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Links from MedGen

Items: 1 to 100 of 183

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SGCD
(Q5fs +1 more)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1L
GLikely pathogenic
SGCD
(V234M)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1L
GLikely pathogenic
SGCD
(L147fs +1 more)
Duplication
(frameshift variant)
Dilated cardiomyopathy 1L
GLikely pathogenic
SGCD
(K239fs +1 more)
Duplication
(frameshift variant)
Dilated cardiomyopathy 1L
GLikely pathogenic
SGCD
(A133fs +1 more)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1L
GLikely pathogenic
SGCD
(G75fs +1 more)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1L
GLikely pathogenic
SGCD
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1L
GUncertain significance
SGCD
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GLikely benign
SGCD
(R96* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
SGCD
(R33* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
SGCD
(I177M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
SGCD
(T253K +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2F
+1 more
GUncertain significance
SGCD
(R11W +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
SGCD
(S249F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
SGCD
(N112H +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SGCD
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1L
+2 more
GLikely benign
SGCD
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GLikely benign
SGCD
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GLikely benign
SGCD
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2F
+2 more
GLikely benign
SGCD
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GLikely benign
SGCD
(K91Q +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GUncertain significance
SGCD
(P195T +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SGCD
(K205E +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2F
+1 more
GUncertain significance
SGCD
(G170S +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SGCD
(N100H +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SGCD
(S151F +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2F
+2 more
GUncertain significance
SGCD
(T118fs +1 more)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2F
+1 more
GPathogenic
SGCD
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1L
+2 more
GUncertain significance
SGCD
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1L
+2 more
GUncertain significance
SGCD
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1L
+2 more
GUncertain significance
SGCD
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1L
+2 more
GUncertain significance
SGCD
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1L
+2 more
GUncertain significance
SGCD
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1L
+2 more
GUncertain significance
SGCD
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1L
+2 more
GUncertain significance
SGCD
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1L
+2 more
GUncertain significance
SGCD
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1L
+2 more
GUncertain significance
SGCD
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1L
+2 more
GUncertain significance
SGCD
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1L
+2 more
GUncertain significance
SGCD
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1L
+2 more
GUncertain significance
SGCD
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1L
+2 more
GUncertain significance
SGCD
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1L
+2 more
GUncertain significance
SGCD
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive limb-girdle muscular dystrophy type 2F
+2 more
GUncertain significance
SGCD
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1L
+2 more
GUncertain significance
SGCD
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1L
+2 more
GUncertain significance
SGCD
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1L
+2 more
GUncertain significance
SGCD
(P97S +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2F
+2 more
GUncertain significance
SGCD
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GLikely benign
SGCD
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2F
+2 more
GBenign/Likely benign
SGCD
(T179S +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SGCD
(H8Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
SGCD
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
SGCD
(A267T +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2F
+2 more
GUncertain significance
SGCD
(R30W +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2F
+2 more
GUncertain significance
SGCD
(A278S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
SGCD
(Q118K +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2F
+3 more
GUncertain significance
SGCD
(K120E +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SGCD
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive limb-girdle muscular dystrophy type 2F
+1 more
GLikely pathogenic
SGCD
(R198Q +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2F
+1 more
GUncertain significance
SGCD
(I114V +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
SGCD
(Q258* +1 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1L
+1 more
GUncertain significance
SGCD
(V234L)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1L
+1 more
GLikely pathogenic
SGCD
Duplication
(genic upstream transcript variant)
Dilated cardiomyopathy 1L
+1 more
GUncertain significance
SGCD
Deletion
(intron variant)
Dilated cardiomyopathy 1L
+1 more
GUncertain significance
SGCD
(K259del +1 more)
Deletion
(inframe_deletion)
Dilated cardiomyopathy 1L
+1 more
GUncertain significance
SGCD
Single nucleotide variant
(splice donor variant +1 more)
Dilated cardiomyopathy 1L
+1 more
GUncertain significance
SGCD
Single nucleotide variant
(splice donor variant)
Dilated cardiomyopathy 1L
+1 more
GUncertain significance
SGCD
(G206fs +1 more)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1L
+1 more
GLikely pathogenic
SGCD
(C221* +1 more)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy type 2F
+1 more
GConflicting classifications of pathogenicity
SGCD
Single nucleotide variant
(splice donor variant)
Dilated cardiomyopathy 1L
+1 more
GUncertain significance
SGCD
Single nucleotide variant
(splice donor variant +1 more)
Dilated cardiomyopathy 1L
+1 more
GUncertain significance
SGCD
Deletion
(genic upstream transcript variant)
Dilated cardiomyopathy 1L
+2 more
GBenign/Likely benign
SGCD
Duplication
(splice donor variant)
Dilated cardiomyopathy 1L
+1 more
GUncertain significance
SGCD
Single nucleotide variant
(splice donor variant)
Dilated cardiomyopathy 1L
+1 more
GUncertain significance
SGCD
(Y23* +1 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1L
+1 more
GLikely pathogenic
SGCD
Single nucleotide variant
(splice donor variant)
Dilated cardiomyopathy 1L
+1 more
GUncertain significance
SGCD
Microsatellite
(intron variant)
Dilated cardiomyopathy 1L
+1 more
GLikely benign
SGCD
Single nucleotide variant
(splice donor variant)
Dilated cardiomyopathy 1L
+1 more
GLikely pathogenic
SGCD
Insertion
(intron variant)
Dilated cardiomyopathy 1L
+1 more
GLikely benign
SGCD
(M1V)
Single nucleotide variant
(missense variant +2 more)
Dilated cardiomyopathy 1L
+1 more
GUncertain significance
SGCD
(R33Q +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2F
+3 more
GUncertain significance
SGCD
Single nucleotide variant
(splice acceptor variant)
Dilated cardiomyopathy 1L
+2 more
GConflicting classifications of pathogenicity
SGCD
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2F
+2 more
GLikely benign
SGCD
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2F
+3 more
GBenign
SGCD
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
SGCD
(S145C +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2F
+1 more
GUncertain significance
SGCD
(Q118H +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1L
+3 more
GUncertain significance
SGCD
(K189R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
SGCD
(P187S +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2F
+1 more
GUncertain significance
SGCD
(D153G +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SGCD
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
SGCD
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2F
+2 more
GLikely benign
SGCD
Single nucleotide variant
(intron variant)
not specified
+2 more
GLikely benign
SGCD
Single nucleotide variant
(3 prime UTR variant)
Qualitative or quantitative defects of delta-sarcoglycan
+3 more
GUncertain significance
SGCD
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1L
+3 more
GUncertain significance
SGCD
Single nucleotide variant
(3 prime UTR variant)
not provided
+4 more
GBenign/Likely benign
SGCD
Single nucleotide variant
(3 prime UTR variant)
Qualitative or quantitative defects of delta-sarcoglycan
+3 more
GUncertain significance
SGCD
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1L
+3 more
GUncertain significance
SGCD
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1L
+4 more
GBenign/Likely benign
SGCD
Single nucleotide variant
(3 prime UTR variant)
Qualitative or quantitative defects of delta-sarcoglycan
+3 more
GUncertain significance
SGCD
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive limb-girdle muscular dystrophy type 2F
+3 more
GUncertain significance
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