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Links from Gene

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DEGS1
(H128L +1 more)
Single nucleotide variant
(missense variant)
Leukodystrophy, hypomyelinating, 18
GUncertain significance
DEGS1
(H223Y +1 more)
Single nucleotide variant
(missense variant)
Leukodystrophy, hypomyelinating, 18
GLikely pathogenic
DEGS1
(P119Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DEGS1
(R137P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DEGS1, LOC129932581
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
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