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Links from MedGen

Items: 56

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VARS1
(S864*)
Indel
(nonsense)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GLikely pathogenic
VARS1
(E1096D)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GUncertain significance
VARS1
(S1061L)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GLikely pathogenic
VARS1
(P51S)
Indel
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GLikely benign
VARS1
(K1230E)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GUncertain significance
VARS1
(A92G)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GUncertain significance
VARS1
(N941fs)
Deletion
(frameshift variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GLikely pathogenic
VARS1
(R752W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
VARS1
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GUncertain significance
VARS1
(Q1039*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GLikely pathogenic
LOC126859651, VARS1
(R241W)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GUncertain significance
VARS1
(R1219W)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GUncertain significance
VARS1
(Q1216*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GPathogenic
VARS1
(R1129Q)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GUncertain significance
VARS1
(D11A)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GUncertain significance
VARS1
(A912E)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GUncertain significance
VARS1
(V547L)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GUncertain significance
VARS1
(R473C)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GUncertain significance
VARS1
(C444Y)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GUncertain significance
LOC126859651, VARS1
(L204P)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GUncertain significance
VARS1
(R1219Q)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GUncertain significance
VARS1
(R1217H)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
+1 more
GConflicting classifications of pathogenicity
VARS1
(R1208Q)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GUncertain significance
VARS1
(S1085G)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GUncertain significance
VARS1
(R758C)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GUncertain significance
VARS1
(P744T)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GUncertain significance
VARS1
(S7F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
VARS1
(P625L)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GUncertain significance
VARS1
(M583L)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GUncertain significance
VARS1
(G696R)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GUncertain significance
VARS1
(P1232Q)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GUncertain significance
VARS1
(R942W)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GLikely pathogenic
VARS1
(T1089I)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GLikely pathogenic
VARS1
(E61*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GPathogenic
VARS1
(T1115R)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GLikely pathogenic
VARS1
(M338I)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GUncertain significance
VARS1
(R1208*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GPathogenic/Likely pathogenic
VARS1
(M447I)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GUncertain significance
VARS1
(L16R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VARS1
(M1064I)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GPathogenic
VARS1
Single nucleotide variant
(splice acceptor variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GPathogenic
VARS1
(R404W)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
+1 more
GConflicting classifications of pathogenicity
VARS1
(R942Q)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
VARS1
(L78fs)
Duplication
(frameshift variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GPathogenic
VARS1
(R442Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VARS1
(Q400P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VARS1
(G822S)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GPathogenic
VARS1
(L434V)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GPathogenic
VARS1
(R1119C)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GLikely pathogenic
VARS1
(R947H)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GLikely pathogenic
VARS1
(F1072L)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
+7 more
GConflicting classifications of pathogenicity
VARS1, VARS2
(P661T)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GLikely pathogenic
VARS1
(R442*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GPathogenic
VARS1
(A692P)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GPathogenic
VARS1
(R1058Q)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
+1 more
GLikely pathogenic
VARS1
(L885F)
Single nucleotide variant
(missense variant)
Abnormal brain morphology
GLikely pathogenic
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