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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129931453, LOC129931454
+1585 more
Copy number gain
See cases
GPathogenic
C1orf68, LCE2A
+10 more
Copy number loss
See cases
GBenign
LCE4A
(P17L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LCE4A
(P19T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LCE4A
(C40F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LCE4A
(C58Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LCE4A
(P73L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LCE4A
(S75G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LCE4A
(G89D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACP6, ADAM15
+263 more
Copy number gain
not specified
GPathogenic
ACP6, ADAM15
+315 more
Copy number gain
not specified
GPathogenic
ACP6, ADAM15
+293 more
Copy number gain
Chromosome 1q21.1 duplication syndrome
GPathogenic
C1orf68, IVL
+27 more
Copy number gain
not provided
GUncertain significance
CRTC2, KHDC4
+228 more
Duplication
MHC class II deficiency
+3 more
GUncertain significance
C1orf68, KPRP
+11 more
Copy number loss
not provided
GUncertain significance
FCGR3A, LCE3C
+956 more
Duplication
Parathyroid carcinoma
+2 more
GUncertain significance
LCE2A, S100A2
+125 more
Copy number gain
not provided
GPathogenic
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
CIART, LCE2A
+154 more
Copy number gain
Chromosome 1q21.1 duplication syndrome
GPathogenic
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