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Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VPS13B
Single nucleotide variant
(intron variant)
Cohen syndrome
GLikely benign
VPS13B
(H328R)
Single nucleotide variant
(missense variant +1 more)
Cohen syndrome
+4 more
GConflicting classifications of pathogenicity
VPS13B
(Y413*)
Single nucleotide variant
(nonsense +2 more)
not specified
+1 more
GBenign
VPS13B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign
VPS13B
Single nucleotide variant
(intron variant)
VPS13B-related disorder
+1 more
GLikely benign
VPS13B
(R611K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
VPS13B
Single nucleotide variant
(splice acceptor variant)
Cohen syndrome
GPathogenic
VPS13B
Single nucleotide variant
(intron variant)
Cohen syndrome
GBenign/Likely benign
VPS13B
Single nucleotide variant
(synonymous variant)
VPS13B-related disorder
+4 more
GBenign/Likely benign
VPS13B
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
VPS13B
Single nucleotide variant
(intron variant)
Cohen syndrome
+2 more
GBenign
VPS13B
Single nucleotide variant
(intron variant)
Cohen syndrome
GBenign/Likely benign
VPS13B
(T1869M +1 more)
Single nucleotide variant
(missense variant)
Cohen syndrome
+4 more
GConflicting classifications of pathogenicity
VPS13B
(T1921A +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
VPS13B
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
VPS13B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
VPS13B
(V2559A)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
VPS13B
(E2560K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
VPS13B
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
VPS13B
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
VPS13B
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
VPS13B
(R3198W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
VPS13B
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
VPS13B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign
VPS13B
(G3407R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
VPS13B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
VPS13B
Single nucleotide variant
(intron variant)
Cohen syndrome
GBenign
VPS13B
(A3691T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
VPS13B
(R3732Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
VPS13B
Single nucleotide variant
(intron variant)
Cohen syndrome
+1 more
GBenign
VPS13B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
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