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Items: 1 to 100 of 133

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC124210612, LOC124210613
+3786 more
Copy number gain
See cases
GPathogenic
LOC121331326, LOC121331327
+3785 more
Copy number gain
See cases
GPathogenic
LOC126860737, LOC126860738
+3786 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3786 more
Copy number gain
See cases
GPathogenic
LOC110121197, LOC110121234
+3786 more
Copy number gain
See cases
GPathogenic
LOC121331342, LOC121331343
+3786 more
Copy number gain
See cases
GPathogenic
LOC130001854, LOC130001855
+1367 more
Copy number gain
See cases
GPathogenic
LOC113839542, LOC113839543
+3786 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3786 more
Copy number gain
See cases
GPathogenic
LOC130002189, LOC130002190
+3786 more
Copy number gain
See cases
GPathogenic
ABCA1, ABHD17B
+1072 more
Copy number gain
See cases
GPathogenic
ABCA1, ABHD17B
+1188 more
Copy number gain
See cases
GPathogenic
AGTPBP1, C9orf153
+31 more
Copy number loss
See cases
GUncertain significance
NAA35
(V2I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NAA35
(D10E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NAA35
(M22I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAA35
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NAA35
Single nucleotide variant
(intron variant)
not provided
GBenign
NAA35
Single nucleotide variant
(intron variant)
not provided
GBenign
NAA35
(A62V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NAA35
(I75M)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
NAA35
(N77K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NAA35
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
NAA35
(G93D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAA35
(I106V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NAA35
(L116W)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
NAA35
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NAA35
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NAA35
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NAA35
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NAA35
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NAA35
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NAA35
(I135V)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
NAA35
(M146V)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
NAA35
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NAA35
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NAA35
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NAA35
(S187G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAA35
(S187I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NAA35
(V188A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAA35
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NAA35
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NAA35
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NAA35
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NAA35
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NAA35
Duplication
(intron variant)
not provided
GLikely benign
NAA35
(V242L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NAA35
(T245S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAA35
(A259G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAA35
(M265V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAA35
(A268T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAA35
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NAA35
(S273C)
Single nucleotide variant
(missense variant)
not provided
GBenign
NAA35
(H281R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NAA35
(Q286K)
Single nucleotide variant
(missense variant)
not provided
GBenign
NAA35
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
NAA35
Single nucleotide variant
(intron variant)
not provided
GBenign
NAA35
Single nucleotide variant
(intron variant)
not provided
GBenign
NAA35
(H294D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NAA35
(I296V)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
NAA35
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NAA35
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NAA35
(V326M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NAA35
(D334G)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
NAA35
(E341K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAA35
Single nucleotide variant
(intron variant)
not provided
GBenign
NAA35
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NAA35
(P363S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAA35
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NAA35
(F375S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NAA35
(D378E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAA35
(S398C)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
NAA35
(Y412C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAA35
(H415Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAA35
(I421M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAA35
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NAA35
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NAA35
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NAA35
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NAA35
(A470V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAA35
(R498C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NAA35
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NAA35
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NAA35
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NAA35
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NAA35
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NAA35
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NAA35
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NAA35
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NAA35
(D541N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAA35
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NAA35
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
NAA35
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NAA35
Deletion
(intron variant)
not provided
GLikely benign
NAA35
(D597H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NAA35
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NAA35
(G600S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NAA35
(R603C)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
NAA35
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NAA35
(S611R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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