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Items: 1 to 100 of 133

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCB8, ABCF2
+19 more
Deletion
Long QT syndrome
GPathogenic
ABCB8, ABCF2
+125 more
Copy number gain
See cases
GPathogenic
CDK5
(R120C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABCB8, ABCF2
+165 more
Copy number gain
not specified
GPathogenic
LOC100134040, LRRC61
+40 more
Copy number loss
not specified
GPathogenic
CDK5
Single nucleotide variant
(synonymous variant)
CDK5-related disorder
GLikely benign
CDK5
Single nucleotide variant
(3 prime UTR variant)
CDK5-related disorder
GBenign
CDK5
Single nucleotide variant
(synonymous variant)
CDK5-related disorder
GLikely benign
CDK5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDK5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDK5
Single nucleotide variant
(intron variant)
not provided
GBenign
CDK5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDK5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDK5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDK5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDK5
Single nucleotide variant
(intron variant)
not provided
GBenign
CDK5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TMEM176B, ZNF425
+49 more
Copy number loss
not provided
GPathogenic
INSIG1, PDIA4
+80 more
Copy number loss
not provided
GPathogenic
CLCN1, RHEB
+123 more
Copy number loss
not provided
GPathogenic
ARHGEF35, KEL
+169 more
Copy number loss
not provided
GPathogenic
CDK5
(R50Q)
Single nucleotide variant
(missense variant)
Lissencephaly 7 with cerebellar hypoplasia
GUncertain significance
CDK5
(R120H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABCB8, ABCF2
+125 more
Copy number loss
not provided
GPathogenic
LOC129999716, LOC129999717
+847 more
Copy number gain
Neurodevelopmental disorder
GLikely pathogenic
EPHA1-AS1, EPHB6
+888 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
ABCB8, ABCF2
+31 more
Deletion
not provided
GPathogenic
ABCB8, ABCF2
+19 more
Deletion
Lethal congenital glycogen storage disease of heart
GUncertain significance
ABCB8, ABCF2
+30 more
Duplication
not provided
GUncertain significance
ABCB8, ABCF2
+30 more
Deletion
not provided
GPathogenic
CDK5
(N121S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDK5
(T181M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK5
(G106A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDK5
(P240L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDK5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDK5
(M198V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CDK5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDK5
Single nucleotide variant
(intron variant)
not provided
GBenign
CDK5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDK5
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CDK5
Deletion
(intron variant)
not provided
GBenign
CDK5
Deletion
(intron variant)
not provided
GBenign
CDK5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDK5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDK5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDK5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDK5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDK5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDK5
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CDK5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDK5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCB8, ABCF2
+40 more
Copy number loss
not provided
GPathogenic
AASS, ABCA13
+896 more
Copy number loss
See cases
GUncertain significance
CACNA2D1, CADPS2
+896 more
Complex
Ring chromosome 7
GPathogenic
CDK5
Duplication
(intron variant)
not provided
GBenign
CDK5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDK5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDK5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDK5
Single nucleotide variant
(intron variant)
not provided
GBenign
CDK5
Single nucleotide variant
(intron variant)
not provided
GBenign
CDK5
Single nucleotide variant
(intron variant)
not provided
GBenign
CDK5
(V220M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTR3C, AGAP3
+65 more
Copy number loss
not provided
GPathogenic
CUL1, DNAJB6
+80 more
Copy number gain
not provided
GPathogenic
ABCB8, ABCF2
+186 more
Copy number gain
not provided
GPathogenic
ACTR3C, ABCB8
+75 more
Copy number gain
not provided
GPathogenic
ABCB8, ABCF2
+72 more
Copy number loss
not provided
GPathogenic
ABCF2, AGAP3
+19 more
Copy number loss
Kleefstra syndrome 2
GPathogenic
RHEB, SLC4A2
+19 more
Deletion
Long QT syndrome
GPathogenic
RHEB, SLC4A2
+23 more
Duplication
Long QT syndrome
GUncertain significance
ABCB8, ABCF2
+96 more
Copy number gain
not provided
Gnot provided
ABCB8, AOC1
+17 more
Deletion
Long QT syndrome
GPathogenic
RHEB, SLC4A2
+19 more
Duplication
Long QT syndrome
GUncertain significance
ABCB8, ABCF2
+190 more
Copy number loss
See cases
GPathogenic
NOM1, NOS3
+80 more
Copy number loss
not provided
GPathogenic
CHRM2, KRBA1
+295 more
Copy number gain
not provided
GPathogenic
CDK5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDK5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDK5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDK5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDK5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDK5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
OR2A25, OR2A42
+192 more
Copy number gain
not provided
GPathogenic
PRSS1, PRSS37
+896 more
Copy number gain
not provided
GPathogenic
ABCB8, ABCF2
+40 more
Copy number gain
not provided
GUncertain significance
ABCB8, ABCF2
+229 more
Copy number gain
not provided
GPathogenic
AASS, ABCB8
+436 more
Copy number gain
not provided
GPathogenic
ABCB8, ABCF2
+143 more
Copy number loss
not provided
GPathogenic
ABCF2, ABCB8
+19 more
Deletion
Long QT syndrome
GPathogenic
ABCB8, ABCF2
+162 more
Copy number loss
See cases
GPathogenic
AVL9, AZGP1
+896 more
Copy number gain
See cases
GPathogenic
MCM7, MDFIC
+896 more
Copy number gain
See cases
GPathogenic
ABCB8, ABCF2
+138 more
Copy number loss
See cases
GPathogenic
ACTR3B, AGAP3
+43 more
Copy number gain
See cases
GLikely pathogenic
ABCB8, ACTR3C
+46 more
Copy number gain
See cases
GUncertain significance
DGKI, DNAJB6
+166 more
Copy number gain
See cases
GPathogenic
CDK5
Single nucleotide variant
(intron variant)
not specified
+1 more
GConflicting classifications of pathogenicity
CDK5
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
ABCB8, ABCF2
+63 more
Copy number gain
See cases
GPathogenic

Items: 1 to 100 of 133

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