ClinVar Miner

Variants in gene ELP1 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
212 29 0 24 27 0 4 51

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 1 3 0 0
likely pathogenic 1 0 2 0 0
uncertain significance 3 2 0 17 13
likely benign 0 0 17 0 23
benign 0 0 13 23 0

All variants with conflicting interpretations #

Total variants: 51
Download table as spreadsheet
HGVS dbSNP
NM_003640.3(ELP1):c.1213C>T (p.Arg405Trp) rs139703788
NM_003640.3(ELP1):c.1758T>G (p.Pro586=) rs35054425
NM_003640.3(ELP1):c.2204+6T>C rs111033171
NM_003640.3(ELP1):c.2543C>A (p.Thr848Asn) rs10979599
NM_003640.4(ELP1):c.-71G>C rs2275639
NM_003640.4(ELP1):c.1143G>A (p.Val381=) rs35936107
NM_003640.4(ELP1):c.1230G>A (p.Pro410=) rs41278359
NM_003640.4(ELP1):c.1251A>G (p.Gln417=) rs763812233
NM_003640.4(ELP1):c.1461-2A>G rs866046915
NM_003640.4(ELP1):c.1574G>A (p.Arg525Gln) rs838827
NM_003640.4(ELP1):c.169T>C (p.Leu57=) rs886063349
NM_003640.4(ELP1):c.1704A>G (p.Ser568=) rs138192941
NM_003640.4(ELP1):c.1878C>T (p.Asp626=) rs141596257
NM_003640.4(ELP1):c.189C>T (p.Leu63=) rs2230786
NM_003640.4(ELP1):c.1911T>C (p.Val637=) rs369645371
NM_003640.4(ELP1):c.1926G>A (p.Thr642=) rs10979605
NM_003640.4(ELP1):c.1965C>T (p.Thr655=) rs2230791
NM_003640.4(ELP1):c.209G>A (p.Arg70His) rs111936933
NM_003640.4(ELP1):c.2294G>A (p.Gly765Glu) rs2230792
NM_003640.4(ELP1):c.2370A>G (p.Glu790=) rs772114554
NM_003640.4(ELP1):c.2446A>C (p.Ile816Leu) rs2230793
NM_003640.4(ELP1):c.2490A>G (p.Ile830Met) rs2230794
NM_003640.4(ELP1):c.2587+14C>T rs141670242
NM_003640.4(ELP1):c.2598C>T (p.Pro866=) rs773218149
NM_003640.4(ELP1):c.2631C>T (p.Ala877=) rs138023874
NM_003640.4(ELP1):c.2825G>A (p.Arg942Gln) rs149845612
NM_003640.4(ELP1):c.286A>G (p.Ser96Gly) rs35942802
NM_003640.4(ELP1):c.3037G>A (p.Gly1013Ser) rs2230795
NM_003640.4(ELP1):c.304-5C>T rs370384351
NM_003640.4(ELP1):c.3069G>C (p.Leu1023=) rs1063110
NM_003640.4(ELP1):c.3214T>A (p.Cys1072Ser) rs3204145
NM_003640.4(ELP1):c.3222+14C>T rs374787755
NM_003640.4(ELP1):c.3280A>G (p.Arg1094Gly) rs146440397
NM_003640.4(ELP1):c.3285+9C>T rs2275495
NM_003640.4(ELP1):c.3473C>T (p.Pro1158Leu) rs1538660
NM_003640.4(ELP1):c.3474C>T (p.Pro1158=) rs146956297
NM_003640.4(ELP1):c.3492C>T (p.Asp1164=) rs79596285
NM_003640.4(ELP1):c.3573-7C>G rs370571926
NM_003640.4(ELP1):c.3876T>G (p.Thr1292=) rs61749202
NM_003640.4(ELP1):c.3931+14C>G rs555520875
NM_003640.4(ELP1):c.441G>A (p.Gln147=) rs2230788
NM_003640.4(ELP1):c.545T>A (p.Met182Lys) rs10521092
NM_003640.4(ELP1):c.741-15dupT rs398102543
NM_003640.4(ELP1):c.751A>G (p.Ser251Gly) rs17853166
NM_003640.4(ELP1):c.819C>T (p.Leu273=) rs12340246
NM_003640.4(ELP1):c.934G>A (p.Glu312Lys) rs1140064
NM_003640.4(ELP1):c.959-15C>T rs112114410
NM_003640.5(ELP1):c.1886G>A (p.Arg629His) rs148378319
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro) rs137853022
NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu) rs28939712
NM_003640.5(ELP1):c.923T>C (p.Leu308Pro) rs78135392

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