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Items: 48

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC115995524, LOC115995525
+2647 more
Copy number gain
See cases
GPathogenic
LOC129937936, LOC129937937
+631 more
Copy number gain
See cases
GPathogenic
LOC123453201, LOC123453202
+1450 more
Copy number gain
See cases
GPathogenic
LOC129938169, LOC129938170
+1318 more
Copy number gain
See cases
GPathogenic
LOC108281160, LOC108281177
+1247 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+1245 more
Copy number gain
See cases
GPathogenic
LOC132088897, LOC132088898
+1201 more
Copy number gain
See cases
GPathogenic
ACTRT3, ARL14
+304 more
Copy number gain
See cases
GPathogenic
ACTL6A, ACTRT3
+306 more
Copy number gain
See cases
GPathogenic
LOC129938260, LOC129938261
+1064 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+627 more
Copy number gain
See cases
GLikely pathogenic
LOC129938077, LOC129938078
+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
MUC20, MUC4
+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
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
FNDC3B, GHSR
+2 more
Copy number gain
See cases
GUncertain significance
ABCC5, ABCF3
+198 more
Copy number gain
See cases
GPathogenic
AADAC, AADACL2
+220 more
Copy number gain
See cases
GPathogenic
ECT2, FNDC3B
+3 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
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