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Items: 38

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARTN, ATP6V0B
+1226 more
Inversion
Bilateral polymicrogyria
GLikely pathogenic
TAL1
(A309S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TAL1
(D124E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TAL1
Single nucleotide variant
(synonymous variant)
TAL1-related condition
GBenign
TAL1
Single nucleotide variant
(synonymous variant)
TAL1-related condition
GLikely benign
TAL1
(G110S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TAL1
(G267S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TAL1
Single nucleotide variant
(synonymous variant)
TAL1-related condition
GBenign
TAL1
Single nucleotide variant
(synonymous variant)
TAL1-related condition
GLikely benign
TAL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TAL1
(T163I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TAL1
Single nucleotide variant
(synonymous variant)
TAL1-related condition
GLikely benign
TAL1
Single nucleotide variant
(intron variant)
not provided
GBenign
TAL1
Single nucleotide variant
(intron variant)
not provided
GBenign
TAL1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TAL1
(P132R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TAL1
(A131V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TAL1
(A128D)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TAL1
(G114S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TAL1
(A104V)
Single nucleotide variant
(missense variant +1 more)
TAL1-related condition
GLikely benign
TAL1
(A104S)
Single nucleotide variant
(missense variant +1 more)
TAL1-related condition
GLikely benign
TAL1
(V88M)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TAL1
(A71V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TAL1
(A71P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TAL1
(G62R)
Single nucleotide variant
(missense variant +1 more)
TAL1-related condition
GLikely benign
TAL1
(A56S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TAL1
(H30D)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TAL1
(A27G)
Single nucleotide variant
(missense variant +1 more)
TAL1-related condition
GLikely benign
TAL1
(A22T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TAL1
(R11C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TAL1
Microsatellite
(intron variant)
not provided
GBenign
ACOT11, AGBL4
+72 more
Copy number gain
not specified
GLikely pathogenic
AGBL4, AKR1A1
+58 more
Copy number loss
not specified
GLikely pathogenic
A3GALT2, ADPRS
+202 more
Copy number gain
not specified
GPathogenic
AGBL4, BEND5
+28 more
Copy number loss
not provided
GPathogenic
ANGPTL7, C1orf127
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
PADI1, PADI2
+2014 more
Copy number gain
See cases
GPathogenic
NID1, NIPAL3
+2014 more
Copy number gain
See cases
GPathogenic
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