ClinVar Miner

Variants in gene combination ASPA, SPATA22 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 per condition Variants with at least 2 submissions on the same condition 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 conflict
97 13 0 16 6 0 8 29

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 15 3 0 0
likely pathogenic 15 0 6 0 0
uncertain significance 3 6 0 6 0
likely benign 0 0 6 0 1
benign 0 0 0 1 0

All variants with conflicting interpretations #

Total variants: 29
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NM_000049.3(ASPA):c.212G>A (p.Arg71His) rs104894553
NM_000049.3(ASPA):c.237-2A>T rs780936696
NM_000049.3(ASPA):c.340G>T (p.Asp114Tyr) rs1446467099
NM_000049.3(ASPA):c.427A>G (p.Ile143Val) rs199565861
NM_000049.3(ASPA):c.427A>T (p.Ile143Phe) rs199565861
NM_000049.3(ASPA):c.432G>A (p.Lys144=) rs754087904
NM_000049.3(ASPA):c.47T>C (p.Ile16Thr) rs769653717
NM_000049.3(ASPA):c.503G>A (p.Arg168His) rs770706390
NM_000049.3(ASPA):c.541C>A (p.Pro181Thr) rs786204572
NM_000049.3(ASPA):c.693C>T (p.Tyr231=) rs12948217
NM_000049.3(ASPA):c.746A>T (p.Asp249Val) rs104894552
NM_000049.3(ASPA):c.770C>G (p.Pro257Arg) rs377217076
NM_000049.3(ASPA):c.79G>A (p.Gly27Arg) rs766328537
NM_000049.3(ASPA):c.820G>A (p.Gly274Arg) rs761064915
NM_000049.3(ASPA):c.859G>A (p.Ala287Thr) rs774323189
NM_000049.3(ASPA):c.89T>C (p.Leu30Pro) rs1555538144
NM_000049.3(ASPA):c.906G>A (p.Thr302=) rs371394875
NM_000049.4(ASPA):c.162C>A (p.Asn54Lys)
NM_000049.4(ASPA):c.237-6T>C rs370219865
NM_000049.4(ASPA):c.437_449del (p.Ser146fs)
NM_000049.4(ASPA):c.502C>T (p.Arg168Cys) rs937670540
NM_000049.4(ASPA):c.634+1G>T rs753871454
NM_000049.4(ASPA):c.637A>G (p.Lys213Glu) rs528179434
NM_000049.4(ASPA):c.723T>C (p.Ala241=)
NM_000049.4(ASPA):c.78C>T (p.Thr26=) rs145616193
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) rs28940279
NM_000049.4(ASPA):c.876_879del (p.Glu293fs) rs766720790
NM_001321336.1(SPATA22):c.-73-12212dup rs756198538
NM_001321336.1(SPATA22):c.-74+14436del rs1555541304

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