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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARSD1, AATF
+2032 more
Copy number gain
See cases
GPathogenic
LOC126862582, LOC126862583
+1753 more
Copy number gain
See cases
GPathogenic
DCAF7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
DCAF7
(P16S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCAF7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
DCAF7
(V83I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCAF7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
DCAF7
(V201M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACE, APPBP2
+43 more
Copy number gain
See cases
GUncertain significance
ABCA6, ABCA8
+79 more
Copy number gain
not provided
GPathogenic
ACE, AMZ2
+77 more
Copy number gain
not provided
GPathogenic
ALOX12, ALOX12B
+1143 more
Copy number gain
See cases
GPathogenic
SPEM2, TBCD
+1143 more
Copy number gain
See cases
GPathogenic
AANAT, AATK
+458 more
Copy number gain
See cases
GPathogenic
TANC2, DDX42
+66 more
Copy number gain
See cases
GPathogenic
ACE, APOH
+48 more
Copy number gain
See cases
GPathogenic
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