View all transcript variants in gene NF2

Information The variants shown are described using the NM_000268.3 transcript reference sequence.

300 entries on 3 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Chr     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
./. c.-402A>G p.(=) - - - - r.(=) - 22 Unknown - g.29999586A>G - - - NF2_000285 MSCV_0019766 - - ; clinvar; - - - -
./. c.-397C>T p.(=) - - - - r.(=) - 22 Unknown - g.29999591C>T - - - NF2_000286 MSCV_0019767 - - ; clinvar; - - - -
./. c.-320C>T p.(=) - - - - r.(=) - 22 Unknown - g.29999668C>T - - - NF2_000283 MSCV_0019768 - - ; clinvar; - - - -
./. c.-284C>A p.(=) - - - - r.(=) - 22 Unknown - g.29999704C>A - - - NF2_000284 MSCV_0019769 - - ; clinvar; - - - -
./. c.-268G>T p.(=) - - - - r.(=) - 22 Unknown - g.29999720G>T - - - NF2_000281 MSCV_0019770 - - ; clinvar; - - - -
./. c.-246C>G p.(=) - - - - r.(=) - 22 Unknown - g.29999742C>G - - - NF2_000282 MSCV_0019771 - - ; clinvar; - - - -
./. c.-245C>G p.(=) - - - - r.(=) - 22 Unknown - g.29999743C>G - - - NF2_000271 MSCV_0019772 - - ; clinvar; - - - -
./. c.-204C>A p.(=) - - - - r.(=) - 22 Unknown - g.29999784C>A - - - NF2_000272 MSCV_0019773 - - ; clinvar; - - - -
./. c.-110G>C p.(=) - - - - r.(=) - 22 Unknown - g.29999878G>C - - - NF2_000273 MSCV_0019774 - - ; clinvar; - - - -
./. c.-18G>A p.(=) - - - - r.(=) - 22 Unknown - g.29999970G>A - - - NF2_000274 MSCV_0019775 - - ; clinvar; - - - -
./. c.12C>T p.(=) - - - - r.(=) - 22 Unknown - g.29999999C>T - - - NF2_000275 MSCV_0019776 - - ; clinvar; - - - -
./. c.43A>T p.(Lys15*) - - - - r.(?) - 22 Unknown - g.30000030A>T - - - NF2_000223 MSCV_0019777 - - ; clinvar; - - - -
./. c.48G>A p.(=) - - - - r.(=) - 22 Unknown - g.30000035G>A - - - NF2_000224 MSCV_0019778 - - ; clinvar; - - - -
./. c.107A>G p.(Asn36Ser) - - - - r.(?) - 22 Unknown - g.30000094A>G - - - NF2_000225 MSCV_0019779 - - ; clinvar; - - - -
./. c.111C>T p.(=) - - - - r.(=) - 22 Unknown - g.30000098C>T - - - NF2_000226 MSCV_0019780 - - ; clinvar; - - - -
./. c.114+6C>G p.(=) - - - - r.(=) - 22 Unknown - g.30000107C>G - - - NF2_000227 MSCV_0019781 - - ; clinvar; - - - -
./. c.170G>A p.(Arg57Gln) - - - - r.(?) - 22 Unknown - g.30032795G>A - - - NF2_000228 MSCV_0019782 - - ; clinvar; - - - -
./. c.180G>A p.(Trp60*) - - - - r.(?) - 22 Unknown - g.30032805G>A - - - NF2_000229 MSCV_0019783 - - ; clinvar; - - - -
./. c.185T>C p.(Phe62Ser) - - - - r.(?) - 22 Unknown - g.30032810T>C - - - NF2_000014 MSCV_0000902 - - ; clinvar; - - - -
+/+ c.185T>C p.(Phe62Ser) missense_variant - 2/16 probably_damaging(1) r.(?) deleterious(0) 22 Unknown subst g.30032810T>C - 6.020 - NF2_000014 MSCV_0000902 rs121434261 - ; clinvar; 8081368;12118253;8757035 - - -
./. c.196T>A p.(Tyr66Asn) - - - - r.(?) - 22 Unknown - g.30032821T>A - - - NF2_000230 MSCV_0019785 - - ; clinvar; - - - -
./. c.240+1G>T p.? - - - - r.spl? - 22 Unknown - g.30032866G>T - - - NF2_000012 MSCV_0000903 - - ; clinvar; - - - -
?/? c.240+1G>T p.? splice_donor_variant - - - r.spl? - 22 Unknown subst g.30032866G>T - 5.720 - NF2_000012 MSCV_0000903 - - ; - - - -
./. c.240+15C>T p.(=) - - - - r.(=) - 22 Unknown - g.30032880C>T - - - NF2_000231 MSCV_0019787 - - ; clinvar; - - - -
./. c.243_248del p.(Leu82_Asp83del) - - - - r.(?) - 22 Unknown - g.30035081_30035086del - - - NF2_000232 MSCV_0019788 - - ; clinvar; - - - -
./. c.246G>A p.(=) - - - - r.(=) - 22 Unknown - g.30035084G>A - - - NF2_000233 MSCV_0019789 - - ; clinvar; - - - -
./. c.255T>C p.(=) - - - - r.(=) - 22 Unknown - g.30035093T>C - - - NF2_000234 MSCV_0019790 - - ; clinvar; - - - -
./. c.271C>A p.(Pro91Thr) - - - - r.(?) - 22 Unknown - g.30035109C>A - - - NF2_000235 MSCV_0019791 - - ; clinvar; - - - -
./. c.273del p.(Val92Serfs*31) - - - - r.(?) - 22 Unknown - g.30035111del - - - NF2_000236 MSCV_0019792 - - ; clinvar; - - - -
./. c.285_287del p.(Phe96del) - - - - r.(?) - 22 Unknown - g.30035123_30035125del - - - NF2_000093 MSCV_0019793 - - ; clinvar; - - - -
+/+ c.286_288del p.(Phe96del) - - - - r.(?) - 22 Unknown del g.30035124_30035126del - - - NF2_000013 MSCV_0000904 rs121434260 - ; clinvar; 7913580 - - -
./. c.293C>A p.(Ala98Asp) - - - - r.(?) - 22 Unknown - g.30035131C>A - - - NF2_000094 MSCV_0019794 - - ; clinvar; - - - -
./. c.294C>G p.(=) - - - - r.(=) - 22 Unknown - g.30035132C>G - - - NF2_000095 MSCV_0019795 - - ; clinvar; - - - -
./. c.300T>A p.(Phe100Leu) - - - - r.(?) - 22 Unknown - g.30035138T>A - - - NF2_000096 MSCV_0019796 - - ; clinvar; - - - -
./. c.302A>T p.(Tyr101Phe) - - - - r.(?) - 22 Unknown - g.30035140A>T - - - NF2_000097 MSCV_0019797 - - ; clinvar; - - - -
./. c.325C>T p.(=) - - - - r.(=) - 22 Unknown - g.30035163C>T - - - NF2_000098 MSCV_0019798 - - ; clinvar; - - - -
./. c.345A>T p.(Gln115His) - - - - r.(?) - 22 Unknown - g.30035183A>T - - - NF2_000099 MSCV_0019799 - - ; clinvar; - - - -
./. c.354C>T p.(=) - - - - r.(=) - 22 Unknown - g.30035192C>T - - - NF2_000100 MSCV_0019800 - - ; clinvar; - - - -
./. c.363+3A>T p.? - - - - r.spl? - 22 Unknown - g.30035204A>T - - - NF2_000101 MSCV_0019801 - - ; clinvar; - - - -
