CFAP65 — 81 ClinVar variants
All ClinVar germline CFAP65 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 41 flagged for review →
5 Pathogenic · 4 Likely pathogenic · 1 Conflicting · 10 Benign · 1 Benign/Likely benign · 22 Likely benign · 38 Uncertain significance
Full CFAP65 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 41
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
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CFAP65 p.Pro1729Arg
Conflicting
Single submitter
Non-syndromic male infertility due to sperm motility disorder
Predictors lean, ClinVar uncertain 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CFAP65 p.Ala1648Thr Uncertain significance Single submitter
- CFAP65 p.Ala215Thr Uncertain significance Single submitter
- CFAP65 p.Arg1156Trp Uncertain significance Single submitter
- CFAP65 p.Arg585Gln Uncertain significance Single submitter
- CFAP65 p.Arg714Cys Uncertain significance Single submitter
- CFAP65 p.Arg922Gln Uncertain significance Single submitter
- CFAP65 p.Asp639Asn Uncertain significance Single submitter
- CFAP65 p.Glu1036Lys Uncertain significance Single submitter
- CFAP65 p.Glu316Ala Uncertain significance Single submitter
- CFAP65 p.Glu866Lys Uncertain significance Single submitter
- CFAP65 p.His1298Leu Uncertain significance Single submitter
- CFAP65 p.His1511Arg Uncertain significance Single submitter
- CFAP65 p.Ile1240Val Uncertain significance Single submitter
- CFAP65 p.Ile394Thr Uncertain significance Single submitter
- CFAP65 p.Leu206Ile Uncertain significance Single submitter
- CFAP65 p.Leu33His Uncertain significance Single submitter
- CFAP65 p.Lys132Glu Uncertain significance Single submitter
- CFAP65 p.Lys803Arg Uncertain significance Single submitter
- CFAP65 p.Met110Ile Uncertain significance Single submitter
- CFAP65 p.Pro649Leu Uncertain significance Single submitter
- CFAP65 p.Thr1302Ala Uncertain significance Single submitter
- CFAP65 p.Gln1829Lys Uncertain significance No assertion criteria
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CFAP65 p.Gly155Ala
Uncertain significance
No assertion criteria
spermatogenic failure 40
-
CFAP65 p.Pro1477Ser
Uncertain significance
No assertion criteria
spermatogenic failure 40
-
CFAP65 p.Pro648Ser
Uncertain significance
No assertion criteria
spermatogenic failure 40
- CFAP65 p.Ser1011Thr Uncertain significance No assertion criteria
Predictors split 14
The independent predictors disagree with each other — read with care.
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CFAP65 p.Ala497Thr
Uncertain significance
Single submitter
spermatogenic failure 40
- CFAP65 p.Arg1142His Likely benign Single submitter
- CFAP65 p.Arg1458His Uncertain significance Single submitter
- CFAP65 p.Arg524Pro Uncertain significance Single submitter
- CFAP65 p.Arg760Gly Uncertain significance Single submitter
- CFAP65 p.Gly144Ser Uncertain significance Single submitter
- CFAP65 p.Leu1323Met Uncertain significance Single submitter
- CFAP65 p.Pro410Ser Uncertain significance Single submitter
- CFAP65 p.Pro671Ser Uncertain significance Single submitter
- CFAP65 p.Pro695Ser Likely benign Single submitter
- CFAP65 p.Ser907Leu Uncertain significance Single submitter
- CFAP65 p.Thr1381Ile Uncertain significance Single submitter
- CFAP65 p.Thr292Met Likely benign Single submitter
- CFAP65 p.Val137Met Uncertain significance Single submitter
All CFAP65 variants
Pathogenic 5
- p.Gln134Ter Single submitter
- p.Glu1781Ter Single submitter spermatogenic failure 40
- p.Arg762Ter No assertion criteria spermatogenic failure 40
- p.Leu527fs No assertion criteria spermatogenic failure 40
- p.Trp892Ter No assertion criteria spermatogenic failure 40
Likely pathogenic 4
- c.3602+1G>T Single submitter
- p.Glu1840Ter Single submitter Susceptibility to severe COVID-19
- p.Ile1450fs Single submitter spermatogenic failure 40
- p.Trp1201Ter Single submitter CFAP65-related disorder
Conflicting classifications of pathogenicity 1
- p.Pro1729Arg Single submitter Non-syndromic male infertility due to sperm motility disorder ⚠
Benign 10
- p.Arg1231= Multiple submitters
- p.Arg1545Gln Multiple submitters
- p.Arg760Gln Multiple submitters
- p.Ile1814= Multiple submitters
- p.Leu1127= Multiple submitters
- p.Leu1523= Multiple submitters
- p.Leu1906= Multiple submitters
- p.Pro1925= Multiple submitters
- p.Ser1656Pro Multiple submitters
- p.Val653Ile Multiple submitters
Benign/Likely benign 1
- p.Pro973= Multiple submitters
Likely benign 22
- c.2211+49C>T Single submitter
- p.Ala406Val Single submitter
- p.Arg1142His Single submitter ⚠
- p.Asp1208= Single submitter
- p.Asp1234Gly Single submitter
- p.Asp1313= Single submitter
- p.Lys1805= Single submitter
- p.Phe1188Leu Single submitter
- p.Pro1705= Single submitter
- p.Pro1921= Single submitter
- p.Pro391= Single submitter
- p.Pro695Ser Single submitter ⚠
- p.Pro719= Single submitter
- p.Ser1341= Single submitter
- p.Ser1395= Single submitter
- p.Thr1123= Single submitter
- p.Thr292Met Single submitter ⚠
- p.Thr320= Single submitter
- p.Thr5= Single submitter
- p.Val75= Single submitter
- p.Val820Ile Single submitter
- p.Phe1718Cys No assertion criteria CFAP65-related disorder
Uncertain significance 38
- p.Ala1648Thr Single submitter ⚠
- p.Ala215Thr Single submitter ⚠
- p.Ala497Thr Single submitter spermatogenic failure 40 ⚠
- p.Arg1156Trp Single submitter ⚠
- p.Arg1458His Single submitter ⚠
- p.Arg524Pro Single submitter ⚠
- p.Arg585Gln Single submitter ⚠
- p.Arg714Cys Single submitter ⚠
- p.Arg760Gly Single submitter ⚠
- p.Arg922Gln Single submitter ⚠
- p.Asp639Asn Single submitter ⚠
- p.Glu1036Lys Single submitter ⚠
- p.Glu316Ala Single submitter ⚠
- p.Glu866Lys Single submitter ⚠
- p.Gly144Ser Single submitter ⚠
- p.His1298Leu Single submitter ⚠
- p.His1511Arg Single submitter ⚠
- p.Ile1240Val Single submitter ⚠
- p.Ile394Thr Single submitter ⚠
- p.Leu1323Met Single submitter ⚠
- p.Leu206Ile Single submitter ⚠
- p.Leu33His Single submitter ⚠
- p.Lys132Glu Single submitter ⚠
- p.Lys803Arg Single submitter ⚠
- p.Met110Ile Single submitter ⚠
- p.Pro410Ser Single submitter ⚠
- p.Pro649Leu Single submitter ⚠
- p.Pro671Ser Single submitter ⚠
- p.Ser907Leu Single submitter ⚠
- p.Thr1302Ala Single submitter ⚠
- p.Thr1381Ile Single submitter ⚠
- p.Val137Met Single submitter ⚠
- c.542+58del No assertion criteria prostate cancer
- p.Gln1829Lys No assertion criteria ⚠
- p.Gly155Ala No assertion criteria spermatogenic failure 40 ⚠
- p.Pro1477Ser No assertion criteria spermatogenic failure 40 ⚠
- p.Pro648Ser No assertion criteria spermatogenic failure 40 ⚠
- p.Ser1011Thr No assertion criteria ⚠