CENPF — 919 ClinVar variants
All ClinVar germline CENPF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 506 flagged for review →
26 Pathogenic · 3 Pathogenic/Likely pathogenic · 35 Likely pathogenic · 30 Conflicting · 96 Benign · 32 Benign/Likely benign · 170 Likely benign · 527 Uncertain significance
Full CENPF gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 506
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 27
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CENPF p.Arg1642Gln
Conflicting
Single submitter
Stromme syndrome
-
CENPF p.Arg1775Gln
Conflicting
Single submitter
Inborn genetic diseases
-
CENPF p.Arg2145Cys
Conflicting
Single submitter
Inborn genetic diseases
-
CENPF p.Asp2313Asn
Conflicting
Single submitter
Inborn genetic diseases
- CENPF p.Cys1528Arg Conflicting Single submitter
-
CENPF p.Cys2276Gly
Conflicting
Single submitter
Inborn genetic diseases
- CENPF p.Gln1118Glu Conflicting Single submitter
-
CENPF p.Gln2549Lys
Conflicting
Single submitter
Inborn genetic diseases
-
CENPF p.Glu506Val
Conflicting
Single submitter
Inborn genetic diseases
- CENPF p.Glu865Asp Conflicting Single submitter
-
CENPF p.Gly1548Ser
Conflicting
Single submitter
Inborn genetic diseases
-
CENPF p.Gly2277Ala
Conflicting
Single submitter
Inborn genetic diseases
-
CENPF p.His2000Arg
Conflicting
Single submitter
Inborn genetic diseases
-
CENPF p.Ile2250Met
Conflicting
Single submitter
Inborn genetic diseases
-
CENPF p.Leu1057Arg
Conflicting
Single submitter
Inborn genetic diseases
-
CENPF p.Leu1310Val
Conflicting
Single submitter
Inborn genetic diseases
- CENPF p.Lys1271Glu Conflicting Single submitter
-
CENPF p.Lys2519Glu
Conflicting
Single submitter
Inborn genetic diseases
-
CENPF p.Met1970Val
Conflicting
Single submitter
Stromme syndrome
-
CENPF p.Met2442Ile
Conflicting
Single submitter
Inborn genetic diseases
-
CENPF p.Pro2291Ser
Conflicting
Single submitter
Inborn genetic diseases
- CENPF p.Ser1507Phe Conflicting Single submitter
-
CENPF p.Thr1451Met
Conflicting
Single submitter
Inborn genetic diseases
-
CENPF p.Thr2389Ser
Conflicting
Single submitter
Inborn genetic diseases
-
CENPF p.Tyr1206Cys
Conflicting
Single submitter
Stromme syndrome
-
CENPF p.Tyr1438Cys
Conflicting
Single submitter
Inborn genetic diseases
-
CENPF p.Val2009Ala
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 463
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 463
-
CENPF p.Ala1268Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CENPF p.Ala1626Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CENPF p.Ala1714Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CENPF p.Ala2616Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CENPF p.Arg1325Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CENPF p.Arg1653Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CENPF p.Arg178Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CENPF p.Arg1964Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CENPF p.Arg209Trp Uncertain significance Multiple submitters
- CENPF p.Arg2309His Uncertain significance Multiple submitters
- CENPF p.Arg3053Gln Uncertain significance Multiple submitters
-
CENPF p.Arg3078Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CENPF p.Arg405Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CENPF p.Asn1452Ser
Uncertain significance
Multiple submitters
Stromme syndrome
-
CENPF p.Asn2269Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CENPF p.Asn2451Ser
Uncertain significance
Multiple submitters
Stromme syndrome
-
CENPF p.Asp1659Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CENPF p.Cys414Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CENPF p.Gln116Glu
Uncertain significance
Multiple submitters
Stromme syndrome
-
CENPF p.Gln2076His
Uncertain significance
Multiple submitters
Stromme syndrome
-
CENPF p.Gln2223Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CENPF p.Gln387Glu Uncertain significance Multiple submitters
-
CENPF p.Gln632Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CENPF p.Gln820Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CENPF p.Gln974Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CENPF p.Glu1748Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CENPF p.Glu1803Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CENPF p.Glu1986Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CENPF p.Glu2842Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CENPF p.Glu2940Gln
Uncertain significance
Multiple submitters
Stromme syndrome
-
CENPF p.His1403Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CENPF p.His2871Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CENPF p.Ile2696Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CENPF p.Leu1089Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CENPF p.Leu2334Phe
Uncertain significance
Multiple submitters
Stromme syndrome
-
CENPF p.Leu2760Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CENPF p.Leu364Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CENPF p.Lys2731Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CENPF p.Lys529Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CENPF p.Lys606Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CENPF p.Met670Ile
Uncertain significance
Multiple submitters
Stromme syndrome
- CENPF p.Pro1717His Uncertain significance Multiple submitters
-
CENPF p.Ser1543Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CENPF p.Ser1905Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CENPF p.Ser1909Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CENPF p.Ser2436Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CENPF p.Thr1631Met Uncertain significance Multiple submitters
