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Links from Gene

Items: 59

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CAMKK2
(S10R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAMKK2
(T154M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZCCHC8, ANAPC5
+24 more
Deletion
not provided
GPathogenic
ABCB9, ACADS
+73 more
Duplication
Deficiency of butyryl-CoA dehydrogenase
GUncertain significance
CAMKK2
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
CAMKK2
(V151I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAMKK2
(A15V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAMKK2
(R97L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAMKK2
(R72Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAMKK2
(P570L +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CAMKK2
(P525A +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CAMKK2
(R451H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAMKK2
(D414N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAMKK2
(R38Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
AACS, ABCB9
+93 more
Copy number gain
not provided
GPathogenic
AACS, ABCB9
+108 more
Copy number gain
not provided
GPathogenic
CAMKK2
(P538L +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
ABCB9, ANAPC5
+48 more
Copy number gain
See cases
GUncertain significance
CAMKK2
(R537Q +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
CAMKK2
(R23G)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CAMKK2
(V131I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAMKK2
(M542V +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CAMKK2
(R13W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAMKK2
(R494C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAMKK2
(G222V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAMKK2
(H93Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAMKK2
(R227K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAMKK2
(S125F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAMKK2
(E59K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAMKK2
(R143W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAMKK2
(R38W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAMKK2
(M391L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAMKK2
(E57K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAMKK2
(V348L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAMKK2
(P124L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAMKK2
(G22D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANAPC5, CAMKK2
+2 more
Copy number gain
not provided
GUncertain significance
AACS, ABCB9
+135 more
Copy number gain
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GLikely pathogenic
CAMKK2
(M542fs +1 more)
Duplication
(frameshift variant +2 more)
not provided
GUncertain significance
CAMKK2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CAMKK2
Single nucleotide variant
(intron variant)
not provided
GBenign
CAMKK2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CAMKK2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CAMKK2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CAMKK2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CAMKK2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SLC15A5, SLC16A7
+1006 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+1006 more
Copy number gain
See cases
GPathogenic
ANAPC5, C12orf43
+8 more
Copy number gain
See cases
GUncertain significance
GALNT8, H2AJ
+1007 more
Copy number gain
See cases
GPathogenic
LOC130009126, LOC130009127
+906 more
Copy number gain
See cases
GPathogenic
AACS, ABCB9
+416 more
Copy number loss
See cases
GPathogenic
ACAD10, ACADS
+4836 more
Copy number gain
See cases
GPathogenic
AACS, ABCB9
+663 more
Copy number gain
See cases
GPathogenic
ANAPC5, CAMKK2
+11 more
Copy number gain
See cases
GLikely benign
LOC130009192, LOC130009193
+892 more
Copy number gain
See cases
GPathogenic
LOC130008976, LOC130008977
+264 more
Copy number gain
See cases
GUncertain significance
ACADS, ANAPC5
+175 more
Copy number loss
See cases
GPathogenic
LOC132090050, LOC132090051
+786 more
Copy number gain
See cases
GPathogenic
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