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Items: 1 to 100 of 136

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129931453, LOC129931454
+1585 more
Copy number gain
See cases
GPathogenic
ADAMTS4, ADCY10
+775 more
Copy number gain
See cases
GPathogenic
ADAMTS4, ALDH9A1
+371 more
Copy number loss
See cases
GPathogenic
ADCY10, ALDH9A1
+406 more
Copy number loss
See cases
GPathogenic
LOC129931815, LOC129931816
+151 more
Copy number loss
See cases
GPathogenic
LOC129388624, LOC129388625
+407 more
Copy number loss
See cases
GPathogenic
ALDH9A1, LMX1A
+28 more
Copy number loss
See cases
GUncertain significance
PBX1
(G13fs)
Duplication
(frameshift variant +1 more)
PBX1-related disorder
GUncertain significance
PBX1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PBX1
(H11R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PBX1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PBX1
(G18*)
Single nucleotide variant
(nonsense +1 more)
See cases
GPathogenic
PBX1
(G21S)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
PBX1
(S23fs)
Deletion
(frameshift variant +1 more)
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
GPathogenic
PBX1
(L26*)
Single nucleotide variant
(nonsense +1 more)
PBX1-related disorder
GLikely pathogenic
PBX1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
PBX1
(G31V)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
PBX1
(G38E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PBX1
(Q41*)
Single nucleotide variant
(nonsense +1 more)
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
GPathogenic
PBX1
(L47fs)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
PBX1
(Q49*)
Single nucleotide variant
(nonsense +1 more)
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
GLikely pathogenic
PBX1
(I53fs)
Duplication
(frameshift variant +1 more)
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
GLikely pathogenic
PBX1
(A63S +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PBX1
Microsatellite
(intron variant)
not provided
GLikely benign
PBX1
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+1 more
GLikely benign
PBX1
Deletion
(splice donor variant +1 more)
not provided
GLikely pathogenic
PBX1
Single nucleotide variant
(splice donor variant +1 more)
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
GLikely pathogenic
PBX1
Insertion
(intron variant)
not provided
+1 more
GBenign
PBX1
(S8R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PBX1
(R10* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
PBX1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PBX1
(L105Q +1 more)
Single nucleotide variant
(missense variant)
PBX1-related disorder
GUncertain significance
PBX1
(R107fs +1 more)
Duplication
(frameshift variant)
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
GPathogenic
PBX1
(R107Q +1 more)
Single nucleotide variant
(missense variant)
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
GLikely pathogenic
PBX1
(R107P +1 more)
Single nucleotide variant
(missense variant)
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
GLikely pathogenic
PBX1
(M111V +1 more)
Single nucleotide variant
(missense variant)
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
GUncertain significance
PBX1
(M111K +1 more)
Single nucleotide variant
(missense variant)
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
GUncertain significance
PBX1
(V117L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PBX1
(G42fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
PBX1
Microsatellite
(inframe_insertion)
not provided
GUncertain significance
PBX1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PBX1
(A131fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
PBX1
Microsatellite
(inframe_insertion)
not provided
GUncertain significance
PBX1
(G138fs +1 more)
Deletion
(frameshift variant)
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
GPathogenic
PBX1
(S141* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PBX1
(N143fs +1 more)
Deletion
(frameshift variant)
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
GPathogenic
PBX1
(Y168F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PBX1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PBX1
Single nucleotide variant
(splice acceptor variant)
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
GPathogenic
PBX1
(N181S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PBX1
(L182P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PBX1
(R184* +1 more)
Single nucleotide variant
(nonsense)
Autism spectrum disorder
GPathogenic
PBX1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PBX1
Deletion
(inframe_deletion)
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
GLikely pathogenic
PBX1
(R123fs +1 more)
Deletion
(frameshift variant)
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Gnot provided
PBX1
(K124fs +1 more)
Duplication
(frameshift variant)
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
GLikely pathogenic
PBX1
(S126R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PBX1
(I128fs +1 more)
Deletion
(frameshift variant)
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
GPathogenic
PBX1
(Q129* +1 more)
Single nucleotide variant
(nonsense)
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
GLikely pathogenic
PBX1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PBX1
(K133* +1 more)
Single nucleotide variant
(nonsense)
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
GLikely pathogenic
PBX1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PBX1
(C137* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PBX1
(E221* +1 more)
Single nucleotide variant
(nonsense)
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
GPathogenic
PBX1
(V140fs +1 more)
Duplication
(frameshift variant)
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
GPathogenic
PBX1
(R227P +1 more)
Single nucleotide variant
(missense variant)
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
GPathogenic
PBX1
(R146* +1 more)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
GPathogenic
PBX1
(R151W +1 more)
Single nucleotide variant
(missense variant)
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
GConflicting classifications of pathogenicity
PBX1
(R234Q +1 more)
Single nucleotide variant
(missense variant)
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
GLikely pathogenic
PBX1
(R234P +1 more)
Single nucleotide variant
(missense variant)
PBX1-related intellectual disability and pleiotropic developmental defects
GLikely pathogenic
PBX1
Single nucleotide variant
(splice donor variant)
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
GLikely pathogenic
PBX1
Single nucleotide variant
(intron variant)
PBX1-related disorder
GLikely benign
PBX1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PBX1
(R152W +1 more)
Single nucleotide variant
(missense variant)
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
GLikely pathogenic
PBX1
(R235Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
PBX1
(R155W +1 more)
Single nucleotide variant
(missense variant)
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
GLikely pathogenic
PBX1
(Y170S +1 more)
Single nucleotide variant
(missense variant)
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
GLikely pathogenic
PBX1
(S171P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely pathogenic
PBX1
(S179fs +1 more)
Duplication
(frameshift variant)
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
GPathogenic
PBX1
(E181* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PBX1
(E184D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PBX1
(C190R +1 more)
Single nucleotide variant
(missense variant)
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
GLikely pathogenic
PBX1
(C273Y +1 more)
Single nucleotide variant
(missense variant)
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
GLikely pathogenic
PBX1
(Q196R +1 more)
Single nucleotide variant
(missense variant)
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
GLikely pathogenic
PBX1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PBX1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PBX1
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
PBX1
(N199D +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
PBX1
(R205* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
PBX1
(R205Q +1 more)
Single nucleotide variant
(missense variant)
PBX1-related disorder
+1 more
GConflicting classifications of pathogenicity
PBX1
(I206L +1 more)
Single nucleotide variant
(missense variant)
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
GUncertain significance
PBX1
(R207W +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
PBX1
(K214N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PBX1
(E217K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PBX1
(P329H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PBX1
Duplication
(intron variant)
not provided
GBenign
PBX1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PBX1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PBX1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PBX1
(S266N +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
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