C1845672[trait identifier] AND "Institute of Human Genetics, Universit - 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 1691846	NM_001318510.2(ACSL4):c.1653_1654insT (p.Lys552Ter)	ACSL4 (K552* +1 more)	Insertion (nonsense)	Intellectual disability, X-linked 63	GLikely pathogenic
Select item 982673	NM_001318510.2(ACSL4):c.516+8T>G	ACSL4	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 63 +1 more	GLikely benign