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Links from MedGen

Items: 41

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LARS2, LARS2-AS1
(M417V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LARS2, LARS2-AS1
(R431W)
Single nucleotide variant
(missense variant)
Perrault syndrome 4
GUncertain significance
LARS2, LARS2-AS1
(I360T)
Single nucleotide variant
(missense variant)
Perrault syndrome 4
GLikely pathogenic
LARS2
(S641N)
Single nucleotide variant
(missense variant)
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
+3 more
GUncertain significance
LARS2
(V870F)
Single nucleotide variant
(missense variant)
Perrault syndrome 4
GUncertain significance
LARS2
(W691*)
Single nucleotide variant
(nonsense)
Perrault syndrome 4
GLikely pathogenic
LARS2
(N847S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LARS2, LARS2-AS1
(Y557C)
Single nucleotide variant
(missense variant)
Perrault syndrome 4
GPathogenic
LARS2
(A762D)
Single nucleotide variant
(missense variant)
Perrault syndrome 4
GUncertain significance
LARS2
(L14fs)
Deletion
(frameshift variant)
Perrault syndrome 4
GPathogenic
LARS2
(A595fs)
Deletion
(frameshift variant)
Perrault syndrome 4
GPathogenic
LARS2, LARS2-AS1
(T519M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LARS2
(E294K)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
LARS2
(D660V)
Single nucleotide variant
(missense variant)
Perrault syndrome 4
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
(R228H)
Single nucleotide variant
(missense variant)
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
+1 more
GLikely pathogenic
LARS2
(M757L)
Single nucleotide variant
(missense variant)
Perrault syndrome 4
GUncertain significance
LARS2
(A595D)
Single nucleotide variant
(missense variant)
Perrault syndrome 4
GUncertain significance
LARS2, LARS2-AS1
(A393D)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
LARS2, LARS2-AS1
(S372*)
Single nucleotide variant
(nonsense)
Perrault syndrome 4
GLikely pathogenic
LARS2
(R605H)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
LARS2
(N124I)
Single nucleotide variant
(missense variant)
Perrault syndrome 4
GPathogenic
LARS2
(R663W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
Perrault syndrome 4
GPathogenic
LARS2
(E868K)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
LARS2
(E874K)
Single nucleotide variant
(missense variant)
Perrault syndrome 4
+3 more
GUncertain significance
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
(E831D)
Single nucleotide variant
(missense variant)
Perrault syndrome 4
+3 more
GBenign
LARS2
(E638K)
Single nucleotide variant
(missense variant)
Perrault syndrome 4
GPathogenic
LARS2
(T300M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LARS2
(N153H)
Single nucleotide variant
(missense variant)
Perrault syndrome
+2 more
GLikely pathogenic
LARS2, LARS2-AS1
(I360fs)
Deletion
(frameshift variant)
Perrault syndrome 4
GPathogenic
LARS2
(T629M)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GPathogenic
LARS2, LARS2-AS1
(T522N)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+3 more
GPathogenic/Likely pathogenic
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