ClinVar for PubMed (Select 15052268) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2419079	NM_018668.5(VPS33B):c.778+2T>G	VPS33B	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1686296	NM_018668.5(VPS33B):c.84T>A (p.Tyr28Ter)	VPS33B (Y28*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GPathogenic
Select item 1495328	NM_018668.5(VPS33B):c.701-1G>A	VPS33B	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1323756	NM_018668.5(VPS33B):c.277C>T (p.Arg93Ter)	VPS33B (R2* +2 more)	Single nucleotide variant (nonsense)	VPS33B-related condition +1 more	GPathogenic
Select item 592032	NM_018668.5(VPS33B):c.96+1G>T	VPS33B	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 437260	NM_018668.5(VPS33B):c.1498G>T (p.Glu500Ter)	VPS33B (E500* +2 more)	Single nucleotide variant (nonsense)	Arthrogryposis, renal dysfunction, and cholestasis 1 +1 more	GPathogenic
Select item 427838	NM_018668.4(VPS33B):c.[1030+1G>T];[319C>T]			Arthrogryposis, renal dysfunction, and cholestasis 1	GPathogenic
Select item 375326	NM_018668.5(VPS33B):c.319C>T (p.Arg107Ter)	VPS33B (R107* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2203	NM_018668.5(VPS33B):c.89T>C (p.Leu30Pro)	VPS33B (L30P)	Single nucleotide variant (missense variant +1 more)	Arthrogryposis, renal dysfunction, and cholestasis 1	GPathogenic
Select item 2202	NM_018668.5(VPS33B):c.1312C>T (p.Arg438Ter)	VPS33B (R438* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2201	NM_018668.5(VPS33B):c.1594C>T (p.Arg532Ter)	VPS33B (R532* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic