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Links from Gene

Items: 73

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLCB3
(I745T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(R1122W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(G415R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(Q440K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BAD, CATSPERZ
+28 more
Deletion
Multiple endocrine neoplasia, type 1
GPathogenic
PLCB3
(K186R +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
(A114T +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
(Q1028R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(F1034C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(L99V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PLCB3
(C547R +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
(P321A +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
FOLR2, RAB3IL1
+362 more
Copy number gain
not provided
GPathogenic
PLCB3
(A1146T +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PLCB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLCB3
(E497A +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
PLCB3
(L483P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLCB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLCB3
(E502K +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
(E210K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(P641L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(A810T +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
(Q5R)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PLCB3
(Q5K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(S431P +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
(S437C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(V756I +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PLCB3
(Y548C +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
(P1214A +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
(V972M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AHNAK, ARL2
+182 more
Duplication
Leukocyte adhesion deficiency 3
GUncertain significance
PLCB3
(R323C +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
(R1046Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(T55M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PLCB3
(S1040L +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
(E1097D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(V600I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(R871H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(G394C +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
(V554A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(G1135A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(I813T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCB3
(P6L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAML2, MAP3K11
+955 more
Copy number gain
MISSED ABORTION
GPathogenic
PLCB3
(A878S +1 more)
Single nucleotide variant
(missense variant)
Spondylometaphyseal dysplasia with corneal dystrophy
GPathogenic
PLCB3
(S778L +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
PLCB3
(P920H +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
PLCB3
(V739I +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
PLCB3
(E1023D +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
PLCB3
Single nucleotide variant
(intron variant)
not provided
GBenign
PLCB3
Single nucleotide variant
(intron variant)
not provided
GBenign
PLCB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLCB3
(T91M +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PLCB3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PLCB3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
ATG2A, BAD
+74 more
Duplication
Ependymoma
GLikely pathogenic
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
ATL3, BAD
+107 more
Copy number loss
See cases
GLikely pathogenic
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