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Items: 1 to 100 of 1595

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTC1, APBA2
+363 more
Copy number gain
See cases
GPathogenic
ACTC1, APBA2
+346 more
Copy number loss
See cases
GPathogenic
SNORD115-20, SNORD115-21
+314 more
Copy number loss
See cases
GPathogenic
LOC132090301, LOC132090302
+178 more
Copy number loss
See cases
GPathogenic
ACTC1, AQR
+93 more
Copy number gain
See cases
GPathogenic
ACTC1, AQR
+219 more
Copy number loss
See cases
GPathogenic
LOC130056751, LOC130056752
+62 more
Copy number gain
Autism spectrum disorder
GUncertain significance
FMN1, LOC130056729
+5 more
Copy number loss
See cases
GUncertain significance
RYR3
(G4A)
Single nucleotide variant
(missense variant)
Congenital myopathy 20
+1 more
GConflicting classifications of pathogenicity
RYR3
(G5R)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
RYR3
(G5E)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
RYR3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RYR3
(E6G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
RYR3
(D10E)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
+1 more
GUncertain significance
RYR3
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
RYR3
Single nucleotide variant
(intron variant)
Epileptic encephalopathy
GLikely benign
RYR3
Deletion
(intron variant)
RYR3-related condition
+1 more
GBenign
RYR3
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
RYR3
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
RYR3
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GBenign
RYR3
(A27T)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
RYR3
(A27D)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
RYR3
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
RYR3
(R46C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RYR3
(R46H)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
RYR3
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
RYR3
(S54A)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
RYR3
(S54L)
Single nucleotide variant
(missense variant)
Congenital myopathy 20
+1 more
GUncertain significance
RYR3
(P60A)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
RYR3
(C64Y)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
RYR3
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
RYR3
(V65I)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
+1 more
GUncertain significance
RYR3
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
RYR3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RYR3
(A84V)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
RYR3
(E88D)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
RYR3
(G91del)
Microsatellite
(inframe_deletion)
Epileptic encephalopathy
GUncertain significance
RYR3
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
RYR3
(G91S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RYR3
Single nucleotide variant
(synonymous variant)
RYR3-related condition
GLikely benign
RYR3
(E92K)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GLikely benign
RYR3
Single nucleotide variant
(intron variant)
Epileptic encephalopathy
GLikely benign
RYR3
Single nucleotide variant
(intron variant)
Epileptic encephalopathy
GBenign
RYR3
Single nucleotide variant
(intron variant)
not specified
GLikely benign
RYR3
Single nucleotide variant
(intron variant)
Epileptic encephalopathy
GBenign
RYR3
Single nucleotide variant
(intron variant)
Epileptic encephalopathy
GLikely benign
RYR3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RYR3
(Q96R)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
RYR3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
RYR3
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
RYR3
(R101K)
Single nucleotide variant
(missense variant)
Seizure
GUncertain significance
RYR3
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
RYR3
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
RYR3
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
+1 more
GLikely benign
RYR3
(G117R)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
RYR3
Single nucleotide variant
(intron variant)
Epileptic encephalopathy
GUncertain significance
RYR3
Single nucleotide variant
(intron variant)
Epileptic encephalopathy
GUncertain significance
RYR3
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
RYR3
(D131E)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
RYR3
(R140W)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
RYR3
Single nucleotide variant
(intron variant)
Epileptic encephalopathy
GBenign
RYR3
(I152V)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
RYR3
(I152L)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
RYR3
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
RYR3
(L171F)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
RYR3
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
RYR3
(V176M)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
RYR3
Single nucleotide variant
(intron variant)
Epileptic encephalopathy
GLikely benign
RYR3
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
RYR3
(V186I)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
RYR3
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
RYR3
(G189S)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
RYR3
(I191V)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
RYR3
(V193G)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
RYR3
(M198V)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
+1 more
GUncertain significance
RYR3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
RYR3
(S209P)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
RYR3
(I213M)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
RYR3
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
RYR3
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
RYR3
(R225H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
RYR3
(H228R)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
RYR3
(H230D)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
RYR3
(C233R)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
RYR3
(T235A)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
RYR3
(T235M)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
RYR3
(I236M)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
+1 more
GUncertain significance
RYR3
(D240E)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
RYR3
(N242S)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GLikely benign
RYR3
Single nucleotide variant
(intron variant)
Epileptic encephalopathy
GLikely benign
RYR3
Single nucleotide variant
(intron variant)
Epileptic encephalopathy
GLikely benign
RYR3
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
RYR3
(A256T)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
RYR3
(T258I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RYR3
(R259*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
RYR3
(R259Q)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
RYR3
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
RYR3
(R270W)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
RYR3
(R270Q)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
RYR3
Single nucleotide variant
(intron variant)
Epileptic encephalopathy
GUncertain significance
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