"Fulgent Genetics, Fulgent Genetics"[submitter] AND "RERE"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 783922	NM_001042681.2(RERE):c.4528C>A (p.Pro1510Thr)	RERE (P1510T +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart +1 more	GBenign/Likely benign
Select item 1048912	NM_001042681.2(RERE):c.3847C>T (p.Pro1283Ser)	RERE (P1283S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart +2 more	GConflicting classifications of pathogenicity
Select item 721969	NM_001042681.2(RERE):c.3696C>T (p.Phe1232=)	RERE	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 710835	NM_001042681.2(RERE):c.3570GGAGCG[4] (p.1192RE[6])	RERE	Microsatellite (inframe_insertion)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart +1 more	GBenign/Likely benign
Select item 777879	NM_001042681.2(RERE):c.3556AAGGAG[4] (p.1186KE[4])	RERE	Microsatellite (inframe_insertion)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart +2 more	GBenign
Select item 715993	NM_001042681.2(RERE):c.3556AAGGAG[2] (p.1186KE[2])	RERE	Microsatellite (inframe_deletion)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart +1 more	GBenign/Likely benign
Select item 1599655	NM_001042681.2(RERE):c.1524C>T (p.Arg508=)	RERE	Single nucleotide variant (synonymous variant +1 more)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart +1 more	GBenign/Likely benign
Select item 445602	NM_001042681.2(RERE):c.879+20C>T	RERE	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart +1 more	GBenign/Likely benign