ClinVar Miner

Variants in gene NF2 with conflicting interpretations

See also:
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
1725 239 0 27 31 0 4 55

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 4 3 0 0
likely pathogenic 4 0 2 0 0
uncertain significance 3 2 0 28 8
likely benign 0 0 28 0 23
benign 0 0 8 23 0

All variants with conflicting interpretations #

Total variants: 55
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000268.4(NF2):c.1123-6C>T rs147898623 0.00173
NM_000268.4(NF2):c.*4G>A rs141099051 0.00165
NM_000268.4(NF2):c.12C>T (p.Ala4=) rs144477078 0.00115
NM_000268.4(NF2):c.1386C>T (p.Arg462=) rs138354622 0.00086
NM_000268.4(NF2):c.1451T>C (p.Met484Thr) rs141538143 0.00082
NM_000268.4(NF2):c.1416C>T (p.Leu472=) rs148776784 0.00081
NM_000268.4(NF2):c.1737+2098A>G rs75296199 0.00053
NM_000268.4(NF2):c.1387G>A (p.Glu463Lys) rs74315503 0.00044
NM_000268.4(NF2):c.1113C>T (p.Asn371=) rs142459414 0.00033
NM_000268.4(NF2):c.886-15C>T rs200837904 0.00030
NM_000268.4(NF2):c.1340+8G>T rs370604189 0.00029
NM_000268.4(NF2):c.-18G>A rs201591536 0.00026
NM_000268.4(NF2):c.246G>A (p.Leu82=) rs371270318 0.00021
NM_000268.4(NF2):c.1749G>A (p.Gln583=) rs201911915 0.00016
NM_000268.4(NF2):c.613A>G (p.Met205Val) rs141629512 0.00016
NM_000268.4(NF2):c.107A>G (p.Asn36Ser) rs372279458 0.00014
NM_000268.4(NF2):c.240+15C>T rs200701337 0.00014
NM_000268.4(NF2):c.1439C>T (p.Thr480Met) rs145666157 0.00013
NM_000268.4(NF2):c.1505G>A (p.Gly502Asp) rs552115565 0.00012
NM_000268.4(NF2):c.1385G>A (p.Arg462His) rs373650983 0.00011
NM_000268.4(NF2):c.465C>T (p.Pro155=) rs374911526 0.00011
NM_000268.4(NF2):c.999+15G>A rs367716680 0.00011
NM_000268.4(NF2):c.1445C>G (p.Pro482Arg) rs766339217 0.00010
NM_000268.4(NF2):c.1540A>G (p.Met514Val) rs201527155 0.00009
NM_000268.4(NF2):c.879T>C (p.Asn293=) rs151198477 0.00009
NM_000268.4(NF2):c.1392G>A (p.Ala464=) rs375819833 0.00006
NM_000268.4(NF2):c.1619A>G (p.Asn540Ser) rs774824164 0.00004
NM_000268.4(NF2):c.255T>C (p.Asp85=) rs375802248 0.00004
NM_000268.4(NF2):c.325C>T (p.Leu109=) rs201603384 0.00004
NM_000268.4(NF2):c.576C>T (p.Tyr192=) rs149803133 0.00004
NM_000268.4(NF2):c.1774T>C (p.Phe592Leu) rs764972504 0.00003
NM_000268.4(NF2):c.912T>C (p.His304=) rs200272173 0.00003
NM_000268.4(NF2):c.1500C>T (p.Leu500=) rs758182356 0.00002
NM_000268.4(NF2):c.599+3G>A rs768301915 0.00002
NM_000268.4(NF2):c.600-13G>A rs374509697 0.00002
NM_000268.4(NF2):c.861C>T (p.Ser287=) rs143160499 0.00002
NM_000268.4(NF2):c.1271G>A (p.Arg424His) rs751182657 0.00001
NM_000268.4(NF2):c.1446+5G>A rs367829184 0.00001
NM_000268.4(NF2):c.1701C>G (p.Asp567Glu) rs1049732514 0.00001
NM_000268.4(NF2):c.296A>G (p.Lys99Arg) rs181794923 0.00001
NM_000268.4(NF2):c.903C>T (p.Ile301=) rs199957176 0.00001
NM_000268.4(NF2):c.1193T>C (p.Leu398Pro) rs2147082680
NM_000268.4(NF2):c.1341-7C>T rs574718828
NM_000268.4(NF2):c.150G>A (p.Val50=) rs1601578932
NM_000268.4(NF2):c.1521C>T (p.Phe507=) rs994823423
NM_000268.4(NF2):c.1550T>C (p.Leu517Pro) rs1556002568
NM_000268.4(NF2):c.1714A>C (p.Ser572Arg) rs1379683835
NM_000268.4(NF2):c.185T>C (p.Phe62Ser) rs121434261
NM_000268.4(NF2):c.1A>G (p.Met1Val) rs1319282473
NM_000268.4(NF2):c.285CTT[1] (p.Phe96del) rs121434260
NM_000268.4(NF2):c.447+6C>T rs777369699
NM_000268.4(NF2):c.599+1G>A rs1555993352
NM_000268.4(NF2):c.641T>C (p.Leu214Pro) rs1601618585
NM_000268.4(NF2):c.789C>T (p.Asn263=) rs1555996218
NM_000268.4(NF2):c.886-3C>T rs1340263866

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