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Items: 1 to 100 of 351

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AAMP, ABCA12
+1703 more
Copy number gain
See cases
GPathogenic
LOC129935343, LOC129935344
+1687 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1665 more
Copy number gain
See cases
GPathogenic
LOC129935480, LOC129935481
+1299 more
Copy number gain
See cases
GPathogenic
LOC129935841, LOC129935842
+1148 more
Copy number gain
See cases
GPathogenic
LOC129935871, LOC129935872
+986 more
Copy number gain
See cases
GPathogenic
LOC126806566, LOC126806567
+393 more
Copy number loss
See cases
GPathogenic
AGFG1, ALPG
+347 more
Copy number loss
See cases
GPathogenic
ACKR3, AGAP1
+630 more
Copy number gain
See cases
GPathogenic
ALPG, ALPI
+309 more
Copy number gain
See cases
GPathogenic
LOC129935973, LOC129935974
+576 more
Copy number gain
See cases
GPathogenic
ACKR3, AGAP1
+455 more
Copy number loss
See cases
GPathogenic
LOC129935973, LOC129935974
+455 more
Copy number loss
See cases
GPathogenic
LOC129935990, LOC129935991
+361 more
Copy number loss
See cases
GPathogenic
DGKD, DNAJB3
+16 more
Copy number gain
See cases
GUncertain significance
ACKR3, AGAP1
+359 more
Copy number loss
See cases
GPathogenic
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(intron variant)
UGT1A1-related disorder
GLikely benign
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(intron variant)
Gilbert syndrome
+5 more
GConflicting classifications of pathogenicity
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(intron variant)
irinotecan response - Toxicity
Gdrug response
UGT1A7, UGT1A8
+8 more
Single nucleotide variant
(intron variant)
UGT1A1-related disorder
GLikely benign
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(intron variant)
Lucey-Driscoll syndrome
GPathogenic
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(intron variant)
UGT1A1-related disorder
+1 more
GBenign
UGT1A, UGT1A1
+8 more
Duplication
(intron variant)
UGT1A1-related disorder
GPathogenic
UGT1A, UGT1A1
+8 more
Microsatellite
(intron variant)
not provided
GUncertain significance
UGT1A, UGT1A1
+8 more
Microsatellite
(intron variant)
Irinotecan response
+2 more
GConflicting classifications of pathogenicity; drug response
UGT1A, UGT1A1
+8 more
Microsatellite
(intron variant)
Crigler-Najjar syndrome, type II
+4 more
GConflicting classifications of pathogenicity; drug response; other
UGT1A8, UGT1A9
+8 more
Microsatellite
(intron variant)
Irinotecan response
+2 more
GBenign; drug response
UGT1A, UGT1A1
+8 more
Microsatellite
Levothyroxine response
Gother
UGT1A, UGT1A1
+8 more
Insertion
(intron variant)
UGT1A1-related disorder
+1 more
GPathogenic; other
UGT1A9, UGT1A5
+8 more
Microsatellite
(intron variant)
Irinotecan response
Gdrug response
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
UGT1A8, UGT1A9
+8 more
Insertion
(intron variant)
not provided
GUncertain significance
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
UGT1A, UGT1A1
+8 more
(M1fs)
Deletion
(frameshift variant +2 more)
Gilbert syndrome
GLikely pathogenic
UGT1A6, UGT1A7
+8 more
(G7S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(synonymous variant +1 more)
UGT1A1-related disorder
GLikely benign
UGT1A, UGT1A1
+8 more
(G8R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
UGT1A, UGT1A1
+8 more
(R9C)
Single nucleotide variant
(missense variant +1 more)
Crigler-Najjar syndrome
+2 more
GUncertain significance
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(intron variant +1 more)
not provided
GLikely benign
UGT1A3, UGT1A9
+8 more
(L15R)
Single nucleotide variant
(missense variant +1 more)
Crigler-Najjar syndrome, type II
+4 more
GLikely pathogenic
UGT1A5, UGT1A6
+8 more
Single nucleotide variant
(synonymous variant +1 more)
UGT1A1-related disorder
GLikely benign
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
UGT1A, UGT1A1
+8 more
(S25fs)
Duplication
(frameshift variant +1 more)
not provided
GPathogenic
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(synonymous variant +1 more)
not specified
+5 more
GLikely benign
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(synonymous variant +1 more)
UGT1A1-related disorder
GLikely benign
UGT1A, UGT1A1
+8 more
(A27fs)
Deletion
(intron variant +1 more)
not provided
GPathogenic/Likely pathogenic
UGT1A8, UGT1A9
+8 more
(I30T)
Single nucleotide variant
(missense variant +1 more)
UGT1A1-related disorder
+1 more
GUncertain significance
UGT1A, UGT1A1
+8 more
(L31R)
Single nucleotide variant
(missense variant +1 more)
Crigler-Najjar syndrome type 1
GUncertain significance
UGT1A1, UGT1A3
+8 more
(D36G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
UGT1A, UGT1A1
+8 more
(G37V)
Single nucleotide variant
(intron variant +1 more)
not provided
GUncertain significance
UGT1A, UGT1A1
+8 more
(G37D)
Single nucleotide variant
(missense variant +1 more)
Crigler-Najjar syndrome, type II
GUncertain significance
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
UGT1A, UGT1A1
+8 more
(W40R)
Single nucleotide variant
(intron variant +1 more)
not provided
GUncertain significance
UGT1A, UGT1A1
