"Baylor Genetics"[submitter] AND "RAB9B"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 209183	NM_000533.5(PLP1):c.1A>G (p.Met1Val)	RAB9B, PLP1 (M1V)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 2 +1 more	GPathogenic
Select item 1028820	NM_000533.5(PLP1):c.21T>A (p.Cys7Ter)	PLP1, RAB9B (C7*)	Single nucleotide variant (nonsense +1 more)	Pelizaeus-Merzbacher disease	GPathogenic
Select item 561089	NM_000533.5(PLP1):c.41C>A (p.Ala14Asp)	PLP1, RAB9B (A14D)	Single nucleotide variant (missense variant +1 more)	Pelizaeus-Merzbacher disease +1 more	GUncertain significance
Select item 211916	NM_000533.5(PLP1):c.49G>A (p.Ala17Thr)	RAB9B, PLP1 (A17T)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 561088	NM_000533.5(PLP1):c.166C>T (p.Gln56Ter)	PLP1, RAB9B (Q56*)	Single nucleotide variant (nonsense +1 more)	Pelizaeus-Merzbacher disease	GPathogenic
Select item 2582655	NM_000533.5(PLP1):c.191+6T>C	PLP1, RAB9B	Single nucleotide variant (intron variant)	Pelizaeus-Merzbacher disease	GUncertain significance
Select item 520586	NM_000533.5(PLP1):c.354_355del (p.Gly120fs)	PLP1, RAB9B (G65fs +1 more)	Deletion (frameshift variant +1 more)	Pelizaeus-Merzbacher disease +3 more	GPathogenic/Likely pathogenic
Select item 1028821	NM_000533.5(PLP1):c.454-20C>A	PLP1, RAB9B	Single nucleotide variant (intron variant)	Pelizaeus-Merzbacher disease	GUncertain significance
Select item 1029901	NM_000533.5(PLP1):c.670C>A (p.Leu224Ile)	PLP1, RAB9B (L224I +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 2	GLikely pathogenic
Select item 561090	NM_000533.5(PLP1):c.677C>G (p.Ser226Cys)	PLP1, RAB9B (S226C +2 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease +1 more	GUncertain significance