ClinVar Miner

Variants with conflicting interpretations studied for Connective tissue disorder

Coded as:
Minimum review status of the submission for Connective tissue disorder: Y axis collection method of the submission for Connective tissue disorder:
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
176 96 0 137 132 0 8 238

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
Connective tissue disorder pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 3 0 0
likely pathogenic 0 0 1 0 0
uncertain significance 1 1 0 22 10
likely benign 1 1 110 0 136

Condition to condition summary #

Total conditions: 50
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 specified 0 112 0 102 39 0 0 137
not provided 0 37 0 30 52 0 2 80
Thoracic aortic aneurysm and aortic dissection 0 24 0 23 33 0 3 55
Cardiovascular phenotype 0 90 0 27 23 0 1 51
Ehlers-Danlos syndrome, classic type 0 15 0 14 9 0 1 23
Congenital contractural arachnodactyly 0 10 0 14 6 0 0 20
Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 0 4 0 20 0 0 0 20
Aortic aneurysm, familial thoracic 4 0 10 0 8 10 0 0 18
Adams-Oliver syndrome 5 0 22 0 12 3 0 0 15
Aortic aneurysm, familial thoracic 7 0 6 0 4 6 0 0 10
Stickler Syndrome, Dominant 0 12 0 0 9 0 0 9
Osteogenesis imperfecta type I 0 2 0 4 4 0 0 8
Marfan syndrome 0 5 0 5 3 0 0 7
Ehlers-Danlos syndrome, type 4 0 3 0 2 4 0 0 6
Ehlers-Danlos syndrome, type 7A 0 17 0 0 6 0 0 6
Type II Collagenopathies 0 0 0 0 6 0 0 6
Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I 0 5 0 2 3 0 0 5
Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 0 8 0 4 1 0 0 5
Loeys-Dietz syndrome 0 5 0 1 3 0 1 4
Osteogenesis Imperfecta, Dominant 0 2 0 0 4 0 0 4
Ehlers-Danlos syndrome, procollagen proteinase deficient 0 2 0 0 3 0 0 3
Familial aortopathy 0 0 0 2 0 0 1 3
Fibrochondrogenesis 0 12 0 0 3 0 0 3
History of neurodevelopmental disorder 0 8 0 3 0 0 0 3
Lissencephaly, Recessive 0 0 0 0 3 0 0 3
Aortic aneurysm, familial thoracic 8 0 1 0 1 1 0 0 2
Holt-Oram syndrome 0 0 0 2 0 0 0 2
Nonsyndromic Hearing Loss, Dominant 0 4 0 0 2 0 0 2
Otospondylomegaepiphyseal dysplasia 0 4 0 0 2 0 0 2
Weissenbacher-Zweymuller syndrome 0 4 0 0 2 0 0 2
Acromicric dysplasia 0 7 0 0 1 0 0 1
Altered myosin contractile function 0 0 0 0 1 0 0 1
Aortic dilatation 0 0 0 0 1 0 0 1
Aortic valve disorder; Thoracic aortic aneurysm and aortic dissection 0 0 0 0 1 0 0 1
Brain Aneurysm 0 0 0 0 1 0 0 1
Congenital contractural arachnodactyly; Macular degeneration, early-onset 0 0 0 0 1 0 0 1
Ectopia lentis 0 7 0 0 1 0 0 1
Ehlers-Danlos syndrome 0 0 0 0 1 0 0 1
Geleophysic dysplasia 0 7 0 0 1 0 0 1
Infantile cortical hyperostosis 0 0 0 0 1 0 0 1
MASS syndrome 0 6 0 0 1 0 0 1
Macular degeneration, early-onset 0 0 0 0 0 0 1 1
Marfan syndrome, atypical 0 0 0 0 1 0 0 1
Marshall syndrome 0 9 0 0 1 0 0 1
Moyamoya disease 0 0 0 0 1 0 0 1
Multisystemic smooth muscle dysfunction syndrome 0 0 0 0 1 0 0 1
Periventricular nodular heterotopia 1 0 0 0 0 1 0 0 1
Stiff skin syndrome 0 6 0 0 1 0 0 1
Thoracic aortic aneurysm and aortic dissection; Disproportionate tall stature 0 0 0 0 1 0 0 1
Weill-Marchesani syndrome 0 6 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 238
Download table as spreadsheet
HGVS dbSNP
NM_000088.3(COL1A1):c.1984-5C>A rs66592376
NM_000088.3(COL1A1):c.2932C>T (p.Pro978Ser) rs193922153
NM_000088.3(COL1A1):c.3099+7T>C rs201682029
NM_000088.3(COL1A1):c.3243T>C (p.Val1081=) rs1800217
NM_000088.3(COL1A1):c.3580G>A (p.Ala1194Thr) rs769571473
NM_000088.3(COL1A1):c.4018G>A (p.Gly1340Ser) rs147936946
NM_000088.3(COL1A1):c.4181A>G (p.Asn1394Ser) rs147266928
NM_000088.3(COL1A1):c.613C>G (p.Pro205Ala) rs72667032
NM_000088.3(COL1A1):c.904-9G>T rs141726413
NM_000089.3(COL1A2):c.2123G>A (p.Arg708Gln) rs72658163
NM_000089.3(COL1A2):c.2168A>G (p.Asn723Ser) rs189374343
NM_000089.3(COL1A2):c.2425C>T (p.Pro809Ser) rs145355907
NM_000089.3(COL1A2):c.2566-6A>G rs141088934
NM_000089.3(COL1A2):c.304C>T (p.Pro102Ser) rs189557655
NM_000089.3(COL1A2):c.3313G>A (p.Gly1105Ser) rs139851311
NM_000089.3(COL1A2):c.48C>T (p.Thr16=) rs780687409
NM_000089.3(COL1A2):c.81+8A>C rs765118884
NM_000090.3(COL3A1):c.114C>G (p.Ser38=) rs141241764
NM_000090.3(COL3A1):c.119C>T (p.Ala40Val) rs201380807
NM_000090.3(COL3A1):c.1815+5G>A rs146652498
NM_000090.3(COL3A1):c.2805T>C (p.Pro935=) rs111567071
NM_000090.3(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210
NM_000090.3(COL3A1):c.3525+19delG rs138061246
NM_000090.3(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000090.3(COL3A1):c.706C>T (p.Pro236Ser) rs771858477
NM_000090.3(COL3A1):c.812G>A (p.Arg271Gln) rs112185887
NM_000093.4(COL5A1):c.1283C>T (p.Ser428Leu) rs770793962
NM_000093.4(COL5A1):c.1350C>T (p.Gly450=) rs576332528
NM_000093.4(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045
NM_000093.4(COL5A1):c.193C>T (p.Arg65Trp) rs139468527
NM_000093.4(COL5A1):c.3259-8C>T rs146461106
NM_000093.4(COL5A1):c.341C>A (p.Ala114Asp) rs147589613
NM_000093.4(COL5A1):c.3691-9T>C rs187584029
NM_000093.4(COL5A1):c.3906+20G>A rs148053413
NM_000093.4(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509
NM_000093.4(COL5A1):c.4065C>T (p.Pro1355=) rs61737906
NM_000093.4(COL5A1):c.4230+5C>T rs142248898
NM_000093.4(COL5A1):c.4410C>T (p.Pro1470=) rs41310953
NM_000093.4(COL5A1):c.5137-12C>T rs191758714
NM_000093.4(COL5A1):c.514G>T (p.Val172Phe) rs150147262
NM_000093.4(COL5A1):c.5350G>A (p.Ala1784Thr) rs143859495
NM_000093.4(COL5A1):c.61C>T (p.Pro21Ser) rs548525119
NM_000093.4(COL5A1):c.924+13C>T rs199836060
NM_000093.4(COL5A1):c.996C>T (p.Asp332=) rs144763302
NM_000138.4(FBN1):c.1027G>A (p.Gly343Arg) rs146726731
NM_000138.4(FBN1):c.1746C>T (p.Cys582=) rs112366266
NM_000138.4(FBN1):c.2175T>C (p.Asn725=) rs140606
NM_000138.4(FBN1):c.2956G>A (p.Ala986Thr) rs112287730
NM_000138.4(FBN1):c.306C>T (p.Cys102=) rs25388
NM_000138.4(FBN1):c.3514G>A (p.Val1172Met) rs200125037
NM_000138.4(FBN1):c.6594C>T (p.Pro2198=) rs111844882
NM_000138.4(FBN1):c.6700G>A (p.Val2234Met) rs112084407
NM_000138.4(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000138.4(FBN1):c.7201G>T (p.Ala2401Ser) rs771260695
NM_000138.4(FBN1):c.8232G>A (p.Gln2744=) rs376119827
NM_000393.3(COL5A2):c.1301C>T (p.Thr434Met) rs145850743
NM_000393.3(COL5A2):c.1976C>T (p.Pro659Leu) rs145404046
NM_000393.3(COL5A2):c.198T>C (p.Asn66=) rs76511879
NM_000393.3(COL5A2):c.1A>G (p.Met1Val) rs563606558
NM_000393.3(COL5A2):c.2562C>T (p.Asp854=) rs148430780
NM_000393.3(COL5A2):c.261G>A (p.Thr87=) rs142044596
NM_000393.4(COL5A2):c.1182G>A (p.Ala394=) rs148229627
NM_000393.4(COL5A2):c.1618-19C>G rs189970491
NM_000393.4(COL5A2):c.2032-7G>A rs141571092
NM_000393.4(COL5A2):c.2291C>G (p.Pro764Arg) rs150260969
NM_000393.4(COL5A2):c.3201+14C>T rs368713290
NM_000393.4(COL5A2):c.322+8T>C rs372227642
NM_000393.4(COL5A2):c.3316C>T (p.Arg1106Trp) rs146789395
NM_000393.4(COL5A2):c.3364-17C>T rs201720941
NM_000393.4(COL5A2):c.3471+8A>T rs367643805
NM_000393.4(COL5A2):c.4240G>A (p.Asp1414Asn) rs139229616
NM_000393.4(COL5A2):c.4389A>G (p.Glu1463=) rs146100075
NM_000393.4(COL5A2):c.4495G>T (p.Val1499Leu) rs527433112
NM_001024847.2(TGFBR2):c.1732T>A (p.Ser578Thr) rs112215250
NM_001040113.1(MYH11):c.1934C>T (p.Ser645Leu) rs771128441
NM_001040113.1(MYH11):c.3984+6T>C rs373371913
NM_001040113.1(MYH11):c.429G>A (p.Lys143=) rs200672270
NM_001040113.1(MYH11):c.4625G>A (p.Arg1542Gln) rs137934837
NM_001040113.1(MYH11):c.760C>T (p.Arg254Cys) rs150759461
NM_001110556.1(FLNA):c.1176G>A (p.Glu392=) rs201173693
NM_001110556.1(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204
NM_001110556.1(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356
NM_001135599.3(TGFB2):c.114G>A (p.Glu38=) rs149215818
NM_001135599.3(TGFB2):c.441G>A (p.Pro147=) rs138514914
NM_001456.3(FLNA):c.1191C>T (p.Ile397=) rs200048692
NM_001456.3(FLNA):c.1200G>T (p.Lys400Asn) rs781879374
NM_001456.3(FLNA):c.1579C>T (p.Arg527Cys) rs202029322
NM_001456.3(FLNA):c.1691+7C>A rs199565118
NM_001456.3(FLNA):c.1828+3A>G rs368041880
NM_001456.3(FLNA):c.1875C>T (p.Asp625=) rs200660642
NM_001456.3(FLNA):c.2313G>A (p.Lys771=) rs782741007
NM_001456.3(FLNA):c.237G>C (p.Ala79=) rs200626788
NM_001456.3(FLNA):c.2449C>T (p.Pro817Ser) rs200053635
NM_001456.3(FLNA):c.3421G>A (p.Ala1141Thr) rs201908251
NM_001456.3(FLNA):c.3522C>T (p.Thr1174=) rs373625856
NM_001456.3(FLNA):c.3678C>T (p.Pro1226=) rs377579695
NM_001456.3(FLNA):c.3805+16G>A rs201016252
NM_001456.3(FLNA):c.3876C>T (p.His1292=) rs199917719
NM_001456.3(FLNA):c.4263C>T (p.Thr1421=) rs398123618
NM_001456.3(FLNA):c.4737G>C (p.Leu1579=) rs201904661
NM_001456.3(FLNA):c.5227C>T (p.Pro1743Ser) rs56102764
NM_001456.3(FLNA):c.5565C>T (p.Val1855=) rs200787122
NM_001456.3(FLNA):c.5948C>T (p.Ser1983Leu) rs187029309
NM_001456.3(FLNA):c.62_64dupTCG (p.Val21_Asp22insVal) rs782721874
NM_001456.3(FLNA):c.7197C>T (p.Asn2399=) rs782129907
NM_001456.3(FLNA):c.7243C>T (p.Pro2415Ser) rs200198847
NM_001456.3(FLNA):c.7732+8A>G rs201663443
NM_001613.3(ACTA2):c.390T>C (p.Asn130=) rs141933412
NM_001844.4(COL2A1):c.1366-13C>A rs200984998
NM_001844.4(COL2A1):c.195C>T (p.Asp65=) rs202210896
NM_001844.4(COL2A1):c.2095-4G>A rs111570218
NM_001844.4(COL2A1):c.2334C>T (p.Ala778=) rs35504014
NM_001844.4(COL2A1):c.2574C>T (p.Gly858=) rs141423593
NM_001844.4(COL2A1):c.3736G>A (p.Gly1246Ser) rs147569641
NM_001844.4(COL2A1):c.3786C>G (p.Leu1262=) rs139114389
NM_001844.4(COL2A1):c.4095T>C (p.Asn1365=) rs367625071
NM_001844.4(COL2A1):c.550G>A (p.Ala184Thr) rs201817670
NM_001844.4(COL2A1):c.85+10C>G rs769941617
NM_001854.3(COL11A1):c.1522A>G (p.Thr508Ala) rs55851925
NM_001854.3(COL11A1):c.2916+3A>G rs200515572
NM_001854.3(COL11A1):c.2921C>A (p.Pro974Gln) rs78046647
NM_001854.3(COL11A1):c.328G>C (p.Gly110Arg) rs141978499
NM_001854.3(COL11A1):c.4032G>A (p.Pro1344=) rs147637674
NM_001854.3(COL11A1):c.4140+10A>T rs187171126
NM_001854.3(COL11A1):c.4802C>A (p.Thr1601Asn) rs143206624
NM_001854.3(COL11A1):c.5198G>A (p.Arg1733His) rs140250347
NM_001999.3(FBN2):c.1040G>A (p.Arg347His) rs112428886
NM_001999.3(FBN2):c.1850-9C>T rs199937209
NM_001999.3(FBN2):c.2260G>A (p.Gly754Ser) rs145259927
NM_001999.3(FBN2):c.2427T>A (p.Ile809=) rs139686090
NM_001999.3(FBN2):c.255-18C>A rs200300875
NM_001999.3(FBN2):c.2555-7A>G rs28763949
NM_001999.3(FBN2):c.2557A>G (p.Ile853Val) rs148598779
NM_001999.3(FBN2):c.2777C>A (p.Ala926Asp) rs138429045
NM_001999.3(FBN2):c.2801G>A (p.Arg934Gln) rs376194507
NM_001999.3(FBN2):c.3217+13G>A rs572013507
NM_001999.3(FBN2):c.3394G>A (p.Val1132Ile) rs138834515
NM_001999.3(FBN2):c.3430G>A (p.Glu1144Lys) rs200060005
NM_001999.3(FBN2):c.3762C>T (p.Asp1254=) rs2279582
NM_001999.3(FBN2):c.4141C>A (p.His1381Asn) rs78727187
