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Items: 1 to 100 of 895

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC112533659, LOC112533660
+2032 more
Copy number gain
See cases
GPathogenic
AARSD1, AATF
+1753 more
Copy number gain
See cases
GPathogenic
AARSD1, ACBD4
+633 more
Copy number gain
See cases
GPathogenic
SMARCE1
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
SMARCE1
Duplication
Familial meningioma
GUncertain significance
SMARCE1
Single nucleotide variant
(synonymous variant)
Familial meningioma
+1 more
GLikely benign
SMARCE1
Insertion
(inframe_insertion)
Familial meningioma
GUncertain significance
SMARCE1
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
SMARCE1
(E411K)
Single nucleotide variant
(missense variant)
Familial meningioma
+2 more
GConflicting classifications of pathogenicity
SMARCE1
(E411*)
Single nucleotide variant
(nonsense)
Familial meningioma
+3 more
GBenign/Likely benign
SMARCE1
Single nucleotide variant
(synonymous variant)
Familial meningioma
+1 more
GLikely benign
SMARCE1
(K409I)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(K409R)
Single nucleotide variant
(missense variant)
Familial meningioma
+1 more
GConflicting classifications of pathogenicity
SMARCE1
(E408K)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
SMARCE1
(D407V)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(D407G)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
SMARCE1
(D407Y)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(D407N)
Single nucleotide variant
(missense variant)
Familial meningioma
+1 more
GUncertain significance
SMARCE1
(E406A)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
SMARCE1
(P405L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
SMARCE1
(P405S)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(P405A)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
SMARCE1
(I404M)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
SMARCE1
(I404K)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(I404T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
SMARCE1
(I404V)
Single nucleotide variant
(missense variant)
Familial meningioma
+2 more
GConflicting classifications of pathogenicity
SMARCE1
Single nucleotide variant
(synonymous variant)
Familial meningioma
+1 more
GLikely benign
SMARCE1
(P403A)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
SMARCE1
(D402N)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
SMARCE1
(T401I)
Single nucleotide variant
(missense variant)
Familial meningioma
+1 more
GUncertain significance
SMARCE1
Single nucleotide variant
(synonymous variant)
Familial meningioma
GLikely benign
SMARCE1
(P400A)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(P400S)
Single nucleotide variant
(missense variant)
Familial meningioma
+1 more
GConflicting classifications of pathogenicity
SMARCE1
(P399L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
SMARCE1
(P399A)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SMARCE1
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
SMARCE1
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
SMARCE1
(V396M)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
SMARCE1
(V396L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
SMARCE1
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
SMARCE1
(T395A)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
SMARCE1
(A394T)
Single nucleotide variant
(missense variant)
Familial meningioma
+1 more
GConflicting classifications of pathogenicity
SMARCE1
Single nucleotide variant
(synonymous variant)
Familial meningioma
GLikely benign
SMARCE1
(S393G)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
SMARCE1
(N392S)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(N392D)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
Single nucleotide variant
(synonymous variant)
Familial meningioma
+2 more
GLikely benign
SMARCE1
(S391N)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(S391T)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(S391G)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(E390D)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
SMARCE1
Single nucleotide variant
(synonymous variant)
SMARCE1-related disorder
+2 more
GLikely benign
SMARCE1
(S389W)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(S389L)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(S389P)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
Single nucleotide variant
(synonymous variant)
Familial meningioma
+1 more
GLikely benign
SMARCE1
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
SMARCE1
(G388D)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(T387I)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
SMARCE1
(T387P)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
SMARCE1
Single nucleotide variant
(synonymous variant)
Familial meningioma
+1 more
GLikely benign
SMARCE1
(N386D)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(S385R)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
SMARCE1
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
SMARCE1
(S383T)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(S383N)
Single nucleotide variant
(missense variant)
Familial meningioma
+1 more
GUncertain significance
SMARCE1
(S383R)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(S383G)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
SMARCE1
Single nucleotide variant
(synonymous variant)
Familial meningioma
GLikely benign
SMARCE1
(T382S)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(T382I)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
SMARCE1
(T382A)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
Single nucleotide variant
(synonymous variant)
Familial meningioma
+1 more
GLikely benign
SMARCE1
(G381E)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(E379fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
SMARCE1
(A378V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
SMARCE1
(M377T)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(M377V)
Single nucleotide variant
(missense variant)
Familial meningioma
+2 more
GConflicting classifications of pathogenicity
SMARCE1
(S376R)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(S376G)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
Single nucleotide variant
(synonymous variant)
SMARCE1-related disorder
+2 more
GLikely benign
SMARCE1
(D375N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SMARCE1
Single nucleotide variant
(synonymous variant)
Familial meningioma
GLikely benign
SMARCE1
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
SMARCE1
(V374A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SMARCE1
(V374fs)
Deletion
(frameshift variant)
Familial meningioma
GUncertain significance
SMARCE1
(V374L)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(G373R)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(E372G)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(E372V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
SMARCE1
(E372A)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
Single nucleotide variant
(synonymous variant)
Familial meningioma
+1 more
GLikely benign
SMARCE1
(G370E)
Single nucleotide variant
(missense variant)
Familial meningioma
+1 more
GUncertain significance
SMARCE1
(G370V)
Single nucleotide variant
(missense variant)
Familial meningioma
+1 more
GUncertain significance
SMARCE1
(G370R)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(S369N)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
SMARCE1
(S369T)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
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