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Items: 1 to 100 of 9157

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
ACP7, ACTMAP
+514 more
Copy number gain
See cases
GPathogenic
RYR1
Single nucleotide variant
not provided
GUncertain significance
RYR1
Single nucleotide variant
not provided
GLikely benign
RYR1
Single nucleotide variant
not provided
GLikely benign
RYR1
Single nucleotide variant
not provided
GLikely benign
RYR1
Single nucleotide variant
not provided
GLikely benign
LOC130064350, RYR1
Single nucleotide variant
(5 prime UTR variant)
Malignant hyperthermia, susceptibility to, 1
+2 more
GUncertain significance
RYR1
Single nucleotide variant
(5 prime UTR variant)
Malignant hyperthermia, susceptibility to, 1
+4 more
GBenign
RYR1
Single nucleotide variant
(5 prime UTR variant)
Neuromuscular disease, congenital, with uniform type 1 fiber
+3 more
GBenign/Likely benign
RYR1
Deletion
(5 prime UTR variant)
not provided
GLikely benign
RYR1
Duplication
(5 prime UTR variant)
Central core myopathy
+3 more
GUncertain significance
RYR1
Single nucleotide variant
(5 prime UTR variant)
Malignant hyperthermia, susceptibility to, 1
+5 more
GUncertain significance
RYR1
Duplication
(5 prime UTR variant)
Malignant hyperthermia of anesthesia
+3 more
GUncertain significance
RYR1
Single nucleotide variant
(5 prime UTR variant)
Malignant hyperthermia, susceptibility to, 1
+2 more
GUncertain significance
RYR1
Single nucleotide variant
(5 prime UTR variant)
Malignant hyperthermia, susceptibility to, 1
+5 more
GUncertain significance
RYR1
Single nucleotide variant
(5 prime UTR variant)
Congenital multicore myopathy with external ophthalmoplegia
+2 more
GUncertain significance
RYR1
Single nucleotide variant
(5 prime UTR variant)
Congenital multicore myopathy with external ophthalmoplegia
+2 more
GUncertain significance
RYR1
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
RYR1
Single nucleotide variant
(5 prime UTR variant)
Congenital multicore myopathy with external ophthalmoplegia
+1 more
GUncertain significance
RYR1
Duplication
RYR1-related disorder
GUncertain significance
RYR1
(M1I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
RYR1
(G2A)
Single nucleotide variant
(missense variant)
Congenital multicore myopathy with external ophthalmoplegia
+3 more
GUncertain significance
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-related disorder
GLikely benign
RYR1
Duplication
(inframe_insertion)
RYR1-related disorder
GUncertain significance
RYR1
(D8E)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
+2 more
GUncertain significance
RYR1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RYR1
(F12L)
Single nucleotide variant
(missense variant)
RYR1-related disorder
GUncertain significance
RYR1
(F12fs)
Indel
(frameshift variant)
not provided
Gnot provided
RYR1
(F12L)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GUncertain significance
RYR1
(L13R)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GLikely pathogenic
RYR1
(R14W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RYR1
Single nucleotide variant
(synonymous variant)
Malignant hyperthermia, susceptibility to, 1
+1 more
GLikely benign
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-related disorder
GLikely benign
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-related disorder
GUncertain significance
RYR1
Single nucleotide variant
(splice donor variant)
RYR1-related disorder
GLikely pathogenic
RYR1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
RYR1
Single nucleotide variant
(intron variant)
RYR1-related disorder
GLikely benign
RYR1
Single nucleotide variant
(intron variant)
RYR1-related disorder
GLikely benign
RYR1
Deletion
(intron variant)
RYR1-related disorder
GBenign
RYR1
Single nucleotide variant
(intron variant)
RYR1-related disorder
GLikely benign
RYR1
Single nucleotide variant
(intron variant)
not specified
GBenign
RYR1
Single nucleotide variant
(intron variant)
not provided
GBenign
RYR1
Single nucleotide variant
(intron variant)
not provided
GBenign
RYR1
Single nucleotide variant
(intron variant)
RYR1-related disorder
GLikely benign
RYR1
Single nucleotide variant
(intron variant)
RYR1-related disorder
GLikely benign
RYR1
Single nucleotide variant
(intron variant)
RYR1-related disorder
GLikely benign
RYR1
Single nucleotide variant
(intron variant)
RYR1-related disorder
GLikely benign
RYR1
Single nucleotide variant
(intron variant)
RYR1-related disorder
GLikely benign
RYR1
Single nucleotide variant
(intron variant)
RYR1-related disorder
GLikely benign
RYR1
Single nucleotide variant
(intron variant)
RYR1-related disorder
+1 more
GUncertain significance
RYR1
Single nucleotide variant
(intron variant)
RYR1-related disorder
GLikely benign
RYR1
Single nucleotide variant
(intron variant)
RYR1-related disorder
+6 more
GLikely benign
RYR1
Single nucleotide variant
(intron variant)
RYR1-related disorder
GLikely benign
RYR1
Single nucleotide variant
(intron variant)
Congenital multicore myopathy with external ophthalmoplegia
+5 more
GConflicting classifications of pathogenicity
RYR1
Single nucleotide variant
(intron variant)
RYR1-related disorder
+2 more
GLikely benign
RYR1
Single nucleotide variant
(splice acceptor variant)
RYR1-related disorder
+2 more
GLikely pathogenic
RYR1
(D16G)
Single nucleotide variant
(missense variant)
RYR1-related disorder
GUncertain significance
RYR1
Single nucleotide variant
(synonymous variant)
Malignant hyperthermia, susceptibility to, 1
+1 more
GLikely benign
RYR1
(D17N)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
+5 more
GUncertain significance
RYR1
(D17del)
Deletion
(inframe_deletion)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
Single nucleotide variant
(synonymous variant)
Malignant hyperthermia, susceptibility to, 1
+1 more
GLikely benign
RYR1
(V19A)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GUncertain significance
RYR1
(V20I)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-related disorder
GLikely benign
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-related disorder
GLikely benign
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-related disorder
GLikely benign
RYR1
(S24fs)
Deletion
(frameshift variant)
RYR1-related disorder
GPathogenic
RYR1
Single nucleotide variant
(synonymous variant)
Malignant hyperthermia, susceptibility to, 1
+1 more
GConflicting classifications of pathogenicity
RYR1
(A25T)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GUncertain significance
RYR1
(T26P)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
+2 more
GUncertain significance
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-related disorder
+1 more
GLikely benign
RYR1
(V27M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-related disorder
GLikely benign
RYR1
(L28F)
Single nucleotide variant
(missense variant)
Central core myopathy
+6 more
GUncertain significance
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-related disorder
GLikely benign
RYR1
(K29E)
Single nucleotide variant
(missense variant)
RYR1-related disorder
GUncertain significance
RYR1
(E30V)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+5 more
GConflicting classifications of pathogenicity
RYR1
(Q31R)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GUncertain significance
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-related disorder
GLikely benign
RYR1
(L32F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
RYR1
(K33Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RYR1
(K33E)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GLikely pathogenic
RYR1
(K33R)
Single nucleotide variant
(missense variant)
RYR1-related disorder
GUncertain significance
RYR1
(L34V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RYR1
(C35R)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
+7 more
GPathogenic; drug response
RYR1
Single nucleotide variant
(synonymous variant)
Malignant hyperthermia, susceptibility to, 1
+1 more
GLikely benign
RYR1
(A38T)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+6 more
GUncertain significance
RYR1
(A38S)
Single nucleotide variant
(missense variant)
RYR1-related disorder
GUncertain significance
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-related disorder
+2 more
GLikely benign
RYR1
(E39K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
RYR1
(E39G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RYR1
(G40A)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GUncertain significance
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-related disorder
+1 more
GLikely benign
RYR1
(F41S)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+2 more
GConflicting classifications of pathogenicity
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-related disorder
+2 more
GLikely benign
RYR1
(G42S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RYR1
(G42R)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+1 more
GUncertain significance
RYR1
(G42D)
Single nucleotide variant
(missense variant)
Congenital multicore myopathy with external ophthalmoplegia
+2 more
GUncertain significance
RYR1
(N43T)
Single nucleotide variant
(missense variant)
Congenital multicore myopathy with external ophthalmoplegia
GLikely pathogenic
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