U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 1525

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
ADGRE2, ADGRE3
+180 more
Copy number loss
See cases
GPathogenic
ABHD8, ADGRE2
+695 more
Copy number gain
See cases
GPathogenic
ADGRE2, ADGRE3
+237 more
Copy number loss
See cases
GPathogenic
LOC130063788, LOC130063789
+77 more
Copy number loss
See cases
GUncertain significance
LOC130063834, LOC130063835
+105 more
Copy number loss
Chromosome 19p13.13 deletion syndrome
GPathogenic
ILVBL, ILVBL-AS1
+4 more
Copy number loss
See cases
GUncertain significance
ABHD8, AKAP8
+574 more
Copy number gain
See cases
GPathogenic
NOTCH3
Single nucleotide variant
(3 prime UTR variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
GLikely benign
NOTCH3
Single nucleotide variant
(3 prime UTR variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
GBenign
NOTCH3
Single nucleotide variant
(3 prime UTR variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
GBenign
NOTCH3
Single nucleotide variant
(3 prime UTR variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
GBenign
NOTCH3
Single nucleotide variant
(3 prime UTR variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
GBenign
NOTCH3
Single nucleotide variant
(3 prime UTR variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
GUncertain significance
NOTCH3
Single nucleotide variant
(3 prime UTR variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
GBenign
NOTCH3
Single nucleotide variant
(3 prime UTR variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
GUncertain significance
NOTCH3
Single nucleotide variant
(3 prime UTR variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
GUncertain significance
NOTCH3
Single nucleotide variant
(3 prime UTR variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
GLikely benign
NOTCH3
Single nucleotide variant
(3 prime UTR variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
GBenign
NOTCH3
Single nucleotide variant
(3 prime UTR variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
GUncertain significance
NOTCH3
Single nucleotide variant
(3 prime UTR variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
GBenign
NOTCH3
Single nucleotide variant
(3 prime UTR variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
GUncertain significance
NOTCH3
Single nucleotide variant
(3 prime UTR variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
GBenign
NOTCH3
Duplication
(3 prime UTR variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
GUncertain significance
NOTCH3
Single nucleotide variant
(3 prime UTR variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
GBenign
NOTCH3
Single nucleotide variant
(3 prime UTR variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
+2 more
GUncertain significance
NOTCH3
Deletion
(3 prime UTR variant)
not provided
GLikely benign
NOTCH3
Single nucleotide variant
(3 prime UTR variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
GUncertain significance
NOTCH3
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GLikely benign
NOTCH3
Single nucleotide variant
(3 prime UTR variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
GBenign
NOTCH3
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
NOTCH3
Single nucleotide variant
(3 prime UTR variant)
not specified
+1 more
GBenign
NOTCH3
Single nucleotide variant
(3 prime UTR variant)
not specified
+1 more
GBenign/Likely benign
NOTCH3
(P2311L)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
NOTCH3
(Q2310*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
NOTCH3
(P2309R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NOTCH3
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NOTCH3
(T2305A)
Single nucleotide variant
(missense variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
GUncertain significance
NOTCH3
(Q2302R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH3
(Q2302*)
Single nucleotide variant
(nonsense)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
GUncertain significance
NOTCH3
Single nucleotide variant
(synonymous variant)
NOTCH3-related disorder
GLikely benign
NOTCH3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NOTCH3
(T2284S)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
NOTCH3
(T2283I)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
NOTCH3
(M2280V)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
NOTCH3
(G2278E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NOTCH3
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
NOTCH3
(T2270M)
Single nucleotide variant
(missense variant)
Myofibromatosis, infantile, 2
+4 more
GBenign/Likely benign
NOTCH3
(E2268K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NOTCH3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NOTCH3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NOTCH3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NOTCH3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
NOTCH3
(S2257N)
Single nucleotide variant
(missense variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
GUncertain significance
NOTCH3
(A2256V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH3
(A2256G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH3
(A2256S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NOTCH3
(P2252L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NOTCH3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
NOTCH3
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
NOTCH3
(Y2244*)
Single nucleotide variant
(nonsense)
Lateral meningocele syndrome
GPathogenic
NOTCH3
(F2235fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
NOTCH3
(P2243S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH3
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NOTCH3
(R2237L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH3
(R2237W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH3
(R2237G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
NOTCH3
(R2234H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH3
(R2234C)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
NOTCH3
(K2232E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH3
(A2233fs)
Duplication
(frameshift variant)
Lateral meningocele syndrome
+1 more
GPathogenic
NOTCH3
(P2231fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
NOTCH3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NOTCH3
(H2227Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
NOTCH3
(H2227Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH3
(A2223V)
Indel
(missense variant)
not provided
GLikely benign
NOTCH3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NOTCH3
(A2223V)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
NOTCH3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NOTCH3
(P2222L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH3
(Y2221*)
Single nucleotide variant
(nonsense)
Lateral meningocele syndrome
+1 more
GPathogenic
NOTCH3
(E2219K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NOTCH3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
NOTCH3
(P2215A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NOTCH3
(P2215T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NOTCH3
(Y2211*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
NOTCH3
(Y2211C)
Single nucleotide variant
(missense variant)
not specified
GConflicting classifications of pathogenicity
NOTCH3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NOTCH3
(P2210fs)
Duplication
(frameshift variant)
Lateral meningocele syndrome
GPathogenic
NOTCH3
(P2209L)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
NOTCH3
(R2207Q)
Single nucleotide variant
(missense variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
GUncertain significance
NOTCH3
(R2207W)
Single nucleotide variant
(missense variant)
NOTCH3-related disorder
+5 more
GConflicting classifications of pathogenicity
NOTCH3
Single nucleotide variant
(synonymous variant)
NOTCH3-related disorder
GLikely benign
NOTCH3
(P2204L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
NOTCH3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NOTCH3
(T2200S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NOTCH3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NOTCH3
Duplication
(inframe_insertion)
not provided
GUncertain significance
NOTCH3
(P2193H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
Format
Items per page
Sort by
Choose Destination