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Items: 56

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129933242, LOC129933243
+1631 more
Copy number gain
See cases
GPathogenic
ABCG5, ABCG8
+1400 more
Copy number gain
See cases
GPathogenic
LOC129934199, LOC129934200
+2457 more
Copy number gain
See cases
GBenign
ABCG5, ABCG8
+443 more
Copy number gain
See cases
GPathogenic
OXER1, PKDCC
+53 more
Copy number gain
See cases
GPathogenic
HAAO
(G286V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HAAO
(S247T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HAAO
(G235R)
Single nucleotide variant
(missense variant)
HAAO-related condition
GBenign
HAAO
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
HAAO
(E220K)
Single nucleotide variant
(missense variant)
HAAO-related condition
GUncertain significance
HAAO
(Y214C)
Single nucleotide variant
(missense variant)
HAAO-related condition
GBenign
HAAO
Single nucleotide variant
(intron variant)
Vertebral, cardiac, renal, and limb defects syndrome 1
GBenign
HAAO
Single nucleotide variant
(synonymous variant)
HAAO-related condition
GLikely benign
HAAO
(S189N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HAAO
(W186*)
Single nucleotide variant
(nonsense)
Vertebral, cardiac, renal, and limb defects syndrome 1
+1 more
GPathogenic
HAAO
(R175Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HAAO
(R175P)
Single nucleotide variant
(missense variant)
Vertebral, cardiac, renal, and limb defects syndrome 1
GUncertain significance
HAAO
(D162*)
Duplication
(nonsense)
Vertebral, cardiac, renal, and limb defects syndrome 1
+1 more
GPathogenic
HAAO
Single nucleotide variant
(intron variant)
Vertebral, cardiac, renal, and limb defects syndrome 1
GBenign
HAAO
(I144T)
Single nucleotide variant
(missense variant)
Vertebral, cardiac, renal, and limb defects syndrome 1
GUncertain significance
HAAO
(G138S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HAAO
(D136N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HAAO
(F128S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HAAO
(R108Q)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
HAAO
(G101W)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
HAAO
(V100M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
HAAO
(L84P)
Single nucleotide variant
(missense variant)
Vertebral, cardiac, renal, and limb defects syndrome 1
GLikely pathogenic
HAAO
Single nucleotide variant
(splice donor variant)
Vertebral, cardiac, renal, and limb defects syndrome 1
GLikely pathogenic
HAAO
(V76L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HAAO
(R73W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HAAO
(L67V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HAAO
(M62I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HAAO
Single nucleotide variant
(synonymous variant)
HAAO-related condition
GBenign
HAAO
(H47Q)
Single nucleotide variant
(missense variant)
Congenital NAD deficiency disorder
+1 more
GPathogenic
HAAO
(R43K)
Single nucleotide variant
(missense variant)
Vertebral, cardiac, renal, and limb defects syndrome 1
+1 more
GConflicting classifications of pathogenicity
HAAO
(T42S)
Single nucleotide variant
(missense variant)
HAAO-related condition
GLikely benign
HAAO
(T42S)
Single nucleotide variant
(missense variant)
Vertebral, cardiac, renal, and limb defects syndrome 1
GBenign
HAAO
(P40S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HAAO
Single nucleotide variant
(synonymous variant)
HAAO-related condition
GBenign
HAAO
(I37V)
Single nucleotide variant
(missense variant)
Vertebral, cardiac, renal, and limb defects syndrome 1
GBenign
HAAO
Single nucleotide variant
(intron variant)
Vertebral, cardiac, renal, and limb defects syndrome 1
GBenign
HAAO, LOC129933588
(R15fs)
Deletion
(frameshift variant)
Congenital NAD deficiency disorder
+1 more
GPathogenic
HAAO, LOC129933588
(R8fs)
Deletion
(frameshift variant)
Vertebral, cardiac, renal, and limb defects syndrome 1
GLikely pathogenic
ABCG5, ABCG8
+52 more
Duplication
Hereditary nonpolyposis colorectal neoplasms
GUncertain significance
ACTG2, ACTR1B
+529 more
Copy number loss
See cases
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
COX7A2L, EML4
+9 more
Copy number loss
not specified
GUncertain significance
OTOF, OXER1
+131 more
Copy number gain
See cases
GPathogenic
COX7A2L, CRIM1
+131 more
Copy number gain
not provided
GLikely pathogenic
ABCG5, ABCG8
+100 more
Copy number gain
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
PIGF, PKDCC
+52 more
Inversion
Hereditary nonpolyposis colorectal neoplasms
GPathogenic
ABCG5, ABCG8
+139 more
Copy number gain
See cases
GPathogenic
ALK, ARHGEF33
+70 more
Copy number gain
See cases
GPathogenic
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