-
CENPF p.Thr1682Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CENPF p.Thr2013Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CENPF p.Thr2189Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CENPF p.Thr3039Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CENPF p.Thr729Ile
Uncertain significance
Multiple submitters
Stromme syndrome
- CENPF p.Tyr357Cys Uncertain significance Multiple submitters
-
CENPF p.Val2009Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CENPF p.Ala1546Val Uncertain significance Single submitter
-
CENPF p.Ala1625Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Ala1625Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Ala1714Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Ala1824Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Ala1887Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Ala190Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Ala193Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Ala1976Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Ala2096Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Ala2139Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Ala2312Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Ala243Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- CENPF p.Ala2697Thr Uncertain significance Single submitter
-
CENPF p.Ala2822Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Ala2857Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Ala2877Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Ala466Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Ala499Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CENPF p.Ala528Thr Uncertain significance Single submitter
-
CENPF p.Arg1175Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- CENPF p.Arg1538Gly Uncertain significance Single submitter
-
CENPF p.Arg1560Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Arg1560Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Arg1667Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Arg1793Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Arg1960Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Arg2147Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Arg2309Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Arg2309Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Arg2381Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Arg2407Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Arg256Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Arg264Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CENPF p.Arg2790His Uncertain significance Single submitter
-
CENPF p.Arg291Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Arg3003Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- CENPF p.Arg3053Trp Uncertain significance Single submitter
-
CENPF p.Arg3063Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Arg3094Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Arg402His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Arg405His
Uncertain significance
Single submitter
Inborn genetic diseases
- CENPF p.Arg462Gly Uncertain significance Single submitter
-
CENPF p.Arg478Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Arg479Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- CENPF p.Arg567Gly Uncertain significance Single submitter
- CENPF p.Arg751Trp Uncertain significance Single submitter
-
CENPF p.Arg884His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Asn1002Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Asn1002Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- CENPF p.Asn1058Lys Uncertain significance Single submitter
-
CENPF p.Asn1186Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Asn1186His
Uncertain significance
Single submitter
Inborn genetic diseases
- CENPF p.Asn1284Lys Uncertain significance Single submitter
-
CENPF p.Asn1286Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Asn1455Ser
Uncertain significance
Single submitter
Stromme syndrome
-
CENPF p.Asn1703Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Asn1902Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Asn203Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Asn2214Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Asn231Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- CENPF p.Asn2351Lys Uncertain significance Single submitter
- CENPF p.Asn2555Lys Uncertain significance Single submitter
-
CENPF p.Asn3073Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- CENPF p.Asn3110Ser Uncertain significance Single submitter
-
CENPF p.Asn517Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Asn521Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- CENPF p.Asn684Lys Uncertain significance Single submitter
-
CENPF p.Asn866Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Asp1038Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Asp1263Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Asp136Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Asp136Gly
Uncertain significance
Single submitter
Stromme syndrome
- CENPF p.Asp1423Glu Uncertain significance Single submitter
-
CENPF p.Asp1423Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- CENPF p.Asp1689Gly Uncertain significance Single submitter
-
CENPF p.Asp1695Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Asp1705Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CENPF p.Asp1792Glu Uncertain significance Single submitter
- CENPF p.Asp1794Tyr Uncertain significance Single submitter
-
CENPF p.Asp1881Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Asp1891Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Asp1891His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Asp1968His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Asp2176Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Asp2332Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Asp2581Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Asp2679Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Asp272Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Asp281Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Asp2833Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- CENPF p.Asp2837Asn Uncertain significance Single submitter
-
CENPF p.Asp2858Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Asp539Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- CENPF p.Asp755Glu Uncertain significance Single submitter
-
CENPF p.Asp819Glu
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 16
The independent predictors disagree with each other — read with care.
- CENPF p.Phe39Leu Uncertain significance Multiple submitters
-
CENPF p.Ala1625Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Ala16Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Ala208Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CENPF p.Ala2095Pro Uncertain significance Single submitter
- CENPF p.Arg15Thr Uncertain significance Single submitter
-
CENPF p.Glu2113Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Gly102Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.His714Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Leu1310Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Leu2324Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Leu944Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- CENPF p.Lys2931Asn Uncertain significance Single submitter
-
CENPF p.Ser1015Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CENPF p.Ser2072Pro
Conflicting
Single submitter
Stromme syndrome
-
CENPF p.Ser3012Arg
Uncertain significance
Single submitter
Inborn genetic diseases
All CENPF variants
Pathogenic 26
- c.1323+1G>A Multiple submitters Stromme syndrome
- p.Arg2898Ter Multiple submitters Stromme syndrome
- p.Asp2679fs Multiple submitters Stromme syndrome
- p.Glu1257Ter Multiple submitters Stromme syndrome
- p.Glu582Ter Multiple submitters Stromme syndrome
- c.4986+1G>T Single submitter
- c.574-2A>C Single submitter Stromme syndrome
- c.8161-1G>C Single submitter Stromme syndrome
- p.Arg178Ter Single submitter
- p.Asn1168delinsLysThrTer Single submitter Stromme syndrome
- p.Asn57fs Single submitter Stromme syndrome
- p.Gln1235Ter Single submitter Stromme syndrome
- p.Gln2298Ter Single submitter
- p.Gln408Ter Single submitter
- p.Glu1104fs Single submitter
- p.Glu1172fs Single submitter Stromme syndrome
- p.Glu2634Ter Single submitter
- p.Glu2736Ter Single submitter
- p.Glu393fs Single submitter Stromme syndrome
- p.Gly1713fs Single submitter
- p.Ser1255Ter Single submitter Stromme syndrome
- p.Ser2929Ter Single submitter Neurodevelopmental delay
- p.Thr1974fs Single submitter Stromme syndrome
- p.Thr253fs Single submitter
- p.Thr2997fs Single submitter Stromme syndrome
- p.Glu912Ter No assertion criteria Stromme syndrome
Pathogenic/Likely pathogenic 3
- p.Arg1667Ter Multiple submitters Stromme syndrome
- p.Arg2407Ter Multiple submitters Stromme syndrome
- p.Glu342fs Multiple submitters Stromme syndrome
Likely pathogenic 35
- c.1195-2A>G Multiple submitters Stromme syndrome
- c.1323+1G>C Single submitter
- c.1447-1G>T Single submitter Susceptibility to severe COVID-19
- c.359+2T>G Single submitter Stromme syndrome
- c.4986+1G>C Single submitter Stromme syndrome
- c.8161-1G>A Single submitter Stromme syndrome
- c.8322+1G>T Single submitter
- p.Arg3014fs Single submitter Stromme syndrome
- p.Arg3094Ter Single submitter Stromme syndrome
- p.Arg375Ter Single submitter
- p.Asp1397fs Single submitter Stromme syndrome
- p.Gln1139Ter Single submitter Stromme syndrome
- p.Gln133Ter Single submitter Stromme syndrome
- p.Gln2249fs Single submitter
- p.Gln2317Ter Single submitter
- p.Gln2818fs Single submitter
- p.Gln995Ter Single submitter Stromme syndrome
- p.Glu1391Ter Single submitter
- p.Glu1982fs Single submitter
- p.Glu251fs Single submitter Stromme syndrome
- p.Glu2547Ter Single submitter Stromme syndrome
- p.Glu333fs Single submitter cystinuria
- p.Glu361Ter Single submitter
- p.Ile1907Ter Single submitter Stromme syndrome
- p.Leu2124fs Single submitter
- p.Lys2709fs Single submitter primary ciliary dyskinesia 29
- p.Lys543_Ile544insTer Single submitter
- p.Ser1205fs Single submitter Stromme syndrome
- p.Ser838Ter Single submitter Stromme syndrome
- p.Val1927fs Single submitter Stromme syndrome
- p.Ala2130fs No assertion criteria
- p.Asp1938fs No assertion criteria CENPF-related disorder
- p.Gln2034Ter No assertion criteria CENPF-related disorder
- p.Glu2859Ter No assertion criteria
- p.Val2126_Glu2129delinsTer No assertion criteria
Conflicting classifications of pathogenicity 30
- p.Arg1642Gln Single submitter Stromme syndrome ⚠
- p.Arg1775Gln Single submitter Inborn genetic diseases ⚠
- p.Arg2145Cys Single submitter Inborn genetic diseases ⚠
- p.Asp2313Asn Single submitter Inborn genetic diseases ⚠
- p.Cys1528Arg Single submitter ⚠
- p.Cys2276Gly Single submitter Inborn genetic diseases ⚠
- p.Gln1118Glu Single submitter ⚠
- p.Gln2549Lys Single submitter Inborn genetic diseases ⚠
- p.Gln352Arg Single submitter
- p.Glu506Val Single submitter Inborn genetic diseases ⚠
- p.Glu865Asp Single submitter ⚠
- p.Gly1548Ser Single submitter Inborn genetic diseases ⚠
- p.Gly2277Ala Single submitter Inborn genetic diseases ⚠
- p.His2000Arg Single submitter Inborn genetic diseases ⚠
- p.Ile2250Met Single submitter Inborn genetic diseases ⚠
- p.Leu1057Arg Single submitter Inborn genetic diseases ⚠
- p.Leu1310Val Single submitter Inborn genetic diseases ⚠
- p.Leu1846= Single submitter
- p.Lys1271Glu Single submitter ⚠
- p.Lys2519Glu Single submitter Inborn genetic diseases ⚠
- p.Met1970Val Single submitter Stromme syndrome ⚠
- p.Met2442Ile Single submitter Inborn genetic diseases ⚠
- p.Pro2291Ser Single submitter Inborn genetic diseases ⚠
- p.Ser1507Phe Single submitter ⚠
- p.Ser2072Pro Single submitter Stromme syndrome ⚠
- p.Thr1451Met Single submitter Inborn genetic diseases ⚠
- p.Thr2389Ser Single submitter Inborn genetic diseases ⚠
- p.Tyr1206Cys Single submitter Stromme syndrome ⚠
- p.Tyr1438Cys Single submitter Inborn genetic diseases ⚠
- p.Val2009Ala Single submitter Inborn genetic diseases ⚠
Benign 96
- c.1069-90C>T Multiple submitters
- c.1323+36C>A Multiple submitters
- c.1447-35G>A Multiple submitters
- c.162+171A>G Multiple submitters
- c.4986+48G>A Multiple submitters
- c.4986+51C>T Multiple submitters
- c.7831-203A>C Multiple submitters
- c.7831-59G>A Multiple submitters
- c.8161-86T>C Multiple submitters
- c.8322+138C>A Multiple submitters
- c.8322+32G>A Multiple submitters
- c.8323-151C>G Multiple submitters
- c.8485+142A>G Multiple submitters
- c.8485+66A>G Multiple submitters
- c.*199G>A Multiple submitters
- c.*73T>C Multiple submitters
- p.Ala1515Thr Multiple submitters Stromme syndrome
- p.Ala2139Thr Multiple submitters Stromme syndrome
- p.Ala2356Val Multiple submitters Stromme syndrome
- p.Arg2729Gln Multiple submitters Stromme syndrome
- p.Arg2943Gly Multiple submitters Stromme syndrome
- p.Arg300Cys Multiple submitters
- p.Arg382Lys Multiple submitters
- p.Arg672= Multiple submitters
- p.Arg815His Multiple submitters Stromme syndrome
- p.Arg967= Multiple submitters
- p.Asn1703Ser Multiple submitters
- p.Asn2396Asp Multiple submitters Stromme syndrome
- p.Asn3106Lys Multiple submitters Stromme syndrome
- p.Asp1768Asn Multiple submitters Stromme syndrome
- p.Asp1978Gly Multiple submitters Stromme syndrome
- p.Asp2776= Multiple submitters
- p.Gln2225Arg Multiple submitters Stromme syndrome
- p.Gln754Glu Multiple submitters Stromme syndrome
- p.Glu1145Asp Multiple submitters
- p.Glu2011Ala Multiple submitters Stromme syndrome
- p.Glu2328= Multiple submitters
- p.Glu2462= Multiple submitters Stromme syndrome
- p.Gly1033Arg Multiple submitters Stromme syndrome
- p.Gly11= Multiple submitters Stromme syndrome
- p.His1770Gln Multiple submitters Stromme syndrome
- p.His494Gln Multiple submitters Stromme syndrome
- p.Leu1412Ser Multiple submitters Stromme syndrome
- p.Leu1487= Multiple submitters Stromme syndrome
- p.Leu188= Multiple submitters
- p.Leu2527= Multiple submitters Stromme syndrome
- p.Leu2537= Multiple submitters Stromme syndrome
- p.Leu602= Multiple submitters Stromme syndrome
- p.Leu964= Multiple submitters Stromme syndrome
- p.Lys1539Arg Multiple submitters
- p.Met701Val Multiple submitters Stromme syndrome
- p.Met793Arg Multiple submitters
- p.Ser2044Leu Multiple submitters Stromme syndrome
- p.Thr1105Ile Multiple submitters Stromme syndrome
- p.Tyr1018Asp Multiple submitters Stromme syndrome
- p.Val2585Met Multiple submitters
- c.1068+170C>T Single submitter
- c.1068+275T>C Single submitter
- c.1324-291G>A Single submitter
- c.1324-321C>T Single submitter
- c.1583-203A>G Single submitter
- c.162+204_162+205dup Single submitter
- c.162+205dup Single submitter
- c.162+284A>G Single submitter
- c.360-304C>G Single submitter
- c.482-192A>G Single submitter
- c.574-185G>A Single submitter
- c.7830+190A>G Single submitter
- c.7831-317del Single submitter
- c.7983+271C>T Single submitter
- c.8160+196_8160+200dup Single submitter
- c.8160+199_8160+200del Single submitter
- c.8160+200del Single submitter
- c.8160+200dup Single submitter
- c.8160+71_8160+72dup Single submitter
- c.8160+72dup Single submitter
- c.8161-195_8161-194del Single submitter
- c.8161-299T>C Single submitter
- c.8161-323A>G Single submitter
- c.8323-226A>G Single submitter
- c.8323-234T>C Single submitter
- c.8323-273dup Single submitter
- c.8323-281T>C Single submitter
- c.8485+221A>G Single submitter
- c.8485+264G>A Single submitter
- c.8486-100del Single submitter
- c.8486-134A>T Single submitter
- c.865+237C>G Single submitter
- c.865+267T>A Single submitter
- c.8962+156A>G Single submitter
- c.8962+332C>T Single submitter
- p.Ala466= Single submitter
- p.Arg1879His Single submitter
- p.Glu2553Lys Single submitter
- p.Leu1317= Single submitter
- p.Ser2302Asn Single submitter
Benign/Likely benign 32
- c.1068+15G>A Multiple submitters
- c.1447-4T>C Multiple submitters
- c.8963-9dup Multiple submitters
- p.Ala1208Val Multiple submitters
- p.Ala1268Gly Multiple submitters Inborn genetic diseases
- p.Ala285= Multiple submitters
- p.Ala419= Multiple submitters
- p.Arg1879Cys Multiple submitters Stromme syndrome
- p.Arg1964His Multiple submitters
- p.Asp891= Multiple submitters
- p.Gln1041= Multiple submitters
- p.Gln2038Pro Multiple submitters
- p.Gln2323= Multiple submitters
- p.Gln2515Pro Multiple submitters
- p.Glu2259Ala Multiple submitters
- p.His1082Tyr Multiple submitters Stromme syndrome
- p.His757= Multiple submitters
- p.Ile415Leu Multiple submitters
- p.Leu1103= Multiple submitters
- p.Leu1490= Multiple submitters
- p.Leu3027= Multiple submitters Stromme syndrome
- p.Met701Leu Multiple submitters
- p.Pro2912= Multiple submitters
- p.Ser1123= Multiple submitters
- p.Ser1430Cys Multiple submitters
- p.Ser1494= Multiple submitters
- p.Ser1954= Multiple submitters
- p.Ser2502= Multiple submitters
- p.Ser406= Multiple submitters
- p.Thr1394= Multiple submitters
- p.Thr1975Met Multiple submitters
- p.Val2184Ile Multiple submitters
Likely benign 170
- c.1323+104G>A Multiple submitters
- c.1323+10G>A Multiple submitters
- c.359+212C>T Multiple submitters
- c.359+56C>T Multiple submitters
- c.4987-44T>C Multiple submitters
- c.574-130G>A Multiple submitters
- c.8161-167C>T Multiple submitters
- c.8322+39T>G Multiple submitters
- c.-41-257T>C Multiple submitters
- p.Arg1793His Multiple submitters
- p.Arg2934= Multiple submitters
- p.Asn2169= Multiple submitters
- p.Asp1263= Multiple submitters
- p.Gln110= Multiple submitters
- p.Gln547= Multiple submitters
- p.His2887= Multiple submitters
- p.Ile800Val Multiple submitters female infertility
- p.Leu104= Multiple submitters
- p.Met1297Val Multiple submitters
- p.Met2282Val Multiple submitters
- p.Ser162= Multiple submitters
- p.Ser2606= Multiple submitters
- p.Thr1240= Multiple submitters
- p.Thr1974= Multiple submitters
- c.1194+173T>C Single submitter
- c.1195-332T>C Single submitter
- c.1323+13TC[8] Single submitter
- c.1323+9C>T Single submitter
- c.1324-190C>T Single submitter
- c.1324-336dup Single submitter
- c.1324-38A>G Single submitter
- c.1446+18C>T Single submitter
- c.1447-244A>C Single submitter
- c.1447-259G>A Single submitter
- c.1447-332A>G Single submitter
- c.162+268G>C Single submitter
- c.162+300A>G Single submitter
- c.162+301C>T Single submitter
- c.162+55G>C Single submitter
- c.360-14T>C Single submitter
- c.360-266C>T Single submitter
- c.481+212G>T Single submitter
- c.482-123C>G Single submitter
- c.4987-179C>T Single submitter
- c.4987-182G>A Single submitter
- c.573+16G>T Single submitter
- c.573+263A>G Single submitter
- c.7830+22_7830+27del Single submitter
- c.7831-12A>T Single submitter
- c.7984-16T>G Single submitter
- c.8160+198_8160+200del Single submitter
- c.8160+275G>A Single submitter
- c.8160+299G>A Single submitter
- c.8161-239G>A Single submitter
- c.8486-276G>A Single submitter
- c.865+12C>T Single submitter
- c.865+306G>A Single submitter
- c.866-115G>T Single submitter
- c.8962+253T>C Single submitter
- c.8962+297G>A Single submitter
- c.8962+301C>T Single submitter
- c.8962+330A>G Single submitter
- c.9141+10T>C Single submitter
- c.9141+140G>A Single submitter
- c.-41-312C>A Single submitter
- p.Ala1208= Single submitter
- p.Ala1268= Single submitter
- p.Ala132= Single submitter
- p.Ala1625= Single submitter
- p.Ala1626= Single submitter
- p.Ala285Val Single submitter Inborn genetic diseases
- p.Ala325Thr Single submitter Inborn genetic diseases
- p.Ala353= Single submitter
- p.Ala905= Single submitter
- p.Arg1185= Single submitter
- p.Arg2559= Single submitter
- p.Arg256= Single submitter
- p.Arg2702= Single submitter
- p.Arg2920Lys Single submitter Inborn genetic diseases
- p.Arg300= Single submitter
- p.Arg402Cys Single submitter
- p.Asn1783= Single submitter
- p.Asn1939= Single submitter
- p.Asn2158Ser Single submitter
- p.Asp1244= Single submitter
- p.Asp1891= Single submitter
- p.Asp586Glu Single submitter Inborn genetic diseases
- p.Gln100= Single submitter
- p.Gln1817= Single submitter
- p.Gln2431= Single submitter
- p.Gln2726= Single submitter
- p.Gln632= Single submitter
- p.Gln704Arg Single submitter
- p.Gln914= Single submitter
- p.Glu1564Lys Single submitter Inborn genetic diseases
- p.Glu1639= Single submitter
- p.Glu1720= Single submitter
- p.Glu1990= Single submitter
- p.Glu2014Gln Single submitter Inborn genetic diseases
- p.Glu2294Gln Single submitter Inborn genetic diseases
- p.Glu2491= Single submitter
- p.Glu3086= Single submitter
- p.Glu840= Single submitter
- p.Gly1260= Single submitter
- p.Gly25= Single submitter
- p.Gly2988= Single submitter
- p.His1688= Single submitter
- p.His2032= Single submitter
- p.His227Arg Single submitter Inborn genetic diseases
- p.His2682Gln Single submitter Inborn genetic diseases
- p.Ile148= Single submitter
- p.Ile2138= Single submitter
- p.Ile2913Val Single submitter Inborn genetic diseases
- p.Leu1026= Single submitter
- p.Leu1421= Single submitter
- p.Leu1466= Single submitter
- p.Leu1472= Single submitter
- p.Leu1563= Single submitter
- p.Leu1584= Single submitter
- p.Leu1811= Single submitter
- p.Leu2026= Single submitter
- p.Leu2136= Single submitter
- p.Leu2739= Single submitter
- p.Leu2767= Single submitter
- p.Leu2812= Single submitter
- p.Leu44= Single submitter
- p.Leu460= Single submitter
- p.Leu767= Single submitter
- p.Leu79= Single submitter
- p.Lys1022= Single submitter
- p.Lys2070Arg Single submitter Inborn genetic diseases
- p.Lys2785= Single submitter
- p.Lys942= Single submitter
- p.Met1570Ile Single submitter Inborn genetic diseases
- p.Met431Thr Single submitter Inborn genetic diseases
- p.Met793Val Single submitter Inborn genetic diseases
- p.Phe217= Single submitter
- p.Pro2908= Single submitter
- p.Ser1430= Single submitter
- p.Ser229= Single submitter
- p.Thr1296Ala Single submitter Inborn genetic diseases
- p.Thr1969= Single submitter
- p.Thr2971= Single submitter
- p.Thr3067Met Single submitter Stromme syndrome
- p.Thr535= Single submitter
- p.Thr892= Single submitter
- p.Tyr350= Single submitter
- p.Val2098Met Single submitter Inborn genetic diseases
- p.Val2206= Single submitter
- p.Val677= Single submitter
- p.Ala2046= No assertion criteria CENPF-related disorder
- p.Ala2095= No assertion criteria CENPF-related disorder
- p.Asp1005His No assertion criteria CENPF-related disorder
- p.Gln1376= No assertion criteria CENPF-related disorder
- p.Gln2820= No assertion criteria CENPF-related disorder
- p.Glu2452= No assertion criteria CENPF-related disorder
- p.Gly2964= No assertion criteria CENPF-related disorder
- p.His2137= No assertion criteria CENPF-related disorder
- p.His2330= No assertion criteria CENPF-related disorder
- p.Ile2121= No assertion criteria CENPF-related disorder
- p.Leu1857= No assertion criteria CENPF-related disorder
- p.Leu941= No assertion criteria CENPF-related disorder
- p.Leu944= No assertion criteria CENPF-related disorder
- p.Lys2305= No assertion criteria CENPF-related disorder
- p.Met1253Leu No assertion criteria CENPF-related disorder
- p.Ser1635= No assertion criteria CENPF-related disorder
- p.Ser2074= No assertion criteria CENPF-related disorder
- p.Ser242= No assertion criteria CENPF-related disorder
- p.Val2454= No assertion criteria CENPF-related disorder
- p.Val832= No assertion criteria CENPF-related disorder
Uncertain significance 527
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala1268Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala1626Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala1714Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala212Asp Multiple submitters Inborn genetic diseases
- p.Ala2616Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg1325Lys Multiple submitters Inborn genetic diseases ⚠
- p.Arg1653Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg178Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg1964Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg209Gln Multiple submitters Inborn genetic diseases
- p.Arg209Trp Multiple submitters ⚠
- p.Arg2309His Multiple submitters ⚠
- p.Arg3003= Multiple submitters
- p.Arg3053Gln Multiple submitters ⚠
- p.Arg3078Lys Multiple submitters Inborn genetic diseases ⚠
- p.Arg405Cys Multiple submitters Inborn genetic diseases ⚠
- p.Asn1452Ser Multiple submitters Stromme syndrome ⚠
- p.Asn2269Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn2451Ser Multiple submitters Stromme syndrome ⚠
- p.Asp136Val Multiple submitters Inborn genetic diseases
- p.Asp1659Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp206Asn Multiple submitters Inborn genetic diseases
- p.Cys414Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Gln116Glu Multiple submitters Stromme syndrome ⚠
- p.Gln2076His Multiple submitters Stromme syndrome ⚠
- p.Gln2223Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gln387Glu Multiple submitters ⚠
- p.Gln632Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gln820Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gln974Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu1748Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu1803Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu1986Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu2842Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu2940Gln Multiple submitters Stromme syndrome ⚠
- p.His1403Tyr Multiple submitters Inborn genetic diseases ⚠
- p.His2871Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ile2696Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu1089Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu2334Phe Multiple submitters Stromme syndrome ⚠
- p.Leu2760Met Multiple submitters Inborn genetic diseases ⚠
- p.Leu322Pro Multiple submitters Inborn genetic diseases
- p.Leu364Val Multiple submitters Inborn genetic diseases ⚠
- p.Lys2731Ile Multiple submitters Inborn genetic diseases ⚠
- p.Lys2774= Multiple submitters
- p.Lys529Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys606Glu Multiple submitters Inborn genetic diseases ⚠
- p.Met670Ile Multiple submitters Stromme syndrome ⚠
- p.Phe39Leu Multiple submitters ⚠
- p.Pro1717His Multiple submitters ⚠
- p.Ser1543Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser1905Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser1909Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser215Pro Multiple submitters Inborn genetic diseases
- p.Ser2436Leu Multiple submitters Inborn genetic diseases ⚠
- p.Thr1631Met Multiple submitters ⚠
- p.Thr1682Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr2013Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr2189Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr3039Arg Multiple submitters Inborn genetic diseases ⚠
- p.Thr729Ile Multiple submitters Stromme syndrome ⚠
- p.Tyr357Cys Multiple submitters ⚠
- p.Val2009Leu Multiple submitters Inborn genetic diseases ⚠
- c.7983+2_7983+3insG Single submitter Stromme syndrome
- c.8485+3G>C Single submitter
- c.9142-2A>C Single submitter
- c.-42+2511C>T Single submitter Stromme syndrome
- p.Ala1546Val Single submitter ⚠
- p.Ala1625Gly Single submitter Inborn genetic diseases ⚠
- p.Ala1625Pro Single submitter Inborn genetic diseases ⚠
- p.Ala1625Val Single submitter Inborn genetic diseases ⚠
- p.Ala16Gly Single submitter Inborn genetic diseases ⚠
- p.Ala1714Val Single submitter Inborn genetic diseases ⚠
- p.Ala1824Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1887Asp Single submitter Inborn genetic diseases ⚠
- p.Ala190Asp Single submitter Inborn genetic diseases ⚠
- p.Ala193Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1976Ser Single submitter Inborn genetic diseases ⚠
- p.Ala208Val Single submitter Inborn genetic diseases ⚠
- p.Ala2095Pro Single submitter ⚠
- p.Ala2096Thr Single submitter Inborn genetic diseases ⚠
- p.Ala2139Val Single submitter Inborn genetic diseases ⚠
- p.Ala2312Gly Single submitter Inborn genetic diseases ⚠
- p.Ala243Pro Single submitter Inborn genetic diseases ⚠
- p.Ala2697Thr Single submitter ⚠
- p.Ala2822Ser Single submitter Inborn genetic diseases ⚠
- p.Ala2857Ser Single submitter Inborn genetic diseases ⚠
- p.Ala2877Gly Single submitter Inborn genetic diseases ⚠
- p.Ala437Pro Single submitter
- p.Ala466Val Single submitter Inborn genetic diseases ⚠
- p.Ala499Ser Single submitter Inborn genetic diseases ⚠
- p.Ala528Thr Single submitter ⚠
- p.Arg1175Gly Single submitter Inborn genetic diseases ⚠
- p.Arg1538Gly Single submitter ⚠
- p.Arg1560Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1560Trp Single submitter Inborn genetic diseases ⚠
- p.Arg15Thr Single submitter ⚠
- p.Arg1667Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1793Cys Single submitter Inborn genetic diseases ⚠
- p.Arg1960Lys Single submitter Inborn genetic diseases ⚠
- p.Arg205Cys Single submitter Inborn genetic diseases
- p.Arg2147Gln Single submitter Inborn genetic diseases ⚠
- p.Arg2309Cys Single submitter Inborn genetic diseases ⚠
- p.Arg2309Ser Single submitter Inborn genetic diseases ⚠
- p.Arg2381Ser Single submitter Inborn genetic diseases ⚠
- p.Arg2407Gln Single submitter Inborn genetic diseases ⚠
- p.Arg256Gln Single submitter Inborn genetic diseases ⚠
- p.Arg264Ser Single submitter Inborn genetic diseases ⚠
- p.Arg2790His Single submitter ⚠
- p.Arg291Lys Single submitter Inborn genetic diseases ⚠
- p.Arg3003Gln Single submitter Inborn genetic diseases ⚠
- p.Arg3053Trp Single submitter ⚠
- p.Arg3063Gln Single submitter Inborn genetic diseases ⚠
- p.Arg3094Leu Single submitter Inborn genetic diseases ⚠
- p.Arg402His Single submitter Inborn genetic diseases ⚠
- p.Arg405His Single submitter Inborn genetic diseases ⚠
- p.Arg462Gly Single submitter ⚠
- p.Arg478Lys Single submitter Inborn genetic diseases ⚠
- p.Arg479Gly Single submitter Inborn genetic diseases ⚠
- p.Arg567Gly Single submitter ⚠
- p.Arg751Trp Single submitter ⚠
- p.Arg884His Single submitter Inborn genetic diseases ⚠
- p.Asn1002Asp Single submitter Inborn genetic diseases ⚠
- p.Asn1002Lys Single submitter Inborn genetic diseases ⚠
- p.Asn1058Lys Single submitter ⚠
- p.Asn1186Asp Single submitter Inborn genetic diseases ⚠
- p.Asn1186His Single submitter Inborn genetic diseases ⚠
- p.Asn1284Lys Single submitter ⚠
- p.Asn1286Ser Single submitter Inborn genetic diseases ⚠
- p.Asn1298_Lys1299insAsn Single submitter
- p.Asn1455Ser Single submitter Stromme syndrome ⚠
- p.Asn1703Asp Single submitter Inborn genetic diseases ⚠
- p.Asn1902Ser Single submitter Inborn genetic diseases ⚠
- p.Asn203Ser Single submitter Inborn genetic diseases ⚠
- p.Asn2214Lys Single submitter Inborn genetic diseases ⚠
- p.Asn231Ile Single submitter Inborn genetic diseases ⚠
- p.Asn2351Lys Single submitter ⚠
- p.Asn2555Lys Single submitter ⚠
- p.Asn3073Lys Single submitter Inborn genetic diseases ⚠
- p.Asn3110Ser Single submitter ⚠
- p.Asn517Asp Single submitter Inborn genetic diseases ⚠
- p.Asn521Tyr Single submitter Inborn genetic diseases ⚠
- p.Asn684Lys Single submitter ⚠
- p.Asn866Ser Single submitter Inborn genetic diseases ⚠
- p.Asp1038Ala Single submitter Inborn genetic diseases ⚠
- p.Asp1263Glu Single submitter Inborn genetic diseases ⚠
- p.Asp136Glu Single submitter Inborn genetic diseases ⚠
- p.Asp136Gly Single submitter Stromme syndrome ⚠
- p.Asp1423Glu Single submitter ⚠
- p.Asp1423Gly Single submitter Inborn genetic diseases ⚠
- p.Asp1689Gly Single submitter ⚠
- p.Asp1695Val Single submitter Inborn genetic diseases ⚠
- p.Asp1705Val Single submitter Inborn genetic diseases ⚠
- p.Asp1792Glu Single submitter ⚠
- p.Asp1794Tyr Single submitter ⚠
- p.Asp1881Asn Single submitter Inborn genetic diseases ⚠
- p.Asp1891Gly Single submitter Inborn genetic diseases ⚠
- p.Asp1891His Single submitter Inborn genetic diseases ⚠
- p.Asp1968His Single submitter Inborn genetic diseases ⚠
- p.Asp2176Glu Single submitter Inborn genetic diseases ⚠
- p.Asp2230_Leu2232delinsLeuAsnGlu Single submitter Stromme syndrome
- p.Asp2290Ile Single submitter
- p.Asp2332Asn Single submitter Inborn genetic diseases ⚠
- p.Asp2581Glu Single submitter Inborn genetic diseases ⚠
- p.Asp2679Glu Single submitter Inborn genetic diseases ⚠
- p.Asp272Glu Single submitter Inborn genetic diseases ⚠
- p.Asp281Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp2833Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp2837Asn Single submitter ⚠
- p.Asp2858Glu Single submitter Inborn genetic diseases ⚠
- p.Asp539Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp755Glu Single submitter ⚠
- p.Asp819Glu Single submitter Inborn genetic diseases ⚠
- p.Cys1029Gly Single submitter Inborn genetic diseases ⚠
- p.Cys1055Ser Single submitter ⚠
- p.Cys1694Gly Single submitter Inborn genetic diseases ⚠
- p.Cys1721Arg Single submitter Inborn genetic diseases ⚠
- p.Cys1745Gly Single submitter Inborn genetic diseases ⚠
- p.Cys1998Arg Single submitter ⚠
- p.Cys2001Gly Single submitter Inborn genetic diseases ⚠
- p.Cys2052fs Single submitter
- p.Cys414Ser Single submitter Inborn genetic diseases ⚠
- p.Gln1083Arg Single submitter Inborn genetic diseases ⚠
- p.Gln1225Lys Single submitter Inborn genetic diseases ⚠
- p.Gln1239Arg Single submitter Inborn genetic diseases ⚠
- p.Gln130Arg Single submitter Inborn genetic diseases ⚠
- p.Gln1457Glu Single submitter Inborn genetic diseases ⚠
- p.Gln1610His Single submitter Inborn genetic diseases ⚠
- p.Gln1814Arg Single submitter Inborn genetic diseases ⚠
- p.Gln1854Arg Single submitter Inborn genetic diseases ⚠
- p.Gln1929Glu Single submitter Inborn genetic diseases ⚠
- p.Gln195Arg Single submitter Inborn genetic diseases ⚠
- p.Gln2352Glu Single submitter Inborn genetic diseases ⚠
- p.Gln2508Glu Single submitter Inborn genetic diseases ⚠
- p.Gln2549His Single submitter Stromme syndrome ⚠
- p.Gln2587His Single submitter Inborn genetic diseases ⚠
- p.Gln2720Arg Single submitter Stromme syndrome ⚠
- p.Gln2783His Single submitter Inborn genetic diseases ⚠
- p.Gln2804Arg Single submitter Inborn genetic diseases ⚠
- p.Gln349Arg Single submitter Inborn genetic diseases ⚠
- p.Gln412Glu Single submitter Inborn genetic diseases ⚠
- p.Gln533Glu Single submitter ⚠
- p.Gln571Glu Single submitter ⚠
- p.Gln889Arg Single submitter Inborn genetic diseases ⚠
- p.Gln96Arg Single submitter ⚠
- p.Glu1006Gly Single submitter Inborn genetic diseases ⚠
- p.Glu1081Val Single submitter Stromme syndrome ⚠
- p.Glu1102Asp Single submitter Inborn genetic diseases ⚠
- p.Glu1145Lys Single submitter Inborn genetic diseases ⚠
- p.Glu1152Ala Single submitter Inborn genetic diseases ⚠
- p.Glu1230Gly Single submitter Inborn genetic diseases ⚠
- p.Glu1265Gly Single submitter Inborn genetic diseases ⚠
- p.Glu1265Lys Single submitter Inborn genetic diseases ⚠
- p.Glu1270Gly Single submitter Inborn genetic diseases ⚠
- p.Glu1391Lys Single submitter Inborn genetic diseases ⚠
- p.Glu1409Gln Single submitter Inborn genetic diseases ⚠
- p.Glu1445Lys Single submitter Inborn genetic diseases ⚠
- p.Glu1591Gly Single submitter Inborn genetic diseases ⚠
- p.Glu1632Val Single submitter Inborn genetic diseases ⚠
- p.Glu1680Ala Single submitter Inborn genetic diseases ⚠
- p.Glu1724Lys Single submitter Inborn genetic diseases ⚠
- p.Glu1767Asp Single submitter Inborn genetic diseases ⚠
- p.Glu1767Lys Single submitter CENPF-related disorder ⚠
- p.Glu1915Asp Single submitter Inborn genetic diseases ⚠
- p.Glu1951Gly Single submitter Inborn genetic diseases ⚠
- p.Glu1990Lys Single submitter Inborn genetic diseases ⚠
- p.Glu1997Lys Single submitter Inborn genetic diseases ⚠
- p.Glu2025Asp Single submitter Inborn genetic diseases ⚠
- p.Glu2041Gln Single submitter Inborn genetic diseases ⚠
- p.Glu2066Asp Single submitter Inborn genetic diseases ⚠
- p.Glu2071Asp Single submitter Inborn genetic diseases ⚠
- p.Glu2112Asp Single submitter ⚠
- p.Glu2113Lys Single submitter Inborn genetic diseases ⚠
- p.Glu2146Lys Single submitter Inborn genetic diseases ⚠
- p.Glu2157Ala Single submitter Inborn genetic diseases ⚠
- p.Glu2162Gly Single submitter Stromme syndrome
- p.Glu2192Gly Single submitter Inborn genetic diseases ⚠
- p.Glu2242Asp Single submitter ⚠
- p.Glu2244Gly Single submitter Inborn genetic diseases
- p.Glu2286Lys Single submitter Inborn genetic diseases ⚠
- p.Glu2296Lys Single submitter Inborn genetic diseases ⚠
- p.Glu22Asp Single submitter ⚠
- p.Glu2328Lys Single submitter Inborn genetic diseases ⚠
- p.Glu2346Ala Single submitter ⚠
- p.Glu2452Lys Single submitter Inborn genetic diseases
- p.Glu251Ala Single submitter Inborn genetic diseases ⚠
- p.Glu2522Gly Single submitter Inborn genetic diseases ⚠
- p.Glu2523Asp Single submitter Inborn genetic diseases ⚠
- p.Glu2545Lys Single submitter Inborn genetic diseases ⚠
- p.Glu2557_Leu2558del Single submitter
- p.Glu2594Ala Single submitter Inborn genetic diseases ⚠
- p.Glu2609Gly Single submitter Inborn genetic diseases ⚠
- p.Glu2666Asp Single submitter Inborn genetic diseases ⚠
- p.Glu2673Gly Single submitter Inborn genetic diseases ⚠
- p.Glu2695Lys Single submitter Inborn genetic diseases ⚠
- p.Glu2859Asp Single submitter Inborn genetic diseases ⚠
- p.Glu2972Gly Single submitter Inborn genetic diseases ⚠
- p.Glu307Lys Single submitter Inborn genetic diseases ⚠
- p.Glu333Lys Single submitter Inborn genetic diseases
- p.Glu369Ala Single submitter Inborn genetic diseases
- p.Glu379Gly Single submitter Inborn genetic diseases
- p.Glu398Lys Single submitter ⚠
- p.Glu455Gly Single submitter ⚠
- p.Glu506Gly Single submitter Inborn genetic diseases ⚠
- p.Glu508Gln Single submitter Inborn genetic diseases ⚠
- p.Glu554Ala Single submitter ⚠
- p.Glu673Gln Single submitter Inborn genetic diseases ⚠
- p.Glu68Gly Single submitter Inborn genetic diseases
- p.Glu736Lys Single submitter ⚠
- p.Glu761Gln Single submitter ⚠
- p.Glu880Lys Single submitter CENPF-related disorder ⚠
- p.Glu901Ala Single submitter Inborn genetic diseases ⚠
- p.Glu910Asp Single submitter ⚠
- p.Glu94Gly Single submitter Inborn genetic diseases
- p.Gly102Glu Single submitter Inborn genetic diseases ⚠
- p.Gly1243Glu Single submitter Inborn genetic diseases ⚠
- p.Gly1504Arg Single submitter Inborn genetic diseases ⚠
- p.Gly1514Ala Single submitter ⚠
- p.Gly1713Ser Single submitter Inborn genetic diseases ⚠
- p.Gly1735_Glu1748del Single submitter
- p.Gly1865Val Single submitter Inborn genetic diseases ⚠
- p.Gly2224Asp Single submitter Inborn genetic diseases ⚠
- p.Gly2224Ser Single submitter Inborn genetic diseases ⚠
- p.Gly2336Arg Single submitter Inborn genetic diseases ⚠
- p.Gly25Val Single submitter Inborn genetic diseases ⚠
- p.Gly2904Val Single submitter Inborn genetic diseases ⚠
- p.Gly2924Ser Single submitter Inborn genetic diseases ⚠
- p.Gly2942Ala Single submitter Inborn genetic diseases ⚠
- p.Gly3041Arg Single submitter Inborn genetic diseases ⚠
- p.Gly3087Val Single submitter Inborn genetic diseases ⚠
- p.Gly805Arg Single submitter Inborn genetic diseases ⚠
- p.Gly861Arg Single submitter Inborn genetic diseases ⚠
- p.His1425Tyr Single submitter Inborn genetic diseases ⚠
- p.His1812Arg Single submitter Inborn genetic diseases ⚠
- p.His1873Tyr Single submitter Inborn genetic diseases ⚠
- p.His2354Asp Single submitter ⚠
- p.His2682Pro Single submitter Inborn genetic diseases ⚠
- p.His2871Tyr Single submitter Inborn genetic diseases ⚠
- p.His2887Asn Single submitter Inborn genetic diseases ⚠
- p.His504Tyr Single submitter ⚠