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Items: 1 to 100 of 155

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACVR1, ACVR1C
+238 more
Copy number gain
See cases
GPathogenic
ACVR1, ACVR1C
+189 more
Copy number loss
See cases
GPathogenic
ACVR1, ACVR1C
+333 more
Copy number loss
See cases
GPathogenic
ACVR1, ACVR1C
+147 more
Copy number loss
See cases
GPathogenic
LOC129934943, LOC129934944
+74 more
Copy number loss
See cases
GPathogenic
LOC129935011, LOC129935012
+530 more
Copy number gain
See cases
GPathogenic
ACVR1, ACVR1C
+275 more
Copy number gain
See cases
GPathogenic
ACVR1C, LOC129934963
+61 more
Deletion
Autism spectrum disorder
GLikely pathogenic
LINC01876, NR4A2
Single nucleotide variant
not provided
GBenign
NR4A2
Single nucleotide variant
Parkinson disease, late-onset
GUncertain significance
NR4A2
Single nucleotide variant
(3 prime UTR variant)
Parkinson disease, late-onset
GLikely benign
NR4A2
Single nucleotide variant
(3 prime UTR variant)
Parkinson disease, late-onset
GUncertain significance
NR4A2
Single nucleotide variant
(3 prime UTR variant)
Parkinson disease, late-onset
GUncertain significance
NR4A2
Single nucleotide variant
(3 prime UTR variant)
Parkinson disease, late-onset
GLikely benign
NR4A2
Single nucleotide variant
(3 prime UTR variant)
Parkinson disease, late-onset
GUncertain significance
NR4A2
Deletion
(3 prime UTR variant)
Parkinson Disease, Dominant/Recessive
+1 more
GConflicting classifications of pathogenicity
NR4A2
Single nucleotide variant
(3 prime UTR variant)
Parkinson disease, late-onset
GUncertain significance
NR4A2
Microsatellite
(3 prime UTR variant)
Parkinson Disease, Dominant/Recessive
GBenign
NR4A2
Single nucleotide variant
(3 prime UTR variant)
Parkinson disease, late-onset
GBenign
NR4A2
Single nucleotide variant
(3 prime UTR variant)
Parkinson disease, late-onset
GBenign
NR4A2
Single nucleotide variant
(3 prime UTR variant)
Parkinson disease, late-onset
GUncertain significance
NR4A2
(P534S +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
GUncertain significance
NR4A2
(L533fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
NR4A2
(I525M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NR4A2
Single nucleotide variant
(synonymous variant)
Parkinson disease, late-onset
GUncertain significance
NR4A2
(G494A +1 more)
Single nucleotide variant
(missense variant)
Complex neurodevelopmental disorder
GUncertain significance
NR4A2
Single nucleotide variant
(synonymous variant)
Parkinson disease, late-onset
GUncertain significance
NR4A2
Single nucleotide variant
(synonymous variant)
Parkinson disease, late-onset
GLikely benign
NR4A2
Single nucleotide variant
(synonymous variant)
Parkinson disease, late-onset
GUncertain significance
NR4A2
(K467Q +1 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
GUncertain significance
NR4A2
(L464V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NR4A2
(E463G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NR4A2
(E463* +1 more)
Single nucleotide variant
(nonsense)
History of neurodevelopmental disorder
Gnot provided
NR4A2
(K459N +1 more)
Single nucleotide variant
(missense variant)
Autism spectrum disorder
GLikely benign
NR4A2
Single nucleotide variant
(synonymous variant)
Parkinson disease, late-onset
GUncertain significance
NR4A2
(I437fs +1 more)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
NR4A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NR4A2
(V413L +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
GUncertain significance
NR4A2
(C412S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NR4A2
(V406fs +1 more)
Deletion
(frameshift variant)
Developmental disorder
GLikely pathogenic
NR4A2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
NR4A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NR4A2
(P362S +1 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
GUncertain significance
NR4A2
(G356C +1 more)
Single nucleotide variant
(missense variant)
NR4A2-related condition
GUncertain significance
NR4A2
(G349V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NR4A2
Single nucleotide variant
(synonymous variant)
Parkinson disease, late-onset
GUncertain significance
NR4A2
(N390K +1 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
GUncertain significance
NR4A2
(N327fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
NR4A2
(Q325L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
NR4A2
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
NR4A2
Single nucleotide variant
(intron variant)
Parkinson disease, late-onset
GUncertain significance
NR4A2
Insertion
(nonsense)
Global developmental delay
GLikely pathogenic
NR4A2
(R323T +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
GLikely pathogenic
NR4A2
(L319V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NR4A2
(V310G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NR4A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NR4A2
(S366G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
NR4A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NR4A2
Single nucleotide variant
(intron variant)
Inborn genetic diseases
GUncertain significance
NR4A2
(C260Y +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
GLikely pathogenic
NR4A2
(C323F +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
NR4A2
Indel
(nonsense)
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
GLikely pathogenic
NR4A2
(R256Q)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
GPathogenic
NR4A2
(Q253R +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
GUncertain significance
NR4A2
(C252R +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental delay
GLikely pathogenic
NR4A2
(R249W +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
GLikely pathogenic
NR4A2
(P243A +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
GUncertain significance
NR4A2
(C242Y)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
GPathogenic
NR4A2
(L237S +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
GUncertain significance
NR4A2
(C236F +1 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
GPathogenic
NR4A2
(V235L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NR4A2
(N231fs +1 more)
Duplication
(frameshift variant)
Parkinson disease, late-onset
GUncertain significance
NR4A2
(K225T +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
GLikely pathogenic
NR4A2
(K225R +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
GLikely pathogenic
NR4A2
(F224L +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
GUncertain significance
NR4A2
(G222V +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
GLikely pathogenic
NR4A2
(G222D +1 more)
Single nucleotide variant
(missense variant)
Complex neurodevelopmental disorder
GLikely pathogenic
NR4A2
(C280Y +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
GPathogenic
NR4A2
(Y212* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
NR4A2
(H211Q +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
GUncertain significance
NR4A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NR4A2
(C203W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NR4A2
(P252Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
NR4A2
Single nucleotide variant
(synonymous variant)
NR4A2-related condition
+2 more
GBenign/Likely benign
NR4A2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NR4A2
(I174del +1 more)
Deletion
(inframe_deletion)
NR4A2-related condition
GUncertain significance
NR4A2
(P170fs +1 more)
Deletion
(frameshift variant)
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
GPathogenic
NR4A2
(G231S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NR4A2
(P227L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NR4A2
(N159S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NR4A2
Single nucleotide variant
(synonymous variant)
Parkinson disease, late-onset
+1 more
GConflicting classifications of pathogenicity
NR4A2
(M202T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NR4A2
(M202V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NR4A2
(P138fs +1 more)
Duplication
(frameshift variant)
Autism spectrum disorder
GLikely pathogenic
NR4A2
(L135fs +1 more)
Deletion
(frameshift variant)
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
GPathogenic
NR4A2
Single nucleotide variant
(synonymous variant)
Parkinson disease, late-onset
GUncertain significance
NR4A2
Single nucleotide variant
(synonymous variant)
Parkinson disease, late-onset
GLikely benign
NR4A2
(G121A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NR4A2
(S108F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NR4A2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
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