Transcript #00014503

Transcript name transcript variant 1
Gene name NF2 (neurofibromin 2 (merlin))
Chromosome 22
Transcript - NCBI ID NM_000268.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000259.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

177 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+/+ _1 c.-648_-97del - r.? p.?
+/+ _1_1i c.(?_-443)_(114+1_115-1)del - r.(?) p.?
+/+ _1_17_ c.(?_-443)_(*60_?)del - r.(?) p.?
+/+ _1_17_ c.(?_-443)_(*60_?)del - r.(?) p.?
+/+ _1_17_ c.(?_-443)_(*60_?)del - r.(?) p.?
+/+ _1_17_ c.(?_-443)_(*60_?)del - r.(?) p.?
+?/. 1 c.41_42del - r.(?) p.(Leu14Glnfs*34)
+?/. 1 c.41_42del - r.(?) p.(Leu14Glnfs*34)
+/+ 1 c.41_42del - r.(?) p.(Leu14Glnfs*34)
+?/+ 1 c.52C>T - r.(?) p.(Gln18*)
+?/+ 1 c.52C>T - r.(?) p.(Gln18*)
+?/. 1 c.71dup - r.(?) p.(Arg25Glufs*24)
+?/. 1 c.71dup - r.(?) p.(Arg25Glufs*24)
+/+ 1 c.113del - r.(?) p.(Glu38Glyfs*2)
+/. - c.122G>A pathogenic r.(?) p.(Trp41*)
+?/. 2 c.130_133delinsCACACGGGCGGC - r.(?) p.(Lys44Hisfs*82)
?/. - c.137T>G VUS r.(?) p.(Leu46Arg)
+/. - c.152del pathogenic r.(?) p.(Cys51Serfs*72)
+/+ 2 c.160_166delinsGTGGGG - r.(?) p.(Leu54Valfs*69)
?/. - c.161T>C VUS r.(?) p.(Leu54Pro)
+?/. 2 c.161_168del - r.(?) p.(Leu54Profs*29)
+/+ 2 c.168_174delCCGAGAAinsGGCAC - r.(?) p.(Arg57Alafs*28)
+?/+ 2 c.169C>T - r.(?) p.(Arg57*)
+?/+ 2 c.169C>T - r.(?) p.(Arg57*)
+?/+ 2 c.169C>T - r.(?) p.(Arg57*)
+?/+ 2 c.169C>T - r.(?) p.(Arg57*)
+/. - c.169C>T pathogenic r.(?) p.(Arg57*)
+/+ 2 c.177del - r.(?) p.(Trp60Glyfs*63)
?/. - c.185T>C VUS r.(?) p.(Phe62Ser)
+?/. 2 c.193C>T - r.(?) p.(Gln65*)
+?/. 2 c.193C>T - r.(?) p.(Gln65*)
+/+ 2 c.198C>G - r.(?) p.(Tyr66*)
+/+ 2 c.223_232dup - r.(?) p.(Asp78Alafs*11)
+/. - c.240del pathogenic r.spl? p.?
?/. - c.240G>C VUS r.(?) p.(Lys80Asn)
+/+ 2i c.240+1G>A - r.spl? p.?
+/+ 2i c.240+1G>T - r.115_240del p.Met39_Lys80del
+/+ 2i c.240+1G>T - r.115_240del p.Met39_Lys80del
+/. - c.240+1G>T pathogenic r.spl? p.?
+/+ 2i_3i c.241-591_364-954del - r.(?) p.(Leu82_Val122del)
+/+ 2i_3 c.241-15_249del - r.spl? p.?
+?/. - c.241-9A>G likely pathogenic r.(=) p.(=)
+/. - c.241-1G>A pathogenic r.spl? p.?
+/. - c.241-1G>T pathogenic r.spl? p.?
+/+ 2i_17_ c.(240+1_241-1)_(*60_?)del - r.(?) p.?
