ClinVar Miner

Variants with conflicting interpretations studied for Retinitis pigmentosa

Coded as:
Minimum review status of the submission for Retinitis pigmentosa: Y axis collection method of the submission for Retinitis pigmentosa:
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 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
241 72 6 51 6 0 54 102

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
Retinitis pigmentosa pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 5 14 4 0 0
likely pathogenic 39 1 43 7 3
uncertain significance 4 7 0 3 1
likely benign 0 0 2 0 1

Condition to condition summary #

Total conditions: 56
Download table as spreadsheet
Condition 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
not provided 0 42 2 22 4 0 23 47
Usher syndrome, type 2A; Retinitis pigmentosa 39 0 19 0 5 0 0 13 17
not specified 0 4 0 1 3 0 11 15
Retinal dystrophy 0 13 1 4 0 0 3 8
Retinitis pigmentosa 39 0 5 3 2 0 0 4 8
Retinitis pigmentosa 406 3 1 3 0 0 2 6
Usher syndrome, type 2A 0 8 3 3 0 0 1 6
Retinitis pigmentosa 25 0 8 0 1 0 0 4 5
Inborn genetic diseases 0 1 1 3 1 0 0 4
Juvenile neuronal ceroid lipofuscinosis 0 0 0 2 0 0 2 4
Retinitis pigmentosa 4 0 2 0 4 0 0 0 4
Stargardt disease 1 0 1 0 3 0 0 0 3
RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES 0 0 0 2 0 0 0 2
Retinal dystrophy with or without extraocular anomalies 0 0 0 2 0 0 0 2
Retinitis Pigmentosa, Dominant 0 0 0 0 0 0 2 2
Retinitis Pigmentosa, Recessive 0 0 0 0 1 0 1 2
Retinitis pigmentosa 26 0 2 0 0 0 0 2 2
Retinitis pigmentosa 40 0 3 0 2 0 0 0 2
Retinitis pigmentosa 45 0 0 0 1 0 0 1 2
Retinitis pigmentosa 49 0 0 0 2 0 0 0 2
Usher syndrome 0 4 1 1 0 0 0 2
Abnormality of the eye 0 1 0 0 0 0 1 1
Achromatopsia 0 0 0 0 0 0 1 1
Achromatopsia 3 0 1 0 0 0 0 1 1
Bardet-Biedl syndrome 0 1 0 1 0 0 0 1
Bardet-Biedl syndrome 1 0 2 0 1 0 0 0 1
Blurred vision; Nyctalopia; Peripheral visual field loss 0 0 0 1 0 0 0 1
Cone dystrophy 3 0 0 0 1 0 0 0 1
Cone-rod dystrophy 3 0 0 0 1 0 0 0 1
Cone/cone-rod dystrophy 0 1 0 0 0 0 1 1
Congenital Stationary Night Blindness, Dominant 0 0 0 0 0 0 1 1
Enhanced s-cone syndrome; Retinitis pigmentosa 37 0 0 0 0 0 0 1 1
Hearing impairment 0 1 0 0 0 0 1 1
Joubert syndrome 3 0 1 0 1 0 0 0 1
Knobloch syndrome 1 0 0 0 1 0 0 0 1
Leber congenital amaurosis 0 0 0 0 0 0 1 1
Leber congenital amaurosis 10 0 0 1 0 0 0 0 1
Leber congenital amaurosis 13 0 0 1 0 0 0 0 1
Macular dystrophy 0 2 0 1 0 0 0 1
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 0 0 0 0 0 0 1 1
Neuronal ceroid lipofuscinosis 0 0 0 0 0 0 1 1
Phytanic acid storage disease 0 1 0 0 0 0 1 1
RLBP1-Related Disorders 0 0 0 1 0 0 0 1
Refsum disease, adult, 1 0 0 0 1 0 0 0 1
Retinitis pigmentosa 15 0 1 0 1 0 0 0 1
Retinitis pigmentosa 19 0 1 0 0 0 0 1 1
Retinitis pigmentosa 33 0 0 0 1 0 0 0 1
Retinitis pigmentosa 36 0 0 0 0 0 0 1 1
Retinitis pigmentosa 38 0 0 0 0 0 0 1 1
Retinitis pigmentosa 48 0 0 0 0 0 0 1 1
Retinitis punctata albescens 0 1 0 1 0 0 0 1
Seizures 0 0 0 0 0 0 1 1
Short stature; Cognitive impairment; High palate; Distal arthrogryposis; Anxiety; Brisk reflexes; Dysautonomia; Abnormality of the upper limb; Multiple joint contractures; Dislocated radial head; Abnormality of upper limb joint; Chronic pain; Abnormality of upper limb bone 0 0 1 0 0 0 0 1
Spondylometaphyseal dysplasia axial 0 0 0 1 0 0 0 1
USH2A-Related Disorders 0 0 1 1 0 0 0 1
Usher syndrome, type 3A 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 102
Download table as spreadsheet
HGVS dbSNP
NM_000086.2(CLN3):c.853A>G (p.Ile285Val) rs748844685
NM_000087.3(CNGA1):c.959C>T rs62625014
NM_000283.3(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981
NM_000283.3(PDE6B):c.1678C>T (p.Arg560Cys) rs201541131
NM_000283.3(PDE6B):c.1923_1969del47insTCTGGG (p.Asn643Glyfs) rs869312177
NM_000283.3(PDE6B):c.291C>A (p.Tyr97Ter) rs876657718
NM_000283.3(PDE6B):c.739T>A (p.Phe247Ile) rs780521818
NM_000322.4(PRPH2):c.499G>A (p.Gly167Ser) rs527236098
NM_000326.4(RLBP1):c.677T>A (p.Met226Lys) rs137853291
NM_000350.2(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000350.2(ABCA4):c.3364G>A (p.Glu1122Lys) rs61751399
NM_000350.2(ABCA4):c.4537dupC (p.Gln1513Profs) rs281865377
NM_000350.2(ABCA4):c.5836-3C>A rs1064793013
NM_000350.2(ABCA4):c.6729+5_6729+19delGTTGGCCCTGGGGCA rs749526785
NM_000409.4(GUCA1A):c.296A>G (p.Tyr99Cys) rs104893967
NM_000440.2(PDE6A):c.1705C>A (p.Gln569Lys) rs139444207
NM_000440.2(PDE6A):c.1957C>T (p.Arg653Ter) rs753942596
NM_000440.2(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) rs29001566
NM_000539.3(RHO):c.158C>G (p.Pro53Arg) rs28933395
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) rs775557680
NM_000539.3(RHO):c.568G>T (p.Asp190Tyr) rs104893779
NM_001030311.2(CERKL):c.1381C>T (p.Arg461Ter) rs1187839124
NM_001030311.2(CERKL):c.613+4_613+5delAG rs766131721
NM_001034853.1(RPGR):c.2384delA (p.Glu795Glyfs)
NM_001042432.1(CLN3):c.1213C>T (p.Arg405Trp) rs139842473
NM_001042432.1(CLN3):c.379delC (p.Arg127Glyfs) rs386833717
NM_001042432.1(CLN3):c.461-280_677+383del rs1555468632
NM_001042432.1(CLN3):c.837+5G>A rs756848924
NM_001042432.1(CLN3):c.988G>A (p.Val330Ile) rs386833744
NM_001077620.2(PRCD):c.2T>C (p.Met1Thr) rs527236092
NM_001142564.1(CNGA1):c.1747C>T (p.Arg583Ter) rs199584830
NM_001142564.1(CNGA1):c.398delG (p.Gly133Valfs) rs527236058
NM_001142800.1(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001142800.1(EYS):c.2137+1G>A rs199740930
NM_001142800.1(EYS):c.5510G>C (p.Trp1837Ser) rs199689193
NM_001142800.1(EYS):c.6714delT (p.Ile2239Serfs) rs752953889
NM_001142800.1(EYS):c.8368A>G (p.Arg2790Gly) rs1554163993
NM_001142800.1(EYS):c.977G>A (p.Ser326Asn) rs112822256
NM_001195794.1(CLRN1):c.144T>G (p.Asn48Lys) rs111033258
NM_001271441.1(CFAP410):c.218G>C (p.Arg73Pro) rs140451304
NM_001297.4(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411
NM_001297.4(CNGB1):c.413-1G>A rs189234741
NM_001297.4(CNGB1):c.952C>T (p.Gln318Ter) rs372504780
NM_002098.5(GUCA1B):c.469G>A (p.Gly157Arg) rs121909124
NM_006214.3(PHYH):c.678+5G>T rs201499815
NM_006214.3(PHYH):c.823C>T (p.Arg275Trp) rs104894178
NM_006269.1(RP1):c.616-6T>C rs186571865
NM_006343.2(MERTK):c.1450G>A (p.Gly484Ser) rs527236084
NM_006343.2(MERTK):c.2180G>A (p.Arg727Gln) rs878853354
NM_014014.4(SNRNP200):c.1871G>A (p.Arg624Lys) rs527236115
NM_014014.4(SNRNP200):c.3260C>T (p.Ser1087Leu) rs267607077
NM_014249.3(NR2E3):c.364C>T (p.Arg122Cys) rs527236086
NM_016247.3(IMPG2):c.3262C>T (p.Arg1088Ter) rs199867882
NM_017651.4(AHI1):c.2174G>A (p.Trp725Ter) rs587783013
NM_017651.4(AHI1):c.2988delA (p.Val997Serfs) rs755246809
NM_018191.3(RCBTB1):c.1164G>T (p.Leu388Phe) rs879255547
NM_018191.3(RCBTB1):c.919G>A (p.Val307Met) rs368217569
NM_018191.3(RCBTB1):c.930G>T (p.Trp310Cys) rs772592456
NM_018191.3(RCBTB1):c.973C>T (p.His325Tyr) rs200826424
NM_019098.4(CNGB3):c.1208G>A rs147876778
NM_024649.4(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_025114.3(CEP290):c.2991+1655A>G rs281865192
NM_033100.3(CDHR1):c.2522_2528delTCTCTGA (p.Ile841Serfs) rs794727197
NM_130445.2(COL18A1):c.3514_3515delCT (p.Leu1172Valfs) rs398122391
NM_152443.2(RDH12):c.806_810delCCCTG (p.Ala269Glyfs) rs386834261
NM_152778.2(MFSD8):c.1361T>C (p.Met454Thr) rs559155109
NM_206933.2(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051
NM_206933.2(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814
NM_206933.2(USH2A):c.11156G>A (p.Arg3719His) rs527236139
NM_206933.2(USH2A):c.12145G>A (p.Ala4049Thr) rs143696882
NM_206933.2(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803
NM_206933.2(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156
NM_206933.2(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.2(USH2A):c.12874A>G (p.Asn4292Asp) rs397517984
NM_206933.2(USH2A):c.13126T>G (p.Trp4376Gly) rs775490668
NM_206933.2(USH2A):c.13274C>T (p.Thr4425Met) rs201238640
NM_206933.2(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544
NM_206933.2(USH2A):c.13396C>T (p.Pro4466Ser) rs138398671
NM_206933.2(USH2A):c.14020A>G (p.Arg4674Gly) rs80338904
NM_206933.2(USH2A):c.14243C>T (p.Ser4748Phe) rs527236126
NM_206933.2(USH2A):c.14276G>A (p.Gly4759Glu) rs112459877
NM_206933.2(USH2A):c.15233C>G (p.Pro5078Arg) rs527236122
NM_206933.2(USH2A):c.15433G>A (p.Val5145Ile) rs111033269
NM_206933.2(USH2A):c.1966G>A (p.Asp656Asn) rs146824138
NM_206933.2(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.2(USH2A):c.2299delG (p.Glu767Serfs) rs80338903
NM_206933.2(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_206933.2(USH2A):c.2802T>G (p.Cys934Trp) rs201527662
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524
NM_206933.2(USH2A):c.4027A>C (p.Asn1343His) rs754634823
NM_206933.2(USH2A):c.4714C>T (p.Leu1572Phe) rs111033333
NM_206933.2(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116
NM_206933.2(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911
NM_206933.2(USH2A):c.6446C>A (p.Pro2149Gln) rs869312182
NM_206933.2(USH2A):c.653T>A (p.Val218Glu) rs397518026
NM_206933.2(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844
NM_206933.2(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579
NM_206933.2(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041
NM_206933.2(USH2A):c.9571-2A>G rs751111524
NM_206933.2(USH2A):c.9882C>G (p.Cys3294Trp) rs749228276
NM_206933.2(USH2A):c.9976C>T (p.Gln3326Ter) rs1288381992

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.