COL28A1 — 193 ClinVar variants

All ClinVar germline COL28A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 179 flagged for review →

3 Benign · 11 Likely benign · 179 Uncertain significance

Full COL28A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 179

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 90

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

Predictors split 89

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

All COL28A1 variants

Benign 3

c.2287-3T>C Single submitter
p.Gln80= Single submitter
p.Gln882Leu Single submitter

Likely benign 11

p.Arg237His Single submitter
p.Arg626Gln Single submitter
p.Arg827Gln Single submitter
p.Asn273= Single submitter
p.Glu1031Lys Single submitter
p.Ile437Leu Single submitter
p.Ile463Val Single submitter
p.Leu158= Single submitter
p.Pro449= Single submitter
p.Thr925Ile Single submitter
p.Val989Ile Single submitter

Uncertain significance 179

p.Ala1075Asp Single submitter ⚠
p.Ala274Thr Single submitter ⚠
p.Ala535Gly Single submitter ⚠
p.Ala631Asp Single submitter ⚠
p.Ala825Val Single submitter ⚠
p.Ala864Ser Single submitter ⚠
p.Arg1087Gln Single submitter ⚠
p.Arg149Ser Single submitter ⚠
p.Arg200Cys Single submitter ⚠
p.Arg237Cys Single submitter ⚠
p.Arg297Cys Single submitter ⚠
p.Arg297Pro Single submitter ⚠
p.Arg391His Single submitter ⚠
p.Arg492Gln Single submitter ⚠
p.Arg658Cys Single submitter ⚠
p.Arg658His Single submitter ⚠
p.Arg681Gln Single submitter ⚠
p.Arg681Leu Single submitter ⚠
p.Arg681Trp Single submitter ⚠
p.Arg836Cys Single submitter ⚠
p.Arg836His Single submitter ⚠
p.Asn139Ser Single submitter ⚠
p.Asn867Ile Single submitter ⚠
p.Asn867Ser Single submitter ⚠
p.Asp1069Val Single submitter ⚠
p.Asp164Asn Single submitter ⚠
p.Asp170Asn Single submitter ⚠
p.Asp308His Single submitter ⚠
p.Asp39Gly Single submitter ⚠
p.Asp637Gly Single submitter ⚠
p.Asp804Asn Single submitter ⚠
p.Asp866Asn Single submitter ⚠
p.Cys1081Arg Single submitter ⚠
p.Gln275His Single submitter ⚠
p.Gln41Arg Single submitter ⚠
p.Gln715Glu Single submitter ⚠
p.Gln734Arg Single submitter ⚠
p.Gln998Leu Single submitter ⚠
p.Glu1031Asp Single submitter ⚠
p.Glu1120Asp Single submitter ⚠
p.Glu399Val Single submitter ⚠
p.Glu413Gln Single submitter ⚠
p.Glu553Lys Single submitter ⚠
p.Glu847Lys Single submitter ⚠
p.Gly1066Glu Single submitter ⚠
p.Gly245Glu Single submitter ⚠
p.Gly283Arg Single submitter ⚠
p.Gly301Ser Single submitter ⚠
p.Gly352Asp Single submitter ⚠
p.Gly372Ala Single submitter ⚠
p.Gly404Arg Single submitter ⚠
p.Gly406Arg Single submitter ⚠
p.Gly415Arg Single submitter ⚠
p.Gly415Asp Single submitter ⚠
p.Gly435Val Single submitter ⚠
p.Gly498Glu Single submitter ⚠
p.Gly560Arg Single submitter ⚠
p.Gly592Ala Single submitter ⚠
p.Gly595Val Single submitter ⚠
p.Gly610Arg Single submitter ⚠
p.Gly627Arg Single submitter ⚠
p.Gly630Val Single submitter ⚠
p.Gly679Arg Single submitter ⚠
p.Gly687Glu Single submitter ⚠
p.Gly702Cys Single submitter ⚠
p.Gly713Ala Single submitter ⚠
p.Gly719Ala Single submitter ⚠
p.Gly722Asp Single submitter ⚠
p.Gly730Val Single submitter ⚠
p.Gly751Arg Single submitter ⚠
p.Gly787Asp Single submitter ⚠
p.Gly872Arg Single submitter ⚠
p.His256Arg Single submitter ⚠
p.Ile104Val Single submitter ⚠
p.Ile186Ser Single submitter ⚠
p.Ile305Thr Single submitter ⚠
p.Ile430Val Single submitter ⚠
p.Ile459Leu Single submitter ⚠
p.Ile497Thr Single submitter ⚠
p.Ile509Thr Single submitter ⚠
p.Ile605Val Single submitter ⚠
p.Ile753Met Single submitter ⚠
p.Ile753Val Single submitter ⚠
p.Ile778Ser Single submitter ⚠
p.Ile782Thr Single submitter ⚠
p.Ile91Thr Single submitter ⚠
p.Ile929Met Single submitter ⚠
p.Leu1008Val Single submitter ⚠
p.Leu190Val Single submitter ⚠
p.Leu199Pro Single submitter ⚠
p.Leu34Pro Single submitter ⚠
p.Leu648Ser Single submitter ⚠
p.Leu764Val Single submitter ⚠
p.Leu830Val Single submitter ⚠
p.Leu852Ser Single submitter ⚠
p.Leu863Phe Single submitter ⚠
p.Leu881Val Single submitter ⚠
p.Leu915Pro Single submitter ⚠
p.Lys122Thr Single submitter ⚠
p.Lys234Gln Single submitter ⚠
p.Lys26Glu Single submitter ⚠
p.Lys480Glu Single submitter ⚠
p.Lys550Glu Single submitter ⚠
p.Lys750Thr Single submitter ⚠
p.Lys780Arg Single submitter ⚠
p.Lys822Asn Single submitter ⚠
p.Lys862Gln Single submitter ⚠
p.Lys975Glu Single submitter ⚠
p.Met159Ile Single submitter ⚠
p.Met655Arg Single submitter ⚠
p.Met727Ile Single submitter ⚠
p.Met824Val Single submitter ⚠
p.Met949Val Single submitter ⚠
p.Phe1112Leu Single submitter ⚠
p.Phe820Ser Single submitter ⚠
p.Pro1038Ser Single submitter ⚠
p.Pro210Arg Single submitter ⚠
p.Pro259Ser Single submitter ⚠
p.Pro271Ala Single submitter ⚠
p.Pro271Leu Single submitter ⚠
p.Pro317Gln Single submitter ⚠
p.Pro374Leu Single submitter ⚠
p.Pro377Ala Single submitter ⚠
p.Pro390Ser Single submitter ⚠
p.Pro403Arg Single submitter ⚠
p.Pro403Ser Single submitter ⚠
p.Pro410Leu Single submitter ⚠
p.Pro439Ser Single submitter ⚠
p.Pro449Thr Single submitter ⚠
p.Pro466Arg Single submitter ⚠
p.Pro533Leu Single submitter ⚠
p.Pro549Ala Single submitter ⚠
p.Pro591Ser Single submitter ⚠
p.Pro591Thr Single submitter ⚠
p.Pro619Ala Single submitter ⚠
p.Pro632Ala Single submitter ⚠
p.Pro674Leu Single submitter ⚠
p.Pro680Arg Single submitter ⚠
p.Pro698Leu Single submitter ⚠
p.Pro704Arg Single submitter ⚠
p.Pro704Ser Single submitter ⚠
p.Pro721Ser Single submitter ⚠
p.Pro723Arg Single submitter ⚠
p.Pro723Leu Single submitter ⚠
p.Pro759Ala Single submitter ⚠
p.Pro767Leu Single submitter ⚠
p.Pro796Leu Single submitter ⚠
p.Pro83Ser Single submitter ⚠
p.Pro997Ser Single submitter ⚠
p.Ser1011Ala Single submitter ⚠
p.Ser1114Arg Single submitter ⚠
p.Ser138Phe Single submitter ⚠
p.Ser73Arg Single submitter ⚠
p.Ser843Asn Single submitter ⚠
p.Ser994Thr Single submitter ⚠
p.Ser995Leu Single submitter ⚠
p.Ser99Asn Single submitter ⚠
p.Thr1026Ile Single submitter ⚠
p.Thr1039Lys Single submitter ⚠
p.Thr1039Met Single submitter ⚠
p.Thr1047Ala Single submitter ⚠
p.Thr1047Ile Single submitter ⚠
p.Thr1054Pro Single submitter ⚠
p.Thr1062Ile Single submitter ⚠
p.Thr116Ile Single submitter ⚠
p.Thr141Ala Single submitter ⚠
p.Thr82Ile Single submitter ⚠
p.Thr967Ala Single submitter ⚠
p.Thr967Ser Single submitter ⚠
p.Tyr706Cys Single submitter ⚠
p.Tyr960Asp Single submitter ⚠
p.Tyr987Cys Single submitter ⚠
p.Val193Ile Single submitter ⚠
p.Val53Leu Single submitter ⚠
p.Val53Met Single submitter ⚠
p.Val809Met Single submitter ⚠
p.Val865Met Single submitter ⚠
p.Val901Asp Single submitter ⚠
p.Val989Gly Single submitter ⚠