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Items: 1 to 100 of 164

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABLIM3, ACSL6
+1672 more
Copy number loss
See cases
GPathogenic
LOC129994992, LOC129994993
+1157 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACSL6
+1218 more
Copy number gain
See cases
GPathogenic
ACSL6, ACSL6-AS1
+263 more
Copy number loss
See cases
GPathogenic
AFF4, AFF4-DT
+147 more
Copy number loss
See cases
GPathogenic
BRD8, C5orf15
+230 more
Copy number loss
See cases
GPathogenic
C5orf15, C5orf24
+100 more
Copy number loss
See cases
GPathogenic
SAR1B
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
SAR1B
(D198A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAR1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAR1B
(A194S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAR1B
(M193L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAR1B
(R191H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SAR1B
(G187E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAR1B
(G187R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAR1B
(G187fs)
Duplication
(frameshift variant)
Chylomicron retention disease
GPathogenic
SAR1B
(G185V)
Single nucleotide variant
(missense variant)
Chylomicron retention disease
GPathogenic
SAR1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAR1B
(S179R)
Single nucleotide variant
(missense variant)
SAR1B-related disorder
GLikely pathogenic
SAR1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAR1B
(E174K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAR1B
(R171Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAR1B
(R171P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SAR1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAR1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAR1B
(L168M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAR1B
(E167*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
SAR1B
(K166Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAR1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAR1B
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+1 more
GUncertain significance
SAR1B
Single nucleotide variant
(intron variant)
not provided
GBenign/Likely benign
SAR1B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SAR1B
Single nucleotide variant
(intron variant)
not provided
GBenign
SAR1B
Single nucleotide variant
(intron variant)
not provided
GBenign
SAR1B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SAR1B
Deletion
(intron variant)
Chylomicron retention disease
+1 more
GBenign
SAR1B
Insertion
(intron variant)
not provided
GLikely benign
SAR1B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SAR1B
(K160T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAR1B
(G159R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAR1B
(G155A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAR1B
(M150T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAR1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAR1B
(R148Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAR1B
(R148*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
SAR1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAR1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAR1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAR1B
(P139L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAR1B
(D137N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
SAR1B
(I129M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAR1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAR1B
(I124V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAR1B
(E122*)
Single nucleotide variant
(nonsense)
Chylomicron retention disease
GPathogenic
SAR1B
Single nucleotide variant
(splice acceptor variant)
Chylomicron retention disease
GPathogenic
SAR1B
Duplication
(intron variant)
SAR1B-related disorder
GLikely benign
SAR1B
Deletion
(intron variant)
not provided
GLikely benign
SAR1B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SAR1B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SAR1B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SAR1B
(D116N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAR1B
(L115P)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
SAR1B
Duplication
(inframe_insertion)
not provided
GUncertain significance
SAR1B
(E113fs)
Deletion
(frameshift variant)
Chylomicron retention disease
+1 more
GPathogenic
SAR1B
(L108M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SAR1B
(R107S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAR1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAR1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAR1B
(D104H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAR1B
(C102S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAR1B
(N94H)
Single nucleotide variant
(missense variant)
Chylomicron retention disease
GUncertain significance
SAR1B
(I93V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAR1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAR1B
(N88S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAR1B
(W86*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
SAR1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAR1B
(R83Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAR1B
(R83*)
Single nucleotide variant
(nonsense)
Chylomicron retention disease
+1 more
GPathogenic/Likely pathogenic
SAR1B
Duplication
(intron variant)
not provided
GBenign
SAR1B
Deletion
(intron variant)
not provided
GBenign
SAR1B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SAR1B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SAR1B
Deletion
(intron variant)
not provided
GUncertain significance
SAR1B
Deletion
(intron variant)
not provided
GLikely benign
SAR1B
Deletion
(intron variant)
not provided
GLikely benign
SAR1B
Deletion
(intron variant)
not provided
GLikely benign
SAR1B
Deletion
(intron variant)
not provided
GLikely benign
SAR1B
Duplication
(intron variant)
not provided
GLikely benign
SAR1B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SAR1B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SAR1B
Deletion
(intron variant)
not provided
GLikely benign
SAR1B
Duplication
(intron variant)
not provided
GLikely benign
SAR1B
Duplication
(intron variant)
not provided
GLikely benign
SAR1B
Deletion
(intron variant)
SAR1B-related disorder
GLikely benign
SAR1B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SAR1B
Duplication
(intron variant)
not provided
GLikely benign
SAR1B
Deletion
(intron variant)
not provided
GLikely benign
SAR1B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SAR1B
Single nucleotide variant
(intron variant)
not provided
GBenign/Likely benign
SAR1B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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