S I D E B A R
Format
Items per page
Sort by

Download:

Choose Destination

Search results

Items: 1 to 100 of 5121

  • The following term was not found in ClinVar: Tunyasuvunakool.
VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr1:2339890
GRCh38:
Chr1:2408451
PEX10Peroxisome biogenesis disorders, Zellweger syndrome spectrum, Zellweger syndrome, not provided,
Peroxisome biogenesis disorder, complementation group 7, Peroxisome biogenesis disorder 6B, Peroxisome biogenesis disorder 6A
Pathogenic
(Jun 21, 2021)
criteria provided, multiple submitters, no conflictsVCV000006770
2.
GRCh37:
Chr1:5964821-5964822
GRCh38:
Chr1:5904761-5904762
NPHP4Y154fs, Y155fs, Y667fsNephronophthisisPathogenic
(Jul 22, 2020)
criteria provided, single submitterVCV000988262
3.
GRCh37:
Chr1:8716116
GRCh38:
Chr1:8656057
REREK81ENeurodevelopmental disorder with or without anomalies of the brain, eye, or heartUncertain significance
(Apr 25, 2019)
criteria provided, single submitterVCV000930458
4.
GRCh37:
Chr1:12008122
GRCh38:
Chr1:11948065
PLOD1Q56*, Q103*Cardiovascular phenotypePathogenic
(Apr 5, 2016)
criteria provided, single submitterVCV000520105
5.
GRCh37:
Chr1:12010513-12010532
GRCh38:
Chr1:11950456-11950475
PLOD1D135fs, D182fsCardiovascular phenotype, Ehlers-Danlos syndrome, hydroxylysine-deficient, not provided
Pathogenic
(Aug 14, 2020)
criteria provided, multiple submitters, no conflictsVCV000264119
6.
GRCh37:
Chr1:12025599
GRCh38:
Chr1:11965542
PLOD1Y511*, Y558*Cardiovascular phenotype, not provided, Ehlers-Danlos syndrome, hydroxylysine-deficient
Pathogenic
(Aug 5, 2021)
criteria provided, multiple submitters, no conflictsVCV000014370
7.
GRCh37:
Chr1:12059056
GRCh38:
Chr1:11998999
MFN2F240LCharcot-Marie-Tooth disease, type 2Likely pathogenic
(Sep 21, 2015)
criteria provided, single submitterVCV000220333
8.
GRCh37:
Chr1:12064672
GRCh38:
Chr1:12004615
MFN2Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease, type 2A2AConflicting interpretations of pathogenicity
(Jun 8, 2010)
no assertion criteria providedVCV000030735
9.
GRCh37:
Chr1:17314656
GRCh38:
Chr1:16988161
ATP13A2I946F, I941F, I902Fnot provided, History of neurodevelopmental disorder, Kufor-Rakeb syndrome,
Spastic paraplegia 78, autosomal recessive, Spastic paraplegia 78, autosomal recessive, Kufor-Rakeb syndrome
Conflicting interpretations of pathogenicity
(Jan 8, 2021)
criteria provided, conflicting interpretationsVCV000128469
10.
GRCh37:
Chr1:17345378
GRCh38:
Chr1:17018883
SDHBHereditary cancer-predisposing syndromeUncertain significance
(Oct 9, 2019)
criteria provided, single submitterVCV000822405
11.
GRCh37:
Chr1:17349150-17349151
GRCh38:
Chr1:17022655-17022656
SDHBL240fsPheochromocytoma, Gastrointestinal stroma tumor, Paragangliomas 4,
Hereditary cancer-predisposing syndrome
Pathogenic
(Jul 6, 2018)
criteria provided, multiple submitters, no conflictsVCV000412481
12.
GRCh37:
Chr1:17350467
GRCh38:
Chr1:17023972
SDHBHereditary cancer-predisposing syndromeLikely pathogenic
(May 31, 2016)
criteria provided, single submitterVCV000428921
13.
GRCh37:
Chr1:17350470
GRCh38:
Chr1:17023975
SDHBQ214*Hereditary cancer-predisposing syndrome, Pheochromocytoma, Carney-Stratakis syndrome,
Paragangliomas 4, Pheochromocytoma, Gastrointestinal stroma tumor,
Paragangliomas 4, Hereditary Paraganglioma-Pheochromocytoma Syndromes, not provided,
Paragangliomas 4
Pathogenic/Likely pathogenic
(Apr 13, 2020)
criteria provided, multiple submitters, no conflictsVCV000230243
14.
