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Links from Gene

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HOXC-AS3, HOXC10
(R87S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
HOXC-AS3, HOXC10
(G48R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HOXC-AS3, HOXC10
(A65T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HOXC-AS3, HOXC10
(K83Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
HOXC-AS3, HOXC10
(A85S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
HOXC-AS3, HOXC10
(R56M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HOXC-AS3, HOXC10
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
AMHR2, ATF7
+219 more
Copy number gain
See cases
GPathogenic
FAM242C, FLJ12825
+40 more
Copy number gain
See cases
GLikely benign
LOC130008916, LOC130008917
+4836 more
Copy number gain
See cases
GPathogenic
AAAS, AMHR2
+114 more
Copy number loss
See cases
GPathogenic
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