ULK1 — 201 ClinVar variants

All ClinVar germline ULK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 168 flagged for review →

9 Benign · 2 Benign/Likely benign · 12 Likely benign · 178 Uncertain significance

Full ULK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 168

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 152

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 152

Predictors split 16

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

All ULK1 variants

Benign 9

p.Ala923= Multiple submitters
p.Arg966= Multiple submitters
p.Gly757= Multiple submitters
p.Leu596= Multiple submitters
p.Leu926= Multiple submitters
p.Ser665Leu Multiple submitters
p.Thr216= Multiple submitters
p.Thr452Ser Multiple submitters
c.2183-3C>T Single submitter

Benign/Likely benign 2

p.Leu957= Multiple submitters
p.Pro574= Multiple submitters

Likely benign 12

p.Pro574Arg Multiple submitters
c.2684+10G>A Single submitter
p.Ala393= Single submitter
p.Arg446Gln Single submitter
p.Gly519Arg Single submitter
p.Ile1027= Single submitter
p.Ile462Val Single submitter
p.Thr242Ile Single submitter
p.Thr764= Single submitter
p.Val1030Ile Single submitter
p.Val45= Single submitter
p.Gly762Arg No assertion criteria ULK1-related disorder

Uncertain significance 178

p.Thr660Met Multiple submitters ⚠
c.1374-1G>A Single submitter
c.2183-2A>G Single submitter
p.Ala106Asp Single submitter ⚠
p.Ala202Val Single submitter ⚠
p.Ala393Val Single submitter ⚠
p.Ala418Thr Single submitter ⚠
p.Ala418Val Single submitter ⚠
p.Ala428Thr Single submitter ⚠
p.Ala706Val Single submitter ⚠
p.Ala728Val Single submitter ⚠
p.Ala741Thr Single submitter ⚠
p.Ala743Asp Single submitter ⚠
p.Ala782Ser Single submitter ⚠
p.Ala804Gly Single submitter ⚠
p.Ala867Thr Single submitter ⚠
p.Ala871Val Single submitter ⚠
p.Ala897Glu Single submitter ⚠
p.Ala897Val Single submitter ⚠
p.Ala984Thr Single submitter ⚠
p.Arg1006His Single submitter ⚠
p.Arg18Cys Single submitter ⚠
p.Arg245Gly Single submitter ⚠
p.Arg245Pro Single submitter ⚠
p.Arg342Gln Single submitter ⚠
p.Arg342Pro Single submitter ⚠
p.Arg342Trp Single submitter ⚠
p.Arg34Cys Single submitter ⚠
p.Arg492Lys Single submitter ⚠
p.Arg500Gln Single submitter ⚠
p.Arg514Gln Single submitter ⚠
p.Arg514Trp Single submitter ⚠
p.Arg532Ser Single submitter ⚠
p.Arg567His Single submitter ⚠
p.Arg603Trp Single submitter ⚠
p.Arg614Gln Single submitter ⚠
p.Arg648Trp Single submitter ⚠
p.Arg657Gly Single submitter ⚠
p.Arg659Trp Single submitter ⚠
p.Arg680Gln Single submitter ⚠
p.Arg691Trp Single submitter
p.Arg697Cys Single submitter ⚠
p.Arg742Gly Single submitter ⚠
p.Arg742His Single submitter ⚠
p.Arg770His Single submitter ⚠
p.Arg787His Single submitter ⚠
p.Arg848Cys Single submitter ⚠
p.Arg922Gln Single submitter ⚠
p.Arg937Cys Single submitter ⚠
p.Arg956Gln Single submitter ⚠
p.Arg966Gln Single submitter ⚠
p.Arg970Cys Single submitter ⚠
p.Arg970His Single submitter ⚠
p.Asn155Lys Single submitter ⚠
p.Asn157Ser Single submitter ⚠
p.Asn262Ser Single submitter ⚠
p.Asn601Lys Single submitter ⚠
p.Asn615Thr Single submitter ⚠
p.Asp343Asn Single submitter ⚠
p.Asp610Asn Single submitter ⚠
p.Asp610Gly Single submitter ⚠
p.Asp829Asn Single submitter ⚠
p.Asp829fs Single submitter
p.Asp885Asn Single submitter ⚠
p.Asp919Glu Single submitter ⚠
p.Cys47Ser Single submitter ⚠
p.Gln437Pro Single submitter ⚠
p.Gln442Glu Single submitter ⚠
p.Gln455Arg Single submitter ⚠
p.Gln710Arg Single submitter ⚠
p.Glu1028Val Single submitter ⚠
p.Glu15Gln Single submitter ⚠
p.Glu320Lys Single submitter ⚠
p.Glu396Gln Single submitter ⚠
p.Glu445Ala Single submitter ⚠
p.Glu722Gln Single submitter ⚠
p.Glu726Gly Single submitter ⚠
p.Glu820Lys Single submitter ⚠
p.Glu833Ala Single submitter ⚠
p.Glu842Gly Single submitter ⚠
p.Glu898Gly Single submitter ⚠
p.Glu908Lys Single submitter
p.Gly133Ser Single submitter ⚠
p.Gly301Ser Single submitter ⚠
p.Gly319Asp Single submitter ⚠
p.Gly345Asp Single submitter ⚠
p.Gly346Ala Single submitter ⚠
p.Gly427Ser Single submitter ⚠
p.Gly530Ala Single submitter ⚠
p.Gly595Ser Single submitter ⚠
p.Gly650Ser Single submitter ⚠
p.Gly678Asp Single submitter ⚠
p.Gly687Asp Single submitter ⚠
p.Gly732Ala Single submitter ⚠
p.Gly734Ala Single submitter ⚠
p.Gly735Arg Single submitter ⚠
p.Gly740Arg Single submitter ⚠
p.Gly757Asp Single submitter ⚠
p.Gly777Asp Single submitter ⚠
p.Gly777Ser Single submitter ⚠
p.Gly808Arg Single submitter ⚠
p.Gly865Asp Single submitter ⚠
p.Gly865Ser Single submitter ⚠
p.Gly873Asp Single submitter ⚠
p.His263Arg Single submitter ⚠
p.His274Arg Single submitter ⚠
p.Ile22Met Single submitter ⚠
p.Ile727Ser Single submitter ⚠
p.Ile75Val Single submitter ⚠
p.Ile815Thr Single submitter ⚠
p.Leu1012Met Single submitter ⚠
p.Leu496Val Single submitter ⚠
p.Leu698Phe Single submitter ⚠
p.Leu703Ile Single submitter ⚠
p.Leu909Gln Single submitter ⚠
p.Lys686Gln Single submitter ⚠
p.Lys905Thr Single submitter ⚠
p.Met176Thr Single submitter ⚠
p.Met494Ile Single submitter ⚠
p.Met725Arg Single submitter
p.Met725Val Single submitter ⚠
p.Met84Val Single submitter ⚠
p.Phe582Cys Single submitter ⚠
p.Phe689Val Single submitter ⚠
p.Phe961Leu Single submitter ⚠
p.Pro156Arg Single submitter ⚠
p.Pro315Leu Single submitter ⚠
p.Pro316Leu Single submitter ⚠
p.Pro420Leu Single submitter ⚠
p.Pro420Ser Single submitter ⚠
p.Pro521Leu Single submitter ⚠
p.Pro534Leu Single submitter ⚠
p.Pro616Leu Single submitter ⚠
p.Pro618Ser Single submitter
p.Pro629Leu Single submitter ⚠
p.Pro637Leu Single submitter ⚠
p.Pro669Thr Single submitter ⚠
p.Pro688Leu Single submitter ⚠
p.Pro712Arg Single submitter ⚠
p.Pro714Ala Single submitter ⚠
p.Pro751Leu Single submitter ⚠
p.Pro760Ala Single submitter ⚠
p.Pro760Arg Single submitter
p.Pro760Gln Single submitter
p.Pro760Leu Single submitter ⚠
p.Pro766Leu Single submitter ⚠
p.Pro798Leu Single submitter ⚠
p.Pro814Arg Single submitter ⚠
p.Ser1022Leu Single submitter ⚠
p.Ser283Pro Single submitter ⚠
p.Ser422Cys Single submitter ⚠
p.Ser593Phe Single submitter ⚠
p.Ser638Cys Single submitter ⚠
p.Ser736Arg Single submitter ⚠
p.Ser748Asn Single submitter ⚠
p.Ser911Cys Single submitter ⚠
p.Ser929Leu Single submitter ⚠
p.Thr247Ile Single submitter ⚠
p.Thr309Ile Single submitter ⚠
p.Thr401Ile Single submitter ⚠
p.Thr468Ile Single submitter ⚠
p.Thr575Met Single submitter ⚠
p.Thr695Ser Single submitter ⚠
p.Tyr441Cys Single submitter ⚠
p.Tyr502His Single submitter ⚠
p.Val1004Ile Single submitter ⚠
p.Val290Met Single submitter ⚠
p.Val358Ile Single submitter ⚠
p.Val360Ile Single submitter ⚠
p.Val565Ile Single submitter ⚠
p.Val566Ile Single submitter ⚠
p.Val566Leu Single submitter ⚠
p.Val652Met Single submitter ⚠
p.Val756Met Single submitter ⚠
p.Val790Leu Single submitter ⚠
p.Val790Met Single submitter ⚠
p.Val883Ala Single submitter
p.Val948Leu Single submitter ⚠