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Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MIR138-2, MIR140
+1738 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+939 more
Copy number gain
See cases
GPathogenic
LOC130059829, LOC130059830
+1429 more
Copy number gain
See cases
GPathogenic
LOC108281164, LOC109029536
+1426 more
Copy number gain
See cases
GPathogenic
LOC130059834, LOC130059835
+1424 more
Copy number gain
See cases
GPathogenic
LOC130059420, LOC130059421
+869 more
Copy number gain
See cases
GPathogenic
LOC132090408, LOC132090409
+572 more
Copy number gain
See cases
GPathogenic
ADAD2, ADAMTS18
+591 more
Copy number loss
See cases
GPathogenic
LOC130059850, LOC130059851
+1041 more
Copy number gain
See cases
GPathogenic
PKD1L2, PKD1L3
+1031 more
Copy number gain
See cases
GPathogenic
LOC130059772, LOC130059773
+832 more
Copy number gain
See cases
GPathogenic
LOC132090418, LOC132090419
+788 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+781 more
Copy number gain
See cases
GPathogenic
LOC130059506, LOC130059507
+447 more
Copy number loss
See cases
GPathogenic
LOC130059528, LOC130059529
+162 more
Copy number loss
See cases
GPathogenic
LOC130059746, LOC130059747
+719 more
Copy number gain
See cases
GPathogenic
ARLNC1, ATMIN
+162 more
Copy number loss
CMIP-related neurodevelopmental disorder
GLikely pathogenic
LOC130059500, LOC130059501
+691 more
Copy number gain
See cases
GPathogenic
LOC132090448, LOC132090449
+677 more
Copy number gain
See cases
GPathogenic
LOC130059591, LOC130059592
+670 more
Copy number gain
See cases
GPathogenic
ADAD2, ATP2C2
+211 more
Copy number loss
See cases
GPathogenic
CDH13, HSD17B2
+27 more
Copy number gain
See cases
GUncertain significance
CDH13, HSD17B2
+24 more
Copy number gain
See cases
GUncertain significance
CDH13, HSD17B2
+23 more
Copy number gain
See cases
GLikely benign
CDH13, CDH13-AS1
+23 more
Copy number gain
See cases
GUncertain significance
CDH13, CDH13-AS1
+14 more
Copy number gain
See cases
GUncertain significance
LOC130059691, LOC130059692
+566 more
Copy number gain
See cases
GPathogenic
LOC121847994, CDH13
+13 more
Copy number gain
See cases
GLikely benign
CDH13, LOC101928417
+7 more
Copy number loss
See cases
GUncertain significance
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