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Links from MedGen

Items: 83

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PARK7
Single nucleotide variant
(synonymous variant)
Autosomal recessive early-onset Parkinson disease 7
GLikely benign
PARK7
Single nucleotide variant
(intron variant)
Autosomal recessive early-onset Parkinson disease 7
GLikely benign
PARK7
Single nucleotide variant
(synonymous variant)
Autosomal recessive early-onset Parkinson disease 7
GLikely benign
PARK7
Deletion
Autosomal recessive early-onset Parkinson disease 7
GPathogenic
PARK7
Single nucleotide variant
(intron variant)
Autosomal recessive early-onset Parkinson disease 7
GUncertain significance
PARK7
(L172Q)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 7
GUncertain significance
PARK7
(R48C)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 7
GUncertain significance
PARK7
Single nucleotide variant
(synonymous variant)
Autosomal recessive early-onset Parkinson disease 7
GLikely benign
PARK7
(A165V)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 7
GUncertain significance
PARK7
Single nucleotide variant
(synonymous variant)
Autosomal recessive early-onset Parkinson disease 7
GLikely benign
PARK7
(V35I)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 7
GUncertain significance
PARK7
Single nucleotide variant
(synonymous variant)
Autosomal recessive early-onset Parkinson disease 7
GLikely benign
PARK7
Single nucleotide variant
(synonymous variant)
Autosomal recessive early-onset Parkinson disease 7
GLikely benign
PARK7
Single nucleotide variant
(intron variant)
Autosomal recessive early-onset Parkinson disease 7
GLikely benign
PARK7
Single nucleotide variant
(intron variant)
Autosomal recessive early-onset Parkinson disease 7
GLikely benign
PARK7
Single nucleotide variant
(intron variant)
Autosomal recessive early-onset Parkinson disease 7
GLikely benign
PARK7
(S161T)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 7
GUncertain significance
PARK7
(D149fs)
Duplication
(frameshift variant)
Autosomal recessive early-onset Parkinson disease 7
GUncertain significance
PARK7
Single nucleotide variant
(intron variant)
Autosomal recessive early-onset Parkinson disease 7
GLikely benign
PARK7
Single nucleotide variant
(intron variant)
Autosomal recessive early-onset Parkinson disease 7
GLikely benign
PARK7
Microsatellite
(intron variant)
Autosomal recessive early-onset Parkinson disease 7
GLikely benign
PARK7
Duplication
(intron variant)
Autosomal recessive early-onset Parkinson disease 7
GBenign
PARK7
Microsatellite
(intron variant)
Autosomal recessive early-onset Parkinson disease 7
GLikely benign
PARK7
Single nucleotide variant
(intron variant)
Autosomal recessive early-onset Parkinson disease 7
GLikely benign
PARK7
Single nucleotide variant
(intron variant)
Autosomal recessive early-onset Parkinson disease 7
GBenign
PARK7
(T110A)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 7
GUncertain significance
PARK7
Single nucleotide variant
(synonymous variant)
Autosomal recessive early-onset Parkinson disease 7
GUncertain significance
PARK7
(I91V)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 7
GUncertain significance
PARK7
(V146G)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 7
GUncertain significance
PARK7
(K132R)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 7
GUncertain significance
PARK7
(R28*)
Single nucleotide variant
(nonsense)
Autosomal recessive early-onset Parkinson disease 7
GPathogenic
PARK7
(G78D)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 7
GUncertain significance
PARK7
(S85P)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 7
GUncertain significance
PARK7
(G108S)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 7
GPathogenic
PARK7
(L101P)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 7
GLikely pathogenic
PARK7
(R28Q)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 7
GLikely pathogenic
PARK7
Single nucleotide variant
(synonymous variant)
Autosomal recessive early-onset Parkinson disease 7
GLikely benign
PARK7
Single nucleotide variant
(intron variant)
Autosomal recessive early-onset Parkinson disease 7
GLikely benign
PARK7
(A6S)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 7
GUncertain significance
PARK7
(P158del)
Deletion
(inframe_deletion)
not provided
+1 more
GConflicting classifications of pathogenicity
PARK7
(T19M)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 7
GUncertain significance
PARK7
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive early-onset Parkinson disease 7
GUncertain significance
PARK7
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive early-onset Parkinson disease 7
+1 more
GLikely benign
PARK7
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive early-onset Parkinson disease 7
GUncertain significance
PARK7
(I168V)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 7
+1 more
GUncertain significance
PARK7
(S142F)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 7
GUncertain significance
PARK7
(I31V)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 7
GUncertain significance
PARK7
Single nucleotide variant
(intron variant)
Autosomal recessive early-onset Parkinson disease 7
GUncertain significance
PARK7
(A179T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PARK7
(T34I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PARK7
Duplication
(splice donor variant)
Autosomal recessive early-onset Parkinson disease 7
GLikely pathogenic
PARK7
Single nucleotide variant
(intron variant)
Autosomal recessive early-onset Parkinson disease 7
+1 more
GLikely benign
PARK7
Single nucleotide variant
(synonymous variant)
Autosomal recessive early-onset Parkinson disease 7
+1 more
GConflicting classifications of pathogenicity
PARK7
(A56T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
PARK7
Duplication
(intron variant)
Autosomal recessive early-onset Parkinson disease 7
+1 more
GLikely benign
PARK7
Duplication
Autosomal recessive early-onset Parkinson disease 7
GUncertain significance
PARK7
(L10V)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 7
GUncertain significance
PARK7
(A104T)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 7
GUncertain significance
PARK7
Deletion
Autosomal recessive early-onset Parkinson disease 7
GPathogenic
PARK7
(A171S)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 7
GUncertain significance
PARK7
(G150S)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 7
GUncertain significance
PARK7
(A36fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
PARK7
Single nucleotide variant
(intron variant)
Autosomal recessive early-onset Parkinson disease 7
GLikely benign
PARK7
(R98Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
PARK7
(E64fs)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic
PARK7
(E163K)
Duplication
(intron variant +1 more)
Autosomal recessive early-onset Parkinson disease 7
GPathogenic
PARK7
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive early-onset Parkinson disease 7
GUncertain significance
PARK7
(A167G)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 7
GUncertain significance
PARK7
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PARK7
Single nucleotide variant
(synonymous variant)
Autosomal recessive early-onset Parkinson disease 7
+2 more
GBenign/Likely benign
PARK7
(G75S)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 7
GUncertain significance
PARK7
(V25I)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 7
GUncertain significance
PARK7
(V20A)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 7
GUncertain significance
PARK7
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GBenign
PARK7
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive early-onset Parkinson disease 7
GUncertain significance
PARK7
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GBenign
PARK7
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive early-onset Parkinson disease 7
GUncertain significance
PARK7
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive early-onset Parkinson disease 7
GBenign
PARK7
(E64D)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 7
GPathogenic
PARK7
(D149A)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 7
GLikely benign
PARK7
(M26I)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 7
GPathogenic
PARK7
(L166P)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 7
GPathogenic
PARK7
Deletion
Autosomal recessive early-onset Parkinson disease 7
GPathogenic
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