Full data view for gene TMEM120A

Information The variants shown are described using the NM_031925.2 transcript reference sequence.

82 entries on 1 page. Showing entries 1 - 82.
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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.346G>A r.(?) p.(Val116Ile) Unknown - likely benign g.75618514C>T g.75989196C>T TMEM120A(NM_031925.2):c.346G>A (p.(Val116Ile)) - POR_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.612G>A r.(?) p.(Ser204=) Unknown - VUS g.75617418C>T g.75988100C>T TMEM120A(NM_031925.3):c.612G>A (p.S204=) - POR_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.808C>T r.(?) p.? Unknown - VUS g.75616897G>A - TMEM120A(NM_031925.2):c.808C>T (p.(Arg270Trp)) - POR_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1015G>A r.(?) p.(Gly339Arg) Unknown - likely benign g.75616507C>T g.75987189C>T TMEM120A(NM_031925.3):c.1015G>A (p.G339R) - POR_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*82C>T r.(=) p.(=) Unknown - likely benign g.75616408G>A g.75987090G>A TMEM120A(NM_001317803.1):c.1052C>T (p.A351V) - POR_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*703G>A r.(=) p.(=) Unknown - likely benign g.75615787C>T - POR(NM_001367562.1):c.2031C>T (p.D677=) - POR_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*938C>T r.(=) p.(=) Unknown - likely benign g.75615552G>A g.75986234G>A POR(NM_000941.2):c.1891G>A (p.(Val631Ile)), POR(NM_001367562.1):c.1891G>A (p.V631I) - POR_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*938C>T r.(=) p.(=) Unknown - likely benign g.75615552G>A - POR(NM_000941.2):c.1891G>A (p.(Val631Ile)), POR(NM_001367562.1):c.1891G>A (p.V631I) - POR_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1096C>T r.(=) p.(=) Unknown - benign g.75615394G>A g.75986076G>A POR(NM_000941.2):c.1815+8G>A - POR_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1096C>T r.(=) p.(=) Unknown - likely benign g.75615394G>A g.75986076G>A POR(NM_000941.2):c.1815+8G>A - POR_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1134G>A r.(=) p.(=) Unknown - likely benign g.75615356C>T g.75986038C>T POR(NM_001367562.1):c.1785C>T (p.N595=) - POR_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1171G>A r.(=) p.(=) Unknown - likely benign g.75615319C>T - POR(NM_000941.2):c.1748C>T (p.(Ala583Val)) - POR_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1203C>T r.(=) p.(=) Unknown - benign g.75615287G>A g.75985969G>A POR(NM_001382658.3):c.1707G>A (p.S569=) - POR_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1203C>T r.(=) p.(=) Unknown - benign g.75615287G>A g.75985969G>A POR(NM_001382658.3):c.1707G>A (p.S569=) - POR_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1210C>T r.(=) p.(=) Unknown - VUS g.75615280G>A g.75985962G>A POR(NM_000941.2):c.1709G>A (p.R570H, p.(Arg570His)) - POR_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1210C>T r.(=) p.(=) Unknown - VUS g.75615280G>A - POR(NM_000941.2):c.1709G>A (p.R570H, p.(Arg570His)) - POR_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1217C>T r.(=) p.(=) Unknown - VUS g.75615273G>A - POR(NM_000941.2):c.1702G>A (p.(Gly568Ser)), POR(NM_001367562.1):c.1702G>A (p.G568S) - POR_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1217C>T r.(=) p.(=) Unknown - VUS g.75615273G>A - POR(NM_000941.2):c.1702G>A (p.(Gly568Ser)), POR(NM_001367562.1):c.1702G>A (p.G568S) - POR_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1248G>A r.(=) p.(=) Unknown - VUS g.75615242C>T - POR(NM_001367562.1):c.1671C>T (p.G557=) - POR_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*1344G>A r.(=) p.(=) Unknown - pathogenic g.75615146C>T - POR(NM_000941.2):c.1648C>T (p.(Arg550Trp)) - POR_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1484G>A r.(=) p.(=) Unknown - benign g.75615006C>T g.75985688C>T - - POR_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1491C>T r.(=) p.(=) Unknown - likely benign g.75614999G>A - POR(NM_000941.2):c.1501G>A (p.E501K) - POR_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1537A>G r.(=) p.(=) Unknown - benign g.75614953T>C g.75985635T>C POR(NM_001382658.3):c.1446T>C (p.A482=) - POR_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1537A>G r.(=) p.(=) Unknown - benign g.75614953T>C g.75985635T>C POR(NM_001382658.3):c.1446T>C (p.A482=) - POR_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1565G>A r.(=) p.(=) Unknown - VUS g.75614925C>T - POR(NM_001382655.1):c.1481C>T (p.(Ala494Val)) - POR_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1578C>T r.(=) p.(=) Unknown - VUS g.75614912G>A - POR(NM_000941.2):c.1414G>A (p.V472M) - POR_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1584T>G r.(=) p.(=) Unknown - VUS g.75614906A>C - POR(NM_001382655.1):c.1462A>C (p.(Asn488His)) - POR_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2008G>A r.(=) p.(=) Unknown - VUS g.75614482C>T - POR(NM_000941.2):c.1355C>T (p.P452L) - POR_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*2039del r.? p.? Unknown - pathogenic g.75614456del - POR(NM_000941.2):c.1329delC (p.I444Sfs*101) - POR_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2099A>C r.(=) p.(=) Unknown - VUS g.75614391T>G - POR(NM_000941.2):c.1264T>G (p.W422G) - POR_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2187_*2210del r.(=) p.(=) Unknown - likely benign g.75614286_75614309del g.75984968_75984991del POR(NM_000941.2):c.1248+10_1248+33del (p.(=)) - POR_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2194C>T r.(=) p.(=) Unknown - benign g.75614296G>A g.75984978G>A POR(NM_001382658.3):c.1239+20G>A - POR_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2194C>T r.(=) p.(=) Unknown - benign g.75614296G>A g.75984978G>A POR(NM_001382658.3):c.1239+20G>A - POR_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2202G>A r.(=) p.(=) Unknown - benign g.75614288C>T g.75984970C>T POR(NM_001382658.3):c.1239+12C>T - POR_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2202G>A r.(=) p.(=) Unknown - benign g.75614288C>T g.75984970C>T POR(NM_001382658.3):c.1239+12C>T - POR_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2272G>A r.(=) p.(=) Unknown - VUS g.75614218C>T g.75984900C>T POR(NM_000941.2):c.1190C>T (p.S397L) - POR_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*2287dup r.? p.? Unknown - likely pathogenic g.75614203dup - - - POR_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2314G>A r.(=) p.(=) Unknown - likely benign g.75614176C>T - POR(NM_000941.2):c.1148C>T (p.(Pro383Leu)) - POR_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2347G>A r.(=) p.(=) Unknown - VUS g.75614143C>T - POR(NM_000941.2):c.1115C>T (p.(Thr372Met)) - POR_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2394_*2396del r.(=) p.(=) Unknown - VUS g.75614097_75614099del - POR(NM_000941.2):c.1069_1071del (p.(Glu357del)) - POR_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2408G>C r.(=) p.(=) Unknown - benign g.75614082C>G g.75984764C>G POR(NM_001382658.3):c.1058-13C>G - POR_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2408G>C r.(=) p.(=) Unknown - benign g.75614082C>G g.75984764C>G POR(NM_001382658.3):c.1058-13C>G - POR_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*3329del r.? p.? Unknown - pathogenic g.75613161del g.75983843del - - POR_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3341G>A r.(=) p.(=) Unknown - likely benign g.75613149C>T g.75983831C>T POR(NM_000941.2):c.1041C>T (p.V347=) - POR_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3353G>A r.(=) p.(=) Unknown - likely benign g.75613137C>T g.75983819C>T POR(NM_000941.2):c.1029C>T (p.A343=) - POR_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3398G>A r.(=) p.(=) Unknown - likely benign g.75613092C>T g.75983774C>T POR(NM_001367562.1):c.984C>T (p.A328=) - POR_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3398G>A r.(=) p.(=) Unknown - likely benign g.75613092C>T - POR(NM_001367562.1):c.984C>T (p.A328=) - POR_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3576G>A r.(=) p.(=) Unknown - likely benign g.75612914C>T - POR(NM_000941.2):c.907C>T (p.(Leu303Phe)) - POR_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3605C>T r.(=) p.(=) Unknown - VUS g.75612885G>A g.75983567G>A POR(NM_000941.2):c.878G>A (p.(Arg293Gln)) - POR_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4856T>C r.(=) p.(=) Unknown - VUS g.75611634A>G - POR(NM_001367562.1):c.824A>G (p.Q275R) - POR_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4863C>T r.(=) p.(=) Unknown - VUS g.75611627G>A - POR(NM_000941.2):c.817G>A (p.E273K) - POR_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4867G>T r.(=) p.(=) Unknown - VUS g.75611623C>A g.75982305C>A POR(NM_000941.2):c.813C>A (p.S271R) - POR_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4877C>T r.(=) p.(=) Unknown - VUS g.75611613G>A - POR(NM_000941.2):c.803G>A (p.R268Q) - POR_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4916T>C r.(=) p.(=) Unknown - VUS g.75611574A>G - POR(NM_000941.2):c.764A>G (p.(Asp255Gly)) - POR_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4928A>G r.(=) p.(=) Unknown - likely benign g.75611562T>C - POR(NM_000941.2):c.752T>C (p.