"Genome-Nilou Lab"[submitter] AND "VPS53"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 380879	NM_001128159.3(VPS53):c.2328+15A>G	VPS53	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 2E +2 more	GBenign
Select item 376850	NM_001128159.3(VPS53):c.2062A>G (p.Ile688Val)	VPS53 (I688V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 670858	NM_001128159.3(VPS53):c.1867-71T>C	VPS53	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 2E +1 more	GBenign
Select item 670269	NM_001128159.3(VPS53):c.1867-81C>T	VPS53	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 2E +1 more	GBenign
Select item 1185378	NM_001128159.3(VPS53):c.1557-30T>C	LOC126862456, VPS53	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 2E +1 more	GBenign
Select item 380878	NM_001128159.3(VPS53):c.1524C>T (p.Tyr508=)	VPS53	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 2E +2 more	GBenign
Select item 1234128	NM_001128159.3(VPS53):c.1314-19dup	VPS53	Duplication (intron variant)	not provided +1 more	GBenign
Select item 1185460	NM_001128159.3(VPS53):c.1218+817A>G	VPS53	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 2E +1 more	GBenign
Select item 670839	NM_001128159.3(VPS53):c.1218+57G>C	LOC126862457, VPS53	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 2E +1 more	GBenign
Select item 380924	NM_001128159.3(VPS53):c.1117-3C>T	LOC126862457, VPS53	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1185461	NM_001128159.3(VPS53):c.1117-26T>C	LOC126862457, VPS53	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 2E +1 more	GBenign
Select item 670860	NM_001128159.3(VPS53):c.1117-91C>G	LOC126862457, VPS53	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 2E +1 more	GBenign
Select item 380877	NM_001128159.3(VPS53):c.219-11T>C	VPS53	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 670835	NM_001128159.3(VPS53):c.218+102C>G	VPS53	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 380894	NM_001128159.3(VPS53):c.81C>T (p.Ile27=)	VPS53	Single nucleotide variant (synonymous variant +1 more)	Pontocerebellar hypoplasia type 2E +2 more	GBenign
Select item 670268	NM_001128159.3(VPS53):c.-90C>T	VPS53	Single nucleotide variant (5 prime UTR variant)	Pontocerebellar hypoplasia type 2E +1 more	GBenign