U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from Gene

Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UBE2V2
(R14C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE2V2
(P77S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PREX2, PRKDC
+240 more
Copy number gain
not specified
GPathogenic
AARD, ABRA
+665 more
Copy number gain
not specified
GPathogenic
CEBPD, MCM4
+3 more
Copy number gain
not provided
GUncertain significance
NKX6-3, PPDPFL
+64 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+665 more
Copy number gain
Polydactyly
GPathogenic
CEBPD, CLXN
+7 more
Copy number gain
not specified
GUncertain significance
PRKDC, SNAI2
+3 more
Duplication
Severe combined immunodeficiency due to DNA-PKcs deficiency
GUncertain significance
BAALC, CNOT7
+665 more
Copy number gain
not provided
GPathogenic
HSF1, HTRA4
+474 more
Copy number gain
not provided
GPathogenic
IDO1, IDO2
+78 more
Copy number gain
not provided
GPathogenic
PPDPFL, PRKDC
+6 more
Deletion
not provided
GPathogenic
SNTG1, SPIDR
+20 more
Copy number gain
not provided
GUncertain significance
AARD, ABRA
+593 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+665 more
Copy number gain
See cases
GPathogenic
FGF20, FGFR1
+665 more
Copy number gain
See cases
GPathogenic
SCRT1, SCX
+665 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+133 more
Copy number gain
See cases
GUncertain significance
AARD, ABRA
+3663 more
Copy number gain
See cases
GPathogenic
LOC129999966, LOC129999967
+3111 more
Copy number gain
See cases
GPathogenic
ALKAL1, CEBPD
+90 more
Copy number gain
See cases
GUncertain significance
LOC126860438, LOC126860439
+3663 more
Copy number gain
See cases
GPathogenic
LOC106903146, LOC129389984
+12 more
Copy number loss
See cases
GUncertain significance
ADAM18, ADAM2
+543 more
Copy number gain
See cases
GPathogenic
LOC126860489, LOC126860490
+1963 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
ADHFE1, ALKAL1
+491 more
Copy number gain
See cases
GPathogenic
ADAM2, ANK1
+184 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC105379224, LOC105379230
+3657 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+419 more
Copy number gain
See cases
GPathogenic
LOC130000135, LOC130000136
+593 more
Copy number gain
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination