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Items: 48

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC132088675, LOC132088682
+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
FCRL6
(S43P +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL6
(A80P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL6
(T69I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL6
(V82M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL6
(R85H +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
FCRL6
(C83G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL6
(S84T +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FCRL6
(L115Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL6
(R138G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL6
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FCRL6
(R159K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL6
(I167S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FCRL6
(G183W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL6
(V189M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FCRL6
(R206H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL6
(L211P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL6
(G214R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL6
(G221W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL6
(G216E +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL6
(M218T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL6
(S241F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL6
(L262I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL6
(L262P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL6
(E268G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL6
(N287S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL6
(S293P +1 more)
Single nucleotide variant
(missense variant)
not specified
GBenign
FCRL6
(A325V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL6
(A336G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL6
(P351S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL6
(P345S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL6
(H375R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL6
(S381N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL6
(V397A +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FCRL6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
FCRL6
(D428N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FCRL6
(E431D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACKR1, ADAMTS4
+107 more
Copy number loss
not provided
GLikely pathogenic
ATP1A2, ATP1A4
+27 more
Copy number gain
not provided
GUncertain significance
TAGLN2, TOMM40L
+90 more
Duplication
Autoimmune interstitial lung disease-arthritis syndrome
GUncertain significance
KLHL12, LNCATV
+956 more
Duplication
Paragangliomas 3
+2 more
GUncertain significance
ACKR1, ADAMTS4
+132 more
Copy number loss
not provided
GPathogenic
PADI1, PADI2
+2014 more
Copy number gain
See cases
GPathogenic
NID1, NIPAL3
+2014 more
Copy number gain
See cases
GPathogenic
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