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Links from MedGen

Items: 45

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ORC6
(R22K)
Single nucleotide variant
(missense variant +1 more)
Meier-Gorlin syndrome 3
GPathogenic
ORC6
(A24V)
Single nucleotide variant
(missense variant +1 more)
Meier-Gorlin syndrome 3
GPathogenic
ORC6
Single nucleotide variant
(splice acceptor variant)
Meier-Gorlin syndrome 3
GLikely pathogenic
ORC6
(Q130H)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ORC6
(P11R)
Single nucleotide variant
(missense variant +1 more)
Meier-Gorlin syndrome 3
+1 more
GUncertain significance
ORC6
Single nucleotide variant
(synonymous variant +1 more)
Meier-Gorlin syndrome 3
+1 more
GConflicting classifications of pathogenicity
ORC6
Single nucleotide variant
(3 prime UTR variant +1 more)
Meier-Gorlin syndrome 3
GUncertain significance
ORC6
Single nucleotide variant
(3 prime UTR variant +1 more)
Meier-Gorlin syndrome 3
GUncertain significance
ORC6
Single nucleotide variant
(3 prime UTR variant +1 more)
Meier-Gorlin syndrome 3
GUncertain significance
ORC6
Single nucleotide variant
(5 prime UTR variant +1 more)
Meier-Gorlin syndrome 3
GUncertain significance
ORC6
Single nucleotide variant
(3 prime UTR variant +1 more)
Meier-Gorlin syndrome 3
GUncertain significance
ORC6
Single nucleotide variant
(3 prime UTR variant +1 more)
Meier-Gorlin syndrome 3
GUncertain significance
ORC6
(L228V)
Single nucleotide variant
(missense variant +1 more)
Meier-Gorlin syndrome 3
+1 more
GUncertain significance
ORC6
(R198W)
Single nucleotide variant
(missense variant +1 more)
Meier-Gorlin syndrome 3
GUncertain significance
ORC6
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ORC6
(A144T)
Single nucleotide variant
(missense variant +1 more)
Meier-Gorlin syndrome 3
GUncertain significance
ORC6
(Y67fs)
Deletion
(frameshift variant +1 more)
Meier-Gorlin syndrome 3
GUncertain significance
ORC6
Single nucleotide variant
(splice acceptor variant)
Meier-Gorlin syndrome 3
GUncertain significance
ORC6
(M1V)
Single nucleotide variant
(missense variant +2 more)
Meier-Gorlin syndrome 3
GPathogenic
ORC6
(Y79N)
Single nucleotide variant
(missense variant +1 more)
Meier-Gorlin syndrome 3
GLikely pathogenic
ORC6
Single nucleotide variant
(3 prime UTR variant +1 more)
Meier-Gorlin syndrome 3
GUncertain significance
ORC6
Single nucleotide variant
(3 prime UTR variant +1 more)
Meier-Gorlin syndrome 3
GUncertain significance
ORC6
Single nucleotide variant
(3 prime UTR variant +1 more)
Meier-Gorlin syndrome 3
GUncertain significance
ORC6
Single nucleotide variant
(3 prime UTR variant +1 more)
Meier-Gorlin syndrome 3
GUncertain significance
ORC6
Single nucleotide variant
(3 prime UTR variant +1 more)
Meier-Gorlin syndrome 3
GUncertain significance
ORC6
Single nucleotide variant
(non-coding transcript variant +1 more)
Meier-Gorlin syndrome 3
GBenign
ORC6
Single nucleotide variant
(3 prime UTR variant +1 more)
Meier-Gorlin syndrome 3
GUncertain significance
ORC6
Single nucleotide variant
(3 prime UTR variant +1 more)
Meier-Gorlin syndrome 3
GUncertain significance
ORC6
Single nucleotide variant
(3 prime UTR variant +1 more)
Meier-Gorlin syndrome 3
GUncertain significance
ORC6
Single nucleotide variant
(non-coding transcript variant +1 more)
Meier-Gorlin syndrome 3
GBenign
ORC6
Single nucleotide variant
(3 prime UTR variant +1 more)
Meier-Gorlin syndrome 3
GUncertain significance
ORC6
(V186F)
Single nucleotide variant
(missense variant +1 more)
Meier-Gorlin syndrome 3
+1 more
GUncertain significance
ORC6
Single nucleotide variant
(intron variant)
Meier-Gorlin syndrome 3
GUncertain significance
ORC6
(P138Q)
Single nucleotide variant
(missense variant +1 more)
Meier-Gorlin syndrome 3
+1 more
GUncertain significance
ORC6
Single nucleotide variant
(synonymous variant +1 more)
Meier-Gorlin syndrome 3
+1 more
GConflicting classifications of pathogenicity
ORC6
(R8L)
Single nucleotide variant
(missense variant +1 more)
Meier-Gorlin syndrome 3
+1 more
GUncertain significance
ORC6, VPS35
Single nucleotide variant
(5 prime UTR variant +1 more)
Meier-Gorlin syndrome
+3 more
GConflicting classifications of pathogenicity
ORC6, VPS35
Single nucleotide variant
(5 prime UTR variant +1 more)
Meier-Gorlin syndrome
+3 more
GBenign
ORC6
(K201fs)
Microsatellite
(frameshift variant +1 more)
Meier-Gorlin syndrome 3
GPathogenic
ORC6
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ORC6
(M1T)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ORC6
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign
ORC6
(I69M)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
ORC6
(Y232S)
Single nucleotide variant
(missense variant +1 more)
Meier-Gorlin syndrome 3
GPathogenic
ORC6
Deletion
(nonsense +1 more)
Meier-Gorlin syndrome 3
GPathogenic
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