+/. - c.265del pathogenic r.(?) p.(Glu89Lysfs*34)
+/. - c.269_270insCCAA pathogenic r.(?) p.(Glu90Aspfs*15)
+/. - c.303T>G pathogenic r.(?) p.(Tyr101*)
+/. - c.307G>T pathogenic r.(?) p.(Glu103*)
-?/. - c.325C>T likely benign r.(=) p.(=)
+/+ 3 c.343C>T - r.(?) p.(Gln115*)
+/. - c.343C>T pathogenic r.(?) p.(Gln115*)
+/+ 3 c.357_359del - r.(?) p.(Phe119del)
+/+ 3 c.361C>T - r.(?) p.(Gln121*)
-?/. - c.363+19C>A likely benign r.(=) p.(=)
+/+ 3i_4i c.363+434_447+3395del - r.(?) p.(Val122_Lys149del)
+/+ 3i_4i c.364-103_447+2431del - r.(?) p.(Val122_Lys149del)
+/. - c.364-2A>G pathogenic r.spl? p.?
+/+ 4 c.373C>T - r.(?) p.(Gln125*)
+/. - c.406G>T pathogenic r.(?) p.(Glu136*)
+?/. - c.422T>C likely pathogenic r.(?) p.(Leu141Pro)
+?/. - c.422T>C likely pathogenic r.(?) p.(Leu141Pro)
+/. 4 c.428_430del - r.(?) p.(Ser143del)
+/. - c.436_439del pathogenic r.(?) p.(Val146Argfs*27)
?/? 4i c.448-26G>A - r.spl? p.?
+?/. 5 c.448-2A>G - r.spl? p.?
+?/. 5 c.448-2A>G - r.spl? p.?
+?/. 5 c.459C>A - r.(?) p.(Tyr153*)
+?/. 5 c.459C>A - r.(?) p.(Tyr153*)
+/. - c.459delinsTG pathogenic r.(?) p.(Asp154Glyfs*49)
+?/. 5 c.464C>T - r.(?) p.(Pro155Leu)
+/. - c.480_486del pathogenic r.(?) p.(Gly161Trpfs*11)
+/+ 5 c.490del - r.(?) p.(Ala164Profs*10)
+/+ 5 c.493C>T - r.(?) p.(Gln165*)
+/+ 5i c.516+2T>C - r.spl? p.?
+/. 5i c.516+232G>A - r.516_517ins516+250_516+355 p.Val173Metfs32*
+?/. 6 c.532C>T - r.(?) p.(Gln178*)
+/+ 6 c.532C>T - r.(?) p.(Gln178*)
?/. - c.548T>C VUS r.(?) p.(Met183Thr)
+/. - c.561_562del pathogenic r.(?) p.(Arg187Serfs*15)
+/+ 6 c.568dup - r.(?) p.(Ala190Glyfs*13)
+/+ 6 c.586C>T - r.586c>u p.Arg196*
+?/. 6 c.586C>T - r.(?) p.(Arg196*)
+?/. 6 c.586C>T - r.(?) p.(Arg196*)
+/+ 6 c.586C>T - r.586c>u p.Arg196*
+/. - c.586C>T pathogenic r.(?) p.(Arg196*)
+/+ 6 c.592C>T - r.592c>u p.Arg198*
+/+ 6 c.592C>T - r.592c>u p.Arg198*
+/+ 6 c.592C>T - r.592c>u p.Arg198*
+/+ 6 c.592C>T - r.592c>u p.Arg198*
+?/. 6 c.592C>T - r.(?) p.(Arg198*)
+?/. 6 c.592C>T - r.(?) p.(Arg198*)
+?/. 6 c.592C>T - r.(?) p.(Arg198*)
+?/. 6 c.592C>T - r.(?) p.(Arg198*)
+/. - c.592C>T pathogenic r.(?) p.(Arg198*)
+/+ 6i_10i c.600-755_1000-1658dup - r.? p.?
+/+ 6i_17_ c.(599+1_600-1)_(*60_?)del - r.(?) p.?
?/? 7 c.613A>G - r.613a>g p.Met205Val
+/+ 7 c.650_654del - r.(?) p.(Tyr217Cysfs*9)
+/. - c.663C>G pathogenic r.(?) p.(Tyr221*)
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