Full data view for gene NF2

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

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ _1 c.-648_-97del r.? p.? Unknown - pathogenic g.29999340_29999891del g.29603351_29603902del - - NF2_000070 - - - - Unknown - - - - - DNA SEQ-NG blood - NF2 - - - - - - - - - - - 1 Beatrice Parfait
+/+ _1_1i c.-443_(114+1_115-1){0} r.(?) p.? Unknown - pathogenic g.(?_29999545)_(30000102_30032739)del - - - NF2_000071 - - - - Unknown - - - - - DNA SEQ-NG blood - NF2 - - - - - - - - - - - 1 Beatrice Parfait
+/+ _1_17_ c.-443_(*60_?){0} r.(?) p.? Unknown - pathogenic g.(?_29999545)_(30090851_?)del - - - NF2_000072 - - - - Unknown - - - - - DNA SEQ-NG blood - NF2 - - - - - - - - - - - 1 Beatrice Parfait
+/+ _1_17_ c.-443_(*60_?){0} r.(?) p.? Unknown - pathogenic g.(?_29999545)_(30090851_?)del - - - NF2_000072 - - - - Unknown - - - - - DNA SEQ-NG blood - NF2 - - - - - - - - - - - 1 Beatrice Parfait
+/+ _1_17_ c.-443_(*60_?){0} r.(?) p.? Unknown - pathogenic g.(?_29999545)_(30090851_?)del - - - NF2_000072 - - - - Unknown - - - - - DNA SEQ-NG blood - NF2 - - - - - - - - - - - 1 Beatrice Parfait
+/+ _1_17_ c.-443_(*60_?){0} r.(?) p.? Unknown - pathogenic g.(?_29999545)_(30090851_?)del - - - NF2_000072 - - - - Unknown - - - - - DNA SEQ-NG blood - NF2 - - - - - - - - - - - 1 Beatrice Parfait
+/. _1_14i c.-443_(1473_?){0} r.0? p.0? Unknown - pathogenic g.(?_29951726)_(30074211_?)del - c.1_491del - NF2_000169 deletion extends from the exon 10 of NIPSNAP1 gene (g.29951726) to exon 14 of the NF2 gene (g.30074211). - - - Germline/De novo (untested) - - - - - DNA MLPA blood MLPA_P044_Resnova NF2 NF2_246 - - F - Italy African >18y - - - 1 Marica Eoli
+/. _1_16_ c.-443_*3798{0} r.0 p.0 Parent #1 - pathogenic g.(?_29951726)_(30125105_?)del - c.1_596del - NF2_000171 deletion extends from the exon 10 of NIPSNAP1 gene (g.29951726) to exon 4 of CABP7 gene (g.30125105). - - - Germline - - - - - DNA MLPA blood - NF2 NF2_366 - - M - Italy - >42y - - - 1 Marica Eoli
+/. _1_16_ c.-443_*3798{0} r.0 p.0 Unknown - pathogenic g.(?_29951726)_(30125105_?)del - c.1_596del - NF2_000171 deletion extends from the exon 10 of NIPSNAP1 gene (g.29951726) to exon 4 of CABP7 gene (g.30125105). - - - Germline - - - - - DNA MLPA blood - NF2 NF2_160 - - M - Italy - >23y - - - 1 Marica Eoli
+?/. 1 c.41_42del r.(?) p.(Leu14Glnfs*34) Unknown - likely pathogenic g.30000028_30000029del g.29604039_29604040del - - NF2_000005 sporadic PubMed: Contini 2015, Journal: Contini 2015 - - Somatic - 0.19 reads - - - DNA SEQ-NG-I blood - NF2 - PubMed: Contini 2015, Journal: Contini 2015 - M - Italy white - - - - 1 Laura Papi
+/+ 1 c.41_42del r.(?) p.(Leu14Glnfs*34) Unknown - pathogenic g.30000028_30000029del g.29604039_29604040del - - NF2_000005 TC> tandem repeat PubMed: Ahronowitz 2007 - - Unknown - - - - - DNA SEQ-NG blood - NF2 - PubMed: Ahronowitz 2007 TC> tandem repeat - - - - - - - - 1 Beatrice Parfait
+?/. 1 c.41_42del r.(?) p.(Leu14Glnfs*34) Unknown - likely pathogenic g.30000028_30000029del g.29604039_29604040del - - NF2_000005 - PubMed: Evans DG et al 1998 - - Unknown - - - - - DNA SEQ - - NF2 - PubMed: Evans DG et al 1998 - - - - - - - - - 1 Laura Papi
