Full data view for gene NAV2

Information The variants shown are described using the NM_145117.4 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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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     
-?/. - c.333C>T r.(?) p.(Leu111=) Unknown - likely benign g.19854095C>T - NAV2(NM_001111018.1):c.141C>T (p.(Leu47=)) - NAV2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.587_589del r.(?) p.(Gln196del) Parent #2 - VUS g.19901490_19901492del g.19879944_19879946del - - NAV2_000014 - PubMed: Arno 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease EG76;FamAPatII1 PubMed: Arno 2016 2-generation family, 1 affected, unaffected parents M no - Asia - - - - 1 Johan den Dunnen
-?/. - c.621G>A r.(?) p.(Pro207=) Unknown - likely benign g.19901524G>A - NAV2(NM_182964.6):c.621G>A (p.P207=) - NAV2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.770+4186T>A r.(=) p.(=) Unknown - likely benign g.19905859T>A g.19884313T>A NAV2(NM_001244963.1):c.790T>A (p.S264T) - NAV2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.825C>T r.(?) p.(Arg275=) Unknown - likely benign g.19914034C>T g.19892488C>T NAV2(NM_001244963.1):c.894C>T (p.R298=) - NAV2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.908C>A r.(?) p.(Pro303Gln) Unknown - likely benign g.19914117C>A - NAV2(NM_145117.4):c.908C>A (p.(Pro303Gln)) - NAV2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1320G>A r.(?) p.(Glu440=) Unknown - likely benign g.19955110G>A g.19933564G>A NAV2(NM_001244963.1):c.1389G>A (p.E463=) - NAV2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1391A>G r.(?) p.(Lys464Arg) Unknown - likely benign g.19955181A>G - NAV2(NM_001111018.1):c.1199A>G (p.(Lys400Arg)) - NAV2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1480C>T r.(?) p.(Arg494Trp) Unknown - VUS g.19955270C>T g.19933724C>T NAV2(NM_001244963.1):c.1549C>T (p.R517W) - NAV2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1532C>T r.(?) p.(Thr511Met) Unknown - likely benign g.19955322C>T - NAV2(NM_001111018.1):c.1340C>T (p.(Thr447Met)) - NAV2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1573A>G r.(?) p.(Ser525Gly) Unknown - likely benign g.19955363A>G - NAV2(NM_145117.4):c.1573A>G (p.(Ser525Gly)) - NAV2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1729C>T r.(?) p.(Pro577Ser) Unknown - likely benign g.19955519C>T - NAV2(NM_001111018.1):c.1537C>T (p.(Pro513Ser)) - NAV2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1742C>T r.(?) p.(Ala581Val) Parent #1 - benign g.19955532C>T g.19933986C>T - - NAV2_000015 - PubMed: Arno 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease EG76;FamAPatII1 PubMed: Arno 2016 2-generation family, 1 affected, unaffected parents M no - Asia - - - - 1 Johan den Dunnen
-?/. - c.2282A>G r.(?) p.(Asn761Ser) Unknown - likely benign g.19970263A>G - NAV2(NM_145117.4):c.2282A>G (p.(Asn761Ser)) - NAV2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2472C>T r.(?) p.(Ser824=) Unknown - likely benign g.19970453C>T g.19948907C>T NAV2(NM_001244963.1):c.2541C>T (p.S847=) - NAV2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2768+9427T>C r.(=) p.(=) Both (homozygous) - VUS g.20015220T>C g.19993674T>C - - NAV2_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.3171G>A r.(?) p.(Pro1057=) Unknown - likely benign g.20065790G>A g.20044244G>A NAV2(NM_001244963.1):c.3240G>A (p.P1080=) - NAV2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3830T>G r.(?) p.(Val1277Gly) Unknown - VUS g.20067144T>G - NAV2(NM_182964.6):c.3830T>G (p.V1277G) - NAV2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4297A>G r.(?) p.(Ile1433Val) Unknown - likely benign g.20070668A>G g.20049122A>G NAV2(NM_001111018.1):c.4105A>G (p.(Ile1369Val)), NAV2(NM_001244963.1):c.4366A>G (p.I1456V) - NAV2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4297A>G r.(?) p.(Ile1433Val) Unknown - likely benign g.20070668A>G - NAV2(NM_001111018.1):c.4105A>G (p.(Ile1369Val)), NAV2(NM_001244963.1):c.4366A>G (p.I1456V) - NAV2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4299C>T r.(?) p.(Ile1433=) Unknown - likely benign g.20070670C>T g.20049124C>T NAV2(NM_001244963.1):c.4368C>T (p.I1456=) - NAV2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4443G>T r.(?) p.(Pro1481=) Unknown - likely benign g.20072841G>T g.20051295G>T NAV2(NM_001244963.1):c.4512G>T (p.P1504=), NAV2(NM_145117.5):c.4443G>T (p.(Pro1481=)) - NAV2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4443G>T r.(?) p.(Pro1481=) Unknown - VUS g.20072841G>T - NAV2(NM_001244963.1):c.4512G>T (p.P1504=), NAV2(NM_145117.5):c.4443G>T (p.(Pro1481=)) - NAV2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.6112G>A r.(?) p.(Glu2038Lys) Unknown - likely pathogenic g.20119222G>A g.20097676G>A - - NAV2_000018 - in submission - rs146720224 Germline - - - - - DNA SEQ, SEQ-NG - - ? - - in submission - - Germany - - - - - 1 Ralph Roeth
?/. - c.6344T>C r.(?) p.(Ile2115Thr) Unknown - VUS g.20122645T>C - NAV2(NM_145117.5):c.6344T>C (p.(Ile2115Thr)) - NAV2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6353G>A r.(?) p.(Arg2118Gln) Unknown - likely benign g.20122654G>A - NAV2(NM_145117.4):c.6353G>A (p.(Arg2118Gln)) - NAV2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6413G>T r.(?) p.(Ser2138Ile) Unknown - VUS g.20122714G>T - NAV2(NM_145117.5):c.6413G>T (p.(Ser2138Ile)) - NAV2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.6424C>T r.(?) p.(Arg2142Cys) Unknown - likely pathogenic g.20124807C>T g.20103261C>T - - NAV2_000019 - in submission - rs34329467 Germline - - - - - DNA SEQ, SEQ-NG - - ? - - in submission - - Germany - - - - - 1 Ralph Roeth
-?/. - c.6424C>T r.(?) p.(Arg2142Cys) Unknown - likely benign g.20124807C>T - NAV2(NM_001111018.1):c.6232C>T (p.(Arg2078Cys)) - NAV2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6425G>A r.(?) p.(Arg2142His) Unknown - VUS g.20124808G>A g.20103262G>A NAV2(NM_001244963.1):c.6602G>A (p.R2201H) - NAV2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6876G>A r.(?) p.(Val2292=) Unknown - likely benign g.20129244G>A - NAV2(NM_001111018.1):c.6684G>A (p.(Val2228=)) - NAV2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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