"GeneDx"[submitter] AND "IL4I1"[gene] - 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 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 129848	NM_016553.5(NUP62):c.648C>T (p.Ser216=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	Infantile bilateral striatal necrosis +2 more	GBenign

Format

Sort by

Choose Destination