C3538951[trait identifier] AND "3billion"[submitter] - ClinVar

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

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2572525	NM_000428.3(LTBP2):c.4033+1G>C	LTBP2	Single nucleotide variant (splice donor variant)	Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma	GPathogenic
Select item 595867	NM_000428.3(LTBP2):c.1686+3G>A	LTBP2	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity