ANPEP — 140 ClinVar variants

All ClinVar germline ANPEP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 116 flagged for review →

11 Benign · 2 Benign/Likely benign · 16 Likely benign · 111 Uncertain significance

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

⚑ Evidence disagreements 116

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 38

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

Predictors split 78

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

All ANPEP variants

Benign 11

c.1437+8C>G Multiple submitters
c.1437+9C>G Multiple submitters
p.Ala311Val Multiple submitters ⚠
p.Ala671= Multiple submitters
p.Glu770= Multiple submitters
p.Leu318= Multiple submitters
p.Phe811= Multiple submitters
p.Ser613= Multiple submitters
p.Thr321= Multiple submitters
c.1437+10G>A Single submitter
c.614+9C>T Single submitter

Benign/Likely benign 2

p.Leu100= Multiple submitters
p.Thr64= Multiple submitters

Likely benign 16

p.Ala422Gly Multiple submitters ⚠
p.Leu258Ile Multiple submitters ⚠
p.Ala53Thr Single submitter
p.Ala936= Single submitter
p.Arg592Lys Single submitter
p.Arg640Lys Single submitter ⚠
p.Asn868Ser Single submitter
p.Asp610Asn Single submitter
p.Glu769Lys Single submitter
p.Pro147Ala Single submitter
p.Ser415= Single submitter
p.Ser61Leu Single submitter ⚠
p.Tyr477= Single submitter
p.Val298= Single submitter
p.Val583Leu Single submitter
p.Val620Leu No assertion criteria ANPEP-related disorder

Uncertain significance 111

p.Ala116Val Single submitter ⚠
p.Ala28Ser Single submitter ⚠
p.Ala310Val Single submitter ⚠
p.Ala41Thr Single submitter ⚠
p.Ala425Val Single submitter ⚠
p.Ala524Ser Single submitter ⚠
p.Ala698Thr Single submitter ⚠
p.Ala70Val Single submitter ⚠
p.Ala756Val Single submitter ⚠
p.Ala800Thr Single submitter ⚠
p.Ala819Thr Single submitter ⚠
p.Ala936Gly Single submitter ⚠
p.Arg301Gln Single submitter ⚠
p.Arg363Gln Single submitter ⚠
p.Arg528Trp Single submitter ⚠
p.Arg711His Single submitter ⚠
p.Arg73His Single submitter ⚠
p.Arg829Pro Single submitter ⚠
p.Arg855Gln Single submitter ⚠
p.Arg908Gln Single submitter ⚠
p.Asn263Ser Single submitter ⚠
p.Asn319Thr Single submitter ⚠
p.Asn623Lys Single submitter ⚠
p.Asn633Lys Single submitter ⚠
p.Asn657Ser Single submitter ⚠
p.Asn782Ser Single submitter ⚠
p.Asn900Ile Single submitter ⚠
p.Asn925Lys Single submitter ⚠
p.Asp149Glu Single submitter ⚠
p.Asp288Asn Single submitter ⚠
p.Asp315Asn Single submitter ⚠
p.Asp433Glu Single submitter ⚠
p.Asp494Glu Single submitter ⚠
p.Asp66Glu Single submitter ⚠
p.Asp83Tyr Single submitter ⚠
p.Asp890Tyr Single submitter ⚠
p.Gln467His Single submitter ⚠
p.Gln510Arg Single submitter ⚠
p.Gln881His Single submitter ⚠
p.Glu636Lys Single submitter ⚠
p.Glu742Asp Single submitter ⚠
p.Glu753Lys Single submitter ⚠
p.Glu770Asp Single submitter ⚠
p.Gly314Asp Single submitter ⚠
p.Gly628Asp Single submitter ⚠
p.Gly774Ser Single submitter ⚠
p.Gly804Ala Single submitter ⚠
p.Gly929Ser Single submitter ⚠
p.Gly931Ser Single submitter ⚠
p.His239Tyr Single submitter ⚠
p.His331Arg Single submitter ⚠
p.His732Asn Single submitter ⚠
p.Ile122Met Single submitter ⚠
p.Ile122Thr Single submitter ⚠
p.Ile591Asn Single submitter ⚠
p.Ile662Val Single submitter ⚠
p.Ile840Asn Single submitter ⚠
p.Ile871Thr Single submitter ⚠
p.Ile948Met Single submitter ⚠
p.Leu246Pro Single submitter ⚠
p.Leu279Phe Single submitter ⚠
p.Leu318Pro Single submitter ⚠
p.Leu338Ile Single submitter ⚠
p.Leu407Val Single submitter ⚠
p.Leu561Val Single submitter ⚠
p.Leu646Met Single submitter ⚠
p.Lys219Met Single submitter ⚠
p.Met435Arg Single submitter ⚠
p.Met780Val Single submitter ⚠
p.Phe103Leu Single submitter ⚠
p.Pro148Thr Single submitter ⚠
p.Pro254Ala Single submitter ⚠
p.Pro257Thr Single submitter ⚠
p.Pro465Gln Single submitter ⚠
p.Pro51Leu Single submitter ⚠
p.Pro550Leu Single submitter ⚠
p.Pro570Ala Single submitter ⚠
p.Pro570Ser Single submitter ⚠
p.Pro790Arg Single submitter ⚠
p.Pro851Ser Single submitter ⚠
p.Pro91Leu Single submitter ⚠
p.Pro95Thr Single submitter ⚠
p.Ser106Phe Single submitter ⚠
p.Ser376Arg Single submitter ⚠
p.Ser452Pro Single submitter ⚠
p.Ser460Leu Single submitter ⚠
p.Ser895Leu Single submitter ⚠
p.Ser8Phe Single submitter ⚠
p.Thr50Asn Single submitter ⚠
p.Thr553Met Single submitter ⚠
p.Thr627Met Single submitter ⚠
p.Thr79Arg Single submitter ⚠
p.Thr79Met Single submitter ⚠
p.Thr88Met Single submitter ⚠
p.Thr88Ser Single submitter ⚠
p.Thr934Asn Single submitter ⚠
p.Trp357Cys Single submitter ⚠
p.Trp357Gly Single submitter ⚠
p.Tyr316His Single submitter ⚠
p.Tyr424Cys Single submitter ⚠
p.Tyr441Cys Single submitter ⚠
p.Val109Ile Single submitter ⚠
p.Val142Met Single submitter ⚠
p.Val23Ala Single submitter ⚠
p.Val23Met Single submitter ⚠
p.Val290Met Single submitter ⚠
p.Val320Met Single submitter ⚠
p.Val417Met Single submitter ⚠
p.Val495Ile Single submitter ⚠
p.Val876Ile Single submitter ⚠
p.Val880Leu Single submitter ⚠