U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 37

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTBL2, ADAMTS12
+1445 more
Copy number gain
See cases
GPathogenic
ADAMTS12, ADAMTS16
+953 more
Copy number gain
See cases
GPathogenic
ADAMTS12, ADAMTS16
+952 more
Copy number gain
See cases
GPathogenic
AGXT2, LOC121725200
+385 more
Copy number gain
See cases
GLikely pathogenic
LINC02057, LINC02101
+518 more
Copy number gain
See cases
GPathogenic
LOC126807367, LOC126807368
+254 more
Copy number gain
See cases
GPathogenic
ANXA2R, ANXA2R-AS1
+245 more
Copy number gain
See cases
GPathogenic
PLCXD3
(T306I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCXD3
(S262N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCXD3
(A253G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCXD3
(S245C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCXD3
(E223K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCXD3
(D221E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCXD3
(G209R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCXD3
(D188E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCXD3
(I165V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCXD3
(Y153C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCXD3
(H136R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCXD3
(N129S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCXD3
(P106H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCXD3
(T85A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLCXD3
(V62I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS12, AGXT2
+71 more
Copy number gain
not provided
GPathogenic
ANXA2R, C5orf34
+45 more
Copy number gain
musculoskeletal system issues
GPathogenic
ADAMTS12, AGXT2
+72 more
Copy number gain
not specified
GPathogenic
AGXT2, ANXA2R
+51 more
Copy number gain
not provided
GPathogenic
ADAMTS12, AGXT2
+71 more
Copy number gain
See cases
GPathogenic
PLCXD3, C6
Copy number loss
not provided
GUncertain significance
GHR, CARD6
+31 more
Copy number gain
not provided
GPathogenic
AGXT2, ANXA2R
+56 more
Copy number gain
not provided
GPathogenic
C5orf24, C5orf34
+600 more
Deletion
Neurodevelopmental disorder
GUncertain significance
C1QTNF3, C5orf22
+71 more
Copy number gain
not provided
GPathogenic
ADAMTS12, AGXT2
+73 more
Copy number gain
See cases
GLikely pathogenic
DHFR, DHX29
+738 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
RXFP3, GDNF
+89 more
Copy number gain
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination