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Items: 48

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129937268, LOC129937269
+2645 more
Copy number gain
See cases
GPathogenic
LOC129937944, LOC129937945
+630 more
Copy number gain
See cases
GPathogenic
BDH1, C3orf33
+1449 more
Copy number gain
See cases
GPathogenic
LOC129938007, LOC129938008
+1317 more
Copy number gain
See cases
GPathogenic
LOC129938312, LOC129938313
+1246 more
Copy number gain
See cases
GPathogenic
LOC129937897, LOC129937898
+1244 more
Copy number gain
See cases
GPathogenic
LOC129938023, LOC129938024
+1200 more
Copy number gain
See cases
GPathogenic
ACTRT3, ARL14
+303 more
Copy number gain
See cases
GPathogenic
ACTL6A, ACTRT3
+306 more
Copy number gain
See cases
GPathogenic
LOC129938326, LOC129938327
+1064 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+627 more
Copy number gain
See cases
GLikely pathogenic
LOC129938320, LOC129938321
+1041 more
Copy number gain
See cases
GPathogenic
LOC112935909, LOC112935910
+35 more
Copy number loss
See cases
GLikely pathogenic
TNFSF10
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
TNFSF10
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GBenign
TNFSF10
(N253S)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
TNFSF10
(I242M)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
TNFSF10
(D203E)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
TNFSF10
(Y189D)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
TNFSF10
(E178G)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
TNFSF10
(N152K)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
TNFSF10
(K145T)
Single nucleotide variant
(synonymous variant +2 more)
not specified
GUncertain significance
TNFSF10
(R115T)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
TNFSF10
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC129937929, TNFSF10
Copy number loss
See cases
GBenign
TNFSF10
(V103I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TNFSF10
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TNFSF10
(S50F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TNFSF10
Single nucleotide variant
(intron variant)
not provided
GBenign
TNFSF10
Single nucleotide variant
(intron variant)
not provided
GBenign
TNFSF10
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
TNFSF10
(V33I)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
TNFSF10
(S28T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TNFSF10
(G9A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ECT2, FNDC3B
+5 more
Copy number gain
not provided
GUncertain significance
AADAC, AADACL2
+286 more
Duplication
not provided
GPathogenic
ACTRT3, CLDN11
+25 more
Duplication
Fanconi-Bickel syndrome
GUncertain significance
CCDC50, MELTF
+155 more
Copy number gain
Isolated anorectal malformation
GLikely pathogenic
ACTL6A, ACTRT3
+79 more
Copy number gain
not specified
GPathogenic
ACTL6A, ACTRT3
+40 more
Copy number gain
not provided
GLikely pathogenic
FXR1, HTR3D
+113 more
Copy number gain
not provided
GPathogenic
ECT2, FNDC3B
+5 more
Copy number gain
not provided
GUncertain significance
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
CMTM6, CMTM7
+1054 more
Copy number gain
See cases
GPathogenic
FNDC3B, GHSR
+2 more
Copy number gain
See cases
GUncertain significance
LRRC31, MCCC1
+198 more
Copy number gain
See cases
GPathogenic
PTX3, MIR1224
+220 more
Copy number gain
See cases
GPathogenic
ECT2, FNDC3B
+3 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
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