"PreventionGenetics, part of Exact Sciences"[submitter] AND "PLP1"[gen - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3055419	NM_000533.5(PLP1):c.4+74G>T	PLP1, RAB9B	Single nucleotide variant (intron variant)	PLP1-related disorder	GLikely benign
Select item 3030928	NM_000533.5(PLP1):c.83G>A (p.Gly28Glu)	PLP1, RAB9B (G28E)	Single nucleotide variant (missense variant +1 more)	PLP1-related disorder	GUncertain significance
Select item 129975	NM_000533.5(PLP1):c.168A>G (p.Gln56=)	RAB9B, PLP1	Single nucleotide variant (synonymous variant +1 more)	PLP1-related disorder +5 more	GBenign/Likely benign
Select item 2910315	NM_000533.5(PLP1):c.259C>T (p.Leu87=)	PLP1, RAB9B	Single nucleotide variant (synonymous variant)	PLP1-related disorder +1 more	GLikely benign
Select item 2631183	NM_000533.5(PLP1):c.308A>G (p.Asp103Gly)	PLP1, RAB9B (D103G +1 more)	Single nucleotide variant (missense variant)	PLP1-related disorder	GUncertain significance
Select item 3032269	NM_000533.5(PLP1):c.453+55C>T	PLP1, RAB9B	Single nucleotide variant (intron variant)	PLP1-related disorder	GLikely benign
Select item 3033192	NM_000533.5(PLP1):c.517C>A (p.Pro173Thr)	PLP1, RAB9B (P118T +2 more)	Single nucleotide variant (missense variant)	PLP1-related disorder	GUncertain significance
Select item 1599688	NM_000533.5(PLP1):c.549C>A (p.Thr183=)	PLP1, RAB9B	Single nucleotide variant (synonymous variant)	PLP1-related disorder +1 more	GBenign/Likely benign
Select item 93232	NM_000533.5(PLP1):c.609T>C (p.Asp203=)	PLP1, RAB9B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GBenign
Select item 256377	NM_000533.5(PLP1):c.622+15G>A	PLP1, RAB9B	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign