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Items: 1 to 100 of 172

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADGRV1, ALDH7A1
+682 more
Copy number loss
See cases
GPathogenic
LOC129994229, LOC129994230
+688 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACSL6
+1672 more
Copy number loss
See cases
GPathogenic
LOC129994389, LOC129994390
+340 more
Copy number loss
See cases
GPathogenic
LOC129389350, LOC129389351
+377 more
Copy number loss
See cases
GPathogenic
ALDH7A1, AP3S1
+317 more
Copy number loss
See cases
GPathogenic
AP3S1, ARL14EPL
+228 more
Copy number loss
See cases
GPathogenic
LOC129994580, LOC129994581
+336 more
Copy number loss
See cases
GPathogenic
DMXL1, DMXL1-DT
+84 more
Copy number gain
See cases
GUncertain significance
CEP120, CSNK1G3
+55 more
Copy number loss
See cases
GPathogenic
ALDH7A1, CEP120
+105 more
Copy number loss
See cases
GPathogenic
SNCAIP
Single nucleotide variant
(5 prime UTR variant)
Parkinson Disease, Dominant/Recessive
GUncertain significance
SNCAIP
Single nucleotide variant
(5 prime UTR variant)
Parkinson Disease, Dominant/Recessive
GUncertain significance
SNCAIP
Single nucleotide variant
(5 prime UTR variant)
Parkinson Disease, Dominant/Recessive
GBenign
SNCAIP
Single nucleotide variant
(5 prime UTR variant)
Parkinson Disease, Dominant/Recessive
GUncertain significance
SNCAIP
Single nucleotide variant
(intron variant)
Parkinson Disease, Dominant/Recessive
GUncertain significance
SNCAIP
Single nucleotide variant
(intron variant)
Parkinson Disease, Dominant/Recessive
GUncertain significance
SNCAIP
Single nucleotide variant
(5 prime UTR variant +1 more)
Parkinson Disease, Dominant/Recessive
GLikely benign
SNCAIP
Single nucleotide variant
(5 prime UTR variant +1 more)
Parkinson Disease, Dominant/Recessive
GUncertain significance
SNCAIP
(S15N)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
SNCAIP
(R12Q +1 more)
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GBenign
SNCAIP
(E16K +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SNCAIP
(R20C +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SNCAIP
(R22H +1 more)
Single nucleotide variant
(missense variant +2 more)
Parkinson Disease, Dominant/Recessive
+1 more
GLikely benign
SNCAIP
(D41G +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SNCAIP
(S46N +1 more)
Single nucleotide variant
(missense variant +2 more)
Parkinson Disease, Dominant/Recessive
GUncertain significance
SNCAIP
(N50K +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SNCAIP
(I53V +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
SNCAIP
(T111S +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SNCAIP
Single nucleotide variant
(synonymous variant +2 more)
Parkinson Disease, Dominant/Recessive
GUncertain significance
SNCAIP
Single nucleotide variant
(synonymous variant +2 more)
Parkinson Disease, Dominant/Recessive
GUncertain significance
SNCAIP
(F120L +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
SNCAIP
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
SNCAIP
Single nucleotide variant
(synonymous variant +2 more)
Parkinson Disease, Dominant/Recessive
GLikely benign
SNCAIP
(E134D +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SNCAIP
(N91S +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SNCAIP
(D143N +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SNCAIP
(K98E +1 more)
Single nucleotide variant
(missense variant +2 more)
Parkinson Disease, Dominant/Recessive
GUncertain significance
SNCAIP
(Q147K +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SNCAIP
(K101R +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SNCAIP
(G161D +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SNCAIP
(G175S +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SNCAIP
(P130S +1 more)
Single nucleotide variant
(missense variant +2 more)
Parkinson Disease, Dominant/Recessive
GUncertain significance
SNCAIP
(S137G +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SNCAIP
Single nucleotide variant
(synonymous variant +2 more)
Parkinson Disease, Dominant/Recessive
GBenign
SNCAIP
(G141R +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SNCAIP
Single nucleotide variant
(synonymous variant +2 more)
Parkinson Disease, Dominant/Recessive
GUncertain significance
SNCAIP
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
SNCAIP
Single nucleotide variant
(synonymous variant +2 more)
Parkinson Disease, Dominant/Recessive
GUncertain significance
SNCAIP
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign
SNCAIP
(N203S +1 more)
Single nucleotide variant
(missense variant +2 more)
Parkinson Disease, Dominant/Recessive
GLikely benign
SNCAIP
(P206S +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SNCAIP
Single nucleotide variant
(synonymous variant +2 more)
Parkinson Disease, Dominant/Recessive
+1 more
GBenign/Likely benign
SNCAIP
(S222L +1 more)
Single nucleotide variant
(missense variant +2 more)
Parkinson Disease, Dominant/Recessive
GLikely benign
SNCAIP
Single nucleotide variant
(synonymous variant +2 more)
Parkinson Disease, Dominant/Recessive
GLikely benign
SNCAIP
(K230E +1 more)
Single nucleotide variant
(missense variant +2 more)
Parkinson Disease, Dominant/Recessive
GUncertain significance
SNCAIP
Single nucleotide variant
(synonymous variant +2 more)
Parkinson Disease, Dominant/Recessive
GLikely benign
SNCAIP
(E237K +1 more)
Single nucleotide variant
(missense variant +2 more)
Parkinson Disease, Dominant/Recessive
GUncertain significance
SNCAIP
(K291E +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SNCAIP
(K261Q +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SNCAIP
(T309I +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SNCAIP
Single nucleotide variant
(synonymous variant +2 more)
Parkinson Disease, Dominant/Recessive
GUncertain significance
SNCAIP
(F263C +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SNCAIP
(H267R +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SNCAIP
(R269Q +1 more)
Single nucleotide variant
(missense variant +2 more)
Parkinson Disease, Dominant/Recessive
GLikely benign
SNCAIP
(L285V +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SNCAIP
(R303Q +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SNCAIP
(L316P +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SNCAIP
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
SNCAIP
(I325T +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SNCAIP
Single nucleotide variant
(splice donor variant +1 more)
Parkinson Disease, Dominant/Recessive
GUncertain significance
SNCAIP
Single nucleotide variant
(intron variant)
Parkinson Disease, Dominant/Recessive
GUncertain significance
SNCAIP
(A358V +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
SNCAIP
(A410T +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+1 more
GUncertain significance
SNCAIP
(M67T +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SNCAIP
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GBenign
SNCAIP
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
SNCAIP
(A86G +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SNCAIP
Single nucleotide variant
(synonymous variant +2 more)
Parkinson Disease, Dominant/Recessive
GUncertain significance
SNCAIP
Single nucleotide variant
(synonymous variant +2 more)
Parkinson Disease, Dominant/Recessive
+1 more
GBenign
SNCAIP
(I351T +5 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SNCAIP, MGC32805
Single nucleotide variant
(intron variant)
Parkinson Disease, Dominant/Recessive
GUncertain significance
MGC32805, SNCAIP
(E67G +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MGC32805, SNCAIP
(V393A +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MGC32805, SNCAIP
(V508I +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
MGC32805, SNCAIP
(H161R +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MGC32805, SNCAIP
(V79A +6 more)
Single nucleotide variant
(missense variant +1 more)
Parkinson Disease, Dominant/Recessive
GUncertain significance
MGC32805, SNCAIP
(A121T +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MGC32805, SNCAIP
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MGC32805, SNCAIP
(R131Q +6 more)
Single nucleotide variant
(missense variant +1 more)
Parkinson Disease, Dominant/Recessive
GUncertain significance
SNCAIP, MGC32805
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
MGC32805, SNCAIP
(E182K +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MGC32805, SNCAIP
(G150D +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
MGC32805, SNCAIP
(K209T +6 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
MGC32805, SNCAIP
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
MGC32805, SNCAIP
(S544C +6 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Parkinson Disease, Dominant/Recessive
GUncertain significance
MGC32805, SNCAIP
(R653W +6 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
MGC32805, SNCAIP
(R202Q +6 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Parkinson Disease, Dominant/Recessive
GUncertain significance
MGC32805, SNCAIP
(R621C +6 more)
Single nucleotide variant
(missense variant +1 more)
Parkinson Disease, Dominant/Recessive
+1 more
GLikely benign
MGC32805, SNCAIP
(R253H +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
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