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Items: 1 to 100 of 620

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DENND5A, DNHD1
+723 more
Copy number gain
See cases
GPathogenic
ANO9, AP2A2
+204 more
Copy number gain
See cases
GPathogenic
A-GAMMA3'E, ANO9
+388 more
Copy number gain
See cases
GPathogenic
ANO9, AP2A2
+271 more
Copy number gain
See cases
GPathogenic
LOC130005164, LOC130005165
+332 more
Copy number gain
See cases
GPathogenic
ANO9, AP2A2
+266 more
Copy number gain
See cases
GPathogenic
TRIM22, TRIM3
+917 more
Copy number gain
See cases
GPathogenic
ASCL2, BGLT3
+328 more
Deletion
Thalassemia, gamma-delta-beta
GPathogenic
AP2A2, BRSK2
+115 more
Copy number loss
See cases
GPathogenic
LOC121392887, PNPLA2
Single nucleotide variant
(5 prime UTR variant)
Neutral lipid storage myopathy
GUncertain significance
PNPLA2, LOC121392887
Single nucleotide variant
(5 prime UTR variant)
Neutral lipid storage myopathy
GUncertain significance
LOC121392887, PNPLA2
Single nucleotide variant
(5 prime UTR variant)
Neutral lipid storage myopathy
GUncertain significance
LOC130005097, PNPLA2
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC130005097, PNPLA2
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC130005097, PNPLA2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC130005097, PNPLA2
Single nucleotide variant
(intron variant)
Neutral lipid storage myopathy
GUncertain significance
LOC130005097, PNPLA2
Single nucleotide variant
(5 prime UTR variant)
Neutral lipid storage myopathy
GUncertain significance
LOC130005097, PNPLA2
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GUncertain significance
LOC130005097, PNPLA2
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GUncertain significance
PNPLA2, LOC130005097
Single nucleotide variant
(5 prime UTR variant)
Neutral lipid storage myopathy
GUncertain significance
LOC130005097, PNPLA2
Single nucleotide variant
(5 prime UTR variant)
Neutral lipid storage myopathy
GUncertain significance
LOC130005097, PNPLA2
Single nucleotide variant
(5 prime UTR variant)
Neutral lipid storage myopathy
GLikely benign
LOC130005097, PNPLA2
(R4C)
Single nucleotide variant
(missense variant)
Neutral lipid storage myopathy
GUncertain significance
LOC130005097, PNPLA2
(R4H)
Single nucleotide variant
(missense variant)
Neutral lipid storage myopathy
GUncertain significance
LOC130005097, PNPLA2
Single nucleotide variant
(synonymous variant)
Neutral lipid storage myopathy
GLikely benign
LOC130005097, PNPLA2
Single nucleotide variant
(synonymous variant)
Neutral lipid storage myopathy
GLikely benign
LOC130005097, PNPLA2
(W8*)
Single nucleotide variant
(nonsense)
Neutral lipid storage myopathy
GLikely pathogenic
LOC130005097, PNPLA2
Single nucleotide variant
(synonymous variant)
Neutral lipid storage myopathy
+1 more
GLikely benign
LOC130005097, PNPLA2
(S11L)
Single nucleotide variant
(missense variant)
Abnormality of the musculature
GLikely pathogenic
LOC130005097, PNPLA2
Single nucleotide variant
(synonymous variant)
Neutral lipid storage myopathy
GLikely benign
LOC130005097, PNPLA2
Single nucleotide variant
(synonymous variant)
Neutral lipid storage myopathy
GConflicting classifications of pathogenicity
LOC130005097, PNPLA2
(G14S)
Single nucleotide variant
(missense variant)
Neutral lipid storage myopathy
GUncertain significance
LOC130005097, PNPLA2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC130005097, PNPLA2
(C15S)
Single nucleotide variant
(missense variant)
Neutral lipid storage myopathy
GUncertain significance
LOC130005097, PNPLA2
(C15*)
Single nucleotide variant
(nonsense)
Neutral lipid storage myopathy
GPathogenic
LOC130005097, PNPLA2
(L18F)
Single nucleotide variant
(missense variant)
Neutral lipid storage myopathy
GUncertain significance
LOC130005097, PNPLA2
(G19R)
Single nucleotide variant
(missense variant)
Neutral lipid storage myopathy
GUncertain significance
LOC130005097, PNPLA2
Single nucleotide variant
(synonymous variant)
Neutral lipid storage myopathy
GLikely benign
LOC130005097, PNPLA2
(Y21C)
Single nucleotide variant
(missense variant)
Neutral lipid storage myopathy
GUncertain significance
LOC130005097, PNPLA2
(Y21*)
Single nucleotide variant
(nonsense)
Neutral lipid storage myopathy
GPathogenic
LOC130005097, PNPLA2
(G24C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC130005097, PNPLA2
Single nucleotide variant
(synonymous variant)
Neutral lipid storage myopathy
GLikely benign
LOC130005097, PNPLA2
(V25A)
Single nucleotide variant
(missense variant)
Neutral lipid storage myopathy
GUncertain significance
LOC130005097, PNPLA2
(A26T)
Single nucleotide variant
(missense variant)
Neutral lipid storage myopathy
GUncertain significance
LOC130005097, PNPLA2
(A26V)
Single nucleotide variant
(missense variant)
Neutral lipid storage myopathy
+1 more
GUncertain significance
LOC130005097, PNPLA2
(S27F)
Single nucleotide variant
(missense variant)
Neutral lipid storage myopathy
GUncertain significance
LOC130005097, PNPLA2
(L29F)
Single nucleotide variant
(missense variant)
Neutral lipid storage myopathy
GUncertain significance
LOC130005097, PNPLA2
(R30C)
Single nucleotide variant
(missense variant)
Neutral lipid storage myopathy
+1 more
GUncertain significance
LOC130005097, PNPLA2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
LOC130005097, PNPLA2
(E31*)
Single nucleotide variant
(nonsense)
Neutral lipid storage myopathy
GLikely pathogenic
LOC130005097, PNPLA2
Single nucleotide variant
(synonymous variant)
Neutral lipid storage myopathy
GLikely benign
PNPLA2, LOC130005097
Single nucleotide variant
(synonymous variant)
Neutral lipid storage myopathy
GLikely benign
LOC130005097, PNPLA2
Single nucleotide variant
(synonymous variant)
Neutral lipid storage myopathy
GLikely benign
LOC130005097, PNPLA2
(T41K)
Single nucleotide variant
(missense variant)
Neutral lipid storage myopathy
GUncertain significance
LOC130005097, PNPLA2
Single nucleotide variant
(synonymous variant)
Neutral lipid storage myopathy
GLikely benign
LOC130005097, PNPLA2
(I43V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LOC130005097, PNPLA2
(I43S)
Single nucleotide variant
(missense variant)
Neutral lipid storage myopathy
GUncertain significance
LOC130005097, PNPLA2
(Y44C)
Single nucleotide variant
(missense variant)
Neutral lipid storage myopathy
GUncertain significance
LOC130005097, PNPLA2
Single nucleotide variant
(synonymous variant)
Neutral lipid storage myopathy
GLikely benign
LOC130005097, PNPLA2
(A53T)
Single nucleotide variant
(missense variant)
Neutral lipid storage myopathy
GUncertain significance
LOC130005097, PNPLA2
(T54R)
Single nucleotide variant
(missense variant)
Neutral lipid storage myopathy
GUncertain significance
LOC130005097, PNPLA2
Single nucleotide variant
(synonymous variant)
Neutral lipid storage myopathy
GConflicting classifications of pathogenicity
LOC130005097, PNPLA2
Single nucleotide variant
(synonymous variant)
Neutral lipid storage myopathy
+1 more
GLikely benign
LOC130005097, PNPLA2
Single nucleotide variant
(synonymous variant)
Neutral lipid storage myopathy
GLikely benign
LOC130005097, PNPLA2
Single nucleotide variant
(synonymous variant)
Neutral lipid storage myopathy
GLikely benign
LOC130005097, PNPLA2
(V60I)