GRCh37:
Chr1:17350494-17350503
GRCh38:
Chr1:17023999-17024008
SDHBG203fsHereditary cancer-predisposing syndrome, Pheochromocytoma, Gastrointestinal stroma tumor,
Paragangliomas 4, not provided
Pathogenic
(Dec 27, 2017)
criteria provided, multiple submitters, no conflictsVCV000142653
15.
GRCh37:
Chr1:17350504-17350505
GRCh38:
Chr1:17024009-17024010
SDHBN202fsGastrointestinal stroma tumor, Paragangliomas 4, Pheochromocytoma,
Hereditary cancer-predisposing syndrome
Pathogenic
(Aug 12, 2019)
criteria provided, multiple submitters, no conflictsVCV000428922
16.
GRCh37:
Chr1:17350506-17350515
GRCh38:
Chr1:17024011-17024020
SDHBY199fsHereditary cancer-predisposing syndromePathogenic
(Dec 20, 2015)
criteria provided, single submitterVCV000428930
17.
GRCh37:
Chr1:17350510
GRCh38:
Chr1:17024015
SDHBW200CHereditary cancer-predisposing syndrome, Paragangliomas 4, Gastrointestinal stroma tumor,
Pheochromocytoma, Hereditary Paraganglioma-Pheochromocytoma Syndromes, Paragangliomas 4,
not provided
Pathogenic
(Mar 13, 2021)
criteria provided, multiple submitters, no conflictsVCV000183747
18.
GRCh37:
Chr1:17350520
GRCh38:
Chr1:17024025
SDHBP197RHereditary Paraganglioma-Pheochromocytoma Syndromes, Paragangliomas 4, Pheochromocytoma,
Gastrointestinal stroma tumor, Hereditary cancer-predisposing syndrome, Paragangliomas 4,
none provided
Pathogenic/Likely pathogenic
(May 23, 2020)
criteria provided, multiple submitters, no conflictsVCV000012779
19.
GRCh37:
Chr1:17354258
GRCh38:
Chr1:17027763
SDHBE176*Hereditary cancer-predisposing syndrome, Hereditary Paraganglioma-Pheochromocytoma SyndromesPathogenic
(Jul 3, 2014)
criteria provided, single submitterVCV000201603
20.
GRCh37:
Chr1:17354342
GRCh38:
Chr1:17027847
SDHBA148fsHereditary cancer-predisposing syndromePathogenic
(Jun 29, 2015)
criteria provided, single submitterVCV000232009
21.
GRCh37:
Chr1:17354361
GRCh38:
Chr1:17027866
SDHBGastrointestinal stroma tumor, Paragangliomas 4, Pheochromocytoma,
Hereditary cancer-predisposing syndrome
Pathogenic/Likely pathogenic
(Oct 15, 2019)
criteria provided, multiple submitters, no conflictsVCV000428931
22.
GRCh37:
Chr1:17355106
GRCh38:
Chr1:17028611
SDHBD138YParagangliomas 4, Hereditary cancer-predisposing syndromeLikely pathogenic
(Aug 10, 2021)
criteria provided, multiple submitters, no conflictsVCV000187177
23.
GRCh37:
Chr1:17355144
GRCh38:
Chr1:17028649
SDHBS125*Pheochromocytoma, Gastrointestinal stroma tumor, Paragangliomas 4,
Hereditary cancer-predisposing syndrome
Pathogenic
(Nov 20, 2019)
criteria provided, multiple submitters, no conflictsVCV000187145
24.
GRCh37:
Chr1:17359630-17359631
GRCh38:
Chr1:17033135-17033136
SDHBM71fsHereditary cancer-predisposing syndrome, not provided, Pheochromocytoma,
Gastrointestinal stroma tumor, Paragangliomas 4
Pathogenic
(Feb 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000201604
25.
GRCh37:
Chr1:17371368
GRCh38:
Chr1:17044873
SDHBHereditary Paraganglioma-Pheochromocytoma Syndromes, Paragangliomas 4, Gastrointestinal stroma tumor,
Pheochromocytoma, Hereditary cancer-predisposing syndrome
Pathogenic
(Dec 22, 2019)
criteria provided, multiple submitters, no conflictsVCV000186518
26.
