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Links from Gene

Items: 1 to 100 of 295

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAP3K7
(P271A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K7
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
MAP3K7
(M240T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K7
(Y106C)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
MAP3K7
(A404V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MAP3K7
Duplication
not provided
GUncertain significance
BACH2, CASP8AP2
+3 more
Deletion
not provided
GUncertain significance
MAP3K7
(A73V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP3K7
(V567D +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MAP3K7
(A6T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP3K7
(D528N +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP3K7
(A400T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP3K7
(E336K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP3K7
(S367N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K7
(V42F)
Single nucleotide variant
(missense variant)
Cardiospondylocarpofacial syndrome
GUncertain significance
MAP3K7
Single nucleotide variant
(intron variant)
MAP3K7-related disorder
GLikely benign
MAP3K7
Single nucleotide variant
(synonymous variant)
MAP3K7-related disorder
GLikely benign
MAP3K7
(Q586E +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MAP3K7
Duplication
(intron variant)
not provided
GBenign
MAP3K7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MAP3K7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MAP3K7
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MAP3K7
(A15V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MAP3K7
(P408A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MAP3K7
(K409E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MAP3K7
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
MAP3K7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MAP3K7
(N342D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAP3K7
Duplication
(intron variant)
not provided
GLikely benign
MAP3K7
(C96S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAP3K7
Microsatellite
(inframe_insertion)
not provided
GUncertain significance
MAP3K7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAP3K7
(T327M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K7
(A357G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K7
(D32G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAP3K7
Deletion
(intron variant)
not provided
GUncertain significance
MAP3K7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAP3K7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MAP3K7
(Q452L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAP3K7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MAP3K7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MAP3K7
(S14del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
MAP3K7
(A151T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAP3K7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAP3K7
(R238*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
MAP3K7
(M335R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K7
(I345V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K7
(R450Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MAP3K7
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
MAP3K7
(E105G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAP3K7
Insertion
(intron variant)
not provided
GLikely benign
MAP3K7
(P258T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K7
(G167R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K7
(S318A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AKIRIN2, ANKRD6
+24 more
Copy number loss
not provided
GPathogenic
BACH2, MAP3K7
Copy number gain
not provided
GUncertain significance
MAP3K7
(Q24*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
MAP3K7
(E531V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MAP3K7
(S310G)
Single nucleotide variant
(missense variant)
MAP3K7-related disorder
GUncertain significance
MAP3K7
(T449A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K7
(R372C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP3K7
(G43A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K7
(D343E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAP3K7
(M147V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K7
(R248P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K7
(M392V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MAP3K7
Deletion
(inframe_deletion)
not provided
GUncertain significance
MAP3K7
(M388T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K7
(I399V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP3K7
Deletion
(intron variant)
not provided
GBenign
MAP3K7
(E35Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP3K7
(M392T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP3K7
(K209T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP3K7
(T382A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MAP3K7
(V567I +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MAP3K7
(M18V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP3K7
(L262V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP3K7
(G419D)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
MAP3K7
(A370T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAP3K7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MAP3K7
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MAP3K7
Deletion
(intron variant)
not provided
GUncertain significance
MAP3K7
(G404D +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MAP3K7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAP3K7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MAP3K7
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MAP3K7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MAP3K7
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MAP3K7
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MAP3K7
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
MAP3K7
(I429M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MAP3K7
(S8A)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
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