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Did you mean TG as a gene symbol? Search ClinVar for TG

See TG thyroglobulin in the Gene database

Search results

Items: 1 to 100 of 2049

  • The following term was not found in ClinVar: Thr270Thr.
VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr1:1278245-1278246
GRCh38:
Chr1:1342865-1342866
DVL1not providedLikely benign
(Oct 18, 2020)
no assertion criteria providedVCV001217551
2.
GRCh37:
Chr1:2340200-2340201
GRCh38:
Chr1:2408761-2408762
PEX10T97Mnot providedUncertain significance
(Sep 9, 2016)
criteria provided, single submitterVCV000291010
3.
GRCh37:
Chr1:7724521-7724522
GRCh38:
Chr1:7664461-7664462
CAMTA1G610fs, G640fsnot providedPathogenic
(Aug 13, 2019)
criteria provided, single submitterVCV000937955
4.
GRCh37:
Chr1:11301713-11301714
GRCh38:
Chr1:11241656-11241657
MTORA480Tnot providedUncertain significance
(Jul 30, 2019)
criteria provided, single submitterVCV000934118
5.
GRCh37:
Chr1:11347155-11347156
GRCh38:
Chr1:11287098-11287099
UBIAD1Schnyder crystalline corneal dystrophyBenign
(Jun 14, 2016)
criteria provided, single submitterVCV000291887
6.
GRCh37:
Chr1:11865994-11866000
GRCh38:
Chr1:11805937-11805943
MTHFRNeural tube defects, folate-sensitiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000292248
7.
GRCh37:
Chr1:12057356-12057357
GRCh38:
Chr1:11997299-11997300
MFN2V160fsCharcot-Marie-Tooth diseaseUncertain significanceno assertion criteria providedVCV000637312
8.
GRCh37:
Chr1:12378312-12378313
GRCh38:
Chr1:12318255-12318256
VPS13DV2445fsAutosomal recessive cerebellar ataxia-saccadic intrusion syndromePathogenic
(Sep 17, 2018)
no assertion criteria providedVCV000561202
9.
GRCh37:
Chr1:15788135
GRCh38:
Chr1:15461640
CELA2AT70MDiabetes, Hypertensive disorder, Coronary artery disease,
Hypertriglyceridemia
Pathogenic
(Jan 1, 2017)
no assertion criteria providedVCV000633595
10.
GRCh37:
Chr1:15789253
GRCh38:
Chr1:15462758
CELA2AL85MFamilial partial lipodystrophy 6, Diabetes, Hypertensive disorder,
Coronary artery disease, Hypertriglyceridemia
Pathogenic
(Oct 10, 2019)
no assertion criteria providedVCV000633593
11.
GRCh37:
Chr1:15789885
GRCh38:
Chr1:15463390
CELA2AD121NFamilial partial lipodystrophy 6, Diabetes, Hypertensive disorder,
Coronary artery disease, Hypertriglyceridemia
Pathogenic
(Oct 10, 2019)
no assertion criteria providedVCV000633592
12.
GRCh37:
Chr1:15792640
GRCh38:
Chr1:15466145
CELA2AFamilial partial lipodystrophy 6, Diabetes, Hypertensive disorder,
Coronary artery disease, Hypertriglyceridemia
Pathogenic
(Oct 11, 2019)
no assertion criteria providedVCV000633594
13.
GRCh37:
Chr1:16270668-16270683
GRCh38:
Chr1:15944173-15944188
ZBTB17not providedBenign
(May 26, 2021)
criteria provided, single submitterVCV001262168
14.
GRCh37:
Chr1:17349124
GRCh38:
Chr1:17022629
SDHBN248KPheochromocytoma, Paragangliomas 4, Gastrointestinal stromal tumor,
Hereditary cancer-predisposing syndrome
Conflicting interpretations of pathogenicity
(Feb 14, 2019)
criteria provided, conflicting interpretationsVCV000428929
15.
GRCh37:
Chr1:17350489-17350490
GRCh38:
Chr1:17023994-17023995
SDHBL207fsGastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma
Pathogenic
(Jul 2, 2016)
criteria provided, single submitterVCV000412454
16.
GRCh37:
Chr1:17380512
GRCh38:
Chr1:17054017
SDHBM1IParagangliomas 4, Hereditary cancer-predisposing syndrome, Pheochromocytoma,
Gastrointestinal stromal tumor, Paragangliomas 4
Pathogenic/Likely pathogenic
(Aug 24, 2017)
criteria provided, multiple submitters, no conflictsVCV000428932
17.