GRCh37:
Chr1:17380472-17380473
GRCh38:
Chr1:17053977-17053978
SDHBHereditary cancer-predisposing syndromePathogenic
(Mar 10, 2014)
criteria provided, single submitterVCV000428926
27.
GRCh37:
Chr1:17380489
GRCh38:
Chr1:17053994
SDHBL9*Hereditary Paraganglioma-Pheochromocytoma Syndromes, Pheochromocytoma, Gastrointestinal stroma tumor,
Paragangliomas 4, Hereditary cancer-predisposing syndrome
Pathogenic
(Aug 14, 2020)
criteria provided, multiple submitters, no conflictsVCV000187527
28.
GRCh37:
Chr1:21903966
GRCh38:
Chr1:21577473
ALPLM390T, M412T, M467TAdult hypophosphatasiaUncertain significance
(Jan 8, 2020)
criteria provided, single submitterVCV000930908
29.
GRCh37:
Chr1:25890188
GRCh38:
Chr1:25563697
LDLRAP1T218Inot specified, Familial hypercholesterolemia 4Conflicting interpretations of pathogenicity
(Oct 28, 2020)
criteria provided, conflicting interpretationsVCV000520395
30.
GRCh37:
Chr1:27057894
GRCh38:
Chr1:26731403
ARID1AY534*Mental retardation, autosomal dominant 14Pathogenic
(Apr 2, 2020)
criteria provided, single submitterVCV000973289
31.
GRCh37:
Chr1:27106487-27106489
GRCh38:
Chr1:26779996-26779998
ARID1AE2036del, E1819delMental retardation, autosomal dominant 14Uncertain significance
(Mar 4, 2019)
criteria provided, single submitterVCV000930845
32.
GRCh37:
Chr1:33263388-33263389
GRCh38:
Chr1:32797787-32797788
YARS1R189fsSee casesUncertain significance
(Apr 3, 2019)
criteria provided, single submitterVCV000930432
33.
GRCh37:
Chr1:36933434
GRCh38:
Chr1:36467833
CSF3RT618IAcute myeloid leukemia, Chronic myelogenous leukemia, BCR-ABL1 positive, Neutropenia, severe congenital, 7, autosomal recessive,
Early T cell progenitor acute lymphoblastic leukemia, not provided
Conflicting interpretations of pathogenicity
(Nov 25, 2019)
criteria provided, conflicting interpretationsVCV000208339
34.
GRCh37:
Chr1:40433304
GRCh38:
Chr1:39967632
MFSD2AS339L, S352L, S300L, S183L, S224L, S337LPrimary autosomal recessive microcephaly 15Pathogenic
(Sep 11, 2020)
no assertion criteria providedVCV000372262
35.
GRCh37:
Chr1:40562882
GRCh38:
Chr1:40097210
PPT1L10*History of neurodevelopmental disorder, not provided, Neuronal ceroid lipofuscinosis 1
Pathogenic/Likely pathogenic
(Sep 30, 2020)
criteria provided, multiple submitters, no conflictsVCV000008903
36.
GRCh37:
Chr1:43394972
GRCh38:
Chr1:42929301
SLC2A1S294FHistory of neurodevelopmental disorderLikely pathogenic
(Jan 26, 2017)
criteria provided, single submitterVCV000590033
37.
GRCh37:
Chr1:45794979
GRCh38:
Chr1:45329307
MUTYHHereditary cancer-predisposing syndrome, MYH-associated polyposisUncertain significance
(May 13, 2020)
criteria provided, multiple submitters, no conflictsVCV000819745
38.
GRCh37:
Chr1:45794988
GRCh38:
Chr1:45329316
MUTYHA520fs, A544fs, A519fs, A530fs, A547fs, A427fs, A534fs, A404fsHereditary cancer-predisposing syndrome, not provided, MYH-associated polyposis
Conflicting interpretations of pathogenicity
(Sep 11, 2020)
criteria provided, conflicting interpretationsVCV000127843
39.
