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Links from Gene

Items: 69

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACHE, ACTL6B
+106 more
Deletion
not provided
GPathogenic
PON1
(H243P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PON1
(Y185N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PON1
(F77S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PON1
Single nucleotide variant
(synonymous variant)
PON1-related disorder
GLikely benign
PON1
Single nucleotide variant
(synonymous variant)
PON1-related disorder
GLikely benign
ASB4, C7orf76
+7 more
Copy number loss
not provided
GPathogenic
PON1
(N19D)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PON1
(M127R)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PON1
(N113K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PON1
(E276K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PON1
(R18G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PON1
(T266N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PON1
(A238D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ASB4, ASNS
+34 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
PON1
(M289K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASB4, DYNC1I1
+5 more
Copy number gain
not specified
GUncertain significance
PON1
Single nucleotide variant
(intron variant)
not provided
GBenign
PON1
Insertion
(intron variant)
not provided
GBenign
PON1
Duplication
(intron variant)
not provided
GBenign
PON1
Single nucleotide variant
(intron variant)
not provided
GBenign
PON1
Single nucleotide variant
(intron variant)
not provided
GBenign
PON1
Microsatellite
(intron variant)
not provided
GBenign
PON1
Microsatellite
(intron variant)
not provided
GBenign
PON1
Microsatellite
(intron variant)
not provided
GBenign
LOC129998829, PON1
Single nucleotide variant
not provided
GBenign
PON1
Deletion
(intron variant)
not provided
GBenign
LOC129998829, PON1
Single nucleotide variant
not provided
GBenign
PON1
Deletion
(intron variant)
not provided
GBenign
PON1
Single nucleotide variant
(intron variant)
not provided
GBenign
PON1
Single nucleotide variant
(intron variant)
not provided
GBenign
PON1
Microsatellite
(intron variant)
not provided
GBenign
PON1
(R160G)
Single nucleotide variant
(missense variant)
not provided
GBenign
PON1
Duplication
(intron variant)
not provided
GBenign
PON1
Single nucleotide variant
(intron variant)
not provided
GBenign
PON1
Single nucleotide variant
(intron variant)
not provided
GBenign
PON1
Microsatellite
(intron variant)
not provided
GBenign
PON1
Single nucleotide variant
(intron variant)
not provided
GBenign
PON1
Duplication
(intron variant)
not provided
GBenign
PON1
Single nucleotide variant
(intron variant)
not provided
GBenign
PON1
Deletion
(intron variant)
not provided
GBenign
PON1
Microsatellite
(intron variant)
not provided
GBenign
PON1
Single nucleotide variant
(intron variant)
not provided
GBenign
PON1
Single nucleotide variant
(intron variant)
not provided
GBenign
PON1
Single nucleotide variant
(intron variant)
not provided
GBenign
PON1
Single nucleotide variant
(intron variant)
not provided
GBenign
PON1
(A126T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP5MF-PTCD1, AZGP1
+127 more
Copy number gain
Isolated Pierre-Robin syndrome
+1 more
GPathogenic
ASB4, BET1
+13 more
Copy number loss
Myoclonic dystonia 11
GPathogenic
PON1
(Y236C)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
GUncertain significance
PON1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PON1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PON1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PRSS1, PRSS37
+896 more
Copy number gain
not provided
GPathogenic
C7orf76, CASD1
+15 more
Copy number loss
not provided
GPathogenic
CYP3A4, TAC1
+65 more
Copy number loss
Split hand-foot malformation 1
GPathogenic
AVL9, AZGP1
+896 more
Copy number gain
See cases
GPathogenic
MCM7, MDFIC
+896 more
Copy number gain
See cases
GPathogenic
AASS, ABCA13
+678 more
Deletion
Pleomorphic xanthoastrocytoma
GPathogenic
ARMC10, ASB4
+504 more
Inversion
Childhood apraxia of speech
GPathogenic
LOC110121296, LOC111365161
+110 more
Copy number loss
See cases
GPathogenic
ASB4, ASNS
+61 more
Copy number loss
See cases
GPathogenic
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
PON1
(V109L)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
LOC129998829, PON1
Single nucleotide variant
not provided
GBenign
PON1
(L55M)
Single nucleotide variant
(missense variant)
not provided
GBenign
PON1
(Q192R)
Single nucleotide variant
(missense variant)
not provided
GBenign
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