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Links from MedGen

Items: 78

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ORC1
(F155S)
Single nucleotide variant
(missense variant)
Meier-Gorlin syndrome 1
GUncertain significance
ORC1
(A174V)
Single nucleotide variant
(missense variant)
Meier-Gorlin syndrome 1
+1 more
GUncertain significance
ORC1
(T230fs)
Duplication
(frameshift variant)
Meier-Gorlin syndrome 1
GLikely pathogenic
ORC1
Single nucleotide variant
(splice acceptor variant)
Meier-Gorlin syndrome 1
GPathogenic
DONSON
(R211G)
Single nucleotide variant
(missense variant)
Meier-Gorlin syndrome 1
GUncertain significance
DONSON
(E17fs)
Deletion
(frameshift variant)
Meier-Gorlin syndrome 1
GLikely pathogenic
ORC1
(E73K)
Single nucleotide variant
(missense variant)
Meier-Gorlin syndrome 1
GPathogenic
ORC1
Deletion
Meier-Gorlin syndrome 1
GPathogenic
ORC1
(L617P +1 more)
Single nucleotide variant
(missense variant)
Meier-Gorlin syndrome 1
GPathogenic
ORC1
(P312S)
Single nucleotide variant
(missense variant)
Meier-Gorlin syndrome 1
GUncertain significance
ORC1
(P80fs)
Deletion
(frameshift variant)
Meier-Gorlin syndrome 1
GPathogenic
ORC1
(G523R +1 more)
Single nucleotide variant
(missense variant)
Meier-Gorlin syndrome 1
GUncertain significance
ORC1
(C824fs +3 more)
Deletion
(frameshift variant +1 more)
Meier-Gorlin syndrome 1
GLikely pathogenic
ORC1
(R105W)
Single nucleotide variant
(missense variant)
Meier-Gorlin syndrome 1
GLikely pathogenic
ORC1
(G399D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ORC1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GUncertain significance
LOC126805733, ORC1
Single nucleotide variant
(5 prime UTR variant)
Meier-Gorlin syndrome 1
GUncertain significance
ORC1
Single nucleotide variant
(intron variant)
Meier-Gorlin syndrome 1
GUncertain significance
ORC1
(Q51E)
Single nucleotide variant
(missense variant)
Meier-Gorlin syndrome 1
+1 more
GConflicting classifications of pathogenicity
ORC1
(E484V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
ORC1
(R544C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
ORC1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
ORC1
(A97S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ORC1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
ORC1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ORC1
Single nucleotide variant
(synonymous variant)
Meier-Gorlin syndrome 1
GUncertain significance
ORC1
(C186R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ORC1
(E270K)
Single nucleotide variant
(missense variant)
Meier-Gorlin syndrome 1
GUncertain significance
ORC1
(T304I)
Single nucleotide variant
(missense variant)
Meier-Gorlin syndrome 1
GUncertain significance
ORC1
(G342V)
Single nucleotide variant
(missense variant)
Meier-Gorlin syndrome 1
GUncertain significance
ORC1
(P807L +1 more)
Single nucleotide variant
(missense variant)
Meier-Gorlin syndrome 1
GUncertain significance
ORC1
(R846W +1 more)
Single nucleotide variant
(missense variant)
Meier-Gorlin syndrome 1
GUncertain significance
ORC1
(A852V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ORC1
(C469R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ORC1
(Q577R +1 more)
Single nucleotide variant
(missense variant)
ORC1-related condition
+2 more
GBenign/Likely benign
ORC1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ORC1
Single nucleotide variant
(synonymous variant)
Meier-Gorlin syndrome 1
+1 more
GConflicting classifications of pathogenicity
ORC1
(R716Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ORC1
(T655I +1 more)
Single nucleotide variant
(missense variant)
Meier-Gorlin syndrome 1
GUncertain significance
ORC1
(S737* +1 more)
Duplication
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
ORC1
(Q180H)
Single nucleotide variant
(missense variant)
Meier-Gorlin syndrome 1
+1 more
GBenign
ORC1
(T203I)
Single nucleotide variant
(missense variant)
Meier-Gorlin syndrome 1
+2 more
GUncertain significance
ORC1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
ORC1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
ORC1
(G131V)
Single nucleotide variant
(missense variant)
Meier-Gorlin syndrome 1
GUncertain significance
ORC1
Single nucleotide variant
(synonymous variant)
Meier-Gorlin syndrome 1
GUncertain significance
ORC1
(P179T)
Single nucleotide variant
(missense variant)
Meier-Gorlin syndrome 1
GUncertain significance
ORC1
(R380L)
Single nucleotide variant
(missense variant)
Meier-Gorlin syndrome 1
GUncertain significance
ORC1
Single nucleotide variant
(synonymous variant)
Meier-Gorlin syndrome 1
GUncertain significance
ORC1
(R477Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ORC1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ORC1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ORC1
(T607A +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
ORC1
(V772I +1 more)
Single nucleotide variant
(missense variant)
ORC1-related condition
+3 more
GBenign/Likely benign
ORC1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ORC1
(H802Y +1 more)
Single nucleotide variant
(missense variant)
Meier-Gorlin syndrome 1
GUncertain significance
ORC1
Single nucleotide variant
(3 prime UTR variant)
Meier-Gorlin syndrome 1
GUncertain significance
ORC1
Single nucleotide variant
(3 prime UTR variant)
Meier-Gorlin syndrome 1
GUncertain significance
ORC1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
ORC1
(R19S)
Single nucleotide variant
(missense variant)
ORC1-related condition
+3 more
GBenign/Likely benign
ORC1
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
ORC1
(S440P)
Single nucleotide variant
(missense variant)
ORC1-related condition
+3 more
GConflicting classifications of pathogenicity
ORC1
(R396W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
ORC1
(S269L)
Single nucleotide variant
(missense variant)
ORC1-related condition
+3 more
GBenign/Likely benign
ORC1
(V190M)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
ORC1
(M816T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
ORC1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
ORC1
(C469Y +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
ORC1
(T466M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
ORC1
(A372V)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
ORC1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
ORC1
(R666W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ORC1
Single nucleotide variant
(splice acceptor variant)
Meier-Gorlin syndrome 1
GPathogenic
ORC1
(V662fs +1 more)
Indel
(frameshift variant)
Meier-Gorlin syndrome 1
GPathogenic
ORC1
(R720Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ORC1
(R105Q)
Single nucleotide variant
(missense variant)
Meier-Gorlin syndrome
+2 more
GPathogenic/Likely pathogenic
ORC1
(F89S)
Single nucleotide variant
(missense variant)
ORC1-related condition
+1 more
GConflicting classifications of pathogenicity
ORC1
(E127G)
Single nucleotide variant
(missense variant)
Meier-Gorlin syndrome 1
GPathogenic
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