CPSF1 — 263 ClinVar variants
All ClinVar germline CPSF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 223 flagged for review →
5 Pathogenic · 3 Likely pathogenic · 3 Conflicting · 1 Benign · 18 Likely benign · 233 Uncertain significance
Full CPSF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 223
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 130
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CPSF1 p.Ala1319Thr Uncertain significance Multiple submitters
- CPSF1 p.Ala1225Val Uncertain significance Single submitter
- CPSF1 p.Ala232Asp Uncertain significance Single submitter
- CPSF1 p.Ala309Val Uncertain significance Single submitter
- CPSF1 p.Ala433Val Uncertain significance Single submitter
- CPSF1 p.Ala47Val Uncertain significance Single submitter
- CPSF1 p.Ala540Thr Uncertain significance Single submitter
- CPSF1 p.Ala729Thr Uncertain significance Single submitter
- CPSF1 p.Ala775Val Uncertain significance Single submitter
- CPSF1 p.Ala87Ser Uncertain significance Single submitter
- CPSF1 p.Ala924Val Uncertain significance Single submitter
- CPSF1 p.Ala976Val Uncertain significance Single submitter
- CPSF1 p.Arg1274His Uncertain significance Single submitter
- CPSF1 p.Arg1382Gly Uncertain significance Single submitter
- CPSF1 p.Arg1389His Uncertain significance Single submitter
- CPSF1 p.Arg1438His Uncertain significance Single submitter
- CPSF1 p.Arg194Trp Uncertain significance Single submitter
- CPSF1 p.Arg387Cys Uncertain significance Single submitter
- CPSF1 p.Arg543His Uncertain significance Single submitter
- CPSF1 p.Arg63Gln Uncertain significance Single submitter
- CPSF1 p.Arg678His Uncertain significance Single submitter
- CPSF1 p.Arg772Gln Uncertain significance Single submitter
- CPSF1 p.Arg789Trp Uncertain significance Single submitter
- CPSF1 p.Arg803Gln Uncertain significance Single submitter
- CPSF1 p.Arg803Trp Uncertain significance Single submitter
- CPSF1 p.Arg839His Uncertain significance Single submitter
- CPSF1 p.Arg925Gln Uncertain significance Single submitter
- CPSF1 p.Arg927His Uncertain significance Single submitter
- CPSF1 p.Arg932Cys Uncertain significance Single submitter
- CPSF1 p.Arg985Cys Uncertain significance Single submitter
- CPSF1 p.Arg985His Uncertain significance Single submitter
- CPSF1 p.Asn44His Uncertain significance Single submitter
- CPSF1 p.Asn549Ser Uncertain significance Single submitter
- CPSF1 p.Asp1342Asn Uncertain significance Single submitter
- CPSF1 p.Asp144Tyr Uncertain significance Single submitter
- CPSF1 p.Asp742Glu Uncertain significance Single submitter
- CPSF1 p.Asp750Gly Uncertain significance Single submitter
-
CPSF1 p.Asp801Tyr
Uncertain significance
Single submitter
myopia 27
- CPSF1 p.Cys475Tyr Uncertain significance Single submitter
- CPSF1 p.Cys785Tyr Uncertain significance Single submitter
- CPSF1 p.Glu1238Lys Uncertain significance Single submitter
- CPSF1 p.Glu214Lys Uncertain significance Single submitter
- CPSF1 p.Glu58Asp Uncertain significance Single submitter
- CPSF1 p.Glu720Asp Uncertain significance Single submitter
- CPSF1 p.Glu761Ala Uncertain significance Single submitter
- CPSF1 p.Gly1292Arg Uncertain significance Single submitter
-
CPSF1 p.Gly1318Ala
Uncertain significance
Single submitter
myopia 27
- CPSF1 p.Gly1344Ser Uncertain significance Single submitter
- CPSF1 p.Gly1375Ser Uncertain significance Single submitter
- CPSF1 p.Gly306Val Uncertain significance Single submitter
- CPSF1 p.Gly380Arg Uncertain significance Single submitter
- CPSF1 p.Gly715Asp Uncertain significance Single submitter
- CPSF1 p.Gly715Ser Uncertain significance Single submitter
- CPSF1 p.Gly722Arg Uncertain significance Single submitter
- CPSF1 p.Gly726Ser Uncertain significance Single submitter
- CPSF1 p.Gly841Arg Uncertain significance Single submitter
- CPSF1 p.Gly957Ser Uncertain significance Single submitter
- CPSF1 p.Gly994Asp Uncertain significance Single submitter
- CPSF1 p.His1028Tyr Uncertain significance Single submitter
- CPSF1 p.His1068Tyr Uncertain significance Single submitter
- CPSF1 p.His1303Arg Uncertain significance Single submitter
- CPSF1 p.Ile1092Met Uncertain significance Single submitter
- CPSF1 p.Ile1428Val Uncertain significance Single submitter
- CPSF1 p.Ile240Thr Uncertain significance Single submitter
- CPSF1 p.Ile320Asn Uncertain significance Single submitter
- CPSF1 p.Ile330Asn Uncertain significance Single submitter
- CPSF1 p.Ile472Val Uncertain significance Single submitter
- CPSF1 p.Ile500Thr Uncertain significance Single submitter
- CPSF1 p.Ile539Met Uncertain significance Single submitter
- CPSF1 p.Ile612Val Uncertain significance Single submitter
- CPSF1 p.Ile968Val Uncertain significance Single submitter
- CPSF1 p.Leu1117Ile Uncertain significance Single submitter
- CPSF1 p.Leu1278Val Uncertain significance Single submitter
- CPSF1 p.Leu1376Pro Uncertain significance Single submitter
- CPSF1 p.Leu1384Val Uncertain significance Single submitter
- CPSF1 p.Leu196Val Uncertain significance Single submitter
- CPSF1 p.Leu670Pro Uncertain significance Single submitter
- CPSF1 p.Leu883Pro Uncertain significance Single submitter
- CPSF1 p.Leu95Phe Uncertain significance Single submitter
- CPSF1 p.Lys1325Arg Uncertain significance Single submitter
- CPSF1 p.Lys422Gln Uncertain significance Single submitter
- CPSF1 p.Lys544Glu Uncertain significance Single submitter
- CPSF1 p.Met1279Thr Uncertain significance Single submitter
- CPSF1 p.Met1369Ile Uncertain significance Single submitter
- CPSF1 p.Met377Val Uncertain significance Single submitter
- CPSF1 p.Met535Thr Uncertain significance Single submitter
- CPSF1 p.Met659Thr Uncertain significance Single submitter
-
CPSF1 p.Met667Val
Uncertain significance
Single submitter
myopia 27
- CPSF1 p.Phe934Cys Uncertain significance Single submitter
- CPSF1 p.Phe975Leu Uncertain significance Single submitter
- CPSF1 p.Pro1315Leu Uncertain significance Single submitter
- CPSF1 p.Pro403Ser Uncertain significance Single submitter
- CPSF1 p.Pro541Leu Uncertain significance Single submitter
- CPSF1 p.Pro563Ser Uncertain significance Single submitter
- CPSF1 p.Pro727Leu Uncertain significance Single submitter
- CPSF1 p.Pro774Ser Uncertain significance Single submitter
- CPSF1 p.Pro826Ser Uncertain significance Single submitter
- CPSF1 p.Pro906Ala Uncertain significance Single submitter
- CPSF1 p.Pro965Leu Uncertain significance Single submitter
- CPSF1 p.Ser1006Pro Uncertain significance Single submitter
- CPSF1 p.Ser26Asn Uncertain significance Single submitter
- CPSF1 p.Ser436Leu Uncertain significance Single submitter
- CPSF1 p.Ser436Pro Uncertain significance Single submitter
- CPSF1 p.Ser999Cys Uncertain significance Single submitter
- CPSF1 p.Thr1021Met Uncertain significance Single submitter
- CPSF1 p.Thr12Pro Uncertain significance Single submitter
- CPSF1 p.Thr138Met Uncertain significance Single submitter
- CPSF1 p.Thr1436Met Uncertain significance Single submitter
- CPSF1 p.Thr51Pro Uncertain significance Single submitter
- CPSF1 p.Thr709Ala Uncertain significance Single submitter
- CPSF1 p.Tyr1120Cys Uncertain significance Single submitter
- CPSF1 p.Tyr533Cys Uncertain significance Single submitter
- CPSF1 p.Tyr862His Uncertain significance Single submitter
- CPSF1 p.Val1114Met Uncertain significance Single submitter
- CPSF1 p.Val1218Ile Uncertain significance Single submitter
- CPSF1 p.Val1304Leu Uncertain significance Single submitter
- CPSF1 p.Val1304Met Uncertain significance Single submitter
- CPSF1 p.Val1329Gly Uncertain significance Single submitter
- CPSF1 p.Val1329Met Uncertain significance Single submitter
- CPSF1 p.Val193Met Uncertain significance Single submitter
- CPSF1 p.Val31Ile Uncertain significance Single submitter
- CPSF1 p.Val369Ile Uncertain significance Single submitter
- CPSF1 p.Val442Met Uncertain significance Single submitter
- CPSF1 p.Val78Ile Uncertain significance Single submitter
- CPSF1 p.Val805Ala Uncertain significance Single submitter
- CPSF1 p.Val813Met Uncertain significance Single submitter
- CPSF1 p.Val846Ile Uncertain significance Single submitter
- CPSF1 p.Val928Met Uncertain significance Single submitter
-
CPSF1 p.Pro1043Ser
Uncertain significance
No assertion criteria
CPSF1-related disorder
-
CPSF1 p.Thr304Ala
Uncertain significance
No assertion criteria
CPSF1-related disorder
Predictors split 93
The independent predictors disagree with each other — read with care.
-
CPSF1 p.Thr561Ile
Uncertain significance
Multiple submitters
myopia 27
- CPSF1 p.Ala1123Thr Uncertain significance Single submitter
- CPSF1 p.Ala1380Val Uncertain significance Single submitter
- CPSF1 p.Ala601Asp Uncertain significance Single submitter
- CPSF1 p.Ala601Thr Uncertain significance Single submitter
- CPSF1 p.Ala853Val Uncertain significance Single submitter
- CPSF1 p.Arg1049Cys Uncertain significance Single submitter
- CPSF1 p.Arg1049His Uncertain significance Single submitter
- CPSF1 p.Arg1276Cys Uncertain significance Single submitter
- CPSF1 p.Arg1298His Uncertain significance Single submitter
- CPSF1 p.Arg142Gln Uncertain significance Single submitter
- CPSF1 p.Arg1438Cys Uncertain significance Single submitter
- CPSF1 p.Arg158Gln Uncertain significance Single submitter
- CPSF1 p.Arg158Trp Uncertain significance Single submitter
- CPSF1 p.Arg165Leu Uncertain significance Single submitter
- CPSF1 p.Arg28Cys Uncertain significance Single submitter
- CPSF1 p.Arg543Cys Uncertain significance Single submitter
- CPSF1 p.Arg616His Uncertain significance Single submitter
- CPSF1 p.Arg63Trp Uncertain significance Single submitter
- CPSF1 p.Arg678Cys Uncertain significance Single submitter
- CPSF1 p.Arg702Gln Uncertain significance Single submitter
- CPSF1 p.Arg713Cys Uncertain significance Single submitter
- CPSF1 p.Arg718Cys Uncertain significance Single submitter
- CPSF1 p.Arg724His Uncertain significance Single submitter
- CPSF1 p.Arg772Trp Uncertain significance Single submitter
- CPSF1 p.Arg778Trp Uncertain significance Single submitter
- CPSF1 p.Arg857Cys Uncertain significance Single submitter
- CPSF1 p.Arg902Ser Uncertain significance Single submitter
- CPSF1 p.Arg91Gln Uncertain significance Single submitter
- CPSF1 p.Arg925Trp Uncertain significance Single submitter
- CPSF1 p.Arg958Gly Uncertain significance Single submitter
- CPSF1 p.Arg962Gln Uncertain significance Single submitter
- CPSF1 p.Asn1397His Uncertain significance Single submitter
- CPSF1 p.Asn390Ser Uncertain significance Single submitter
- CPSF1 p.Asp1387Tyr Uncertain significance Single submitter
- CPSF1 p.Asp146Asn Uncertain significance Single submitter
- CPSF1 p.Asp413Asn Uncertain significance Single submitter
- CPSF1 p.Asp548Asn Uncertain significance Single submitter
- CPSF1 p.Asp54Tyr Uncertain significance Single submitter
- CPSF1 p.Glu1072Asp Uncertain significance Single submitter
- CPSF1 p.Glu662Lys Uncertain significance Single submitter
- CPSF1 p.Glu67Asp Uncertain significance Single submitter
- CPSF1 p.Gly569Cys Uncertain significance Single submitter
- CPSF1 p.Gly706Ser Uncertain significance Single submitter
- CPSF1 p.Gly814Arg Uncertain significance Single submitter
- CPSF1 p.Gly947Ser Uncertain significance Single submitter
- CPSF1 p.Gly957Arg Uncertain significance Single submitter
- CPSF1 p.His879Arg Uncertain significance Single submitter
- CPSF1 p.Ile1145Thr Uncertain significance Single submitter
- CPSF1 p.Ile204Met Uncertain significance Single submitter
- CPSF1 p.Leu1403Met Uncertain significance Single submitter
- CPSF1 p.Leu201Pro Uncertain significance Single submitter
- CPSF1 p.Leu384Val Uncertain significance Single submitter
- CPSF1 p.Leu66Phe Uncertain significance Single submitter
- CPSF1 p.Leu721Phe Uncertain significance Single submitter
- CPSF1 p.Leu754Phe Uncertain significance Single submitter
- CPSF1 p.Lys694Asn Uncertain significance Single submitter
- CPSF1 p.Lys910Met Uncertain significance Single submitter
- CPSF1 p.Met1215Ile Uncertain significance Single submitter
- CPSF1 p.Met1413Ile Uncertain significance Single submitter
- CPSF1 p.Met966Thr Uncertain significance Single submitter
- CPSF1 p.Phe1221Leu Uncertain significance Single submitter
- CPSF1 p.Phe362Val Uncertain significance Single submitter
- CPSF1 p.Pro110Gln Uncertain significance Single submitter
- CPSF1 p.Pro110Leu Uncertain significance Single submitter
- CPSF1 p.Pro1252Leu Uncertain significance Single submitter
- CPSF1 p.Pro404Leu Uncertain significance Single submitter
- CPSF1 p.Pro418Leu Uncertain significance Single submitter
- CPSF1 p.Pro483Ala Uncertain significance Single submitter
- CPSF1 p.Pro496Leu Uncertain significance Single submitter
- CPSF1 p.Pro687Ser Uncertain significance Single submitter
- CPSF1 p.Pro688Leu Uncertain significance Single submitter
- CPSF1 p.Pro908Leu Uncertain significance Single submitter
- CPSF1 p.Pro948Leu Uncertain significance Single submitter
- CPSF1 p.Pro971Leu Uncertain significance Single submitter
- CPSF1 p.Ser188Thr Uncertain significance Single submitter
- CPSF1 p.Ser406Asn Uncertain significance Single submitter
- CPSF1 p.Ser881Cys Uncertain significance Single submitter
- CPSF1 p.Ser909Cys Uncertain significance Single submitter
- CPSF1 p.Thr1038Ala Uncertain significance Single submitter
- CPSF1 p.Thr1038Ile Uncertain significance Single submitter
- CPSF1 p.Thr1042Met Uncertain significance Single submitter
- CPSF1 p.Thr397Ala Uncertain significance Single submitter
- CPSF1 p.Thr838Met Uncertain significance Single submitter
- CPSF1 p.Tyr1004Cys Uncertain significance Single submitter
- CPSF1 p.Tyr1024Cys Uncertain significance Single submitter
- CPSF1 p.Val1308Met Uncertain significance Single submitter
- CPSF1 p.Val538Leu Uncertain significance Single submitter
- CPSF1 p.Val640Met Uncertain significance Single submitter
- CPSF1 p.Val647Met Uncertain significance Single submitter
-
CPSF1 p.Asp1275Tyr
Pathogenic
No assertion criteria
myopia 27
- CPSF1 p.Lys686Asn Uncertain significance No assertion criteria
-
CPSF1 p.Thr397Met
Uncertain significance
No assertion criteria
CPSF1-related disorder
All CPSF1 variants
Pathogenic 5
- p.Glu842fs Single submitter
- p.Met535fs Single submitter
- c.4146-2A>G No assertion criteria myopia 27
- p.Asp1275Tyr No assertion criteria myopia 27 ⚠
- p.Gln620Ter No assertion criteria myopia 27
Likely pathogenic 3
- c.539+1G>A Single submitter myopia 27
- p.Asp719fs Single submitter myopia 27
- p.Lys420fs Single submitter myopia 27
Conflicting classifications of pathogenicity 3
- p.Arg724fs Single submitter
- p.Gly723fs Single submitter
- p.Val943fs Single submitter myopia 27
Benign 1
- p.Ser674= No assertion criteria CPSF1-related disorder
Likely benign 18
- p.Pro654= Multiple submitters
- c.1393-4G>A Single submitter
- p.Ala644Ser Single submitter
- p.Gly722= Single submitter
- p.Gly917Ser Single submitter
- p.Leu1360= Single submitter
- p.Leu754= Single submitter
- p.Pro379= Single submitter
- p.Pro438= Single submitter
- p.Ser705= Single submitter
- p.Ser97= Single submitter
- p.Thr237= Single submitter
- p.Thr956= Single submitter
- p.Tyr675= Single submitter
- c.4146-7_4146-6del No assertion criteria CPSF1-related disorder
- p.Ala918Thr No assertion criteria CPSF1-related disorder
- p.Thr1173= No assertion criteria CPSF1-related disorder
- p.Thr606= No assertion criteria CPSF1-related disorder
Uncertain significance 233
- p.Ala1319Thr Multiple submitters ⚠
- p.Thr561Ile Multiple submitters myopia 27 ⚠
- c.1119+2T>G Single submitter CPSF1-related disorder
- c.1119+5G>T Single submitter myopia 27
- c.1120-5C>T Single submitter myopia 27
- c.1752+4A>T Single submitter myopia 27
- c.1882_1895-76del Single submitter myopia 27
- c.3096+5G>A Single submitter myopia 27
- c.3415-13C>G Single submitter myopia 27
- c.3812-3_3812-2del Single submitter
- p.Ala1123Thr Single submitter ⚠
- p.Ala1225Val Single submitter ⚠
- p.Ala1380Val Single submitter ⚠
- p.Ala232Asp Single submitter ⚠
- p.Ala309Val Single submitter ⚠
- p.Ala433Val Single submitter ⚠
- p.Ala47Val Single submitter ⚠
- p.Ala540Thr Single submitter ⚠
- p.Ala601Asp Single submitter ⚠
- p.Ala601Thr Single submitter ⚠
- p.Ala729Thr Single submitter ⚠
- p.Ala775Val Single submitter ⚠
- p.Ala853Val Single submitter ⚠
- p.Ala87Ser Single submitter ⚠
- p.Ala924Val Single submitter ⚠
- p.Ala976Val Single submitter ⚠
- p.Arg1049Cys Single submitter ⚠
- p.Arg1049His Single submitter ⚠
- p.Arg1274His Single submitter ⚠
- p.Arg1276Cys Single submitter ⚠
- p.Arg1298His Single submitter ⚠
- p.Arg1382Gly Single submitter ⚠
- p.Arg1389His Single submitter ⚠
- p.Arg142Gln Single submitter ⚠
- p.Arg1438Cys Single submitter ⚠
- p.Arg1438His Single submitter ⚠
- p.Arg158Gln Single submitter ⚠
- p.Arg158Trp Single submitter ⚠
- p.Arg165Leu Single submitter ⚠
- p.Arg194Trp Single submitter ⚠
- p.Arg28Cys Single submitter ⚠
- p.Arg387Cys Single submitter ⚠
- p.Arg543Cys Single submitter ⚠
- p.Arg543His Single submitter ⚠
- p.Arg616His Single submitter ⚠
- p.Arg63Gln Single submitter ⚠
- p.Arg63Trp Single submitter ⚠
- p.Arg678Cys Single submitter ⚠
- p.Arg678His Single submitter ⚠
- p.Arg702Gln Single submitter ⚠
- p.Arg713Cys Single submitter ⚠
- p.Arg718Cys Single submitter ⚠
- p.Arg724His Single submitter ⚠
- p.Arg772Gln Single submitter ⚠
- p.Arg772Trp Single submitter ⚠
- p.Arg778Trp Single submitter ⚠
- p.Arg789Trp Single submitter ⚠
- p.Arg803Gln Single submitter ⚠
- p.Arg803Trp Single submitter ⚠
- p.Arg839His Single submitter ⚠
- p.Arg857Cys Single submitter ⚠
- p.Arg902Ser Single submitter ⚠
- p.Arg91Gln Single submitter ⚠
- p.Arg925Gln Single submitter ⚠
- p.Arg925Trp Single submitter ⚠
- p.Arg927His Single submitter ⚠
- p.Arg932Cys Single submitter ⚠
- p.Arg958Gly Single submitter ⚠
- p.Arg962Gln Single submitter ⚠
- p.Arg985Cys Single submitter ⚠
- p.Arg985His Single submitter ⚠
- p.Asn1397His Single submitter ⚠
- p.Asn390Ser Single submitter ⚠
- p.Asn44His Single submitter ⚠
- p.Asn549Ser Single submitter ⚠
- p.Asp1342Asn Single submitter ⚠
- p.Asp1387Tyr Single submitter ⚠
- p.Asp144Tyr Single submitter ⚠
- p.Asp146Asn Single submitter ⚠
- p.Asp413Asn Single submitter ⚠
- p.Asp548Asn Single submitter ⚠
- p.Asp54Tyr Single submitter ⚠
- p.Asp742Glu Single submitter ⚠
- p.Asp750Gly Single submitter ⚠
- p.Asp801Tyr Single submitter myopia 27 ⚠
- p.Cys475Tyr Single submitter ⚠
- p.Cys785Tyr Single submitter ⚠
- p.Gln603Ter Single submitter
- p.Glu1072Asp Single submitter ⚠
- p.Glu1238Lys Single submitter ⚠
- p.Glu214Lys Single submitter ⚠
- p.Glu58Asp Single submitter ⚠
- p.Glu662Lys Single submitter ⚠
- p.Glu67Asp Single submitter ⚠
- p.Glu720Asp Single submitter ⚠
- p.Glu761Ala Single submitter ⚠
- p.Gly1292Arg Single submitter ⚠
- p.Gly1318Ala Single submitter myopia 27 ⚠
- p.Gly1344Ser Single submitter ⚠
- p.Gly1375Ser Single submitter ⚠
- p.Gly306Val Single submitter ⚠
- p.Gly380Arg Single submitter ⚠
- p.Gly569Cys Single submitter ⚠
- p.Gly706Ser Single submitter ⚠
- p.Gly715Asp Single submitter ⚠
- p.Gly715Ser Single submitter ⚠
- p.Gly722Arg Single submitter ⚠
- p.Gly726Ser Single submitter ⚠
- p.Gly814Arg Single submitter ⚠
- p.Gly841Arg Single submitter ⚠
- p.Gly947Ser Single submitter ⚠
- p.Gly957Arg Single submitter ⚠
- p.Gly957fs Single submitter
- p.Gly957Ser Single submitter ⚠
- p.Gly994Asp Single submitter ⚠
- p.His1028Tyr Single submitter ⚠
- p.His1068Tyr Single submitter ⚠
- p.His1303Arg Single submitter ⚠
- p.His879Arg Single submitter ⚠
- p.Ile1092Met Single submitter ⚠
- p.Ile1145Thr Single submitter ⚠
- p.Ile1428Val Single submitter ⚠
- p.Ile204Met Single submitter ⚠
- p.Ile240Thr Single submitter ⚠
- p.Ile320Asn Single submitter ⚠
- p.Ile330Asn Single submitter ⚠
- p.Ile472Val Single submitter ⚠
- p.Ile500Thr Single submitter ⚠
- p.Ile539Met Single submitter ⚠
- p.Ile612Val Single submitter ⚠
- p.Ile968Val Single submitter ⚠
- p.Leu1117Ile Single submitter ⚠
- p.Leu1278Val Single submitter ⚠
- p.Leu1376Pro Single submitter ⚠
- p.Leu1384Val Single submitter ⚠
- p.Leu1403Met Single submitter ⚠
- p.Leu196Val Single submitter ⚠
- p.Leu201Pro Single submitter ⚠
- p.Leu384Val Single submitter ⚠
- p.Leu66Phe Single submitter ⚠
- p.Leu670Pro Single submitter ⚠
- p.Leu721Phe Single submitter ⚠
- p.Leu754Phe Single submitter ⚠
- p.Leu883Pro Single submitter ⚠
- p.Leu95Phe Single submitter ⚠
- p.Lys1325Arg Single submitter ⚠
- p.Lys422Gln Single submitter ⚠
- p.Lys544Glu Single submitter ⚠
- p.Lys694Asn Single submitter ⚠
- p.Lys910Met Single submitter ⚠
- p.Met1215Ile Single submitter ⚠
- p.Met1279Thr Single submitter ⚠
- p.Met1369Ile Single submitter ⚠
- p.Met1413Ile Single submitter ⚠
- p.Met377Val Single submitter ⚠
- p.Met535Thr Single submitter ⚠
- p.Met659Thr Single submitter ⚠
- p.Met667Val Single submitter myopia 27 ⚠
- p.Met966Thr Single submitter ⚠
- p.Phe1221Leu Single submitter ⚠
- p.Phe362Val Single submitter ⚠
- p.Phe934Cys Single submitter ⚠
- p.Phe975Leu Single submitter ⚠
- p.Pro110Gln Single submitter ⚠
- p.Pro110Leu Single submitter ⚠
- p.Pro1252Leu Single submitter ⚠
- p.Pro1315Leu Single submitter ⚠
- p.Pro403Ser Single submitter ⚠
- p.Pro404Leu Single submitter ⚠
- p.Pro418Leu Single submitter ⚠
- p.Pro483Ala Single submitter ⚠
- p.Pro496Leu Single submitter ⚠
- p.Pro541Leu Single submitter ⚠
- p.Pro563Ser Single submitter ⚠
- p.Pro687Ser Single submitter ⚠
- p.Pro688Leu Single submitter ⚠
- p.Pro727Leu Single submitter ⚠
- p.Pro774Ser Single submitter ⚠
- p.Pro826Ser Single submitter ⚠
- p.Pro906Ala Single submitter ⚠
- p.Pro908Leu Single submitter ⚠
- p.Pro948Leu Single submitter ⚠
- p.Pro965Leu Single submitter ⚠
- p.Pro971Leu Single submitter ⚠
- p.Ser1006Pro Single submitter ⚠
- p.Ser188Thr Single submitter ⚠
- p.Ser26Asn Single submitter ⚠
- p.Ser406Asn Single submitter ⚠
- p.Ser436Leu Single submitter ⚠
- p.Ser436Pro Single submitter ⚠
- p.Ser881Cys Single submitter ⚠
- p.Ser909Cys Single submitter ⚠
- p.Ser999Cys Single submitter ⚠
- p.Thr1021Met Single submitter ⚠
- p.Thr1038Ala Single submitter ⚠
- p.Thr1038Ile Single submitter ⚠
- p.Thr1042Met Single submitter ⚠
- p.Thr12Pro Single submitter ⚠
- p.Thr138Met Single submitter ⚠
- p.Thr1436Met Single submitter ⚠
- p.Thr397Ala Single submitter ⚠
- p.Thr51Pro Single submitter ⚠
- p.Thr709Ala Single submitter ⚠
- p.Thr838Met Single submitter ⚠
- p.Tyr1004Cys Single submitter ⚠
- p.Tyr1024Cys Single submitter ⚠
- p.Tyr1120Cys Single submitter ⚠
- p.Tyr533Cys Single submitter ⚠
- p.Tyr862His Single submitter ⚠
- p.Val1114Met Single submitter ⚠
- p.Val1218Ile Single submitter ⚠
- p.Val1304Leu Single submitter ⚠
- p.Val1304Met Single submitter ⚠
- p.Val1308Met Single submitter ⚠
- p.Val1329Gly Single submitter ⚠
- p.Val1329Met Single submitter ⚠
- p.Val193Met Single submitter ⚠
- p.Val31Ile Single submitter ⚠
- p.Val369Ile Single submitter ⚠
- p.Val442Met Single submitter ⚠
- p.Val538Leu Single submitter ⚠
- p.Val640Met Single submitter ⚠
- p.Val647Met Single submitter ⚠
- p.Val78Ile Single submitter ⚠
- p.Val805Ala Single submitter ⚠
- p.Val813Met Single submitter ⚠
- p.Val846Ile Single submitter ⚠
- p.Val928Met Single submitter ⚠
- p.Asn991del No assertion criteria CPSF1-related disorder
- p.Lys686Asn No assertion criteria ⚠
- p.Pro1043Ser No assertion criteria CPSF1-related disorder ⚠
- p.Thr304Ala No assertion criteria CPSF1-related disorder ⚠
- p.Thr397Met No assertion criteria CPSF1-related disorder ⚠