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Links from MedGen

Items: 1 to 100 of 150

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADH1C
(I356V)
Single nucleotide variant
(missense variant +1 more)
Parkinson disease, late-onset
GUncertain significance
GLUD2
(V86M)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
GUncertain significance
GBA1, LOC106627981
(I212N +2 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
GLikely pathogenic
GBA1, LOC106627981
(R78C)
Single nucleotide variant
(missense variant +1 more)
Parkinson disease, late-onset
+1 more
GUncertain significance
GBA1, LOC106627981
Single nucleotide variant
(3 prime UTR variant)
Gaucher disease type II
+6 more
GLikely benign
GBA1
Deletion
Parkinson disease, late-onset
GLikely pathogenic
NR4A2
(C236F +1 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
GPathogenic
MAPT
(R546C +6 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia
+4 more
GUncertain significance
MAPT
(P4T)
Single nucleotide variant
(missense variant +1 more)
Supranuclear palsy, progressive, 1
+4 more
GUncertain significance
GBA1, LOC106627981
(H442R +2 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
GUncertain significance
RFC1
Microsatellite
Parkinson disease, late-onset
GPathogenic
GBA1, LOC106627981
(D351H +2 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
GLikely pathogenic
GBA1
(S4P)
Single nucleotide variant
(missense variant +1 more)
Gaucher disease type II
+7 more
GUncertain significance
GBA1, LOC106627981
(A261G +2 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
MAPT
(V242I +5 more)
Single nucleotide variant
(intron variant +1 more)
Frontotemporal dementia
+5 more
GBenign/Likely benign
GBA1, LOC106627981
(W330G +2 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(M313I +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type II
+7 more
GUncertain significance
LOC106627981, GBA1
(T362M +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
+7 more
GUncertain significance
MAPT
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia
+4 more
GLikely benign
GBA1, LOC106627981
(R115* +2 more)
Single nucleotide variant
(nonsense)
GBA1-related disorder
+3 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(S125* +2 more)
Single nucleotide variant
(nonsense)
Gaucher disease
+2 more
GPathogenic
GBA1, LOC106627981
(T69fs)
Duplication
(frameshift variant +1 more)
Gaucher disease
+9 more
GPathogenic/Likely pathogenic
MAPT
(T30I)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
+4 more
GUncertain significance
GBA1, LOC106627981
(P134T +2 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
+7 more
GPathogenic/Likely pathogenic
NR4A2
(N231fs +1 more)
Duplication
(frameshift variant)
Parkinson disease, late-onset
GUncertain significance
LOC130008791, ATXN2
+1 more
Microsatellite
Parkinson disease, late-onset
+1 more
GPathogenic; risk factor
DTD2, GPR33
+2 more
Complex
Parkinson disease, late-onset
GPathogenic
GBA1, LOC106627981
(P218fs +2 more)
Deletion
(frameshift variant)
Parkinson disease, late-onset
+7 more
GPathogenic/Likely pathogenic
NR4A2
(Q109K +1 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
GUncertain significance
NR4A2
(Q109E +1 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
GUncertain significance
NR4A2
Single nucleotide variant
(synonymous variant)
Parkinson disease, late-onset
GUncertain significance
NR4A2
Single nucleotide variant
(synonymous variant)
Parkinson disease, late-onset
GUncertain significance
NR4A2
Single nucleotide variant
(synonymous variant)
Parkinson disease, late-onset
GUncertain significance
NR4A2
(Q325L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
NR4A2
(N390K +1 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
GUncertain significance
NR4A2
Single nucleotide variant
(synonymous variant)
Parkinson disease, late-onset
GUncertain significance
NR4A2
(P362S +1 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
GUncertain significance
NR4A2
Single nucleotide variant
(synonymous variant)
Parkinson disease, late-onset
GUncertain significance
NR4A2
Single nucleotide variant
Parkinson disease, late-onset
GUncertain significance
NR4A2
(K467Q +1 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
GUncertain significance
NR4A2
Single nucleotide variant
(synonymous variant)
Parkinson disease, late-onset
GLikely benign
NR4A2
Single nucleotide variant
(5 prime UTR variant)
Parkinson disease, late-onset
GUncertain significance
LOC129934941, NR4A2
Single nucleotide variant
(5 prime UTR variant)
Parkinson disease, late-onset
GUncertain significance
LOC129934941, NR4A2
Single nucleotide variant
(5 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
GUncertain significance
NR4A2
Single nucleotide variant
(3 prime UTR variant)
Parkinson disease, late-onset
GLikely benign
PSAP
(N157S)
Single nucleotide variant
(missense variant)
Sphingolipid activator protein 1 deficiency
GUncertain significance
DNAJB6
(T193A)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
GBA1, LOC106627981
(R229C +2 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
GBA1
Copy number loss
Parkinson disease, late-onset
GPathogenic
GBA1, LOC106627981
(R83C)
Single nucleotide variant
(missense variant +1 more)
not specified
+8 more
GUncertain significance
GBA1, LOC106627981
(V499M +2 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
GBA1, LOC106627981
(S376T +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
+6 more
GUncertain significance
GBA1, LOC106627981
(T75del)
Deletion
(inframe_deletion +1 more)
Parkinson disease, late-onset
+8 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
Single nucleotide variant
(splice acceptor variant)
Parkinson disease, late-onset
+7 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(L150fs +2 more)
Deletion
(frameshift variant)
Parkinson disease, late-onset
+9 more
GPathogenic
GBA1, LOC106627981
(W218* +2 more)
Single nucleotide variant
(nonsense)
Gaucher disease type I
+2 more
GPathogenic
GBA1, LOC106627981
(W432R +2 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
GPathogenic
GBA1, LOC106627981
(S310G +2 more)
Single nucleotide variant
(missense variant)
Lewy body dementia
+7 more
GPathogenic/Likely pathogenic
LOC106627981, GBA1
Indel
(intron variant)
Gaucher disease perinatal lethal
+7 more
GUncertain significance
ATXN8OS, ATXN8
Microsatellite
Parkinson disease, late-onset
+1 more
GPathogenic; risk factor
LOC108663996, TBP
Microsatellite
Spinocerebellar ataxia type 17
+1 more
GPathogenic; risk factor
MAPT
(G16V)
Single nucleotide variant
(missense variant +1 more)
Parkinson disease, late-onset
+3 more
GUncertain significance
GBA1
(S35L)
Single nucleotide variant
(missense variant +1 more)
Gaucher disease
+8 more
GUncertain significance
GBA1, LOC106627981
Single nucleotide variant
(synonymous variant)
not provided
+7 more
GConflicting classifications of pathogenicity
GBA1, LOC106627981
(W351S +2 more)
Single nucleotide variant
(missense variant)
Lewy body dementia
+7 more
GLikely pathogenic
MAPT
(S273P +1 more)
Single nucleotide variant
(missense variant +1 more)
Supranuclear palsy, progressive, 1
+6 more
GUncertain significance
MAPT
(A297V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GUncertain significance
Gaucher disease type I
GLikely pathogenic
Gaucher disease type I
GLikely pathogenic
NR4A2
Single nucleotide variant
Parkinson disease, late-onset
GUncertain significance
NR4A2
Single nucleotide variant
(5 prime UTR variant)
Parkinson disease, late-onset
GUncertain significance
LOC129934941, NR4A2
Single nucleotide variant
(5 prime UTR variant)
Parkinson disease, late-onset
GUncertain significance
LOC129934941, NR4A2
Single nucleotide variant
(5 prime UTR variant)
Parkinson disease, late-onset
GUncertain significance
LOC129934941, NR4A2
Single nucleotide variant
(5 prime UTR variant)
Parkinson disease, late-onset
GLikely benign
LOC129934941, NR4A2
Single nucleotide variant
(5 prime UTR variant)
Parkinson disease, late-onset
GUncertain significance
LOC129934941, NR4A2
Single nucleotide variant
(5 prime UTR 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
+1 more
GConflicting classifications of pathogenicity
NR4A2
Single nucleotide variant
(synonymous variant)
NR4A2-related condition
+2 more
GBenign/Likely benign
NR4A2
Single nucleotide variant
(intron variant)
Parkinson disease, late-onset
GUncertain significance
NR4A2
Single nucleotide variant
(synonymous variant)
Parkinson disease, late-onset
GUncertain significance
NR4A2
Single nucleotide variant
(synonymous variant)
Parkinson disease, late-onset
GUncertain significance
NR4A2
Single nucleotide variant
(synonymous 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
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
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
Parkinson disease, late-onset
GUncertain significance
MAPT
Single nucleotide variant
(intron variant)
Parkinson disease, late-onset
+7 more
GBenign
GBA1, LOC106627981
Single nucleotide variant
(synonymous variant)
not specified
+8 more
GLikely benign
LRRK2
(R1441S)
Single nucleotide variant
(missense variant)
Autosomal dominant Parkinson disease 8
GLikely pathogenic
PODXL
(R326Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PODXL
(S405N +1 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
GUncertain significance
PODXL
(P461T +1 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
GUncertain significance
GBA1, LOC106627981
(I407T +2 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
GUncertain significance
GBA1, LOC106627981
(P426L +2 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
GUncertain significance
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