PSD — 131 ClinVar variants
All ClinVar germline PSD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 110 flagged for review →
4 Benign · 14 Likely benign · 113 Uncertain significance
Full PSD gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 110
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.
- PSD p.Ala1017Pro Uncertain significance Single submitter
- PSD p.Ala185Pro Uncertain significance Single submitter
- PSD p.Ala204Val Uncertain significance Single submitter
- PSD p.Ala260Val Uncertain significance Single submitter
- PSD p.Ala311Asp Uncertain significance Single submitter
- PSD p.Ala457Thr Uncertain significance Single submitter
- PSD p.Ala459Thr Uncertain significance Single submitter
- PSD p.Ala51Glu Uncertain significance Single submitter
- PSD p.Ala711Thr Uncertain significance Single submitter
- PSD p.Ala762Val Uncertain significance Single submitter
- PSD p.Ala84Val Uncertain significance Single submitter
- PSD p.Ala894Ser Uncertain significance Single submitter
- PSD p.Ala894Thr Uncertain significance Single submitter
- PSD p.Ala972Val Uncertain significance Single submitter
- PSD p.Ala975Val Uncertain significance Single submitter
- PSD p.Arg1005Gln Uncertain significance Single submitter
- PSD p.Arg1005Gly Uncertain significance Single submitter
- PSD p.Arg1005Trp Uncertain significance Single submitter
- PSD p.Arg1008Pro Uncertain significance Single submitter
- PSD p.Arg1021Trp Uncertain significance Single submitter
- PSD p.Arg1022Gln Uncertain significance Single submitter
- PSD p.Arg104His Uncertain significance Single submitter
- PSD p.Arg125Gly Uncertain significance Single submitter
- PSD p.Arg147Gln Uncertain significance Single submitter
- PSD p.Arg23His Uncertain significance Single submitter
- PSD p.Arg379Gln Uncertain significance Single submitter
- PSD p.Arg379Trp Uncertain significance Single submitter
- PSD p.Arg414Gln Uncertain significance Single submitter
- PSD p.Arg538Trp Uncertain significance Single submitter
- PSD p.Arg560His Uncertain significance Single submitter
- PSD p.Arg58Trp Uncertain significance Single submitter
- PSD p.Arg734Gln Uncertain significance Single submitter
- PSD p.Arg734Pro Uncertain significance Single submitter
- PSD p.Arg778Trp Uncertain significance Single submitter
- PSD p.Arg77His Uncertain significance Single submitter
- PSD p.Arg863His Uncertain significance Single submitter
- PSD p.Asn146Ser Uncertain significance Single submitter
- PSD p.Asn194Ser Uncertain significance Single submitter
- PSD p.Asp300Asn Uncertain significance Single submitter
- PSD p.Asp354Gly Uncertain significance Single submitter
- PSD p.Asp364Glu Uncertain significance Single submitter
- PSD p.Asp365Glu Uncertain significance Single submitter
- PSD p.Asp454His Uncertain significance Single submitter
- PSD p.Asp575Asn Uncertain significance Single submitter
- PSD p.Asp985Glu Uncertain significance Single submitter
- PSD p.Gln1003His Uncertain significance Single submitter
- PSD p.Gln559Arg Uncertain significance Single submitter
- PSD p.Gln634Arg Uncertain significance Single submitter
- PSD p.Gln91His Uncertain significance Single submitter
- PSD p.Glu593Lys Uncertain significance Single submitter
- PSD p.Glu984Lys Uncertain significance Single submitter
- PSD p.Gly1020Glu Uncertain significance Single submitter
- PSD p.Gly195Val Uncertain significance Single submitter
- PSD p.Gly198Ala Uncertain significance Single submitter
- PSD p.Gly272Arg Uncertain significance Single submitter
- PSD p.Gly346Ser Uncertain significance Single submitter
- PSD p.Gly72Ala Uncertain significance Single submitter
- PSD p.Gly737Arg Uncertain significance Single submitter
- PSD p.Gly981Arg Uncertain significance Single submitter
- PSD p.His1009Tyr Uncertain significance Single submitter
- PSD p.His231Tyr Uncertain significance Single submitter
- PSD p.Leu117Pro Uncertain significance Single submitter
- PSD p.Leu141Pro Uncertain significance Single submitter
- PSD p.Leu288Arg Uncertain significance Single submitter
- PSD p.Leu426Pro Uncertain significance Single submitter
- PSD p.Leu464Phe Uncertain significance Single submitter
- PSD p.Leu724Met Uncertain significance Single submitter
- PSD p.Leu747Val Uncertain significance Single submitter
- PSD p.Leu797Met Uncertain significance Single submitter
- PSD p.Leu958Val Uncertain significance Single submitter
- PSD p.Lys148Asn Uncertain significance Single submitter
- PSD p.Lys282Arg Uncertain significance Single submitter
- PSD p.Lys949Arg Uncertain significance Single submitter
- PSD p.Pro249Ala Uncertain significance Single submitter
- PSD p.Pro256Ser Uncertain significance Single submitter
- PSD p.Pro262Gln Uncertain significance Single submitter
- PSD p.Pro319Arg Uncertain significance Single submitter
- PSD p.Pro339Ser Uncertain significance Single submitter
- PSD p.Pro341Leu Uncertain significance Single submitter
- PSD p.Pro446Leu Uncertain significance Single submitter
- PSD p.Pro446Thr Uncertain significance Single submitter
- PSD p.Pro751Ser Uncertain significance Single submitter
- PSD p.Pro889Ser Uncertain significance Single submitter
- PSD p.Pro88Ser Uncertain significance Single submitter
- PSD p.Pro94Ala Uncertain significance Single submitter
- PSD p.Pro988Ser Uncertain significance Single submitter
- PSD p.Ser251Arg Uncertain significance Single submitter
- PSD p.Ser395Leu Uncertain significance Single submitter
- PSD p.Ser395Thr Uncertain significance Single submitter
- PSD p.Ser395Trp Uncertain significance Single submitter
- PSD p.Ser887Cys Uncertain significance Single submitter
- PSD p.Ser982Arg Uncertain significance Single submitter
- PSD p.Thr221Ser Uncertain significance Single submitter
- PSD p.Thr392Met Uncertain significance Single submitter
- PSD p.Trp83Gly Uncertain significance Single submitter
- PSD p.Tyr700His Uncertain significance Single submitter
- PSD p.Val277Met Uncertain significance Single submitter
- PSD p.Val386Leu Uncertain significance Single submitter
- PSD p.Val50Met Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- PSD p.Ala698Asp Uncertain significance Single submitter
- PSD p.Ala769Thr Uncertain significance Single submitter
- PSD p.Arg778Gln Uncertain significance Single submitter
- PSD p.Arg7Cys Uncertain significance Single submitter
- PSD p.Glu350Lys Uncertain significance Single submitter
- PSD p.Glu407Lys Uncertain significance Single submitter
- PSD p.Glu801Lys Uncertain significance Single submitter
- PSD p.His631Arg Uncertain significance Single submitter
- PSD p.Pro745His Uncertain significance Single submitter
- PSD p.Ser313Leu Uncertain significance Single submitter
- PSD p.Thr286Ile Uncertain significance Single submitter
All PSD variants
Benign 4
- p.Gly336Ser Multiple submitters
- p.Leu659= Multiple submitters
- p.Arg1014Gln Single submitter
- p.Pro160= Single submitter
Likely benign 14
- c.2398-9C>T Single submitter
- p.Ala650= Single submitter
- p.Arg162Gly Single submitter
- p.Arg171Gln Single submitter
- p.Arg202His Single submitter
- p.Arg375= Single submitter
- p.Asn583= Single submitter
- p.Cys9= Single submitter
- p.Glu258= Single submitter
- p.Gly680= Single submitter
- p.Ser10= Single submitter
- p.Ser518= Single submitter
- p.Thr155= Single submitter
- p.Val275= Single submitter
Uncertain significance 113
- p.Ala1017Pro Single submitter ⚠
- p.Ala185Pro Single submitter ⚠
- p.Ala204Val Single submitter ⚠
- p.Ala260Val Single submitter ⚠
- p.Ala311Asp Single submitter ⚠
- p.Ala457Thr Single submitter ⚠
- p.Ala459Thr Single submitter ⚠
- p.Ala51Glu Single submitter ⚠
- p.Ala698Asp Single submitter ⚠
- p.Ala711Thr Single submitter ⚠
- p.Ala762Val Single submitter ⚠
- p.Ala769Thr Single submitter ⚠
- p.Ala84Val Single submitter ⚠
- p.Ala894Ser Single submitter ⚠
- p.Ala894Thr Single submitter ⚠
- p.Ala972Val Single submitter ⚠
- p.Ala975Val Single submitter ⚠
- p.Arg1005Gln Single submitter ⚠
- p.Arg1005Gly Single submitter ⚠
- p.Arg1005Trp Single submitter ⚠
- p.Arg1008Pro Single submitter ⚠
- p.Arg1021Trp Single submitter ⚠
- p.Arg1022Gln Single submitter ⚠
- p.Arg104His Single submitter ⚠
- p.Arg125Gly Single submitter ⚠
- p.Arg147Gln Single submitter ⚠
- p.Arg23His Single submitter ⚠
- p.Arg379Gln Single submitter ⚠
- p.Arg379Trp Single submitter ⚠
- p.Arg414Gln Single submitter ⚠
- p.Arg538Trp Single submitter ⚠
- p.Arg560His Single submitter ⚠
- p.Arg58Trp Single submitter ⚠
- p.Arg734Gln Single submitter ⚠
- p.Arg734Pro Single submitter ⚠
- p.Arg778Gln Single submitter ⚠
- p.Arg778Trp Single submitter ⚠
- p.Arg77His Single submitter ⚠
- p.Arg7Cys Single submitter ⚠
- p.Arg845Gln Single submitter
- p.Arg863His Single submitter ⚠
- p.Asn146Ser Single submitter ⚠
- p.Asn194Ser Single submitter ⚠
- p.Asp300Asn Single submitter ⚠
- p.Asp354Gly Single submitter ⚠
- p.Asp364Glu Single submitter ⚠
- p.Asp365Glu Single submitter ⚠
- p.Asp454His Single submitter ⚠
- p.Asp575Asn Single submitter ⚠
- p.Asp985Glu Single submitter ⚠
- p.Gln1003His Single submitter ⚠
- p.Gln559Arg Single submitter ⚠
- p.Gln634Arg Single submitter ⚠
- p.Gln91His Single submitter ⚠
- p.Glu350Lys Single submitter ⚠
- p.Glu407Lys Single submitter ⚠
- p.Glu593Lys Single submitter ⚠
- p.Glu801Lys Single submitter ⚠
- p.Glu984Lys Single submitter ⚠
- p.Gly1020Glu Single submitter ⚠
- p.Gly195Val Single submitter ⚠
- p.Gly198Ala Single submitter ⚠
- p.Gly272Arg Single submitter ⚠
- p.Gly346Ser Single submitter ⚠
- p.Gly72Ala Single submitter ⚠
- p.Gly737Arg Single submitter ⚠
- p.Gly981Arg Single submitter ⚠
- p.His1009Tyr Single submitter ⚠
- p.His231Tyr Single submitter ⚠
- p.His631Arg Single submitter ⚠
- p.Leu117Pro Single submitter ⚠
- p.Leu141Pro Single submitter ⚠
- p.Leu288Arg Single submitter ⚠
- p.Leu426Pro Single submitter ⚠
- p.Leu464Phe Single submitter ⚠
- p.Leu721fs Single submitter
- p.Leu724Met Single submitter ⚠
- p.Leu747Val Single submitter ⚠
- p.Leu797Met Single submitter ⚠
- p.Leu958Val Single submitter ⚠
- p.Lys148Asn Single submitter ⚠
- p.Lys282Arg Single submitter ⚠
- p.Lys949Arg Single submitter ⚠
- p.Pro249Ala Single submitter ⚠
- p.Pro256Ser Single submitter ⚠
- p.Pro262Gln Single submitter ⚠
- p.Pro319Arg Single submitter ⚠
- p.Pro339Ser Single submitter ⚠
- p.Pro341Leu Single submitter ⚠
- p.Pro446Leu Single submitter ⚠
- p.Pro446Thr Single submitter ⚠
- p.Pro745His Single submitter ⚠
- p.Pro751Ser Single submitter ⚠
- p.Pro889Ser Single submitter ⚠
- p.Pro88Ser Single submitter ⚠
- p.Pro94Ala Single submitter ⚠
- p.Pro988Ser Single submitter ⚠
- p.Ser251Arg Single submitter ⚠
- p.Ser313Leu Single submitter ⚠
- p.Ser395Leu Single submitter ⚠
- p.Ser395Thr Single submitter ⚠
- p.Ser395Trp Single submitter ⚠
- p.Ser422fs Single submitter
- p.Ser887Cys Single submitter ⚠
- p.Ser982Arg Single submitter ⚠
- p.Thr221Ser Single submitter ⚠
- p.Thr286Ile Single submitter ⚠
- p.Thr392Met Single submitter ⚠
- p.Trp83Gly Single submitter ⚠
- p.Tyr700His Single submitter ⚠
- p.Val277Met Single submitter ⚠
- p.Val386Leu Single submitter ⚠
- p.Val50Met Single submitter ⚠