GRCh37:
Chr1:45795043
GRCh38:
Chr1:45329371
MUTYHL386fs, L529fs, L501fs, L512fs, L409fs, L502fs, L516fs, L526fsHereditary cancer-predisposing syndromeUncertain significance
(Jan 19, 2017)
criteria provided, single submitterVCV000483921
40.
GRCh37:
Chr1:45795077-45795078
GRCh38:
Chr1:45329405-45329406
MUTYHC397*, C504*, C514*, C489*, C517*, C374*, C490*, C500*Hereditary cancer-predisposing syndromePathogenic
(Apr 4, 2014)
criteria provided, single submitterVCV000142786
41.
GRCh37:
Chr1:45796205
GRCh38:
Chr1:45330533
MUTYHQ501*, Q358*, Q381*, Q474*, Q473*, Q484*, Q488*, Q498*Hereditary cancer-predisposing syndrome, not provided, MYH-associated polyposis
Conflicting interpretations of pathogenicity
(May 3, 2020)
criteria provided, conflicting interpretationsVCV000620207
42.
GRCh37:
Chr1:45796988-45796989
GRCh38:
Chr1:45331316-45331317
MUTYHI421fs, I432fs, I422fs, I449fs, I306fs, I329fs, I436fs, I446fsHereditary cancer-predisposing syndromeLikely pathogenic
(May 20, 2015)
criteria provided, single submitterVCV000231867
43.
GRCh37:
Chr1:45797007
GRCh38:
Chr1:45331335
MUTYHHereditary cancer-predisposing syndromeLikely pathogenic
(Sep 24, 2015)
criteria provided, single submitterVCV000234080
44.
GRCh37:
Chr1:45797118
GRCh38:
Chr1:45331446
MUTYHA405fs, A430fs, A416fs, A290fs, A313fs, A406fs, A420fs, A433fsHereditary cancer-predisposing syndromePathogenic
(May 23, 2016)
criteria provided, single submitterVCV000485896
45.
GRCh37:
Chr1:45797160
GRCh38:
Chr1:45331488
MUTYHA419T, A405T, A406T, A299T, A391T, A416T, A276T, A392T, A402Tnot specified, not provided, Hereditary cancer-predisposing syndrome,
Pilomatrixoma, Neoplasm of stomach, MYH-associated polyposis,
MYH-associated polyposis
Uncertain significance
(Oct 26, 2020)
criteria provided, multiple submitters, no conflictsVCV000135983
46.
GRCh37:
Chr1:45797191-45797201
GRCh38:
Chr1:45331519-45331529
MUTYHP285fs, P262fs, P377fs, P378fs, P402fs, P388fs, P392fs, P405fsnot provided, Hereditary cancer-predisposing syndrome, MYH-associated polyposis
Conflicting interpretations of pathogenicity
(Oct 19, 2020)
criteria provided, conflicting interpretationsVCV000216080
47.
GRCh37:
Chr1:45797394
GRCh38:
Chr1:45331722
MUTYHC375*, C347*, C348*, C362*, C232*, C358*, C372*, C255*Hereditary cancer-predisposing syndromePathogenic
(Dec 11, 2013)
criteria provided, single submitterVCV000428282
48.
GRCh37:
Chr1:45798269
GRCh38:
Chr1:45332597
MUTYHI223V, I220V, I206V, I80V, I103V, I195V, I196V, I210Vnot specified, Hereditary cancer-predisposing syndrome, not provided,
MYH-associated polyposis, Carcinoma of colon
Uncertain significance
(Nov 3, 2021)
criteria provided, multiple submitters, no conflictsVCV000127847
49.
GRCh37:
Chr1:45798434
GRCh38:
Chr1:45332762
MUTYHHereditary cancer-predisposing syndromeLikely pathogenic
(Mar 30, 2016)
criteria provided, single submitterVCV000483905
50.
GRCh37:
Chr1:45798810
GRCh38:
Chr1:45333138
MUTYHQ141*, Q113*, Q114*, Q124*, Q128*, Q21*, Q138*Hereditary cancer-predisposing syndromePathogenic
(Jun 4, 2015)
criteria provided, single submitterVCV000232217
51.
GRCh37:
Chr1:45798840
GRCh38:
Chr1:45333168
MUTYHW131R, W104R, W114R, W118R, W128R, W103R, W11RHereditary cancer-predisposing syndrome, not provided, MYH-associated polyposis
Pathogenic/Likely pathogenic
(Jun 26, 2021)
criteria provided, multiple submitters, no conflictsVCV000182688
52.
