C2931187[trait identifier] AND "3billion"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 188834	NM_004937.3(CTNS):c.18_21del (p.Thr7fs)	CTNS (T7fs)	Deletion (frameshift variant +2 more)	not provided +6 more	GPathogenic
Select item 1705610	NM_004937.3(CTNS):c.140+1G>C	CTNS	Single nucleotide variant (splice donor variant +1 more)	Nephropathic cystinosis	GLikely pathogenic
Select item 553330	NM_004937.3(CTNS):c.681G>A (p.Glu227=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant)	Nephropathic cystinosis +4 more	GPathogenic
Select item 1705665	NM_004937.3(CTNS):c.751_752del (p.Thr251fs)	CTNS (T104fs +1 more)	Deletion (frameshift variant)	Ocular cystinosis +3 more	GPathogenic
Select item 267310	NM_004937.3(CTNS):c.922G>A (p.Gly308Arg)	CTNS (G308R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 4455	NM_004937.3(CTNS):c.1015G>A (p.Gly339Arg)	CTNS (G339R +1 more)	Single nucleotide variant (missense variant)	Ocular cystinosis +5 more	GPathogenic

ClinVar