ClinVar Miner

Variants in gene ITPR1 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 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
378 33 0 35 9 0 1 41

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 2 1 0 0
likely pathogenic 2 0 0 0 0
uncertain significance 1 0 0 6 7
likely benign 0 0 6 0 33
benign 0 0 7 33 0

All variants with conflicting interpretations #

Total variants: 41
Download table as spreadsheet
NM_001168272.1(ITPR1):c.4428C>T (p.Ile1476=) rs192863290
NM_001378452.1(ITPR1):c.3457A>G (p.Met1153Val) rs199698357
NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met) rs797044955
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_002222.6(ITPR1):c.1404C>T (p.Phe468=) rs192247062
NM_002222.6(ITPR1):c.1435G>A (p.Val479Ile) rs41289628
NM_002222.6(ITPR1):c.1962-3T>C rs200335594
NM_002222.6(ITPR1):c.1962G>A (p.Lys654=) rs2306875
NM_002222.6(ITPR1):c.2181G>A (p.Ala727=) rs41289636
NM_002222.6(ITPR1):c.2682G>A (p.Lys894=) rs187516662
NM_002222.6(ITPR1):c.3135C>T (p.Thr1045=) rs186541002
NM_002222.6(ITPR1):c.3588G>A (p.Ala1196=) rs199960483
NM_002222.6(ITPR1):c.3597G>A (p.Val1199=) rs201263269
NM_002222.6(ITPR1):c.3801C>T (p.Phe1267=) rs567943387
NM_002222.6(ITPR1):c.3849C>T (p.His1283=) rs61757108
NM_002222.6(ITPR1):c.4191C>G (p.His1397Gln) rs61757110
NM_002222.6(ITPR1):c.4765T>C (p.Leu1589=) rs367643585
NM_002222.6(ITPR1):c.4771-8C>T rs41304179
NM_002222.6(ITPR1):c.4782C>T (p.Ser1594=) rs373127487
NM_002222.6(ITPR1):c.5076C>T (p.Asn1692=) rs61757111
NM_002222.6(ITPR1):c.5088G>A (p.Ser1696=) rs368425885
NM_002222.6(ITPR1):c.5277C>T (p.Asn1759=) rs113368815
NM_002222.6(ITPR1):c.5432T>G (p.Val1811Gly) rs143093165
NM_002222.6(ITPR1):c.5502T>C (p.Asp1834=) rs371661663
NM_002222.6(ITPR1):c.5958C>T (p.Thr1986=) rs144178989
NM_002222.6(ITPR1):c.6159C>T (p.Asn2053=) rs182891619
NM_002222.6(ITPR1):c.6258C>T (p.Asn2086=) rs202123078
NM_002222.6(ITPR1):c.6507A>G (p.Lys2169=) rs34491089
NM_002222.6(ITPR1):c.6528A>G (p.Thr2176=) rs13079522
NM_002222.6(ITPR1):c.66G>A (p.Ser22=) rs112944532
NM_002222.6(ITPR1):c.6723G>A (p.Pro2241=) rs200426774
NM_002222.6(ITPR1):c.6865C>T (p.Leu2289=) rs2291862
NM_002222.6(ITPR1):c.6909C>T (p.Gly2303=) rs41290672
NM_002222.6(ITPR1):c.6910G>A (p.Ala2304Thr) rs201144431
NM_002222.6(ITPR1):c.7317C>T (p.Ser2439=) rs375227391
NM_002222.6(ITPR1):c.7446T>C (p.Thr2482=) rs711631
NM_002222.6(ITPR1):c.7471G>A (p.Gly2491Arg) rs752281590
NM_002222.6(ITPR1):c.7500G>A (p.Lys2500=) rs901854
NM_002222.6(ITPR1):c.7770C>T (p.Ile2590=) rs371988852
NM_002222.6(ITPR1):c.7797C>T (p.Thr2599=) rs368405302
NM_002222.6(ITPR1):c.789C>T (p.Phe263=) rs369681244

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