NM_001999.3(FBN2):c.4298G>A (p.Arg1433His) rs143462011
NM_001999.3(FBN2):c.436+16G>A rs372098570
NM_001999.3(FBN2):c.4454A>G (p.Asp1485Gly) rs199665922
NM_001999.3(FBN2):c.4647C>T (p.Asn1549=) rs146662880
NM_001999.3(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_001999.3(FBN2):c.5353+11G>A rs572393472
NM_001999.3(FBN2):c.5353+19C>T rs183524866
NM_001999.3(FBN2):c.5496C>T (p.Arg1832=) rs35346129
NM_001999.3(FBN2):c.5549-18G>A rs371995872
NM_001999.3(FBN2):c.6982G>T (p.Ala2328Ser) rs199910288
NM_001999.3(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926
NM_001999.3(FBN2):c.728T>C (p.Ile243Thr) rs117524265
NM_001999.3(FBN2):c.738G>A (p.Ala246=) rs150087436
NM_001999.3(FBN2):c.8304C>T (p.Asn2768=) rs28763920
NM_001999.3(FBN2):c.8364+7A>T rs185052980
NM_001999.3(FBN2):c.953-8T>G rs201818403
NM_001999.3(FBN2):c.976C>T (p.Pro326Ser) rs28763954
NM_002474.2(MYH11):c.1034-12T>G rs184847335
NM_002474.2(MYH11):c.12G>A (p.Lys4=) rs112650390
NM_002474.2(MYH11):c.1512C>T (p.Ile504=) rs149630866
NM_002474.2(MYH11):c.217A>C (p.Lys73Gln) rs147447269
NM_002474.2(MYH11):c.2412-9C>A rs148682361
NM_002474.2(MYH11):c.3031T>C (p.Leu1011=) rs112861184
NM_002474.2(MYH11):c.3293+6G>A rs370658839
NM_002474.2(MYH11):c.3652-6C>T rs193922630
NM_002474.2(MYH11):c.3828G>A (p.Ala1276=) rs113154524
NM_002474.2(MYH11):c.3874G>A (p.Val1292Ile) rs151058774
NM_002474.2(MYH11):c.3928G>A (p.Val1310Met) rs7196804
NM_002474.2(MYH11):c.4240G>A (p.Ala1414Thr) rs112467954
NM_002474.2(MYH11):c.4506C>T (p.Leu1502=) rs76890940
NM_002474.2(MYH11):c.4579-14C>T rs377410503
NM_002474.2(MYH11):c.4791+4C>T rs142108062
NM_002474.2(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232
NM_002474.2(MYH11):c.5160C>T (p.Ser1720=) rs199564260
NM_002474.2(MYH11):c.5450C>T (p.Ala1817Val) rs142654744
NM_002474.2(MYH11):c.5516C>T (p.Ala1839Val) rs112948385
NM_002474.2(MYH11):c.5566C>T (p.Leu1856=) rs142639688
NM_002474.2(MYH11):c.5635G>A (p.Val1879Ile) rs138206921
NM_002474.2(MYH11):c.5800A>T (p.Thr1934Ser) rs113667224
NM_002474.2(MYH11):c.914A>G (p.Asn305Ser) rs185661462
NM_003242.5(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192
NM_003242.5(TGFBR2):c.1489C>T (p.Arg497Ter) rs863223852
NM_005902.3(SMAD3):c.207-10G>A rs201912204
NM_005902.3(SMAD3):c.401-6G>A rs745672741
NM_005902.3(SMAD3):c.607+9T>A rs886051380
NM_005902.3(SMAD3):c.860G>A (p.Arg287Gln) rs730880214
NM_006258.4(PRKG1):c.1071A>G (p.Lys357=) rs75650199
NM_006258.4(PRKG1):c.1174-7_1174-4del rs762325343
NM_006258.4(PRKG1):c.1963-16T>G rs376174664
NM_017617.5(NOTCH1):c.1669+13G>A rs147260092
NM_017617.5(NOTCH1):c.1787C>T (p.Thr596Met) rs61755997
