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Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129389216, LOC129389217
+757 more
Copy number gain
See cases
GPathogenic
PARM1-AS1, PCAT4
+330 more
Deletion
See cases
GPathogenic
LOC129992695, LOC129992696
+533 more
Copy number gain
See cases
GPathogenic
ADAMTS3, AFM
+166 more
Copy number gain
See cases
GPathogenic
ABRAXAS1, ADAMTS3
+331 more
Copy number gain
See cases
GPathogenic
LOC129992714, LOC129992715
+236 more
Copy number loss
See cases
GPathogenic
ART3, CXCL10
+16 more
Copy number loss
See cases
GUncertain significance
ANXA3, ART3
+107 more
Copy number gain
See cases
GPathogenic
ART3, CXCL11
(K88T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ART3, CXCL11
(Q81L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ART3, CXCL11
(K78N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ART3, CXCL11
(Q72R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ART3, CXCL11
(I64V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ART3, CXCL11
(Q20P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AREG, ART3
+37 more
Copy number loss
not specified
GUncertain significance
HPGDS, SCRG1
+537 more
Copy number gain
not provided
GPathogenic
ART3, CXCL10
+4 more
Copy number loss
not provided
GUncertain significance
ABCG2, ABRAXAS1
+91 more
Copy number gain
not specified
GPathogenic
CXCL5, CXCL6
+51 more
Copy number loss
not specified
GPathogenic
ART3, CCDC158
+16 more
Deletion
Progressive myoclonic epilepsy
GPathogenic
AASDH, ABCG2
+359 more
Copy number gain
not provided
GPathogenic
ABRAXAS1, ADAMTS3
+97 more
Copy number loss
See cases
GPathogenic
ART3, USO1
+6 more
Copy number gain
not provided
GUncertain significance
CXCL3, LIN54
+82 more
Copy number loss
not provided
GPathogenic
ADAMTS3, AFM
+92 more
Copy number loss
not provided
GPathogenic
ADAMTS3, AFM
+51 more
Copy number loss
not provided
GPathogenic
CCNG2, CCNI
+109 more
Copy number gain
not provided
GPathogenic
ART3, CXCL9
+5 more
Copy number gain
not provided
GLikely benign
BTC, PARM1
+17 more
Copy number loss
not provided
GUncertain significance
CDKL2, AREG
+25 more
Copy number loss
not provided
GUncertain significance
AADAT, AASDH
+745 more
Copy number gain
See cases
GPathogenic
MRPL1, MSANTD1
+745 more
Copy number gain
See cases
GPathogenic
H2AZ1, HADH
+744 more
Copy number gain
See cases
GPathogenic
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