ClinVar Miner

Variants with conflicting interpretations studied for Short Rib Polydactyly Syndrome

Coded as:
Minimum review status of the submission for Short Rib Polydactyly Syndrome: Y axis collection method of the submission for Short Rib Polydactyly Syndrome:
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
44 187 0 47 61 0 3 109

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
Short Rib Polydactyly Syndrome pathogenic likely pathogenic uncertain significance likely benign benign
likely pathogenic 10 0 1 0 0
uncertain significance 2 1 0 36 30
likely benign 0 0 1 0 36
benign 0 0 0 1 0

Condition to condition summary #

Total conditions: 18
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 22 0 22 56 0 1 79
not specified 0 27 0 35 19 0 1 55
Short rib-polydactyly syndrome, Majewski type 0 2 0 6 0 0 0 6
Jeune thoracic dystrophy 0 157 0 1 2 0 2 5
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24 0 2 0 4 0 0 0 4
SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY 0 0 0 2 0 0 0 2
SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY 0 0 0 2 0 0 0 2
SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY 0 0 0 2 0 0 0 2
Short-rib thoracic dysplasia 16 with or without polydactyly 0 0 0 2 0 0 0 2
Cranioectodermal dysplasia 2 0 1 0 1 0 0 0 1
Cranioectodermal dysplasia 2; Short rib polydactyly syndrome 5 0 0 0 1 0 0 0 1
DYNC2H1-Related Disorders 0 0 0 0 0 0 1 1
Multiple Epiphyseal Dysplasia, Dominant 0 2 0 1 0 0 0 1
Narrow chest; Intrauterine growth retardation; Bowing of the long bones 0 0 0 0 0 0 1 1
SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY 0 0 0 1 0 0 1 1
Short rib polydactyly syndrome 5 0 2 0 1 0 0 0 1
Short-rib thoracic dysplasia 3 with or without polydactyly 0 4 0 0 0 0 1 1
Short-rib thoracic dysplasia 7/20 with polydactyly, digenic 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 109
Download table as spreadsheet
HGVS dbSNP
NM_001006657.2(WDR35):c.1501del (p.Gln501fs) rs886044119
NM_001006657.2(WDR35):c.1579C>T (p.Gln527Ter) rs1050086118
NM_001006657.2(WDR35):c.932G>T (p.Trp311Leu) rs200649783
NM_001377.3(DYNC2H1):c.10043-7T>A rs376067770
NM_001377.3(DYNC2H1):c.1021C>T (p.His341Tyr) rs17301182
NM_001377.3(DYNC2H1):c.10461A>G (p.Gln3487=) rs75143468
NM_001377.3(DYNC2H1):c.10479C>G (p.Leu3493=) rs151056947
NM_001377.3(DYNC2H1):c.10834G>C (p.Asp3612His) rs116872934
NM_001377.3(DYNC2H1):c.10845G>A (p.Pro3615=) rs187451323
NM_001377.3(DYNC2H1):c.11238C>T (p.Ser3746=) rs78599571
NM_001377.3(DYNC2H1):c.1134+8A>G rs138290301
NM_001377.3(DYNC2H1):c.11578C>A (p.Arg3860=) rs777253444
NM_001377.3(DYNC2H1):c.11703C>T (p.Asn3901=) rs144624858
NM_001377.3(DYNC2H1):c.12007G>A (p.Ala4003Thr) rs61737514
NM_001377.3(DYNC2H1):c.12254G>A (p.Arg4085His) rs115480556
NM_001377.3(DYNC2H1):c.1233A>G (p.Gln411=) rs116888435
NM_001377.3(DYNC2H1):c.12366+8A>G rs200404815
NM_001377.3(DYNC2H1):c.12457-6C>T rs11225812
NM_001377.3(DYNC2H1):c.1263C>A (p.Phe421Leu) rs142881106
NM_001377.3(DYNC2H1):c.12865G>C (p.Gly4289Arg) rs144717489
NM_001377.3(DYNC2H1):c.1367G>A (p.Arg456Gln) rs17099969
NM_001377.3(DYNC2H1):c.195+7T>C rs112718117
NM_001377.3(DYNC2H1):c.2005A>G (p.Lys669Glu) rs189533535
NM_001377.3(DYNC2H1):c.21C>T (p.Asp7=) rs17301028
NM_001377.3(DYNC2H1):c.2244C>T (p.His748=) rs373707570
NM_001377.3(DYNC2H1):c.2454G>A (p.Glu818=) rs77738279
NM_001377.3(DYNC2H1):c.2550G>A (p.Leu850=) rs375307767
NM_001377.3(DYNC2H1):c.2818+13T>C rs150786504
NM_001377.3(DYNC2H1):c.2860G>A (p.Glu954Lys) rs61898615
NM_001377.3(DYNC2H1):c.3012T>C (p.Gly1004=) rs202082545
NM_001377.3(DYNC2H1):c.337C>T (p.Arg113Trp) rs745569868
NM_001377.3(DYNC2H1):c.33C>T (p.Leu11=) rs373977008
NM_001377.3(DYNC2H1):c.366+10G>A rs200257097
NM_001377.3(DYNC2H1):c.3660T>C (p.Pro1220=) rs118191062
NM_001377.3(DYNC2H1):c.3735C>T (p.Ala1245=) rs377584612
NM_001377.3(DYNC2H1):c.3862A>G (p.Thr1288Ala) rs17301750
NM_001377.3(DYNC2H1):c.4068C>T (p.Phe1356=) rs74713170
NM_001377.3(DYNC2H1):c.4127+10A>G rs369188420
NM_001377.3(DYNC2H1):c.4192A>C (p.Arg1398=) rs371259464
NM_001377.3(DYNC2H1):c.4959T>C (p.Tyr1653=) rs201863754
NM_001377.3(DYNC2H1):c.5177G>A (p.Arg1726Gln) rs564701277
NM_001377.3(DYNC2H1):c.5511C>T (p.Asp1837=) rs201953670
NM_001377.3(DYNC2H1):c.5558+4A>G rs11225578
NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile) rs150887098
NM_001377.3(DYNC2H1):c.6139+7C>T rs200749262
NM_001377.3(DYNC2H1):c.645A>G (p.Leu215=) rs116666272
NM_001377.3(DYNC2H1):c.6478-6C>T rs114254215
NM_001377.3(DYNC2H1):c.6558C>T (p.Asp2186=) rs199675558
NM_001377.3(DYNC2H1):c.7122G>A (p.Leu2374=) rs116574613
NM_001377.3(DYNC2H1):c.7143A>G (p.Val2381=) rs79832792
NM_001377.3(DYNC2H1):c.7540+14G>A rs115273161
NM_001377.3(DYNC2H1):c.8580A>G (p.Glu2860=) rs17394217
NM_001377.3(DYNC2H1):c.8946+10A>C rs550521675
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027
NM_001377.3(DYNC2H1):c.911A>T (p.Gln304Leu) rs12146610
NM_001377.3(DYNC2H1):c.9231+12G>A rs369045696
NM_001377.3(DYNC2H1):c.9297T>C (p.Tyr3099=) rs180787556
NM_001377.3(DYNC2H1):c.9353+7G>A rs78309870
NM_001377.3(DYNC2H1):c.9749A>G (p.Gln3250Arg) rs140830294
NM_001377.3(DYNC2H1):c.9865G>C (p.Glu3289Gln) rs200326353
