CATSPERD — 138 ClinVar variants

All ClinVar germline CATSPERD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 122 flagged for review →

16 Likely benign · 122 Uncertain significance

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

⚑ Evidence disagreements 122

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 99

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

Predictors split 23

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

All CATSPERD variants

Likely benign 16

p.Arg164His Single submitter
p.Arg277Gln Single submitter
p.Arg748His Single submitter
p.Asp282Glu Single submitter
p.Gln418Arg Single submitter
p.Gln702His Single submitter
p.Gly682Ser Single submitter
p.His683Arg Single submitter
p.Lys757Arg Single submitter
p.Phe290Ser Single submitter
p.Ser414= Single submitter
p.Ser414Leu Single submitter
p.Thr275= Single submitter
p.Tyr334Asn Single submitter
p.Val384Ile Single submitter
p.Val40Ile Single submitter

Uncertain significance 122

p.Ala101Val Single submitter ⚠
p.Ala248Thr Single submitter ⚠
p.Ala307Glu Single submitter ⚠
p.Ala307Thr Single submitter ⚠
p.Ala331Ser Single submitter ⚠
p.Ala375Val Single submitter ⚠
p.Ala524Thr Single submitter ⚠
p.Ala659Ser Single submitter ⚠
p.Ala750Thr Single submitter ⚠
p.Arg164Cys Single submitter ⚠
p.Arg231Gln Single submitter ⚠
p.Arg24Cys Single submitter ⚠
p.Arg311Gln Single submitter ⚠
p.Arg357His Single submitter ⚠
p.Arg590Gln Single submitter ⚠
p.Arg751Cys Single submitter ⚠
p.Arg753His Single submitter ⚠
p.Arg765Lys Single submitter ⚠
p.Arg787Cys Single submitter ⚠
p.Arg789Cys Single submitter ⚠
p.Asn304Lys Single submitter ⚠
p.Asn472Ser Single submitter ⚠
p.Asn648Ile Single submitter ⚠
p.Asn658Ser Single submitter ⚠
p.Asp166His Single submitter ⚠
p.Asp189His Single submitter ⚠
p.Asp39Gly Single submitter ⚠
p.Asp457Gly Single submitter ⚠
p.Asp470Asn Single submitter ⚠
p.Asp498Gly Single submitter ⚠
p.Asp549Asn Single submitter ⚠
p.Cys369Arg Single submitter ⚠
p.Cys496Trp Single submitter ⚠
p.Cys510Arg Single submitter ⚠
p.Cys763Arg Single submitter ⚠
p.Cys770Phe Single submitter ⚠
p.Gln114Pro Single submitter ⚠
p.Gln333Arg Single submitter ⚠
p.Gln367Arg Single submitter ⚠
p.Gln38Arg Single submitter ⚠
p.Gln519His Single submitter ⚠
p.Gln620Arg Single submitter ⚠
p.Gln771Arg Single submitter ⚠
p.Glu390Gln Single submitter ⚠
p.Glu783Lys Single submitter ⚠
p.Gly105Cys Single submitter ⚠
p.Gly131Asp Single submitter ⚠
p.Gly148Ala Single submitter ⚠
p.Gly200Arg Single submitter ⚠
p.Gly250Ser Single submitter ⚠
p.Gly394Glu Single submitter ⚠
p.Gly467Ala Single submitter ⚠
p.Gly640Glu Single submitter ⚠
p.Gly752Ser Single submitter ⚠
p.Gly786Glu Single submitter ⚠
p.His102Tyr Single submitter ⚠
p.His138Arg Single submitter ⚠
p.His154Tyr Single submitter ⚠
p.His48Tyr Single submitter ⚠
p.Ile309Val Single submitter ⚠
p.Ile335Met Single submitter ⚠
p.Ile489Thr Single submitter ⚠
p.Ile543Phe Single submitter ⚠
p.Ile680Leu Single submitter ⚠
p.Ile693Thr Single submitter ⚠
p.Ile693Val Single submitter ⚠
p.Ile706Phe Single submitter ⚠
p.Leu14Phe Single submitter ⚠
p.Leu213Val Single submitter ⚠
p.Leu370His Single submitter ⚠
p.Leu382Phe Single submitter ⚠
p.Leu409Met Single submitter ⚠
p.Leu4Ser Single submitter ⚠
p.Lys461Asn Single submitter ⚠
p.Lys61Glu Single submitter ⚠
p.Lys757Glu Single submitter ⚠
p.Met128Ile Single submitter ⚠
p.Met12Thr Single submitter ⚠
p.Met12Val Single submitter ⚠
p.Met378Leu Single submitter ⚠
p.Met378Thr Single submitter ⚠
p.Met527Thr Single submitter ⚠
p.Met527Val Single submitter ⚠
p.Phe396Leu Single submitter ⚠
p.Phe594Leu Single submitter ⚠
p.Pro380Ser Single submitter ⚠
p.Pro628Leu Single submitter ⚠
p.Pro641Ala Single submitter ⚠
p.Pro660Leu Single submitter ⚠
p.Pro784Leu Single submitter ⚠
p.Pro84Ser Single submitter ⚠
p.Ser434Ala Single submitter ⚠
p.Ser495Leu Single submitter ⚠
p.Ser503Leu Single submitter ⚠
p.Ser614Phe Single submitter ⚠
p.Ser692Leu Single submitter ⚠
p.Thr147Asn Single submitter ⚠
p.Thr481Ile Single submitter ⚠
p.Thr618Met Single submitter ⚠
p.Thr633Ala Single submitter ⚠
p.Thr705Ala Single submitter ⚠
p.Thr749Ile Single submitter ⚠
p.Thr760Ile Single submitter ⚠
p.Thr768Arg Single submitter ⚠
p.Thr768Met Single submitter ⚠
p.Trp13Cys Single submitter ⚠
p.Trp582Arg Single submitter ⚠
p.Tyr188Cys Single submitter ⚠
p.Tyr690His Single submitter ⚠
p.Tyr698Cys Single submitter ⚠
p.Val214Ala Single submitter ⚠
p.Val276Ile Single submitter ⚠
p.Val340Met Single submitter ⚠
p.Val517Ala Single submitter ⚠
p.Val517Ile Single submitter ⚠
p.Val576Ile Single submitter ⚠
p.Val666Ile Single submitter ⚠
p.Val717Glu Single submitter ⚠
p.Val71Ile Single submitter ⚠
p.Val725Ile Single submitter ⚠
p.Val769Ala Single submitter ⚠
p.Val769Leu Single submitter ⚠