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Items: 55

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129934199, LOC129934200
+2457 more
Copy number gain
See cases
GBenign
C2orf74, CCT4
+768 more
Copy number gain
See cases
GPathogenic
TPRKB
Single nucleotide variant
not provided
GBenign
TPRKB
Deletion
not provided
GBenign
TPRKB
(L200F +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPRKB
Single nucleotide variant
(synonymous variant)
Galloway-Mowat syndrome 5
+1 more
GBenign
TPRKB
(E137K +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPRKB
(S134fs +3 more)
Microsatellite
(frameshift variant)
not specified
GUncertain significance
TPRKB
Single nucleotide variant
(synonymous variant)
TPRKB-related condition
GLikely benign
TPRKB
(L133P +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TPRKB
(K132fs +3 more)
Microsatellite
(frameshift variant)
not provided
GUncertain significance
TPRKB
(Y149C +3 more)
Single nucleotide variant
(missense variant)
Galloway-Mowat syndrome 5
GPathogenic
TPRKB
(Y116N +3 more)
Single nucleotide variant
(missense variant)
Galloway-Mowat syndrome 5
GLikely pathogenic
TPRKB
Single nucleotide variant
(intron variant)
not provided
GBenign
TPRKB
(M107fs +3 more)
Deletion
(frameshift variant)
not specified
GUncertain significance
TPRKB
(L136P +3 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome
+1 more
GConflicting classifications of pathogenicity
TPRKB
(L118V +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TPRKB
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TPRKB
Single nucleotide variant
(synonymous variant)
Galloway-Mowat syndrome 5
+1 more
GBenign/Likely benign
TPRKB
(I90M +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPRKB
Deletion
(nonsense)
not provided
GUncertain significance
TPRKB
(I92V +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TPRKB
Single nucleotide variant
(synonymous variant)
TPRKB-related condition
GLikely benign
TPRKB
(V108L +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TPRKB
(F135I +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPRKB
Single nucleotide variant
(synonymous variant)
TPRKB-related condition
GLikely benign
TPRKB
(A59T +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TPRKB
Deletion
(intron variant)
not provided
GBenign
TPRKB
Duplication
(intron variant)
not provided
GBenign
TPRKB
(N70fs +3 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
TPRKB
(N64S +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPRKB
(I36V +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TPRKB
(D17Y +3 more)
Single nucleotide variant
(missense variant)
TPRKB-related condition
GUncertain significance
TPRKB
(V31I +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPRKB
Duplication
(intron variant)
not specified
GBenign
TPRKB
(T46A)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TPRKB
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
TPRKB
(R31del)
Microsatellite
(inframe_deletion +2 more)
Galloway-Mowat syndrome 5
GUncertain significance
TPRKB
(A26V)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TPRKB
(R14T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TPRKB
(H5Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TPRKB
(Q2H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TPRKB
Duplication
(5 prime UTR variant)
TPRKB-related condition
GLikely benign
ACTG2, ALMS1
+60 more
Copy number loss
not specified
GLikely pathogenic
ACTG2, ALMS1
+35 more
Copy number loss
not provided
GUncertain significance
DGUOK, EMX1
+72 more
Duplication
not provided
GUncertain significance
INO80B, LBX2
+42 more
Deletion
not provided
GPathogenic
ACTG2, ALMS1
+55 more
Deletion
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
GPathogenic
ACTG2, ACTR1B
+529 more
Copy number loss
See cases
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
ALMS1, C2orf78
+8 more
Copy number loss
not specified
GUncertain significance
AAK1, ACTG2
+127 more
Duplication
not provided
GPathogenic
ACMSD, C2orf27A
+486 more
Deletion
not provided
GLikely pathogenic
DCAF17, DCDC2C
+1214 more
Copy number gain
See cases
GPathogenic
AAK1, AAMP
+1214 more
Copy number gain
See cases
GPathogenic
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