GRCh37:
Chr1:45799084
GRCh38:
Chr1:45333412
MUTYHHereditary cancer-predisposing syndromeLikely pathogenic
(Apr 14, 2020)
criteria provided, multiple submitters, no conflictsVCV000485894
53.
GRCh37:
Chr1:45799101
GRCh38:
Chr1:45333429
MUTYHL111P, L108P, L94P, L98P, L83P, L84PMYH-associated polyposis, Hereditary cancer-predisposing syndromeLikely pathogenic
(Mar 8, 2020)
criteria provided, multiple submitters, no conflictsVCV000577118
54.
GRCh37:
Chr1:45973216-45973217
GRCh38:
Chr1:45507544-45507545
MMACHCR91fs, R34fsMETHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC, Atypical hemolytic uremic syndrome, Methylmalonic acidemia with homocystinuria cblC,
Disorders of Intracellular Cobalamin Metabolism, not provided, Cobalamin C disease,
not specified
Conflicting interpretations of pathogenicity
(Nov 19, 2021)
criteria provided, conflicting interpretationsVCV000001421
55.
GRCh37:
Chr1:45973954
GRCh38:
Chr1:45508282
MMACHCL116P, L59PCobalamin C diseasePathogenic/Likely pathogenic
(Feb 17, 2017)
criteria provided, multiple submitters, no conflictsVCV000001422
56.
GRCh37:
Chr1:45974001
GRCh38:
Chr1:45508329
MMACHCR132*, R75*cblC type of combined methylmalonic aciduria and homocystinuria, not provided, Methylmalonic acidemia with homocystinuria cblC,
Cobalamin C disease, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Pathogenic
(Oct 2, 2021)
criteria provided, multiple submitters, no conflictsVCV000001423
57.
GRCh37:
Chr1:78383852-78383853
GRCh38:
Chr1:77918167-77918168
NEXNQ50fs, Q114fsCardiomyopathy, not specified, not provided
Uncertain significance
(Jul 30, 2019)
criteria provided, multiple submitters, no conflictsVCV000047905
58.
GRCh37:
Chr1:78392286
GRCh38:
Chr1:77926601
NEXNS226fs, S162fsnot specifiedUncertain significance
(Feb 8, 2012)
criteria provided, single submitterVCV000047909
59.
GRCh37:
Chr1:78399087
GRCh38:
Chr1:77933402
NEXNR392*, R328*Familial hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC, not provided,
not specified, Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1CC
Uncertain significance
(Feb 26, 2021)
criteria provided, multiple submitters, no conflictsVCV000229051
60.
GRCh37:
Chr1:78399092-78399093
GRCh38:
Chr1:77933407-77933408
NEXNE330fs, E394fsnot specifiedUncertain significance
(Jan 22, 2014)
criteria provided, single submitterVCV000179449
61.
GRCh37:
Chr1:78407843-78407844
GRCh38:
Chr1:77942158-77942159
NEXNL473fs, L537fsnot specified, not provided, Long QT syndrome
Uncertain significance
(Jul 28, 2016)
criteria provided, multiple submitters, no conflictsVCV000283614
62.
GRCh37:
Chr1:92941710
GRCh38:
Chr1:92476153
GFI1N382SSevere congenital neutropenia 2, autosomal dominant, not providedPathogenic
(Mar 1, 2018)
criteria provided, single submitterVCV000008739
63.
GRCh37:
Chr1:94473846
GRCh38:
Chr1:94008290
ABCA4P1948LRetinitis Pigmentosa, Recessive, not specified, ABCA4-Related Disorders,
Stargardt Disease, Recessive, Cone-Rod Dystrophy, Recessive, not provided,
Macular degeneration, Age-related macular degeneration 2
Conflicting interpretations of pathogenicity
(Mar 21, 2020)
criteria provided, conflicting interpretationsVCV000099413
64.
GRCh37:
Chr1:94476425
GRCh38:
Chr1:94010869
ABCA4M1882TAge-related macular degeneration 2Uncertain significance
(Dec 5, 2019)
criteria provided, single submitterVCV000931805
65.
