"OMIM"[submitter] AND "RERE"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 418456	NM_001042681.2(RERE):c.4307TCCACC[3] (p.1436LH[3])	RERE	Microsatellite (inframe_insertion)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 522858	NM_001042681.2(RERE):c.4304A>G (p.His1435Arg)	RERE (H1435R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart +1 more	GPathogenic/Likely pathogenic
Select item 224822	NM_001042681.2(RERE):c.4293C>A (p.His1431Gln)	RERE (H1431Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 236217	NM_001042681.2(RERE):c.3785C>G (p.Pro1262Arg)	RERE (P1262R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 236216	NM_001042681.2(RERE):c.3466G>A (p.Gly1156Arg)	RERE (G1156R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 236219	NM_001042681.2(RERE):c.2249_2270dup (p.Thr758fs)	RERE (T758fs +1 more)	Duplication (frameshift variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GPathogenic

ClinVar