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Links from MedGen

Items: 80

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
XK
(W257*)
Single nucleotide variant
(nonsense)
Elevated circulating creatine kinase concentration
GLikely pathogenic
SGCA
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2D
GLikely benign
DMD
Single nucleotide variant
(splice acceptor variant)
Elevated circulating creatine kinase concentration
GLikely pathogenic
DMD
Single nucleotide variant
(splice donor variant)
Elevated circulating creatine kinase concentration
GLikely pathogenic
POMT2
(S694L)
Single nucleotide variant
(missense variant)
Elevated circulating creatine kinase concentration
GUncertain significance
DAG1
(P280fs)
Deletion
(frameshift variant)
Elevated circulating creatine kinase concentration
GLikely pathogenic
CAV3, OXTR
(V104L)
Single nucleotide variant
(missense variant)
Long QT syndrome
+5 more
GUncertain significance
DMD
(P1003fs +3 more)
Microsatellite
(frameshift variant)
Elevated circulating creatine kinase concentration
GLikely pathogenic
DMD
Single nucleotide variant
(splice acceptor variant)
Elevated circulating creatine kinase concentration
GPathogenic
BAG3
(P259S)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
DMD
(L1505P +5 more)
Single nucleotide variant
(missense variant)
Elevated circulating creatine kinase concentration
GUncertain significance
ANO5
(L251F +1 more)
Single nucleotide variant
(missense variant)
Gnathodiaphyseal dysplasia
+1 more
GUncertain significance
DMD
Indel
Elevated circulating creatine kinase concentration
GLikely pathogenic
PYGM
(A586T +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GUncertain significance
CAV3
(Q12R)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+5 more
GUncertain significance
CAV3, OXTR
(P83S)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+5 more
GUncertain significance
GMPPB
(E335V +1 more)
Single nucleotide variant
(missense variant)
Elevated circulating creatine kinase concentration
GUncertain significance
PYGM
(R222H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DMD
(E380fs +3 more)
Deletion
(frameshift variant)
Elevated circulating creatine kinase concentration
GLikely pathogenic
CAV3, OXTR
(I100N)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+4 more
GLikely pathogenic
CAV3, OXTR
Single nucleotide variant
(3 prime UTR variant)
Hypertrophic cardiomyopathy 1
+5 more
GUncertain significance
CAV3, OXTR
Single nucleotide variant
(3 prime UTR variant)
Hypertrophic cardiomyopathy 1
+5 more
GUncertain significance
CAV3, OXTR
Single nucleotide variant
(3 prime UTR variant)
Hypertrophic cardiomyopathy 1
+5 more
GUncertain significance
CAV3, OXTR
(V104M)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
DMD
Single nucleotide variant
(synonymous variant)
Duchenne muscular dystrophy
GConflicting classifications of pathogenicity
CAV3
Single nucleotide variant
(synonymous variant)
Long QT syndrome
+6 more
GLikely benign
ABCB7, AKAP4
+270 more
Inversion
Elevated circulating creatine kinase concentration
GLikely pathogenic
RYR1
(E438Q)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
+11 more
GUncertain significance
HERC2
(N1682S)
Single nucleotide variant
(missense variant)
Dystonic disorder
+10 more
GUncertain significance
GAA
(G2*)
Single nucleotide variant
(nonsense)
Glycogen storage disease, type II
GLikely pathogenic
GMPPB
(M120V)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2T
GPathogenic
ANO5
(W655C +1 more)
Single nucleotide variant
(missense variant)
Elevated circulating creatine kinase concentration
+4 more
GConflicting classifications of pathogenicity
DMD
Single nucleotide variant
(splice donor variant)
Elevated circulating creatine kinase concentration
+2 more
GPathogenic
DMD
(T2441fs +5 more)
Duplication
(frameshift variant +1 more)
Elevated circulating creatine kinase concentration
+1 more
GLikely pathogenic
PKD1
(E2524del)
Microsatellite
(inframe_deletion)
not provided
+5 more
GConflicting classifications of pathogenicity
RYR1
(G422R)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+7 more
GConflicting classifications of pathogenicity
DDX52, DHRS11
+16 more
Copy number gain
Lower limb muscle weakness
+2 more
GPathogenic
LAMA2
Single nucleotide variant
(intron variant)
not specified
+4 more
GConflicting classifications of pathogenicity
CAV3, OXTR
(I45N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CAV3, OXTR
(A85V)
Single nucleotide variant
(missense variant)
Long QT syndrome
+5 more
GUncertain significance
ANO5
Single nucleotide variant
(splice acceptor variant)
Elevated circulating creatine kinase concentration
GLikely pathogenic
DMD
Single nucleotide variant
(intron variant)
Dystrophinopathy
+1 more
GConflicting classifications of pathogenicity
TCAP
(S31fs)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2G
+1 more
GPathogenic/Likely pathogenic
DMD
Deletion
(splice donor variant)
Elevated circulating creatine kinase concentration
GLikely pathogenic
DMD
(D2063fs +8 more)
Deletion
(frameshift variant)
Elevated circulating creatine kinase concentration
GLikely pathogenic
Miyoshi muscular dystrophy 3
+1 more
GLikely pathogenic
CAV3, OXTR
(P48R)
Single nucleotide variant
(missense variant)
Long QT syndrome
+6 more
GUncertain significance
CAV3, OXTR
(R74H)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
CAV3, OXTR
(E42A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GUncertain significance
CAV3, OXTR
(S61N)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
RYR1
(R1667H)
Single nucleotide variant
(missense variant)
not specified
+10 more
GUncertain significance
DMD
(Q2047* +5 more)
Single nucleotide variant
(nonsense)
Elevated circulating creatine kinase concentration
GPathogenic
CAV3, OXTR
Single nucleotide variant
(3 prime UTR variant)
Limb-Girdle Muscular Dystrophy, Dominant
+7 more
GUncertain significance
CAV3, OXTR
Single nucleotide variant
(3 prime UTR variant)
Limb-Girdle Muscular Dystrophy, Dominant
+7 more
GUncertain significance
CAV3, OXTR
Single nucleotide variant
(3 prime UTR variant)
Caveolinopathy
+7 more
GUncertain significance
CAV3, OXTR
Single nucleotide variant
(3 prime UTR variant)
Caveolinopathy
+7 more
GUncertain significance
DMD
(D3176G +8 more)
Single nucleotide variant
(missense variant)
Elevated circulating creatine kinase concentration
GLikely pathogenic
ANO5
(H253P +1 more)
Single nucleotide variant
(missense variant)
Elevated circulating creatine kinase concentration
GLikely pathogenic
TRIM32, ASTN2
(T456fs)
Microsatellite
(frameshift variant +1 more)
Elevated circulating creatine kinase concentration
GPathogenic
CAV3
(E4fs)
Deletion
(frameshift variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CAV3, OXTR
(A134T)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
ANO5
(S555I +1 more)
Single nucleotide variant
(missense variant)
Myopathy
+8 more
GPathogenic/Likely pathogenic
CAV3, OXTR
(A134V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GUncertain significance
RYR1
(R3867C +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
+8 more
GConflicting classifications of pathogenicity
DMD
(N3064fs +7 more)
Microsatellite
(frameshift variant)
Elevated circulating creatine kinase concentration
+2 more
GPathogenic
OPA1
Deletion
(inframe_deletion +1 more)
Abortive cerebellar ataxia
+12 more
GConflicting classifications of pathogenicity
CAV3, OXTR
(V145M)
Single nucleotide variant
(missense variant)
not specified
+8 more
GUncertain significance
LAMA2
(R2319*)
Single nucleotide variant
(nonsense)
not provided
+5 more
GPathogenic
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy
+3 more
GConflicting classifications of pathogenicity
CAV3, OXTR
Single nucleotide variant
(synonymous variant)
not provided
+10 more
GBenign/Likely benign
CAV3
Single nucleotide variant
(splice donor variant)
Elevated circulating creatine kinase concentration
+5 more
GPathogenic
CAPN3
(T184fs)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+24 more
GPathogenic
CAV3
(P29L)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
CAV3, OXTR
(F97del)
Deletion
(inframe_deletion)
not provided
GUncertain significance
CAV3, SSUH2
(R27Q)
Single nucleotide variant
(missense variant)
Distal myopathy, Tateyama type
+6 more
GPathogenic
CAV3, OXTR
(A46T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GPathogenic
CAV3, OXTR
(C72W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GConflicting classifications of pathogenicity
CAV3, OXTR
(G56S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+13 more
GBenign/Likely benign
GDAP1
(L239F +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+11 more
GPathogenic/Likely pathogenic
ANO5
(N63fs +1 more)
Duplication
(frameshift variant)
Lower limb muscle weakness
+12 more
GPathogenic/Likely pathogenic
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