)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1475296	NM_000268.4(NF2):c.23G>T (p.Arg8Leu)	NF2 (R8L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 821551	NM_000268.4(NF2):c.25A>G (p.Met9Val)	NF2 (M9V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3231094	NM_000268.4(NF2):c.26T>A (p.Met9Lys)	NF2 (M9K)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1034701	NM_000268.4(NF2):c.32T>G (p.Phe11Cys)	NF2 (F11C)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 2 +1 more	GUncertain significance
Select item 3231096	NM_000268.4(NF2):c.34A>C (p.Ser12Arg)	NF2 (S12R)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
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 2453842	NM_000268.4(NF2):c.41T>C (p.Leu14Pro)	NF2 (L14P)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2587709	NM_000268.4(NF2):c.43A>C (p.Lys15Gln)	NF2 (K15Q)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2 +1 more	GUncertain significance
Select item 3231098	NM_000268.4(NF2):c.45G>A (p.Lys15=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 457918	NM_000268.4(NF2):c.48G>A (p.Arg16=)	NF2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1466141	NM_000268.4(NF2):c.49A>C (p.Lys17Gln)	NF2 (K17Q)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 2 +1 more	GUncertain significance
Select item 1056444	NM_000268.4(NF2):c.50A>G (p.Lys17Arg)	NF2 (K17R)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 2 +1 more	GUncertain significance
Select item 3299415	NM_000268.4(NF2):c.51G>T (p.Lys17Asn)	NF2 (K17N)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	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 825907	NM_000268.4(NF2):c.56C>G (p.Pro19Arg)	NF2 (P19R)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 2 +1 more	GUncertain significance
Select item 3074912	NM_000268.4(NF2):c.57C>T (p.Pro19=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Neurofibromatosis, type 2 +1 more	GLikely benign
Select item 2568050	NM_000268.4(NF2):c.59A>C (p.Lys20Thr)	NF2 (K20T)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2061005	NM_000268.4(NF2):c.61A>G (p.Thr21Ala)	NF2 (T21A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1753332	NM_000268.4(NF2):c.63G>T (p.Thr21=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1463142	NM_000268.4(NF2):c.69C>T (p.Thr23=)	NF2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 826903	NM_000268.4(NF2):c.71T>C (p.Val24Ala)	NF2 (V24A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1104143	NM_000268.4(NF2):c.72G>A (p.Val24=)	NF2	Single nucleotide variant (synonymous variant +1 more)	Neurofibromatosis, type 2 +1 more	GLikely benign
Select item 719886	NM_000268.4(NF2):c.72G>C (p.Val24=)	NF2	Single nucleotide variant (synonymous variant +1 more)	Neurofibromatosis, type 2 +1 more	GLikely benign
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 1760200	NM_000268.4(NF2):c.76A>T (p.Ile26Phe)	NF2 (I26F)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1692364	NM_000268.4(NF2):c.76A>G (p.Ile26Val)	NF2 (I26V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1113514	NM_000268.4(NF2):c.78C>T (p.Ile26=)	NF2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 822515	NM_000268.4(NF2):c.84C>T (p.Thr28=)	NF2	Single nucleotide variant (synonymous variant +1 more)	Neurofibromatosis, type 2 +1 more	GLikely benign
Select item 848840	NM_000268.4(NF2):c.85A>G (p.Met29Val)	NF2 (M29V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 822807	NM_000268.4(NF2):c.88G>A (p.Asp30Asn)	NF2 (D30N)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1765798	NM_000268.4(NF2):c.90C>T (p.Asp30=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1011330	NM_000268.4(NF2):c.93C>A (p.Ala31=)	NF2	Single nucleotide variant (synonymous variant +1 more)	Neurofibromatosis, type 2 +1 more	GLikely benign
Select item 3299428	NM_000268.4(NF2):c.94G>T (p.Glu32Ter)	NF2 (E32*)	Single nucleotide variant (nonsense +2 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 823288	NM_000268.4(NF2):c.94G>A (p.Glu32Lys)	NF2 (E32K)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2453836	NM_000268.4(NF2):c.97A>T (p.Met33Leu)	NF2 (M33L)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1056223	NM_000268.4(NF2):c.100G>C (p.Glu34Gln)	NF2 (E34Q)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 2 +1 more	GConflicting classifications of pathogenicity
Select item 818315	NM_000268.4(NF2):c.105C>T (p.Phe35=)	NF2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1782914	NM_000268.4(NF2):c.106A>G (p.Asn36Asp)	NF2 (N36D)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 2 +1 more	GUncertain significance