+?/+ 1 c.52C>T r.(?) p.(Gln18*) Unknown - likely pathogenic g.30000039C>T g.29604050C>T - - NF2_000004 sporadic PubMed: Contini 2015, Journal: Contini 2015 - - Germline - 0.54 reads - - - DNA SEQ-NG-I blood - NF2 - PubMed: Contini 2015, Journal: Contini 2015 - M - - white - - - - 1 Laura Papi
+?/+ 1 c.52C>T r.(?) p.(Gln18*) Unknown - likely pathogenic g.30000039C>T g.29604050C>T - - NF2_000004 - PubMed: Ruttledge MH et al 1996 - - Unknown - - - - - DNA SEQ - - NF2 - PubMed: Ruttledge MH et al 1996 - - - - - - - - - 1 Laura Papi
+?/. 1 c.71dup r.(?) p.(Arg25Glufs*24) Unknown - likely pathogenic g.30000058dup g.29604069dup - - NF2_000018 - - - - Somatic - - - - - DNA SEQ blood - NF2 - PubMed: Contini 2015, Journal: Contini 2015 - - - - - - - - - 1 Laura Papi
+?/. 1 c.71dup r.(?) p.(Arg25Glufs*24) Unknown - likely pathogenic g.30000058dup g.29604069dup - - NF2_000018 - Jacoby LB 1996; Wellenreuther R 1995 - - Unknown - - - - - DNA SEQ - - NF2 - Jacoby LB 1996; Wellenreuther R 1995 - - - - - - - - - 1 Laura Papi
+/. - c.80del r.(?) p.(Val27Alafs*13) Unknown - pathogenic g.30000067del - - - NF2_000149 evidence of possible 0.20 mosaicismvariant allele in Sanger sequencing - - - Unknown - - - - - DNA SEQ - - NF2 - - - - - - - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
?/. 1 c.113A>C r.(?) p.(Glu38Ala) Unknown ACGS VUS g.30000100A>C g.29604111A>C - - NF2_000154 Identified by UAB Medical Genomics Laboratory Sadler et al 2022 (submitted) - - Germline - - - - - DNA SEQ Blood - NF2 - Sadler et al 2022 (submitted) - F - United States - - - - - 1 Miriam Smith
+/+ 1 c.113del r.(?) p.(Glu38Glyfs*2) Unknown - pathogenic g.30000100del g.29604111del - - NF2_000073 - - - - Unknown - - - - - DNA SEQ-NG blood - NF2 - - - - - - - - - - - 1 Beatrice Parfait
+/. - c.122G>A r.(?) p.(Trp41Ter) Unknown - pathogenic g.30032747G>A g.29636758G>A NF2(NM_000268.3):c.122G>A (p.W41*) - NF2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.130_133delinsCACACGGGCGGC r.(?) p.(Lys44Hisfs*82) Unknown - likely pathogenic g.30032755_30032758delinsCACACGGGCGGC g.29636766_29636769delinsCACACGGGCGGC - - NF2_000011 - PubMed: Contini 2015, Journal: Contini 2015 - - Somatic - 0.145 reads - - - DNA SEQ-NG-I blood - NF2 - PubMed: Contini 2015, Journal: Contini 2015 - F - Italy - - - - - 1 Laura Papi
?/. 2 c.137T>A r.(?) p.(Leu46His) Unknown ACGS VUS g.30032762T>A g.29636773T>A - - NF2_000158 Identified by the NW Genomic Laboratory Hub, Manchester Centre for Genomic Medicine Sadler et al. 2022 (submitted) - - Germline - - - - - DNA SEQ Blood - NF2 - Sadler et al. 2022 (submitted) Iedntified by the NW Genomic Laboratory Hub, Manchester Centre for Genomic Medicine F - - - - - - - 4 Miriam Smith
?/. - c.137T>G r.(?) p.(Leu46Arg) Unknown - VUS g.30032762T>G g.29636773T>G NF2(NM_000268.3):c.137T>G (p.L46R) - NF2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.152del r.(?) p.(Cys51SerfsTer72) Unknown - pathogenic g.30032777del g.29636788del NF2(NM_000268.3):c.152delG (p.C51Sfs*72) - NF2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.160_166delinsGTGGGG r.(?) p.(Leu54Valfs*69) Unknown - pathogenic g.30032785_30032791delinsGTGGGG g.29636796_29636802delinsGTGGGG - - NF2_000074 - - - - Unknown - - - - - DNA SEQ-NG blood - NF2 - - - - - - - - - - - 1 Beatrice Parfait
?/. - c.161T>C r.(?) p.(Leu54Pro) Unknown - VUS g.30032786T>C g.29636797T>C NF2(NM_000268.3):c.161T>C (p.L54P) - NF2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.161T>C r.(?) p.(Leu54Pro) Unknown - likely pathogenic g.30032786T>C g.29636797T>C NF2(NM_000268.3):c.161T>C (p.L54P) - NF2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.161_168del r.(?) p.(Leu54Profs*29) Unknown - likely pathogenic g.30032786_30032793del g.29636797_29636804del - - NF2_000012 - - - - Somatic - - - - - DNA SEQ blood - NF2 - PubMed: Contini 2015, Journal: Contini 2015 - F - Italy - - - - - 1 Laura Papi
+/+ 2 c.168_174delinsGGCAC r.(?) p.(Arg57Alafs*28) Parent #1 - pathogenic g.30032793_30032799delinsGGCAC g.29636804_29636810delinsGGCAC - - NF2_000019 Mosaic - - - De novo - - - - - DNA SEQ-NG blood, tumour - NF2 - - Mosaic - - - - - - - - 1 Beatrice Parfait
+?/+ 2 c.169C>T r.(?) p.(Arg57*) Unknown - likely pathogenic g.30032794C>T g.29636805C>T - - NF2_000003 - PubMed: Contini 2015, Journal: Contini 2015 - - Somatic - 0.075 reads - - - DNA SEQ-NG-I blood - NF2 - PubMed: Contini 2015, Journal: Contini 2015 - - - - - - - - - 1 Laura Papi
+?/+ 2 c.169C>T r.(?) p.(Arg57*) Unknown - likely pathogenic g.30032794C>T g.29636805C>T - - NF2_000003 - - - - Somatic - - - - - DNA SEQ blood - NF2 - PubMed: Contini 2015, Journal: Contini 2015 - F - - - - - - - 1 Laura Papi
+?/+ 2 c.169C>T r.(?) p.(Arg57*) Unknown - likely pathogenic 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 - - - - - DNA SEQ - - NF2 - Rouleau GA 1993; Jacoby LB 1994; Bourn D 1994; Merel P 1995; Parry DM 1996; Jacoby LB 1999; Chen HJ 1998; Harada H 1999; Sestini R 2000; Kluwe L 2003; Evans DG 2005 - - - - - - - - - 1 Laura Papi
+?/+ 2 c.169C>T r.(?) p.(Arg57*) Unknown - likely pathogenic 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 - - - - - DNA SEQ - - NF2 - Rouleau GA 1993; Jacoby LB 1994; Bourn D 1994; Merel P 1995; Parry DM 1996; Jacoby LB 1999; Chen HJ 1998; Harada H 1999; Sestini R 2000; Kluwe L 2003; Evans DG 2005 - - - - - - - - - 1 Laura Papi
+/. - c.169C>T r.(?) p.(Arg57Ter) Unknown - pathogenic g.30032794C>T g.29636805C>T NF2(NM_000268.3):c.169C>T (p.R57*) - NF2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.169C>T r.(?) p.(Arg57Ter) Unknown - pathogenic g.30032794C>T g.29636805C>T NF2(NM_000268.3):c.169C>T (p.R57*) - NF2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.177del r.(?) p.(Trp60Glyfs*63) Unknown - pathogenic g.30032802del g.29636813del - - NF2_000020 - - - - Unknown - - - - - DNA SEQ-NG blood - NF2 - - - - - - - - - - - 1 Beatrice Parfait
?/. - c.185T>C r.(?) p.(Phe62Ser) Unknown - VUS g.30032810T>C g.29636821T>C NF2(NM_000268.3):c.185T>C (p.F62S) - NF2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.191T>G r.(?) p.(Leu64Arg) Unknown ACGS VUS g.30032816T>G g.29636827T>G - - NF2_000155 Identified by UAB Medical Genomics Laboratory Sadler et al 2022 (submitted) - - Germline - - - - - DNA SEQ Blood - NF2 - Sadler et al 2022 (submitted) Identified by UAB Medical Genomics Laboratory M - United States - - - - - 2 Miriam Smith
+?/. 2 c.193C>T r.(?) p.(Gln65*) Unknown - likely pathogenic g.30032818C>T g.29636829C>T - - NF2_000013 - PubMed: Contini 2015, Journal: Contini 2015 - - Somatic - 0.02 reads - - - DNA SEQ-NG-I blood - NF2 - PubMed: Contini 2015, Journal: Contini 2015 - F - - - - - - - 1 Laura Papi
+?/. 2 c.193C>T r.(?) p.(Gln65*) Unknown - likely pathogenic g.30032818C>T g.29636829C>T - - NF2_000013 - Wallace AJ 2004; Kluwe L 2002 - - Unknown - - - - - DNA SEQ - - NF2 - Wallace AJ 2004; Kluwe L 2002 - - - - - - - - - 1 Laura Papi
+/+ 2 c.198C>G r.(?) p.(Tyr66*) Unknown - pathogenic g.30032823C>G g.29636834C>G - - NF2_000021 - - - - Unknown - - - - - DNA SEQ-NG blood - NF2 - - - - - - - - - - - 1 Beatrice Parfait
+/+ 2 c.223_232dup r.(?) p.(Asp78Alafs*11) Parent #1 - pathogenic g.30032848_30032857dup g.29636859_29636868dup - - NF2_000022 Mosaic - - - De novo - - - - - DNA SEQ-NG blood, tumour - NF2 - - Mosaic - - - - - - - - 1 Beatrice Parfait
+?/. - c.240G>A r.(?) p.(Lys80=) Unknown - likely pathogenic g.30032865G>A - - - NF2_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.240G>C r.(?) p.(Lys80Asn) Unknown - VUS g.30032865G>C g.29636876G>C NF2(NM_000268.3):c.240G>C (p.K80N) - NF2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.240+1del r.spl? p.? Unknown - pathogenic g.30032866del g.29636877del NF2(NM_181832.3):c.240delG (p.V81Yfs*42) - NF2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2i c.240+1G>A r.spl? p.? Unknown - pathogenic g.30032866G>A g.29636877G>A - - NF2_000023 - - - - Unknown - - - - - DNA SEQ-NG blood - NF2 - - - - - - - - - - - 1 Beatrice Parfait
+/. - c.240+1G>A r.spl? p.? Unknown - pathogenic g.30032866G>A - - - NF2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2i c.240+1G>T r.115_240del p.Met39_Lys80del Unknown - pathogenic g.30032866G>T g.29636877G>T - - NF2_000024 - PubMed: Rouleau 1993, PubMed: Twist 1994 - - Unknown - - - - - DNA SEQ-NG blood - NF2 - PubMed: Rouleau 1993, PubMed: Twist 1994 - - - - - - - - - 1 Beatrice Parfait
+/+ 2i c.240+1G>T r.115_240del p.Met39_Lys80del Unknown - pathogenic g.30032866G>T g.29636877G>T - - NF2_000024 - PubMed: Rouleau 1993, PubMed: Twist 1994 - - Unknown - - - - - DNA SEQ-NG blood - NF2 - PubMed: Rouleau 1993, PubMed: Twist 1994 - - - - - - - - - 1 Beatrice Parfait
+/. - c.240+1G>T r.spl? p.? Unknown - pathogenic g.30032866G>T g.29636877G>T NF2(NM_000268.3):c.240+1G>T - NF2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2i_3i c.241-591_364-954del r.(?) p.(Leu82_Val122del) Unknown - pathogenic g.30034488_30037237del g.29638499_29641248del - - NF2_000025 - - - - Unknown - - - - - DNA SEQ-NG blood - NF2 - - - - - - - - - - - 1 Beatrice Parfait
+/+ 2i_3 c.241-15_249del r.spl? p.? Unknown - pathogenic g.30035064_30035087del g.29639075_29639098del - - NF2_000026 - - - - Unknown - - - - - DNA SEQ-NG blood - NF2 - - - - - - - - - - - 1 Beatrice Parfait
+?/. - c.241-9A>G r.(=) p.(=) Unknown - likely pathogenic g.30035070A>G g.29639081A>G NF2(NM_000268.3):c.241-9A>G - NF2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.241-1G>A r.spl? p.? Unknown - pathogenic g.30035078G>A g.29639089G>A NF2(NM_000268.3):c.241-1G>A - NF2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.241-1G>T r.spl? p.? Unknown - pathogenic g.30035078G>T g.29639089G>T NF2(NM_000268.3):c.241-1G>T - NF2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2i_17_ c.(240+1_241-1)_(*60_?)del r.(?) p.? Unknown - pathogenic g.(30032866_30035078)_(30090851_?)del - - - NF2_000027 - - - - Unknown - - - - - DNA SEQ-NG blood - NF2 - - - - - - - - - - - 1 Beatrice Parfait
