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Items: 1 to 100 of 273

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CNTN1, LINC01779
+25 more
Copy number gain
See cases
GUncertain significance
LINC01779, LOC130007688
+1 more
Single nucleotide variant
not provided
GBenign
LINC01779, LOC130007688
+1 more
Single nucleotide variant
(genic upstream transcript variant)
not provided
GLikely benign
LRRK2, LOC130007688
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GBenign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GBenign
LRRK2
(H61R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRK2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GBenign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRRK2
(H115P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
LRRK2
(Q116R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
LRRK2
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LRRK2
Single nucleotide variant
(intron variant)
not provided
GBenign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GBenign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRRK2
(I118fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
LRRK2
(L119P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LRRK2
Single nucleotide variant
(intron variant)
not provided
GBenign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GBenign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GBenign
LRRK2
Microsatellite
(intron variant)
not provided
GBenign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GBenign
LRRK2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
LRRK2
(F160I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LRRK2
Single nucleotide variant
(intron variant)
not provided
GBenign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GBenign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GBenign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GBenign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GBenign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRRK2
(N251D)
Single nucleotide variant
(missense variant)
Autosomal dominant Parkinson disease 8
+1 more
GUncertain significance
LRRK2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GBenign
LRRK2
Single nucleotide variant
(synonymous variant)
Autosomal dominant Parkinson disease 8
+1 more
GBenign/Likely benign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GBenign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GBenign
LRRK2
Duplication
(intron variant)
not provided
GBenign
LRRK2
Deletion
(intron variant)
not provided
GLikely benign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GBenign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRRK2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GBenign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GBenign
LRRK2
Single nucleotide variant
(intron variant)
Autosomal dominant Parkinson disease 8
+1 more
GBenign/Likely benign
LRRK2
(Q416*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
LRRK2
(A419V)
Single nucleotide variant
(missense variant)
LRRK2-related condition
+2 more
GBenign/Likely benign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GBenign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRRK2
Deletion
(intron variant)
not provided
GLikely benign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GBenign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRRK2
(R506Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GBenign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GBenign
LRRK2
(N551K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GBenign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRRK2
(L580F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
LRRK2
Duplication
(intron variant)
not provided
+1 more
GBenign
LRRK2
(G606D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRK2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GBenign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRRK2
(M704V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
LRRK2
(M712V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRK2
(I723V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GBenign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GBenign
LRRK2
(P755L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
LRRK2
(R793M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LRRK2
(F808I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LRRK2
(I810V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRK2
Deletion
(intron variant)
not provided
GBenign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GBenign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GBenign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GBenign
LRRK2
Duplication
(intron variant)
not provided
+2 more
GBenign
LRRK2
(S865F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
LRRK2
(S895N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRK2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GBenign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GBenign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GBenign
LRRK2
Single nucleotide variant
(intron variant)
not provided
GBenign
LRRK2
(V921I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
LRRK2
(Q923H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LRRK2
Single nucleotide variant
(intron variant)
not provided
GBenign
LRRK2
Microsatellite
(intron variant)
not provided
GBenign
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