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Links from Gene

Items: 1 to 100 of 128

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PTPRA, VPS16
(Y494* +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
PTPRA, VPS16
(R687W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTPRA, VPS16
(T818M +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PTPRA
(A644T +14 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTPRA
(P277L +5 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PTPRA
(T78S +1 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
PTPRA, VPS16
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
ADAM33, ADISSP
+36 more
Duplication
not provided
GUncertain significance
PTPRA, VPS16
(C619R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PTPRA, VPS16
(A690E +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PTPRA, VPS16
(R661Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PTPRA, VPS16
(D685V +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
PTPRA, VPS16
(R538C +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
PTPRA, VPS16
(R499H +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
PTPRA, VPS16
(S401L +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
PTPRA
(V168M +5 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PTPRA
(A165V +5 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PTPRA
(P120T +1 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
PTPRA
(G593S +14 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTPRA
(E550K +12 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126862954, PTPRA
(I464V +12 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTPRA
(N391S +12 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTPRA
(V144L +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PTPRA
(V427M +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PTPRA
(A236T +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
OXT, PANK2
+33 more
Copy number gain
not specified
GUncertain significance
THBD, TMC2
+164 more
Copy number gain
not provided
GPathogenic
TMEM74B, TMX4
+114 more
Copy number gain
not provided
GPathogenic
ADAM33, ADISSP
+100 more
Copy number gain
not provided
GPathogenic
PTPRA, VPS16
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PTPRA, VPS16
(R534L +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
PTPRA, VPS16
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
PTPRA, VPS16
(R461Q +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
PTPRA, VPS16
(E396K +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
VPS16-related disorder
GUncertain significance
PTPRA, VPS16
(A657P +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PTPRA, VPS16
(R531Q +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
PTPRA
(H587Q +14 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAM33, ADISSP
+731 more
Copy number gain
Renal agenesis
GPathogenic
PTPRA, VPS16
(W584R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
PTPRA, VPS16
(E567K +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC126862954, PTPRA
(I463V +12 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTPRA, VPS16
(A591T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PTPRA
(T106M +1 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
PTPRA, VPS16
(M448fs +1 more)
Duplication
(5 prime UTR variant +1 more)
not provided
GUncertain significance
PTPRA, VPS16
(A456fs +1 more)
Deletion
(5 prime UTR variant +1 more)
not provided
GUncertain significance
PTPRA, VPS16
(L561V +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
PTPRA
(E530D +12 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTPRA
(K460R +14 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTPRA
(D490N +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PTPRA
(V609I +14 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAVS, OXT
+36 more
Copy number loss
See cases
GLikely pathogenic
PTPRA, VPS16
Single nucleotide variant
(intron variant)
See cases
GLikely pathogenic
CDS2, CENPB
+60 more
Duplication
Pigmentary pallidal degeneration
+1 more
GUncertain significance
PTPRA
(S206N +5 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
PTPRA
(D110G +1 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
PTPRA, VPS16
(R537Q +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
VPS16, PTPRA
(R537P +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
PTPRA, VPS16
(R567H +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
PTPRA
(D349Y +12 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTPRA
(V390M +14 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTPRA, VPS16
(R661W +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PTPRA
(S631R +14 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTPRA
(D2V +1 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
PTPRA
(I101M +1 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
PTPRA
(E133K +1 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
PTPRA, VPS16
(K609M +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
PTPRA
(V382I +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PTPRA
(N278K +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PTPRA
(V680A +12 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTPRA
(I611S +14 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTPRA, VPS16
(G569R +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
PTPRA, VPS16
(R544C +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
PTPRA
(N179S +5 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PTPRA
(V216M +5 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PTPRA
(R243W +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PTPRA
(R628G +14 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTPRA
(N80S +1 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
PTPRA, VPS16
(R681W +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
PTPRA, VPS16
(L696P +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
PTPRA, VPS16
(R711C +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
PTPRA, VPS16
(M411V +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC126862954, PTPRA
(I303V +12 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTPRA
(G22V +1 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
PTPRA
(N174S +5 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
AVP, GNRH2
+4 more
Copy number gain
not provided
GUncertain significance
AVP, GNRH2
+3 more
Copy number gain
not provided
GUncertain significance
VPS16, PTPRA
(N519fs +1 more)
Insertion
(5 prime UTR variant +1 more)
Dystonia 30
GLikely pathogenic
PTPRA, VPS16
(E470K +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
SPEF1, UBOX5
+26 more
Copy number gain
See cases
GUncertain significance
PTPRA, VPS16
Single nucleotide variant
(intron variant)
Dystonia 30
GUncertain significance
PTPRA, VPS16
(L507R +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
PTPRA, VPS16
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
PTPRA, VPS16
Single nucleotide variant
(intron variant)
not provided
GBenign
PTPRA, VPS16
Single nucleotide variant
(intron variant)
not provided
GBenign
VPS16, PTPRA
(R503* +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GConflicting classifications of pathogenicity
PTPRA, VPS16
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
PTPRA, VPS16
(R491* +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Dystonia 30
+1 more
GPathogenic
OXT, LZTS3
+26 more
Copy number gain
not provided
GUncertain significance
AVP, GNRH2
+3 more
Copy number gain
not provided
GUncertain significance
CDC25B, AVP
+26 more
Copy number loss
not provided
GUncertain significance
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