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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SGCB
(G315R)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
SGCB
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
SGCB
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2E
+1 more
GLikely benign
SGCB
(I144T)
Single nucleotide variant
(missense variant)
SGCB-related disorder
GUncertain significance
SGCB
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
SGCB
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2E
+3 more
GConflicting classifications of pathogenicity
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