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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAB9B, PLP1
Single nucleotide variant
(5 prime UTR variant)
Pelizaeus-Merzbacher disease
+2 more
GBenign/Likely benign
PLP1, RAB9B
Single nucleotide variant
(synonymous variant +1 more)
PLP1-related condition
+5 more
GBenign/Likely benign
PLP1, RAB9B
(A29V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLP1, RAB9B
(L30H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLP1, RAB9B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+5 more
GBenign
PLP1, RAB9B
(Y263* +2 more)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
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