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Items: 1 to 100 of 448

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATAD1, ACTA2
+151 more
Copy number gain
See cases
GPathogenic
ACTA2, ACTA2-AS1
+21 more
Copy number gain
See cases
GUncertain significance
ACTA2, FAS
+1 more
Single nucleotide variant
(intron variant)
not specified
GBenign
ACTA2, FAS
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 1
GBenign
ACTA2, FAS
Deletion
(intron variant)
Multisystemic smooth muscle dysfunction syndrome
+3 more
GLikely benign
ACTA2, FAS
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GLikely benign
ACTA2, FAS
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GUncertain significance
ACTA2, FAS
Single nucleotide variant
(intron variant)
Multisystemic smooth muscle dysfunction syndrome
+3 more
GLikely benign
ACTA2, FAS
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
ACTA2, FAS
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GUncertain significance
ACTA2, FAS
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GBenign/Likely benign
ACTA2, FAS
Single nucleotide variant
(5 prime UTR variant +2 more)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GBenign/Likely benign
ACTA2, FAS
Single nucleotide variant
(5 prime UTR variant +2 more)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GUncertain significance
ACTA2, FAS
Single nucleotide variant
(synonymous variant +2 more)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
ACTA2, FAS
(W5C)
Single nucleotide variant
(missense variant +2 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
ACTA2, FAS
(L7P)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GLikely pathogenic
ACTA2, FAS
Single nucleotide variant
(synonymous variant +2 more)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
ACTA2, FAS
Single nucleotide variant
(intron variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
+1 more
GConflicting classifications of pathogenicity
ACTA2, FAS
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
ACTA2, FAS
Duplication
(5 prime UTR variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
ACTA2, FAS
Single nucleotide variant
(5 prime UTR variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GBenign
ACTA2, FAS
Single nucleotide variant
(5 prime UTR variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
ACTA2, FAS
Single nucleotide variant
(5 prime UTR variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GBenign
ACTA2, FAS
Single nucleotide variant
(5 prime UTR variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
ACTA2, FAS
+1 more
Single nucleotide variant
(synonymous variant +2 more)
not specified
+1 more
GBenign
ACTA2, FAS
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GBenign
FAS
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FAS
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
(V11A +1 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
Single nucleotide variant
(synonymous variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FAS
Single nucleotide variant
(synonymous variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GBenign
FAS
(T13K +1 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
(T13M)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
+1 more
GUncertain significance
FAS
(T13fs)
Deletion
(frameshift variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GPathogenic
FAS
Single nucleotide variant
(synonymous variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FAS
Deletion
(nonsense +1 more)
Autoimmune lymphoproliferative syndrome type 1
+1 more
GPathogenic
FAS
(A16T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign/Likely benign
FAS
(S19P +1 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
(S19L +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
Single nucleotide variant
(non-coding transcript variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FAS
Single nucleotide variant
(synonymous variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FAS
(V23I +1 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
+1 more
GUncertain significance
FAS
(A25T)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome, type 1a
GPathogenic
FAS
(Q26R)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
Single nucleotide variant
(synonymous variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GBenign/Likely benign
FAS
(V27M)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
Single nucleotide variant
(synonymous variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
Single nucleotide variant
(synonymous variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FAS
(S32Y)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
(K33Q)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
(K33E)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
(K33T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FAS
Single nucleotide variant
(synonymous variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FAS
(L35M +1 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GBenign/Likely benign
FAS
(L35W)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
(L37*)
Single nucleotide variant
(nonsense +1 more)
Autoimmune lymphoproliferative syndrome type 1
GPathogenic
FAS
(K54* +1 more)
Single nucleotide variant
(nonsense +1 more)
Autoimmune lymphoproliferative syndrome type 1
GPathogenic
FAS
(T46P +1 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
(Q47R +1 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
+1 more
GConflicting classifications of pathogenicity
FAS
Single nucleotide variant
(synonymous variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
+1 more
GBenign
FAS
Single nucleotide variant
(synonymous variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FAS
Single nucleotide variant
(synonymous variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FAS
Duplication
(inframe_insertion +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
FAS
(H54R)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
Single nucleotide variant
(synonymous variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FAS
(D55H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
FAS
Single nucleotide variant
(synonymous variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FAS
(C74S +1 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
(C59F)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
(H60fs)
Deletion
(frameshift variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GPathogenic
FAS
(H60R)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
(K61fs)
Insertion
(frameshift variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GPathogenic
FAS
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GBenign
FAS
(P62R)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
(C78R +1 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
(P64fs)
Deletion
(frameshift variant +1 more)
not provided
GLikely pathogenic
FAS
Single nucleotide variant
(synonymous variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
Duplication
(splice donor variant)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FAS
Single nucleotide variant
(intron variant)
not provided
GBenign
FAS
Single nucleotide variant
(intron variant)
not provided
GBenign
FAS
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
FAS
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FAS
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FAS
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FAS
Single nucleotide variant
(intron variant)
FAS-related disorder
+1 more
GLikely benign
FAS
Single nucleotide variant
(splice acceptor variant)
Autoimmune lymphoproliferative syndrome type 1
GLikely pathogenic
FAS
Single nucleotide variant
(splice acceptor variant)
Autoimmune lymphoproliferative syndrome type 1
GLikely pathogenic
FAS
(R83S +1 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
Single nucleotide variant
(synonymous variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FAS
(C73G)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
(C73S)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign
FAS
(N76H +1 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
(D78fs)
Deletion
(frameshift variant +1 more)
Autoimmune lymphoproliferative syndrome, type 1a
GPathogenic
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