Single nucleotide variant
(missense variant)
Neutral lipid storage myopathy
GUncertain significance
LOC130005097, PNPLA2
(C61F)
Single nucleotide variant
(missense variant)
Neutral lipid storage myopathy
GUncertain significance
LOC130005097, PNPLA2
Single nucleotide variant
(splice donor variant)
Neutral lipid storage myopathy
+1 more
GPathogenic/Likely pathogenic
LOC130005097, PNPLA2
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
LOC130005097, PNPLA2
Single nucleotide variant
(intron variant)
Neutral lipid storage myopathy
GLikely benign
PNPLA2
Single nucleotide variant
(intron variant)
not provided
GBenign
PNPLA2
Single nucleotide variant
(intron variant)
Neutral lipid storage myopathy
GLikely benign
PNPLA2
(A65V)
Single nucleotide variant
(missense variant)
Neutral lipid storage myopathy
GUncertain significance
PNPLA2
Single nucleotide variant
(synonymous variant)
Neutral lipid storage myopathy
GLikely benign
PNPLA2
Single nucleotide variant
(synonymous variant)
Neutral lipid storage myopathy
GLikely benign
PNPLA2
Insertion
(nonsense)
Neutral lipid storage myopathy
GPathogenic
PNPLA2
(A76T)
Single nucleotide variant
(missense variant)
Neutral lipid storage myopathy
GUncertain significance
PNPLA2
(R77W)
Single nucleotide variant
(missense variant)
Neutral lipid storage myopathy
GUncertain significance
PNPLA2
(R77Q)
Single nucleotide variant
(missense variant)
Neutral lipid storage myopathy
GUncertain significance
PNPLA2
(R79W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PNPLA2
(R79Q)
Single nucleotide variant
(missense variant)
Neutral lipid storage myopathy
GConflicting classifications of pathogenicity
PNPLA2
Single nucleotide variant
(synonymous variant)
Neutral lipid storage myopathy
GLikely benign
PNPLA2
(G82D)
Single nucleotide variant
(missense variant)
Neutral lipid storage myopathy
GLikely pathogenic
PNPLA2
Single nucleotide variant
(synonymous variant)
Neutral lipid storage myopathy
+1 more
GBenign
PNPLA2
(P83A)
Single nucleotide variant
(missense variant)
Neutral lipid storage myopathy
GUncertain significance
PNPLA2
Single nucleotide variant
(synonymous variant)
Neutral lipid storage myopathy
GLikely benign
PNPLA2
(P86S)
Single nucleotide variant
(missense variant)
Neutral lipid storage myopathy
GUncertain significance
PNPLA2
Single nucleotide variant
(synonymous variant)
Neutral lipid storage myopathy
GLikely benign
PNPLA2
(S87F)
Single nucleotide variant
(missense variant)
Neutral lipid storage myopathy
GUncertain significance
PNPLA2
Single nucleotide variant
(synonymous variant)
Neutral lipid storage myopathy
GLikely benign
PNPLA2
(I93M)
Single nucleotide variant
(missense variant)
Neutral lipid storage myopathy
GUncertain significance
PNPLA2
Single nucleotide variant
(synonymous variant)
Neutral lipid storage myopathy
GLikely benign
PNPLA2
(R95C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PNPLA2
(R95H)
Single nucleotide variant
(missense variant)
Neutral lipid storage myopathy
+1 more
GUncertain significance
PNPLA2
Single nucleotide variant
(synonymous variant)
Neutral lipid storage myopathy
GUncertain significance
PNPLA2
(F97L)
Single nucleotide variant
(missense variant)
Neutral lipid storage myopathy
GUncertain significance
PNPLA2
(A104I)
Indel
(missense variant)
Neutral lipid storage myopathy
GUncertain significance
PNPLA2
(H107R)
Single nucleotide variant
(missense variant)
Neutral lipid storage myopathy
GUncertain significance
PNPLA2
(E108K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PNPLA2
(H109R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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