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Items: 1 to 100 of 205

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARL8B, ARPC4
+406 more
Copy number gain
See cases
GPathogenic
LOC112935932, LOC112935963
+331 more
Copy number loss
See cases
GPathogenic
ANKRD28, ARL8B
+799 more
Copy number gain
See cases
GPathogenic
LOC129936094, LOC129936095
+647 more
Copy number gain
See cases
GPathogenic
ANKRD28, ARL8B
+962 more
Copy number gain
See cases
GPathogenic
LOC129936377, LOC129936378
+1111 more
Copy number gain
See cases
GPathogenic
LOC110120630, LOC111429626
+608 more
Copy number gain
See cases
GPathogenic
ARPC4, ARPC4-TTLL3
+307 more
Copy number gain
See cases
GPathogenic
LOC129929025, LOC129929026
+190 more
Copy number gain
See cases
GLikely pathogenic
ACAA1, ACVR2B
+730 more
Copy number gain
See cases
GPathogenic
PPARG
Single nucleotide variant
(intron variant)
Type 2 diabetes mellitus
Gassociation
PPARG
Single nucleotide variant
(intron variant)
Type 2 diabetes mellitus
Gassociation
PPARG
Single nucleotide variant
(intron variant)
Type 2 diabetes mellitus
Gassociation
PPARG
Single nucleotide variant
(5 prime UTR variant +1 more)
Obesity
+2 more
GBenign/Likely benign
PPARG
(E3G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PPARG
(I10fs)
Deletion
(frameshift variant +1 more)
PPARG-Related Disorders
GLikely pathogenic
PPARG
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
PPARG
(P12A)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GBenign/Likely benign
PPARG
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PPARG
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PPARG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PPARG
Single nucleotide variant
(intron variant)
not provided
GBenign
PPARG
Single nucleotide variant
(intron variant)
PPARG-related condition
GLikely benign
PPARG
(P12A +2 more)
Single nucleotide variant
(missense variant +1 more)
Diabetes mellitus, noninsulin-dependent, modifier of
+3 more
Grisk factor
PPARG
(S19fs +2 more)
Deletion
(frameshift variant +1 more)
Obesity
GLikely pathogenic
PPARG
(I15F +2 more)
Single nucleotide variant
(missense variant +1 more)
PPARG-related condition
+1 more
GConflicting classifications of pathogenicity
PPARG
(D21A +2 more)
Single nucleotide variant
(missense variant +1 more)
Obesity
+2 more
GUncertain significance
PPARG
(D19E +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PPARG
Single nucleotide variant
(synonymous variant +1 more)
PPARG-related condition
+1 more
GLikely benign
PPARG
(V22I +2 more)
Single nucleotide variant
(missense variant +1 more)
PPARG-related condition
GUncertain significance
PPARG
(D27N +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PPARG
(H26Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Inherited obesity
GUncertain significance
PPARG
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PPARG
Single nucleotide variant
(synonymous variant +1 more)
PPARG-related condition
GLikely benign
PPARG
(E51K +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
PPARG
Single nucleotide variant
(synonymous variant +1 more)
Obesity
+4 more
GConflicting classifications of pathogenicity
PPARG
(T56P +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PPARG
(A61T +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PPARG
Single nucleotide variant
(synonymous variant +1 more)
Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension
+2 more
GUncertain significance
PPARG
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
PPARG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PPARG
Single nucleotide variant
(synonymous variant +1 more)
PPARG-related condition
GLikely benign
PPARG
(P85Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PPARG
(Y116* +2 more)
Single nucleotide variant
(nonsense +1 more)
PPARG-related familial partial lipodystrophy
GPathogenic
PPARG
(T90S +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PPARG
Single nucleotide variant
(synonymous variant +1 more)
PPARG-related condition
GLikely benign
PPARG
(N132T +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PPARG
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PPARG
(M105I +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PPARG
(R112H +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PPARG
(V111I +2 more)
Single nucleotide variant
(missense variant +1 more)
PPARG-related condition
GUncertain significance
PPARG
Single nucleotide variant
(synonymous variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
PPARG
(G118E +2 more)
Single nucleotide variant
(missense variant +1 more)
PPARG-related familial partial lipodystrophy
