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Items: 1 to 100 of 132

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129997450, LOC129997451
+1002 more
Copy number gain
See cases
GPathogenic
LOC129389719, LOC129389720
+866 more
Copy number gain
See cases
GPathogenic
LOC101929460, LOC102724087
+572 more
Copy number gain
See cases
GPathogenic
LOC129997640, LOC129997641
+564 more
Copy number loss
See cases
GPathogenic
ACAT2, AFDN
+549 more
Copy number loss
See cases
GPathogenic
IGF2R, KIF25
+540 more
Copy number loss
See cases
GPathogenic
SOD2, SOD2-OT1
+270 more
Copy number loss
See cases
GPathogenic
LOC126859858, LOC126859859
+340 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+322 more
Copy number loss
See cases
GPathogenic
LOC129997629, LOC129997630
+323 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+300 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+298 more
Copy number loss
See cases
GPathogenic
LOC105378098, LOC113174971
+25 more
Copy number gain
See cases
GUncertain significance
AFDN, AFDN-DT
+278 more
Copy number loss
See cases
GPathogenic
LOC129389716, AGPAT4
+12 more
Duplication
Normal pregnancy
Gnot provided
MAP3K4, MAP3K4-AS1
(P11S)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
MAP3K4, MAP3K4-AS1
(P27S)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
MAP3K4, MAP3K4-AS1
(P32S)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
MAP3K4, MAP3K4-AS1
(P34L)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
MAP3K4, MAP3K4-AS1
(E39K)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
MAP3K4, MAP3K4-AS1
(C46F)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
MAP3K4, MAP3K4-AS1
(C47G)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
MAP3K4, MAP3K4-AS1
(C47R)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
MAP3K4
(L56W)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MAP3K4
(S63G)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MAP3K4
(E78D)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MAP3K4
(P86R)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MAP3K4
(M92R)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MAP3K4
(R94H)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MAP3K4
(H125R)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MAP3K4
(K126T)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MAP3K4
(Y138H)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MAP3K4
(R155H)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MAP3K4
(G172V)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MAP3K4
(D183A)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MAP3K4
(P199A)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MAP3K4
(P203S)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MAP3K4
(M204I)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MAP3K4
(P205L)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MAP3K4
(I206V)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MAP3K4
(R208K)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MAP3K4
(D279N)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MAP3K4
(I294T)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MAP3K4
(T300I)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MAP3K4
(D313G)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MAP3K4
(G316S)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GLikely benign
MAP3K4
(K333R)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MAP3K4
(R346H)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MAP3K4
(R356L)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MAP3K4
(R356Q)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MAP3K4
(Y368F)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MAP3K4
(G437S)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MAP3K4
(G437V)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MAP3K4
(I478V)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GLikely benign
MAP3K4
(S486L)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MAP3K4
(E514G)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MAP3K4
(S524F)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MAP3K4
(L542F)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MAP3K4
(R556G)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MAP3K4
(R566C)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MAP3K4
(M30L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAP3K4
(M30T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAP3K4
(M577I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAP3K4
(Q37H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
MAP3K4
(S50R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAP3K4
(E613K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAP3K4
(C83S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAP3K4
(Y122H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAP3K4
(I140T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAP3K4
(M150I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAP3K4
(E735G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAP3K4
(G756R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAP3K4
(A228V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAP3K4
(S238I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAP3K4
(K846R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAP3K4
(L330V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAP3K4
(V895I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAP3K4
(Y900C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAP3K4
(R362G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAP3K4
(D915N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAP3K4
(A953V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAP3K4
(E428G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAP3K4
(N445D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAP3K4
(I1001V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAP3K4
(N1003K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
MAP3K4
(A1004T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAP3K4
(R460H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
MAP3K4
(M489V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAP3K4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MAP3K4
(I1062T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAP3K4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MAP3K4
(A1070S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAP3K4
(N1075S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAP3K4
(K533R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAP3K4
(D1182H +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
MAP3K4
(D1178G +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
MAP3K4
(V1196A +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
MAP3K4
(R1200Q +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
MAP3K4
(G1206D +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
MAP3K4
(S1208P +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
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