U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 52

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VPS13D
(N165S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13D
(I205T)
Single nucleotide variant
(missense variant)
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
+2 more
GUncertain significance
VPS13D
(I265M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
VPS13D
(R336C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13D
(T338A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13D
(F357L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13D
(E379K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13D
(K513R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
VPS13D
(R558G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13D
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
VPS13D
(P617L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13D
(R710W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13D
(S818L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
VPS13D
(S952A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13D
(S952L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13D
(D1054A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
VPS13D
(Q1106fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
VPS13D
(P1131L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13D
(G1215D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13D
(V1230I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
VPS13D
(N1246D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13D
(Q1604P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
VPS13D
(S1625A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13D
(I1773L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
VPS13D
(R1808Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13D
(R1954W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
VPS13D
(S1968N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13D
(R2021W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13D
(T2136A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13D
(V2156I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13D
(K2243T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13D
(I2420V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13D
(R2502Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13D
(R2506H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13D
(A2557V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13D
(D2562N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13D
(A2695S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13D
(R2733H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13D
(T2815N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13D
(G3059R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13D
(R3072Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13D
(P3258S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13D
(R3365Q +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
+1 more
GUncertain significance
VPS13D
(L3631V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13D
(T3830A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13D
(A3840V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13D
(L3872F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13D
(D4044V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13D
(N4054S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VPS13D
(I4140V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
VPS13D
(V4309L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
VPS13D
(A4329P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
Format
Items per page
Sort by
Choose Destination