+/. - c.265del r.(?) p.(Glu89LysfsTer34) Unknown - pathogenic g.30035103del g.29639114del NF2(NM_000268.3):c.265delG (p.E89Kfs*34) - NF2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.270_273dup r.(?) p.(Val92ThrfsTer13) Unknown - pathogenic g.30035108_30035111dup g.29639119_29639122dup NF2(NM_000268.3):c.270_273dupACCA (p.V92Tfs*13) - NF2_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.290del r.(?) p.(Leu97Trpfs*26) Unknown - pathogenic g.30035128del - NF2(NM_000268.4):c.290delT (p.L97Wfs*26) - NF2_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.303T>G r.(?) p.(Tyr101Ter) Unknown - pathogenic g.30035141T>G g.29639152T>G NF2(NM_000268.3):c.303T>G (p.Y101*) - NF2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.307G>T r.(?) p.(Glu103Ter) Unknown - pathogenic g.30035145G>T g.29639156G>T NF2(NM_000268.3):c.307G>T (p.E103*) - NF2_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.325C>T r.(?) p.(Leu109=) Unknown - likely benign g.30035163C>T g.29639174C>T NF2(NM_000268.3):c.325C>T (p.L109=) - NF2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.343C>T r.(?) p.(Gln115*) Unknown - pathogenic g.30035181C>T g.29639192C>T - - NF2_000028 Mosaic PubMed: Wallace 2004 - - De novo - - - - - DNA SEQ-NG blood, tumour - NF2 - PubMed: Wallace 2004 Mosaic - - - - - - - - 1 Beatrice Parfait
+/. - c.343C>T r.(?) p.(Gln115Ter) Unknown - pathogenic g.30035181C>T g.29639192C>T NF2(NM_000268.3):c.343C>T (p.Q115*) - NF2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.357_359del r.(?) p.(Phe119del) Unknown - pathogenic g.30035195_30035197del g.29639206_29639208del - - NF2_000029 - PubMed: Ahronowitz 2007 - - Unknown - - - - - DNA SEQ-NG blood - NF2 - PubMed: Ahronowitz 2007 - - - - - - - - - 1 Beatrice Parfait
+/+ 3 c.361C>T r.(?) p.(Gln121*) Unknown - pathogenic g.30035199C>T g.29639210C>T - - NF2_000030 Mosaic PubMed: Irving 1997 - - De novo - - - - - DNA SEQ-NG blood, tumour - NF2 - PubMed: Irving 1997 Mosaic - - - - - - - - 1 Beatrice Parfait
-?/. - c.363+19C>A r.(=) p.(=) Unknown - likely benign g.30035220C>A g.29639231C>A NF2(NM_000268.3):c.363+19C>A - NF2_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3i_4i c.363+434_447+3395del r.(?) p.(Val122_Lys149del) Unknown - pathogenic g.30035635_30041669del g.29639646_29645680del - - NF2_000031 Mosaic - - - De novo - - - - - DNA SEQ-NG blood, tumour - NF2 - - Mosaic - - - - - - - - 1 Beatrice Parfait
+/+ 3i_4i c.364-103_447+2431del r.(?) p.(Val122_Lys149del) Unknown - pathogenic g.30038088_30040705del g.29642099_29644716del - - NF2_000032 Mosaic - - - De novo - - - - - DNA SEQ-NG blood, tumour - NF2 - - Mosaic - - - - - - - - 1 Beatrice Parfait
+/. - c.364-2A>G r.spl? p.? Unknown - pathogenic g.30038189A>G g.29642200A>G NF2(NM_000268.3):c.364-2A>G - NF2_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.373C>T r.(?) p.(Gln125*) Unknown - pathogenic g.30038200C>T g.29642211C>T - - NF2_000033 - - - - Unknown - - - - - DNA SEQ-NG saliva - NF2 - - - - - - - - - - - 1 Beatrice Parfait
