ERLIN1 — 169 ClinVar variants
All ClinVar germline ERLIN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 66 flagged for review →
3 Pathogenic · 2 Likely pathogenic · 5 Conflicting · 18 Benign · 3 Benign/Likely benign · 64 Likely benign · 74 Uncertain significance
Full ERLIN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 66
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 35
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ERLIN1 p.Ala23Thr
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 62
-
ERLIN1 p.Ala254Ser
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 62
-
ERLIN1 p.His26Asp
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 62
-
ERLIN1 p.Ile223Thr
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 62
-
ERLIN1 p.Lys151Glu
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 62
-
ERLIN1 p.Lys286Gln
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 62
- ERLIN1 p.Ala198Gly Uncertain significance Single submitter
- ERLIN1 p.Ala34Gly Uncertain significance Single submitter
-
ERLIN1 p.Arg230Gln
Uncertain significance
Single submitter
hereditary spastic paraplegia 62
-
ERLIN1 p.Arg90Leu
Uncertain significance
Single submitter
hereditary spastic paraplegia 62
-
ERLIN1 p.Asn339Asp
Uncertain significance
Single submitter
hereditary spastic paraplegia 62
-
ERLIN1 p.Asn95Ser
Uncertain significance
Single submitter
hereditary spastic paraplegia 62
- ERLIN1 p.Asp157Gly Uncertain significance Single submitter
- ERLIN1 p.His52Arg Uncertain significance Single submitter
- ERLIN1 p.Ile167Thr Uncertain significance Single submitter
-
ERLIN1 p.Ile303Val
Uncertain significance
Single submitter
hereditary spastic paraplegia 62
- ERLIN1 p.Ile91Met Uncertain significance Single submitter
- ERLIN1 p.Leu283Pro Uncertain significance Single submitter
-
ERLIN1 p.Lys203Asn
Uncertain significance
Single submitter
hereditary spastic paraplegia 62
-
ERLIN1 p.Lys238Ile
Uncertain significance
Single submitter
hereditary spastic paraplegia 62
-
ERLIN1 p.Met54Ile
Uncertain significance
Single submitter
hereditary spastic paraplegia 62
- ERLIN1 p.Phe57Leu Uncertain significance Single submitter
- ERLIN1 p.Pro56Leu Uncertain significance Single submitter
-
ERLIN1 p.Ser346Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia 62
-
ERLIN1 p.Ser346Asn
Uncertain significance
Single submitter
hereditary spastic paraplegia 62
- ERLIN1 p.Ser346Thr Uncertain significance Single submitter
- ERLIN1 p.Thr116Ile Uncertain significance Single submitter
- ERLIN1 p.Thr173Ala Uncertain significance Single submitter
- ERLIN1 p.Thr279Ile Uncertain significance Single submitter
- ERLIN1 p.Thr59Ala Uncertain significance Single submitter
- ERLIN1 p.Tyr288His Uncertain significance Single submitter
- ERLIN1 p.Tyr37Cys Uncertain significance Single submitter
- ERLIN1 p.Tyr51Cys Uncertain significance Single submitter
-
ERLIN1 p.Val106Ala
Uncertain significance
Single submitter
hereditary spastic paraplegia 62
-
ERLIN1 p.Val340Ile
Uncertain significance
Single submitter
hereditary spastic paraplegia 62
Predictors split 31
The independent predictors disagree with each other — read with care.
-
ERLIN1 p.Ala258Val
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 62
-
ERLIN1 p.Ala292Ser
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 62
-
ERLIN1 p.Arg230Trp
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 62
-
ERLIN1 p.Arg243His
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 62
-
ERLIN1 p.Ile291Val
Benign
Multiple submitters
hereditary spastic paraplegia 62
-
ERLIN1 p.Met54Val
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 62
-
ERLIN1 p.Thr166Ala
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 62
-
ERLIN1 p.Thr60Ala
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 62
-
ERLIN1 p.Tyr298Cys
Uncertain significance
Multiple submitters
hereditary spastic paraplegia
-
ERLIN1 p.Ala267Thr
Uncertain significance
Single submitter
hereditary spastic paraplegia 62
- ERLIN1 p.Arg243Leu Uncertain significance Single submitter
-
ERLIN1 p.Arg90Gln
Uncertain significance
Single submitter
hereditary spastic paraplegia 62
- ERLIN1 p.Asn159Ile Uncertain significance Single submitter
-
ERLIN1 p.Asp157Glu
Uncertain significance
Single submitter
hereditary spastic paraplegia 62
- ERLIN1 p.Asp309Ala Uncertain significance Single submitter
- ERLIN1 p.Gln5Pro Uncertain significance Single submitter
- ERLIN1 p.Glu239Ala Uncertain significance Single submitter
-
ERLIN1 p.Ile218Thr
Uncertain significance
Single submitter
hereditary spastic paraplegia 62
-
ERLIN1 p.Ile247Met
Uncertain significance
Single submitter
hereditary spastic paraplegia 62
-
ERLIN1 p.Lys27Glu
Uncertain significance
Single submitter
hereditary spastic paraplegia 62
- ERLIN1 p.Met306Val Uncertain significance Single submitter
- ERLIN1 p.Pro163Ser Uncertain significance Single submitter
- ERLIN1 p.Pro280Leu Uncertain significance Single submitter
-
ERLIN1 p.Ser293Tyr
Uncertain significance
Single submitter
hereditary spastic paraplegia 62
- ERLIN1 p.Ser295Asn Uncertain significance Single submitter
- ERLIN1 p.Ser329Cys Uncertain significance Single submitter
- ERLIN1 p.Ser329Phe Uncertain significance Single submitter
-
ERLIN1 p.Thr60Met
Uncertain significance
Single submitter
hereditary spastic paraplegia 62
- ERLIN1 p.Val10Met Uncertain significance Single submitter
-
ERLIN1 p.Val204Ile
Uncertain significance
Single submitter
hereditary spastic paraplegia 62
- ERLIN1 p.Val205Ala Uncertain significance Single submitter
All ERLIN1 variants
Pathogenic 3
- c.196-1G>A Single submitter hereditary spastic paraplegia 62
- p.Val94Ala Single submitter juvenile amyotrophic lateral sclerosis
- p.Gly50Val No assertion criteria hereditary spastic paraplegia 62
Likely pathogenic 2
- p.Ile91fs Single submitter hereditary spastic paraplegia 62
- p.Phe252fs Single submitter hereditary spastic paraplegia
Conflicting classifications of pathogenicity 5
- c.195+3G>A Single submitter hereditary spastic paraplegia
- p.Ala254= Single submitter hereditary spastic paraplegia 62
- p.Arg255Ter Single submitter hereditary spastic paraplegia 62
- p.Glu263= Single submitter hereditary spastic paraplegia 62
- p.Ile105= Single submitter hereditary spastic paraplegia 62
Benign 18
- c.242+86A>G Multiple submitters
- c.243-18T>C Multiple submitters hereditary spastic paraplegia 62
- c.243-19T>G Multiple submitters hereditary spastic paraplegia 62
- c.243-70C>T Multiple submitters
- c.563+58T>C Multiple submitters
- c.826-85G>A Multiple submitters
- p.Ile291Val Multiple submitters hereditary spastic paraplegia 62 ⚠
- c.114-129C>T Single submitter
- c.196-226dup Single submitter
- c.242+244T>C Single submitter
- c.243-183A>T Single submitter
- c.431-197G>A Single submitter
- c.431-49dup Single submitter
- c.505-305C>T Single submitter
- c.563+113del Single submitter
- c.656-20_656-18del Single submitter hereditary spastic paraplegia 62
- c.745+273G>A Single submitter
- c.825+31dup Single submitter
Benign/Likely benign 3
Likely benign 64
- p.Leu196= Multiple submitters hereditary spastic paraplegia 62
- c.113+14G>T Single submitter hereditary spastic paraplegia 62
- c.113+16A>G Single submitter hereditary spastic paraplegia 62
- c.113+20A>G Single submitter hereditary spastic paraplegia 62
- c.114-16A>G Single submitter hereditary spastic paraplegia 62
- c.114-17G>A Single submitter hereditary spastic paraplegia 62
- c.114-19T>A Single submitter hereditary spastic paraplegia 62
- c.195+11C>G Single submitter hereditary spastic paraplegia 62
- c.195+12C>G Single submitter hereditary spastic paraplegia 62
- c.196-212del Single submitter
- c.196-4C>G Single submitter hereditary spastic paraplegia 62
- c.242+20A>G Single submitter hereditary spastic paraplegia 62
- c.243-124C>T Single submitter
- c.243-17T>C Single submitter hereditary spastic paraplegia 62
- c.243-5T>C Single submitter hereditary spastic paraplegia 62
- c.430+15T>C Single submitter hereditary spastic paraplegia 62
- c.430+16C>G Single submitter hereditary spastic paraplegia 62
- c.430+20T>C Single submitter hereditary spastic paraplegia 62
- c.431-13G>C Single submitter hereditary spastic paraplegia 62
- c.504+13C>T Single submitter hereditary spastic paraplegia 62
- c.504+8C>A Single submitter hereditary spastic paraplegia 62
- c.564-12T>A Single submitter hereditary spastic paraplegia 62
- c.564-20_564-18del Single submitter hereditary spastic paraplegia 62
- c.564-20T>C Single submitter hereditary spastic paraplegia 62
- c.655+17G>A Single submitter hereditary spastic paraplegia 62
- c.656-16T>C Single submitter hereditary spastic paraplegia 62
- c.656-9T>C Single submitter hereditary spastic paraplegia 62
- c.745+10G>C Single submitter hereditary spastic paraplegia 62
- c.745+18G>A Single submitter hereditary spastic paraplegia 62
- c.746-9A>G Single submitter hereditary spastic paraplegia 62
- c.825+191G>A Single submitter
- c.825+73A>G Single submitter
- c.825+8G>A Single submitter hereditary spastic paraplegia 62
- c.826-10T>C Single submitter hereditary spastic paraplegia 62
- c.826-157G>A Single submitter
- c.826-237del Single submitter
- c.826-7del Single submitter hereditary spastic paraplegia 62
- c.-385G>C Single submitter
- p.Ala258= Single submitter hereditary spastic paraplegia 62
- p.Ala271= Single submitter hereditary spastic paraplegia 62
- p.Ala41= Single submitter hereditary spastic paraplegia 62
- p.Ala6= Single submitter hereditary spastic paraplegia 62
- p.Asn75= Single submitter hereditary spastic paraplegia 62
- p.Gln342= Single submitter hereditary spastic paraplegia 62
- p.Gln69= Single submitter hereditary spastic paraplegia 62
- p.Gly322= Single submitter hereditary spastic paraplegia 62
- p.Gly79= Single submitter hereditary spastic paraplegia 62
- p.His124= Single submitter hereditary spastic paraplegia 62
- p.Ile223= Single submitter hereditary spastic paraplegia 62
- p.Ile247= Single submitter hereditary spastic paraplegia 62
- p.Leu150= Single submitter hereditary spastic paraplegia 62
- p.Leu160= Single submitter hereditary spastic paraplegia 62
- p.Leu20= Single submitter hereditary spastic paraplegia 62
- p.Leu285= Single submitter hereditary spastic paraplegia 62
- p.Leu9= Single submitter hereditary spastic paraplegia 62
- p.Pro280= Single submitter hereditary spastic paraplegia 62
- p.Ser24= Single submitter hereditary spastic paraplegia 62
- p.Thr272= Single submitter hereditary spastic paraplegia 62
- p.Thr59= Single submitter hereditary spastic paraplegia 62
- p.Thr66= Single submitter hereditary spastic paraplegia 62
- p.Tyr270= Single submitter hereditary spastic paraplegia 62
- p.Val102= Single submitter
- p.Val226= Single submitter hereditary spastic paraplegia 62
- p.Ile25= No assertion criteria ERLIN1-related disorder
Uncertain significance 74
