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Links from MedGen

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
YME1L1
(S150C +1 more)
Single nucleotide variant
(missense variant)
Optic atrophy 11
GUncertain significance
YME1L1
Single nucleotide variant
(intron variant)
Optic atrophy 11
+1 more
GBenign
YME1L1
Single nucleotide variant
(intron variant)
Optic atrophy 11
+1 more
GBenign
YME1L1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
YME1L1
Single nucleotide variant
(3 prime UTR variant)
Optic atrophy 11
+1 more
GBenign
YME1L1
Single nucleotide variant
(synonymous variant)
Optic atrophy 11
+1 more
GBenign
YME1L1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
YME1L1
(K687R +2 more)
Single nucleotide variant
(missense variant)
Optic atrophy 11
GUncertain significance
YME1L1
(R149W +2 more)
Single nucleotide variant
(missense variant)
Optic atrophy 11
GPathogenic
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