"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "VPS4A"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1675630	NM_013245.3(VPS4A):c.133T>C (p.Tyr45His)	LOC126862382, VPS4A (Y45H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2646668	NM_013245.3(VPS4A):c.390C>T (p.Ala130=)	VPS4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1335218	NM_013245.3(VPS4A):c.418A>G (p.Lys140Glu)	VPS4A (K140E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 808064	NM_013245.3(VPS4A):c.598A>G (p.Lys200Glu)	VPS4A (K200E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2646669	NM_013245.3(VPS4A):c.651G>A (p.Arg217=)	VPS4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2646670	NM_013245.3(VPS4A):c.711T>C (p.Asn237=)	VPS4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646671	NM_013245.3(VPS4A):c.960C>T (p.His320=)	VPS4A	Single nucleotide variant (synonymous variant)	not provided	GBenign

ClinVar