LARP1 — 119 ClinVar variants

All ClinVar germline LARP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

1 Conflicting · 1 Benign · 5 Likely benign · 112 Uncertain significance

Full LARP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

All LARP1 variants

Conflicting classifications of pathogenicity 1

p.Thr1093Ile Single submitter

Benign 1

p.Tyr949= Single submitter

Likely benign 5

p.Arg285Cys Single submitter
p.Gln307= Single submitter
p.Gly1047Ser Single submitter
p.Trp1084Arg Single submitter
p.Val299Met Single submitter

Uncertain significance 112

c.3081+5G>C Single submitter
p.Ala300Pro Single submitter
p.Ala333fs Single submitter
p.Ala524Glu Single submitter
p.Ala524Ser Single submitter
p.Ala524Val Single submitter
p.Ala764Thr Single submitter
p.Ala943Gly Single submitter
p.Arg1019Gln Single submitter
p.Arg1038Gln Single submitter
p.Arg1053Trp Single submitter
p.Arg1079Gln Single submitter
p.Arg1079Leu Single submitter
p.Arg162Cys Single submitter
p.Arg162Gly Single submitter
p.Arg162His Single submitter
p.Arg271Cys Single submitter
p.Arg279Ser Single submitter
p.Arg340Cys Single submitter
p.Arg348Gln Single submitter
p.Arg350Cys Single submitter
p.Arg352Trp Single submitter
p.Arg508His Single submitter
p.Arg523His Single submitter
p.Arg668His Single submitter
p.Arg778Cys Single submitter
p.Arg808Trp Single submitter
p.Arg839Cys Single submitter
p.Arg844His Single submitter
p.Arg894His Single submitter
p.Asn389Asp Single submitter
p.Asn708Lys Single submitter
p.Asn752Ser Single submitter
p.Asp399Tyr Single submitter
p.Asp610Glu Single submitter
p.Asp660Asn Single submitter
p.Asp660His Single submitter
p.Asp660Tyr Single submitter
p.Gln1092Arg Single submitter
p.Gln796His Single submitter
p.Gln937His Single submitter
p.Glu1049Ala Single submitter
p.Glu22Gly Single submitter
p.Glu230Val Single submitter
p.Glu611Lys Single submitter
p.Gly1016Ser Single submitter
p.Gly1034Ser Single submitter
p.Gly286Arg Single submitter
p.Gly332Val Single submitter
p.Gly347Ser Single submitter
p.Gly347Val Single submitter
p.Gly351Ser Single submitter
p.Gly51Val Single submitter
p.Gly658Ala Single submitter
p.Gly833Val Single submitter
p.His888Arg Single submitter
p.Ile281Val Single submitter
p.Ile488Val Single submitter
p.Leu41Trp Single submitter
p.Leu62Val Single submitter
p.Leu951Ser Single submitter
p.Lys1001Gln Single submitter
p.Lys289Arg Single submitter
p.Lys473Glu Single submitter
p.Lys710Arg Single submitter
p.Lys881Gln Single submitter
p.Lys929Arg Single submitter
p.Met1065Ile Single submitter
p.Met1065Lys Single submitter
p.Met206Val Single submitter
p.Met653Val Single submitter
p.Phe337_Gly339delinsCys Single submitter LARP1-related disorder
p.Phe337Ser Single submitter
p.Phe359Leu Single submitter
p.Phe415Tyr Single submitter
p.Phe65Leu Single submitter
p.Phe971Leu Single submitter
p.Phe971Ser Single submitter
p.Pro1028Ser Single submitter
p.Pro1069His Single submitter
p.Pro1069Ser Single submitter
p.Pro1073Leu Single submitter
p.Pro159Arg Single submitter
p.Pro254Leu Single submitter
p.Pro276Leu Single submitter
p.Pro301Thr Single submitter
p.Pro312Leu Single submitter
p.Pro377Ser Single submitter
p.Pro45Leu Single submitter
p.Pro487Leu Single submitter
p.Pro590Ser Single submitter
p.Pro758Ser Single submitter
p.Ser1059Tyr Single submitter
p.Ser1086Arg Single submitter
p.Ser191Ala Single submitter
p.Ser215Asn Single submitter
p.Ser323Leu Single submitter
p.Ser327Cys Single submitter
p.Ser838Phe Single submitter
p.Ser909Thr Single submitter
p.Thr1071Ile Single submitter
p.Thr223Ile Single submitter
p.Thr376Met Single submitter
p.Tyr633Cys Single submitter
p.Tyr652Cys Single submitter
p.Tyr699His Single submitter
p.Tyr958Cys Single submitter
p.Val153Met Single submitter
p.Val297Met Single submitter
p.Val417Met Single submitter
p.Val525Ile Single submitter
p.Val889Ile Single submitter