Select item 818351	NM_000268.4(NF2):c.107A>T (p.Asn36Ile)	NF2 (N36I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 134892	NM_000268.4(NF2):c.107A>G (p.Asn36Ser)	NF2 (N36S)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 2 +3 more	GConflicting classifications of pathogenicity
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 3231071	NM_000268.4(NF2):c.114+5C>A	NF2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1734975	NM_000268.4(NF2):c.115-4G>T	NF2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1483738	NM_000268.4(NF2):c.115-3C>T	NF2	Single nucleotide variant (intron variant)	Neurofibromatosis, type 2 +1 more	GUncertain significance
Select item 966633	NM_000268.4(NF2):c.115A>G (p.Met39Val)	NF2 (M39V)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2453818	NM_000268.4(NF2):c.120G>A (p.Lys40=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 751421	NM_000268.4(NF2):c.126A>G (p.Lys42=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Neurofibromatosis, type 2 +1 more	GLikely benign
Select item 772087	NM_000268.4(NF2):c.132G>A (p.Lys44=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
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 1770559	NM_000268.4(NF2):c.134A>G (p.Asp45Gly)	NF2 (D45G +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 700743	NM_000268.4(NF2):c.135C>T (p.Asp45=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Neurofibromatosis, type 2 +1 more	GLikely benign
Select item 1771493	NM_000268.4(NF2):c.138C>A (p.Leu46=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 844896	NM_000268.4(NF2):c.142G>A (p.Asp48Asn)	NF2 (D48N)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1772922	NM_000268.4(NF2):c.144T>C (p.Asp48=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2912660	NM_000268.4(NF2):c.145T>A (p.Leu49Met)	NF2 (L49M +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1773143	NM_000268.4(NF2):c.145T>G (p.Leu49Val)	NF2 (L49V +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1773139	NM_000268.4(NF2):c.145T>C (p.Leu49=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 819417	NM_000268.4(NF2):c.150G>A (p.Val50=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1774806	NM_000268.4(NF2):c.153C>T (p.Cys51=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 849398	NM_000268.4(NF2):c.154C>T (p.Arg52Trp)	NF2 (R52W)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1775227	NM_000268.4(NF2):c.155G>A (p.Arg52Gln)	NF2 (R14Q +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3299447	NM_000268.4(NF2):c.157A>T (p.Thr53Ser)	NF2 (T15S +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1776112	NM_000268.4(NF2):c.159T>A (p.Thr53=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1776366	NM_000268.4(NF2):c.160C>T (p.Leu54=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1776588	NM_000268.4(NF2):c.161T>G (p.Leu54Arg)	NF2 (L54R +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 952692	NM_000268.4(NF2):c.162G>A (p.Leu54=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
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 457905	NM_000268.4(NF2):c.170G>A (p.Arg57Gln)	NF2 (R57Q)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1779352	NM_000268.4(NF2):c.174A>C (p.Glu58Asp)	NF2 (E58D +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1692361	NM_000268.4(NF2):c.177C>G (p.Thr59=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2008782	NM_000268.4(NF2):c.178T>C (p.Trp60Arg)	NF2 (W22R +1 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2 +1 more	GUncertain significance
Select item 1780339	NM_000268.4(NF2):c.179G>C (p.Trp60Ser)	NF2 (W22S +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1002192	NM_000268.4(NF2):c.182T>C (p.Phe61Ser)	NF2 (F61S)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2 +2 more	GUncertain significance
Select item 1094957	NM_000268.4(NF2):c.183C>T (p.Phe61=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Neurofibromatosis, type 2 +1 more	GLikely benign
Select item 719331	NM_000268.4(NF2):c.186T>C (p.Phe62=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Neurofibromatosis, type 2 +1 more	GLikely benign
Select item 1130491	NM_000268.4(NF2):c.190C>T (p.Leu64=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Neurofibromatosis, type 2 +1 more	GLikely benign
Select item 1782852	NM_000268.4(NF2):c.192G>A (p.Leu64=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1783182	NM_000268.4(NF2):c.194A>G (p.Gln65Arg)	NF2 (Q65R +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	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 3299410	NM_000268.4(NF2):c.200_201del (p.Thr67fs)	NF2 (T67fs +1 more)	Microsatellite (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome	GPathogenic

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