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 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
205 12 0 20 10 0 5 33

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 3 2 0 0
likely pathogenic 3 0 2 1 1
uncertain significance 2 2 0 5 6
likely benign 0 1 5 0 17
benign 0 1 6 17 0

All variants with conflicting interpretations #

Total variants: 33
Download table as spreadsheet
HGVS dbSNP
NM_001168272.1(ITPR1):c.3876C>T (p.His1292=) rs61757108
NM_001168272.1(ITPR1):c.7914C>T (p.Ile2638=) rs371988852
NM_002222.5(ITPR1):c.107G>A (p.Arg36His) rs1057518026
NM_002222.5(ITPR1):c.1435G>A (p.Val479Ile) rs41289628
NM_002222.5(ITPR1):c.1881C>T (p.Asn627=) rs61757106
NM_002222.5(ITPR1):c.1962-3T>C rs200335594
NM_002222.5(ITPR1):c.1962G>A (p.Lys654=) rs2306875
NM_002222.5(ITPR1):c.2235G>T (p.Leu745=) rs375801584
NM_002222.5(ITPR1):c.255C>T (p.Asp85=) rs367814655
NM_002222.5(ITPR1):c.2613A>C (p.Leu871=) rs2306877
NM_002222.5(ITPR1):c.2687C>T (p.Ala896Val) rs201519806
NM_002222.5(ITPR1):c.3255+4G>A rs2306878
NM_002222.5(ITPR1):c.3385A>G (p.Met1129Val) rs199698357
NM_002222.5(ITPR1):c.3822C>T (p.Asn1274=) rs182840163
NM_002222.5(ITPR1):c.3873T>C (p.Asn1291=) rs193212750
NM_002222.5(ITPR1):c.4216A>G (p.Ile1406Val) rs3749383
NM_002222.5(ITPR1):c.4612G>A (p.Val1538Met) rs397514535
NM_002222.5(ITPR1):c.4782C>T (p.Ser1594=) rs373127487
NM_002222.5(ITPR1):c.5076C>T (p.Asn1692=) rs61757111
NM_002222.5(ITPR1):c.6528A>G (p.Thr2176=) rs13079522
NM_002222.5(ITPR1):c.6865C>T (p.Leu2289=) rs2291862
NM_002222.5(ITPR1):c.6909C>T (p.Gly2303=) rs41290672
NM_002222.5(ITPR1):c.6910G>A (p.Ala2304Thr) rs201144431
NM_002222.5(ITPR1):c.7200C>T (p.Phe2400=) rs200487406
NM_002222.5(ITPR1):c.731A>G (p.His244Arg) rs1085308010
NM_002222.5(ITPR1):c.7320T>C (p.Asp2440=) rs79720149
NM_002222.5(ITPR1):c.736G>A (p.Glu246Lys) rs1553666546
NM_002222.5(ITPR1):c.7446T>C (p.Thr2482=) rs711631
NM_002222.5(ITPR1):c.7471G>A (p.Gly2491Arg) rs752281590
NM_002222.5(ITPR1):c.7500G>A (p.Lys2500=) rs901854
NM_002222.5(ITPR1):c.800C>T (p.Thr267Met) rs797044955
NM_002222.5(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_002222.5(ITPR1):c.952-6C>T rs139421901

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