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Items: 1 to 100 of 285

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129929105, LOC129929106
+2149 more
Copy number gain
Trisomy 12p
GPathogenic
ACTL8, AGMAT
+303 more
Copy number loss
See cases
GPathogenic
EMC1-AS1, FAM43B
+221 more
Copy number loss
See cases
GPathogenic
CAMK2N1, CDA
+81 more
Copy number loss
See cases
GUncertain significance
CAMK2N1, CDA
+28 more
Copy number loss
See cases
GPathogenic
DDOST, PINK1
+1 more
(N521T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+4 more
GBenign/Likely benign
DDOST, PINK1
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital disorder of glycosylation
+3 more
GBenign
DDOST, PINK1
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital disorder of glycosylation
+3 more
GBenign
DDOST, PINK1
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital disorder of glycosylation
+3 more
GBenign/Likely benign
DDOST, PINK1
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+3 more
GBenign/Likely benign
PINK1-AS, DDOST
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital disorder of glycosylation
+3 more
GBenign/Likely benign
DDOST, PINK1
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital disorder of glycosylation
+3 more
GBenign/Likely benign
DDOST, PINK1
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital disorder of glycosylation
+3 more
GBenign/Likely benign
DDOST, PINK1
+1 more
Duplication
(non-coding transcript variant +1 more)
Parkinson Disease, Recessive
+1 more
GLikely benign
DDOST, PINK1
+1 more
Duplication
(non-coding transcript variant +1 more)
Parkinson Disease, Recessive
+1 more
GLikely benign
DDOST, PINK1
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital disorder of glycosylation
+3 more
GBenign/Likely benign
DDOST, PINK1
+1 more
Microsatellite
(non-coding transcript variant +1 more)
Parkinson Disease, Recessive
+1 more
GLikely benign
PINK1-AS, DDOST
Duplication
(non-coding transcript variant +1 more)
Congenital disorder of glycosylation
GUncertain significance
DDOST, PINK1-AS
Microsatellite
(non-coding transcript variant +1 more)
Congenital disorder of glycosylation
GUncertain significance
DDOST, PINK1-AS
Microsatellite
(non-coding transcript variant +1 more)
Congenital disorder of glycosylation
GUncertain significance
PINK1-AS, DDOST
Microsatellite
(non-coding transcript variant +1 more)
Congenital disorder of glycosylation
GUncertain significance
DDOST, PINK1-AS
Microsatellite
(non-coding transcript variant +1 more)
Congenital disorder of glycosylation
GUncertain significance
DDOST, PINK1-AS
Microsatellite
(non-coding transcript variant +1 more)
Congenital disorder of glycosylation
GUncertain significance
DDOST, PINK1-AS
Microsatellite
(non-coding transcript variant +1 more)
Congenital disorder of glycosylation
GUncertain significance
DDOST, PINK1-AS
Microsatellite
(non-coding transcript variant +1 more)
Congenital disorder of glycosylation
GUncertain significance
DDOST, PINK1-AS
Microsatellite
(non-coding transcript variant +1 more)
Congenital disorder of glycosylation
GUncertain significance
DDOST, PINK1
+1 more
Microsatellite
(3 prime UTR variant +1 more)
Congenital disorder of glycosylation
+1 more
GBenign/Likely benign
PINK1-AS, DDOST
Microsatellite
(non-coding transcript variant +1 more)
Congenital disorder of glycosylation
GUncertain significance
DDOST, PINK1
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Parkinson Disease, Recessive
GLikely benign
DDOST, PINK1
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Parkinson Disease, Recessive
GLikely benign
DDOST, PINK1
+1 more
Duplication
(non-coding transcript variant +1 more)
Parkinson Disease, Recessive
+1 more
GLikely benign
DDOST, PINK1
Single nucleotide variant
(3 prime UTR variant)
Congenital disorder of glycosylation
+3 more
GBenign
DDOST
Deletion
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
Single nucleotide variant
(3 prime UTR variant)
not specified
GLikely benign
DDOST
Single nucleotide variant
(3 prime UTR variant)
DDOST-related disorder
GLikely benign
DDOST
Duplication
(3 prime UTR variant)
DDOST-related disorder
GLikely benign
DDOST
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
DDOST
(F429del)
Microsatellite
(inframe_deletion)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
(F429L)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
(F442Y +1 more)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
Gnot provided
DDOST
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
(A415T)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
+1 more
GUncertain significance
DDOST
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
DDOST
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation type Ir
+1 more
GLikely benign
DDOST
(I422fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
DDOST
(Y409C)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
DDOST
(S407L)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
(P406S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDOST
(F404L)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation type Ir
+1 more
GBenign/Likely benign
DDOST
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
(T399M)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
(R394Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDOST
(V393M)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
+1 more
GUncertain significance
DDOST
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
DDOST
(V391I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDOST
Microsatellite
(intron variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
Duplication
(intron variant)
Congenital disorder of glycosylation type Ir
+1 more
GBenign/Likely benign
DDOST
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
(H384R)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
(T400I +1 more)
Single nucleotide variant
(missense variant)
DDOST-related disorder
+2 more
GConflicting classifications of pathogenicity
DDOST
(R379Q)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
(R379W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDOST
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
(D366N)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
DDOST
Single nucleotide variant
(splice acceptor variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
Duplication
(intron variant)
Congenital disorder of glycosylation type Ir
+1 more
GBenign
DDOST
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
(K354del)
Microsatellite
(inframe_deletion)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
(I343T)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
(R342H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDOST
(R342C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDOST
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation type Ir
+1 more
GBenign/Likely benign
DDOST
(V319M)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
DDOST
Single nucleotide variant
(intron variant)
not specified
GLikely benign
DDOST
Single nucleotide variant
(intron variant)
not provided
GBenign
DDOST
Single nucleotide variant
(intron variant)
not provided
GBenign
DDOST
Single nucleotide variant
(intron variant)
not provided
GBenign
DDOST
Deletion
(intron variant)
not provided
GBenign
DDOST
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
Duplication
(intron variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
(N306S)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DDOST
(A303V)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
(R315Q +1 more)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
+1 more
GBenign
DDOST
(S295F)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
(R290L)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
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