ClinVar for MedGen (Select 332018) - ClinVar

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

Format

Sort by

Choose Destination

Links from MedGen

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 915339	NM_001007237.3(IGSF3):c.1724G>A (p.Trp575Ter)	IGSF3 (W595* +1 more)	Single nucleotide variant (nonsense)	Familial congenital nasolacrimal duct obstruction +1 more	GPathogenic/Likely pathogenic
Select item 162496	NM_001007237.3(IGSF3):c.2935del (p.Arg979fs)	IGSF3 (R979fs +1 more)	Deletion (frameshift variant)	Familial congenital nasolacrimal duct obstruction	GPathogenic