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Links from MedGen

Items: 53

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
YARS2
(R414L)
Single nucleotide variant
(missense variant)
Myopathy, lactic acidosis, and sideroblastic anemia 2
GUncertain significance
YARS2
(S33*)
Single nucleotide variant
(nonsense)
Myopathy, lactic acidosis, and sideroblastic anemia 2
+1 more
GPathogenic
YARS2
(A3T)
Single nucleotide variant
(missense variant)
Myopathy, lactic acidosis, and sideroblastic anemia 2
GUncertain significance
YARS2
(Q476R)
Single nucleotide variant
(missense variant)
Myopathy, lactic acidosis, and sideroblastic anemia 2
GUncertain significance
YARS2
Single nucleotide variant
Myopathy, lactic acidosis, and sideroblastic anemia 2
GUncertain significance
YARS2
Single nucleotide variant
Myopathy, lactic acidosis, and sideroblastic anemia 2
GUncertain significance
YARS2
Single nucleotide variant
(3 prime UTR variant)
Myopathy, lactic acidosis, and sideroblastic anemia 2
GUncertain significance
YARS2
Single nucleotide variant
(3 prime UTR variant)
Myopathy, lactic acidosis, and sideroblastic anemia 2
GLikely benign
YARS2
Single nucleotide variant
(3 prime UTR variant)
Myopathy, lactic acidosis, and sideroblastic anemia 2
GUncertain significance
YARS2
Single nucleotide variant
(3 prime UTR variant)
Myopathy, lactic acidosis, and sideroblastic anemia 2
GUncertain significance
YARS2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
YARS2
(E212*)
Single nucleotide variant
(nonsense)
Myopathy, lactic acidosis, and sideroblastic anemia 2
+1 more
GPathogenic/Likely pathogenic
YARS2
Single nucleotide variant
(synonymous variant)
Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis
+1 more
GUncertain significance
YARS2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
YARS2
Single nucleotide variant
(synonymous variant)
Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis
+2 more
GConflicting classifications of pathogenicity
YARS2
(I109M)
Single nucleotide variant
(missense variant)
Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis
+1 more
GUncertain significance
YARS2
Single nucleotide variant
(synonymous variant)
Myopathy, lactic acidosis, and sideroblastic anemia 2
+3 more
GConflicting classifications of pathogenicity
YARS2
(K179Q)
Single nucleotide variant
(missense variant)
Myopathy, lactic acidosis, and sideroblastic anemia 2
+2 more
GConflicting classifications of pathogenicity
YARS2
(G191V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
YARS2
(K209R)
Single nucleotide variant
(missense variant)
YARS2-related disorder
+3 more
GConflicting classifications of pathogenicity
YARS2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
YARS2
Single nucleotide variant
(synonymous variant)
Myopathy, lactic acidosis, and sideroblastic anemia
+3 more
GConflicting classifications of pathogenicity
YARS2
(F306S)
Single nucleotide variant
(missense variant)
Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis
+1 more
GUncertain significance
YARS2
Single nucleotide variant
(synonymous variant)
YARS2-related disorder
+4 more
GConflicting classifications of pathogenicity
YARS2
(D312H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
YARS2
(R414H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DNM1L, YARS2
Single nucleotide variant
(synonymous variant)
Myopathy, lactic acidosis, and sideroblastic anemia
+4 more
GBenign/Likely benign
YARS2
Single nucleotide variant
(3 prime UTR variant)
Myopathy, lactic acidosis, and sideroblastic anemia
+1 more
GUncertain significance
DNM1L, YARS2
Single nucleotide variant
(3 prime UTR variant)
Myopathy, lactic acidosis, and sideroblastic anemia
+3 more
GConflicting classifications of pathogenicity
DNM1L, YARS2
Single nucleotide variant
(3 prime UTR variant)
Myopathy, lactic acidosis, and sideroblastic anemia
+3 more
GConflicting classifications of pathogenicity
DNM1L, YARS2
Single nucleotide variant
(3 prime UTR variant)
not provided
+4 more
GBenign/Likely benign
YARS2, DNM1L
Single nucleotide variant
(3 prime UTR variant)
Myopathy, lactic acidosis, and sideroblastic anemia
+4 more
GBenign/Likely benign
DNM1L, YARS2
Single nucleotide variant
(3 prime UTR variant)
Myopathy, lactic acidosis, and sideroblastic anemia
+4 more
GBenign/Likely benign
YARS2, DNM1L
Single nucleotide variant
(3 prime UTR variant)
Myopathy, lactic acidosis, and sideroblastic anemia
+3 more
GConflicting classifications of pathogenicity
DNM1L, YARS2
Single nucleotide variant
(3 prime UTR variant)
Myopathy, lactic acidosis, and sideroblastic anemia
+3 more
GConflicting classifications of pathogenicity
DNM1L, YARS2
Single nucleotide variant
(3 prime UTR variant)
not provided
+4 more
GBenign/Likely benign
YARS2
Single nucleotide variant
(3 prime UTR variant)
Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis
+1 more
GUncertain significance
DNM1L, YARS2
Single nucleotide variant
(3 prime UTR variant)
Myopathy, lactic acidosis, and sideroblastic anemia
+3 more
GBenign/Likely benign
YARS2
(D311E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
YARS2
(G68S)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
YARS2
(A35D)
Single nucleotide variant
(missense variant)
Myopathy, lactic acidosis, and sideroblastic anemia 2
+4 more
GConflicting classifications of pathogenicity
YARS2
(I251V)
Single nucleotide variant
(missense variant)
Myopathy, lactic acidosis, and sideroblastic anemia 2
+1 more
GLikely pathogenic
YARS2
(D121fs)
Duplication
(frameshift variant)
Myopathy, lactic acidosis, and sideroblastic anemia 2
GPathogenic
YARS2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
YARS2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
YARS2
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
YARS2
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
YARS2
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GConflicting classifications of pathogenicity
YARS2
(S435G)
Single nucleotide variant
(missense variant)
Myopathy, lactic acidosis, and sideroblastic anemia 2
GPathogenic
YARS2
(R360*)
Single nucleotide variant
(nonsense)
Myopathy, lactic acidosis, and sideroblastic anemia 2
GPathogenic
YARS2
(G191D)
Single nucleotide variant
(missense variant)
Myopathy, lactic acidosis, and sideroblastic anemia 2
GPathogenic
YARS2
(G46D)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
YARS2
(F52L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
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