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Items: 1 to 100 of 362

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129998085, LOC129998086
+904 more
Copy number gain
See cases
GPathogenic
ADAP1, AMZ1
+246 more
Copy number gain
See cases
GUncertain significance
RAC1, RADIL
+823 more
Copy number gain
See cases
GPathogenic
ACTB, ADAP1
+439 more
Copy number gain
See cases
GPathogenic
BRAT1, ACTB
+381 more
Copy number gain
See cases
GPathogenic
ACTB, ADAP1
+357 more
Copy number loss
See cases
GPathogenic
ADAP1, AMZ1
+246 more
Copy number loss
See cases
GPathogenic
ACTB, ADAP1
+418 more
Copy number gain
See cases
GPathogenic
HYCC1, ICA1
+879 more
Copy number gain
See cases
GPathogenic
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
LOC129998210, LOC129998211
+1148 more
Copy number gain
See cases
GPathogenic
ABCB5, ACTB
+1298 more
Copy number gain
See cases
GPathogenic
ABCB5, ACTB
+769 more
Copy number gain
See cases
GPathogenic
SDK1, SDK1-AS1
(R3P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1, SDK1-AS1
(R6W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1, SDK1-AS1
(P20A)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SDK1, SDK1-AS1
(R29Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1, SDK1-AS1
(S31Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1, SDK1-AS1
(S31F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1, SDK1-AS1
(E47A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1, SDK1-AS1
(P48T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1, SDK1-AS1
(R52P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1, SDK1-AS1
(E56A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1, SDK1-AS1
(E56D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1, SDK1-AS1
(T57P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1, SDK1-AS1
(D61A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1, SDK1-AS1
(C68G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1, SDK1-AS1
(G69V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1, SDK1-AS1
(R71W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1, SDK1-AS1
(K75N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1, SDK1-AS1
(P78T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1, SDK1-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SDK1, SDK1-AS1
(A85V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1, SDK1-AS1
(A88G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1, SDK1-AS1
(A96V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
Copy number gain
See cases
GLikely benign
SDK1
Copy number loss
See cases
GUncertain significance
SDK1
Deletion
Normal pregnancy
Gnot provided
SDK1
Copy number loss
See cases
GLikely benign
SDK1
(L122F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
(L127F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
(E135V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
(M139V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
(R140H)
Single nucleotide variant
(missense variant)
not provided
GBenign
SDK1
(R168H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
(A177T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
(M190T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
(S192N)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SDK1
(D197E)
Single nucleotide variant
(missense variant)
not provided
GBenign
SDK1
(R199G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
(T201I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
(R206S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
(R206H)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SDK1
(P214S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
(T224I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
(E228A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
(G229V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
(H230Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
(I233L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
SDK1
(T251A)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SDK1
(G257R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
(A258T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
(V261M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
(I281T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SDK1
(P288S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
(I295V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
(N301D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
(S303N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
(S308F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
(A317V)
Single nucleotide variant
(missense variant)
not provided
GBenign
SDK1
(R345S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
(L347H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
(A355T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SDK1
(E363K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
(A364V)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SDK1
(R375K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
(A378T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
(L380V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
Single nucleotide variant
(intron variant)
not provided
GBenign
SDK1
(P385L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SDK1
(E393K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
(R395Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
(A398P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
(G407V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SDK1
(L418F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
(Q419E)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SDK1
(R434Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
(A439T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
(Q446P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
(E451Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SDK1
(E463K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
(E463V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
(I467M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
(T471S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
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