ClinVar Miner

Variants in gene PCNT with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 47
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HGVS dbSNP
NM_006031.6(PCNT):c.1107T>C (p.His369=) rs113731555
NM_006031.6(PCNT):c.1185T>C (p.Phe395=) rs764314231
NM_006031.6(PCNT):c.1246A>G (p.Ile416Val) rs368199588
NM_006031.6(PCNT):c.1784C>T (p.Ala595Val) rs143028464
NM_006031.6(PCNT):c.1943C>G (p.Pro648Arg) rs752992538
NM_006031.6(PCNT):c.2033A>G (p.Lys678Arg) rs149623054
NM_006031.6(PCNT):c.2575G>A (p.Asp859Asn) rs115369710
NM_006031.6(PCNT):c.2714A>G (p.Gln905Arg) rs112231246
NM_006031.6(PCNT):c.2833C>T (p.Arg945Cys) rs147358856
NM_006031.6(PCNT):c.2865C>T (p.Ala955=) rs540548340
NM_006031.6(PCNT):c.3748C>T (p.Arg1250Trp) rs117987006
NM_006031.6(PCNT):c.4139C>T (p.Ala1380Val) rs201139850
NM_006031.6(PCNT):c.4140G>A (p.Ala1380=) rs372175239
NM_006031.6(PCNT):c.4285C>T (p.Arg1429Cys) rs62224222
NM_006031.6(PCNT):c.4354G>A (p.Gly1452Arg) rs143796569
NM_006031.6(PCNT):c.4844C>T (p.Thr1615Met) rs139581644
NM_006031.6(PCNT):c.4910C>T (p.Pro1637Leu) rs34849154
NM_006031.6(PCNT):c.5074G>A (p.Val1692Ile) rs113342730
NM_006031.6(PCNT):c.5199G>A (p.Lys1733=) rs61735808
NM_006031.6(PCNT):c.5477G>C (p.Gly1826Ala) rs199847432
NM_006031.6(PCNT):c.5826G>A (p.Arg1942=) rs536281306
NM_006031.6(PCNT):c.5940C>T (p.Gly1980=) rs150436577
NM_006031.6(PCNT):c.5954C>T (p.Ser1985Phe) rs140398533
NM_006031.6(PCNT):c.6032C>T (p.Ala2011Val) rs145119952
NM_006031.6(PCNT):c.6080A>G (p.Gln2027Arg) rs147189224
NM_006031.6(PCNT):c.6634C>T (p.Arg2212Trp) rs144471022
NM_006031.6(PCNT):c.6635G>A (p.Arg2212Gln) rs201503338
NM_006031.6(PCNT):c.6761G>A (p.Cys2254Tyr) rs141635334
NM_006031.6(PCNT):c.6876C>T (p.Ala2292=) rs761995771
NM_006031.6(PCNT):c.688C>T (p.Arg230Cys) rs143560718
NM_006031.6(PCNT):c.6933C>T (p.Val2311=) rs148444313
NM_006031.6(PCNT):c.6986C>G (p.Pro2329Arg) rs35848602
NM_006031.6(PCNT):c.7300C>A (p.Leu2434Ile) rs112633352
NM_006031.6(PCNT):c.7332C>T (p.Thr2444=) rs150882711
NM_006031.6(PCNT):c.7459C>G (p.Leu2487Val) rs201185279
NM_006031.6(PCNT):c.7803G>A (p.Ala2601=) rs144869229
NM_006031.6(PCNT):c.7836C>T (p.Asp2612=) rs757858684
NM_006031.6(PCNT):c.7914-4G>A rs76287849
NM_006031.6(PCNT):c.8172C>T (p.Ile2724=) rs146717642
NM_006031.6(PCNT):c.8646G>C (p.Leu2882Phe) rs141771795
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr) rs33956783
NM_006031.6(PCNT):c.8889G>A (p.Ser2963=) rs151325202
NM_006031.6(PCNT):c.8924T>C (p.Leu2975Pro) rs35881595
NM_006031.6(PCNT):c.9291T>C (p.Ala3097=) rs150554265
NM_006031.6(PCNT):c.9707G>A (p.Arg3236Gln) rs113591604
NM_006031.6(PCNT):c.9720G>A (p.Pro3240=) rs141991283
NM_006031.6(PCNT):c.9949T>C (p.Leu3317=) rs111389121

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