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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129992585, SGCB
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
LOC129992585, SGCB
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
LOC129992585, SGCB
(Q11H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129992585, SGCB
(E10fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
LOC129992585, SGCB
(Q12fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
SGCB, LOC129992585
(Q11*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic/Likely pathogenic
LOC129992585, SGCB
(Q11E)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
LOC129992585, SGCB
(E10*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
LOC129992585, SGCB
Microsatellite
(inframe_insertion)
Autosomal recessive limb-girdle muscular dystrophy type 2E
+1 more
GUncertain significance
LOC129992585, SGCB
Microsatellite
(inframe_insertion)
not specified
+2 more
GUncertain significance
LOC129992585, SGCB
(A8fs)
Duplication
(frameshift variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy
+1 more
GPathogenic/Likely pathogenic
LOC129992585, SGCB
(A7E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129992585, SGCB
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC129992585, SGCB
Duplication
(inframe_insertion)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC129992585, SGCB
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC129992585, SGCB
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC129992585, SGCB
Deletion
(frameshift variant +1 more)
Qualitative or quantitative defects of beta-sarcoglycan
+2 more
GPathogenic/Likely pathogenic
LOC129992585, SGCB
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
LOC129992585, SGCB
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
LOC129992585, SGCB
Deletion
(5 prime UTR variant)
not specified
GBenign
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