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Items: 1 to 100 of 801

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADGRB3, ADGRB3-DT
+310 more
Copy number loss
See cases
GPathogenic
LOC129996876, LOC129996877
+1449 more
Copy number gain
See cases
GPathogenic
AKIRIN2, ANKRD6
+299 more
Copy number loss
See cases
GPathogenic
BCKDHB, ELOVL4
+27 more
Copy number loss
See cases
GUncertain significance
BCKDHB
Single nucleotide variant
not provided
GBenign
BCKDHB
Single nucleotide variant
not provided
GBenign
BCKDHB
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
BCKDHB
Deletion
(splice donor variant)
Maple syrup urine disease
GPathogenic
BCKDHB
Single nucleotide variant
(5 prime UTR variant)
Maple syrup urine disease
GUncertain significance
BCKDHB
(M1fs)
Deletion
(frameshift variant +3 more)
Maple syrup urine disease
GLikely pathogenic
BCKDHB
Single nucleotide variant
(5 prime UTR variant +1 more)
Maple syrup urine disease
GUncertain significance
BCKDHB
(M1V)
Single nucleotide variant
(missense variant +3 more)
Maple syrup urine disease
GPathogenic/Likely pathogenic
BCKDHB
(M1L)
Single nucleotide variant
(missense variant +3 more)
Maple syrup urine disease
+1 more
GPathogenic/Likely pathogenic
BCKDHB
Duplication
(inframe_insertion +3 more)
Maple syrup urine disease
GUncertain significance
BCKDHB
(M1T)
Single nucleotide variant
(missense variant +3 more)
Maple syrup urine disease
GPathogenic/Likely pathogenic
BCKDHB
(M1I)
Single nucleotide variant
(missense variant +3 more)
Maple syrup urine disease
GPathogenic
BCKDHB
(A2V)
Single nucleotide variant
(missense variant +2 more)
Maple syrup urine disease
GUncertain significance
BCKDHB
Single nucleotide variant
(synonymous variant +2 more)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(synonymous variant +2 more)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(synonymous variant +2 more)
Maple syrup urine disease
GLikely benign
BCKDHB
(V4L)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
BCKDHB
(V4I)
Single nucleotide variant
(missense variant +2 more)
Maple syrup urine disease
GUncertain significance
BCKDHB
Single nucleotide variant
(synonymous variant +2 more)
Maple syrup urine disease
GLikely benign
BCKDHB
(A6fs)
Duplication
(frameshift variant +3 more)
Maple syrup urine disease
GLikely pathogenic
BCKDHB
(A7fs)
Deletion
(frameshift variant +2 more)
Maple syrup urine disease type 1A
+1 more
GLikely pathogenic
BCKDHB
Single nucleotide variant
(synonymous variant +2 more)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(synonymous variant +2 more)
Maple syrup urine disease
GLikely benign
BCKDHB
(A6V)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GLikely benign
BCKDHB
Single nucleotide variant
(synonymous variant +2 more)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(synonymous variant +2 more)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(synonymous variant +2 more)
Maple syrup urine disease
GLikely benign
BCKDHB
(A7T)
Single nucleotide variant
(missense variant +2 more)
Maple syrup urine disease
GUncertain significance
BCKDHB
(A8fs)
Duplication
(frameshift variant +2 more)
Maple syrup urine disease
GPathogenic
BCKDHB
Single nucleotide variant
(synonymous variant +3 more)
Maple syrup urine disease
GLikely benign
BCKDHB
(A8G)
Single nucleotide variant
(missense variant +2 more)
Maple syrup urine disease
GUncertain significance
BCKDHB
(R13fs)
Duplication
(frameshift variant +2 more)
Maple syrup urine disease
GPathogenic
BCKDHB
Single nucleotide variant
(synonymous variant +2 more)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(synonymous variant +2 more)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(synonymous variant +2 more)
Maple syrup urine disease
GLikely benign
BCKDHB
(W10fs)
Microsatellite
(frameshift variant +2 more)
Maple syrup urine disease
GPathogenic
BCKDHB
(G9S)
Single nucleotide variant
(missense variant +2 more)
Maple syrup urine disease
GLikely benign
BCKDHB
(G9A)
Single nucleotide variant
(missense variant +2 more)
Maple syrup urine disease
GUncertain significance
BCKDHB
Single nucleotide variant
(synonymous variant +2 more)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(synonymous variant +3 more)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(synonymous variant +2 more)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(synonymous variant +2 more)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(synonymous variant +2 more)
Maple syrup urine disease
GLikely benign
BCKDHB
(L12fs)
Deletion
(frameshift variant +2 more)
Maple syrup urine disease type 1A
+2 more
GConflicting classifications of pathogenicity
BCKDHB
Single nucleotide variant
(synonymous variant +2 more)
Maple syrup urine disease type 1B
GUncertain significance
BCKDHB
Single nucleotide variant
(synonymous variant +2 more)
Maple syrup urine disease
GLikely benign
BCKDHB
(R13G)
Single nucleotide variant
(missense variant +2 more)
Maple syrup urine disease
GUncertain significance
BCKDHB
Single nucleotide variant
(synonymous variant +3 more)
Maple syrup urine disease
GLikely benign
BCKDHB
(G18fs)
Duplication
(frameshift variant +3 more)
Maple syrup urine disease type 1A
GLikely pathogenic
BCKDHB
Single nucleotide variant
(synonymous variant +2 more)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(synonymous variant +2 more)
Maple syrup urine disease
GLikely benign
BCKDHB
(A16E)
Single nucleotide variant
(missense variant +2 more)
Maple syrup urine disease
GUncertain significance
BCKDHB
Single nucleotide variant
(synonymous variant +3 more)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(synonymous variant +2 more)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(synonymous variant +2 more)
Maple syrup urine disease
GLikely benign
BCKDHB
(H22fs)
Duplication
(non-coding transcript variant +2 more)
Maple syrup urine disease type 1A
+1 more
GPathogenic/Likely pathogenic
BCKDHB
Single nucleotide variant
(synonymous variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
BCKDHB
Single nucleotide variant
(synonymous variant +2 more)
Maple syrup urine disease
+1 more
GConflicting classifications of pathogenicity
BCKDHB
(A19V)
Single nucleotide variant
(missense variant +2 more)
Maple syrup urine disease
GUncertain significance
BCKDHB
(A19fs)
Deletion
(frameshift variant +2 more)
Maple syrup urine disease
GLikely pathogenic
BCKDHB
Single nucleotide variant
(synonymous variant +2 more)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(synonymous variant +2 more)
not specified
+2 more
GBenign/Likely benign
BCKDHB
(W23*)
Single nucleotide variant
(nonsense +3 more)
Maple syrup urine disease
GPathogenic
BCKDHB
Insertion
(nonsense +2 more)
Maple syrup urine disease
GPathogenic
BCKDHB
Single nucleotide variant
(synonymous variant +2 more)
Maple syrup urine disease
GLikely benign
BCKDHB
(L26fs)
Deletion
(frameshift variant +3 more)
Maple syrup urine disease
GPathogenic
BCKDHB
(L26P)
Single nucleotide variant
(missense variant +2 more)
Maple syrup urine disease
GUncertain significance
BCKDHB
(P27S)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
BCKDHB
(P27fs)
Deletion
(frameshift variant +2 more)
Maple syrup urine disease
GPathogenic/Likely pathogenic
BCKDHB
(F35fs)
Microsatellite
(frameshift variant +2 more)
Maple syrup urine disease
+2 more
GPathogenic/Likely pathogenic
BCKDHB
(A32fs)
Microsatellite
(frameshift variant +2 more)
Maple syrup urine disease
+3 more
GPathogenic
BCKDHB
Single nucleotide variant
(synonymous variant +3 more)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(synonymous variant +3 more)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(synonymous variant +2 more)
Maple syrup urine disease
GLikely benign
BCKDHB
(A29V)
Single nucleotide variant
(missense variant +2 more)
not specified
+1 more
GConflicting classifications of pathogenicity
BCKDHB
Single nucleotide variant
(synonymous variant +2 more)
Maple syrup urine disease
GLikely benign
BCKDHB
(L31P)
Single nucleotide variant
(missense variant +2 more)
Maple syrup urine disease
GUncertain significance
BCKDHB
(A32fs)
Deletion
(frameshift variant +2 more)
Maple syrup urine disease
GPathogenic/Likely pathogenic
BCKDHB
Single nucleotide variant
(synonymous variant +3 more)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(synonymous variant +2 more)
Maple syrup urine disease
GLikely benign
BCKDHB
(R33fs)
Deletion
(frameshift variant +2 more)
Maple syrup urine disease
GLikely pathogenic
BCKDHB
(G34fs)
Deletion
(frameshift variant +2 more)
Maple syrup urine disease type 1A
+1 more
GPathogenic/Likely pathogenic
BCKDHB
(R33Q)
Single nucleotide variant
(missense variant +2 more)
Maple syrup urine disease
GUncertain significance
BCKDHB
Single nucleotide variant
(synonymous variant +2 more)
Maple syrup urine disease
GLikely benign
BCKDHB
(G34S)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
BCKDHB
Single nucleotide variant
(synonymous variant +2 more)
Maple syrup urine disease
GLikely benign
BCKDHB
(L36fs)
Duplication
(frameshift variant +2 more)
Maple syrup urine disease
GPathogenic
BCKDHB
Single nucleotide variant
(synonymous variant +2 more)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(synonymous variant +2 more)
Maple syrup urine disease
GLikely benign
BCKDHB
(A39T)
Single nucleotide variant
(missense variant +2 more)
Maple syrup urine disease
GUncertain significance
BCKDHB
Single nucleotide variant
(synonymous variant +2 more)
Maple syrup urine disease
GLikely benign
BCKDHB
(A40V)
Single nucleotide variant
(missense variant +2 more)
Maple syrup urine disease
GUncertain significance
BCKDHB
Single nucleotide variant
(synonymous variant +2 more)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(synonymous variant +2 more)
Maple syrup urine disease
GLikely benign
BCKDHB
(T41I)
Single nucleotide variant
(missense variant +2 more)
Maple syrup urine disease
+1 more
GBenign
BCKDHB
Single nucleotide variant
(synonymous variant +3 more)
Maple syrup urine disease
GLikely benign
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