TLN1 — 250 ClinVar variants

All ClinVar germline TLN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 203 flagged for review →

1 Likely pathogenic · 8 Benign · 15 Likely benign · 226 Uncertain significance

Full TLN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 203

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors lean, ClinVar uncertain 147

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 56

The independent predictors disagree with each other — read with care.

All TLN1 variants

Likely pathogenic 1

c.7188+2T>C Single submitter capillary leak syndrome

Benign 8

c.2459-5C>T Multiple submitters
p.Ala1545= Multiple submitters
p.Ala1821= Multiple submitters
p.Leu778= Multiple submitters
p.Pro1740= Multiple submitters
p.Thr1029= Multiple submitters
p.Thr1867= Multiple submitters
p.Glu80= Single submitter

Likely benign 15

c.1206+7A>G Multiple submitters
p.Ala1038= Single submitter
p.Ala2203= Single submitter
p.Ala2314= Single submitter
p.Ala2402= Single submitter
p.Ala393= Single submitter
p.Ala667Val Single submitter
p.Ala746= Single submitter
p.Asn1718Ser Single submitter
p.Asn2405= Single submitter
p.Gly1028= Single submitter
p.His188= Single submitter
p.Leu1992= Single submitter
p.Tyr70= Single submitter
p.Leu1716Val No assertion criteria TLN1-related disorder

Uncertain significance 226

p.Ala1103Thr Single submitter ⚠
p.Ala1110Thr Single submitter ⚠
p.Ala1125Val Single submitter ⚠
p.Ala1134Asp Single submitter ⚠
p.Ala1139Ser Single submitter ⚠
p.Ala1169Gly Single submitter ⚠
p.Ala1169Val Single submitter ⚠
p.Ala1172Glu Single submitter ⚠
p.Ala1440Val Single submitter
p.Ala1473Ser Single submitter ⚠
p.Ala1545Ser Single submitter ⚠
p.Ala1619Val Single submitter ⚠
p.Ala1621Ser Single submitter ⚠
p.Ala1682Ser Single submitter ⚠
p.Ala1722Gly Single submitter ⚠
p.Ala1779Thr Single submitter ⚠
p.Ala1790Pro Single submitter ⚠
p.Ala1795Ser Single submitter ⚠
p.Ala1817Ser Single submitter ⚠
p.Ala1999Thr Single submitter ⚠
p.Ala2045Val Single submitter ⚠
p.Ala2083Thr Single submitter ⚠
p.Ala2187Ser Single submitter ⚠
p.Ala2523Gly Single submitter ⚠
p.Ala471Thr Single submitter ⚠
p.Ala494Thr Single submitter ⚠
p.Ala552Gly Single submitter ⚠
p.Ala572Thr Single submitter ⚠
p.Ala618Pro Single submitter ⚠
p.Ala640Thr Single submitter
p.Arg1184Trp Single submitter
p.Arg1214Thr Single submitter ⚠
p.Arg1222Gln Single submitter ⚠
p.Arg1515Cys Single submitter ⚠
p.Arg1515His Single submitter ⚠
p.Arg153Ter Single submitter
p.Arg1593Gln Single submitter ⚠
p.Arg1593Trp Single submitter ⚠
p.Arg1618Gln Single submitter ⚠
p.Arg1625Gln Single submitter ⚠
p.Arg1625Trp Single submitter ⚠
p.Arg1673Gln Single submitter ⚠
p.Arg1721Trp Single submitter ⚠
p.Arg178Gly Single submitter ⚠
p.Arg1895Cys Single submitter ⚠
p.Arg1895His Single submitter ⚠
p.Arg1919Gln Single submitter ⚠
p.Arg1955Gln Single submitter
p.Arg1973Cys Single submitter
p.Arg2006His Single submitter ⚠
p.Arg2154Gln Single submitter ⚠
p.Arg2177Gly Single submitter ⚠
p.Arg2209His Single submitter ⚠
p.Arg2210Cys Single submitter ⚠
p.Arg2217Trp Single submitter ⚠
p.Arg2233Gln Single submitter ⚠
p.Arg2235Gln Single submitter ⚠
p.Arg2241Gln Single submitter ⚠
p.Arg2241Trp Single submitter ⚠
p.Arg2275Cys Single submitter ⚠
p.Arg2526Gln Single submitter ⚠
p.Arg2538Gln Single submitter ⚠
p.Arg297Cys Single submitter ⚠
p.Arg33Cys Single submitter ⚠
p.Arg438Gln Single submitter ⚠
p.Arg438Trp Single submitter ⚠
p.Arg454His Single submitter ⚠
p.Arg482Gln Single submitter ⚠
p.Arg624Cys Single submitter ⚠
p.Arg624Leu Single submitter ⚠
p.Arg765Gln Single submitter ⚠
p.Arg797His Single submitter ⚠
p.Arg827Cys Single submitter ⚠
p.Arg889Gln Single submitter ⚠
p.Asn1059Ser Single submitter ⚠
p.Asn1453Ser Single submitter ⚠
p.Asn1554Ser Single submitter ⚠
p.Asn1887His Single submitter ⚠
p.Asn1909Thr Single submitter ⚠
p.Asn2124Ser Single submitter ⚠
p.Asn2194Ile Single submitter
p.Asn2245His Single submitter ⚠
p.Asn2405Ser Single submitter ⚠
p.Asn2469Tyr Single submitter ⚠
p.Asn251Lys Single submitter ⚠
p.Asn251Ser Single submitter ⚠
p.Asn437Ser Single submitter ⚠
p.Asn838Ser Single submitter ⚠
p.Asp154Glu Single submitter ⚠
p.Asp1626Val Single submitter ⚠
p.Asp1839Gly Single submitter ⚠
p.Asp1852Gly Single submitter ⚠
p.Asp2386Asn Single submitter ⚠
p.Asp264Val Single submitter ⚠
p.Asp515Asn Single submitter ⚠
p.Cys1045Phe Single submitter ⚠
p.Cys1087Tyr Single submitter ⚠
p.Cys2196Arg Single submitter
p.Gln1757Arg Single submitter ⚠
p.Gln1888Glu Single submitter ⚠
p.Gln1888Pro Single submitter ⚠
p.Gln1976Pro Single submitter ⚠
p.Gln244Glu Single submitter ⚠
p.Gln472Arg Single submitter ⚠
p.Gln492Lys Single submitter ⚠
p.Gln635Lys Single submitter
p.Gln670Arg Single submitter ⚠
p.Gln85Glu Single submitter ⚠
p.Glu1180Asp Single submitter ⚠
p.Glu1723Lys Single submitter ⚠
p.Glu1739Val Single submitter ⚠
p.Glu1805Lys Single submitter ⚠