./. c.364-9T>C p.(=) - - - - r.(=) - 22 Unknown - g.30038182T>C - - - NF2_000102 MSCV_0019802 - - ; clinvar; - - - -
./. c.391A>C p.(Ile131Leu) - - - - r.(?) - 22 Unknown - g.30038218A>C - - - NF2_000103 MSCV_0019803 - - ; clinvar; - - - -
./. c.400C>T p.(Pro134Ser) - - - - r.(?) - 22 Unknown - g.30038227C>T - - - NF2_000104 MSCV_0019804 - - ; clinvar; - - - -
./. c.401C>T p.(Pro134Leu) - - - - r.(?) - 22 Unknown - g.30038228C>T - - - NF2_000105 MSCV_0019805 - - ; clinvar; - - - -
./. c.432C>G p.(Tyr144*) - - - - r.(?) - 22 Unknown - g.30038259C>G - - - NF2_000106 MSCV_0019806 - - ; clinvar; - - - -
./. c.447+10_447+12del p.(=) - - - - r.(=) - 22 Unknown - g.30038284_30038286del - - - NF2_000107 MSCV_0019807 - - ; clinvar; - - - -
./. c.448-5T>C p.? - - - - r.spl? - 22 Unknown - g.30050641T>C - - - NF2_000108 MSCV_0019808 - - ; clinvar; - - - -
./. c.448-4C>G p.? - - - - r.spl? - 22 Unknown - g.30050642C>G - - - NF2_000109 MSCV_0019809 - - ; clinvar; - - - -
./. c.459C>T p.(=) - - - - r.(=) - 22 Unknown - g.30050657C>T - - - NF2_000110 MSCV_0019810 - - ; clinvar; - - - -
./. c.465C>T p.(=) - - - - r.(=) - 22 Unknown - g.30050663C>T - - - NF2_000111 MSCV_0019811 - - ; clinvar; - - - -
./. c.478C>T p.(Arg160Trp) - - - - r.(?) - 22 Unknown - g.30050676C>T - - - NF2_000112 MSCV_0019812 - - ; clinvar; - - - -
./. c.517-4G>A p.? - - - - r.spl? - 22 Unknown - g.30051579G>A - - - NF2_000113 MSCV_0019813 - - ; clinvar; - - - -
./. c.517-2A>G p.? - - - - r.spl? - 22 Unknown - g.30051581A>G - - - NF2_000114 MSCV_0019814 - - ; clinvar; - - - -
./. c.543G>A p.(=) - - - - r.(=) - 22 Unknown - g.30051609G>A - - - NF2_000115 MSCV_0019815 - - ; clinvar; - - - -
./. c.544G>T p.(Glu182*) - - - - r.(?) - 22 Unknown - g.30051610G>T - - - NF2_000001 MSCV_0000905 - - ; clinvar; - - - -
+/+ c.544G>T p.(Glu182*) stop_gained - 6/16 - r.(?) - 22 Unknown subst g.30051610G>T - 5.410 - NF2_000001 MSCV_0000905 rs74315495 - ; clinvar; 7913580 - - -
./. c.560G>A p.(Arg187Lys) - - - - r.(?) - 22 Unknown - g.30051626G>A - - - NF2_000116 MSCV_0019817 - - ; clinvar; - - - -
./. c.563_564del p.(Ile188Asnfs*14) - - - - r.(?) - 22 Unknown - g.30051629_30051630del - - - NF2_000237 MSCV_0019818 - - ; clinvar; - - - -
./. c.576C>T p.(=) - - - - r.(=) - 22 Unknown - g.30051642C>T - - - NF2_000238 MSCV_0019819 - - ; clinvar; - - - -
./. c.579A>G p.(=) - - - - r.(=) - 22 Unknown - g.30051645A>G - - - NF2_000239 MSCV_0019820 - - ; clinvar; - - - -
