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Links from MedGen

Items: 1 to 100 of 316

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PINK1, PINK1-AS
(D430H)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1
Single nucleotide variant
(synonymous variant)
Autosomal recessive early-onset Parkinson disease 6
GLikely benign
PINK1
Single nucleotide variant
(synonymous variant)
Autosomal recessive early-onset Parkinson disease 6
GLikely benign
PINK1, PINK1-AS
(R263K)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1
(F104fs)
Deletion
(frameshift variant)
Autosomal recessive early-onset Parkinson disease 6
GPathogenic
PINK1
Single nucleotide variant
(synonymous variant)
Autosomal recessive early-onset Parkinson disease 6
GLikely benign
PINK1
Single nucleotide variant
(synonymous variant)
Autosomal recessive early-onset Parkinson disease 6
GLikely benign
PINK1
(N223I)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1, PINK1-AS
Insertion
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GPathogenic
PINK1
Single nucleotide variant
(synonymous variant)
Autosomal recessive early-onset Parkinson disease 6
GLikely benign
PINK1
Single nucleotide variant
(intron variant)
Autosomal recessive early-onset Parkinson disease 6
GLikely benign
PINK1
Single nucleotide variant
(splice donor variant)
Autosomal recessive early-onset Parkinson disease 6
GLikely pathogenic
PINK1, PINK1-AS
Deletion
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GBenign
PINK1
(G30S)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 6
GLikely benign
PINK1, PINK1-AS
Deletion
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GLikely pathogenic
PINK1
Single nucleotide variant
(synonymous variant)
Autosomal recessive early-onset Parkinson disease 6
GLikely benign
PINK1
Single nucleotide variant
(synonymous variant)
Autosomal recessive early-onset Parkinson disease 6
GLikely benign
PINK1
Single nucleotide variant
(synonymous variant)
Autosomal recessive early-onset Parkinson disease 6
GLikely benign
PINK1
(P138Q)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1
(A38V)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1, PINK1-AS
Single nucleotide variant
(intron variant)
Autosomal recessive early-onset Parkinson disease 6
GLikely benign
PINK1, PINK1-AS
Single nucleotide variant
(synonymous variant)
Autosomal recessive early-onset Parkinson disease 6
GLikely benign
PINK1, PINK1-AS
(N367D)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1
(Q129*)
Single nucleotide variant
(nonsense)
Autosomal recessive early-onset Parkinson disease 6
GLikely pathogenic
PINK1
Single nucleotide variant
(intron variant)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1
Single nucleotide variant
(intron variant)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1
Deletion
Autosomal recessive early-onset Parkinson disease 6
GPathogenic
PINK1
Deletion
Autosomal recessive early-onset Parkinson disease 6
GLikely pathogenic
KIF17, LDLRAD2
+49 more
Duplication
Congenital disorder of glycosylation type Ir
+2 more
GUncertain significance
PINK1
Single nucleotide variant
(intron variant)
Autosomal recessive early-onset Parkinson disease 6
GLikely benign
PINK1
(Q126P)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 6
GLikely pathogenic
MIR6084, PINK1
Duplication
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1
Single nucleotide variant
(intron variant)
Autosomal recessive early-onset Parkinson disease 6
GLikely benign
PINK1, PINK1-AS
(C377F)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1, PINK1-AS
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GLikely benign
PINK1, PINK1-AS
Single nucleotide variant
(intron variant)
Autosomal recessive early-onset Parkinson disease 6
GLikely benign
PINK1, PINK1-AS
(A504T)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1
(Q129E)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1, PINK1-AS
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1
(A200V)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1
Single nucleotide variant
(synonymous variant)
Autosomal recessive early-onset Parkinson disease 6
GLikely benign
PINK1
(T133I)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1
Single nucleotide variant
(intron variant)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1
(E206K)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1
(C96W)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1, PINK1-AS
Single nucleotide variant
(synonymous variant)
Autosomal recessive early-onset Parkinson disease 6
GLikely benign
PINK1, PINK1-AS
(N451I)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1, PINK1-AS
Single nucleotide variant
(intron variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GLikely benign
PINK1
(E252K)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1, PINK1-AS
Single nucleotide variant
(intron variant)
Autosomal recessive early-onset Parkinson disease 6
GLikely benign
MIR6084, PINK1
(R58K)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
PINK1
(G105V)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1, PINK1-AS
(P305A)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1, PINK1-AS
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GLikely benign
PINK1, PINK1-AS
(L511fs)
Duplication
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GLikely pathogenic
PINK1
(P142L)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1, PINK1-AS
Single nucleotide variant
(intron variant)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1
Single nucleotide variant
(intron variant)
Autosomal recessive early-onset Parkinson disease 6
GLikely benign
PINK1, PINK1-AS
Single nucleotide variant
(synonymous variant)
Autosomal recessive early-onset Parkinson disease 6
GLikely benign
PINK1
(P138R)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1
(R246Q)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1, PINK1-AS
(G424D)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1
(V122L)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
MIR6084, PINK1
(R68P)
Indel
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1
(M237fs)
Deletion
(frameshift variant)
Autosomal recessive early-onset Parkinson disease 6
GPathogenic
PINK1
(T22M)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1-AS, PINK1
(R501*)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
PINK1, PINK1-AS
(R422H)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
+1 more
GUncertain significance
PINK1, PINK1-AS
(P425S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1
Single nucleotide variant
(intron variant)
Autosomal recessive early-onset Parkinson disease 6
GLikely benign
PINK1
(L110I)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1, PINK1-AS
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GLikely benign
PINK1
(K186E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
PINK1
Single nucleotide variant
(intron variant)
Autosomal recessive early-onset Parkinson disease 6
GLikely benign
PINK1
Single nucleotide variant
(intron variant)
Autosomal recessive early-onset Parkinson disease 6
GLikely benign
PINK1, PINK1-AS
(Q534*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GPathogenic
PINK1, PINK1-AS
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GLikely benign
PINK1
Single nucleotide variant
(intron variant)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1, PINK1-AS
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GLikely benign
PINK1, PINK1-AS
(E392D)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1, PINK1-AS
(V285M)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1, PINK1-AS
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GLikely benign
PINK1, PINK1-AS
(Q456R)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1
Single nucleotide variant
(synonymous variant)
Autosomal recessive early-onset Parkinson disease 6
GLikely benign
PINK1
Single nucleotide variant
(synonymous variant)
Autosomal recessive early-onset Parkinson disease 6
GLikely benign
PINK1, PINK1-AS
(N367H)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1, MIR6084
(R68C)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1, PINK1-AS
(L544P)
Indel
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1
Single nucleotide variant
(synonymous variant)
Autosomal recessive early-onset Parkinson disease 6
GLikely benign
PINK1
(Y171C)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1, PINK1-AS
Single nucleotide variant
(intron variant)
Autosomal recessive early-onset Parkinson disease 6
GLikely benign
PINK1, MIR6084
(G62R)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
+1 more
GUncertain significance
PINK1, PINK1-AS
(P289T)
Indel
(missense variant)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1, PINK1-AS
(A500G)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1, PINK1-AS
(P300S)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
MIR6084, PINK1
(G53D)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
MIR6084, PINK1
(G47R)
Single nucleotide variant
(non-coding transcript variant +1 more)
See cases
+3 more
GUncertain significance
PINK1
Single nucleotide variant
(synonymous variant)
Autosomal recessive early-onset Parkinson disease 6
GLikely benign
PINK1, PINK1-AS
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GLikely benign
PINK1
Single nucleotide variant
(intron variant)
Autosomal recessive early-onset Parkinson disease 6
GBenign/Likely benign
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