(Val251Ala)) - POR_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5610G>A r.(=) p.(=) Unknown - likely benign g.75610880C>T g.75981562C>T POR(NM_001367562.1):c.687C>T (p.A229=) - POR_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5614G>A r.(=) p.(=) Unknown - VUS g.75610876C>T g.75981558C>T POR(NM_000941.2):c.683C>T (p.(Pro228Leu)), POR(NM_001367562.1):c.683C>T (p.P228L) - POR_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5614G>A r.(=) p.(=) Unknown - likely benign g.75610876C>T - POR(NM_000941.2):c.683C>T (p.(Pro228Leu)), POR(NM_001367562.1):c.683C>T (p.P228L) - POR_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5629C>T r.(=) p.(=) Unknown - VUS g.75610861G>A - POR(NM_001382655.1):c.722G>A (p.(Arg241Gln)) - POR_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*5630G>A r.(=) p.(=) Unknown - pathogenic g.75610860C>T g.75981542C>T - - POR_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5660G>C r.(=) p.(=) Unknown - likely benign g.75610830C>G - POR(NM_000941.2):c.642-5C>G - POR_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6001T>C r.(=) p.(=) Unknown - VUS g.75610489A>G - POR(NM_000941.2):c.640A>G (p.(Asn214Asp)) - POR_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6010C>T r.(=) p.(=) Unknown - VUS g.75610480G>A - POR(NM_001382655.1):c.685G>A (p.(Asp229Asn)) - POR_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6128C>T r.(=) p.(=) Unknown - likely benign g.75610362G>A g.75981044G>A POR(NM_000941.2):c.517-4G>A (p.?) - POR_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6708C>T r.(=) p.(=) Unknown - likely benign g.75609782G>A - POR(NM_000941.2):c.492G>A (p.V164=) - POR_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6791C>A r.(=) p.(=) Unknown - VUS g.75609699G>T g.75980381G>T POR(NM_000941.2):c.409G>T (p.V137F) - POR_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6801G>A r.(=) p.(=) Unknown - likely benign g.75609689C>T - POR(NM_000941.2):c.399C>T (p.N133=) - POR_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*6813T>C r.(=) p.(=) Unknown - benign g.75609677A>G g.75980359A>G POR(NM_001382658.3):c.378A>G (p.P126=) - POR_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*6813T>C r.(=) p.(=) Unknown - benign g.75609677A>G g.75980359A>G POR(NM_001382658.3):c.378A>G (p.P126=) - POR_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*6831G>A r.(=) p.(=) Unknown - benign g.75609659C>T g.75980341C>T POR(NM_000941.2):c.369C>T (p.A123=, p.(=)) - POR_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6831G>A r.(=) p.(=) Unknown - likely benign g.75609659C>T - POR(NM_000941.2):c.369C>T (p.A123=, p.(=)) - POR_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7615G>A r.(=) p.(=) Unknown - VUS g.75608875C>T - POR(NM_000941.2):c.344C>T (p.A115V), POR(NM_001382655.1):c.398C>T (p.(Ala133Val)) - POR_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7615G>A r.(=) p.(=) Unknown - VUS g.75608875C>T - POR(NM_000941.2):c.344C>T (p.A115V), POR(NM_001382655.1):c.398C>T (p.(Ala133Val)) - POR_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7634C>T r.(=) p.(=) Unknown - VUS g.75608856G>A - POR(NM_001382655.1):c.379G>A (p.(Gly127Arg)) - POR_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7640G>A r.(=) p.(=) Unknown - VUS g.75608850C>T - POR(NM_001382655.1):c.373C>T (p.(Arg125Cys)) - POR_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7646C>T r.(=) p.(=) Unknown - VUS g.75608844G>A - POR(NM_000941.2):c.313G>A (p.(Ala105Thr)) - POR_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7686C>T r.(=) p.(=) Unknown - likely benign g.75608804G>A - POR(NM_000941.2):c.273G>A (p.T91=) - POR_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7687G>A r.(=) p.(=) Unknown - VUS g.75608803C>T g.75979485C>T POR(NM_000941.2):c.272C>T (p.T91M) - POR_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*33026_*33028del r.(=) p.(=) Unknown - VUS g.75583468_75583470del g.75954150_75954152del POR(NM_000941.2):c.158_160delAAG (p.E53del) - POR_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*33107G>A r.(=) p.(=) Unknown - likely benign g.75583383C>T g.75954065C>T POR(NM_000941.2):c.73C>T (p.(Leu25Phe)) - POR_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*33165T>C r.(=) p.(=) Unknown - benign g.75583325A>G - POR(NM_000941.2):c.15A>G (p.G5=) - POR_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*72035T>G r.(=) p.(=) Unknown - benign g.75544455A>C g.75915137A>C - - POR_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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