ClinVar Miner

Variants with conflicting interpretations studied for CREBBP-related condition

Minimum review status of the submission for CREBBP-related condition: Collection method of the submission for CREBBP-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
218 56 0 44 45 0 4 83

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
CREBBP-related condition likely pathogenic uncertain significance likely benign benign
pathogenic 1 1 0 0
uncertain significance 1 0 6 1
likely benign 1 37 0 38
benign 1 1 5 0

Condition to condition summary #

Total conditions: 3
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 44 0 38 43 0 1 76
not specified 0 34 0 11 2 0 0 13
Tip-toe gait 0 0 0 0 0 0 3 3

All variants with conflicting interpretations #

Total variants: 83
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004380.3(CREBBP):c.5436C>G (p.Thr1812=) rs61731405 0.00124
NM_004380.3(CREBBP):c.3831C>T (p.Pro1277=) rs141869477 0.00117
NM_004380.3(CREBBP):c.4350C>T (p.Tyr1450=) rs144832179 0.00116
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883 0.00113
NM_004380.3(CREBBP):c.5829G>A (p.Pro1943=) rs546554430 0.00103
NM_004380.3(CREBBP):c.7302G>A (p.Thr2434=) rs144609433 0.00103
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu) rs142047649 0.00102
NM_004380.3(CREBBP):c.383C>G (p.Ser128Cys) rs55790011 0.00069
NM_004380.3(CREBBP):c.2850G>A (p.Thr950=) rs141651423 0.00054
NM_004380.3(CREBBP):c.760G>A (p.Ala254Thr) rs148781922 0.00051
NM_004380.3(CREBBP):c.2950A>T (p.Asn984Tyr) rs140406003 0.00049
NM_004380.3(CREBBP):c.5886C>T (p.Ile1962=) rs370565083 0.00049
NM_004380.3(CREBBP):c.5770G>A (p.Val1924Met) rs368145743 0.00044
NM_004380.3(CREBBP):c.6661A>C (p.Met2221Leu) rs200716582 0.00040
NM_004380.3(CREBBP):c.3158C>T (p.Pro1053Leu) rs142008620 0.00038
NM_004380.3(CREBBP):c.4119C>T (p.Pro1373=) rs3025679 0.00038
NM_004380.3(CREBBP):c.458C>T (p.Pro153Leu) rs146538907 0.00038
NM_004380.3(CREBBP):c.2616G>A (p.Thr872=) rs781112420 0.00030
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro) rs587783504 0.00030
NM_004380.3(CREBBP):c.2239A>G (p.Met747Val) rs142932907 0.00029
NM_004380.3(CREBBP):c.2811G>A (p.Pro937=) rs146168040 0.00029
NM_004380.3(CREBBP):c.3985C>T (p.Leu1329=) rs149055008 0.00029
NM_004380.3(CREBBP):c.1399G>A (p.Ala467Thr) rs202225861 0.00019
NM_004380.3(CREBBP):c.905G>A (p.Ser302Asn) rs200154055 0.00019
NM_004380.3(CREBBP):c.6165C>T (p.Ser2055=) rs368704484 0.00017
NM_004380.3(CREBBP):c.6340G>A (p.Gly2114Ser) rs139169188 0.00017
NM_004380.3(CREBBP):c.2846C>T (p.Pro949Leu) rs147083140 0.00015
NM_004380.3(CREBBP):c.833A>C (p.Gln278Pro) rs577305576 0.00015
NM_004380.3(CREBBP):c.3841G>A (p.Val1281Ile) rs201874248 0.00014
NM_004380.3(CREBBP):c.6090G>A (p.Gln2030=) rs374969185 0.00014
NM_004380.3(CREBBP):c.6351C>T (p.Pro2117=) rs142846349 0.00014
NM_004380.3(CREBBP):c.4280+8T>C rs376814421 0.00013
NM_004380.3(CREBBP):c.5747T>C (p.Met1916Thr) rs559294915 0.00013
NM_004380.3(CREBBP):c.6656C>T (p.Ala2219Val) rs150461438 0.00013