p.Glu1816Lys Single submitter ⚠
p.Glu186Gln Single submitter ⚠
p.Glu189Lys Single submitter ⚠
p.Glu2199Asp Single submitter ⚠
p.Glu237Lys Single submitter
p.Glu2451Gln Single submitter ⚠
p.Glu416Lys Single submitter ⚠
p.Glu657Asp Single submitter
p.Gly1611Arg Single submitter ⚠
p.Gly177Ser Single submitter ⚠
p.Gly2271Glu Single submitter ⚠
p.Gly2460Ser Single submitter ⚠
p.Gly309Ser Single submitter ⚠
p.Gly466Asp Single submitter ⚠
p.Gly603Ser Single submitter ⚠
p.Gly791Arg Single submitter ⚠
p.His124Arg Single submitter
p.His2272Leu Single submitter ⚠
p.His2418Arg Single submitter ⚠
p.His283Tyr Single submitter ⚠
p.His663Arg Single submitter ⚠
p.His784Tyr Single submitter ⚠
p.Ile1102Asn Single submitter ⚠
p.Ile1988Val Single submitter
p.Ile2055Val Single submitter ⚠
p.Ile2095Thr Single submitter ⚠
p.Ile2153Met Single submitter ⚠
p.Ile2212Val Single submitter ⚠
p.Ile580Val Single submitter
p.Ile60Met Single submitter
p.Ile60Val Single submitter ⚠
p.Ile655Thr Single submitter ⚠
p.Leu1185Phe Single submitter ⚠
p.Leu1703Phe Single submitter ⚠
p.Leu1741Phe Single submitter ⚠
p.Leu1930Val Single submitter ⚠
p.Leu2283His Single submitter ⚠
p.Leu51Met Single submitter ⚠
p.Leu638Val Single submitter ⚠
p.Leu736Pro Single submitter ⚠
p.Lys1431Glu Single submitter ⚠
p.Lys2043Glu Single submitter ⚠
p.Lys2104Arg Single submitter ⚠
p.Lys2115Glu Single submitter ⚠
p.Lys2220Glu Single submitter ⚠
p.Lys57Arg Single submitter ⚠
p.Lys861Arg Single submitter ⚠
p.Lys910Arg Single submitter ⚠
p.Met134Val Single submitter ⚠
p.Met1843Val Single submitter ⚠
p.Met2121Val Single submitter ⚠
p.Met2215Val Single submitter
p.Met24Val Single submitter ⚠
p.Met289Arg Single submitter ⚠
p.Met503Val Single submitter ⚠
p.Met79Val Single submitter ⚠
p.Phe1467Leu Single submitter ⚠
p.Phe280Leu Single submitter ⚠
p.Phe463Ile Single submitter ⚠
p.Pro1420Thr Single submitter ⚠
p.Pro1484Arg Single submitter ⚠
p.Pro1484Ser Single submitter ⚠
p.Pro1590Arg Single submitter ⚠
p.Pro1842Ser Single submitter ⚠
p.Pro2163Leu Single submitter ⚠
p.Pro37Ala Single submitter ⚠
p.Pro40Ser Single submitter ⚠
p.Pro470Ala Single submitter ⚠
p.Pro725Ser Single submitter ⚠
p.Pro87Thr Single submitter ⚠
p.Pro942His Single submitter ⚠
p.Ser1052Pro Single submitter ⚠
p.Ser1164Thr Single submitter ⚠
p.Ser1629fs Single submitter
p.Ser1643Ala Single submitter ⚠
p.Ser1940Asn Single submitter ⚠
p.Ser22Phe Single submitter ⚠
p.Ser2420Asn Single submitter ⚠
p.Ser417Pro Single submitter ⚠
p.Ser425Phe Single submitter
p.Ser658Asn Single submitter ⚠
p.Ser696Leu Single submitter ⚠
p.Ser848Arg Single submitter ⚠
p.Thr1036Met Single submitter ⚠
p.Thr109Ala Single submitter ⚠
p.Thr1663Met Single submitter ⚠
p.Thr1856Ile Single submitter ⚠
p.Thr1867Ile Single submitter ⚠
p.Thr190Met Single submitter ⚠
p.Thr1946Ile Single submitter
p.Thr2011Ser Single submitter ⚠
p.Thr551Ile Single submitter ⚠
p.Thr554Ala Single submitter ⚠
p.Thr726fs Single submitter
p.Thr758Ile Single submitter
p.Tyr1445His Single submitter ⚠
p.Tyr377Cys Single submitter ⚠
p.Val1001Met Single submitter
p.Val1067Leu Single submitter ⚠
p.Val1526Ile Single submitter ⚠
p.Val1823Ile Single submitter ⚠
p.Val1824Met Single submitter ⚠
p.Val185Leu Single submitter
p.Val2025Leu Single submitter ⚠
p.Val2032Gly Single submitter ⚠
p.Val2034Gly Single submitter ⚠
p.Val2052Met Single submitter ⚠
p.Val2296Ile Single submitter ⚠
p.Val271Met Single submitter ⚠
p.Val619Ala Single submitter ⚠
p.Val702Ala Single submitter ⚠
p.Val747Met Single submitter ⚠
p.Val785Ala Single submitter ⚠
p.Val808Ile Single submitter ⚠