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Links from MedGen

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ORC4
(R205Q +2 more)
Single nucleotide variant
(missense variant)
Meier-Gorlin syndrome 2
GUncertain significance
ORC4
(H235R +2 more)
Single nucleotide variant
(missense variant)
Meier-Gorlin syndrome 2
GLikely pathogenic
ORC4
(S124* +2 more)
Single nucleotide variant
(nonsense)
Meier-Gorlin syndrome 2
GPathogenic
ORC4
Duplication
(intron variant)
Meier-Gorlin syndrome 2
+1 more
GBenign
ORC4
Deletion
(intron variant)
not provided
+2 more
GBenign
ORC4
(M1V)
Single nucleotide variant
(missense variant +3 more)
Meier-Gorlin syndrome 2
GPathogenic
ORC4
(T409fs +2 more)
Deletion
(frameshift variant)
Meier-Gorlin syndrome 2
GPathogenic
ORC4
(L202V +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
ORC4
(Q96R +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ORC4
(N78S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign
LOC126806366, ORC4
Deletion
Meier-Gorlin syndrome 2
GPathogenic
ORC4
(A208fs +2 more)
Duplication
(frameshift variant)
not provided
GPathogenic
ORC4
(Y174C +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
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