+/. - c.373C>T r.(?) p.(Gln125Ter) Unknown - pathogenic g.30038200C>T - - - NF2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.406G>T r.(?) p.(Glu136Ter) Unknown - pathogenic g.30038233G>T g.29642244G>T NF2(NM_000268.3):c.406G>T (p.E136*) - NF2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.422T>C r.(?) p.(Leu141Pro) Unknown - likely pathogenic g.30038249T>C g.29642260T>C NF2(NM_000268.3):c.422T>C (p.L141P) - NF2_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.422T>C r.(?) p.(Leu141Pro) Unknown - likely pathogenic g.30038249T>C g.29642260T>C NF2(NM_000268.3):c.422T>C (p.L141P) - NF2_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.428_430del r.(?) p.(Ser143del) Maternal (confirmed) - pathogenic g.30038255_30038257del g.29642266_29642268del 428_430delCTT - NF2_000075 - PubMed: DiFrancesco 2014, Journal: DiFrancesco 2014 - - Germline yes - - - - DNA SEQ - - NF2 24667735-FamPatIII3 PubMed: DiFrancesco 2014, Journal: DiFrancesco 2014 3-generation family, 5 affecteds (3F, 2M) M - Italy South American - - - - 5 Johan den Dunnen
+/. - c.436_439del r.(?) p.(Val146ArgfsTer27) Unknown - pathogenic g.30038263_30038266del g.29642274_29642277del NF2(NM_000268.3):c.436_439delGTCC (p.V146Rfs*27) - NF2_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 4i c.448-26G>A r.spl? p.(=) Unknown - VUS g.30050620G>A g.29654631G>A - - NF2_000034 - - - - Unknown - - - - - DNA SEQ-NG blood - NF2 - - - - - - - - - - - 1 Beatrice Parfait
-?/. - c.448-17C>T r.(=) p.(=) Unknown - likely benign g.30050629C>T - - - NF2_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.448-2A>G r.spl? p.? Unknown - likely pathogenic g.30050644A>G g.29654655A>G - - NF2_000014 - PubMed: Contini 2015, Journal: Contini 2015 - - Germline - 0.60 reads - - - DNA SEQ-NG-I blood - NF2 - PubMed: Contini 2015, Journal: Contini 2015 - M - - - - - - - 1 Laura Papi
+?/. 5 c.448-2A>G r.spl? p.? Unknown - likely pathogenic 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 - - - - - DNA SEQ - - NF2 - Rouleau GA eta l., 1993; MacCollin M 1994; Kluwe L 1998; Evans DG 1998; Evans 2005; Mautner VF 2002 - - - - - - - - - 1 Laura Papi
+?/. 5 c.459C>A r.(?) p.(Tyr153*) Unknown - likely pathogenic g.30050657C>A g.29654668C>A - - NF2_000006 - PubMed: Contini 2015, Journal: Contini 2015 - - Somatic - 0.024 reads - - - DNA SEQ-NG-I blood - MCAHS1;GPIBD3, NF2 - PubMed: Contini 2015, Journal: Contini 2015 - M - Italy white - - - - 1 Laura Papi
+?/. 5 c.459C>A r.(?) p.(Tyr153*) Unknown - likely pathogenic g.30050657C>A g.29654668C>A - - NF2_000006 - PubMed: Hung G et al 2000; PubMed: Wallace AJ et al 2004 - - Unknown - - - - - DNA SEQ - - NF2 - PubMed: Hung G et al 2000; PubMed: Wallace AJ et al 2004 - - - - - - - - - 1 Laura Papi
+/. - c.459delinsTG r.(?) p.(Asp154GlyfsTer49) Unknown - pathogenic g.30050657delinsTG g.29654668delinsTG NF2(NM_000268.3):c.459delCinsTG (p.D154Gfs*49) - NF2_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.464C>T r.(?) p.(Pro155Leu) Unknown - likely pathogenic g.30050662C>T g.29654673C>T - - NF2_000007 - - - - Somatic yes - - - - DNA SEQ blood - NF2 - PubMed: Contini 2015, Journal: Contini 2015 - M - Italy - - - - - 1 Laura Papi
