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Links from Gene

Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CNIH2
(C9R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CNIH2
(R59G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACTN3, ACY3
+343 more
Copy number gain
not specified
GLikely pathogenic
FOLR2, RAB3IL1
+362 more
Copy number gain
not provided
GPathogenic
CNIH2
(G45R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACTN3, ACY3
+124 more
Duplication
Aicardi-Goutieres syndrome 3
+1 more
GUncertain significance
MAML2, MAP3K11
+955 more
Copy number gain
MISSED ABORTION
GPathogenic
ACTN3, AP5B1
+63 more
Copy number loss
not specified
GUncertain significance
AP5B1, ARL2
+81 more
Deletion
Bardet-Biedl syndrome
+1 more
GPathogenic
ACTN3, B4GAT1
+25 more
Copy number loss
not provided
GUncertain significance
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
CNIH2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
B4GAT1, BRMS1
+72 more
Duplication
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
ACTN3, ACY3
+94 more
Copy number gain
not provided
GPathogenic
YIF1A, CD248
+5 more
Copy number loss
not provided
GUncertain significance
ACTN3, ANKRD13D
+104 more
Copy number gain
See cases
GLikely pathogenic
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
ACTN3, ACY3
+57 more
Copy number gain
See cases
GUncertain significance
GAL3ST3, GPR152
+282 more
Copy number loss
See cases
GPathogenic
ACTN3, ACY3
+212 more
Copy number gain
See cases
GPathogenic
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