ClinVar Miner

Variants in gene SMPD1 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
211 40 0 28 15 0 3 43

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 0 14 1 0 0
likely pathogenic 14 0 2 0 0
uncertain significance 1 2 0 11 7
likely benign 0 0 11 0 14
benign 0 0 7 14 0

All variants with conflicting interpretations #

Total variants: 43
Download table as spreadsheet
HGVS dbSNP
NM_000543.4(SMPD1):c.1071C>T (p.Ala357=) rs72896268
NM_000543.4(SMPD1):c.107_112delTGCTGG (p.Val36_Leu37del) rs775860642
NM_000543.4(SMPD1):c.1091+10G>A rs148067213
NM_000543.4(SMPD1):c.1091+9C>T rs143612450
NM_000543.4(SMPD1):c.1092-1G>C rs398123474
NM_000543.4(SMPD1):c.114delG (p.Leu39Trpfs) rs886043098
NM_000543.4(SMPD1):c.1267C>T (p.His423Tyr) rs120074126
NM_000543.4(SMPD1):c.132_143delGCTGGCGCTGGC (p.Ala46_Leu49del) rs3838786
NM_000543.4(SMPD1):c.1340+7C>T rs116480929
NM_000543.4(SMPD1):c.1341-1G>A rs1057516854
NM_000543.4(SMPD1):c.138_143delGCTGGC (p.Ala48_Leu49del) rs3838786
NM_000543.4(SMPD1):c.1426C>T rs182812968
NM_000543.4(SMPD1):c.1460C>T (p.Ala487Val) rs141641266
NM_000543.4(SMPD1):c.1522G>A (p.Gly508Arg) rs1050239
NM_000543.4(SMPD1):c.1556A>G (p.Tyr519Cys) rs371837210
NM_000543.4(SMPD1):c.1561C>T (p.Leu521=) rs147258619
NM_000543.4(SMPD1):c.1589G>C (p.Gly530Ala) rs35122256
NM_000543.4(SMPD1):c.1598C>T (p.Pro533Leu) rs199915216
NM_000543.4(SMPD1):c.1599G>A (p.Pro533=) rs552841217
NM_000543.4(SMPD1):c.1749G>A (p.Ser583=) rs35098198
NM_000543.4(SMPD1):c.1763C>T (p.Thr588Met) rs35785620
NM_000543.4(SMPD1):c.1785_1786delTT (p.Ala597Profs) rs1057516403
NM_000543.4(SMPD1):c.297C>G (p.Thr99=) rs146630228
NM_000543.4(SMPD1):c.354delC (p.Ile119Serfs) rs727504165
NM_000543.4(SMPD1):c.441G>A (p.Val147=) rs148944108
NM_000543.4(SMPD1):c.475T>C (p.Cys159Arg) rs727504166
NM_000543.4(SMPD1):c.538_539delTT (p.Leu180Alafs) rs786204694
NM_000543.4(SMPD1):c.557C>T (p.Pro186Leu) rs1057517195
NM_000543.4(SMPD1):c.559C>T (p.Pro187Ser) rs74053349
NM_000543.4(SMPD1):c.56delA (p.Gln19Argfs) rs1554933746
NM_000543.4(SMPD1):c.636T>C (p.Asp212=) rs7951904
NM_000543.4(SMPD1):c.714A>G (p.Ala238=) rs2682091
NM_000543.4(SMPD1):c.719G>A (p.Arg240Gln) rs2634197
NM_000543.4(SMPD1):c.739G>A (p.Gly247Ser) rs587779408
NM_000543.4(SMPD1):c.748A>C (p.Ser250Arg) rs750779804
NM_000543.4(SMPD1):c.757G>C (p.Asp253His) rs398123479
NM_000543.4(SMPD1):c.785_807del23 (p.Leu262Argfs) rs794727252
NM_000543.4(SMPD1):c.807C>T (p.Ala269=) rs35933246
NM_000543.4(SMPD1):c.813T>C (p.Pro271=) rs61876771
NM_000543.4(SMPD1):c.872G>A (p.Arg291His) rs1803161
NM_000543.4(SMPD1):c.887G>A (p.Arg296Gln) rs35824453
NM_000543.4(SMPD1):c.901G>A (p.Val301Ile) rs2723669
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val) rs142787001

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