ENGASE — 144 ClinVar variants

All ClinVar germline ENGASE variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 133 flagged for review →

3 Benign · 10 Likely benign · 131 Uncertain significance

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

⚑ Evidence disagreements 133

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 71

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

Predictors split 62

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

All ENGASE variants

Benign 3

p.Arg555His Multiple submitters
p.Asp130= Single submitter
p.Val169Ile Single submitter ⚠

Likely benign 10

p.Arg219Gln Single submitter
p.Arg261Gln Single submitter
p.Arg446Gln Single submitter
p.Gly519Ser Single submitter
p.Ile663Val Single submitter
p.Lys372= Single submitter
p.Pro173= Single submitter
p.Ser632= Single submitter
p.Val160Ile Single submitter
p.Val467Ile Single submitter ⚠

Uncertain significance 131

p.Ala107Val Single submitter ⚠
p.Ala217Asp Single submitter ⚠
p.Ala244Val Single submitter ⚠
p.Ala24Gly Single submitter ⚠
p.Ala420Val Single submitter ⚠
p.Ala692Thr Single submitter ⚠
p.Ala95Val Single submitter ⚠
p.Arg114His Single submitter ⚠
p.Arg124Trp Single submitter ⚠
p.Arg14Gln Single submitter ⚠
p.Arg211Cys Single submitter ⚠
p.Arg211His Single submitter ⚠
p.Arg253Gln Single submitter ⚠
p.Arg307Gln Single submitter ⚠
p.Arg307Trp Single submitter ⚠
p.Arg313Gln Single submitter ⚠
p.Arg322Gln Single submitter ⚠
p.Arg322Trp Single submitter ⚠
p.Arg334Gln Single submitter ⚠
p.Arg334Pro Single submitter ⚠
p.Arg341Gln Single submitter ⚠
p.Arg352Gln Single submitter ⚠
p.Arg388His Single submitter ⚠
p.Arg411Gln Single submitter ⚠
p.Arg43Trp Single submitter ⚠
p.Arg45Pro Single submitter ⚠
p.Arg543Trp Single submitter ⚠
p.Arg592Trp Single submitter ⚠
p.Arg600Gln Single submitter ⚠
p.Arg60Gln Single submitter ⚠
p.Arg60Pro Single submitter ⚠
p.Arg628Cys Single submitter ⚠
p.Arg628His Single submitter ⚠
p.Arg636Gln Single submitter ⚠
p.Arg636Trp Single submitter ⚠
p.Arg659Pro Single submitter ⚠
p.Arg696Trp Single submitter ⚠
p.Arg726Gln Single submitter ⚠
p.Asn287Thr Single submitter ⚠
p.Asp137His Single submitter ⚠
p.Asp159Asn Single submitter ⚠
p.Asp295Asn Single submitter ⚠
p.Asp710Gly Single submitter ⚠
p.Gln566Glu Single submitter ⚠
p.Gln657Arg Single submitter ⚠
p.Glu309Ala Single submitter ⚠
p.Glu320Gln Single submitter ⚠
p.Glu38Gly Single submitter ⚠
p.Glu38Lys Single submitter ⚠
p.Glu418Asp Single submitter ⚠
p.Glu418Gln Single submitter ⚠
p.Glu438Lys Single submitter ⚠
p.Glu718Gly Single submitter ⚠
p.Gly175Ser Single submitter ⚠
p.Gly231Ala Single submitter ⚠
p.Gly299Ser Single submitter ⚠
p.Gly364Arg Single submitter ⚠
p.Gly364Ser Single submitter ⚠
p.Gly416Val Single submitter ⚠
p.Gly447Ala Single submitter ⚠
p.Gly503Arg Single submitter ⚠
p.Gly503Glu Single submitter ⚠
p.Gly525Asp Single submitter ⚠
p.Gly557Ser Single submitter ⚠
p.Gly706Arg Single submitter ⚠
p.Gly733Ser Single submitter ⚠
p.His183Arg Single submitter ⚠
p.His452Arg Single submitter ⚠
p.His522Arg Single submitter ⚠
p.Ile523Leu Single submitter ⚠
p.Ile624Met Single submitter ⚠
p.Leu108Pro Single submitter ⚠
p.Leu259Val Single submitter ⚠
p.Leu286Phe Single submitter ⚠
p.Leu315Pro Single submitter ⚠
p.Leu427Arg Single submitter ⚠
p.Leu435Phe Single submitter ⚠
p.Leu495Val Single submitter ⚠
p.Leu542Phe Single submitter ⚠
p.Leu613Pro Single submitter ⚠
p.Leu687Val Single submitter ⚠
p.Leu700Val Single submitter ⚠
p.Leu738Pro Single submitter ⚠
p.Lys346Arg Single submitter ⚠
p.Lys372Glu Single submitter ⚠
p.Lys492Glu Single submitter ⚠
p.Met497Val Single submitter ⚠
p.Met683Thr Single submitter ⚠
p.Phe293Val Single submitter ⚠
p.Phe404Ser Single submitter ⚠
p.Phe483Leu Single submitter ⚠
p.Phe59Leu Single submitter ⚠
p.Pro116Ala Single submitter ⚠
p.Pro116Thr Single submitter ⚠
p.Pro249Ser Single submitter ⚠
p.Pro473Leu Single submitter ⚠
p.Pro541Leu Single submitter ⚠
p.Pro545Ser Single submitter ⚠
p.Pro588Leu Single submitter ⚠
p.Pro639Ser Single submitter ⚠
p.Pro674Ser Single submitter ⚠
p.Pro679Leu Single submitter ⚠
p.Pro67Leu Single submitter ⚠
p.Ser212Leu Single submitter ⚠
p.Ser239Leu Single submitter ⚠
p.Ser464Phe Single submitter ⚠
p.Ser646Arg Single submitter ⚠
p.Ser656Leu Single submitter ⚠
p.Ser66Phe Single submitter ⚠
p.Thr193Met Single submitter ⚠
p.Thr402Met Single submitter ⚠
p.Thr514Ile Single submitter ⚠
p.Thr693Ser Single submitter ⚠
p.Thr80Ser Single submitter ⚠
p.Tyr304Cys Single submitter ⚠
p.Tyr326His Single submitter ⚠
p.Tyr425His Single submitter ⚠
p.Val160Leu Single submitter ⚠
p.Val162Gly Single submitter ⚠
p.Val327Met Single submitter ⚠
p.Val329Met Single submitter ⚠
p.Val401Ile Single submitter ⚠
p.Val421Ile Single submitter ⚠
p.Val475Ile Single submitter ⚠
p.Val571Gly Single submitter ⚠
p.Val619Met Single submitter ⚠
p.Val622Ile Single submitter ⚠
p.Val658Ile Single submitter ⚠
p.Val6Ala Single submitter ⚠
p.Val702Met Single submitter ⚠
p.Val736Leu Single submitter ⚠