ClinVar Miner

List of variants in gene PCNT reported as uncertain significance for Microcephalic osteodysplastic primordial dwarfism type 2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 66
Download table as spreadsheet
HGVS dbSNP
NM_006031.5(PCNT):c.1040A>G (p.Lys347Arg) rs80166001
NM_006031.5(PCNT):c.244G>A (p.Ala82Thr) rs143870030
NM_006031.5(PCNT):c.2470C>T (p.Leu824=) rs61735803
NM_006031.5(PCNT):c.2710C>T (p.Leu904Phe) rs61735804
NM_006031.5(PCNT):c.2714A>G (p.Gln905Arg) rs112231246
NM_006031.5(PCNT):c.2742A>G (p.Ser914=) rs587784301
NM_006031.5(PCNT):c.321G>T (p.Lys107Asn) rs138834119
NM_006031.5(PCNT):c.3220C>T (p.Arg1074Trp) rs200174202
NM_006031.5(PCNT):c.3233C>A (p.Ala1078Glu) rs587784303
NM_006031.5(PCNT):c.3282G>T (p.Gln1094His) rs78484478
NM_006031.5(PCNT):c.336T>C (p.His112=) rs59157477
NM_006031.5(PCNT):c.339T>A (p.Pro113=) rs59662841
NM_006031.5(PCNT):c.3421_3423delCTC (p.Leu1141del)
NM_006031.5(PCNT):c.3443T>C (p.Val1148Ala) rs762148129
NM_006031.5(PCNT):c.3581C>T (p.Ala1194Val) rs138254119
NM_006031.5(PCNT):c.3992A>G (p.His1331Arg) rs34012939
NM_006031.5(PCNT):c.4078C>T (p.Arg1360Cys) rs202221024
NM_006031.5(PCNT):c.4109G>A (p.Arg1370Gln) rs145055342
NM_006031.5(PCNT):c.4139C>T (p.Ala1380Val) rs201139850
NM_006031.5(PCNT):c.4175G>A (p.Arg1392Gln) rs587784304
NM_006031.5(PCNT):c.427C>T (p.Arg143Cys) rs201176638
NM_006031.5(PCNT):c.4431G>A (p.Gln1477=) rs61735807
NM_006031.5(PCNT):c.445A>T (p.Ser149Cys) rs111737555
NM_006031.5(PCNT):c.4675A>T (p.Met1559Leu) rs180775012
NM_006031.5(PCNT):c.4769A>G (p.Asn1590Ser) rs587784307
NM_006031.5(PCNT):c.4844C>T (p.Thr1615Met) rs139581644
NM_006031.5(PCNT):c.5347C>T (p.Pro1783Ser) rs61735809
NM_006031.5(PCNT):c.5431C>T (p.Arg1811Cys) rs587784309
NM_006031.5(PCNT):c.55-5C>T rs587784310
NM_006031.5(PCNT):c.5677G>T (p.Ala1893Ser) rs587784311
NM_006031.5(PCNT):c.5774A>C (p.Gln1925Pro) rs587784313
NM_006031.5(PCNT):c.5855C>T (p.Ala1952Val) rs370664761
NM_006031.5(PCNT):c.5975C>T (p.Pro1992Leu) rs758977418
NM_006031.5(PCNT):c.6195T>G (p.Asp2065Glu) rs148389745
NM_006031.5(PCNT):c.644G>A (p.Cys215Tyr) rs138962786
NM_006031.5(PCNT):c.6572C>A (p.Ser2191Tyr) rs587784315
NM_006031.5(PCNT):c.6633C>T (p.Pro2211=) rs587784316
NM_006031.5(PCNT):c.6722G>A (p.Ser2241Asn) rs142402562
NM_006031.5(PCNT):c.6922-4A>T rs587784317
NM_006031.5(PCNT):c.7011T>C (p.Asp2337=) rs138506849
NM_006031.5(PCNT):c.7136C>T (p.Pro2379Leu) rs151230453
NM_006031.5(PCNT):c.7198C>T (p.Arg2400Cys) rs751297741
NM_006031.5(PCNT):c.7297T>C (p.Ser2433Pro) rs113536916
NM_006031.5(PCNT):c.7304A>G (p.His2435Arg) rs373432697
NM_006031.5(PCNT):c.7309G>C (p.Gly2437Arg) rs148384323
NM_006031.5(PCNT):c.7321-10C>T rs587784318
NM_006031.5(PCNT):c.7465G>A (p.Glu2489Lys) rs148485670
NM_006031.5(PCNT):c.7648G>A (p.Glu2550Lys) rs71326327
NM_006031.5(PCNT):c.7655G>A (p.Arg2552His) rs199589423
NM_006031.5(PCNT):c.8398C>T (p.Arg2800Trp) rs142608069
NM_006031.5(PCNT):c.8672C>T (p.Ala2891Val) rs144963695
NM_006031.5(PCNT):c.8873G>A (p.Arg2958His) rs574728262
NM_006031.5(PCNT):c.8947C>G (p.Leu2983Val) rs372356069
NM_006031.5(PCNT):c.8959C>T (p.Arg2987Trp) rs587784322
NM_006031.5(PCNT):c.9174G>A (p.Ala3058=) rs554275370
NM_006031.5(PCNT):c.931G>A (p.Ala311Thr) rs140196457
NM_006031.5(PCNT):c.9584G>A (p.Arg3195Lys) rs78524660
NM_006031.5(PCNT):c.9698C>G (p.Pro3233Arg) rs373681566
NM_006031.5(PCNT):c.9719C>T (p.Pro3240Leu) rs138860570
NM_006031.5(PCNT):c.9740G>A (p.Arg3247Lys) rs587784323
NM_006031.5(PCNT):c.9820T>G (p.Ser3274Ala) rs144044246
NM_006031.5(PCNT):c.9968-3C>T rs182378192
NM_006031.6(PCNT):c.362_365CAGT[1] (p.Ser123Thrfs)
NM_006031.6(PCNT):c.6410dup (p.Val2138Cysfs)
NM_006031.6(PCNT):c.8814_8815GA[2] (p.Asp2940Profs)
NM_006031.6(PCNT):c.9195_9196insGA (p.Lys3066Glufs)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.