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Items: 75

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130065566, LOC130065567
+2522 more
Copy number gain
See cases
GPathogenic
LOC130065574, LOC130065575
+950 more
Copy number gain
See cases
GPathogenic
LOC130065861, LOC130065862
+568 more
Copy number loss
See cases
GPathogenic
SRC
Single nucleotide variant
(synonymous variant)
not provided
Gnot provided
SRC
(A21T)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
SRC
(G29W)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
SRC
Single nucleotide variant
(intron variant)
not provided
GBenign
SRC
Single nucleotide variant
(intron variant)
not provided
GBenign
SRC
Single nucleotide variant
(intron variant)
not provided
GBenign
SRC
Single nucleotide variant
(intron variant)
not provided
GBenign
SRC
Single nucleotide variant
(intron variant)
not provided
GBenign
SRC
Single nucleotide variant
(intron variant)
not provided
GBenign
SRC
Single nucleotide variant
(intron variant)
not provided
GBenign
SRC
Single nucleotide variant
(intron variant)
not provided
GBenign
SRC
Single nucleotide variant
(intron variant)
not provided
GBenign
SRC
Single nucleotide variant
(intron variant)
not provided
GBenign
SRC
Single nucleotide variant
(intron variant)
not provided
GBenign
SRC
Single nucleotide variant
(intron variant)
not provided
GBenign
SRC
Deletion
(intron variant)
not provided
GBenign
SRC
Insertion
(intron variant)
not provided
GBenign
LOC130065826, SRC
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC130065826, SRC
Duplication
(intron variant)
not provided
GBenign
LOC130065826, SRC
Single nucleotide variant
(intron variant)
not provided
GBenign
SRC, LOC130065826
Deletion
(intron variant)
not provided
GBenign
SRC
(T99M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SRC
(E109D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SRC
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SRC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SRC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SRC
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SRC
(R159W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SRC
Single nucleotide variant
(synonymous variant)
SRC-related condition
GLikely benign
SRC
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
SRC
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SRC
Single nucleotide variant
(synonymous variant)
SRC-related condition
GLikely benign
SRC
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
SRC
Single nucleotide variant
(synonymous variant)
SRC-related condition
GLikely benign
SRC
Single nucleotide variant
(synonymous variant)
not provided
Gnot provided
SRC
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SRC
(R243C)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
SRC
(R271W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SRC
Single nucleotide variant
(synonymous variant)
not provided
Gnot provided
SRC
Single nucleotide variant
(synonymous variant)
SRC-related condition
GLikely benign
SRC
(N290S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SRC
(T292N)
Single nucleotide variant
(missense variant)
SRC-related condition
+2 more
GLikely benign
SRC
(I297T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SRC
(P307S)
Single nucleotide variant
(missense variant)
Thrombocytopenia 6
GUncertain significance
SRC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SRC
(V340I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SRC
Single nucleotide variant
(intron variant)
not provided
GBenign
SRC
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SRC
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SRC
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
SRC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SRC
(N400K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SRC
Single nucleotide variant
(synonymous variant)
not provided
Gnot provided
SRC
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
SRC
Single nucleotide variant
(synonymous variant)
not provided
Gnot provided
SRC
Single nucleotide variant
(synonymous variant)
SRC-related condition
+1 more
GBenign
SRC
Single nucleotide variant
(synonymous variant)
not provided
Gnot provided
SRC
Single nucleotide variant
(intron variant)
not provided
GBenign
SRC
Single nucleotide variant
(synonymous variant)
not provided
Gnot provided
SRC
(R463W)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
SRC
(R480Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SRC
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
SRC
(E492K)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
SRC
(E527K)
Single nucleotide variant
(missense variant)
Thrombocytopenia 6
GLikely pathogenic
SRC
(Q529E)
Single nucleotide variant
(missense variant)
Thrombocytopenia 6
GUncertain significance
SRC
(Q531*)
Single nucleotide variant
(nonsense)
Neoplasm
+1 more
GPathogenic/Likely pathogenic
SRC
Single nucleotide variant
(synonymous variant)
SRC-related condition
GLikely benign
SRC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BLCAP, CTNNBL1
+8 more
Duplication
Aicardi-Goutieres syndrome 5
GUncertain significance
ACOT8, ACTR5
+124 more
Deletion
Focal-onset seizure
GLikely pathogenic
KIF3B, KIZ
+540 more
Copy number gain
See cases
GPathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
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