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Results: 37

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:46654997
GRCh38:
Chr1:46189325
TSPAN1, POMGNT1Muscle eye brain diseaseLikely pathogenicno assertion criteria provided
2.
GRCh37:
Chr1:46655030
GRCh38:
Chr1:46189358
TSPAN1, POMGNT1Muscle eye brain diseaseLikely pathogenicno assertion criteria provided
3.
GRCh37:
Chr1:46655126-46655129
GRCh38:
Chr1:46189454-46189457
TSPAN1, POMGNT1Muscle eye brain diseaseLikely pathogenicno assertion criteria provided
4.
GRCh37:
Chr1:46655129
GRCh38:
Chr1:46189457
TSPAN1, POMGNT1Muscle eye brain diseaseLikely pathogenic
(May 2, 2014)
criteria provided, single submitter
5.
GRCh37:
Chr1:46655129
GRCh38:
Chr1:46189457
TSPAN1, POMGNT1Muscle eye brain diseaseLikely pathogenicno assertion criteria provided
6.
GRCh37:
Chr1:46655149
GRCh38:
Chr1:46189477
TSPAN1, POMGNT1Muscle eye brain diseaseLikely pathogenic
(Oct 20, 2014)
criteria provided, single submitter
7.
GRCh37:
Chr1:46655161
GRCh38:
Chr1:46189489
TSPAN1, POMGNT1Muscle eye brain diseaseLikely pathogenicno assertion criteria provided
8.
GRCh37:
Chr1:46655211
GRCh38:
Chr1:46189539
TSPAN1, POMGNT1Muscle eye brain diseaseLikely pathogenic
(Oct 10, 2014)
criteria provided, single submitter
9.
GRCh37:
Chr1:46655524
GRCh38:
Chr1:46189852
TSPAN1, POMGNT1Muscle eye brain diseaseLikely pathogenicno assertion criteria provided
10.
GRCh37:
Chr1:46655542
GRCh38:
Chr1:46189870
TSPAN1, POMGNT1Muscle eye brain diseaseLikely pathogenic
(Jan 28, 2015)
criteria provided, single submitter
11.
GRCh37:
Chr1:46655573
GRCh38:
Chr1:46189901
TSPAN1, POMGNT1Muscle eye brain diseaseLikely pathogenic
(Mar 12, 2014)
criteria provided, single submitter
12.
GRCh37:
Chr1:46655592
GRCh38:
Chr1:46189920
TSPAN1, POMGNT1Muscle eye brain disease, Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3Pathogenic/Likely pathogenic
(Oct 15, 2014)
no assertion criteria provided
13.
GRCh37:
Chr1:46656458
GRCh38:
Chr1:46190786
TSPAN1, POMGNT1Muscle eye brain diseaseLikely pathogenicno assertion criteria provided
14.
GRCh37:
Chr1:46657769
GRCh38:
Chr1:46192097
TSPAN1, POMGNT1Muscle eye brain diseaseGMAF:0.00040(T)Pathogenicno assertion criteria provided
15.
GRCh37:
Chr1:46657769
GRCh38:
Chr1:46192097
TSPAN1, POMGNT1Muscle eye brain disease, not providedGO-ESP:0.00054(T)
GMAF:0.00040(T)
Pathogenic/Likely pathogenic
(Jan 8, 2014)
criteria provided, single submitter
16.
GRCh37:
Chr1:46658039-46658043
GRCh38:
Chr1:46192367-46192371
TSPAN1, POMGNT1Muscle eye brain diseaseLikely pathogenicno assertion criteria provided
17.
GRCh37:
Chr1:46658051
GRCh38:
Chr1:46192379
TSPAN1, POMGNT1Muscle eye brain diseaseLikely pathogenicno assertion criteria provided
18.
GRCh37:
Chr1:46658074
GRCh38:
Chr1:46192402
TSPAN1, POMGNT1Muscle eye brain diseaseLikely pathogenicno assertion criteria provided
19.
GRCh37:
Chr1:46658110
GRCh38:
Chr1:46192438
TSPAN1, POMGNT1Muscle eye brain diseaseLikely pathogenicno assertion criteria provided
20.
GRCh37:
Chr1:46658200
GRCh38:
Chr1:46192528
TSPAN1, POMGNT1Muscle eye brain diseaseLikely pathogenicno assertion criteria provided
21.
GRCh37:
Chr1:46659280
GRCh38:
Chr1:46193608
TSPAN1, POMGNT1Muscle eye brain diseaseLikely pathogenic
(Jul 30, 2014)
criteria provided, single submitter
22.
GRCh37:
Chr1:46659545
GRCh38:
Chr1:46193873
TSPAN1, POMGNT1Muscle eye brain disease, Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3Pathogenic/Likely pathogenic
(Oct 15, 2014)
no assertion criteria provided
23.
GRCh37:
Chr1:46659546
GRCh38:
Chr1:46193874
TSPAN1, POMGNT1Muscle eye brain disease, not providedPathogenic/Likely pathogenic
(Jun 11, 2013)
criteria provided, single submitter
24.
GRCh37:
Chr1:46659941
GRCh38:
Chr1:46194269
TSPAN1, POMGNT1Muscle eye brain diseaseLikely pathogenicno assertion criteria provided
25.
GRCh37:
Chr1:46659941
GRCh38:
Chr1:46194269
TSPAN1, POMGNT1Muscle eye brain diseaseLikely pathogenicno assertion criteria provided
26.
GRCh37:
Chr1:46660019
GRCh38:
Chr1:46194347
TSPAN1, POMGNT1Muscle eye brain diseaseLikely pathogenicno assertion criteria provided
27.
GRCh37:
Chr1:46660031
GRCh38:
Chr1:46194359
TSPAN1, POMGNT1Muscle eye brain diseaseLikely pathogenicno assertion criteria provided
28.
GRCh37:
Chr1:46660309
GRCh38:
Chr1:46194637
TSPAN1, POMGNT1Muscle eye brain diseaseLikely pathogenicno assertion criteria provided
29.
GRCh37:
Chr1:46660515
GRCh38:
Chr1:46194843
TSPAN1, POMGNT1Muscle eye brain disease, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3Pathogenic/Likely pathogenic
(Oct 15, 2014)
no assertion criteria provided
30.
GRCh37:
Chr1:46660525
GRCh38:
Chr1:46194853
TSPAN1, POMGNT1Muscle eye brain diseaseLikely pathogenicno assertion criteria provided
31.
GRCh37:
Chr1:46660538
GRCh38:
Chr1:46194866
TSPAN1, POMGNT1Muscle eye brain diseaseLikely pathogenicno assertion criteria provided
32.
GRCh37:
Chr1:46660574
GRCh38:
Chr1:46194902
TSPAN1, POMGNT1Muscle eye brain diseaseLikely pathogenicno assertion criteria provided
33.
GRCh37:
Chr1:46660575
GRCh38:
Chr1:46194903
TSPAN1, POMGNT1Muscle eye brain diseaseLikely pathogenicno assertion criteria provided
34.
GRCh37:
Chr1:46661491
GRCh38:
Chr1:46195819
TSPAN1, POMGNT1Muscle eye brain diseaseLikely pathogenicno assertion criteria provided
35.
GRCh37:
Chr1:46661570
GRCh38:
Chr1:46195898
TSPAN1, POMGNT1Muscle eye brain diseaseLikely pathogenicno assertion criteria provided
36.
GRCh37:
Chr1:46662406
GRCh38:
Chr1:46196734
POMGNT1Muscle eye brain diseaseLikely pathogenicno assertion criteria provided
37.
GRCh37:
Chr1:46663469
GRCh38:
Chr1:46197797
POMGNT1Muscle eye brain diseaseLikely pathogenicno assertion criteria provided

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