ClinVar Miner

Variants in gene FGFR1 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
118 78 0 16 2 4 4 25

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 risk factor
pathogenic 0 7 3 0 0 3
likely pathogenic 7 0 1 0 0 2
uncertain significance 3 1 0 2 0 0
likely benign 0 0 2 0 9 0
benign 0 0 0 9 0 0
risk factor 3 2 0 0 0 0

All variants with conflicting interpretations #

Total variants: 25
Download table as spreadsheet
HGVS dbSNP
NM_023110.2(FGFR1):c.1042G>A (p.Gly348Arg) rs886037634
NM_023110.2(FGFR1):c.1097C>T (p.Pro366Leu) rs121909641
NM_023110.2(FGFR1):c.1368G>T (p.Met456Ile) rs200776757
NM_023110.2(FGFR1):c.1468G>C (p.Gly490Arg) rs869025670
NM_023110.2(FGFR1):c.1604_1606delTGA (p.Met535del) rs1554551657
NM_023110.2(FGFR1):c.1638C>A (p.Asn546Lys) rs779707422
NM_023110.2(FGFR1):c.1825C>T (p.Arg609Ter) rs121909639
NM_023110.2(FGFR1):c.1864C>T (p.Arg622Ter) rs121909628
NM_023110.2(FGFR1):c.1880G>C (p.Arg627Thr) rs869025671
NM_023110.2(FGFR1):c.1888C>T (p.Leu630=) rs746123129
NM_023110.2(FGFR1):c.1966A>G (p.Lys656Glu) rs869320694
NM_023110.2(FGFR1):c.2038C>T (p.Gln680Ter) rs121909636
NM_023110.2(FGFR1):c.214C>T (p.Gln72Ter) rs1554570813
NM_023110.2(FGFR1):c.2187-6C>T rs4647904
NM_023110.2(FGFR1):c.2262G>A (p.Leu754=) rs56341011
NM_023110.2(FGFR1):c.2278T>C (p.Leu760=) rs201490643
NM_023110.2(FGFR1):c.2314C>T (p.Pro772Ser) rs56234888
NM_023110.2(FGFR1):c.232C>T (p.Arg78Cys) rs1554570706
NM_023110.2(FGFR1):c.320C>T (p.Ser107Leu) rs140382957
NM_023110.2(FGFR1):c.336C>T (p.Thr112=) rs148480919
NM_023110.2(FGFR1):c.345C>T (p.Ser115=) rs2915665
NM_023110.2(FGFR1):c.443G>A (p.Arg148His) rs515726222
NM_023110.2(FGFR1):c.449-9C>G rs17182303
NM_023110.2(FGFR1):c.600C>T (p.Asp200=) rs17175898
NM_023110.2(FGFR1):c.899T>C (p.Ile300Thr) rs121909633

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