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Items: 61

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LINC01296, LINC01297
+17 more
Copy number loss
See cases
GBenign
LINC01296, LINC01297
+17 more
Copy number gain
See cases
GBenign
LINC01296, LINC01297
+15 more
Copy number loss
See cases
GBenign
LINC01296, LINC01297
+15 more
Copy number loss
See cases
GBenign
LINC01296, LINC01297
+6 more
Copy number loss
See cases
GBenign
LINC01296, LINC01297
+7 more
Copy number gain
See cases
GBenign
LINC01296, LINC01297-DUXAP10-NBEAP6
+3 more
Copy number gain
See cases
GBenign
LINC01296, LNCRNA-ATB
+2 more
Copy number loss
See cases
GBenign
LINC01296, LINC01297
+5 more
Copy number loss
See cases
GBenign
LINC01296, LINC01297
+7 more
Copy number gain
See cases
GUncertain significance
POTEM
(A10T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POTEM
(A11V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POTEM
(P17T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POTEM
(S38R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POTEM
(N42K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POTEG, POTEM
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
POTEM
(D50E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POTEM
(D51V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POTEM
(D51E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POTEM
(S52P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POTEM
(M54V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POTEM
(M61T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POTEM
(K63E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POTEM
(R66C)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
POTEM
(N79S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POTEM
(G84E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POTEM
(D85E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POTEM
(R95G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POTEM
(G111E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POTEM
(S115N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POTEM
(P119T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POTEM
(R136C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POTEM
(W148S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
POTEM
(W148C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POTEM
(L157F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POTEM
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
POTEM
(V159I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POTEM
(M166L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POTEM
(H271R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POTEM
(G272A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POTEM
(L273F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POTEM
(F290Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC100508046, POTEM
(T307S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC100508046, POTEM
(I320T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC100508046, POTEM
(N328K)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC100508046, POTEM
(A341T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC100508046, POTEM
(V352I)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
POTEM
(N395S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POTEM
(G423R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POTEM
(P434R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POTEM
(D443N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POTEM
(R450K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POTEM
(S457T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POTEM
(S457N)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
POTEM
(Q458R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF40, BCL2L2
+152 more
Copy number gain
not provided
GPathogenic
ABCD4, ABHD12B
+635 more
Copy number gain
See cases
GPathogenic
OR5AU1, OR6S1
+164 more
Copy number gain
See cases
GPathogenic
ABHD4, ACIN1
+149 more
Copy number gain
See cases
GPathogenic
LOC101929572, OR11H12
+15 more
Duplication
Normal pregnancy
Gnot provided
LOC101929572, OR11H12
+9 more
Duplication
Large for gestational age
Gnot provided
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