ClinVar for MedGen (Select 934594) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 8

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 15002221.	NM_022916.6(VPS33A):c.599G>C (p.Arg200Pro) GRCh37: Chr12:122735531 GRCh38: Chr12:122250984	VPS33A	R184P, R189P, R200P	not provided	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 12566442.	NM_022916.6(VPS33A):c.1165-82GT[19] GRCh37: Chr12:122723317-122723318 GRCh38: Chr12:122238770-122238771	VPS33A		Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders, not provided	Benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12375233.	NM_022916.6(VPS33A):c.1440+23G>A GRCh37: Chr12:122720310 GRCh38: Chr12:122235763	VPS33A		Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders, not provided	Benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10298704.	NM_022916.6(VPS33A):c.1457C>T (p.Ser486Leu) GRCh37: Chr12:122717499 GRCh38: Chr12:122232952	VPS33A	S486L, S379L, S475L, S470L	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	Uncertain significance (Jan 20, 2020)	criteria provided, single submitter
Select item 10298695.	NM_022916.6(VPS33A):c.1420A>G (p.Met474Val) GRCh37: Chr12:122720353 GRCh38: Chr12:122235806	VPS33A	M463V, M367V, M458V, M474V	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	Uncertain significance (Jan 20, 2020)	criteria provided, single submitter
Select item 7786676.	NM_022916.6(VPS33A):c.282T>C (p.Ala94=) GRCh37: Chr12:122748133 GRCh38: Chr12:122263586	VPS33A		Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders, not provided	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 7084407.	NM_022916.6(VPS33A):c.624G>A (p.Arg208=) GRCh37: Chr12:122734569 GRCh38: Chr12:122250022	VPS33A		not provided, Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3749858.	NM_022916.6(VPS33A):c.1492C>T (p.Arg498Trp) GRCh37: Chr12:122717464 GRCh38: Chr12:122232917	VPS33A	R498W, R391W, R487W, R482W	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	Pathogenic (Nov 16, 2020)	no assertion criteria provided