GRCh37:
Chr1:22161882-22161883
GRCh38:
Chr1:21835389-21835390
HSPG2not providedLikely benign
(Sep 11, 2018)
criteria provided, single submitterVCV001193744
18.
GRCh37:
Chr1:22214126-22214127
GRCh38:
Chr1:21887633-21887634
HSPG2V249Mnot specifiedUncertain significance
(Jan 30, 2017)
criteria provided, single submitterVCV000559385
19.
GRCh37:
Chr1:22447645-22447646
GRCh38:
Chr1:22121152-22121153
WNT4not providedBenign
(Jun 19, 2021)
criteria provided, single submitterVCV001260134
20.
GRCh37:
Chr1:25890188-25890189
GRCh38:
Chr1:25563697-25563698
LDLRAP1T218Mnot specified, not provided, Familial hypercholesterolemia 4
Benign/Likely benign
(Feb 8, 2021)
criteria provided, multiple submitters, no conflictsVCV000468289
21.
GRCh37:
Chr1:25894468-25894469
GRCh38:
Chr1:25567977-25567978
LDLRAP1Familial hypercholesterolemia 1Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000297006
22.
GRCh37:
Chr1:26135630-26135631
GRCh38:
Chr1:25809139-25809140
SELENONV254fs, V288fsEichsfeld type congenital muscular dystrophyPathogenic
(Jun 17, 2019)
criteria provided, single submitterVCV000944327
23.
GRCh37:
Chr1:27875441-27875442
GRCh38:
Chr1:27548930-27548931
AHDC1T1062fsXia-Gibbs syndromePathogenic
(Sep 27, 2019)
criteria provided, single submitterVCV000981198
24.
GRCh37:
Chr1:27875548-27875549
GRCh38:
Chr1:27549037-27549038
AHDC1G1027fsIntellectual disabilityLikely pathogenic
(Dec 1, 2018)
no assertion criteria providedVCV000973126
25.
GRCh37:
Chr1:27877280-27877281
GRCh38:
Chr1:27550769-27550770
AHDC1P449fsnot providedPathogenic
(Jul 20, 2020)
criteria provided, single submitterVCV001068817
26.
GRCh37:
Chr1:33241274-33241275
GRCh38:
Chr1:32775673-32775674
YARS1Charcot-Marie-Tooth, IntermediateLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000297143
27.
GRCh37:
Chr1:36563918-36563919
GRCh38:
Chr1:36098317-36098318
COL8A2Q455V, Q390VCorneal dystrophy, Fuchs endothelial 1Pathogenic
(Apr 1, 2009)
no assertion criteria providedVCV000167868
28.
GRCh37:
Chr1:40539203-40539204
GRCh38:
Chr1:40073531-40073532
PPT1Neuronal ceroid lipofuscinosis 1Uncertain significance
(Mar 7, 2017)
criteria provided, single submitterVCV000551002
29.
GRCh37:
Chr1:40557789-40557790
GRCh38:
Chr1:40092117-40092118
PPT1Q97fsNeuronal ceroid lipofuscinosis 1Pathogenic
(Dec 3, 2019)
criteria provided, single submitterVCV000856480
30.
GRCh37:
Chr1:40773149-40773150
GRCh38:
Chr1:40307477-40307478
COL9A2Q326WIntervertebral disc disease, susceptibility to, not providedBenign
(Dec 2, 2020)
criteria provided, multiple submitters, no conflictsVCV000017145
31.
GRCh37:
Chr1:43396402-43396403
GRCh38:
Chr1:42930731-42930732
SLC2A1T137fsnot providedPathogenic
(Jul 1, 2019)
criteria provided, single submitterVCV000806117
32.
GRCh37:
Chr1:43815008-43815009
GRCh38:
Chr1:43349337-43349338
MPLW515KMyelofibrosis with myeloid metaplasiaPathogenic
(Nov 15, 2006)
no assertion criteria providedVCV000014165
33.
GRCh37:
Chr1:45796204-45796205
GRCh38:
Chr1:45330532-45330533
MUTYHQ358G, Q473G, Q501G, Q474G, Q484G, Q488G, Q381G, Q498GHereditary cancer-predisposing syndromeUncertain significance
(Apr 1, 2019)
criteria provided, single submitterVCV000819380
34.
GRCh37:
Chr1:45798770-45798771
GRCh38:
Chr1:45333098-45333099
MUTYHQ126fs, Q127fs, Q137fs, Q141fs, Q151fs, Q154fs, Q34fsMYH-associated polyposisPathogenic
(Apr 30, 2020)
criteria provided, single submitterVCV001076845
35.
GRCh37:
Chr1:45974662-45974663
GRCh38:
Chr1:45508990-45508991
MMACHCV209fs, V152fsCobalamin C diseaseLikely pathogenic
(Oct 6, 2017)
criteria provided, single submitterVCV000550046
36.
GRCh37:
Chr1:46658264-46658265
GRCh38:
Chr1:46192592-46192593
TSPAN1, POMGNT1not provided, Limb-girdle muscular dystrophy-dystroglycanopathy, type C3, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3
Likely pathogenic
(Jul 3, 2020)
criteria provided, multiple submitters, no conflictsVCV000424898
37.
GRCh37:
Chr1:53679228-53679229
GRCh38:
Chr1:53213556-53213557
CPT2M624V, M647VCarnitine palmitoyltransferase II deficiencyLikely benign
(Nov 26, 2020)
criteria provided, single submitterVCV000724827
38.
GRCh37:
Chr1:55505552-55505553
GRCh38:
Chr1:55039879-55039880
PCSK9L15fsFamilial hypercholesterolemia 1Pathogenic
(Mar 1, 2016)
criteria provided, single submitterVCV000431555
39.
GRCh37:
Chr1:55505553-55505554
GRCh38:
Chr1:55039880-55039881
PCSK9Familial hypercholesterolemiaUncertain significance
(Sep 24, 2018)
criteria provided, single submitterVCV000628057
40.
GRCh37:
Chr1:55524195-55524197
GRCh38:
Chr1:55058522-55058524
PCSK9V460fsFamilial hypercholesterolemiaLikely benign
(May 22, 2019)
criteria provided, single submitterVCV000926999
41.
GRCh37:
Chr1:63063291
GRCh38:
Chr1:62597620
ANGPTL3, DOCK7I19fsHypobetalipoproteinemia, familial, 2Pathogenic
(Feb 1, 2012)
no assertion criteria providedVCV000091864
42.
GRCh37:
Chr1:63069907
GRCh38:
Chr1:62604236
ANGPTL3, DOCK7Hypobetalipoproteinemia, familial, 2Pathogenic
(Feb 1, 2012)
no assertion criteria providedVCV000091863
43.
GRCh37:
Chr1:67516190
GRCh38:
Chr1:67050507
SLC35D1not specified, not provided, Schneckenbecken dysplasia
Benign
(Nov 23, 2020)
criteria provided, multiple submitters, no conflictsVCV000197826
44.
GRCh37:
Chr1:68910268-68910269
GRCh38:
Chr1:68444585-68444586
RPE65T147fsLeber congenital amaurosis 2, Retinitis pigmentosa 20, Leber congenital amaurosis 2
Pathogenic
(Jan 15, 2020)
criteria provided, single submitterVCV000973965
45.
GRCh37:
Chr1:94463533-94463540
GRCh38:
Chr1:93997977-93997984
ABCA4Y2203fsnot providedPathogenic
(Sep 24, 2020)
criteria provided, single submitterVCV001074085
46.
GRCh37:
Chr1:94466658-94466659
GRCh38:
Chr1:94001102-94001103
ABCA4E2096Knot provided, Retinal dystrophyPathogenic/Likely pathogenic
(Sep 9, 2020)
criteria provided, multiple submitters, no conflictsVCV000843110
47.
GRCh37:
Chr1:94466663-94466664
GRCh38:
Chr1:94001107-94001108
ABCA4Stargardt disease 1Pathogenic
(Jan 1, 2016)
criteria provided, single submitterVCV000236146
48.
GRCh37:
Chr1:94467487-94467488
GRCh38:
Chr1:94001931-94001932
ABCA4T2070QRetinal dystrophyUncertain significance
(Jun 25, 2019)
criteria provided, single submitterVCV000867176
49.
GRCh37:
Chr1:94473243-94473244
GRCh38:
Chr1:94007687-94007688
ABCA4M1984Tnot providednot providedno assertion providedVCV000099423
50.