+8 more
(S42N)
Single nucleotide variant
(missense variant +1 more)
UGT1A1-related disorder
GUncertain significance
UGT1A5, UGT1A6
+8 more
(L44H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
UGT1A, UGT1A1
+8 more
(A46V)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GUncertain significance
UGT1A1, UGT1A
+8 more
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(synonymous variant +1 more)
Hyperbilirubinemia
+6 more
GConflicting classifications of pathogenicity
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(synonymous variant +1 more)
Hyperbilirubinemia
GUncertain significance
UGT1A10, UGT1A3
+8 more
(Q48E)
Single nucleotide variant
(missense variant +1 more)
Lucey-Driscoll syndrome
+3 more
GUncertain significance
UGT1A1, UGT1A3
+8 more
(Q49*)
Single nucleotide variant
(nonsense +1 more)
Crigler-Najjar syndrome type 1
GPathogenic
UGT1A, UGT1A1
+8 more
(L50R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
UGT1A5, UGT1A6
+8 more
Single nucleotide variant
(synonymous variant +1 more)
UGT1A1-related disorder
+1 more
GConflicting classifications of pathogenicity
UGT1A, UGT1A1
+8 more
(H55fs)
Duplication
(intron variant +1 more)
not provided
GPathogenic
UGT1A, UGT1A1
+8 more
(H55R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
UGT1A5, UGT1A6
+8 more
(E56A)
Single nucleotide variant
(missense variant +1 more)
Lucey-Driscoll syndrome
+3 more
GUncertain significance
UGT1A3, UGT1A4
+8 more
(V59F)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
UGT1A, UGT1A1
+8 more
(L60P)
Single nucleotide variant
(missense variant +1 more)
Lucey-Driscoll syndrome
GUncertain significance
UGT1A, UGT1A1
+8 more
(A61G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(synonymous variant +1 more)
Gilbert syndrome
+4 more
GConflicting classifications of pathogenicity
UGT1A, UGT1A1
+8 more
(S65L)
Single nucleotide variant
(intron variant +1 more)
not provided
GUncertain significance
UGT1A8, UGT1A9
+8 more
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
UGT1A4, UGT1A6
+8 more
Single nucleotide variant
(synonymous variant +1 more)
UGT1A1-related disorder
GLikely benign
UGT1A, UGT1A1
+8 more
(Y67F)
Single nucleotide variant
(missense variant +1 more)
Gilbert syndrome
GUncertain significance
UGT1A, UGT1A1
+8 more
(D70E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
UGT1A, UGT1A1
+8 more
(G71R)
Single nucleotide variant
(missense variant +1 more)
Crigler-Najjar syndrome, type II
+4 more
GConflicting classifications of pathogenicity; drug response
UGT1A, UGT1A1
+8 more
(Y74*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic
UGT1A10, UGT1A3
+8 more
(P80fs)
Insertion
(frameshift variant +1 more)
Hyperbilirubinemia
+2 more
GPathogenic
UGT1A, UGT1A1
+8 more
(P82S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
UGT1A, UGT1A1
+8 more
(P82A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
UGT1A5, UGT1A
+8 more
(R85K)
Single nucleotide variant
(missense variant +1 more)
UGT1A1-related disorder
GUncertain significance
UGT1A, UGT1A1
+8 more
(E90fs)
Microsatellite
(frameshift variant +1 more)
not provided
GPathogenic
UGT1A4, UGT1A5
+8 more
Single nucleotide variant
(synonymous variant +1 more)
UGT1A1-related disorder
+1 more
GLikely benign
UGT1A5, UGT1A6
+8 more
(G96R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
UGT1A4, UGT1A1
+8 more
(G96E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
UGT1A9, UGT1A1
+8 more
Single nucleotide variant
(synonymous variant +1 more)
Crigler-Najjar syndrome
+2 more
GUncertain significance
UGT1A1, UGT1A10
+8 more
Single nucleotide variant
(synonymous variant +1 more)
UGT1A1-related disorder
+4 more
GConflicting classifications of pathogenicity
UGT1A, UGT1A1
+8 more
(F100fs)
Deletion
(frameshift variant +1 more)
not provided
GLikely pathogenic
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(synonymous variant +1 more)
Crigler-Najjar syndrome
+3 more
GUncertain significance
UGT1A, UGT1A1
+8 more
(R108C)
Single nucleotide variant
(missense variant +1 more)
Hyperbilirubinemia
+4 more
GUncertain significance
UGT1A, UGT1A1
+8 more
(V109A)
Single nucleotide variant
(missense variant +1 more)
Crigler-Najjar syndrome
+4 more
GConflicting classifications of pathogenicity
UGT1A3, UGT1A6
+8 more
(D119fs)
Duplication
(frameshift variant +1 more)
not provided
+4 more
GPathogenic/Likely pathogenic
UGT1A, UGT1A1
+8 more
(K118N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
UGT1A, UGT1A1
+8 more
(D119N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
UGT1A, UGT1A1
+8 more
(S120P)
Single nucleotide variant
(missense variant +1 more)
Crigler-Najjar syndrome, type II
+1 more
GUncertain significance
UGT1A10, UGT1A7
+8 more
(A121P)
Single nucleotide variant
(missense variant +1 more)
Crigler-Najjar syndrome
+2 more
GUncertain significance
UGT1A, UGT1A1
+8 more
(C127fs)
Insertion
(intron variant +1 more)
Crigler-Najjar syndrome type 1
GPathogenic
UGT1A, UGT1A1
+8 more
(H129R)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
UGT1A, UGT1A1
+8 more
(H129Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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