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Items: 58

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130060510, LOC130060511
+30 more
Copy number gain
See cases
GLikely benign
KSR1, LOC105371703
+28 more
Copy number gain
See cases
GUncertain significance
KSR1
(R149H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KSR1
(C13R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KSR1
(C13Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KSR1
(G158S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KSR1
(S47R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KSR1
(A188V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KSR1
(S75R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KSR1
(R226S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KSR1
(H129Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KSR1
(R141Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KSR1
(R279Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KSR1
(R150Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KSR1
(P291L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KSR1
(P154Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KSR1
(R294H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KSR1
(R171Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KSR1
(I320L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KSR1
(G206R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KSR1
(E84K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KSR1
(L106P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KSR1
(A460V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KSR1
(P398L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KSR1
(L178V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KSR1
(P515S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KSR1
(D188N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KSR1
(P177L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KSR1
(A544S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KSR1
(D222N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KSR1
(R567Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KSR1
(D585N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KSR1
(G262R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KSR1
(G273S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KSR1
(H558Y +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KSR1
(V367I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KSR1
(G380R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KSR1
(N395K +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KSR1
(L413V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KSR1
(T766N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KSR1
(R469C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KSR1
(R483H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KSR1
(D505N +3 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
KSR1
(K510R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAM222B, FLOT2
+41 more
Copy number gain
Developmental delay with or without intellectual impairment or behavioral abnormalities
GUncertain significance
ABHD15, ALDOC
+49 more
Copy number gain
not specified
GPathogenic
NOS2, NLK
+3 more
Copy number gain
not provided
GUncertain significance
KSR1, LGALS9
+3 more
Copy number gain
not provided
GUncertain significance
ABHD15, ALDOC
+49 more
Copy number gain
not provided
GPathogenic
AATF, ABHD15
+201 more
Copy number gain
not provided
GPathogenic
ABHD15, ADAP2
+80 more
Copy number gain
not provided
GLikely pathogenic
WSB1, KSR1
Copy number gain
not provided
GUncertain significance
LYRM9, MIR144
+72 more
Copy number loss
Mitogen-activated protein kinase kinase inhibitor response
Gdrug response
KSR1, WSB1
Copy number gain
See cases
GLikely benign
ALOX12, ALOX12B
+1143 more
Copy number gain
See cases
GPathogenic
SPEM2, TBCD
+1143 more
Copy number gain
See cases
GPathogenic
KSR1, LGALS9
+1 more
Copy number gain
See cases
GLikely benign
MTRNR2L1, TMEM97
+9 more
Copy number gain
See cases
GUncertain significance
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