./. c.586C>T p.(Arg196*) - - - - r.(?) - 22 Unknown - g.30051652C>T - - - NF2_000240 MSCV_0019821 - - ; clinvar; - - - -
./. c.592C>T p.(Arg198*) - - - - r.(?) - 22 Unknown - g.30051658C>T - - - NF2_000241 MSCV_0019822 - - ; clinvar; - - - -
./. c.595G>A p.(Ala199Thr) - - - - r.(?) - 22 Unknown - g.30051661G>A - - - NF2_000242 MSCV_0019823 - - ; clinvar; - - - -
./. c.599+1G>T p.? - - - - r.spl? - 22 Unknown - g.30051666G>T - - - NF2_000243 MSCV_0019824 - - ; clinvar; - - - -
./. c.599+3G>A p.? - - - - r.spl? - 22 Unknown - g.30051668G>A - - - NF2_000244 MSCV_0019825 - - ; clinvar; - - - -
./. c.600-13G>A p.(=) - - - - r.(=) - 22 Unknown - g.30054165G>A - - - NF2_000245 MSCV_0019826 - - ; clinvar; - - - -
./. c.600-6C>T p.(=) - - - - r.(=) - 22 Unknown - g.30054172C>T - - - NF2_000276 MSCV_0019827 - - ; clinvar; - - - -
./. c.613A>G p.(Met205Val) - - - - r.(?) - 22 Unknown - g.30054191A>G - - - NF2_000277 MSCV_0019828 - - ; clinvar; - - - -
./. c.614T>C p.(Met205Thr) - - - - r.(?) - 22 Unknown - g.30054192T>C - - - NF2_000278 MSCV_0019829 - - ; clinvar; - - - -
./. c.656_657insA p.(Asn220Glufs*8) - - - - r.(?) - 22 Unknown - g.30054234_30054235insA - - - NF2_000279 MSCV_0019830 - - ; clinvar; - - - -
./. c.676-2A>G p.? - - - - r.spl? - 22 Unknown - g.30057192A>G - - - NF2_000280 MSCV_0019831 - - ; clinvar; - - - -
./. c.676A>C p.(Asn226His) - - - - r.(?) - 22 Unknown - g.30057194A>C - - - NF2_000264 MSCV_0019832 - - ; clinvar; - - - -
./. c.683A>G p.(Lys228Arg) - - - - r.(?) - 22 Unknown - g.30057201A>G - - - NF2_000117 MSCV_0019833 - - ; clinvar; - - - -
./. c.771G>A p.(=) - - - - r.(=) - 22 Unknown - g.30057289G>A - - - NF2_000118 MSCV_0019834 - - ; clinvar; - - - -
./. c.783C>T p.(=) - - - - r.(=) - 22 Unknown - g.30057301C>T - - - NF2_000119 MSCV_0019835 - - ; clinvar; - - - -
./. c.784C>T p.(Arg262*) - - - - r.(?) - 22 Unknown - g.30057302C>T - - - NF2_000002 MSCV_0000906 - - ; clinvar; - - - -
+/+ c.784C>T p.(Arg262*) stop_gained - 8/16 - r.(?) - 22 Unknown subst g.30057302C>T - 2.320 - NF2_000002 MSCV_0000906 rs74315496 - ; clinvar; 7913580 - - -
./. c.789C>T p.(=) - - - - r.(=) - 22 Unknown - g.30057307C>T - - - NF2_000120 MSCV_0019837 - - ; clinvar; - - - -
./. c.798C>G p.(Tyr266*) - - - - r.(?) - 22 Unknown - g.30057316C>G - - - NF2_000122 MSCV_0019839 - - ; clinvar; - - - -
./. c.798C>T p.(=) - - - - r.(=) - 22 Unknown - g.30057316C>T - - - NF2_000121 MSCV_0019838 - - ; clinvar; - - - -
./. c.849C>T p.(=) - - - - r.(=) - 22 Unknown - g.30061017C>T - - - NF2_000123 MSCV_0019840 - - ; clinvar; - - - -
