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Items: 88

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130064822, LOC130064823
+290 more
Copy number gain
See cases
GPathogenic
LOC130064925, LOC130064926
+1081 more
Copy number gain
See cases
GPathogenic
LOC130064903, LOC130064904
+1093 more
Copy number gain
See cases
GPathogenic
BCAT2, CA11
+45 more
Copy number gain
See cases
GUncertain significance
SPHK2
(H4N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SPHK2
(L5P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SPHK2
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
SPHK2
(S22R)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SPHK2
(G26A)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SPHK2
(M1T +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SPHK2
(A38T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SPHK2
(P6L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SPHK2
(P13L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SPHK2
(G26S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SPHK2
(R28C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SPHK2
(T70I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SPHK2
(S71L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SPHK2
(I17L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SPHK2
(R42Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SPHK2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SPHK2
(R29W +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SPHK2
(R52Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SPHK2
(P34A +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SPHK2
(S62T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SPHK2
(R104Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SPHK2
(R47H +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SPHK2
(R92W +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SPHK2
(R129H +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SPHK2
(A105S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SPHK2
(E144K +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SPHK2
(E113K +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
SPHK2
(Q115P +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SPHK2
(G109R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SPHK2
(R179Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SPHK2
(R182Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SPHK2
(L127F +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SPHK2
(R157Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SPHK2
(T243M +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPHK2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPHK2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SPHK2
(L214F +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPHK2
(G256R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPHK2
(V212M +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPHK2
(A222T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPHK2
(Q82H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPHK2
(A236V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPHK2
(G107S +3 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SPHK2
(G120V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPHK2
(S268F +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPHK2
(R122H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPHK2
(A161T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPHK2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SPHK2
(P201S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPHK2
(P350L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPHK2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPHK2
(H381L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPHK2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPHK2
(L410V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPHK2
(P408R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPHK2
(G489A +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPHK2
(A284V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPHK2
(P436L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPHK2
(T503I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPHK2
(P468S +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SPHK2
(A300S +3 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
SPHK2
(G303R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPHK2
(G308C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPHK2
(D324E +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SPHK2
(S339L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPHK2
(V518L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPHK2
Single nucleotide variant
(synonymous variant)
EBV-positive nodal T- and NK-cell lymphoma
GLikely benign
SPHK2
(V512L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPHK2
(V365L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPHK2
(M381I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPHK2
(F549C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPHK2
(G617S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPHK2
(A574T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPHK2
(M429T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPHK2
(P448H +3 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
ACP4, ADM5
+118 more
Copy number gain
not specified
GLikely pathogenic
PPP1R15A, PPP2R1A
+308 more
Copy number gain
not provided
GPathogenic
BCAT2, CA11
+26 more
Copy number gain
not provided
GLikely pathogenic
GRIN2D, GRWD1
+228 more
Copy number gain
not provided
Gnot provided
C5AR1, C5AR2
+293 more
Copy number gain
not provided
GPathogenic
HSD17B14, IZUMO1
+58 more
Copy number gain
not provided
GUncertain significance
ZNF607, ZNF780A
+432 more
Copy number gain
not provided
GPathogenic
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
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