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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCC11, ABCC12
+203 more
Copy number loss
See cases
GPathogenic
C16orf78, HNRNPA1L3
+205 more
Copy number loss
See cases
GPathogenic
LOC130058939, LOC130058940
+210 more
Copy number loss
See cases
GPathogenic
ORC6
Single nucleotide variant
not provided
GBenign
ORC6
(M1T)
Single nucleotide variant
(missense variant +2 more)
Meier-Gorlin syndrome 3
+1 more
GConflicting classifications of pathogenicity
VPS35, ORC6
(G2R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ORC6
Single nucleotide variant
(intron variant)
not provided
GBenign
ORC6
Duplication
(intron variant)
not provided
GBenign
ORC6
Single nucleotide variant
(intron variant)
not provided
GBenign
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