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Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SGCD
Single nucleotide variant
(splice acceptor variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2F
+2 more
GUncertain significance
SGCD
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
SGCD
Single nucleotide variant
(splice acceptor variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SGCD
(H8Y +1 more)
Single nucleotide variant
(missense variant)
Primary familial dilated cardiomyopathy
+4 more
GUncertain significance
SGCD
(R11W +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
SGCD
(R11Q +1 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+3 more
GUncertain significance
SGCD
(I26F +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SGCD
(R31Q +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
SGCD
(R33Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SGCD
(I64T +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
SGCD
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
SGCD
(K104del +1 more)
Deletion
(inframe_deletion)
Autosomal recessive limb-girdle muscular dystrophy type 2F
+1 more
GUncertain significance
SGCD
(K104R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SGCD
(Q118H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
SGCD
(K120E +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2F
+2 more
GUncertain significance
SGCD
(S151A +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
SGCD
(S151F +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2F
+3 more
GUncertain significance
SGCD
(A161T +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1L
+2 more
GUncertain significance
SGCD
(R165* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
SGCD
(G170S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
SGCD
(V182I +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2F
+1 more
GUncertain significance
SGCD
(N211S +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2F
+2 more
GUncertain significance
SGCD
(A237S +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
(T256M +1 more)
Single nucleotide variant
(missense 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
(Q274* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
SGCD
(A278T +1 more)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of delta-sarcoglycan
+2 more
GConflicting classifications of pathogenicity
SGCD
(Q283R +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2F
+6 more
GConflicting classifications of pathogenicity
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