ClinVar Miner

Variants in gene ALPL 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
163 23 0 23 2 0 4 28

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 3 0 0
likely pathogenic 14 0 1 0 0
uncertain significance 3 1 0 2 1
likely benign 0 0 2 0 9
benign 0 0 1 9 0

All variants with conflicting interpretations #

Total variants: 28
Download table as spreadsheet
HGVS dbSNP
NM_000478.4(ALPL):c.1001G>A (p.Gly334Asp) rs121918009
NM_000478.4(ALPL):c.1363G>A (p.Gly455Ser) rs149889416
NM_000478.4(ALPL):c.1565T>C (p.Val522Ala) rs34605986
NM_000478.4(ALPL):c.346G>A (p.Ala116Thr) rs121918013
NM_000478.4(ALPL):c.400_401delACinsCA (p.Thr134His) rs786204530
NM_000478.4(ALPL):c.529G>A (p.Ala177Thr) rs199669988
NM_000478.4(ALPL):c.571G>A (p.Glu191Lys) rs121918007
NM_000478.4(ALPL):c.744C>T (p.Asp248=) rs188689330
NM_000478.4(ALPL):c.979T>C (p.Phe327Leu) rs121918010
NM_000478.5(ALPL):c.1114_1115del (p.Leu372Aspfs) rs1553414600
NM_000478.5(ALPL):c.1119C>T (p.Thr373=) rs112335417
NM_000478.5(ALPL):c.1189+19G>T rs61778393
NM_000478.5(ALPL):c.1250A>G (p.Asn417Ser) rs121918014
NM_000478.5(ALPL):c.1381G>A (p.Val461Ile) rs34810399
NM_000478.5(ALPL):c.1471G>A (p.Gly491Arg) rs1413274209
NM_000478.5(ALPL):c.1542G>T (p.Ala514=) rs3200256
NM_000478.5(ALPL):c.211C>T (p.Arg71Cys) rs121918001
NM_000478.5(ALPL):c.330C>T (p.Ser110=) rs1780316
NM_000478.5(ALPL):c.455G>A (p.Arg152His) rs149344982
NM_000478.5(ALPL):c.46_49delAACT (p.Asn16Profs) rs1057516230
NM_000478.5(ALPL):c.472+12delG rs35423948
NM_000478.5(ALPL):c.485G>T (p.Gly162Val) rs121918012
NM_000478.5(ALPL):c.526G>A (p.Ala176Thr) rs121918019
NM_000478.5(ALPL):c.535G>A (p.Ala179Thr) rs121918000
NM_000478.5(ALPL):c.550C>T (p.Arg184Trp) rs763159520
NM_000478.5(ALPL):c.746G>T (p.Gly249Val) rs121918018
NM_000478.5(ALPL):c.818C>T (p.Thr273Met) rs148405563
NM_000478.6(ALPL):c.407G>A (p.Arg136His) rs121918011

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