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Items: 1 to 100 of 150

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VPS13B
(K19R)
Single nucleotide variant
(missense variant +1 more)
VPS13B-related condition
+3 more
GUncertain significance
VPS13B
(S175C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
VPS13B
Duplication
(intron variant)
Cohen syndrome
+1 more
GConflicting classifications of pathogenicity
VPS13B
(H328R)
Single nucleotide variant
(missense variant +1 more)
VPS13B-related condition
+4 more
GConflicting classifications of pathogenicity
VPS13B
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
VPS13B
(Y359C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
VPS13B
(Q416H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
VPS13B
Single nucleotide variant
(synonymous variant)
VPS13B-related condition
+2 more
GConflicting classifications of pathogenicity
VPS13B
Single nucleotide variant
(synonymous variant)
VPS13B-related condition
+4 more
GConflicting classifications of pathogenicity
VPS13B
(T488M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
VPS13B
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
VPS13B
(R510C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
VPS13B
(R510H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
VPS13B
(H520R)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
VPS13B
(T523A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
VPS13B
(G567E)
Single nucleotide variant
(missense variant)
VPS13B-related condition
+4 more
GUncertain significance
VPS13B
(A590T)
Single nucleotide variant
(missense variant)
VPS13B-related condition
+4 more
GConflicting classifications of pathogenicity
VPS13B
Single nucleotide variant
(synonymous variant)
VPS13B-related condition
+3 more
GConflicting classifications of pathogenicity
VPS13B
(R611K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
VPS13B
(T622A)
Single nucleotide variant
(missense variant)
VPS13B-related condition
+4 more
GUncertain significance
VPS13B
(R639*)
Single nucleotide variant
(nonsense)
Cohen syndrome
+1 more
GPathogenic/Likely pathogenic
VPS13B
(D661N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
VPS13B
(R686W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
VPS13B
(R692Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
VPS13B
Single nucleotide variant
(synonymous variant)
VPS13B-related condition
+3 more
GConflicting classifications of pathogenicity
VPS13B
(V759L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
VPS13B
(S824A)
Single nucleotide variant
(missense variant)
VPS13B-related condition
+3 more
GConflicting classifications of pathogenicity
VPS13B
(S824F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
VPS13B
(A825T)
Single nucleotide variant
(missense variant)
VPS13B-related condition
+4 more
GUncertain significance
VPS13B
(A829T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
VPS13B
(S837C)
Single nucleotide variant
(missense variant)
Cohen syndrome
+2 more
GUncertain significance
VPS13B
(E857Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13B
(S864*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
VPS13B
(K881N)
Single nucleotide variant
(missense variant)
VPS13B-related condition
+3 more
GConflicting classifications of pathogenicity
VPS13B
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
VPS13B
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
VPS13B
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
VPS13B
(I949M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
VPS13B
(G951V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
VPS13B
(Q969R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
VPS13B
(E1050K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13B
(T1068I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
VPS13B
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
VPS13B
(I1121M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
VPS13B
(K1129R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
VPS13B
(E1136K)
Single nucleotide variant
(missense variant)
Cohen syndrome
+1 more
GUncertain significance
VPS13B
Single nucleotide variant
(synonymous variant)
VPS13B-related condition
+4 more
GConflicting classifications of pathogenicity
VPS13B
(V1187I)
Single nucleotide variant
(missense variant)
Cohen syndrome
+1 more
GUncertain significance
VPS13B
(T1199A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13B
(R1200*)
Single nucleotide variant
(nonsense)
VPS13B-related condition
+2 more
GPathogenic/Likely pathogenic
VPS13B
(D1210Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
VPS13B
(S1219C)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
VPS13B
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
VPS13B
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
VPS13B
(T1251S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
VPS13B
(T1251A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
VPS13B
(T1271S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
VPS13B
(T1289S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
VPS13B
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+2 more
GBenign/Likely benign
VPS13B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
VPS13B
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
VPS13B
(H1421R)
Single nucleotide variant
(missense variant)
VPS13B-related condition
+3 more
GUncertain significance
VPS13B
(V1524F +1 more)
Single nucleotide variant
(missense variant)
VPS13B-related condition
+2 more
GUncertain significance
VPS13B
(P1541L +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
VPS13B
(N1586S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
VPS13B
Single nucleotide variant
(intron variant)
VPS13B-related condition
+3 more
GConflicting classifications of pathogenicity
VPS13B
(R1652Q)
Single nucleotide variant
(missense variant)
VPS13B-related condition
+2 more
GUncertain significance
VPS13B
(S1669fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
VPS13B
(R1762H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
VPS13B
(R1799H +1 more)
Single nucleotide variant
(missense variant)
VPS13B-related condition
+3 more
GUncertain significance
VPS13B
(S1834L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
VPS13B
(T1869M +1 more)
Single nucleotide variant
(missense variant)
VPS13B-related condition
+4 more
GConflicting classifications of pathogenicity
VPS13B
(R1914Q +1 more)
Single nucleotide variant
(missense variant)
VPS13B-related condition
+3 more
GConflicting classifications of pathogenicity
VPS13B
(T1921A +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
VPS13B
(S1964P +1 more)
Single nucleotide variant
(missense variant)
VPS13B-related condition
+3 more
GConflicting classifications of pathogenicity
VPS13B
(I1969V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GBenign/Likely benign
VPS13B
(Q2007H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13B
(G2089V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13B
(N2139S +1 more)
Single nucleotide variant
(missense variant)
VPS13B-related condition
+4 more
GConflicting classifications of pathogenicity
VPS13B
Duplication
(intron variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
VPS13B
(I2163V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13B
(I2211L)
Single nucleotide variant
(missense variant)
VPS13B-related condition
+3 more
GUncertain significance
VPS13B
Single nucleotide variant
(synonymous variant)
Cohen syndrome
+1 more
GConflicting classifications of pathogenicity
VPS13B
(V2296A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign
VPS13B
(K2363Q +1 more)
Single nucleotide variant
(missense variant)
VPS13B-related condition
+2 more
GConflicting classifications of pathogenicity
VPS13B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
VPS13B
Single nucleotide variant
(synonymous variant)
VPS13B-related condition
+2 more
GConflicting classifications of pathogenicity
VPS13B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
VPS13B
(V2456I)
Single nucleotide variant
(missense variant)
VPS13B-related condition
+4 more
GConflicting classifications of pathogenicity
VPS13B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
VPS13B
(V2559A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
VPS13B
(E2560K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
VPS13B
(D2570N)
Single nucleotide variant
(missense variant)
VPS13B-related condition
+4 more
GConflicting classifications of pathogenicity
VPS13B
(S2571F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
VPS13B
Single nucleotide variant
(intron variant)
VPS13B-related condition
+2 more
GConflicting classifications of pathogenicity
VPS13B
(E2601K +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
VPS13B
(R2641H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
VPS13B
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
VPS13B
(Y2724C +1 more)
Single nucleotide variant
(missense variant)
VPS13B-related condition
+3 more
GBenign/Likely benign
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