GRCh37:
Chr1:94476467
GRCh38:
Chr1:94010911
ABCA4N1868ICone-Rod Dystrophy, Recessive, Retinitis Pigmentosa, Recessive, ABCA4-Related Disorders,
Stargardt Disease, Recessive, not specified, Retinitis pigmentosa,
not provided, Macular degeneration, Age-related macular degeneration 2,
Stargardt disease, Cone-rod dystrophy 3Stargardt disease 1,
...see more
Conflicting interpretations of pathogenicity
(Apr 1, 2021)
criteria provided, conflicting interpretationsVCV000099390
66.
GRCh37:
Chr1:94496509
GRCh38:
Chr1:94030953
ABCA4not provided, Age-related macular degeneration 2, Stargardt disease 1
Conflicting interpretations of pathogenicity
(Jan 30, 2021)
criteria provided, conflicting interpretationsVCV000099265
67.
GRCh37:
Chr1:94502844
GRCh38:
Chr1:94037288
ABCA4C1224GAge-related macular degeneration 2, ABCA4-Related Disorders, Stargardt Disease, Recessive,
Cone-Rod Dystrophy, Recessive, Retinitis Pigmentosa, Recessive, Macular degeneration
Uncertain significance
(Jun 27, 2019)
criteria provided, multiple submitters, no conflictsVCV000298247
68.
GRCh37:
Chr1:94502906
GRCh38:
Chr1:94037350
ABCA4G1203Enot provided, Cone-rod degeneration, ABCA4-Related Disorders,
Age-related macular degeneration 2
Uncertain significance
(Oct 3, 2020)
criteria provided, multiple submitters, no conflictsVCV000497057
69.
GRCh37:
Chr1:94514477
GRCh38:
Chr1:94048921
ABCA4T897ICone-Rod Dystrophy, Recessive, Retinitis Pigmentosa, Recessive, ABCA4-Related Disorders,
Stargardt Disease, Recessive, Stargardt disease 1, Macular degeneration,
not provided, Age-related macular degeneration 2
Conflicting interpretations of pathogenicity
(Nov 17, 2020)
criteria provided, conflicting interpretationsVCV000099153
70.
GRCh37:
Chr1:94548981
GRCh38:
Chr1:94083425
ABCA4D262GAge-related macular degeneration 2Uncertain significance
(Nov 15, 2018)
criteria provided, single submitterVCV000931937
71.
GRCh37:
Chr1:94564442
GRCh38:
Chr1:94098886
ABCA4R226Snot provided, Age-related macular degeneration 2, Stargardt disease 1
Conflicting interpretations of pathogenicity
(Jan 30, 2021)
criteria provided, conflicting interpretationsVCV000930839
72.
GRCh37:
Chr1:94568627
GRCh38:
Chr1:94103071
ABCA4G172SRetinal dystrophy, not provided, Stargardt disease,
Age-related macular degeneration 2, Stargardt disease 1
Conflicting interpretations of pathogenicity
(Jan 30, 2021)
criteria provided, conflicting interpretationsVCV000099347
73.
GRCh37:
Chr1:94884084
GRCh38:
Chr1:94418528
ABCD3G17Dnot specifiedUncertain significance
(Jan 1, 1999)
no assertion criteria providedVCV000013703
74.
GRCh37:
Chr1:97915614
GRCh38:
Chr1:97450058
DPYDHirschsprung disease 1, Macroglossia, Intellectual disability,
Global developmental delay, Cognitive impairment, Aggressive behavior,
Coarse facial features, Mandibular prognathia, 2-3 toe syndactyly,
Bulbous nose, Frontal bossingAutistic disorder,
Seizures, Hallux valgus, Profound global developmental delay,
Abnormal aggressive, impulsive or violent behavior, Slit-like opening of the exterior auditory meatus, Shortening of all phalanges of fingers,
Short toe, Clinodactyly of the 5th toe, Intellectual disability, profound,
Widely spaced teeth, Thick lower lip vermilion, not provided,
Dihydropyrimidine dehydrogenase deficiency, Fluorouracil response, capecitabine response - Toxicity/ADR, Metabolism/PK,
fluorouracil response - Toxicity/ADR, Metabolism/PK, Pyrimidine analogues response - Toxicity/ADR, Metabolism/PK, tegafur response - Toxicity/ADR, Metabolism/PK,
...see more
drug response
(May 14, 2018)
reviewed by expert panelVCV000000432
75.
