ClinVar Miner

Variants in gene PAFAH1B1 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
222 14 7 8 2 0 0 16

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 6 2 0 0 0
likely pathogenic 2 0 0 0 0
uncertain significance 0 0 1 2 0
likely benign 0 0 2 0 6
benign 0 0 0 6 0

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
GRCh38/hg38 17p13.3(chr17:2599570-2624929)x3
NM_000430.4(PAFAH1B1):c.1002+1G>A rs113994203
NM_000430.4(PAFAH1B1):c.1050del (p.Lys351fs) rs113994200
NM_000430.4(PAFAH1B1):c.1050dup (p.Lys351fs) rs113994200
NM_000430.4(PAFAH1B1):c.118-14T>C rs147692085
NM_000430.4(PAFAH1B1):c.162del (p.Lys54fs) rs113994198
NM_000430.4(PAFAH1B1):c.162dup (p.Trp55fs) rs113994198
NM_000430.4(PAFAH1B1):c.387T>C (p.Asp129=) rs140936904
NM_000430.4(PAFAH1B1):c.474C>T (p.Phe158=) rs116237011
NM_000430.4(PAFAH1B1):c.484G>A (p.Gly162Ser) rs121434487
NM_000430.4(PAFAH1B1):c.568+27C>T rs3213696
NM_000430.4(PAFAH1B1):c.569-10T>C rs113994202
NM_000430.4(PAFAH1B1):c.672-10A>C rs77153143
NM_000430.4(PAFAH1B1):c.693A>T (p.Thr231=) rs2228614
NM_000430.4(PAFAH1B1):c.780A>G (p.Val260=) rs150380620
NM_000430.4(PAFAH1B1):c.958A>G (p.Ile320Val) rs144659773

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