CFAP46 — 215 ClinVar variants

All ClinVar germline CFAP46 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 169 flagged for review →

1 Conflicting · 41 Likely benign · 173 Uncertain significance

Full CFAP46 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 169

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.

CFAP46 p.Arg2657Cys Conflicting Single submitter

Predictors lean, ClinVar uncertain 162

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 162

Predictors split 6

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

All CFAP46 variants

Conflicting classifications of pathogenicity 1

p.Arg2657Cys Single submitter ⚠

Likely benign 41

p.Ala1981Glu Single submitter
p.Ala2294Val Single submitter
p.Ala2391Val Single submitter
p.Ala2654Val Single submitter
p.Ala453= Single submitter
p.Ala831= Single submitter
p.Arg1738Gln Single submitter
p.Arg1954Gln Single submitter
p.Arg2181His Single submitter
p.Arg2591Trp Single submitter
p.Arg2676Cys Single submitter
p.Arg484Ser Single submitter
p.Asn573= Single submitter
p.Asp1126Gly Single submitter ⚠
p.Asp2439Glu Single submitter
p.Asp677= Single submitter
p.Cys1641= Single submitter
p.Gln1083= Single submitter
p.Glu2547Gly Single submitter
p.Gly1991Ser Single submitter
p.His1463= Single submitter
p.Ile1662= Single submitter
p.Ile2214Val Single submitter
p.Ile2327Val Single submitter
p.Ile2707Val Single submitter
p.Leu1289= Single submitter
p.Leu1944= Single submitter
p.Lys1375Asn Single submitter
p.Pro2011Leu Single submitter
p.Pro2012Leu Single submitter
p.Pro203= Single submitter
p.Ser1849Arg Single submitter
p.Ser2666= Single submitter
p.Thr1697= Single submitter
p.Thr2096Met Single submitter
p.Thr2311Met Single submitter
p.Tyr1269= Single submitter
p.Val1246= Single submitter
p.Val1919Ile Single submitter
p.Val2268Ile Single submitter
p.Val2418Ile Single submitter

Uncertain significance 173

p.Ala1708Val Single submitter ⚠
p.Ala1742Glu Single submitter ⚠
p.Ala1742Val Single submitter ⚠
p.Ala1746Glu Single submitter ⚠
p.Ala1788Val Single submitter ⚠
p.Ala1806Val Single submitter ⚠
p.Ala1811Val Single submitter ⚠
p.Ala1871Val Single submitter ⚠
p.Ala1953Thr Single submitter ⚠
p.Ala1981Thr Single submitter ⚠
p.Ala2016Glu Single submitter ⚠
p.Ala2016Gly Single submitter ⚠
p.Ala2042Val Single submitter ⚠
p.Ala2062Ser Single submitter ⚠
p.Ala2114Val Single submitter ⚠
p.Ala2135Thr Single submitter ⚠
p.Ala2202Val Single submitter ⚠
p.Ala2470Val Single submitter ⚠
p.Ala2496Thr Single submitter ⚠
p.Ala2505Ser Single submitter ⚠
p.Ala2541Glu Single submitter ⚠
p.Ala2541Val Single submitter ⚠
p.Ala2578Thr Single submitter ⚠
p.Ala2595Thr Single submitter ⚠
p.Ala2595Val Single submitter ⚠
p.Ala2633Pro Single submitter ⚠
p.Ala2633Thr Single submitter ⚠
p.Ala2671Glu Single submitter ⚠
p.Ala2695Val Single submitter ⚠
p.Arg1719Gln Single submitter ⚠
p.Arg1738Trp Single submitter ⚠
p.Arg1794His Single submitter ⚠
p.Arg1928Trp Single submitter ⚠
p.Arg1954Gly Single submitter ⚠
p.Arg1961Thr Single submitter ⚠
p.Arg2024Thr Single submitter ⚠
p.Arg2098Ser Single submitter ⚠
p.Arg2124Trp Single submitter ⚠
p.Arg2136Cys Single submitter ⚠
p.Arg2136His Single submitter ⚠
p.Arg2181Gly Single submitter ⚠
p.Arg2211Cys Single submitter ⚠
p.Arg2211His Single submitter ⚠
p.Arg2230Gln Single submitter ⚠
p.Arg2230Trp Single submitter ⚠
p.Arg2356Gln Single submitter ⚠
p.Arg2366Cys Single submitter
p.Arg2401Trp Single submitter ⚠
p.Arg2512Gln Single submitter ⚠
p.Arg2512Gly Single submitter ⚠
p.Arg2512Trp Single submitter ⚠
p.Arg2532Cys Single submitter ⚠
p.Arg2532His Single submitter ⚠
p.Arg2550Gln Single submitter ⚠
p.Arg2556Gln Single submitter ⚠
p.Arg2572Gln Single submitter ⚠
p.Arg2677Gln Single submitter ⚠
p.Arg2677Pro Single submitter ⚠
p.Arg2685Gln Single submitter ⚠
p.Arg2685Trp Single submitter ⚠
p.Asn1707Ser Single submitter ⚠
p.Asn2107Ser Single submitter ⚠
p.Asn2159Lys Single submitter ⚠
p.Asp2077Ala Single submitter
p.Asp2298Asn Single submitter ⚠
p.Gln1803Arg Single submitter ⚠
p.Gln1851His Single submitter ⚠
p.Gln2037Glu Single submitter ⚠
p.Gln2149His Single submitter ⚠
p.Gln2466Arg Single submitter ⚠
p.Glu1752Gly Single submitter ⚠
p.Glu1801Lys Single submitter ⚠
p.Glu1823Lys Single submitter ⚠
p.Glu1898Val Single submitter ⚠
p.Glu2026Lys Single submitter ⚠
p.Glu2308Lys Single submitter ⚠
p.Glu2357Gly Single submitter
p.Glu2423Gln Single submitter ⚠
p.Glu2423Lys Single submitter ⚠
p.Glu2522Asp Single submitter ⚠
p.Glu2525Lys Single submitter ⚠
p.Glu2553Gly Single submitter ⚠
p.Gly1824Arg Single submitter ⚠
p.Gly1920Ser Single submitter ⚠
p.Gly1986Asp Single submitter ⚠
p.Gly2074Ser Single submitter ⚠
p.Gly2204Arg Single submitter ⚠
p.Gly2394Ser Single submitter ⚠
p.Gly2691Ser Single submitter ⚠
p.His1691Tyr Single submitter ⚠
p.His1974Pro Single submitter ⚠
p.His2334Arg Single submitter ⚠
p.His2460Arg Single submitter ⚠
p.His2620Asn Single submitter ⚠
p.His2622Asn Single submitter ⚠
p.His2622Pro Single submitter ⚠
p.Ile1767Thr Single submitter ⚠
p.Ile1829Thr Single submitter ⚠
p.Ile1888Val Single submitter ⚠
p.Ile1951Thr Single submitter ⚠
p.Ile2246Met Single submitter ⚠
p.Ile2707Leu Single submitter ⚠
p.Leu1722Val Single submitter ⚠
p.Leu1955Phe Single submitter ⚠
p.Leu1992Phe Single submitter ⚠
p.Leu1997Pro Single submitter ⚠
p.Leu2058Ile Single submitter ⚠
p.Leu2173Pro Single submitter
p.Leu2265Pro Single submitter ⚠
p.Leu2275Phe Single submitter ⚠
p.Leu2338Val Single submitter ⚠
p.Leu2486Pro Single submitter
p.Leu2669Pro Single submitter ⚠
p.Leu2694Ser Single submitter ⚠
p.Lys1713Arg Single submitter ⚠
p.Lys1770Glu Single submitter ⚠
p.Lys2305Glu Single submitter ⚠
p.Lys2369Glu Single submitter ⚠
p.Lys2416Arg Single submitter ⚠
p.Met1760Thr Single submitter ⚠
p.Met1884Val Single submitter ⚠
p.Pro1717Gln Single submitter ⚠
p.Pro2018Leu Single submitter ⚠
p.Pro2166Leu Single submitter ⚠
p.Pro2190Ser Single submitter ⚠
p.Pro2405Ser Single submitter ⚠
p.Pro2421Ser Single submitter ⚠
p.Pro2433Leu Single submitter ⚠
p.Pro2618Gln Single submitter ⚠
p.Pro2626Ser Single submitter ⚠
p.Pro2651Leu Single submitter ⚠
p.Ser1754Pro Single submitter ⚠
p.Ser1990Gly Single submitter ⚠
p.Ser2008Gly Single submitter ⚠
p.Ser2092Leu Single submitter ⚠
p.Ser2109Arg Single submitter ⚠
p.Ser2110Gly Single submitter ⚠
p.Ser2145Phe Single submitter ⚠
p.Ser2248Leu Single submitter ⚠
p.Ser2267Arg Single submitter ⚠
p.Ser2286Phe Single submitter ⚠
p.Ser2317Arg Single submitter ⚠
p.Ser2450Leu Single submitter ⚠
p.Ser2523Asn Single submitter ⚠
p.Ser2544Leu Single submitter ⚠
p.Ser2656Phe Single submitter ⚠
p.Thr1864Met Single submitter ⚠
p.Thr1913Ala Single submitter ⚠
p.Thr2129Asn Single submitter ⚠
p.Thr2154Ser Single submitter ⚠
p.Thr2167Ala Single submitter ⚠
p.Thr2167Ile Single submitter ⚠
p.Thr2449Met Single submitter ⚠
p.Thr2706Ala Single submitter ⚠
p.Trp2364Arg Single submitter ⚠
p.Trp2364Cys Single submitter ⚠
p.Trp2533Cys Single submitter ⚠
p.Trp2596Arg Single submitter ⚠
p.Tyr2183His Single submitter ⚠
p.Val1819Ile Single submitter ⚠
p.Val1850Ile Single submitter ⚠
p.Val1878Met Single submitter ⚠
p.Val1919fs Single submitter
p.Val1946Leu Single submitter ⚠
p.Val2052Glu Single submitter ⚠
p.Val2144Met Single submitter ⚠
p.Val2237Met Single submitter ⚠
p.Val2410Ile Single submitter ⚠
p.Val2419Met Single submitter ⚠
p.Val2491Ala Single submitter ⚠
p.Val2506Ile Single submitter ⚠
p.Val2682Ile Single submitter ⚠
p.Arg651Trp No assertion criteria Heterotaxy ⚠