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Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129931453, LOC129931454
+1585 more
Copy number gain
See cases
GPathogenic
ADAMTS4, ADCY10
+775 more
Copy number gain
See cases
GPathogenic
ADAMTS4, ALDH9A1
+371 more
Copy number loss
See cases
GPathogenic
CRP
Single nucleotide variant
(3 prime UTR variant)
Inflammation
GUncertain significance
CRP
(V216M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CRP
(V79A +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CRP
(A74P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRP
(I70M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CRP
(I174T)
Single nucleotide variant
(missense variant +1 more)
CRP-related disorder
GUncertain significance
CRP
(G166R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CRP
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CRP
(E119D)
Single nucleotide variant
(missense variant +1 more)
CRP-related disorder
GUncertain significance
CRP
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CRP
(L101S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CRP
(S71L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CRP
(S71W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CRP
(T59M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CRP
(A50G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRP
(T45M)
Single nucleotide variant
(missense variant)
CRP-related disorder
GLikely benign
CRP
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CRP
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ACKR1, ADAMTS4
+107 more
Copy number loss
not provided
GLikely pathogenic
CRP
Copy number loss
not provided
GUncertain significance
LY9, MNDA
+90 more
Duplication
Autoimmune interstitial lung disease-arthritis syndrome
GUncertain significance
FCGR3A, LCE3C
+956 more
Duplication
Parathyroid carcinoma
+2 more
GUncertain significance
ACKR1, ADAMTS4
+132 more
Copy number loss
not provided
GPathogenic
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
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