- c.430+3_430+6del Multiple submitters hereditary spastic paraplegia 62
- p.Ala23Thr Multiple submitters hereditary spastic paraplegia 62 ⚠
- p.Ala254Ser Multiple submitters hereditary spastic paraplegia 62 ⚠
- p.Ala258Val Multiple submitters hereditary spastic paraplegia 62 ⚠
- p.Ala292Ser Multiple submitters hereditary spastic paraplegia 62 ⚠
- p.Arg230Trp Multiple submitters hereditary spastic paraplegia 62 ⚠
- p.Arg243His Multiple submitters hereditary spastic paraplegia 62 ⚠
- p.His26Asp Multiple submitters hereditary spastic paraplegia 62 ⚠
- p.Ile223Thr Multiple submitters hereditary spastic paraplegia 62 ⚠
- p.Lys151Glu Multiple submitters hereditary spastic paraplegia 62 ⚠
- p.Lys286Gln Multiple submitters hereditary spastic paraplegia 62 ⚠
- p.Met54Val Multiple submitters hereditary spastic paraplegia 62 ⚠
- p.Thr166Ala Multiple submitters hereditary spastic paraplegia 62 ⚠
- p.Thr60Ala Multiple submitters hereditary spastic paraplegia 62 ⚠
- p.Tyr298Cys Multiple submitters hereditary spastic paraplegia ⚠
- c.242+3A>C Single submitter hereditary spastic paraplegia 62
- c.304+2T>C Single submitter hereditary spastic paraplegia 62
- c.305-7C>T Single submitter
- c.430+4A>T Single submitter hereditary spastic paraplegia 62
- c.563+1G>A Single submitter hereditary spastic paraplegia 62
- c.745+5A>G Single submitter hereditary spastic paraplegia 62
- c.*1247T>C Single submitter hereditary spastic paraplegia
- c.*1251A>G Single submitter hereditary spastic paraplegia
- p.Ala198Gly Single submitter ⚠
- p.Ala267Thr Single submitter hereditary spastic paraplegia 62 ⚠
- p.Ala34Gly Single submitter ⚠
- p.Arg230Gln Single submitter hereditary spastic paraplegia 62 ⚠
- p.Arg243Leu Single submitter ⚠
- p.Arg90Gln Single submitter hereditary spastic paraplegia 62 ⚠
- p.Arg90Leu Single submitter hereditary spastic paraplegia 62 ⚠
- p.Asn159Ile Single submitter ⚠
- p.Asn339Asp Single submitter hereditary spastic paraplegia 62 ⚠
- p.Asn95Ser Single submitter hereditary spastic paraplegia 62 ⚠
- p.Asp157Glu Single submitter hereditary spastic paraplegia 62 ⚠
- p.Asp157Gly Single submitter ⚠
- p.Asp309Ala Single submitter ⚠
- p.Gln5Pro Single submitter ⚠
- p.Glu239Ala Single submitter ⚠
- p.His52Arg Single submitter ⚠
- p.Ile167Thr Single submitter ⚠
- p.Ile218Thr Single submitter hereditary spastic paraplegia 62 ⚠
- p.Ile247Met Single submitter hereditary spastic paraplegia 62 ⚠
- p.Ile303Val Single submitter hereditary spastic paraplegia 62 ⚠
- p.Ile91Met Single submitter ⚠
- p.Leu283Pro Single submitter ⚠
- p.Lys203Asn Single submitter hereditary spastic paraplegia 62 ⚠
- p.Lys238Ile Single submitter hereditary spastic paraplegia 62 ⚠
- p.Lys27Glu Single submitter hereditary spastic paraplegia 62 ⚠
- p.Met306Val Single submitter ⚠
- p.Met54Ile Single submitter hereditary spastic paraplegia 62 ⚠
- p.Phe57Leu Single submitter ⚠
- p.Pro163Ser Single submitter ⚠
- p.Pro280Leu Single submitter ⚠
- p.Pro56Leu Single submitter ⚠
- p.Ser293Tyr Single submitter hereditary spastic paraplegia 62 ⚠
- p.Ser295Asn Single submitter ⚠
- p.Ser329Cys Single submitter ⚠
- p.Ser329Phe Single submitter ⚠
- p.Ser346Arg Single submitter hereditary spastic paraplegia 62 ⚠
- p.Ser346Asn Single submitter hereditary spastic paraplegia 62 ⚠
- p.Ser346Thr Single submitter ⚠
- p.Thr116Ile Single submitter ⚠
- p.Thr173Ala Single submitter ⚠
- p.Thr279Ile Single submitter ⚠
- p.Thr59Ala Single submitter ⚠
- p.Thr60Met Single submitter hereditary spastic paraplegia 62 ⚠
- p.Tyr288His Single submitter ⚠
- p.Tyr37Cys Single submitter ⚠
- p.Tyr51Cys Single submitter ⚠
- p.Val106Ala Single submitter hereditary spastic paraplegia 62 ⚠
- p.Val10Met Single submitter ⚠
- p.Val204Ile Single submitter hereditary spastic paraplegia 62 ⚠
- p.Val205Ala Single submitter ⚠
- p.Val340Ile Single submitter hereditary spastic paraplegia 62 ⚠