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Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTRT2, PRDM16
+1 more
Copy number gain
See cases
GLikely benign
Copy number gain
See cases
GLikely benign
ALPG, ALPI
+19 more
Copy number gain
See cases
GUncertain significance
ABCA12, ATIC
+4 more
Copy number loss
See cases
GLikely benign
OTOF, OXER1
+131 more
Copy number gain
See cases
GPathogenic
AMBN, AMTN
+4 more
Copy number loss
See cases
GUncertain significance
AADAT, CBR4
+7 more
Copy number loss
See cases
GUncertain significance
CAMK4, MAN2A1
+5 more
Copy number gain
See cases
GUncertain significance
CEP162, CYB5R4
+18 more
Copy number loss
See cases
GPathogenic
PAXIP1, RBM33
+4 more
Copy number gain
See cases
GUncertain significance
ACSM6, ALDH18A1
+33 more
Copy number loss
See cases
GPathogenic
HBB, HBE1
+25 more
Copy number gain
See cases
GLikely benign
CACNA1C, FKBP4
+6 more
Copy number gain
See cases
GLikely benign
ACOD1, CLN5
+7 more
Copy number gain
See cases
GUncertain significance
DZIP1, ERCC5
+35 more
Copy number gain
See cases
GPathogenic
ARHGAP11A, ARHGAP11B
+11 more
Copy number gain
See cases
GUncertain significance
MIR211, MTMR10
+13 more
Copy number gain
See cases
GUncertain significance
ADAMTS17, ASB7
+9 more
Copy number loss
See cases
GPathogenic
CDH13, LOC101928417
+1 more
Copy number loss
See cases
GUncertain significance
IRF3, NOSIP
+4 more
Copy number loss
See cases
GLikely pathogenic
ARFGAP1, BIRC7
+13 more
Copy number gain
See cases
GUncertain significance
MAVS, OXT
+36 more
Copy number loss
See cases
GLikely pathogenic
EOLA1, HSFX1
+5 more
Copy number gain
See cases
GLikely benign
IL1RAPL1
Copy number loss
See cases
GPathogenic
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