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Items: 1 to 100 of 133

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
YME1L1
(L770S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YME1L1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
YME1L1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
YME1L1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
YME1L1
(H734R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YME1L1
(H734Y +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YME1L1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
YME1L1
Single nucleotide variant
(intron variant)
Optic atrophy 11
+1 more
GBenign
YME1L1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
YME1L1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
YME1L1
(T713S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YME1L1
(K618R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YME1L1
(D615E +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YME1L1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
YME1L1
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
YME1L1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
YME1L1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
YME1L1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
YME1L1
(K596M +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YME1L1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
YME1L1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
YME1L1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
YME1L1
(L571V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YME1L1
(I526V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YME1L1
(Y551H +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
YME1L1
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
YME1L1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
YME1L1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
YME1L1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
YME1L1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
YME1L1
(V472I +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YME1L1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
YME1L1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
YME1L1
Deletion
(intron variant)
not provided
GLikely benign
YME1L1
(W428C +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
YME1L1
(R437C +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YME1L1
Duplication
(intron variant)
not provided
GBenign
YME1L1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
YME1L1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
YME1L1
(A339V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YME1L1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
YME1L1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
YME1L1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
YME1L1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
YME1L1
(V288A +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YME1L1
(V321F +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YME1L1
Single nucleotide variant
(intron variant)
not provided
GBenign
YME1L1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
YME1L1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
YME1L1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
YME1L1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
YME1L1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
YME1L1
(L367V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YME1L1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
YME1L1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
YME1L1
(H250Y +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YME1L1
(S269T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YME1L1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
YME1L1
(R319Q +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
YME1L1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
YME1L1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
YME1L1
(F256L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YME1L1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
YME1L1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
YME1L1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
YME1L1
(I206M +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YME1L1
(R202Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YME1L1
Microsatellite
(intron variant)
not provided
GBenign
YME1L1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
YME1L1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
YME1L1
Inversion
(intron variant)
not provided
GUncertain significance
YME1L1
Single nucleotide variant
(intron variant)
Optic atrophy 11
+1 more
GBenign
YME1L1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
YME1L1
(A183V +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
YME1L1
(G271A +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YME1L1
(G181S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YME1L1
(A263V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YME1L1
(E262K +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YME1L1
(R242W +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
YME1L1
Single nucleotide variant
(intron variant)
Optic atrophy 11
+1 more
GBenign
YME1L1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
YME1L1
Duplication
(intron variant)
not provided
GLikely benign
YME1L1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
YME1L1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
YME1L1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
YME1L1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
YME1L1
(E166K +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YME1L1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
YME1L1
(R217H +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YME1L1
(I203T +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
YME1L1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
YME1L1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
YME1L1
(Q140R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
YME1L1
(H184R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
YME1L1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
YME1L1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
YME1L1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
YME1L1
(Q160L +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
YME1L1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
YME1L1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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