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Links from MedGen

Items: 56

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VARS2
(C141Y +2 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 20
GUncertain significance
VARS2
(M141fs +1 more)
Deletion
(5 prime UTR variant +1 more)
Combined oxidative phosphorylation defect type 20
GPathogenic
VARS2
Single nucleotide variant
(splice acceptor variant)
Combined oxidative phosphorylation defect type 20
GLikely pathogenic
VARS2
(P1061L +2 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 20
GUncertain significance
VARS2
(W309* +2 more)
Single nucleotide variant
(nonsense)
Combined oxidative phosphorylation defect type 20
GConflicting classifications of pathogenicity
LOC126859646, VARS2
(L613F +2 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 20
GUncertain significance
VARS2
(R216* +2 more)
Single nucleotide variant
(nonsense)
Combined oxidative phosphorylation defect type 20
GLikely pathogenic
VARS2
(R168C +2 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 20
+1 more
GUncertain significance
VARS2
(W388* +2 more)
Single nucleotide variant
(nonsense)
Combined oxidative phosphorylation defect type 20
GLikely pathogenic
VARS2
(R168H +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
VARS2
(H402R +2 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 20
GUncertain significance
VARS2
(E758* +2 more)
Single nucleotide variant
(nonsense)
Combined oxidative phosphorylation defect type 20
GLikely pathogenic
VARS2
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 20
GUncertain significance
VARS2
(P25fs)
Deletion
(frameshift variant +2 more)
Combined oxidative phosphorylation defect type 20
GUncertain significance
VARS2
(E723D +2 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 20
+1 more
GConflicting classifications of pathogenicity
VARS2
(C106R +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
VARS2
(L891R +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
VARS2
(R755H +2 more)
Single nucleotide variant
(missense variant)
VARS2-related disorder
+1 more
GConflicting classifications of pathogenicity
VARS2
(P875L +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
VARS2
(Q48E +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
LOC126859646, VARS2
Single nucleotide variant
(splice acceptor variant)
Combined oxidative phosphorylation defect type 20
GPathogenic
LOC126859646, VARS2
(R512W +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
VARS2
(R71W +2 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 20
+1 more
GUncertain significance
VARS2
(E122G +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Combined oxidative phosphorylation defect type 20
+1 more
GUncertain significance
VARS2
(R862Q +2 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 20
+1 more
GUncertain significance
VARS2
(L821fs +2 more)
Duplication
(frameshift variant)
Combined oxidative phosphorylation defect type 20
GLikely pathogenic
VARS2
(R834H +2 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 20
GUncertain significance
VARS2
(Y780H +2 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 20
GPathogenic
VARS2
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
VARS2
(D384N +2 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 20
GPathogenic
LOC126859646, VARS2
(A747T +2 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 20
GPathogenic
VARS2
(R497H +2 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 20
GUncertain significance
VARS2
(E516* +2 more)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
VARS2
(E406V +2 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 20
GUncertain significance
VARS2
(A424V +2 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 20
+2 more
GConflicting classifications of pathogenicity
LOC126859646, VARS2
(L472fs +2 more)
Deletion
(frameshift variant)
Combined oxidative phosphorylation defect type 20
GPathogenic/Likely pathogenic
VARS2
Microsatellite
(intron variant)
not provided
+1 more
GBenign
VARS2
(H35R +1 more)
Single nucleotide variant
(missense variant +1 more)
Combined oxidative phosphorylation defect type 20
+1 more
GUncertain significance
VARS2
(Q1007R +2 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 20
+1 more
GUncertain significance
VARS2
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 20
GUncertain significance
VARS2
(A390T +2 more)
Single nucleotide variant
(missense variant)
VARS2-related disorder
+4 more
GConflicting classifications of pathogenicity
VARS2
(G488del +2 more)
Deletion
(inframe_deletion)
Combined oxidative phosphorylation defect type 20
GLikely pathogenic
VARS2
(R467P +2 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 20
GLikely pathogenic
VARS2
(R171W +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
VARS2
(R851C +2 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 20
+1 more
GConflicting classifications of pathogenicity
VARS2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 20
+2 more
GBenign
VARS2
(R917Q +2 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 20
+2 more
GBenign
LOC126859646, VARS2
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 20
+2 more
GBenign
LOC126859646, VARS2
(V680L +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
VARS2
(W449R +2 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 20
+2 more
GBenign
VARS2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
VARS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign
LOC126859646, VARS2
(T617M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VARS2
(T367I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic
LOC126859646, VARS2
(A626D +2 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 20
GPathogenic
VARS2
(A379T +2 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 20
GPathogenic
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