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Items: 1 to 100 of 402

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD3, ACAA2
+1646 more
Copy number gain
See cases
GPathogenic
LOC126862711, LOC126862712
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062667, LOC130062668
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062278, LOC130062279
+1643 more
Copy number gain
See cases
GPathogenic
LOC126862732, LOC126862733
+1643 more
Copy number gain
See cases
GPathogenic
ANKRD12, ANKRD29
+1642 more
Copy number gain
See cases
GPathogenic
SERPINB12, SERPINB13
+1643 more
Copy number gain
See cases
GPathogenic
LOC125368553, LOC125368554
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062355, LOC130062356
+1642 more
Copy number gain
See cases
GPathogenic
LOC126862717, LOC126862718
+1266 more
Copy number gain
See cases
GPathogenic
LOC132090510, LOC132090511
+1089 more
Copy number gain
See cases
GPathogenic
LOC132211113, LOC132211114
+1266 more
Copy number gain
See cases
GPathogenic
LOC110121416, OSBPL1A
+439 more
Deletion
Deletion of long arm of chromosome 18
GPathogenic
LOC130062787, LOC130062788
+1005 more
Copy number gain
See cases
GPathogenic
ACAA2, ALPK2
+596 more
Copy number gain
See cases
GPathogenic
LOC130062694, LOC130062695
+887 more
Copy number gain
See cases
GPathogenic
ARK2C, ARK2N
+147 more
Copy number loss
See cases
GPathogenic
LINC01929, LINC02565
+879 more
Copy number gain
See cases
GPathogenic
SMAD2
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
SMAD2
(S437P +1 more)
Single nucleotide variant
(missense variant)
Neoplasm
OLikely oncogenic
SMAD2
(C433fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
SMAD2
(R432H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMAD2
(R462C +1 more)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 6
+1 more
GUncertain significance
SMAD2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
SMAD2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SMAD2
(S430T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SMAD2
(P429L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMAD2
(P429fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
SMAD2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
SMAD2
(S458T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMAD2
(G457R +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
SMAD2
(T454fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
SMAD2
(D450N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMAD2
(L449S +1 more)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 6
GPathogenic
SMAD2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
SMAD2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
SMAD2
(L412R +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
SMAD2
(H411P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMAD2
(L410F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMAD2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
SMAD2
(P405R +1 more)
Single nucleotide variant
(missense variant)
SMAD2-related disorder
GUncertain significance
SMAD2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
SMAD2
(S403G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMAD2
(S433R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMAD2
(T402A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMAD2
(T402P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMAD2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
SMAD2
(T430M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMAD2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SMAD2
(Q399E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMAD2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SMAD2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SMAD2
Single nucleotide variant
(intron variant)
not provided
GBenign
SMAD2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SMAD2
Single nucleotide variant
(intron variant)
not provided
GBenign
SMAD2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SMAD2
Single nucleotide variant
(intron variant)
not provided
GBenign
SMAD2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SMAD2
Single nucleotide variant
(intron variant)
not provided
GBenign
SMAD2
Single nucleotide variant
(intron variant)
not provided
GBenign
SMAD2
Single nucleotide variant
(intron variant)
not provided
GBenign
SMAD2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SMAD2
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
SMAD2
Single nucleotide variant
(intron variant)
not provided
GBenign
SMAD2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SMAD2
(R427* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
SMAD2
(G391E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMAD2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
SMAD2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
SMAD2
(C382R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMAD2
(Q377P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMAD2
(Y376C +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
SMAD2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
SMAD2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
SMAD2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
SMAD2
(G371R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMAD2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
SMAD2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SMAD2
(A365S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMAD2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
SMAD2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SMAD2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
SMAD2
(A362T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMAD2
(E389G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMAD2
(Q388R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMAD2
(N387K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMAD2
(I354V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMAD2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
SMAD2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SMAD2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SMAD2
Deletion
(intron variant)
not provided
GBenign
SMAD2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SMAD2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SMAD2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SMAD2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SMAD2
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
SMAD2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
SMAD2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
SMAD2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
SMAD2
(N333S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance

Items: 1 to 100 of 402

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