NM_004380.3(CREBBP):c.2526G>A (p.Gln842=) rs141775567 0.00012
NM_004380.3(CREBBP):c.6852C>G (p.Thr2284=) rs201161108 0.00011
NM_004380.3(CREBBP):c.5271C>T (p.Gly1757=) rs190121951 0.00010
NM_004380.3(CREBBP):c.3982+10G>A rs370093745 0.00007
NM_004380.3(CREBBP):c.2415G>A (p.Ala805=) rs368664039 0.00006
NM_004380.3(CREBBP):c.5361C>T (p.Asn1787=) rs375462934 0.00006
NM_004380.3(CREBBP):c.177T>A (p.Leu59=) rs201027381 0.00005
NM_004380.3(CREBBP):c.3060+10G>A rs398124143 0.00005
NM_004380.3(CREBBP):c.6195C>T (p.Ser2065=) rs374150949 0.00005
NM_004380.3(CREBBP):c.1275T>C (p.His425=) rs758886547 0.00004
NM_004380.3(CREBBP):c.2112A>G (p.Pro704=) rs398124142 0.00004
NM_004380.3(CREBBP):c.2413G>A (p.Ala805Thr) rs370128808 0.00004
NM_004380.3(CREBBP):c.2598G>T (p.Met866Ile) rs771016864 0.00004
NM_004380.3(CREBBP):c.423T>G (p.Ser141=) rs760605470 0.00004
NM_004380.3(CREBBP):c.6433A>G (p.Met2145Val) rs758386187 0.00004
NM_004380.3(CREBBP):c.6678G>A (p.Ala2226=) rs750845399 0.00004
NM_004380.3(CREBBP):c.7089G>A (p.Pro2363=) rs199610814 0.00004
NM_004380.3(CREBBP):c.711C>T (p.Ser237=) rs146049063 0.00004
NM_004380.3(CREBBP):c.6006G>T (p.Val2002=) rs768100377 0.00003
NM_004380.3(CREBBP):c.2482G>T (p.Ala828Ser) rs779000839 0.00002
NM_004380.3(CREBBP):c.3021G>C (p.Glu1007Asp) rs774653315 0.00002
NM_004380.3(CREBBP):c.4073T>C (p.Phe1358Ser) rs762638591 0.00002
NM_004380.3(CREBBP):c.2943A>G (p.Ala981=) rs1053049323 0.00001
NM_004380.3(CREBBP):c.3485A>G (p.Asn1162Ser) rs148166625 0.00001
NM_004380.3(CREBBP):c.4992C>T (p.Arg1664=) rs756979739 0.00001
NM_004380.3(CREBBP):c.504G>A (p.Thr168=) rs373310969 0.00001
NM_004380.3(CREBBP):c.6449C>T (p.Pro2150Leu) rs587783512 0.00001
NM_004380.3(CREBBP):c.6684C>T (p.His2228=) rs138613594 0.00001
NM_004380.3(CREBBP):c.1217-7G>A rs2053519519
NM_004380.3(CREBBP):c.1331-12_1331-9del rs765955245
NM_004380.3(CREBBP):c.2312A>G (p.Gln771Arg) rs147805823
NM_004380.3(CREBBP):c.2355_2366del (p.Ala787_Gln790del) rs755265819
NM_004380.3(CREBBP):c.250C>A (p.Pro84Thr) rs770952413
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004380.3(CREBBP):c.2728A>T (p.Thr910Ser) rs143247685
NM_004380.3(CREBBP):c.3205G>T (p.Gly1069Cys) rs555109138
NM_004380.3(CREBBP):c.3232T>C (p.Ser1078Pro)
NM_004380.3(CREBBP):c.3250+4G>A
NM_004380.3(CREBBP):c.4890+2T>C rs786205495
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val) rs797045037
NM_004380.3(CREBBP):c.6384_6401del (p.Gln2128_Met2133del) rs772003652
NM_004380.3(CREBBP):c.6594GCA[2] (p.Gln2214_Gln2216del) rs746121736
NM_004380.3(CREBBP):c.6600GCAGCAGCAACA[1] (p.Gln2213_Gln2216del) rs750150018
NM_004380.3(CREBBP):c.6621_6629del (p.Gln2214_Gln2216del) rs727503890
NM_004380.3(CREBBP):c.6624_6635del (p.Gln2213_Gln2216del) rs763108828
NM_004380.3(CREBBP):c.6666_6677del (p.2220_2223GMAG[1]) rs778220523
NM_004380.3(CREBBP):c.712G>A (p.Val238Met) rs146887252
NM_004380.3(CREBBP):c.712G>C (p.Val238Leu) rs146887252
NM_004380.3(CREBBP):c.753T>G (p.Thr251=) rs142403441

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