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Links from MedGen

Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LARS2
(S641N)
Single nucleotide variant
(missense variant)
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
+3 more
GUncertain significance
LARS2
(N847S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LARS2
(P712S)
Single nucleotide variant
(missense variant)
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
GLikely pathogenic
LARS2
(S315L)
Single nucleotide variant
(missense variant)
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
+2 more
GConflicting classifications of pathogenicity
LARS2
(T106I)
Single nucleotide variant
(missense variant)
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
GUncertain significance
LARS2, LARS2-AS1
(E413K)
Single nucleotide variant
(missense variant)
Perrault syndrome 4
+2 more
GUncertain significance
LARS2, LARS2-AS1
(P536L)
Single nucleotide variant
(missense variant)
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
+1 more
GLikely pathogenic
LARS2
(Q147P)
Single nucleotide variant
(missense variant)
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
+1 more
GLikely pathogenic
LARS2
(T700I)
Single nucleotide variant
(missense variant)
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
GLikely pathogenic
LARS2
(A130T)
Single nucleotide variant
(missense variant)
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
GLikely pathogenic
LARS2, LARS2-AS1
(D438G)
Single nucleotide variant
(missense variant)
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
GLikely pathogenic
LARS2
(R228H)
Single nucleotide variant
(missense variant)
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
+1 more
GLikely pathogenic
LARS2, LARS2-AS1
(A393D)
Single nucleotide variant
(missense variant)
LARS2-related disorder
+4 more
GConflicting classifications of pathogenicity
LARS2
(R605H)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
LARS2, LARS2-AS1
(A430V)
Single nucleotide variant
(missense variant)
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
GPathogenic
LARS2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
LARS2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
LARS2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
LARS2, LARS2-AS1
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
LARS2-AS1, LARS2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
LARS2, LARS2-AS1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
LARS2
(N153H)
Single nucleotide variant
(missense variant)
Perrault syndrome 4
+2 more
GPathogenic/Likely pathogenic
LARS2, LARS2-AS1
(T522N)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+3 more
GPathogenic/Likely pathogenic
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