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Items: 1 to 100 of 128

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A1CF, ADAMTS14
+902 more
Copy number gain
See cases
GPathogenic
LOC129390180, LOC129390181
+1008 more
Copy number gain
See cases
GPathogenic
LOC129390190, LOC129390191
+610 more
Copy number loss
See cases
GPathogenic
LOC124403968, LOC124403969
+220 more
Deletion
Intellectual developmental disorder, autosomal dominant 70
GLikely pathogenic
HERC4, HK1
+514 more
Copy number loss
See cases
GPathogenic
LOC130004125, LOC130004126
+580 more
Copy number gain
See cases
GPathogenic
DNAJC12
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
DNAJC12
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
DNAJC12
Single nucleotide variant
(stop lost)
Hyperphenylalaninemia due to DNAJC12 deficiency
GPathogenic
DNAJC12
(I198L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJC12
(E197K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DNAJC12
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAJC12
(R191T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DNAJC12
(W181S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DNAJC12
(R180H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DNAJC12
(R180C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJC12
(W175*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+3 more
GPathogenic
DNAJC12
(N173D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DNAJC12
(G168V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJC12
Microsatellite
(intron variant)
not provided
GLikely benign
DNAJC12
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAJC12
Deletion
(splice acceptor variant +1 more)
Hyperphenylalaninemia due to DNAJC12 deficiency
GPathogenic
DNAJC12
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAJC12
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAJC12
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAJC12
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DNAJC12
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DNAJC12
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DNAJC12
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
DNAJC12
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
DNAJC12
(Q162*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
DNAJC12
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAJC12
(P161T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DNAJC12
(S160F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
DNAJC12
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAJC12
(P154H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJC12
(E148K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DNAJC12
(A144S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DNAJC12
(A144T)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
DNAJC12
(E139G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJC12
(K137fs)
Microsatellite
(frameshift variant)
Hyperphenylalaninemia due to DNAJC12 deficiency
+1 more
GPathogenic/Likely pathogenic
DNAJC12
(R135G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJC12
(R133K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DNAJC12
(R133I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DNAJC12
(Q132R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJC12
(C129W)
Single nucleotide variant
(missense variant)
not provided
GBenign
DNAJC12
(M124I)
Single nucleotide variant
(missense variant)
not provided
GBenign
DNAJC12
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAJC12
(S116Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJC12
(W103C)
Single nucleotide variant
(missense variant)
Hyperphenylalaninemia due to DNAJC12 deficiency
GPathogenic
DNAJC12
(H102Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJC12
Single nucleotide variant
(splice acceptor variant)
Hyperphenylalaninemia due to DNAJC12 deficiency
GPathogenic
DNAJC12
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DNAJC12
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAJC12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DNAJC12
(A106V)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
DNAJC12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
DNAJC12
(G105S)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
DNAJC12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DNAJC12
(G101R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DNAJC12
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAJC12
(D95E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJC12
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAJC12
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAJC12
(S84W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJC12
(Q82R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJC12
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DNAJC12
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DNAJC12
(R79*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
DNAJC12
(H77Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJC12
(Y75C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DNAJC12
(R74H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJC12
(R74L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJC12
(R74C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJC12
(A73V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DNAJC12
(A73G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DNAJC12
(R72P)
Single nucleotide variant
(missense variant)
Hyperphenylalaninemia due to DNAJC12 deficiency
GPathogenic
DNAJC12
(R72*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
DNAJC12
(K63*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
DNAJC12
(T55I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJC12
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DNAJC12
Single nucleotide variant
(splice acceptor variant)
Hyperphenylalaninemia due to DNAJC12 deficiency
GPathogenic
DNAJC12
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DNAJC12
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAJC12
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DNAJC12
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
DNAJC12
(P47H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJC12
(H42Y)
Single nucleotide variant
(missense variant)
Hyperphenylalaninemia due to DNAJC12 deficiency
GUncertain significance
DNAJC12
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DNAJC12
(Q29fs)
Deletion
(frameshift variant)
not provided
GPathogenic/Likely pathogenic
DNAJC12
Single nucleotide variant
(splice acceptor variant)
Hyperphenylalaninemia due to DNAJC12 deficiency
GPathogenic
DNAJC12
Duplication
(intron variant)
not provided
GBenign
DNAJC12
Single nucleotide variant
(intron variant)
not provided
GBenign/Likely benign
DNAJC12
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DNAJC12
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DNAJC12
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DNAJC12
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAJC12
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAJC12
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAJC12
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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