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Items: 68

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATL3, BAD
+107 more
Copy number loss
See cases
GLikely pathogenic
PLCB3
(Q5K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(Q5R)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PLCB3
(P6L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
Single nucleotide variant
(intron variant)
not provided
GBenign
PLCB3
(T55M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PLCB3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
PLCB3
(L99V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PLCB3
(T91M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
PLCB3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PLCB3
(A114T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(R118W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(A189V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(K186R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(P198L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(E210K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(P255S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(P321A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(R323C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(D324N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLCB3
(G394C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(R470Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(S431P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(E502K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(S437C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(K462N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(Y548C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(L483P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLCB3
(E497A +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
PLCB3
(C547R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(V554A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLCB3
(V600I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
Single nucleotide variant
(intron variant)
not provided
GBenign
PLCB3
(P641L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(V739I +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
PLCB3
(V756I +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PLCB3
(S778L +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
PLCB3
(A810T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(A878S +1 more)
Single nucleotide variant
(missense variant)
Spondylometaphyseal dysplasia with corneal dystrophy
GPathogenic
PLCB3
(I813T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(P837L +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PLCB3
(P920H +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
PLCB3
(R871H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(I942L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(E1023D +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
PLCB3
(F1034C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(V972M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(R1046Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(Q1079E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(Q1028R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(S1040L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(E1097D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLCB3
(G1135A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(C1140W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(A1146T +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PLCB3
(P1214A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTN3, ACY3
+343 more
Copy number gain
not specified
GLikely pathogenic
BAD, CATSPERZ
+29 more
Copy number loss
not provided
GUncertain significance
ACTN3, ACY3
+362 more
Copy number gain
not provided
GPathogenic
AHNAK, ARL2
+182 more
Duplication
Leukocyte adhesion deficiency 3
GUncertain significance
GRIA4, GRIK4
+956 more
Copy number gain
MISSED ABORTION
GPathogenic
ACER3, ACP2
+904 more
Deletion
Intellectual disability
GPathogenic
ARL2, ATG2A
+74 more
Duplication
Ependymoma
GLikely pathogenic
ACP2, CREBZF
+1289 more
Copy number gain
See cases
GPathogenic
GALNT18, MPZL3
+1289 more
Copy number gain
See cases
GPathogenic
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