GRCh37:
Chr1:94473845-94473846
GRCh38:
Chr1:94008289-94008290
ABCA4P1948Lnot providedBenign/Likely benign
(Dec 2, 2020)
criteria provided, multiple submitters, no conflictsVCV001152327
51.
GRCh37:
Chr1:94485196-94485197
GRCh38:
Chr1:94019640-94019641
ABCA4Q1713Rnot provided, Cone-rod dystrophy 3, Retinal dystrophy
Likely pathogenic
(May 18, 2018)
criteria provided, single submitterVCV000866082
52.
GRCh37:
Chr1:94544234-94544235
GRCh38:
Chr1:94078678-94078679
ABCA4H423Cnot providedUncertain significance
(Oct 3, 2020)
criteria provided, single submitterVCV000941627
53.
GRCh37:
Chr1:109440625-109440626
GRCh38:
Chr1:108898003-108898004
GPSM2A154fsRare genetic deafnessLikely pathogenic
(May 9, 2019)
criteria provided, single submitterVCV000180034
54.
GRCh37:
Chr1:111661528-111661529
GRCh38:
Chr1:111118906-111118907
DRAM2not providedLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV001139505
55.
GRCh37:
Chr1:113498817-113498820
GRCh38:
Chr1:112956195-112956198
SLC16A1Hyperinsulinism, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000291914
56.
GRCh37:
Chr1:115256529-115256530
GRCh38:
Chr1:114713908-114713909
NRASQ61RMelanomaLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376220
57.
GRCh37:
Chr1:116269619-116269620
GRCh38:
Chr1:115726998-115726999
CASQ2H244CVentricular tachycardia, catecholaminergic polymorphic, 2, Catecholaminergic polymorphic ventricular tachycardiaConflicting interpretations of pathogenicity
(Nov 25, 2020)
criteria provided, conflicting interpretationsVCV000238671
58.
GRCh37:
Chr1:150459894-150459897
GRCh38:
Chr1:150487418-150487421
TARS2not specified, not providedBenign
(Jan 30, 2017)
criteria provided, single submitterVCV000517079
59.
GRCh37:
Chr1:150771703-150771704
GRCh38:
Chr1:150799227-150799228
CTSKA277Vnot providedBenign
(Sep 20, 2020)
criteria provided, single submitterVCV001166410
60.
GRCh37:
Chr1:151379411-151379412
GRCh38:
Chr1:151406935-151406936
POGZH745fs, H831fs, H787fs, H840fs, H778fsnot providedPathogenic
(Oct 11, 2017)
criteria provided, single submitterVCV000280908
61.
GRCh37:
Chr1:152277544-152277547
GRCh38:
Chr1:152305068-152305071
FLGR3272fsnot providedPathogenic
(Aug 22, 2018)
criteria provided, single submitterVCV000817211
62.
GRCh37:
Chr1:154422067-154422068
GRCh38:
Chr1:154449591-154449592
IL6Rnot providedLikely benign
(Nov 23, 2020)
criteria provided, single submitterVCV001094936
63.
GRCh37:
Chr1:155260349-155260350
GRCh38:
Chr1:155290558-155290559
PKLRnot providedUncertain significance
(Jan 25, 2020)
criteria provided, single submitterVCV001162852
64.
GRCh37:
Chr1:156104235-156104236
GRCh38:
Chr1:156134444-156134445
LMNAD185fs, D73fs, D104fsPrimary dilated cardiomyopathyLikely pathogenicno assertion criteria providedVCV000637016
65.
GRCh37:
Chr1:156106109-156106110
GRCh38:
Chr1:156136318-156136319
LMNAL309fs, L421fs, L340fsnot providedLikely pathogenic
(Mar 23, 2018)
criteria provided, single submitterVCV000636601
66.
GRCh37:
Chr1:156830933-156830934
GRCh38:
Chr1:156861141-156861142
NTRK1E70fsHereditary insensitivity to pain with anhidrosisPathogenic
(Mar 1, 2009)
no assertion criteria providedVCV000029920
67.
GRCh37:
Chr1:161192846-161192855
GRCh38:
Chr1:161223056-161223065
APOA2not specifiedBenign
(Aug 13, 2019)
criteria provided, single submitterVCV000929172
68.
GRCh37:
Chr1:161284211-161284212
GRCh38:
Chr1:161314421-161314422
SDHCR7*, S7*not providedPathogenic
(Oct 19, 2017)
criteria provided, single submitterVCV000546054
69.
GRCh37:
Chr1:161284226-161284227
GRCh38:
Chr1:161314436-161314437
SDHCnot specified, not providedBenign
(Mar 8, 2019)
criteria provided, single submitterVCV000811691
70.
GRCh37:
Chr1:167408591-167408592
GRCh38:
Chr1:167439354-167439355
CD247Q70WImmunodeficiency due to defect in cd3-zetaPathogenic
(May 4, 2006)
no assertion criteria providedVCV000012750
71.
GRCh37:
Chr1:171077324-171077325
GRCh38:
Chr1:171108183-171108184
FMO3TrimethylaminuriaPathogenic
(Mar 18, 2016)
criteria provided, single submitterVCV000225364
72.
GRCh37:
Chr1:181687245-181687246
GRCh38:
Chr1:181718109-181718110
CACNA1EM527KDevelopmental and epileptic encephalopathy, 69Uncertain significance
(Jan 22, 2019)
criteria provided, single submitterVCV000690291
73.
GRCh37:
Chr1:197297680-197297681
GRCh38:
Chr1:197328550-197328551
CRB1Retinal dystrophyLikely pathogenic
(Aug 2, 2019)
criteria provided, single submitterVCV000867214
74.
GRCh37:
Chr1:197313419-197313420
GRCh38:
Chr1:197344289-197344290
CRB1Leber congenital amaurosis 8, Retinitis pigmentosa 12Pathogenic
(Apr 21, 2020)
criteria provided, single submitterVCV000844387
75.
GRCh37:
Chr1:197404453-197404454
GRCh38:
Chr1:197435323-197435324
CRB1Leber congenital amaurosis 8, Leber congenital amaurosis 1Pathogenic
(May 28, 2019)
criteria provided, single submitterVCV000801600
76.
GRCh37:
Chr1:197404513-197404514
GRCh38:
Chr1:197435383-197435384
CRB1Retinal dystrophyLikely pathogenic
(May 15, 2018)
criteria provided, single submitterVCV000866950
77.
GRCh37:
Chr1:201012583-201012586
GRCh38:
Chr1:201043455-201043458
CACNA1SN1624fsHypokalemic periodic paralysis 1, Malignant hyperthermia, susceptibility to, 5Pathogenic
(Dec 17, 2019)
criteria provided, single submitterVCV000665842
78.
GRCh37:
Chr1:201020104-201020105
GRCh38:
Chr1:201050976-201050977
CACNA1SMalignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis 1Likely benign
(Sep 29, 2020)
criteria provided, single submitterVCV001157217
79.
GRCh37:
Chr1:204159537-204159538
GRCh38:
Chr1:204190409-204190410
KISS1not providedBenign
(Jun 19, 2018)
criteria provided, single submitterVCV001258690
80.
GRCh37:
Chr1:209791937-209791938
GRCh38:
Chr1:209618592-209618593
LAMB3T923fsnot providedPathogenic
(Jan 25, 2018)
criteria provided, single submitterVCV000595836
81.
GRCh37:
Chr1:209800847-209800848
GRCh38:
Chr1:209627502-209627503
LAMB3N456fsnot provided, Junctional epidermolysis bullosa, non-Herlitz type, Junctional epidermolysis bullosa gravis of Herlitz
Pathogenic/Likely pathogenic
(Jan 30, 2020)
criteria provided, multiple submitters, no conflictsVCV000189004
82.
GRCh37:
Chr1:209811951-209811952
GRCh38:
Chr1:209638606-209638607
LAMB3H75fsJunctional epidermolysis bullosa, Junctional epidermolysis bullosa gravis of Herlitz, not provided
Conflicting interpretations of pathogenicity
(Jun 16, 2019)
criteria provided, conflicting interpretationsVCV000295145
83.
GRCh37:
Chr1:209961545-209961546
GRCh38:
Chr1:209788200-209788201
IRF6Cleft Lip +/- Cleft Palate, Autosomal Dominant, Popliteal pterygium syndrome, van der Woude syndrome 1
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000295204
84.
GRCh37:
Chr1:213061839-213061842
GRCh38:
Chr1:212888497-212888500
FLVCR1T440fsRetinitis pigmentosa, not providedPathogenic/Likely pathogenic
(Oct 23, 2020)
criteria provided, multiple submitters, no conflictsVCV000806346
85.
GRCh37:
Chr1:214819284-214819285
GRCh38:
Chr1:214645941-214645942
CENPFL2124fsnot providedLikely pathogenic
(Nov 30, 2017)
criteria provided, single submitterVCV000503851
86.
GRCh37:
Chr1:215901713-215901714
GRCh38:
Chr1:215728371-215728372
USH2Anot providedPathogenic
(Jul 1, 2019)
criteria provided, single submitterVCV000937820
87.
GRCh37:
Chr1:216405304-216405305
GRCh38:
Chr1:216231962-216231963
USH2A, USH2A-AS1Q995fsRetinal dystrophyLikely pathogenic
(Apr 3, 2019)
criteria provided, single submitterVCV000867126
88.
GRCh37:
Chr1:218609316-218609317
GRCh38:
Chr1:218435974-218435975
TGFB2D254Y, D282YHolt-Oram syndromeUncertain significance
(Dec 27, 2017)
criteria provided, single submitterVCV000528886
89.
GRCh37:
Chr1:237817724-237817725
GRCh38:
Chr1:237654424-237654425
RYR2not specifiedLikely benign
(Nov 7, 2016)
criteria provided, single submitterVCV000422672
90.
GRCh37:
Chr1:237863717-237863718
GRCh38:
Chr1:237700417-237700418
RYR2S3106LCatecholaminergic polymorphic ventricular tachycardia, CardiomyopathyUncertain significance
(Sep 16, 2019)
criteria provided, multiple submitters, no conflictsVCV000928334
91.
GRCh37:
Chr1:241675268-241675269
GRCh38:
Chr1:241511968-241511969
FHQ185fsFumarase deficiency, not provided, Hereditary leiomyomatosis and renal cell cancer,
Hereditary cancer-predisposing syndrome
Pathogenic
(Oct 21, 2020)
criteria provided, multiple submitters, no conflictsVCV000393565
92.
GRCh37:
Chr1:241680472-241680481
GRCh38:
Chr1:241517172-241517181
FHHereditary leiomyomatosis and renal cell cancerPathogenic
(Jan 17, 2017)
criteria provided, single submitterVCV000393559
93.
GRCh37:
Chr1:245018776-245018779
GRCh38:
Chr1:244855474-244855477
HNRNPUN748fs, N767fsInborn genetic diseases, heterogeneous nuclear ribonucleoprotein G, humanConflicting interpretations of pathogenicity
(Apr 19, 2017)
criteria provided, conflicting interpretationsVCV000241620
94.
GRCh37:
Chr2:16085667-16085668
GRCh38:
Chr2:15945545-15945546
MYCNV282fs, V71fsFeingold syndrome 1Likely pathogenic
(Jun 25, 2019)
no assertion criteria providedVCV000829866
95.
GRCh37:
Chr2:16085724-16085725
GRCh38:
Chr2:15945602-15945603
MYCNV301fs, V90fsFeingold syndrome 1Pathogenic
(Jun 5, 2015)
criteria provided, single submitterVCV000433154
96.
GRCh37:
Chr2:21224656-21224657
GRCh38:
Chr2:21001784-21001785
APOB, APOB3'MART4546fsAPOB-Related DisordersUncertain significance
(Oct 31, 2018)
criteria provided, single submitterVCV000631843
97.
GRCh37:
Chr2:21232803-21232804
GRCh38:
Chr2:21009931-21009932
APOBI2313VFamilial hypercholesterolemia, Familial hypercholesterolemia 1, Familial hypobetalipoproteinemia,
Hypobetalipoproteinemia, familial, 1, Familial hypercholesterolemia 2, not specified
Benign/Likely benign
(Dec 6, 2020)
criteria provided, multiple submitters, no conflictsVCV000128424
98.
GRCh37:
Chr2:26647276-26647277
GRCh38:
Chr2:26424408-26424409
DRC1A165VPrimary ciliary dyskinesiaUncertain significance
(May 8, 2019)
criteria provided, single submitterVCV000656581
99.
GRCh37:
Chr2:26667129-26667130
GRCh38:
Chr2:26444261-26444262
DRC1K357EPrimary ciliary dyskinesiaUncertain significance
(Mar 9, 2018)
criteria provided, single submitterVCV000567551
100.
GRCh37:
Chr2:27290524-27290525
GRCh38:
Chr2:27067656-27067657
AGBL5not providedLikely benign
(Dec 2, 2019)
criteria provided, single submitterVCV001161209
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