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Items: 58

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SGCD
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SGCD
(P3L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SGCD
(E5D +1 more)
Single nucleotide variant
(missense variant)
Limb-Girdle Muscular Dystrophy, Recessive
+6 more
GBenign/Likely benign
SGCD
(T8A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SGCD
(R11Q +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2F
+3 more
GUncertain significance
SGCD
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
SGCD
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SGCD
(Y22fs +1 more)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
SGCD
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1L
+3 more
GConflicting classifications of pathogenicity
SGCD
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GBenign
SGCD
(R31Q +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1L
+5 more
GConflicting classifications of pathogenicity
SGCD
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+6 more
GBenign/Likely benign
SGCD
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
SGCD
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+5 more
GBenign/Likely benign
SGCD
(I54V +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
SGCD
(I64T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
SGCD
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SGCD
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+6 more
GConflicting classifications of pathogenicity
SGCD
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SGCD
(R97Q +1 more)
Single nucleotide variant
(missense variant)
Limb-Girdle Muscular Dystrophy, Recessive
+6 more
GBenign/Likely benign
SGCD
Single nucleotide variant
(intron variant)
Limb-Girdle Muscular Dystrophy, Recessive
+6 more
GBenign/Likely benign
SGCD
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2F
+3 more
GBenign
SGCD
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SGCD
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SGCD
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SGCD
(Q118K +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2F
+3 more
GUncertain significance
SGCD
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SGCD
(K120E +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SGCD
Microsatellite
(intron variant)
not specified
+3 more
GConflicting classifications of pathogenicity
SGCD
(V132I +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1L
+3 more
GConflicting classifications of pathogenicity
SGCD
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
SGCD
(F139I +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SGCD
(L148* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
SGCD
(S151A +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
SGCD
(D153G +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SGCD
(A161T +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SGCD
(R165Q +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1L
+3 more
GUncertain significance
SGCD
Single nucleotide variant
(synonymous variant)
Limb-Girdle Muscular Dystrophy, Recessive
+7 more
GConflicting classifications of pathogenicity
SGCD
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
SGCD
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
SGCD
(K189R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
SGCD
Single nucleotide variant
(intron variant)
not provided
+2 more
GUncertain significance
SGCD
(N211S +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SGCD
(K238del)
Deletion
(inframe_deletion +1 more)
not specified
+3 more
GBenign/Likely benign
SGCD
(D239E)
Single nucleotide variant
(intron variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2F
+3 more
GConflicting classifications of pathogenicity
SGCD
(P250A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SGCD
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign/Likely benign
SGCD
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
SGCD
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
SGCD
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
SGCD
(P244L +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1L
+3 more
GUncertain significance
SGCD
(R245T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SGCD
(T252M +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1L
+2 more
GUncertain significance
SGCD
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2F
+2 more
GConflicting classifications of pathogenicity
SGCD
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SGCD
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SGCD
(V265I +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SGCD
Single nucleotide variant
(3 prime UTR variant)
not specified
+4 more
GBenign/Likely benign
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