ClinVar (all) for Orgtrack (Select 506312) - ClinVar

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

Format

Sort by

Choose Destination

Links from Orgtrack

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 599277	NM_031296.3(RAB33B):c.186del (p.Glu63fs)	LOC129993110, RAB33B (E63fs)	Deletion (frameshift variant)	Smith-McCort dysplasia 2	GPathogenic/Likely pathogenic
Select item 437864	NM_001172509.2(SATB2):c.674G>A (p.Trp225Ter)	SATB2 (W225*)	Single nucleotide variant (nonsense)	Chromosome 2q32-q33 deletion syndrome +1 more	GConflicting classifications of pathogenicity