All transcript variants in gene NF2

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

177 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/+ _1 c.-648_-97del - r.? p.? g.29999340_29999891del g.29603351_29603902del - - NF2_000070 - - - - Unknown - - - 0 - Beatrice Parfait
+/+ _1_1i c.(?_-443)_(114+1_115-1)del - r.(?) p.? g.(?_29999545)_(30000102_30032739)del - - - NF2_000071 - - - - Unknown - - - 0 - Beatrice Parfait
+/+ _1_17_ c.(?_-443)_(*60_?)del - r.(?) p.? g.(?_29999545)_(30090851_?)del - - - NF2_000072 - - - - Unknown - - - 0 - Beatrice Parfait
+/+ _1_17_ c.(?_-443)_(*60_?)del - r.(?) p.? g.(?_29999545)_(30090851_?)del - - - NF2_000072 - - - - Unknown - - - 0 - Beatrice Parfait
+/+ _1_17_ c.(?_-443)_(*60_?)del - r.(?) p.? g.(?_29999545)_(30090851_?)del - - - NF2_000072 - - - - Unknown - - - 0 - Beatrice Parfait
+/+ _1_17_ c.(?_-443)_(*60_?)del - r.(?) p.? g.(?_29999545)_(30090851_?)del - - - NF2_000072 - - - - Unknown - - - 0 - Beatrice Parfait
+?/. 1 c.41_42del - r.(?) p.(Leu14Glnfs*34) g.30000028_30000029del g.29604039_29604040del - - NF2_000005 sporadic PubMed: Contini 2015, Journal: Contini 2015 - - Somatic - 0.19 reads - 0 - Laura Papi
+/+ 1 c.41_42del - r.(?) p.(Leu14Glnfs*34) g.30000028_30000029del g.29604039_29604040del - - NF2_000005 TC> tandem repeat PubMed: Ahronowitz 2007 - - Unknown - - - 0 - Beatrice Parfait
+?/. 1 c.41_42del - r.(?) p.(Leu14Glnfs*34) g.30000028_30000029del g.29604039_29604040del - - NF2_000005 - PubMed: Evans DG et al 1998 - - Unknown - - - 0 - Laura Papi
+?/+ 1 c.52C>T - r.(?) p.(Gln18*) g.30000039C>T g.29604050C>T - - NF2_000004 sporadic PubMed: Contini 2015, Journal: Contini 2015 - - Germline - 0.54 reads - 0 - Laura Papi
+?/+ 1 c.52C>T - r.(?) p.(Gln18*) g.30000039C>T g.29604050C>T - - NF2_000004 - PubMed: Ruttledge MH et al 1996 - - Unknown - - - 0 - Laura Papi
+?/. 1 c.71dup - r.(?) p.(Arg25Glufs*24) g.30000058dup g.29604069dup - - NF2_000018 - - - - Somatic - - - - - Laura Papi
+?/. 1 c.71dup - r.(?) p.(Arg25Glufs*24) g.30000058dup g.29604069dup - - NF2_000018 - Jacoby LB 1996; Wellenreuther R 1995 - - Unknown - - - 0 - Laura Papi
+/+ 1 c.113del - r.(?) p.(Glu38Glyfs*2) g.30000100del g.29604111del - - NF2_000073 - - - - Unknown - - - 0 - Beatrice Parfait
+/. - c.122G>A pathogenic r.(?) p.(Trp41*) g.30032747G>A - NF2:c.122G>A (W41*) - NF2_000077 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. 2 c.130_133delinsCACACGGGCGGC - r.(?) p.(Lys44Hisfs*82) g.30032755_30032758delinsCACACGGGCGGC g.29636766_29636769delinsCACACGGGCGGC - - NF2_000011 - PubMed: Contini 2015, Journal: Contini 2015 - - Somatic - 0.145 reads - - - Laura Papi
?/. - c.137T>G VUS r.(?) p.(Leu46Arg) g.30032762T>G - NF2:c.137T>G (L46R) - NF2_000078 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.152del pathogenic r.(?) p.(Cys51Serfs*72) g.30032777del - NF2:c.152delG (C51Sfs*72) - NF2_000079 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 2 c.160_166delinsGTGGGG - r.(?) p.(Leu54Valfs*69) g.30032785_30032791delinsGTGGGG g.29636796_29636802delinsGTGGGG - - NF2_000074 - - - - Unknown - - - 0 - Beatrice Parfait
?/. - c.161T>C VUS r.(?) p.(Leu54Pro) g.30032786T>C - NF2:c.161T>C (L54P) - NF2_000080 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. 2 c.161_168del - r.(?) p.(Leu54Profs*29) g.30032786_30032793del g.29636797_29636804del - - NF2_000012 - - - - Somatic - - - - - Laura Papi
+/+ 2 c.168_174delCCGAGAAinsGGCAC - r.(?) p.(Arg57Alafs*28) g.30032793_30032799delinsGGCAC g.29636804_29636810delinsGGCAC - - NF2_000019 Mosaic - - - De novo - - - 0 - Beatrice Parfait
+?/+ 2 c.169C>T - r.(?) p.(Arg57*) g.30032794C>T g.29636805C>T - - NF2_000003 - PubMed: Contini 2015, Journal: Contini 2015 - - Somatic - 0.075 reads - 0 - Laura Papi
+?/+ 2 c.169C>T - r.(?) p.(Arg57*) g.30032794C>T g.29636805C>T - - NF2_000003 - - - - Somatic - - - 0 - Laura Papi
+?/+ 2 c.169C>T - r.(?) p.(Arg57*) g.30032794C>T g.29636805C>T - - NF2_000003 - Rouleau GA 1993; Jacoby LB 1994; Bourn D 1994; Merel P 1995; Parry DM 1996; Jacoby LB et al. 1999; Chen HJ 1998; Harada H 1999; Sestini R 2000; Kluwe L 2003; Evans DG 2005 - - Unknown - - - 0 - Laura Papi
+?/+ 2 c.169C>T - r.(?) p.(Arg57*) g.30032794C>T g.29636805C>T - - NF2_000003 - Rouleau GA 1993; Jacoby LB 1994; Bourn D 1994; Merel P 1995; Parry DM 1996; Jacoby LB et al. 1999; Chen HJ 1998; Harada H 1999; Sestini R 2000; Kluwe L 2003; Evans DG 2005 - - Unknown - - - 0 - Laura Papi
+/. - c.169C>T pathogenic r.(?) p.(Arg57*) g.30032794C>T - NF2:c.169C>T (R57*) - NF2_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 2 c.177del - r.(?) p.(Trp60Glyfs*63) g.30032802del g.29636813del - - NF2_000020 - - - - Unknown - - - 0 - Beatrice Parfait
?/. - c.185T>C VUS r.(?) p.(Phe62Ser) g.30032810T>C - NF2:c.185T>C (F62S) - NF2_000081 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. 2 c.193C>T - r.(?) p.(Gln65*) g.30032818C>T g.29636829C>T - - NF2_000013 - PubMed: Contini 2015, Journal: Contini 2015 - - Somatic - 0.02 reads - - - Laura Papi
+?/. 2 c.193C>T - r.(?) p.(Gln65*) g.30032818C>T g.29636829C>T - - NF2_000013 - Wallace AJ 2004; Kluwe L 2002 - - Unknown - - - 0 - Laura Papi
+/+ 2 c.198C>G - r.(?) p.(Tyr66*) g.30032823C>G g.29636834C>G - - NF2_000021 - - - - Unknown - - - 0 - Beatrice Parfait
+/+ 2 c.223_232dup - r.(?) p.(Asp78Alafs*11) g.30032848_30032857dup g.29636859_29636868dup - - NF2_000022 Mosaic - - - De novo - - - 0 - Beatrice Parfait
+/. - c.240del pathogenic r.spl? p.? g.30032865del - NF2:c.240delG (V81Yfs*42) - NF2_000082 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.240G>C VUS r.(?) p.(Lys80Asn) g.30032865G>C - NF2:c.240G>C (K80N) - NF2_000083 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 2i c.240+1G>A - r.spl? p.? g.30032866G>A g.29636877G>A - - NF2_000023 - - - - Unknown - - - 0 - Beatrice Parfait
+/+ 2i c.240+1G>T - r.115_240del p.Met39_Lys80del g.30032866G>T g.29636877G>T - - NF2_000024 - PubMed: Rouleau 1993, PubMed: Twist 1994 - - Unknown - - - 0 - Beatrice Parfait
+/+ 2i c.240+1G>T - r.115_240del p.Met39_Lys80del g.30032866G>T g.29636877G>T - - NF2_000024 - PubMed: Rouleau 1993, PubMed: Twist 1994 - - Unknown - - - 0 - Beatrice Parfait
+/. - c.240+1G>T pathogenic r.spl? p.? g.30032866G>T - NF2:c.240+1G>T - NF2_000024 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 2i_3i c.241-591_364-954del - r.(?) p.(Leu82_Val122del) g.30034488_30037237del g.29638499_29641248del - - NF2_000025 - - - - Unknown - - - 0 - Beatrice Parfait
+/+ 2i_3 c.241-15_249del - r.spl? p.? g.30035064_30035087del g.29639075_29639098del - - NF2_000026 - - - - Unknown - - - 0 - Beatrice Parfait
+?/. - c.241-9A>G likely pathogenic r.(=) p.(=) g.30035070A>G - NF2:c.241-9A>G - NF2_000084 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.241-1G>A pathogenic r.spl? p.? g.30035078G>A - NF2:c.241-1G>A - NF2_000085 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.241-1G>T pathogenic r.spl? p.? g.30035078G>T - NF2:c.241-1G>T - NF2_000086 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 2i_17_ c.(240+1_241-1)_(*60_?)del - r.(?) p.? g.(30032866_30035078)_(30090851_?)del - - - NF2_000027 - - - - Unknown - - - 0 - Beatrice Parfait
+/. - c.265del pathogenic r.(?) p.(Glu89Lysfs*34) g.30035103del - NF2:c.265delG (E89Kfs*34) - NF2_000087 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.269_270insCCAA pathogenic r.(?) p.(Glu90Aspfs*15) g.30035107_30035108insCCAA - NF2:c.270_273dupACCA (V92Tfs*13) - NF2_000088 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.303T>G pathogenic r.(?) p.(Tyr101*) g.30035141T>G - NF2:c.303T>G (Y101*) - NF2_000089 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.307G>T pathogenic r.(?) p.(Glu103*) g.30035145G>T - NF2:c.307G>T (E103*) - NF2_000090 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.325C>T likely benign r.(=) p.(=) g.30035163C>T - NF2:c.325C>T (=) - NF2_000091 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 3 c.343C>T - r.(?) p.(Gln115*) g.30035181C>T g.29639192C>T - - NF2_000028 Mosaic PubMed: Wallace 2004 - - De novo - - - 0 - Beatrice Parfait
+/. - c.343C>T pathogenic r.(?) p.(Gln115*) g.30035181C>T - NF2:c.343C>T (Q115*) - NF2_000028 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/+ 3 c.357_359del - r.(?) p.(Phe119del) g.30035195_30035197del g.29639206_29639208del - - NF2_000029 - PubMed: Ahronowitz 2007 - - Unknown - - - 0 - Beatrice Parfait
+/+ 3 c.361C>T - r.(?) p.(Gln121*) g.30035199C>T g.29639210C>T - - NF2_000030 Mosaic PubMed: Irving 1997 - - De novo - - - 0 - Beatrice Parfait
-?/. - c.363+19C>A likely benign r.(=) p.(=) g.30035220C>A - NF2:c.363+19C>A - NF2_000092 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/+ 3i_4i c.363+434_447+3395del - r.(?) p.(Val122_Lys149del) g.30035635_30041669del g.29639646_29645680del - - NF2_000031 Mosaic - - - De novo - - - 0 - Beatrice Parfait
+/+ 3i_4i c.364-103_447+2431del - r.(?) p.(Val122_Lys149del) g.30038088_30040705del g.29642099_29644716del - - NF2_000032 Mosaic - - - De novo - - - 0 - Beatrice Parfait
+/. - c.364-2A>G pathogenic r.spl? p.? g.30038189A>G - NF2:c.364-2A>G - NF2_000093 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 4 c.373C>T - r.(?) p.(Gln125*) g.30038200C>T g.29642211C>T - - NF2_000033 - - - - Unknown - - - 0 - Beatrice Parfait
+/. - c.406G>T pathogenic r.(?) p.(Glu136*) g.30038233G>T - NF2:c.406G>T (E136*) - NF2_000094 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.422T>C likely pathogenic r.(?) p.(Leu141Pro) g.30038249T>C - NF2:c.422T>C (L141P) - NF2_000095 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.422T>C likely pathogenic r.(?) p.(Leu141Pro) g.30038249T>C - NF2:NM_000268.3:c.422T>C (Leu141Pro) - NF2_000095 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 4 c.428_430del - r.(?) p.(Ser143del) g.30038255_30038257del g.29642266_29642268del 428_430delCTT - NF2_000075 - PubMed: DiFrancesco 2014, Journal: DiFrancesco 2014 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.436_439del pathogenic r.(?) p.(Val146Argfs*27) g.30038263_30038266del - NF2:c.436_439delGTCC (V146Rfs*27) - NF2_000096 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/? 4i c.448-26G>A - r.spl? p.? g.30050620G>A g.29654631G>A - - NF2_000034 - - - - Unknown - - - 0 - Beatrice Parfait
+?/. 5 c.448-2A>G - r.spl? p.? g.30050644A>G g.29654655A>G - - NF2_000014 - PubMed: Contini 2015, Journal: Contini 2015 - - Germline - 0.60 reads - - - Laura Papi
+?/. 5 c.448-2A>G - r.spl? p.? g.30050644A>G g.29654655A>G - - NF2_000014 - Rouleau GA eta l., 1993; MacCollin M 1994; Kluwe L 1998; Evans DG 1998; Evans 2005; Mautner VF 2002 - - Unknown - - - 0 - Laura Papi
+?/. 5 c.459C>A - r.(?) p.(Tyr153*) g.30050657C>A g.29654668C>A - - NF2_000006 - PubMed: Contini 2015, Journal: Contini 2015 - - Somatic - 0.024 reads - 0 - Laura Papi
+?/. 5 c.459C>A - r.(?) p.(Tyr153*) g.30050657C>A g.29654668C>A - - NF2_000006 - PubMed: Hung G et al 2000; PubMed: Wallace AJ et al 2004 - - Unknown - - - 0 - Laura Papi
+/. - c.459delinsTG pathogenic r.(?) p.(Asp154Glyfs*49) g.30050657delinsTG - NF2:c.459delCinsTG (D154Gfs*49) - NF2_000097 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. 5 c.464C>T - r.(?) p.(Pro155Leu) g.30050662C>T g.29654673C>T - - NF2_000007 - - - - Somatic yes - - 0 - Laura Papi
+/. - c.480_486del pathogenic r.(?) p.(Gly161Trpfs*11) g.30050678_30050684del - NF2:c.480_486delGGGATTT (G161Wfs*11) - NF2_000098 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 5 c.490del - r.(?) p.(Ala164Profs*10) g.30050688del g.29654699del - - NF2_000035 Mosaic - - - De novo - - - 0 - Beatrice Parfait
+/+ 5 c.493C>T - r.(?) p.(Gln165*) g.30050691C>T g.29654702C>T - - NF2_000036 Mosaic - - - De novo - - - 0 - Beatrice Parfait
+/+ 5i c.516+2T>C - r.spl? p.? g.30050716T>C g.29654727T>C - - NF2_000037 - PubMed: Wallace 2004 - - Unknown - - - 0 - Beatrice Parfait
+/. 5i c.516+232G>A - r.516_517ins516+250_516+355 p.Val173Metfs32* g.30050946G>A g.29654957G>A - - NF2_000076 variant hypothesized to create a branchpoint activating a cryptic exon PubMed: de Klein 1998 - - Germline yes - BfaI-;MaeII+ 0 - Johan den Dunnen
+?/. 6 c.532C>T - r.(?) p.(Gln178*) g.30051598C>T g.29655609C>T - - NF2_000008 - PubMed: Contini 2015, Journal: Contini 2015 - - Somatic - 0.29 reads - 0 - Laura Papi
+/+ 6 c.532C>T - r.(?) p.(Gln178*) g.30051598C>T g.29655609C>T - - NF2_000008 - - - - Unknown - - - 0 - Beatrice Parfait
?/. - c.548T>C VUS r.(?) p.(Met183Thr) g.30051614T>C - NF2:c.548T>C (M183T) - NF2_000099 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.561_562del pathogenic r.(?) p.(Arg187Serfs*15) g.30051627_30051628del - NF2:c.561_562delAA (R187Sfs*15) - NF2_000100 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 6 c.568dup - r.(?) p.(Ala190Glyfs*13) g.30051634dup g.29655645dup - - NF2_000038 - - - - Unknown - - - 0 - Beatrice Parfait
+?/. 6 c.586C>T - r.(?) p.(Arg196*) g.30051652C>T g.29655663C>T - - NF2_000015 - PubMed: Contini 2015, Journal: Contini 2015 - - Somatic - 0.0195 reads - - - Laura Papi
+/+ 6 c.586C>T - r.586c>u p.Arg196* g.30051652C>T g.29655663C>T - - NF2_000015 CpG dinucleotide ; Mosaic PubMed: Ahronowitz 2007 - - De novo - - - 0 - Beatrice Parfait
+/+ 6 c.586C>T - r.586c>u p.Arg196* g.30051652C>T g.29655663C>T - - NF2_000015 CpG dinucleotide PubMed: Ahronowitz 2007 - - Unknown - - - 0 - Beatrice Parfait
+?/. 6 c.586C>T - r.(?) p.(Arg196*) g.30051652C>T g.29655663C>T - - NF2_000015 - Bourn D 1995; MacCollin M 1996; Evans DG 1998; Kluwe L 1998; Kluwe L 2000; Lamszus K 2000; Hagel C 2002; Kluwe L 2003;Wallace AJ 2004 - - Unknown - - - 0 - Laura Papi
+/. - c.586C>T pathogenic r.(?) p.(Arg196*) g.30051652C>T - NF2:c.586C>T (R196*) - NF2_000015 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. 6 c.592C>T - r.(?) p.(Arg198*) g.30051658C>T g.29655669C>T - - NF2_000016 - PubMed: Contini 2015, Journal: Contini 2015 - - Somatic - 0.037 reads - - - Laura Papi
+?/. 6 c.592C>T - r.(?) p.(Arg198*) g.30051658C>T g.29655669C>T - - NF2_000016 - - - - Somatic - - - - - Laura Papi
+/+ 6 c.592C>T - r.592c>u p.Arg198* g.30051658C>T g.29655669C>T - - NF2_000016 CpG dinucleotide ; Mosaic PubMed: Ahronowitz 2007 - - De novo - - - 0 - Beatrice Parfait
+/+ 6 c.592C>T - r.592c>u p.Arg198* g.30051658C>T g.29655669C>T - - NF2_000016 CpG dinucleotide ; Mosaic PubMed: Ahronowitz 2007 - - De novo - - - 0 - Beatrice Parfait
+/+ 6 c.592C>T - r.592c>u p.Arg198* g.30051658C>T g.29655669C>T - - NF2_000016 CpG dinucleotide ; Mosaic PubMed: Ahronowitz 2007 - - De novo - - - 0 - Beatrice Parfait
+/+ 6 c.592C>T - r.592c>u p.Arg198* g.30051658C>T g.29655669C>T - - NF2_000016 CpG dinucleotide ; Mosaic PubMed: Ahronowitz 2007 - - De novo - - - 0 - Beatrice Parfait
+?/. 6 c.592C>T - r.(?) p.(Arg198*) g.30051658C>T g.29655669C>T - - NF2_000016 - Evans DG 1998; Kluwe L 2000; Wallace AJ 2004; Evans DG 2005 - - Unknown - - - 0 - Laura Papi
+?/. 6 c.592C>T - r.(?) p.(Arg198*) g.30051658C>T g.29655669C>T - - NF2_000016 - Evans DG 1998; Kluwe L 2000; Wallace AJ 2004; Evans DG 2005 - - Unknown - - - 0 - Laura Papi
+/. - c.592C>T pathogenic r.(?) p.(Arg198*) g.30051658C>T - NF2:c.592C>T (R198*) - NF2_000016 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 6i_10i c.600-755_1000-1658dup - r.? p.? g.30053423_30066157dup g.29657434_29670168dup p.(Met334fs) - NF2_000039 - - - - Unknown - - - 0 - Beatrice Parfait
+/+ 6i_17_ c.(599+1_600-1)_(*60_?)del - r.(?) p.? g.(30051666_30054177)_(30090851_?)del - - - NF2_000040 - - - - Unknown - - - 0 - Beatrice Parfait
?/? 7 c.613A>G - r.613a>g p.Met205Val g.30054191A>G g.29658202A>G - - NF2_000041 - PubMed: Evans 2005 - - Unknown - - - 0 - Beatrice Parfait
+/+ 7 c.650_654del - r.(?) p.(Tyr217Cysfs*9) g.30054228_30054232del g.29658239_29658243del - - NF2_000042 Mosaic - - - De novo - - - 0 - Beatrice Parfait
+/. - c.663C>G pathogenic r.(?) p.(Tyr221*) g.30054241C>G - NF2:c.663C>G (Y221*) - NF2_000101 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
Legend   « First ‹ Prev     1 2     Next › Last »