U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 123

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SGCA
Single nucleotide variant
(5 prime UTR variant +1 more)
Sarcoglycanopathy
+3 more
GBenign
SGCA
Single nucleotide variant
(5 prime UTR variant +1 more)
Sarcoglycanopathy
+2 more
GUncertain significance
SGCA
(V12M)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SGCA
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
SGCA
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2D
+2 more
GUncertain significance
SGCA
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2D
+2 more
GConflicting classifications of pathogenicity
SGCA
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
SGCA
(D20Y)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2D
+1 more
GUncertain significance
SGCA
(T21I)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
SGCA
(T27M)
Single nucleotide variant
(missense variant +1 more)
Sarcoglycanopathy
+2 more
GConflicting classifications of pathogenicity
SGCA
(H29Y)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SGCA
(P30L)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SGCA
(R34C)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2D
+1 more
GPathogenic/Likely pathogenic
SGCA
(R34H)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
SGCA
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
SGCA
(T39fs)
Insertion
(frameshift variant +1 more)
not provided
GPathogenic
SGCA
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SGCA
(V52G)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SGCA
(A53T)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2D
+1 more
GConflicting classifications of pathogenicity
SGCA
(V54fs)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
SGCA
(A57fs)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
SGCA
(V58L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
SGCA
(Y62fs)
Duplication
(frameshift variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2D
+1 more
GPathogenic/Likely pathogenic
SGCA
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2D
+2 more
GConflicting classifications of pathogenicity
SGCA
(A64T)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2D
+1 more
GConflicting classifications of pathogenicity
SGCA
(L66H)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SGCA
(G68fs)
Deletion
(frameshift variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2D
+1 more
GPathogenic
SGCA
(R77C)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GPathogenic
SGCA
(R77H)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SGCA
(R81C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SGCA
(R81H)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2D
+2 more
GConflicting classifications of pathogenicity
SGCA
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SGCA
(G91D)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SGCA
(R98C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
SGCA
(R98P)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2D
+1 more
GConflicting classifications of pathogenicity
SGCA
(R98H)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy
+2 more
GPathogenic/Likely pathogenic
SGCA
(I103V)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2D
+2 more
GConflicting classifications of pathogenicity
SGCA
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GUncertain significance
SGCA
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
SGCA
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SGCA
(T106fs)
Microsatellite
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
SGCA
(A107V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SGCA
(N109fs)
Duplication
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
SGCA
(R110W)
Single nucleotide variant
(missense variant +1 more)
SGCA-related condition
+4 more
GConflicting classifications of pathogenicity
SGCA
(R110Q)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
SGCA
(R117Q)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2D
+1 more
GUncertain significance
SGCA
(L120R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SGCA
(L122V)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2D
+1 more
GConflicting classifications of pathogenicity
SGCA
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
SGCA
(I124T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
SGCA
(G129S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SGCA
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SGCA
(Y134*)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
SGCA
(Q135*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
SGCA
Single nucleotide variant
(synonymous variant +1 more)
SGCA-related condition
+2 more
GConflicting classifications of pathogenicity
SGCA
(E137K)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
SGCA
(R141S)
Single nucleotide variant
(missense variant +1 more)
Sarcoglycanopathy
+3 more
GConflicting classifications of pathogenicity
SGCA
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
SGCA
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SGCA
Indel
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SGCA
(L164fs)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
SGCA
(G168R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SGCA
(L173P)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
SGCA
(S177fs)
Deletion
(frameshift variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy
+2 more
GPathogenic
SGCA
(R181C)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2D
+2 more
GUncertain significance
SGCA
(R181S)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2D
+1 more
GConflicting classifications of pathogenicity
SGCA
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
SGCA
(L187F)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SGCA
(R192*)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GPathogenic
SGCA
(E194D)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2D
+1 more
GUncertain significance
SGCA
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SGCA
Single nucleotide variant
(splice acceptor variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
SGCA
(V196I)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SGCA
(P205H)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
SGCA
(T208I)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
SGCA
(C209Y)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
SGCA
(D217G)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
SGCA
Single nucleotide variant
(synonymous variant +2 more)
Autosomal recessive limb-girdle muscular dystrophy type 2D
+2 more
GConflicting classifications of pathogenicity
SGCA
(R221C)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive limb-girdle muscular dystrophy type 2D
+1 more
GConflicting classifications of pathogenicity
SGCA
(R221P)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
SGCA
(R221H)
Single nucleotide variant
(missense variant +2 more)
Sarcoglycanopathy
+3 more
GConflicting classifications of pathogenicity
SGCA
(G225D)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
SGCA
(Q226*)
Single nucleotide variant
(nonsense +2 more)
not provided
+1 more
GPathogenic
SGCA
(P227R)
Single nucleotide variant
(missense variant +2 more)
Sarcoglycanopathy
+3 more
GConflicting classifications of pathogenicity
SGCA
Single nucleotide variant
(synonymous variant +2 more)
Sarcoglycanopathy
+3 more
GConflicting classifications of pathogenicity
SGCA
(D234N)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
SGCA
(H239R)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
SGCA
(V242I)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive limb-girdle muscular dystrophy type 2D
+1 more
GUncertain significance
SGCA
(N246S)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
SGCA
(V247M)
Single nucleotide variant
(missense variant +2 more)
Sarcoglycanopathy
+4 more
GConflicting classifications of pathogenicity
SGCA
Single nucleotide variant
(splice donor variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
SGCA
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
SGCA
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
SGCA
(P255L)
Single nucleotide variant
(missense variant +1 more)
Sarcoglycanopathy
+2 more
GConflicting classifications of pathogenicity
SGCA
(E256K)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2D
+1 more
GUncertain significance
SGCA
(P257fs)
Deletion
(intron variant +1 more)
not provided
+1 more
GPathogenic
SGCA
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SGCA
(H271Y)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SGCA
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
SGCA
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination