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Items: 1 to 100 of 297

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A2M, A2M-AS1
+1258 more
Copy number gain
See cases
GPathogenic
A2M, A2M-AS1
+1258 more
Copy number gain
See cases
GPathogenic
LOC130007649, LOC130007650
+1258 more
Copy number gain
See cases
GPathogenic
A2M, A2M-AS1
+1257 more
Copy number gain
See cases
GPathogenic
LOC126861648, LOC126861649
+4836 more
Copy number gain
See cases
GPathogenic
LOC130007425, LOC130007426
+1257 more
Copy number gain
See cases
GPathogenic
WBP11, WNK1
+1242 more
Copy number gain
See cases
GPathogenic
ALG10, AMN1
+242 more
Copy number loss
See cases
GPathogenic
DNM1L, FGD4
+7 more
Duplication
Arrhythmogenic right ventricular dysplasia 9
GUncertain significance
DNM1L, LOC126861496
+10 more
Copy number gain
See cases
GUncertain significance
DNM1L, LOC126861497
+4 more
Copy number gain
See cases
GPathogenic
DNM1L, YARS2
Single nucleotide variant
(3 prime UTR variant)
not provided
+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
DNM1L, YARS2
Single nucleotide variant
(3 prime UTR variant)
Myopathy, lactic acidosis, and sideroblastic anemia
+2 more
GBenign/Likely benign
DNM1L, YARS2
Single nucleotide variant
(3 prime UTR variant)
Myopathy, lactic acidosis, and sideroblastic anemia
+2 more
GLikely benign
DNM1L, YARS2
Single nucleotide variant
(3 prime UTR variant)
Myopathy, lactic acidosis, and sideroblastic anemia
+2 more
GBenign/Likely benign
DNM1L, YARS2
Single nucleotide variant
(3 prime UTR variant)
Myopathy, lactic acidosis, and sideroblastic anemia
+1 more
GLikely benign
DNM1L, YARS2
Single nucleotide variant
(3 prime UTR variant)
Myopathy, lactic acidosis, and sideroblastic anemia
+1 more
GBenign
DNM1L, YARS2
Single nucleotide variant
(3 prime UTR variant)
Myopathy, lactic acidosis, and sideroblastic anemia
+1 more
GLikely benign
DNM1L, YARS2
Single nucleotide variant
(3 prime UTR variant)
Myopathy, lactic acidosis, and sideroblastic anemia
+1 more
GLikely benign
DNM1L, YARS2
Single nucleotide variant
(3 prime UTR variant)
Myopathy, lactic acidosis, and sideroblastic anemia
+2 more
GBenign/Likely benign
DNM1L, YARS2
Single nucleotide variant
(3 prime UTR variant)
Myopathy, lactic acidosis, and sideroblastic anemia
+2 more
GBenign/Likely benign
DNM1L, YARS2
Single nucleotide variant
(3 prime UTR variant)
Myopathy, lactic acidosis, and sideroblastic anemia
+3 more
GBenign/Likely benign
YARS2
Single nucleotide variant
(3 prime UTR variant)
Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis
+1 more
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
GUncertain significance
YARS2
Single nucleotide variant
(3 prime UTR variant)
Myopathy, lactic acidosis, and sideroblastic anemia 2
GLikely benign
DNM1L, YARS2
Single nucleotide variant
(3 prime UTR variant)
not provided
+4 more
GBenign/Likely benign
YARS2
Single nucleotide variant
(3 prime UTR variant)
Myopathy, lactic acidosis, and sideroblastic anemia 2
GUncertain significance
DNM1L, YARS2
Single nucleotide variant
(3 prime UTR variant)
Myopathy, lactic acidosis, and sideroblastic anemia
+3 more
GConflicting classifications of pathogenicity
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
+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)
not provided
+4 more
GBenign/Likely benign
DNM1L, YARS2
Single nucleotide variant
(3 prime UTR variant)
Myopathy, lactic acidosis, and sideroblastic anemia
+3 more
GConflicting classifications of pathogenicity
DNM1L, YARS2
Deletion
(3 prime UTR variant)
Lethal Encephalopathy
+2 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
YARS2
Single nucleotide variant
(3 prime UTR variant)
Myopathy, lactic acidosis, and sideroblastic anemia
+1 more
GUncertain significance
YARS2
(Q476R)
Single nucleotide variant
(missense variant)
Myopathy, lactic acidosis, and sideroblastic anemia 2
GUncertain significance
YARS2
(Y470C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
YARS2
(K466E)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
YARS2
(L462fs)
Microsatellite
(frameshift variant)
not provided
GUncertain significance
YARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
YARS2
(I454fs)
Indel
(frameshift variant)
not provided
GLikely pathogenic
DNM1L, YARS2
Single nucleotide variant
(synonymous variant)
Myopathy, lactic acidosis, and sideroblastic anemia
+4 more
GBenign/Likely benign
YARS2
(Q452L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
YARS2
(H438del)
Deletion
(inframe_deletion)
not provided
GUncertain significance
YARS2
(N437I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YARS2
(S435G)
Single nucleotide variant
(missense variant)
Myopathy, lactic acidosis, and sideroblastic anemia 2
GPathogenic
YARS2
(R427Q)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
YARS2
(R427*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
YARS2
Duplication
(splice acceptor variant)
not provided
GConflicting classifications of pathogenicity
YARS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
YARS2
Single nucleotide variant
(intron variant)
not provided
GBenign
YARS2
Duplication
(intron variant)
not provided
GBenign
YARS2
Single nucleotide variant
(intron variant)
not provided
GBenign
YARS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
YARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
YARS2
(R424Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YARS2
(R414L)
Single nucleotide variant
(missense variant)
Myopathy, lactic acidosis, and sideroblastic anemia 2
GUncertain significance
YARS2
(R414H)
Single nucleotide variant
(missense variant)
Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis
+2 more
GUncertain significance
YARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
YARS2
(D404N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
YARS2
(P397S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GLikely benign
YARS2
(A396G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YARS2
Duplication
(inframe_insertion)
Mitochondrial disease
GPathogenic
YARS2
(S385C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YARS2
(L381V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
YARS2
(I378T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
YARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
YARS2
(C369Y)
Single nucleotide variant
(missense variant)
Mitochondrial disease
GPathogenic
YARS2
(C369S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YARS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
YARS2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
YARS2
Duplication
(intron variant)
Myopathy, lactic acidosis, and sideroblastic anemia
+2 more
GConflicting classifications of pathogenicity
YARS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
YARS2
Single nucleotide variant
(intron variant)
not provided
GBenign
YARS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
YARS2
Single nucleotide variant
(intron variant)
not provided
GBenign
YARS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
YARS2
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
YARS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
YARS2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
YARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
YARS2
(R360*)
Single nucleotide variant
(nonsense)
Myopathy, lactic acidosis, and sideroblastic anemia 2
GPathogenic
YARS2
(R348Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YARS2
(K347E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YARS2
(R343Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
YARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
YARS2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
YARS2
(E341G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YARS2
(E341K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
YARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
YARS2
(P340S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
YARS2
(M333V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YARS2
(I332V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YARS2
(H331Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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