GRCh37:
Chr1:115236057
GRCh38:
Chr1:114693436
AMPD1Q45*not provided, Muscle AMP deaminase deficiencyConflicting interpretations of pathogenicity, other
(Nov 1, 2021)
criteria provided, conflicting interpretationsVCV000018271
76.
GRCh37:
Chr1:115256529
GRCh38:
Chr1:114713908
NRASQ61RNeoplasm of the large intestine, Glioblastoma, not provided,
Chronic lymphatic leukemia, Multiple myeloma, Hepatocellular carcinoma,
Malignant neoplasm of body of uterus, Nasopharyngeal Neoplasms, Ovarian Serous Cystadenocarcinoma,
Neoplasm of brain, Transitional cell carcinoma of the bladderMelanoma,
Adrenocortical carcinoma, Adenocarcinoma of stomach, Large congenital melanocytic nevus,
Neurocutaneous melanocytosis, Epidermal nevus syndrome, Malignant melanoma of skin,
Acute myeloid leukemia, Epidermal nevus, Lung adenocarcinoma,
Non-small cell lung carcinoma, Renal cell carcinoma, papillary, 1, Thyroid cancer, nonmedullary, 2,
...see more
Pathogenic
(May 4, 2015)
criteria provided, multiple submitters, no conflictsVCV000013900
77.
GRCh37:
Chr1:151384866
GRCh38:
Chr1:151412390
POGZC500Y, C509Y, C562Y, C467Y, C553YWhite-sutton syndromeUncertain significance
(Mar 5, 2021)
criteria provided, multiple submitters, no conflictsVCV000930505
78.
GRCh37:
Chr1:152281645
GRCh38:
Chr1:152309169
FLGS1906*not specified, Ichthyosis vulgaris, not provided
Conflicting interpretations of pathogenicity
(Oct 28, 2020)
criteria provided, conflicting interpretationsVCV000225363
79.
GRCh37:
Chr1:153792201
GRCh38:
Chr1:153819725
GATAD2BR116*not provided, Mental retardation, autosomal dominant 18, GATAD2B-related intellectual disability syndrome,
GATAD2B-Related Disorder
Pathogenic
(Jan 6, 2021)
criteria provided, multiple submitters, no conflictsVCV000280408
80.
GRCh37:
Chr1:154557799
GRCh38:
Chr1:154585323
ADARD1113H, D818H, D1068H, D1087H, D792H, D1122HAicardi-Goutieres syndrome 6Pathogenic/Likely pathogenic
(Jun 27, 2013)
no assertion criteria providedVCV000039457
81.
GRCh37:
Chr1:154557801
GRCh38:
Chr1:154585325
ADARY1112F, Y817F, Y791F, Y1067F, Y1086F, Y1121FAicardi-Goutieres syndrome 6Pathogenic/Likely pathogenic
(Jun 27, 2013)
no assertion criteria providedVCV000039459
82.
GRCh37:
Chr1:154560601
GRCh38:
Chr1:154588125
ADARG1007R, G712R, G981R, G1016R, G962R, G686RAicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities, not provided,
Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities
Pathogenic/Likely pathogenic
(Aug 28, 2021)
criteria provided, multiple submitters, no conflictsVCV000039458
83.
GRCh37:
Chr1:154560623
GRCh38:
Chr1:154588147
ADARK999N, K704N, K954N, K973N, K678N, K1008NAicardi-Goutieres syndrome 6Pathogenic/Likely pathogenic
(Jun 27, 2013)
no assertion criteria providedVCV000039460
84.
GRCh37:
Chr1:154561932
GRCh38:
Chr1:154589456
ADARR892H, R597H, R847H, R901H, R571H, R866HAicardi-Goutieres syndrome 6Pathogenic/Likely pathogenic
(Jun 27, 2013)
no assertion criteria providedVCV000039455
85.
GRCh37:
Chr1:154562286
GRCh38:
Chr1:154589810
ADARI872T, I577T, I846T, I551T, I827T, I881TAicardi-Goutieres syndrome 6Pathogenic/Likely pathogenic
(Jun 27, 2013)
no assertion criteria providedVCV000039461
86.
