"New York Genome Center"[submitter] AND "RERE"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1701640	NM_001042681.2(RERE):c.3591G>T (p.Glu1197Asp)	RERE (E1197D +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 521884	NM_001042681.2(RERE):c.3265C>G (p.Pro1089Ala)	RERE (P1089A +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart +1 more	GUncertain significance
Select item 996896	NM_001042681.2(RERE):c.3094C>T (p.Pro1032Ser)	RERE (P1032S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1184422	NM_001042681.2(RERE):c.2764C>G (p.Pro922Ala)	RERE (P368A +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1696298	NM_001042681.2(RERE):c.2557G>A (p.Gly853Ser)	RERE (G299S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 978162	NM_001042681.2(RERE):c.1768A>C (p.Lys590Gln)	RERE (K36Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2435406	NM_001042681.2(RERE):c.1735G>A (p.Gly579Ser)	RERE (G25S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1213712	NM_001042681.2(RERE):c.1712G>A (p.Ser571Asn)	RERE (S17N +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1184388	NM_001042681.2(RERE):c.1203+3653A>G	RERE	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1184385	NM_001042681.2(RERE):c.1190C>T (p.Thr397Ile)	RERE (T397I)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1696688	NM_001042681.2(RERE):c.522+3644C>T	RERE	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1184294	NM_001042681.2(RERE):c.326-8998C>A	RERE	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1341905	NM_001042681.2(RERE):c.116G>A (p.Arg39Gln)	RERE (R39Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2584617	NM_001042681.2:c.325+153_326-10741del	RERE	Deletion	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance