CCDC168 — 654 ClinVar variants

All ClinVar germline CCDC168 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

11 Benign · 77 Likely benign · 566 Uncertain significance

Full CCDC168 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

All CCDC168 variants

Benign 11

p.Arg2140Gln Multiple submitters
p.Arg86= Multiple submitters
p.Asn6517Ser Multiple submitters
p.Cys4576Arg Multiple submitters
p.Glu4239Lys Multiple submitters
p.Gly1532Cys Multiple submitters
p.Ser4840= Multiple submitters
p.Ser5167= Multiple submitters
p.Val4761= Multiple submitters
p.Leu1414Phe Single submitter
p.Lys1321Arg Single submitter

Likely benign 77

p.Ala1675Val Single submitter
p.Ala2294Ser Single submitter
p.Ala5149Val Single submitter
p.Ala6887Val Single submitter
p.Arg1837Cys Single submitter
p.Arg2093Cys Single submitter
p.Arg2093His Single submitter
p.Arg5346Thr Single submitter
p.Arg5410Gln Single submitter
p.Arg5585Gln Single submitter
p.Arg5657Gln Single submitter
p.Arg6032Cys Single submitter
p.Arg6245Gln Single submitter
p.Asn1111Ser Single submitter
p.Asn6521Ser Single submitter
p.Asp3607Glu Single submitter
p.Asp5541Gly Single submitter
p.Cys3408Tyr Single submitter
p.Glu1544Lys Single submitter
p.Glu3939Lys Single submitter
p.Glu4649Lys Single submitter
p.Glu4892Lys Single submitter
p.Glu6386Gly Single submitter
p.Gly2264Ser Single submitter
p.Gly3752Ser Single submitter
p.Gly473Arg Single submitter
p.Gly5015Asp Single submitter
p.Gly5406Arg Single submitter
p.Gly999Arg Single submitter
p.His3932Arg Single submitter
p.Ile1165Thr Single submitter
p.Ile1805Thr Single submitter
p.Ile4900Val Single submitter
p.Ile6246Val Single submitter
p.Ile6371Val Single submitter
p.Leu1746Val Single submitter
p.Leu2963Phe Single submitter
p.Leu4037Met Single submitter
p.Leu5170Ser Single submitter
p.Lys3453Glu Single submitter
p.Lys3835Glu Single submitter
p.Lys3897Ile Single submitter
p.Pro2024Leu Single submitter
p.Pro2355Ala Single submitter
p.Pro3862Leu Single submitter
p.Pro5230Ser Single submitter
p.Pro5675Leu Single submitter
p.Pro6008Leu Single submitter
p.Ser1770Gly Single submitter
p.Ser216Asn Single submitter
p.Ser3123Asn Single submitter
p.Ser3576Leu Single submitter
p.Ser3747Leu Single submitter
p.Ser4510Asn Single submitter
p.Ser5101Pro Single submitter
p.Ser5767Leu Single submitter
p.Ser5866Leu Single submitter
p.Ser6326Asn Single submitter
p.Thr1035Met Single submitter
p.Thr223Ala Single submitter
p.Thr3840Met Single submitter
p.Thr6399Met Single submitter
p.Thr6634Met Single submitter
p.Thr742Met Single submitter
p.Tyr169His Single submitter
p.Tyr2058His Single submitter
p.Tyr3184Cys Single submitter
p.Val1551Ala Single submitter
p.Val3277Ile Single submitter
p.Val3560Ile Single submitter
p.Val5349Ile Single submitter
p.Val5609Ile Single submitter
p.Val6640Leu Single submitter
p.Val6745Phe Single submitter
p.Val6796Met Single submitter
p.Gln4302Lys No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
p.Ser2727fs No assertion criteria EBV-positive nodal T- and NK-cell lymphoma

Uncertain significance 566

Showing the top 300 by review status; the full set is in the sitemap.

p.Ala1052Pro Single submitter
p.Ala1196Thr Single submitter
p.Ala1330Gly Single submitter
p.Ala1536Pro Single submitter
p.Ala1562Thr Single submitter
p.Ala2212Pro Single submitter
p.Ala2230Val Single submitter
p.Ala2294Val Single submitter
p.Ala2487Ser Single submitter
p.Ala2587Thr Single submitter
p.Ala2668Ser Single submitter
p.Ala2680Ser Single submitter
p.Ala2683Val Single submitter
p.Ala2749Glu Single submitter
p.Ala3132Val Single submitter
p.Ala3230Glu Single submitter
p.Ala3526Ser Single submitter
p.Ala3937Asp Single submitter
p.Ala3974Ser Single submitter
p.Ala4148Thr Single submitter
p.Ala4478Gly Single submitter
p.Ala4655Thr Single submitter
p.Ala4944Val Single submitter
p.Ala5253Ser Single submitter
p.Ala5524Val Single submitter
p.Ala5545Val Single submitter
p.Ala5684Ser Single submitter
p.Ala5729Ser Single submitter
p.Ala5821Asp Single submitter
p.Ala5903Ser Single submitter
p.Ala591Val Single submitter
p.Ala7022Thr Single submitter
p.Ala951Asp Single submitter
p.Arg1070Lys Single submitter
p.Arg1632Lys Single submitter
p.Arg1803Cys Single submitter
p.Arg1837Pro Single submitter
p.Arg1918His Single submitter
p.Arg2006Cys Single submitter
p.Arg2048Thr Single submitter
p.Arg2093Leu Single submitter
p.Arg2488Lys Single submitter
p.Arg2541Cys Single submitter
p.Arg268Gly Single submitter
p.Arg2953Gln Single submitter
p.Arg2986Thr Single submitter
p.Arg3831Gln Single submitter
p.Arg4208Lys Single submitter
p.Arg4467Ser Single submitter
p.Arg4819His Single submitter
p.Arg4941Gly Single submitter
p.Arg5096Ser Single submitter
p.Arg516Lys Single submitter
p.Arg5392His Single submitter
p.Arg5490Lys Single submitter
p.Arg559Ser Single submitter
p.Arg5619His Single submitter
p.Arg5644Gly Single submitter
p.Arg5657Pro Single submitter
p.Arg5735Lys Single submitter
p.Arg5847Lys Single submitter
p.Arg6075His Single submitter
p.Arg6114His Single submitter
p.Arg6187Lys Single submitter
p.Arg6245Trp Single submitter
p.Arg6262His Single submitter
p.Arg6570Gly Single submitter
p.Arg6624His Single submitter
p.Arg6624Ser Single submitter
p.Arg815Cys Single submitter
p.Asn1003Ser Single submitter
p.Asn1591Asp Single submitter
p.Asn1942Ser Single submitter
p.Asn2333Ser Single submitter
p.Asn2530Ser Single submitter
p.Asn255Lys Single submitter
p.Asn2650Asp Single submitter
p.Asn303Ser Single submitter
p.Asn3187Ile Single submitter
p.Asn3604Asp Single submitter
p.Asn3650Lys Single submitter
p.Asn4274Thr Single submitter
p.Asn5074Thr Single submitter
p.Asn5158Ser Single submitter
p.Asn5962Asp Single submitter
p.Asn5962Thr Single submitter
p.Asn618Ser Single submitter
p.Asn634Asp Single submitter
p.Asn6740His Single submitter
p.Asn7012Thr Single submitter
p.Asn710Ser Single submitter
p.Asn731Ile Single submitter
p.Asn750Asp Single submitter
p.Asp1000Val Single submitter
p.Asp1570Asn Single submitter
p.Asp1923Asn Single submitter
p.Asp1987Asn Single submitter
p.Asp2098Gly Single submitter
p.Asp2524Glu Single submitter
p.Asp2750Tyr Single submitter
p.Asp2950Asn Single submitter
p.Asp3125Gly Single submitter
p.Asp3125Tyr Single submitter
p.Asp3276Gly Single submitter
p.Asp3893Gly Single submitter
p.Asp4158Asn Single submitter
p.Asp415Ala Single submitter
p.Asp4173Val Single submitter
p.Asp4341Asn Single submitter
p.Asp4490Asn Single submitter
p.Asp4759Glu Single submitter
p.Asp5020Gly Single submitter
p.Asp5273Asn Single submitter
p.Asp5377Tyr Single submitter
p.Asp5448Glu Single submitter
p.Asp5791Val Single submitter
p.Asp6294His Single submitter
p.Asp6501Tyr Single submitter
p.Asp657Asn Single submitter
p.Asp6746His Single submitter
p.Asp6949Tyr Single submitter
p.Cys1415Arg Single submitter
p.Cys2296Arg Single submitter
p.Cys2764Ser Single submitter
p.Cys2764Tyr Single submitter
p.Cys3089Arg Single submitter
p.Cys5029Tyr Single submitter
p.Cys6784Arg Single submitter
p.Cys907Arg Single submitter
p.Cys974Phe Single submitter
p.Gln1129Glu Single submitter
p.Gln1173Pro Single submitter
p.Gln1815Lys Single submitter
p.Gln2196Lys Single submitter
p.Gln2375Arg Single submitter
p.Gln2803His Single submitter
p.Gln2833His Single submitter
p.Gln2839Pro Single submitter
p.Gln3156Arg Single submitter
p.Gln3337Glu Single submitter
p.Gln356Lys Single submitter
p.Gln3790Arg Single submitter
p.Gln3830Arg Single submitter
p.Gln4153Leu Single submitter
p.Gln4336Arg Single submitter
p.Gln446Arg Single submitter
p.Gln4495His Single submitter
p.Gln4632His Single submitter
p.Gln5006Lys Single submitter
p.Gln5362Lys Single submitter
p.Gln5372Glu Single submitter
p.Gln5625Glu Single submitter
p.Gln6292Lys Single submitter
p.Gln6305Lys Single submitter
p.Gln637His Single submitter
p.Gln752Arg Single submitter
p.Glu1160Lys Single submitter
p.Glu144Asp Single submitter
p.Glu1814Gln Single submitter
p.Glu2028Lys Single submitter
p.Glu2580Gly Single submitter
p.Glu2735Gly Single submitter
p.Glu2818Gln Single submitter
p.Glu2818Lys Single submitter
p.Glu2893Gln Single submitter
p.Glu3018Gly Single submitter
p.Glu3055Lys Single submitter
p.Glu3404Lys Single submitter
p.Glu3561Gly Single submitter
p.Glu3707Lys Single submitter
p.Glu3910Gly Single submitter
p.Glu4074Val Single submitter
p.Glu4127Val Single submitter
p.Glu4242Gln Single submitter
p.Glu4252Lys Single submitter
p.Glu4385Lys Single submitter
p.Glu4395Asp Single submitter
p.Glu4427Gly Single submitter
p.Glu4496Gly Single submitter
p.Glu4525Gln Single submitter
p.Glu4642Gly Single submitter
p.Glu4792Lys Single submitter
p.Glu4862Lys Single submitter
p.Glu4931Gly Single submitter
p.Glu4963Ala Single submitter
p.Glu5022Lys Single submitter
p.Glu5244Gly Single submitter
p.Glu5272Asp Single submitter
p.Glu5293Ala Single submitter
p.Glu5676Lys Single submitter
p.Glu5716Asp Single submitter
p.Glu5740Lys Single submitter
p.Glu5935Gly Single submitter
p.Glu595Gly Single submitter
p.Glu6164Lys Single submitter
p.Glu6776Asp Single submitter
p.Glu6901Lys Single submitter
p.Glu7039Gly Single submitter
p.Glu733Lys Single submitter
p.Glu734Gly Single submitter
p.Glu763Asp Single submitter
p.Glu816Lys Single submitter
p.Gly1204Cys Single submitter
p.Gly1405Arg Single submitter
p.Gly1519Asp Single submitter
p.Gly1653Asp Single submitter
p.Gly1667Cys Single submitter
p.Gly1752Arg Single submitter
p.Gly2410Glu Single submitter
p.Gly2544Arg Single submitter
p.Gly3389Ser Single submitter
p.Gly3430Ala Single submitter
p.Gly3748Arg Single submitter
p.Gly3985Ser Single submitter
p.Gly413Glu Single submitter
p.Gly4774Ser Single submitter
p.Gly4851Asp Single submitter
p.Gly4863Ser Single submitter
p.Gly4937Ala Single submitter
p.Gly4937Arg Single submitter
p.Gly4985Ser Single submitter
p.Gly5090Ala Single submitter
p.Gly5245Val Single submitter
p.Gly5254Ala Single submitter
p.Gly5341Glu Single submitter
p.Gly5421Asp Single submitter
p.Gly5898Arg Single submitter
p.Gly592Ser Single submitter
p.Gly6141Glu Single submitter
p.Gly6195Trp Single submitter
p.Gly6969Arg Single submitter
p.Gly7069Ala Single submitter
p.Gly7069Arg Single submitter
p.His1215Arg Single submitter
p.His1419Pro Single submitter
p.His1481Asn Single submitter
p.His182Arg Single submitter
p.His1833Tyr Single submitter
p.His2186Tyr Single submitter
p.His2519Tyr Single submitter
p.His3263Gln Single submitter
p.His3330Tyr Single submitter
p.His3585Gln Single submitter
p.His3733Tyr Single submitter
p.His3914Pro Single submitter
p.His4601Gln Single submitter
p.His4901Tyr Single submitter
p.His4994Arg Single submitter
p.His5123Arg Single submitter
p.His5123Tyr Single submitter
p.His531Arg Single submitter
p.His5977Asn Single submitter
p.His6707Tyr Single submitter
p.His6723Tyr Single submitter
p.His6966Tyr Single submitter
p.His726Pro Single submitter
p.Ile1090Thr Single submitter
p.Ile1123Thr Single submitter
p.Ile2386Asn Single submitter
p.Ile2387Met Single submitter
p.Ile2784Val Single submitter
p.Ile2982Val Single submitter
p.Ile2994Ser Single submitter
p.Ile3247Met Single submitter
p.Ile3484Val Single submitter
p.Ile3643Ser Single submitter
p.Ile3643Thr Single submitter
p.Ile3647Ser Single submitter
p.Ile3704Thr Single submitter
p.Ile3909Thr Single submitter
p.Ile4091Val Single submitter
p.Ile4141Thr Single submitter
p.Ile451Asn Single submitter
p.Ile451Thr Single submitter
p.Ile4570Val Single submitter
p.Ile4718Arg Single submitter
p.Ile4895Lys Single submitter
p.Ile4895Met Single submitter
p.Ile5097Val Single submitter
p.Ile5116Met Single submitter
p.Ile5256Val Single submitter
p.Ile5333Leu Single submitter
p.Ile5337Leu Single submitter
p.Ile5405Thr Single submitter
p.Ile5405Val Single submitter
p.Ile544Thr Single submitter
p.Ile6319Met Single submitter
p.Ile6371Thr Single submitter
p.Ile6395Leu Single submitter
p.Ile6427Met Single submitter
p.Ile6432Val Single submitter
p.Ile6775Val Single submitter
p.Ile694Thr Single submitter
p.Ile928Thr Single submitter
p.Leu1128Pro Single submitter
p.Leu167Ser Single submitter
p.Leu1702Ser Single submitter
p.Leu1912Phe Single submitter
p.Leu2127Phe Single submitter
p.Leu2164Val Single submitter