List of variants in gene VPS53 reported as likely pathogenic for central nervous system malformation

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001128159.3(VPS53):c.1312_1313+2del	rs768997239	0.00003
NM_001128159.3(VPS53):c.1556+5G>A	rs587777466	0.00001
NC_000017.10:g.(465986_489509)_(489605_505034)dup
NC_000017.10:g.(?_411907)_(618097_?)del
NM_001128159.3(VPS53):c.1516C>T (p.Arg506Ter)	rs200594402
NM_001128159.3(VPS53):c.1787+1G>A
NM_001128159.3(VPS53):c.594del (p.Gln199fs)
NM_001128159.3(VPS53):c.692C>T (p.Pro231Leu)	rs1472685858
NM_001128159.3(VPS53):c.869G>A (p.Trp290Ter)	rs370828258

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