./. c.861C>T p.(=) - - - - r.(=) - 22 Unknown - g.30061029C>T - - - NF2_000069 MSCV_0019841 - - ; clinvar; - - - -
./. c.879T>C p.(=) - - - - r.(=) - 22 Unknown - g.30061047T>C - - - NF2_000070 MSCV_0019842 - - ; clinvar; - - - -
./. c.882G>A p.(=) - - - - r.(=) - 22 Unknown - g.30061050G>A - - - NF2_000071 MSCV_0019843 - - ; clinvar; - - - -
./. c.885+10G>C p.(=) - - - - r.(=) - 22 Unknown - g.30061063G>C - - - NF2_000072 MSCV_0019844 - - ; clinvar; - - - -
./. c.886-15C>T p.(=) - - - - r.(=) - 22 Unknown - g.30064307C>T - - - NF2_000073 MSCV_0019845 - - ; clinvar; - - - -
./. c.903C>T p.(=) - - - - r.(=) - 22 Unknown - g.30064339C>T - - - NF2_000074 MSCV_0019846 - - ; clinvar; - - - -
./. c.911A>G p.(His304Arg) - - - - r.(?) - 22 Unknown - g.30064347A>G - - - NF2_000026 MSCV_0019847 - - ; clinvar; - - - -
./. c.912T>C p.(=) - - - - r.(=) - 22 Unknown - g.30064348T>C - - - NF2_000027 MSCV_0019848 - - ; clinvar; - - - -
./. c.932G>A p.(Arg311Lys) - - - - r.(?) - 22 Unknown - g.30064368G>A - - - NF2_000028 MSCV_0019849 - - ; clinvar; - - - -
./. c.947T>G p.(Leu316Trp) - - - - r.(?) - 22 Unknown - g.30064383T>G - - - NF2_000029 MSCV_0019850 - - ; clinvar; - - - -
+/+ c.958C>T p.(Gln320*) stop_gained - 10/16 - r.(?) - 22 Unknown subst g.30064394C>T - 5.700 - NF2_000003 MSCV_0000907 rs74315497 - ; clinvar; 7913580 - - -
./. c.958C>T p.(Gln320*) - - - - r.(?) - 22 Unknown - g.30064394C>T - - - NF2_000003 MSCV_0000907 - - ; clinvar; - - - -
./. c.966A>G p.(=) - - - - r.(=) - 22 Unknown - g.30064402A>G - - - NF2_000030 MSCV_0019852 - - ; clinvar; - - - -
./. c.968del p.(Gln324Argfs*22) - - - - r.(?) - 22 Unknown - g.30064404del - - - NF2_000031 MSCV_0019853 - - ; clinvar; - - - -
?/? c.970C>T p.(Gln324*) stop_gained - 10/16 - r.(?) - 22 Unknown subst g.30064406C>T - 5.700 - NF2_000015 MSCV_0002975 rs74315500 - ; 7913580 - - -
./. c.983A>T p.(Glu328Val) - - - - r.(?) - 22 Unknown - g.30064419A>T - - - NF2_000032 MSCV_0019854 - - ; clinvar; - - - -
./. c.1000-7C>G p.(=) - - - - r.(=) - 22 Unknown - g.30067808C>G - - - NF2_000033 MSCV_0019855 - - ; clinvar; - - - -
./. c.1000-4G>A p.? - - - - r.spl? - 22 Unknown - g.30067811G>A - - - NF2_000034 MSCV_0019856 - - ; clinvar; - - - -
./. c.1000A>G p.(Met334Val) - - - - r.(?) - 22 Unknown - g.30067815A>G - - - NF2_000035 MSCV_0019857 - - ; clinvar; - - - -
./. c.1012C>T p.(Arg338Cys) - - - - r.(?) - 22 Unknown - g.30067827C>T - - - NF2_000036 MSCV_0019858 - - ; clinvar; - - - -
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