GLikely pathogenic
PPARG
(H120R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PPARG
(Y121C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
PPARG
(E129G +2 more)
Single nucleotide variant
(missense variant +1 more)
PPARG-related familial partial lipodystrophy
GLikely pathogenic
PPARG
(K132M +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PPARG
Single nucleotide variant
(intron variant)
PPARG-related condition
+1 more
GLikely benign
PPARG
Single nucleotide variant
(intron variant)
not provided
GBenign
PPARG
Deletion
(intron variant)
not provided
GBenign
PPARG
Single nucleotide variant
(intron variant)
not provided
GBenign
PPARG
Single nucleotide variant
(intron variant)
not provided
GBenign
PPARG
Single nucleotide variant
(intron variant)
PPARG-related condition
+1 more
GLikely benign
PPARG
Duplication
(intron variant)
not provided
+1 more
GLikely benign
PPARG
Single nucleotide variant
(intron variant)
PPARG-related condition
GLikely benign
PPARG
Single nucleotide variant
(intron variant)
not provided
+4 more
GConflicting classifications of pathogenicity
PPARG
(G133V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPARG
Single nucleotide variant
(synonymous variant +1 more)
PPARG-related familial partial lipodystrophy
+3 more
GConflicting classifications of pathogenicity
PPARG
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
PPARG
Single nucleotide variant
(synonymous variant +1 more)
Obesity
+4 more
GConflicting classifications of pathogenicity
PPARG
(K140N +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PPARG
(Y145C +3 more)
Single nucleotide variant
(missense variant +1 more)
PPARG-related condition
+1 more
GUncertain significance
PPARG
(D146G +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PPARG
(T2I)
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PPARG
(I5T)
Single nucleotide variant
(synonymous variant +1 more)
PPARG-related condition
GLikely benign
PPARG
(G9R +3 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PPARG
(H155Y +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PPARG
(S186fs +2 more)
Deletion
(frameshift variant)
Carcinoma of colon
GPathogenic
PPARG
(K13fs +3 more)
Indel
(frameshift variant)
Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension
+1 more
GPathogenic
PPARG
(S156G +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PPARG
(C190S +3 more)
Single nucleotide variant
(missense variant)
PPARG-related familial partial lipodystrophy
GPathogenic
PPARG
(R194W +2 more)
Single nucleotide variant
(missense variant +1 more)
PPARG-related familial partial lipodystrophy
GPathogenic
PPARG
(R166Q +3 more)
Single nucleotide variant
(missense variant)
PPARG-related familial partial lipodystrophy
GLikely pathogenic
PPARG
(S174P +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPARG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC114803475, PPARG
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC114803475, PPARG
Single nucleotide variant
(intron variant)
PPARG-related condition
GLikely benign
LOC114803475, PPARG
Single nucleotide variant
(splice acceptor variant +1 more)
PPARG-related familial partial lipodystrophy
GPathogenic
LOC114803475, PPARG
Duplication
(inframe_insertion +1 more)
not provided
GUncertain significance
LOC114803475, PPARG
(R182W +2 more)
Single nucleotide variant
(missense variant +1 more)
Carotid intimal medial thickness 1
+2 more
GConflicting classifications of pathogenicity
LOC114803475, PPARG
(R184Q +2 more)
Single nucleotide variant
(missense variant +1 more)
PPARG-related familial partial lipodystrophy
GLikely pathogenic
LOC114803475, PPARG
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LOC114803475, PPARG
Single nucleotide variant
(synonymous variant +1 more)
not specified
GUncertain significance
PPARG, LOC114803475
(S197N +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC114803475, PPARG
(D230N +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC114803475, PPARG
(E205fs +2 more)
Microsatellite
(frameshift variant +1 more)
PPARG-related familial partial lipodystrophy
GLikely pathogenic
LOC114803475, PPARG
(E205fs +2 more)
Indel
(frameshift variant +1 more)
PPARG-related familial partial lipodystrophy
GLikely pathogenic
LOC114803475, PPARG
Single nucleotide variant
(synonymous variant +1 more)
PPARG-related condition
GLikely benign
LOC114803475, PPARG
(A237T +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC114803475, PPARG
(R210P +2 more)
Single nucleotide variant
(missense variant +1 more)
PPARG-related familial partial lipodystrophy
GLikely pathogenic
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