ClinVar Miner

Variants in gene PCCB with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
151 12 9 17 8 0 2 30

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 8 12 1 0 0
likely pathogenic 12 0 0 1 0
uncertain significance 1 0 0 7 2
likely benign 0 1 7 0 5
benign 0 0 2 5 1

All variants with conflicting interpretations #

Total variants: 30
Download table as spreadsheet
HGVS dbSNP
NM_000532.4(PCCB):c.-37C>T rs145734157
NM_000532.4(PCCB):c.1218_1231delGGGCATCATCCGGCinsTAGAGCACAGGA (p.Gly407Argfs) rs397507445
NM_000532.4(PCCB):c.1228C>T (p.Arg410Trp) rs121964959
NM_000532.4(PCCB):c.1283C>T (p.Thr428Ile) rs111033542
NM_000532.4(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961
NM_000532.4(PCCB):c.1316A>G (p.Tyr439Cys) rs769521436
NM_000532.4(PCCB):c.1398+1G>T rs794727092
NM_000532.4(PCCB):c.1421A>G (p.Lys474Arg) rs145628302
NM_000532.4(PCCB):c.1452A>G (p.Ala484=) rs781556055
NM_000532.4(PCCB):c.1490C>T (p.Ala497Val) rs142403318
NM_000532.4(PCCB):c.1495C>T (p.Arg499Ter) rs202247820
NM_000532.4(PCCB):c.1539_1540insCCC (p.Ala513_Arg514insPro) rs202247821
NM_000532.4(PCCB):c.1540C>T (p.Arg514Ter) rs749908889
NM_000532.4(PCCB):c.1606A>G (p.Asn536Asp) rs202247823
NM_000532.4(PCCB):c.183+5G>A rs879253813
NM_000532.4(PCCB):c.184-12G>T rs181283691
NM_000532.4(PCCB):c.184-1G>A rs886044246
NM_000532.4(PCCB):c.372+2T>C rs879253814
NM_000532.4(PCCB):c.429+7G>A rs201986472
NM_000532.4(PCCB):c.45C>T (p.Ser15=) rs754664563
NM_000532.4(PCCB):c.493C>T (p.Arg165Trp) rs879253815
NM_000532.4(PCCB):c.49C>A (p.Leu17Met) rs200185747
NM_000532.4(PCCB):c.502G>A (p.Glu168Lys) rs121964960
NM_000532.4(PCCB):c.546G>A (p.Arg182=) rs61598773
NM_000532.4(PCCB):c.683C>T (p.Pro228Leu) rs374722096
NM_000532.4(PCCB):c.763+10C>G rs180982841
NM_000532.4(PCCB):c.815G>A (p.Arg272Gln) rs150555106
NM_000532.4(PCCB):c.872G>A (p.Cys291Tyr) rs77820367
NM_000532.4(PCCB):c.882C>T (p.Pro294=) rs142730126
NM_000532.4(PCCB):c.942C>A (p.Tyr314Ter) rs572246667

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