NM_017617.5(NOTCH1):c.186G>C (p.Pro62=) rs374320445
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=) rs61751553
NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys) rs79782048
NM_017617.5(NOTCH1):c.2136C>A (p.Thr712=) rs369346436
NM_017617.5(NOTCH1):c.2206G>A (p.Gly736Arg) rs201662530
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys) rs35136134
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=) rs61751546
NM_017617.5(NOTCH1):c.3333C>T (p.Asp1111=) rs61751545
NM_017617.5(NOTCH1):c.3644-4G>A rs376161552
NM_017617.5(NOTCH1):c.3860G>A (p.Arg1287His)
NM_017617.5(NOTCH1):c.4049G>T (p.Arg1350Leu) rs150343794
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr) rs191645600
NM_017617.5(NOTCH1):c.4407C>T (p.Asn1469=) rs202231073
NM_017617.5(NOTCH1):c.4887C>T (p.His1629=) rs61751539
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=) rs568700183
NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=) rs61751538
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=) rs35980907
NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=) rs186453356
NM_017617.5(NOTCH1):c.6227C>T (p.Thr2076Ile) rs1022510242
NM_017617.5(NOTCH1):c.6291G>A (p.Pro2097=) rs201987555
NM_017617.5(NOTCH1):c.6733G>A (p.Gly2245Arg) rs201613894
NM_017617.5(NOTCH1):c.701G>A (p.Arg234His) rs150737112
NM_017617.5(NOTCH1):c.7369C>G (p.Leu2457Val) rs61755043
NM_022844.2(MYH11):c.5787-11_5787-8delCTCT rs747642850
NM_053025.3(MYLK):c.1007C>T (p.Pro336Leu) rs35912339
NM_053025.3(MYLK):c.1474G>A (p.Ala492Thr) rs143010767
NM_053025.3(MYLK):c.1609G>A (p.Val537Ile) rs199988497
NM_053025.3(MYLK):c.1968G>T (p.Trp656Cys) rs138172035
NM_053025.3(MYLK):c.2253C>T (p.Thr751=) rs138777049
NM_053025.3(MYLK):c.2693G>A (p.Arg898Gln) rs145507832
NM_053025.3(MYLK):c.3032C>T (p.Ser1011Phe) rs200423083
NM_053025.3(MYLK):c.3242A>G (p.His1081Arg) rs113491038
NM_053025.3(MYLK):c.3832-6C>T rs185681684
NM_053025.3(MYLK):c.3898G>A (p.Ala1300Thr) rs149530842
NM_053025.3(MYLK):c.5368+13_5368+21delTTCTCCAGC rs146990616
NM_053025.3(MYLK):c.5369-10T>G rs373584324
NM_053025.3(MYLK):c.593A>G (p.Asn198Ser) rs201835018
NM_053025.3(MYLK):c.619G>A (p.Val207Met) rs756560698
NM_053025.3(MYLK):c.755-12C>T rs138877679
NM_080680.2(COL11A2):c.1382G>A (p.Gly461Asp) rs141140798
NM_080680.2(COL11A2):c.1615C>T (p.Arg539Trp) rs145499142
NM_080680.2(COL11A2):c.2271C>T (p.Gly757=) rs745568808
NM_080680.2(COL11A2):c.2921C>T (p.Ala974Val) rs376797260
NM_080680.2(COL11A2):c.4521G>A (p.Gln1507=) rs114580597
NM_080680.2(COL11A2):c.5000G>A (p.Arg1667His) rs146555195
NM_080680.2(COL11A2):c.706C>T (p.Pro236Ser) rs35116188

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