ASAP2 — 143 ClinVar variants

All ClinVar germline ASAP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 135 flagged for review →

4 Benign · 4 Likely benign · 135 Uncertain significance

Full ASAP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 135

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 77

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

Predictors split 58

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

All ASAP2 variants

Benign 4

p.Ala592= Multiple submitters
p.Asp434= Multiple submitters
p.Asp45= Multiple submitters
p.Pro868Leu Multiple submitters

Likely benign 4

p.Ala774Thr Single submitter
p.Asn904Ser Single submitter
p.Cys551= Single submitter
p.Thr843Ala Single submitter

Uncertain significance 135

p.Ala1005Thr Single submitter ⚠
p.Ala276Thr Single submitter ⚠
p.Ala31Val Single submitter ⚠
p.Ala441Val Single submitter ⚠
p.Ala489Thr Single submitter ⚠
p.Ala536Ser Single submitter ⚠
p.Ala536Thr Single submitter ⚠
p.Ala544Thr Single submitter ⚠
p.Ala545Val Single submitter ⚠
p.Ala553Val Single submitter ⚠
p.Ala565Val Single submitter ⚠
p.Ala579Thr Single submitter ⚠
p.Ala592Val Single submitter ⚠
p.Ala634Val Single submitter ⚠
p.Ala735Thr Single submitter ⚠
p.Ala743Ser Single submitter ⚠
p.Ala746Thr Single submitter ⚠
p.Ala893Val Single submitter ⚠
p.Ala919Thr Single submitter ⚠
p.Ala933Glu Single submitter ⚠
p.Ala995Thr Single submitter ⚠
p.Arg270Gln Single submitter ⚠
p.Arg288His Single submitter ⚠
p.Arg320Gln Single submitter ⚠
p.Arg642Trp Single submitter ⚠
p.Arg663Cys Single submitter ⚠
p.Arg715Gln Single submitter ⚠
p.Arg715Trp Single submitter ⚠
p.Arg719Gln Single submitter ⚠
p.Arg719Trp Single submitter ⚠
p.Arg817Gln Single submitter ⚠
p.Arg817Trp Single submitter ⚠
p.Arg819Gln Single submitter ⚠
p.Arg875Gly Single submitter ⚠
p.Arg875Ser Single submitter ⚠
p.Arg886Cys Single submitter ⚠
p.Arg886His Single submitter ⚠
p.Arg89Lys Single submitter ⚠
p.Arg909Gly Single submitter ⚠
p.Arg992His Single submitter ⚠
p.Asn450Ser Single submitter ⚠
p.Asn491Ser Single submitter ⚠
p.Asn520Lys Single submitter ⚠
p.Asn633Ser Single submitter ⚠
p.Asn85Ile Single submitter ⚠
p.Asp284Glu Single submitter ⚠
p.Asp408Gly Single submitter ⚠
p.Asp518Asn Single submitter ⚠
p.Asp571Asn Single submitter ⚠
p.Asp571Gly Single submitter ⚠
p.Asp585Gly Single submitter ⚠
p.Asp597Tyr Single submitter ⚠
p.Asp718Glu Single submitter ⚠
p.Asp913Val Single submitter ⚠
p.Cys629Arg Single submitter ⚠
p.Gln675His Single submitter ⚠
p.Gln759Leu Single submitter ⚠
p.Gln873His Single submitter ⚠
p.Gln889Arg Single submitter ⚠
p.Glu303Lys Single submitter ⚠
p.Glu397Asp Single submitter ⚠
p.Glu458Lys Single submitter ⚠
p.Glu508Lys Single submitter ⚠
p.Glu635Lys Single submitter ⚠
p.Glu696Lys Single submitter ⚠
p.Gly654Arg Single submitter ⚠
p.Gly727Asp Single submitter ⚠
p.Gly764Arg Single submitter ⚠
p.Gly84Ser Single submitter ⚠
p.Gly910Glu Single submitter ⚠
p.Gly975Arg Single submitter ⚠
p.His225Arg Single submitter ⚠
p.His296Arg Single submitter ⚠
p.His304Asn Single submitter ⚠
p.His540Tyr Single submitter ⚠
p.His666Arg Single submitter ⚠
p.Ile1004Val Single submitter ⚠
p.Ile123Val Single submitter ⚠
p.Ile221Val Single submitter ⚠
p.Ile272Val Single submitter ⚠
p.Ile423Val Single submitter ⚠
p.Ile559Val Single submitter ⚠
p.Ile983Val Single submitter ⚠
p.Leu547Phe Single submitter ⚠
p.Leu562Phe Single submitter ⚠
p.Leu614Pro Single submitter ⚠
p.Leu709Ser Single submitter ⚠
p.Leu767Pro Single submitter ⚠
p.Lys512Arg Single submitter ⚠
p.Lys575Asn Single submitter ⚠
p.Lys644Asn Single submitter ⚠
p.Met501Val Single submitter ⚠
p.Met754Ile Single submitter ⚠
p.Phe681Leu Single submitter ⚠
p.Phe681Tyr Single submitter ⚠
p.Pro506Gln Single submitter ⚠
p.Pro584Leu Single submitter ⚠
p.Pro711Leu Single submitter ⚠
p.Pro779Leu Single submitter ⚠
p.Pro786Arg Single submitter ⚠
p.Pro830Ser Single submitter ⚠
p.Pro833Ala Single submitter ⚠
p.Pro848Gln Single submitter ⚠
p.Pro849Ser Single submitter ⚠
p.Pro876Ser Single submitter ⚠
p.Pro878Leu Single submitter ⚠
p.Pro881Arg Single submitter ⚠
p.Pro883Thr Single submitter ⚠
p.Pro888Leu Single submitter ⚠
p.Pro894Leu Single submitter ⚠
p.Ser549Gly Single submitter ⚠
p.Ser678Pro Single submitter ⚠
p.Ser722Thr Single submitter ⚠
p.Ser770Asn Single submitter ⚠
p.Ser822Thr Single submitter ⚠
p.Ser838Thr Single submitter ⚠
p.Ser855Arg Single submitter ⚠
p.Ser855Cys Single submitter ⚠
p.Ser939Leu Single submitter ⚠
p.Ser966Phe Single submitter ⚠
p.Thr247Met Single submitter ⚠
p.Thr410Ser Single submitter ⚠
p.Thr431Met Single submitter ⚠
p.Thr527Ile Single submitter ⚠
p.Thr556Met Single submitter ⚠
p.Thr845Pro Single submitter ⚠
p.Thr917Met Single submitter ⚠
p.Thr964Ser Single submitter ⚠
p.Val205Ile Single submitter ⚠
p.Val435Ile Single submitter ⚠
p.Val554Ile Single submitter ⚠
p.Val58Met Single submitter ⚠
p.Val687Ile Single submitter ⚠
p.Val827Ile Single submitter ⚠
p.Val856Leu Single submitter ⚠