NM_001377.3(DYNC2H1):c.9939T>C (p.Ala3313=) rs192003811
NM_002381.5(MATN3):c.1406-4C>T rs35973216
NM_012224.3(NEK1):c.1021G>A (p.Ala341Thr) rs189186475
NM_012224.3(NEK1):c.1081-15dup rs398124255
NM_012224.3(NEK1):c.1146T>C (p.Ile382=) rs56064008
NM_012224.3(NEK1):c.1388C>T (p.Ala463Val) rs34540355
NM_012224.3(NEK1):c.1500T>C (p.Ala500=) rs776664093
NM_012224.3(NEK1):c.1581T>C (p.Ala527=) rs184804243
NM_012224.3(NEK1):c.1746A>G (p.Glu582=) rs17544885
NM_012224.3(NEK1):c.1792G>A (p.Ala598Thr) rs33933790
NM_012224.3(NEK1):c.2337C>T (p.Phe779=) rs56346829
NM_012224.3(NEK1):c.2680+12T>A rs77658514
NM_012224.3(NEK1):c.2949G>A (p.Pro983=) rs7655924
NM_012224.3(NEK1):c.3327G>A (p.Leu1109=) rs56077602
NM_012224.3(NEK1):c.3483C>T (p.Asn1161=) rs200710438
NM_012224.3(NEK1):c.3499+8A>C rs192372022
NM_012224.3(NEK1):c.3538G>A (p.Asp1180Asn) rs35503975
NM_012224.3(NEK1):c.3540T>C (p.Asp1180=) rs55740606
NM_012224.3(NEK1):c.607-3T>C rs55679731
NM_012224.3(NEK1):c.686A>G (p.Tyr229Cys) rs61737748
NM_014055.4(IFT81):c.1300_1302CTT[1] (p.Leu435del) rs1555266475
NM_015693.4(INTU):c.1063G>T (p.Glu355Ter) rs1037828930
NM_015693.4(INTU):c.1499A>C (p.Glu500Ala) rs1360128571
NM_016004.5(IFT52):c.595G>A (p.Ala199Thr) rs886037869
NM_016004.5(IFT52):c.878del (p.Leu293fs) rs886037870
NM_020779.4(WDR35):c.1058G>C (p.Arg353Pro) rs76623454
NM_020779.4(WDR35):c.1089G>A (p.Thr363=) rs79829477
NM_020779.4(WDR35):c.1195-1693A>G rs144673252
NM_020779.4(WDR35):c.1591C>G (p.Leu531Val) rs148242353
NM_020779.4(WDR35):c.1601G>A (p.Arg534Gln) rs113345685
NM_020779.4(WDR35):c.2149A>G (p.Ile717Val) rs144493712
NM_020779.4(WDR35):c.215-4C>G rs369080910
NM_020779.4(WDR35):c.2220C>T (p.Phe740=) rs535522970
NM_020779.4(WDR35):c.2262C>T (p.Asp754=) rs147206032
NM_020779.4(WDR35):c.2566G>T (p.Val856Phe) rs149667250
NM_020779.4(WDR35):c.2599G>A (p.Ala867Thr) rs2293669
NM_020779.4(WDR35):c.2678T>C (p.Leu893Ser) rs151047156
NM_020779.4(WDR35):c.2777A>G (p.Tyr926Cys) rs75602337
NM_020779.4(WDR35):c.2965-4G>T rs199696980
NM_020779.4(WDR35):c.3121+12A>C rs28502265
NM_020779.4(WDR35):c.3121+3G>A rs200042577
NM_020779.4(WDR35):c.3279G>C (p.Gln1093His) rs148436608
NM_020779.4(WDR35):c.355C>T (p.Arg119Cys) rs140308808
NM_020779.4(WDR35):c.53A>G (p.Gln18Arg) rs1060742
NM_020779.4(WDR35):c.549C>T (p.Tyr183=) rs34169020
NM_020779.4(WDR35):c.765C>T (p.Tyr255=) rs117255034
NM_020779.4(WDR35):c.770T>C (p.Val257Ala) rs142955097
NM_052873.3(IFT43):c.2T>A (p.Met1Lys) rs769724508
NM_052873.3(IFT43):c.535T>C (p.Trp179Arg) rs1555369050

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