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 115

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129932539, LOC129932540
+1148 more
Copy number gain
See cases
GPathogenic
ZBED6, ZC3H11A
(I33V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(N34I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(G67S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(R75H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(G90E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(P94L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(L101V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(S159N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(N212I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(A239T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(A242P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(A242V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(A257V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(D333H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(S340R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(L342F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(T353P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(D362V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(V385I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(M392T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(A394P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(Q395E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(M422T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZC3H11A, ZBED6
(P424S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(N426S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(S429L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(P458S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(N474S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(H489R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(D518N)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ZBED6, ZC3H11A
(C534S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(F555L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(S559G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(D743N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(C773Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(E797A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(N801S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(P813A)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ZBED6, ZC3H11A
(N850S)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ZBED6, ZC3H11A
(A852V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(D868N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(F878L)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ZBED6, ZC3H11A
(S893N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(L948F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(Q971R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(C16R)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(D20N)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(T35I)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(S143I)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(D175V)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(T181P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(L182V)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZC3H11A, ZBED6
(H189N)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(S241G)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(L244V)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(V249I)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GLikely benign
ZBED6, ZC3H11A
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
ZBED6, ZC3H11A
(S267C)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(T268I)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(T281I)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(R301C)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(E315K)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(T347A)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ZBED6, ZC3H11A
(I356M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(P385T)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(D428N)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(K435T)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(I436T)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GLikely benign
ZC3H11A, ZBED6
(V445F)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(T463I)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(Q467R)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(H470R)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(E476G)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(L479P)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(P496L)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(E500K)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(T502S)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(R507W)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(E519K)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(G526E)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GLikely benign
ZBED6, ZC3H11A
(A539T)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(E560K)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(R582Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GLikely benign
ZBED6, ZC3H11A
(V592L)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(I604L)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(V620M)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(G628E)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(S630L)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(C636Y)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(C636S)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(K646R)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(V649M +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(A680D +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(P693L +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(V706I +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ZBED6, ZC3H11A
(P738L +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(P745T +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZBED6, ZC3H11A
(R755L +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
Format
Items per page
Sort by
Choose Destination