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Links from Gene

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NCMAP
(T11N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCMAP
(S81N)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NCMAP
(K70R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCMAP
(A4V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRHL3, NCMAP
+4 more
Copy number loss
not provided
GUncertain significance
A2ML1-AS2, A3GALT2
+2151 more
Copy number gain
Trisomy 12p
GPathogenic
NCMAP
(G83S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CLIC4, GRHL3
+8 more
Copy number gain
See cases
GUncertain significance
AGL, AGMAT
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
LINC02811, LITATS1
+1147 more
Copy number gain
See cases
GPathogenic
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