U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 198

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGAP4, AGAP9
+1221 more
Copy number gain
See cases
GBenign
ABI1, ACBD5
+376 more
Copy number gain
See cases
GLikely pathogenic
MAP3K8
(E2A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAP3K8
(S5I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAP3K8
(S5R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K8
(G7E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K8
(D9G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAP3K8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAP3K8
(N22H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAP3K8
(S24F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K8
(D28N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAP3K8
(A35S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAP3K8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAP3K8
(M47I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K8
(M49K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K8
(D52G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K8
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MAP3K8
(N54D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAP3K8
(D57N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MAP3K8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAP3K8
(R59C)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MAP3K8
(R59H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K8
(S66G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K8
(G67D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MAP3K8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAP3K8
Single nucleotide variant
(synonymous variant)
MAP3K8-related disorder
+1 more
GBenign/Likely benign
MAP3K8
(V76A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K8
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MAP3K8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAP3K8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAP3K8
(H90Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K8
(H90R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K8
(N93D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K8
(R102G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K8
(M112V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K8
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MAP3K8
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MAP3K8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MAP3K8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MAP3K8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MAP3K8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MAP3K8
Single nucleotide variant
(intron variant)
not provided
GBenign
MAP3K8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MAP3K8
Single nucleotide variant
(intron variant)
not provided
GBenign
MAP3K8
Single nucleotide variant
(intron variant)
not provided
GBenign
MAP3K8
Single nucleotide variant
(intron variant)
not provided
GBenign
MAP3K8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MAP3K8
(P116T)
Single nucleotide variant
(missense variant)
MAP3K8-related disorder
GUncertain significance
MAP3K8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAP3K8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAP3K8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAP3K8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAP3K8
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
MAP3K8
(L128F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAP3K8
(G140C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAP3K8
(A148T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAP3K8
(I158T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K8
(T160M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAP3K8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAP3K8
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MAP3K8
Single nucleotide variant
(intron variant)
not provided
GBenign
MAP3K8
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
MAP3K8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MAP3K8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAP3K8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAP3K8
(S177C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAP3K8
(R186Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K8
(E188K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAP3K8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAP3K8
Single nucleotide variant
(synonymous variant)
MAP3K8-related disorder
+1 more
GLikely benign
MAP3K8
(A196V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K8
(W199R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K8
(W199C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAP3K8
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
MAP3K8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAP3K8
(G223R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAP3K8
(E229D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K8
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MAP3K8
Single nucleotide variant
(intron variant)
not provided
GBenign
MAP3K8
(S257N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAP3K8
(M262L)
Single nucleotide variant
(missense variant)
MAP3K8-related disorder
GUncertain significance
MAP3K8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAP3K8
(Q276E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K8
(M277I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MAP3K8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAP3K8
(E279K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K8
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
MAP3K8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MAP3K8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
Format
Items per page
Sort by
Choose Destination