GRCh37:
Chr1:154562293
GRCh38:
Chr1:154589817
ADARA870T, A575T, A825T, A879T, A549T, A844TAicardi-Goutieres syndrome 6Pathogenic/Likely pathogenic
(Jun 27, 2013)
no assertion criteria providedVCV000039456
87.
GRCh37:
Chr1:154574038-154574042
GRCh38:
Chr1:154601562-154601566
ADARK359fs, K64fs, K368fsAicardi-Goutieres syndrome 6Pathogenic
(Nov 1, 2012)
no assertion criteria providedVCV000039462
88.
GRCh37:
Chr1:154574541
GRCh38:
Chr1:154602065
ADARP193A, P202AAicardi Goutieres syndrome, not provided, ADAR-Related Disorders,
Inborn genetic diseases, Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6,
Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities
Conflicting interpretations of pathogenicity
(Sep 21, 2021)
criteria provided, conflicting interpretationsVCV000126395
89.
GRCh37:
Chr1:155206037
GRCh38:
Chr1:155236246
GBA, LOC106627981T408M, T359M, T321Mnot specified, not provided, Gaucher disease,
Parkinson disease, late-onset, Gaucher disease, perinatal lethal
Conflicting interpretations of pathogenicity
(May 18, 2021)
criteria provided, conflicting interpretationsVCV000093447
90.
GRCh37:
Chr1:155210463
GRCh38:
Chr1:155240672
GBAL25fsGaucher disease type IPathogenic
(Jun 15, 1993)
no assertion criteria providedVCV000004307
91.
GRCh37:
Chr1:155870348
GRCh38:
Chr1:155900557
RIT1S128C, S164C, S181CFibrous dysplasia of jawLikely benignno assertion criteria providedVCV000981607
92.
GRCh37:
Chr1:156085065
GRCh38:
Chr1:156115274
LMNAR119Pnot provided, not specifiedUncertain significance
(Feb 25, 2020)
criteria provided, multiple submitters, no conflictsVCV000048064
93.
GRCh37:
Chr1:156100566
GRCh38:
Chr1:156130775
LMNACardiovascular phenotype, not providedLikely pathogenic
(Sep 2, 2020)
criteria provided, single submitterVCV000518520
94.
GRCh37:
Chr1:156104265
GRCh38:
Chr1:156134474
LMNAN195K, N114K, N83KCharcot-Marie-Tooth disease, type 2, not provided, Primary dilated cardiomyopathy,
Dilated cardiomyopathy 1A
Pathogenic
(Jul 9, 2019)
criteria provided, multiple submitters, no conflictsVCV000014483
95.
GRCh37:
Chr1:156105806
GRCh38:
Chr1:156136015
LMNAnot provided, Charcot-Marie-Tooth disease, type 2, Cardiomyopathy
Conflicting interpretations of pathogenicity
(Nov 4, 2020)
criteria provided, conflicting interpretationsVCV000283170
96.
GRCh37:
Chr1:159175494
GRCh38:
Chr1:159205704
ACKR1R89C, R91CDUFFY BLOOD GROUP SYSTEM, FY(bwk) PHENOTYPEPathogenic
(Jun 1, 2001)
no assertion criteria providedVCV000018396
97.
GRCh37:
Chr1:160105246
GRCh38:
Chr1:160135456
ATP1A2G713VFamilial hemiplegic migraine type 2Uncertain significance
(Dec 5, 2019)
criteria provided, single submitterVCV000931798
98.
GRCh37:
Chr1:160106791
GRCh38:
Chr1:160137001
ATP1A2R937HFamilial hemiplegic migraine, Inborn genetic diseasesLikely pathogenic
(Nov 21, 2017)
criteria provided, single submitterVCV000521207
99.
GRCh37:
Chr1:161275939-161275940
GRCh38:
Chr1:161306149-161306150
MPZL202fsRoussy-Lévy syndromeUncertain significance
(Jul 2, 2019)
criteria provided, single submitterVCV000931561
100.
GRCh37:
Chr1:161277096
GRCh38:
Chr1:161307306
MPZI62MCharcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 2I, Roussy-Lévy syndrome
Uncertain significance
(Aug 27, 2019)
criteria provided, multiple submitters, no conflictsVCV000014194
Format
Items per page
Sort by

Download:

Choose Destination
Support Center