+/. - c.480_486del r.(?) p.(Gly161TrpfsTer11) Unknown - pathogenic g.30050678_30050684del g.29654689_29654695del NF2(NM_000268.3):c.480_486delGGGATTT (p.G161Wfs*11) - NF2_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.490del r.(?) p.(Ala164Profs*10) Unknown - pathogenic g.30050688del g.29654699del - - NF2_000035 Mosaic - - - De novo - - - - - DNA SEQ-NG blood, tumour - NF2 - - Mosaic - - - - - - - - 1 Beatrice Parfait
+/+ 5 c.493C>T r.(?) p.(Gln165*) Unknown - pathogenic g.30050691C>T g.29654702C>T - - NF2_000036 Mosaic - - - De novo - - - - - DNA SEQ-NG blood, tumour - NF2 - - Mosaic - - - - - - - - 1 Beatrice Parfait
?/. - c.497A>T r.(?) p.(Glu166Val) Unknown - VUS g.30050695A>T - - - NF2_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5i c.516+2T>C r.spl? p.? Unknown - pathogenic g.30050716T>C g.29654727T>C - - NF2_000037 - PubMed: Wallace 2004 - - Unknown - - - - - DNA SEQ-NG blood - NF2 - PubMed: Wallace 2004 - - - - - - - - - 1 Beatrice Parfait
+/. 5i c.516+232G>A r.516_517ins516+250_516+355 p.Val173Metfs32* Parent #1 - pathogenic 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+ - - DNA, RNA RT-PCR, SEQ - - NF2 09466995-Fam PubMed: de Klein 1998 4-generation family, 6 affecteds (3F, 3M) F;M no Netherlands - - - - - 6 Johan den Dunnen
+/. - c.528_529del r.(?) p.(Tyr177SerfsTer25) Unknown - pathogenic g.30051594_30051595del g.29655605_29655606del NF2(NM_000268.3):c.528_529delGT (p.Y177Sfs*25) - NF2_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.532C>T r.(?) p.(Gln178*) Unknown - likely pathogenic g.30051598C>T g.29655609C>T - - NF2_000008 - PubMed: Contini 2015, Journal: Contini 2015 - - Somatic - 0.29 reads - - - DNA SEQ-NG-I tumor - NF2 - PubMed: Contini 2015, Journal: Contini 2015 - F - - - - - - - 1 Laura Papi
+/+ 6 c.532C>T r.(?) p.(Gln178*) Unknown - pathogenic g.30051598C>T g.29655609C>T - - NF2_000008 - - - - Unknown - - - - - DNA SEQ-NG blood - NF2 - - - - - - - - - - - 1 Beatrice Parfait
+/. - c.532C>T r.(?) p.(Gln178*) Unknown - pathogenic g.30051598C>T - - - NF2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.548T>C r.(?) p.(Met183Thr) Unknown - VUS g.30051614T>C g.29655625T>C NF2(NM_000268.3):c.548T>C (p.M183T) - NF2_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.561_562del r.(?) p.(Arg187SerfsTer15) Unknown - pathogenic g.30051627_30051628del g.29655638_29655639del NF2(NM_000268.3):c.561_562delAA (p.R187Sfs*15) - NF2_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.564del r.(?) p.(Thr189LeufsTer20) Unknown - pathogenic g.30051630del g.29655641del - - NF2_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 6 c.568dup r.(?) p.(Ala190Glyfs*13) Unknown - pathogenic g.30051634dup g.29655645dup - - NF2_000038 - - - - Unknown - - - - - DNA SEQ-NG blood - NF2 - - - - - - - - - - - 1 Beatrice Parfait
+?/. - c.576del r.(?) p.(Tyr192*) Unknown ACMG likely pathogenic (dominant) g.30051642del g.29655653del - - NF2_000153 found in schwannoma A; VAF: 40% - - - Somatic - - - - - DNA SEQ-NG-I schwannoma biopsy 2 independent schwannomas have been analyzed NF2 163925 - For publication Steinke-Lange et al., 2021 M no Germany - - - - - 1 Andreas Laner
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