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Items: 55

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC112272600, MYO1E
(G1040R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOC112272600, MYO1E
Single nucleotide variant
(intron variant)
Focal segmental glomerulosclerosis 6
+1 more
GLikely benign
MYO1E
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
MYO1E
(T1003A)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis 6
+1 more
GUncertain significance
MYO1E
Single nucleotide variant
(intron variant)
Focal segmental glomerulosclerosis 6
+1 more
GLikely benign
MYO1E
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
MYO1E
(N938D)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis 6
+1 more
GUncertain significance
MYO1E
(H900Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYO1E
Single nucleotide variant
(synonymous variant)
Focal segmental glomerulosclerosis 6
+1 more
GLikely benign
MYO1E
Single nucleotide variant
(intron variant)
Focal segmental glomerulosclerosis 6
+1 more
GLikely benign
MYO1E
Single nucleotide variant
(intron variant)
Focal segmental glomerulosclerosis 6
+1 more
GBenign
MYO1E
(V824L)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis 6
+2 more
GUncertain significance
MYO1E
(E817A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYO1E
(K800I)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis 6
+1 more
GUncertain significance
MYO1E
Single nucleotide variant
(intron variant)
Focal segmental glomerulosclerosis 6
+1 more
GBenign/Likely benign
MYO1E
Indel
(intron variant)
Focal segmental glomerulosclerosis 6
+1 more
GLikely benign
MYO1E
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
MYO1E
Single nucleotide variant
(synonymous variant)
Focal segmental glomerulosclerosis 6
+1 more
GBenign/Likely benign
MYO1E
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
MYO1E
(E731D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYO1E
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
MYO1E
Single nucleotide variant
(intron variant)
Focal segmental glomerulosclerosis 6
+1 more
GLikely benign
MYO1E
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
MYO1E
(R700Q)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis 6
+1 more
GUncertain significance
MYO1E
Single nucleotide variant
(intron variant)
Focal segmental glomerulosclerosis 6
+1 more
GUncertain significance
MYO1E
(D667N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYO1E
Single nucleotide variant
(intron variant)
Focal segmental glomerulosclerosis 6
+1 more
GLikely benign
MYO1E
Single nucleotide variant
(synonymous variant)
Focal segmental glomerulosclerosis 6
+1 more
GLikely benign
MYO1E
(Y583H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
MYO1E
Single nucleotide variant
(synonymous variant)
Focal segmental glomerulosclerosis 6
+1 more
GBenign/Likely benign
MYO1E
(A552T)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis 6
+1 more
GUncertain significance
MYO1E
(P540T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
MYO1E
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
MYO1E
Single nucleotide variant
(intron variant)
Focal segmental glomerulosclerosis 6
+1 more
GBenign/Likely benign
MYO1E
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
MYO1E
Single nucleotide variant
(intron variant)
Focal segmental glomerulosclerosis 6
+1 more
GLikely benign
MYO1E
(I384T)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis 6
+1 more
GUncertain significance
MYO1E
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
MYO1E
(Q327*)
Single nucleotide variant
(nonsense)
Focal segmental glomerulosclerosis 6
GPathogenic
MYO1E
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
MYO1E
(A280V)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis 6
+1 more
GUncertain significance
MYO1E
(T273M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
MYO1E
(T258A)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis 6
+2 more
GUncertain significance
MYO1E
Deletion
(inframe_indel)
not provided
+1 more
GUncertain significance
MYO1E
(Y234C)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis 6
+1 more
GUncertain significance
MYO1E
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
MYO1E
Single nucleotide variant
(intron variant)
Kidney disorder
+2 more
GBenign/Likely benign
MYO1E
(D185G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
MYO1E
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
MYO1E
Single nucleotide variant
(intron variant)
Focal segmental glomerulosclerosis 6
+1 more
GBenign
MYO1E
(R163W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
MYO1E
(I145V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYO1E
Single nucleotide variant
(intron variant)
Focal segmental glomerulosclerosis 6
+1 more
GBenign/Likely benign
MYO1E
(N15S)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis 6
+1 more
GUncertain significance
MYO1E
(Y7C)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis 6
+1 more
GUncertain significance
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