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Links from Gene

Items: 57

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CALCOCO1
(P115S)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CALCOCO1
(A369T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CALCOCO1
(C532F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CALCOCO1
(G329V)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CALCOCO1
(E308Q)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CALCOCO1
(R147Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CALCOCO1
(G561R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CALCOCO1
(T435A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CALCOCO1
(R421H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CALCOCO1
(G313S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CALCOCO1
(R299H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AAAS, AMHR2
+19 more
Copy number gain
not specified
GUncertain significance
CALCOCO1
(R334W)
Single nucleotide variant
(missense variant +2 more)
EBV-positive nodal T- and NK-cell lymphoma
GLikely benign
CALCOCO1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CALCOCO1
(R472H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CALCOCO1
(T565N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CALCOCO1, LOC126861530
(R22Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CALCOCO1
(R375H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CALCOCO1
(R261Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CALCOCO1
(R483Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CALCOCO1
(D474E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CALCOCO1
(T163M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CALCOCO1
(P91S)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CALCOCO1
(V148L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CALCOCO1
(Q112K)
Single nucleotide variant
(missense variant +2 more)
not specified
+1 more
GUncertain significance
CALCOCO1
(R385Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CALCOCO1
(A434T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CALCOCO1
(E557G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CALCOCO1
(R371Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CALCOCO1
(R105H)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CALCOCO1
(Q315P)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CALCOCO1
(M415I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CALCOCO1
(R373K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CALCOCO1
(D538E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CALCOCO1
(R192M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CALCOCO1
(A286T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CALCOCO1
(N161S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CALCOCO1
(A480V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CALCOCO1
(V605G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CALCOCO1
(G553D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CALCOCO1
(H295Q)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CALCOCO1
(G625R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CALCOCO1
(C110Y)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CALCOCO1, LOC126861530
(R12C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CALCOCO1, LOC126861530
(R8Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CALCOCO1
(E368K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CALCOCO1
(A393D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CALCOCO1
(E606Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AMHR2, ATF7
+26 more
Deletion
Neurodevelopmental disorder
GPathogenic
BICD1, HDAC7
+212 more
Inversion
not specified
GUncertain significance
SLC15A5, SLC16A7
+1006 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+1006 more
Copy number gain
See cases
GPathogenic
GALNT8, H2AJ
+1007 more
Copy number gain
See cases
GPathogenic
PMEL, PPP1R1A
+219 more
Copy number gain
See cases
GPathogenic
ACAD10, ACADS
+4836 more
Copy number gain
See cases
GPathogenic
AAAS, AMHR2
+114 more
Copy number loss
See cases
GPathogenic
AAAS, AMHR2
+74 more
Copy number loss
See cases
GPathogenic
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