ClinVar Miner

Variants in gene SZT2 with conflicting interpretations

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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
312 56 0 18 4 0 4 26

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 0 3 0 0
likely pathogenic 0 0 1 0 0
uncertain significance 3 1 0 2 2
likely benign 0 0 2 0 18
benign 0 0 2 18 0

All variants with conflicting interpretations #

Total variants: 26
Download table as spreadsheet
HGVS dbSNP
NM_001365999.1(SZT2):c.1272A>G (p.Gln424=) rs780157180
NM_001365999.1(SZT2):c.2550+5G>A rs41270349
NM_001365999.1(SZT2):c.2631C>T (p.Thr877=) rs140831372
NM_001365999.1(SZT2):c.2812G>A (p.Ala938Thr) rs143880787
NM_001365999.1(SZT2):c.3267C>T (p.Val1089=) rs147008168
NM_001365999.1(SZT2):c.4531G>A (p.Val1511Ile) rs76675748
NM_001365999.1(SZT2):c.4701G>A (p.Leu1567=)
NM_001365999.1(SZT2):c.4898C>T (p.Ser1633Leu)
NM_001365999.1(SZT2):c.4983T>C (p.Asp1661=) rs139810154
NM_001365999.1(SZT2):c.5075C>T (p.Thr1692Ile) rs149831634
NM_001365999.1(SZT2):c.5165G>A (p.Arg1722His) rs562214305
NM_001365999.1(SZT2):c.5515C>T (p.Arg1839Cys) rs147748994
NM_001365999.1(SZT2):c.5517C>T (p.Arg1839=) rs147753139
NM_001365999.1(SZT2):c.6380A>T (p.Tyr2127Phe) rs149812437
NM_001365999.1(SZT2):c.6543A>G (p.Leu2181=) rs112461557
NM_001365999.1(SZT2):c.6573C>T (p.Asp2191=)
NM_001365999.1(SZT2):c.6724C>T (p.Arg2242Trp) rs765848129
NM_001365999.1(SZT2):c.7256G>A (p.Arg2419Gln) rs72637949
NM_001365999.1(SZT2):c.7395T>C (p.Ile2465=) rs78858677
NM_001365999.1(SZT2):c.7512-3C>T rs117106532
NM_001365999.1(SZT2):c.7562T>C (p.Val2521Ala) rs150113647
NM_001365999.1(SZT2):c.7573G>A (p.Val2525Ile) rs139486476
NM_001365999.1(SZT2):c.759G>A (p.Ser253=) rs1889586
NM_001365999.1(SZT2):c.8020T>C (p.Leu2674=) rs187106999
NM_001365999.1(SZT2):c.8177C>G (p.Thr2726Ser) rs145882968
NM_001365999.1(SZT2):c.9723G>A (p.Ala3241=) rs146635122

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