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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VARS1
(R1219Q)
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
(R1217H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
VARS1
(Q1216*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GPathogenic
VARS1
(R1208Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
VARS1
(R1129Q)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
+1 more
GUncertain significance
VARS1
(S1085G)
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
(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
(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
(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
(M447I)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GConflicting classifications of pathogenicity
VARS1
(C444Y)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GUncertain significance
LOC126859651, VARS1
(R241W)
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
(D11A)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
+1 more
GUncertain significance
VARS1
(S7F)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
+1 more
GUncertain significance
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