ClinVar for MedGen (Select 760976) - 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 526030	NM_004937.3(CTNS):c.971-12G>A	CTNS	Single nucleotide variant (intron variant)	Ocular cystinosis +4 more	GPathogenic
Select item 188834	NM_004937.3(CTNS):c.18_21del (p.Thr7fs)	CTNS (T7fs)	Deletion (frameshift variant +2 more)	CTNS-related condition +7 more	GPathogenic
Select item 21442	NM_004937.3(CTNS):c.559_561+24del	CTNS, CTNS-AS1	Deletion (splice donor variant)	Infantile nephropathic cystinosis +4 more	GPathogenic/Likely pathogenic

Format

Sort by

Choose Destination