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Items: 1 to 100 of 756

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PSMG3, PSMG3-AS1
+904 more
Copy number gain
See cases
GPathogenic
LOC129997989, LOC129997990
+823 more
Copy number gain
See cases
GPathogenic
LOC110120728, LOC110120749
+879 more
Copy number gain
See cases
GPathogenic
CCDC146, CCDC201
+4735 more
Copy number loss
See cases
GPathogenic
ABCB5, ACTB
+1148 more
Copy number gain
See cases
GPathogenic
LOC126860013, LOC126860014
+1298 more
Copy number gain
See cases
GPathogenic
ABCB5, ACTB
+769 more
Copy number gain
See cases
GPathogenic
LOC129997985, LOC129997986
+560 more
Copy number gain
See cases
GPathogenic
AGMO, AGR2
+130 more
Copy number loss
See cases
GPathogenic
LOC123924901, LOC123924902
+331 more
Copy number loss
See cases
GPathogenic
AGMO, ARL4A
+62 more
Copy number loss
See cases
GPathogenic
AGMO, AGR2
+59 more
Copy number loss
See cases
GPathogenic
AGMO, AGR2
+23 more
Copy number loss
See cases
GPathogenic
AGMO, AGR2
+67 more
Copy number loss
See cases
GPathogenic
LOC129998080, LOC129998081
+248 more
Copy number loss
See cases
GPathogenic
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GBenign
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Deletion
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GBenign
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GLikely benign
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GLikely benign
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Duplication
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Deletion
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GBenign
CRPPA
Indel
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GLikely benign
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GBenign
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GLikely benign
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GLikely benign
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GBenign
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Microsatellite
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GLikely benign
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GBenign
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GLikely benign
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Microsatellite
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Insertion
(3 prime UTR variant +1 more)
not provided
GLikely benign
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Deletion
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GLikely benign
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GBenign
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GLikely benign
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GBenign
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GBenign
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GBenign
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GBenign
CRPPA
Duplication
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GBenign
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
CRPPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
GUncertain significance
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