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Items: 1 to 100 of 2180

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862722, LOC126862723
+1646 more
Copy number gain
See cases
GPathogenic
LINC00683, LINC00907
+1643 more
Copy number gain
See cases
GPathogenic
DTNA, DYM
+1643 more
Copy number gain
See cases
GPathogenic
LINC01478, LINC01538
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062393, LOC130062394
+1643 more
Copy number gain
See cases
GPathogenic
RNF138, RNF152
+1642 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062575, LOC130062576
+1643 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+1642 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+1266 more
Copy number gain
See cases
GPathogenic
SKA1, SKOR2
+1089 more
Copy number gain
See cases
GPathogenic
LOC130062446, LOC130062447
+1266 more
Copy number gain
See cases
GPathogenic
ACAA2, ADNP2
+1005 more
Copy number gain
See cases
GPathogenic
ACAA2, ALPK2
+596 more
Copy number gain
See cases
GPathogenic
ACAA2, ADNP2
+887 more
Copy number gain
See cases
GPathogenic
LOC125371434, LOC125371435
+879 more
Copy number gain
See cases
GPathogenic
ACAA2, ADNP2
+733 more
Copy number gain
See cases
GPathogenic
ADNP2, ALPK2
+706 more
Copy number gain
See cases
GPathogenic
SMAD4
Duplication
Juvenile polyposis syndrome
+1 more
GUncertain significance
SMAD4
Deletion
Juvenile polyposis syndrome
+1 more
GUncertain significance
SMAD4
Deletion
Generalized juvenile polyposis/juvenile polyposis coli
GPathogenic
SMAD4
Deletion
Hereditary cancer-predisposing syndrome
GPathogenic
SMAD4
Single nucleotide variant
(5 prime UTR variant)
Myhre syndrome
+2 more
GUncertain significance
SMAD4
Microsatellite
(5 prime UTR variant)
Juvenile Polyposis
+2 more
GUncertain significance
SMAD4
Single nucleotide variant
(5 prime UTR variant)
Myhre syndrome
+2 more
GUncertain significance
SMAD4
Single nucleotide variant
(5 prime UTR variant)
Myhre syndrome
+2 more
GUncertain significance
SMAD4
Single nucleotide variant
(5 prime UTR variant)
Myhre syndrome
+2 more
GUncertain significance
SMAD4
Single nucleotide variant
(5 prime UTR variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
+2 more
GBenign/Likely benign
SMAD4
Single nucleotide variant
(5 prime UTR variant)
Myhre syndrome
+2 more
GUncertain significance
SMAD4
Single nucleotide variant
(5 prime UTR variant)
Myhre syndrome
+2 more
GUncertain significance
SMAD4
Single nucleotide variant
(5 prime UTR variant)
Myhre syndrome
+2 more
GUncertain significance
SMAD4
Single nucleotide variant
(5 prime UTR variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
+2 more
GUncertain significance
SMAD4
Single nucleotide variant
(5 prime UTR variant)
not specified
GBenign
SMAD4
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
SMAD4
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
SMAD4
Insertion
(intron variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
SMAD4
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
SMAD4
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
GLikely benign
SMAD4
Single nucleotide variant
(intron variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
+3 more
GConflicting classifications of pathogenicity
SMAD4
Deletion
(intron variant)
not specified
GLikely benign
SMAD4
Indel
(intron variant)
not specified
GLikely benign
SMAD4
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SMAD4
Microsatellite
(intron variant)
not provided
GBenign
SMAD4
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
GLikely benign
SMAD4
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
GLikely benign
SMAD4
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
GLikely benign
SMAD4
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
GLikely benign
SMAD4
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
GLikely benign
SMAD4
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
GLikely benign
SMAD4
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
GLikely benign
SMAD4
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
GLikely benign
SMAD4
Single nucleotide variant
(intron variant)
not provided
GBenign
SMAD4
Single nucleotide variant
(intron variant)
not provided
GBenign
SMAD4
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
GLikely benign
SMAD4
Single nucleotide variant
(intron variant)
not provided
GBenign
SMAD4
Single nucleotide variant
(intron variant)
not provided
GBenign
SMAD4
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
SMAD4
Single nucleotide variant
(5 prime UTR variant)
Myhre syndrome
+2 more
GUncertain significance
SMAD4
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
SMAD4
Single nucleotide variant
(5 prime UTR variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
+4 more
GUncertain significance
SMAD4
Deletion
(5 prime UTR variant)
not specified
GLikely benign
SMAD4
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
SMAD4
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
SMAD4
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GLikely benign
SMAD4
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GLikely benign
SMAD4
Deletion
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
SMAD4
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
SMAD4
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
SMAD4
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
SMAD4
Single nucleotide variant
(5 prime UTR variant)
Generalized juvenile polyposis/juvenile polyposis coli
GUncertain significance
SMAD4
Deletion
(5 prime UTR variant +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GUncertain significance
SMAD4
(M1fs)
Deletion
(frameshift variant +1 more)
not specified
+3 more
GUncertain significance
SMAD4
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
SMAD4
Single nucleotide variant
(5 prime UTR variant)
not specified
+4 more
GUncertain significance
SMAD4
Single nucleotide variant
(5 prime UTR variant)
Generalized juvenile polyposis/juvenile polyposis coli
+2 more
GUncertain significance
SMAD4
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
SMAD4
Duplication
Generalized juvenile polyposis/juvenile polyposis coli
GLikely benign
SMAD4
(M1V)
Single nucleotide variant
(missense variant +1 more)
Juvenile polyposis syndrome
+1 more
GUncertain significance
SMAD4
(M1T)
Single nucleotide variant
(missense variant +1 more)
Juvenile polyposis syndrome
+2 more
GUncertain significance
SMAD4
(M1I)
Single nucleotide variant
(missense variant +1 more)
Juvenile polyposis syndrome
GUncertain significance
SMAD4
(M1I)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SMAD4
(D2H)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
GUncertain significance
SMAD4
(D2N)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
SMAD4
(D2A)
Single nucleotide variant
(missense variant +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
+1 more
GUncertain significance
SMAD4
Single nucleotide variant
(synonymous variant)
Juvenile polyposis syndrome
GLikely benign
SMAD4
(N3S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
SMAD4
(M4fs)
Microsatellite
(frameshift variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
SMAD4
Single nucleotide variant
(synonymous variant)
Juvenile polyposis syndrome
+3 more
GLikely benign
SMAD4
(M4T)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
GUncertain significance
SMAD4
(S5C)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
SMAD4
Single nucleotide variant
(synonymous variant +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GLikely benign
SMAD4
(I6V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SMAD4
(I6T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SMAD4
Single nucleotide variant
(synonymous variant)
Juvenile polyposis syndrome
GLikely benign
SMAD4
(T7R)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
GUncertain significance
SMAD4
(T7M)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+9 more
GConflicting classifications of pathogenicity
SMAD4
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GLikely benign
SMAD4
Single nucleotide variant
(synonymous variant)
Generalized juvenile polyposis/juvenile polyposis coli
+8 more
GConflicting classifications of pathogenicity
SMAD4
(N8fs)
Deletion
(frameshift variant)
Juvenile polyposis syndrome
GPathogenic
SMAD4
(N8S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GUncertain significance
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