ClinVar for OMIM (Select 600046) - ClinVar

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

Format

Sort by

Choose Destination

Links from OMIM

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 8015	NM_001089.3(ABCA3):c.1702A>G (p.Asn568Asp)	ABCA3 (N568D)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency	GPathogenic
Select item 6660	NM_138554.5(TLR4):c.896A>G (p.Asp299Gly)	TLR4 (D299G +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign