"PreventionGenetics, part of Exact Sciences"[submitter] AND "VPS45"[ge - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 991390	NM_007259.5(VPS45):c.-4C>T	VPS45	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2188176	NM_007259.5(VPS45):c.57G>A (p.Gly19=)	VPS45	Single nucleotide variant (5 prime UTR variant +3 more)	VPS45-related disorder +1 more	GLikely benign
Select item 260155	NM_007259.5(VPS45):c.290-10T>C	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome +1 more	GBenign/Likely benign
Select item 437261	NM_007259.5(VPS45):c.318C>T (p.Asp106=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 3013712	NM_007259.5(VPS45):c.582G>A (p.Val194=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	VPS45-related disorder +1 more	GLikely benign
Select item 3044082	NM_007259.5(VPS45):c.594A>G (p.Glu198=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	VPS45-related disorder	GLikely benign
Select item 1157851	NM_007259.5(VPS45):c.702C>G (p.Ala234=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	VPS45-related disorder +1 more	GLikely benign
Select item 760620	NM_007259.5(VPS45):c.939G>A (p.Ala313=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome +1 more	GLikely benign
Select item 1147226	NM_007259.5(VPS45):c.1297C>A (p.Arg433=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 1132187	NM_007259.5(VPS45):c.1473C>T (p.Gly491=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	VPS45-related disorder +1 more	GLikely benign