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Links from Gene

Items: 1 to 100 of 256

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PINK1, PINK1-AS
(R302C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PINK1, PINK1-AS
(A269V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PINK1, PINK1-AS
(K526E)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
PINK1, PINK1-AS
(Q491P)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
PINK1, PINK1-AS
(L396R)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
PINK1, PINK1-AS
(S393R)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GLikely benign
PINK1, PINK1-AS
(P336A)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
PINK1, PINK1-AS
(D430H)
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)
PINK1-related disorder
GLikely benign
PINK1, PINK1-AS
(R263K)
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, PINK1-AS
Deletion
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GBenign
PINK1, PINK1-AS
Deletion
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GLikely pathogenic
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
A2ML1-AS2, A3GALT2
+2151 more
Copy number gain
Trisomy 12p
GPathogenic
PINK1, PINK1-AS
(F315L)
Single nucleotide variant
(missense variant)
Neuroblastoma
GUncertain significance
PINK1, PINK1-AS
Single nucleotide variant
(splice acceptor variant)
PINK1-related disorder
GLikely pathogenic
PINK1, PINK1-AS
(N367D)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1, PINK1-AS
(R407L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
PINK1, PINK1-AS
(I275V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PINK1, PINK1-AS
(K262N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PINK1, PINK1-AS
(T333I)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
PINK1, PINK1-AS
(N367Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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-AS, PINK1
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, PINK1-AS
Single nucleotide variant
(non-coding transcript variant +1 more)
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
(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
(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, PINK1-AS
Single nucleotide variant
(intron 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
(G424D)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1, PINK1-AS
(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, PINK1-AS
Single nucleotide variant
(non-coding transcript variant +1 more)
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, 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
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1, PINK1-AS
(N367H)
Single nucleotide variant
(missense variant)
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, PINK1-AS
Single nucleotide variant
(intron variant)
Autosomal recessive early-onset Parkinson disease 6
GLikely benign
PINK1, PINK1-AS
(P289T)
Indel
(missense variant)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1, PINK1-AS
(G395S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
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
Single nucleotide variant
(non-coding transcript variant)
Leprosy, susceptibility to, 1
GUncertain risk allele
PINK1, PINK1-AS
(P300S)
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
Single nucleotide variant
(non-coding transcript variant +1 more)
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, PINK1-AS
Single nucleotide variant
(intron variant)
Autosomal recessive early-onset Parkinson disease 6
GLikely benign
PINK1, PINK1-AS
Deletion
(intron 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, 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
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GLikely benign
PINK1, PINK1-AS
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GLikely benign
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
Single nucleotide variant
(non-coding transcript variant +1 more)
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, 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
(non-coding transcript variant +1 more)
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, PINK1-AS
Single nucleotide variant
(intron variant)
Autosomal recessive early-onset Parkinson disease 6
GLikely benign
PINK1, PINK1-AS
(R337C)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1, PINK1-AS
(H515R)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
PINK1, PINK1-AS
(S301L)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1, PINK1-AS
(A269T)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1, PINK1-AS
(R422C)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1, PINK1-AS
(R543G)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1, PINK1-AS
(M342V)
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
GUncertain significance
PINK1, PINK1-AS
(R407W)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1, PINK1-AS
(R492Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1, PINK1-AS
(A536S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1, PINK1-AS
(V418M)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1, PINK1-AS
(D481V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1, PINK1-AS
(R464H)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1, PINK1-AS
(C323Y)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1, PINK1-AS
(Y444fs)
Deletion
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GPathogenic
PINK1-AS, PINK1
(P374R)
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, PINK1-AS
Single nucleotide variant
(intron variant)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1, PINK1-AS
(M527V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1, PINK1-AS
(A537T)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
PINK1, PINK1-AS
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
PINK1-AS, PINK1
(M342L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
PINK1, PINK1-AS
(P286L)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 6
+1 more
GUncertain significance
PINK1, PINK1-AS
(R302H)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 6
+2 more
GUncertain significance
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