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Items: 1 to 100 of 1280

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr16:89805652
GRCh38:
Chr16:89739244
FANCA, ZNF276Fanconi anemia, complementation group ALikely pathogenic
(Aug 7, 2018)
criteria provided, single submitter
2.
GRCh37:
Chr14:91739805
GRCh38:
Chr14:91273461
CCDC88CHydrocephalus, Spinocerebellar ataxia 40Uncertain significance
(Aug 7, 2018)
criteria provided, single submitter
3.
GRCh37:
Chr7:128477744
GRCh38:
Chr7:128837690
FLNCMyofibrillar myopathy, filamin C-related, Myopathy, distal, 4Uncertain significance
(Aug 7, 2018)
criteria provided, single submitter
4.
GRCh37:
Chr2:26502066
GRCh38:
Chr2:26279198
HADHBMitochondrial trifunctional protein deficiencyUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
5.
GRCh37:
Chr5:141334683
GRCh38:
Chr5:141955118
PCDH12Microcephaly with spastic quadriplegiaUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr11:71819148
GRCh38:
Chr11:72108102
ANAPC15, LRTOMTDeafness, autosomal recessive 63Uncertain significance
(Aug 7, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr1:120277980
GRCh38:
Chr1:119735357
PHGDHPhosphoglycerate dehydrogenase deficiency, Neu-Laxova syndrome 1Uncertain significance
(Aug 7, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr21:34951655
GRCh38:
Chr21:33579349
DONSONMICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIESPathogenic
(Aug 7, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr10:55566572
GRCh38:
Chr10:53806812
PCDH15Deafness, autosomal recessive 23, Usher syndrome, type 1FLikely pathogenic
(Aug 7, 2018)
criteria provided, single submitter
10.
GRCh37:
ChrX:41519762
GRCh38:
ChrX:41660509
CASKnot specifiedUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr3:180705878
GRCh38:
Chr3:180988090
DNAJC193-Methylglutaconic aciduriaUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr2:198361936
GRCh38:
Chr2:197497212
HSPD1not specifiedUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr4:15565085-15565086
GRCh38:
Chr4:15563462-15563463
CC2D2ACOACH syndrome, Meckel syndrome type 6, Joubert syndrome 9
Likely pathogenic
(Aug 7, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr3:178917532
GRCh38:
Chr3:179199744
PIK3CAFamilial cancer of breast, PIK3CA related overgrowth spectrumLikely pathogenic
(Aug 7, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr1:182353660-182353662
GRCh38:
Chr1:182384525-182384527
GLULGlutamine deficiency, congenitalUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr1:228353822
GRCh38:
Chr1:228166121
IBA57not specifiedUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr1:204380515
GRCh38:
Chr1:204411387
PPP1R15BMicrocephaly, short stature, and impaired glucose metabolism 2Uncertain significance
(Aug 7, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr1:1458190
GRCh38:
Chr1:1522810
ATAD3AHarel-Yoon syndromeUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr11:9838430
GRCh38:
Chr11:9816883
SBF2Charcot-Marie-Tooth disease, type 4B2Uncertain significance
(Aug 7, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr15:40703802
GRCh38:
Chr15:40411603
IVDIsovaleryl-CoA dehydrogenase deficiencyLikely pathogenic
(Aug 7, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr20:43251643
GRCh38:
Chr20:44623002
ADAnot specifiedUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr5:131713929
GRCh38:
Chr5:132378237
SLC22A5Renal carnitine transport defectLikely pathogenic
(Aug 7, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr3:195792313
GRCh38:
Chr3:196065442
TFRCImmunodeficiency 46Pathogenic
(Aug 7, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr2:179439983
GRCh38:
Chr2:178575256
TTN, TTN-AS1Limb-girdle muscular dystrophy, type 2JPathogenic
(Aug 7, 2018)
criteria provided, single submitter
25.
GRCh37:
ChrX:66766379-66766408
GRCh38:
ChrX:67546537-67546566
ARAndrogen resistance syndromeUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
26.
GRCh37:
ChrX:24844604
GRCh38:
ChrX:24826487
POLA1Pigmentary disorder, reticulate, with systemic manifestations, X-linkedUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr7:92733252
GRCh38:
Chr7:93103939
SAMD9Mirage syndromeLikely pathogenic
(Aug 7, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr2:65245765
GRCh38:
Chr2:65018631
SLC1A4Spastic tetraplegia, thin corpus callosum, and progressive microcephalyUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr2:65245814
GRCh38:
Chr2:65018680
SLC1A4Spastic tetraplegia, thin corpus callosum, and progressive microcephalyPathogenic
(Aug 7, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr2:163128893
GRCh38:
Chr2:162272383
IFIH1Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7Uncertain significance
(Aug 7, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr2:197298183
GRCh38:
Chr2:196433459
HECW2Neurodevelopmental disorder with hypotonia, seizures, and absent languageUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr16:3779308
GRCh38:
Chr16:3729307
CREBBPRubinstein-Taybi syndromeUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr20:31024800-31024802
GRCh38:
Chr20:32436997-32436999
ASXL1C-like syndrome, Myelodysplastic syndromeUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr8:100865902
GRCh38:
Chr8:99853674
VPS13BCohen syndromeLikely pathogenic
(Aug 7, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr5:58270742
GRCh38:
Chr5:58974915
PDE4DAcrodysostosis 2, with or without hormone resistanceUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr3:57994490
GRCh38:
Chr3:58008763
FLNBBoomerang dysplasia, Larsen syndrome, dominant typeUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr17:10538727
GRCh38:
Chr17:10635410
MYH3Distal arthrogryposis type 1A, Distal arthrogryposis type 2B, Distal arthrogryposis type 8
Uncertain significance
(Aug 7, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr3:142268340
GRCh38:
Chr3:142549498
ATRSeckel syndrome, ATR-X-related syndromeUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr2:85888659
GRCh38:
Chr2:85661536
SFTPBSurfactant metabolism dysfunction, pulmonary, 1Pathogenic
(Aug 7, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr10:27456086
GRCh38:
Chr10:27167157
MASTLThrombocytopenia 2Uncertain significance
(Aug 7, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr19:7709590-7709591
GRCh38:
Chr19:7644704-7644705
STXBP2Hemophagocytic lymphohistiocytosis, familial, 5Uncertain significance
(Aug 7, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr2:202093667
GRCh38:
Chr2:201228944
CASP10Neoplasm of stomachUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr9:35079385
GRCh38:
Chr9:35079388
FANCGFanconi anemia, complementation group GUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr7:95799401
GRCh38:
Chr7:96170089
SLC25A13Citrullinemia type II, Neonatal intrahepatic cholestasis caused by citrin deficiency, not provided
Uncertain significance
(Sep 18, 2018)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
ChrX:53459299
GRCh38:
ChrX:53432351
HSD17B102-methyl-3-hydroxybutyric aciduriaUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr1:16349169
GRCh38:
Chr1:16022674
CLCNKABartter syndrome type 3, Bartter syndrome, type 4bUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr11:44286448
GRCh38:
Chr11:44264898
ALX4Frontonasal dysplasia 2Uncertain significance
(Aug 7, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr2:163163272
GRCh38:
Chr2:162306762
IFIH1Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7Likely pathogenic
(Aug 7, 2018)
criteria provided, single submitter
49.
GRCh37:
Chr12:106903226
GRCh38:
Chr12:106509448
POLR3B, LOC100287944not specifiedUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr7:5781447
GRCh38:
Chr7:5741816
RNF216Gordon Holmes syndromePathogenic
(Aug 7, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr13:24384038
GRCh38:
Chr13:23809899
MIPEPCombined oxidative phosphorylation deficiency 31Uncertain significance
(Aug 7, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr6:30893893
GRCh38:
Chr6:30926116
VARS2Combined oxidative phosphorylation deficiency 1Uncertain significance
(Aug 7, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr4:126411370
GRCh38:
Chr4:125490215
FAT4Hennekam lymphangiectasia-lymphedema syndrome, Van Maldergem syndrome 2Uncertain significance
(Aug 7, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr12:56088576
GRCh38:
Chr12:55694792
ITGA7Muscular dystrophy, congenital, due to integrin alpha-7 deficiencyLikely pathogenic
(Aug 7, 2018)
criteria provided, single submitter
55.
GRCh37:
Chr21:47805855-47805857
GRCh38:
Chr21:46385940-46385942
PCNTMicrocephalic osteodysplastic primordial dwarfism type 2Uncertain significance
(Aug 7, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr5:45267221
GRCh38:
Chr5:45267119
HCN1Epileptic encephalopathy, early infantile, 24Uncertain significance
(Aug 7, 2018)
criteria provided, single submitter
57.
GRCh37:
Chr14:64653142
GRCh38:
Chr14:64186424
SYNE2Emery-Dreifuss muscular dystrophy 5, autosomal dominantUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
58.
GRCh37:
Chr6:152755062
GRCh38:
Chr6:152433927
SYNE1Spinocerebellar ataxia, autosomal recessive 8Uncertain significance
(Aug 7, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr17:80847547
GRCh38:
Chr17:82889671
TBCDEncephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosumUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
60.
GRCh37:
Chr9:135939975
GRCh38:
Chr9:133064588
CELMaturity-onset diabetes of the young, type 8Uncertain significance
(Aug 7, 2018)
criteria provided, single submitter
61.
GRCh37:
Chr16:16302589
GRCh38:
Chr16:16208732
ABCC6not specifiedUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr20:61596504
GRCh38:
Chr20:62965152
SLC17A9Porokeratosis 8, disseminated superficial actinic typeUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr1:150485712
GRCh38:
Chr1:150513236
ECM1Lipid proteinosisPathogenic
(Aug 7, 2018)
criteria provided, single submitter
64.
GRCh37:
Chr1:153233546-153233548
GRCh38:
Chr1:153261070-153261072
LORVohwinkel syndrome, variant formUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
65.
GRCh37:
Chr1:152281328-152281330
GRCh38:
Chr1:152308852-152308854
FLGIchthyosis vulgarisUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
66.
GRCh37:
Chr5:52404358
GRCh38:
Chr5:53108528
MOCS2Molybdenum cofactor deficiency, complementation group BUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr5:52954385
GRCh38:
Chr5:53658555
NDUFS4Mitochondrial complex I deficiency, Leigh syndromeUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
68.
GRCh37:
Chr8:61777785-61777793
GRCh38:
Chr8:60865226-60865234
CHD7CHARGE associationUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
69.
GRCh37:
Chr5:90079758
GRCh38:
Chr5:90783941
ADGRV1Febrile seizures, familial, 1Uncertain significance
(Aug 7, 2018)
criteria provided, single submitter
70.
GRCh37:
Chr7:2584551-2584580
GRCh38:
Chr7:2544917-2544946
BRAT1Rigidity and multifocal seizure syndrome, lethal neonatalUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
71.
GRCh37:
Chr17:40690359-40690360
GRCh38:
Chr17:42538341-42538342
NAGLUMucopolysaccharidosis, MPS-III-BLikely pathogenic
(Aug 7, 2018)
criteria provided, single submitter
72.
GRCh37:
Chr19:12760745
GRCh38:
Chr19:12649931
MAN2B1Deficiency of alpha-mannosidaseUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
73.
GRCh37:
Chr18:21437917
GRCh38:
Chr18:23857953
LAMA3Adult junctional epidermolysis bullosaUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
74.
GRCh37:
Chr10:79762027
GRCh38:
Chr10:78002269
POLR3AHypomyelinating leukodystrophy 7Uncertain significance
(Aug 7, 2018)
criteria provided, single submitter
75.
GRCh37:
Chr8:65527685
GRCh38:
Chr8:64615128
CYP7B1Spastic paraplegia 5AUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr1:109439553
GRCh38:
Chr1:108896931
GPSM2Chudley-McCullough syndromeUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
77.
GRCh37:
Chr12:995038
GRCh38:
Chr12:885872
WNK1Hereditary sensory and autonomic neuropathy type IIA, Pseudohypoaldosteronism type 2CUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
78.
GRCh37:
Chr12:132426105
GRCh38:
Chr12:131941560
PUS1Myopathy, lactic acidosis, and sideroblastic anemia 1Likely pathogenic
(Aug 7, 2018)
criteria provided, single submitter
79.
GRCh37:
Chr12:32639070
GRCh38:
Chr12:32486136
FGD4Charcot-Marie-Tooth disease, type 4HUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
80.
GRCh37:
ChrX:49084508
GRCh38:
ChrX:49228046
CACNA1FOcular albinism, type II, Cone-rod dystrophy X-linked 3, Congenital stationary night blindness, type 2A
Uncertain significance
(Aug 7, 2018)
criteria provided, single submitter
81.
GRCh37:
Chr9:37006510
GRCh38:
Chr9:37006513
PAX5Acute lymphoid leukemiaUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
82.
GRCh37:
Chr6:76331308
GRCh38:
Chr6:75621592
SENP6not providedUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
83.
GRCh37:
Chr6:401767
GRCh38:
Chr6:401767
IRF4Skin/hair/eye pigmentation, variation in, 1Uncertain significance
(Aug 7, 2018)
criteria provided, single submitter
84.
GRCh37:
Chr9:92003588
GRCh38:
Chr9:89388673
SEMA4DAnti-SEMA4D Monoclonal Antibody VX15/2503Uncertain significance
(Aug 7, 2018)
criteria provided, single submitter
85.
GRCh37:
Chr19:50883059
GRCh38:
Chr19:50379802
NR1H2not providedUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
86.
GRCh37:
Chr17:48734486
GRCh38:
Chr17:50657125
ABCC3not providedUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
87.
GRCh37:
Chr17:4722862
GRCh38:
Chr17:4819567
PLD2not providedUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
88.
GRCh37:
Chr18:47809884
GRCh38:
Chr18:50283514
CXXC1not providedUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
89.
GRCh37:
Chr17:3495582
GRCh38:
Chr17:3592288
TRPV1not providedUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
90.
GRCh37:
Chr14:102700086-102700087
GRCh38:
Chr14:102233749-102233750
MOKMucopolysaccharidosis, MPS-III-DUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
91.
GRCh37:
Chr5:75914372
GRCh38:
Chr5:76618547
F2RL2, IQGAP2not providedUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
92.
GRCh37:
Chr13:73343000
GRCh38:
Chr13:72768862
DIS3Renal hamartomas nephroblastomatosis and fetal gigantismUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
93.
GRCh37:
Chr16:58577316
GRCh38:
Chr16:58543412
CNOT1not providedBenign
(Aug 7, 2018)
criteria provided, single submitter
94.
GRCh37:
Chr17:38556270
GRCh38:
Chr17:40400018
TOP2Anot providedUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
95.
GRCh37:
Chr17:38563079
GRCh38:
Chr17:40406827
TOP2Anot providedUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
96.
GRCh37:
Chr4:107183273-107183276
GRCh38:
Chr4:106262116-106262119
TBCKHypotonia, infantile, with psychomotor retardation and characteristic facies 3Likely pathogenic
(Aug 7, 2018)
criteria provided, single submitter
97.
GRCh37:
ChrX:66766373-66766408
GRCh38:
ChrX:67546531-67546566
ARAndrogen resistance syndrome, Hypospadias 1, X-linked, Androgen insensitivity, partial, with breast cancer
Uncertain significance
(Aug 7, 2018)
criteria provided, single submitter
98.
GRCh37:
Chr19:42383644
GRCh38:
Chr19:41879574
CD79AAgammaglobulinemia, non-Bruton typeUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
99.
GRCh37:
Chr14:61482634
GRCh38:
Chr14:61015916
SLC38A6not providedUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
100.
GRCh37:
Chr3:124560289
GRCh38:
Chr3:124841442
ITGB5not providedUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
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