Full data view for gene NF2

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

17 entries on 1 page. Showing entries 1 - 17.
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Effect     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Date     

Template     

Technique     

Tissue     

Description     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Population     

Consanguinity     

Age of death     

Cause of death     

Remarks     

Panel size     

Owner     
+/+ c.185T>C p.(Phe62Ser) missense_variant - 2/16 probably_damaging(1) r.(?) deleterious(0) Unknown subst g.30032810T>C - 6.020 - NF2_000014 rs121434261 - ; clinvar; 8081368;12118253;8757035 - - - - - - - - - - - - - - - - - - -
?/? c.240+1G>T p.? splice_donor_variant - - - r.spl? - Unknown subst g.30032866G>T - 5.720 - NF2_000012 - - ; - - - - - - - - - - - - - - - - - - - -
+/+ c.286_288del p.(Phe96del) - - - - r.(?) - Unknown del g.30035124_30035126del - - - NF2_000013 rs121434260 - ; clinvar; 7913580 - - - - - - - - - - - - - - - - - - -
+/+ c.544G>T p.(Glu182*) stop_gained - 6/16 - r.(?) - Unknown subst g.30051610G>T - 5.410 - NF2_000001 rs74315495 - ; clinvar; 7913580 - - - - - - - - - - - - - - - - - - -
+/+ c.784C>T p.(Arg262*) stop_gained - 8/16 - r.(?) - Unknown subst g.30057302C>T - 2.320 - NF2_000002 rs74315496 - ; clinvar; 7913580 - - - - - - - - - - - - - - - - - - -
+/+ c.958C>T p.(Gln320*) stop_gained - 10/16 - r.(?) - Unknown subst g.30064394C>T - 5.700 - NF2_000003 rs74315497 - ; clinvar; 7913580 - - - - - - - - - - - - - - - - - - -
?/? c.970C>T p.(Gln324*) stop_gained - 10/16 - r.(?) - Unknown subst g.30064406C>T - 5.700 - NF2_000015 rs74315500 - ; 7913580 - - - - - - - - - - - - - - - - - - -
+/+ c.1021C>T p.(Arg341*) stop_gained - 11/16 - r.(?) - Unknown subst g.30067836C>T - 3.380 - NF2_000004 rs74315499 - ; clinvar; 7913580 - - - - - - - - - - - - - - - - - - -
+/+ c.1079T>C p.(Leu360Pro) missense_variant - 11/16 probably_damaging(0.999) r.(?) deleterious(0) Unknown subst g.30067894T>C - 5.560 - NF2_000005 rs74315492 - ; clinvar; 4000972;8379998 - - - - - - - - - - - - - - - - - - -
?/? c.1084C>T p.(Gln362*) stop_gained - 11/16 - r.(?) - Unknown subst g.30067899C>T - 5.560 - NF2_000016 rs74315498 - ; 7913580 - - - - - - - - - - - - - - - - - - -
+/+ c.1219C>T p.(Gln407*) stop_gained - 12/16 - r.(?) - Unknown subst g.30069354C>T - 6.060 - NF2_000006 rs74315501 - ; clinvar; 7913580 - - - - - - - - - - - - - - - - - - -
+/+ c.1387G>A p.(Glu463Lys) missense_variant - 13/16 possibly_damaging(0.713) r.(?) tolerated(0.48) Unknown subst g.30070871G>A - 5.600 - NF2_000007 rs74315503 - ; clinvar; 7913580 - - - - - - - - - - - - - - - - - - -
+/+ c.1387G>T p.(Glu463*) stop_gained - 13/16 - r.(?) - Unknown subst g.30070871G>T - 5.600 - NF2_000017 rs74315503 - ; clinvar; 7913580 - - - - - - - - - - - - - - - - - - -
+/+ c.1396C>T p.(Arg466*) stop_gained - 13/16 - r.(?) - Unknown subst g.30070880C>T - 4.500 - NF2_000008 rs74315504 - ; clinvar; 7913580 - - - - - - - - - - - - - - - - - - -
+/+ c.1579G>T p.(Glu527*) stop_gained - 15/16 - r.(?) - Unknown subst g.30077432G>T - 6.030 - NF2_000009 rs74315505 - ; clinvar; 7913580 - - - - - - - - - - - - - - - - - - -
+/+ c.1604T>C p.(Leu535Pro) missense_variant - 15/16 probably_damaging(0.992) r.(?) deleterious(0) Unknown subst g.30077457T>C - 6.030 - NF2_000010 rs74315493 - ; clinvar; 7666400 - - - - - - - - - - - - - - - - - - -
+/+ c.1613A>C p.(Gln538Pro) missense_variant - 15/16 probably_damaging(0.982) r.(?) deleterious(0) Unknown subst g.30077466A>C - 5.000 - NF2_000011 rs74315494 - ; clinvar; 8566958 - - - - - - - - - - - - - - - - - - -
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