Unique variants in gene NF2

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

25 entries on 1 page. Showing entries 1 - 25.
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Effect     

Reported     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
+/+ 1 c.185T>C p.(Phe62Ser) missense_variant - 2/16 probably_damaging(1) r.(?) deleterious(0) subst g.30032810T>C - 6.020 - NF2_000014 rs121434261 - ; clinvar; 8081368;12118253;8757035 - - LOVD
?/? 1 c.240+1G>T p.? splice_donor_variant - - - r.spl? - subst g.30032866G>T - 5.720 - NF2_000012 - - ; - - - LOVD
+/+ 1 c.286_288del p.(Phe96del) - - - - r.(?) - del g.30035124_30035126del - - - NF2_000013 rs121434260 - ; clinvar; 7913580 - - LOVD
+/+ 1 c.544G>T p.(Glu182*) stop_gained - 6/16 - r.(?) - subst g.30051610G>T - 5.410 - NF2_000001 rs74315495 - ; clinvar; 7913580 - - LOVD
+/+ 1 c.784C>T p.(Arg262*) stop_gained - 8/16 - r.(?) - subst g.30057302C>T - 2.320 - NF2_000002 rs74315496 - ; clinvar; 7913580 - - LOVD
+/+ 1 c.958C>T p.(Gln320*) stop_gained - 10/16 - r.(?) - subst g.30064394C>T - 5.700 - NF2_000003 rs74315497 - ; clinvar; 7913580 - - LOVD
?/? 1 c.970C>T p.(Gln324*) stop_gained - 10/16 - r.(?) - subst g.30064406C>T - 5.700 - NF2_000015 rs74315500 - ; 7913580 - - LOVD
+/+ 1 c.1021C>T p.(Arg341*) stop_gained - 11/16 - r.(?) - subst g.30067836C>T - 3.380 - NF2_000004 rs74315499 - ; clinvar; 7913580 - - LOVD
+/+ 1 c.1079T>C p.(Leu360Pro) missense_variant - 11/16 probably_damaging(0.999) r.(?) deleterious(0) subst g.30067894T>C - 5.560 - NF2_000005 rs74315492 - ; clinvar; 4000972;8379998 - - LOVD
?/? 1 c.1084C>T p.(Gln362*) stop_gained - 11/16 - r.(?) - subst g.30067899C>T - 5.560 - NF2_000016 rs74315498 - ; 7913580 - - LOVD
+/+ 1 c.1219C>T p.(Gln407*) stop_gained - 12/16 - r.(?) - subst g.30069354C>T - 6.060 - NF2_000006 rs74315501 - ; clinvar; 7913580 - - LOVD
+/+ 1 c.1387G>A p.(Glu463Lys) missense_variant - 13/16 possibly_damaging(0.713) r.(?) tolerated(0.48) subst g.30070871G>A - 5.600 - NF2_000007 rs74315503 - ; clinvar; 7913580 - - LOVD
+/+ 1 c.1387G>T p.(Glu463*) stop_gained - 13/16 - r.(?) - subst g.30070871G>T - 5.600 - NF2_000017 rs74315503 - ; clinvar; 7913580 - - LOVD
+/+ 1 c.1396C>T p.(Arg466*) stop_gained - 13/16 - r.(?) - subst g.30070880C>T - 4.500 - NF2_000008 rs74315504 - ; clinvar; 7913580 - - LOVD
+/+ 1 c.1579G>T p.(Glu527*) stop_gained - 15/16 - r.(?) - subst g.30077432G>T - 6.030 - NF2_000009 rs74315505 - ; clinvar; 7913580 - - LOVD
+/+ 1 c.1604T>C p.(Leu535Pro) missense_variant - 15/16 probably_damaging(0.992) r.(?) deleterious(0) subst g.30077457T>C - 6.030 - NF2_000010 rs74315493 - ; clinvar; 7666400 - - LOVD
+/+ 1 c.1613A>C p.(Gln538Pro) missense_variant - 15/16 probably_damaging(0.982) r.(?) deleterious(0) subst g.30077466A>C - 5.000 - NF2_000011 rs74315494 - ; clinvar; 8566958 - - LOVD
./. 1 c.*266G>T p.(=) - - - - r.(=) - - g.30091057G>T - - - NF2_000025 - - ; clinvar; - - - LOVD
./. 1 c.*335C>T p.(=) - - - - r.(=) - - g.30091126C>T - - - NF2_000024 - - ; clinvar; - - - LOVD
./. 1 c.*359G>A p.(=) - - - - r.(=) - - g.30091150G>A - - - NF2_000022 - - ; clinvar; - - - LOVD
./. 1 c.*704del p.(=) - - - - r.(=) - - g.30091495del - - - NF2_000023 - - ; clinvar; - - - LOVD
./. 1 c.*1111G>T p.(=) - - - - r.(=) - - g.30091902G>T - - - NF2_000019 - - ; clinvar; - - - LOVD
./. 1 c.*1208C>T p.(=) - - - - r.(=) - - g.30091999C>T - - - NF2_000020 - - ; clinvar; - - - LOVD
./. 1 c.*1297A>G p.(=) - - - - r.(=) - - g.30092088A>G - - - NF2_000021 - - ; clinvar; - - - LOVD
./. 1 c.*1439T>C p.(=) - - - - r.(=) - - g.30092230T>C - - - NF2_000018 - - ; clinvar; - - - LOVD
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