ClinVar Miner

Variants with conflicting interpretations studied for FAT4-related condition

Minimum review status of the submission for FAT4-related condition: Collection method of the submission for FAT4-related condition:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
17 69 0 33 22 0 0 51

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.

All conditions
FAT4-related condition uncertain significance likely benign benign
uncertain significance 0 6 0
likely benign 14 0 23
benign 2 10 0

Condition to condition summary #

Total conditions: 2
Download table as spreadsheet
Condition 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
not provided 0 71 0 32 18 0 0 48
not specified 0 16 0 4 7 0 0 11

All variants with conflicting interpretations #

Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_001291303.3(FAT4):c.8544C>T (p.Ser2848=) rs139132509 0.00802
NM_001291303.3(FAT4):c.4154T>C (p.Leu1385Ser) rs139883132 0.00597
NM_001291303.3(FAT4):c.14663C>G (p.Ala4888Gly) rs35340865 0.00551
NM_001291303.3(FAT4):c.6219A>G (p.Gln2073=) rs35355603 0.00545
NM_001291303.3(FAT4):c.12986A>G (p.Asp4329Gly) rs114234553 0.00519
NM_001291303.3(FAT4):c.6733G>A (p.Val2245Ile) rs112971995 0.00426
NM_001291303.3(FAT4):c.10853C>T (p.Thr3618Met) rs111423173 0.00407
NM_001291303.3(FAT4):c.12855T>C (p.Asp4285=) rs78040862 0.00365
NM_001291303.3(FAT4):c.3658T>A (p.Ser1220Thr) rs181368820 0.00342
NM_001291303.3(FAT4):c.12070C>T (p.Arg4024Trp) rs138019311 0.00333
NM_001291303.3(FAT4):c.7358G>T (p.Ser2453Ile) rs72914988 0.00327
NM_001291303.3(FAT4):c.4303A>G (p.Ile1435Val) rs142747281 0.00288
NM_001291303.3(FAT4):c.13554G>A (p.Leu4518=) rs78235204 0.00277
NM_001291303.3(FAT4):c.14666G>A (p.Arg4889Lys) rs35845544 0.00261
NM_001291303.3(FAT4):c.7935C>T (p.Asp2645=) rs146157250 0.00244
NM_001291303.3(FAT4):c.5987A>G (p.Lys1996Arg) rs140055438 0.00242
NM_001291303.3(FAT4):c.7787T>C (p.Leu2596Ser) rs111501860 0.00216
NM_001291303.3(FAT4):c.13404G>A (p.Val4468=) rs149993049 0.00181
NM_001291303.3(FAT4):c.5275A>G (p.Ile1759Val) rs145639192 0.00145
NM_001291303.3(FAT4):c.3424G>A (p.Val1142Met) rs202188213 0.00140
NM_001291303.3(FAT4):c.8021A>T (p.Asp2674Val) rs138655269 0.00121
NM_001291303.3(FAT4):c.3402A>T (p.Glu1134Asp) rs144768563 0.00113
NM_001291303.3(FAT4):c.7052A>G (p.Asn2351Ser) rs145105421 0.00096
NM_001291303.3(FAT4):c.7231A>T (p.Thr2411Ser) rs147297895 0.00091
NM_001291303.3(FAT4):c.11693C>T (p.Ala3898Val) rs138275098 0.00069
NM_001291303.3(FAT4):c.7103C>A (p.Ala2368Glu) rs116568645 0.00066
NM_001291303.3(FAT4):c.13111A>G (p.Met4371Val) rs139260545 0.00056
NM_001291303.3(FAT4):c.13417G>A (p.Val4473Ile) rs145835705 0.00048
NM_001291303.3(FAT4):c.2917G>A (p.Val973Ile) rs199497561 0.00044
NM_001291303.3(FAT4):c.12066C>T (p.Gly4022=) rs144476127 0.00036
NM_001291303.3(FAT4):c.5883T>C (p.Ser1961=) rs117016099 0.00025
NM_001291303.3(FAT4):c.829G>A (p.Ala277Thr) rs183191959 0.00021
NM_001291303.3(FAT4):c.11380C>T (p.Arg3794Trp) rs201859188 0.00020
NM_001291303.3(FAT4):c.7452T>C (p.Gly2484=) rs200513521 0.00019
NM_001291303.3(FAT4):c.1099G>A (p.Val367Ile) rs747531733 0.00013
NM_001291303.3(FAT4):c.8313T>C (p.Asn2771=) rs148344513 0.00012
NM_001291303.3(FAT4):c.13088G>T (p.Gly4363Val) rs199797338 0.00010
NM_001291303.3(FAT4):c.7813A>G (p.Ile2605Val) rs745697037 0.00009
NM_001291303.3(FAT4):c.1802A>G (p.Glu601Gly) rs377156485 0.00007
NM_001291303.3(FAT4):c.12768C>T (p.Ser4256=) rs1006074076 0.00004
NM_001291303.3(FAT4):c.14738G>A (p.Gly4913Asp) rs765666547 0.00002
NM_001291303.3(FAT4):c.2057G>A (p.Ser686Asn) rs374104309 0.00001
NM_001291303.3(FAT4):c.2450C>T (p.Ala817Val) rs539442232 0.00001
NM_001291303.3(FAT4):c.5924T>C (p.Ile1975Thr) rs200276252 0.00001
NM_001291303.3(FAT4):c.842C>T (p.Thr281Ile) rs564305264 0.00001
NM_001291303.3(FAT4):c.2214C>A (p.Val738=)
NM_001291303.3(FAT4):c.2316A>G (p.Gln772=) rs187427286
NM_001291303.3(FAT4):c.2574G>A (p.Glu858=)
NM_001291303.3(FAT4):c.2705TGG[1] (p.Val903del) rs541157165
NM_001291303.3(FAT4):c.739C>A (p.Pro247Thr) rs191329848
NM_001291303.3(FAT4):c.7466C>T (p.Ala2489Val) rs144853732

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