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Links from Gene

Items: 37

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDK2AP1
(S21N)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
ABCB9, ACADS
+73 more
Duplication
Deficiency of butyryl-CoA dehydrogenase
GUncertain significance
ATP6V0A2, CDK2AP1
+13 more
Copy number loss
not specified
GUncertain significance
CDK2AP1, KMT5A
+7 more
Copy number gain
not specified
GUncertain significance
CDK2AP1, KMT5A
+6 more
Copy number gain
not specified
GUncertain significance
CDK2AP1, KMT5A
+45 more
Copy number gain
Autism spectrum disorder
GUncertain significance
AACS, ABCB9
+93 more
Copy number gain
not provided
GPathogenic
AACS, ABCB9
+108 more
Copy number gain
not provided
GPathogenic
CDK2AP1
(P17L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABCB9, ANAPC5
+48 more
Copy number gain
See cases
GUncertain significance
ABCB9, ARL6IP4
+37 more
Deletion
not provided
GUncertain significance
CDK2AP1
(R111W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDK2AP1
(G15R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABCB9, ARL6IP4
+15 more
Copy number gain
not specified
GUncertain significance
AACS, ABCB9
+135 more
Copy number gain
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GLikely pathogenic
CDK2AP1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
CDK2AP1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
CDK2AP1, KMT5A
+5 more
Copy number gain
not provided
GUncertain significance
CDK2AP1, KMT5A
+5 more
Copy number gain
not provided
GUncertain significance
CDK2AP1, KMT5A
+5 more
Copy number gain
not provided
GUncertain significance
AACS, ABCB9
+52 more
Copy number loss
not provided
GPathogenic
CDK2AP1, MPHOSPH9
+2 more
Copy number gain
not provided
GUncertain significance
SBNO1, SNRNP35
+5 more
Copy number gain
not provided
GUncertain significance
SLC15A5, SLC16A7
+1006 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+1006 more
Copy number gain
See cases
GPathogenic
ABCB9, ARL6IP4
+15 more
Copy number gain
See cases
GLikely pathogenic
CDK2AP1, KMT5A
+5 more
Copy number gain
See cases
GUncertain significance
GALNT8, H2AJ
+1007 more
Copy number gain
See cases
GPathogenic
SBNO1, MTRFR
+6 more
Copy number gain
Abnormal esophagus morphology
GLikely benign
LOC130009126, LOC130009127
+906 more
Copy number gain
See cases
GPathogenic
AACS, ABCB9
+330 more
Copy number loss
See cases
GPathogenic
AACS, ABCB9
+416 more
Copy number loss
See cases
GPathogenic
FERRY3, FGD4
+4837 more
Copy number gain
See cases
GPathogenic
AACS, ABCB9
+663 more
Copy number gain
See cases
GPathogenic
LOC130009192, LOC130009193
+892 more
Copy number gain
See cases
GPathogenic
AACS, ATP6V0A2
+292 more
Copy number loss
See cases
GPathogenic
LOC132090050, LOC132090051
+786 more
Copy number gain
See cases
GPathogenic
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