U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 80

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SGCG
Single nucleotide variant
(5 prime UTR variant +1 more)
SGCG-related condition
+4 more
GConflicting classifications of pathogenicity
SGCG
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SGCG
(R3C +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2C
+1 more
GUncertain significance
SGCG
(R3H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SGCG
(Y6C +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SGCG
(G12S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SGCG
(N20D +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SGCG
(I26T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SGCG
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
SGCG
(V40L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SGCG
(V48I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SGCG
(L53F +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2C
+1 more
GUncertain significance
SGCG
(L53P +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SGCG
(T54R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SGCG
(T54K +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SGCG
(M61L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SGCG
(S64P +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2C
+1 more
GUncertain significance
SGCG
Microsatellite
(splice donor variant)
Autosomal recessive limb-girdle muscular dystrophy type 2C
+1 more
GPathogenic
SGCG
Single nucleotide variant
(splice donor variant)
Autosomal recessive limb-girdle muscular dystrophy type 2C
+2 more
GPathogenic/Likely pathogenic
SGCG
Duplication
(intron variant)
not specified
+1 more
GBenign
SGCG
Deletion
(intron variant)
not specified
+1 more
GBenign
SGCG
Deletion
(intron variant)
not specified
+2 more
GBenign/Likely benign
SGCG
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2C
+1 more
GConflicting classifications of pathogenicity
SGCG
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2C
+1 more
GUncertain significance
SGCG
(L78fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
SGCG
Single nucleotide variant
(synonymous variant)
Sarcoglycanopathy
+4 more
GBenign/Likely benign
SGCG
(G77A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SGCG
(L78P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SGCG
(R79C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SGCG
(R79H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SGCG
(S84T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SGCG
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2C
+2 more
GConflicting classifications of pathogenicity
SGCG
(A92D +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SGCG
(S101L +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2C
+1 more
GUncertain significance
SGCG
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2C
+1 more
GConflicting classifications of pathogenicity
SGCG
Single nucleotide variant
(synonymous variant)
Sarcoglycanopathy
+4 more
GBenign
SGCG
(Q109R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SGCG
(R116H +1 more)
Single nucleotide variant
(missense variant)
Sarcoglycanopathy
+3 more
GBenign/Likely benign
SGCG
(S118P +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SGCG
(G129S +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SGCG
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
SGCG
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive limb-girdle muscular dystrophy type 2C
+2 more
GPathogenic/Likely pathogenic
SGCG
(Q136R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SGCG
(N137K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SGCG
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SGCG
(D146N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SGCG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SGCG
Deletion
(nonsense)
not provided
+1 more
GPathogenic
SGCG
(T152I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SGCG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SGCG
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SGCG
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
SGCG
(A173T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SGCG
(F193fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
SGCG
(E176Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SGCG
(H177R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SGCG
(E180V +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SGCG
(D187N +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2C
+1 more
GUncertain significance
SGCG
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2C
+1 more
GConflicting classifications of pathogenicity
SGCG
(L192R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SGCG
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SGCG
Microsatellite
(intron variant)
not specified
+1 more
GConflicting classifications of pathogenicity
SGCG
(L194S +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2C
+2 more
GPathogenic/Likely pathogenic
SGCG
(R199Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SGCG
(S200fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
SGCG
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SGCG
(H210R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SGCG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GUncertain significance
SGCG
(A215T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SGCG
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
SACS, SGCG
Single nucleotide variant
(synonymous variant)
Sarcoglycanopathy
+5 more
GBenign/Likely benign
SGCG
(K246fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
SGCG
(T251fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
SGCG
(E263K +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
SGCG
(I264M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SGCG
(P268L +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2C
+1 more
GUncertain significance
SGCG
(G278S +1 more)
Single nucleotide variant
(missense variant)
Sarcoglycanopathy
+3 more
GConflicting classifications of pathogenicity
SACS, SGCG
(N287S +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
SACS, SGCG
Single nucleotide variant
(3 prime UTR variant)
Sarcoglycanopathy
+4 more
GBenign/Likely benign
SACS, SGCG
Single nucleotide variant
(3 prime UTR variant)
not provided
+5 more
GBenign/Likely benign
Format
Items per page
Sort by
Choose Destination