"Revvity Omics, Revvity"[submitter] AND "RERE"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2435399	NM_001042681.2(RERE):c.4412C>T (p.Pro1471Leu)	RERE (P1471L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2435416	NM_001042681.2(RERE):c.4399C>G (p.Arg1467Gly)	RERE (R1467G +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2435415	NM_001042681.2(RERE):c.4331T>G (p.Leu1444Arg)	RERE (L1444R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1325005	NM_001042681.2(RERE):c.4023_4024insT (p.Asn1342Ter)	RERE (N1342* +1 more)	Insertion (nonsense)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GLikely pathogenic
Select item 1031184	NM_001042681.2(RERE):c.3999G>C (p.Glu1333Asp)	RERE (E779D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2435403	NM_001042681.2(RERE):c.3940A>C (p.Ile1314Leu)	RERE (I1314L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2435407	NM_001042681.2(RERE):c.3914G>A (p.Arg1305Gln)	RERE (R1305Q +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2159150	NM_001042681.2(RERE):c.3635C>T (p.Ala1212Val)	RERE (A658V +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 2435411	NM_001042681.2(RERE):c.3531A>C (p.Lys1177Asn)	RERE (K1177N +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2435414	NM_001042681.2(RERE):c.3481A>G (p.Lys1161Glu)	RERE (K1161E +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1212133	NM_001042681.2(RERE):c.3436C>T (p.Arg1146Trp)	RERE (R1146W +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 2435410	NM_001042681.2(RERE):c.3379G>A (p.Ala1127Thr)	RERE (A1127T +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2435402	NM_001042681.2(RERE):c.3136C>T (p.Pro1046Ser)	RERE (P1046S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2435412	NM_001042681.2(RERE):c.2741G>A (p.Arg914Gln)	RERE (R360Q +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1031739	NM_001042681.2(RERE):c.2720T>C (p.Leu907Pro)	RERE (L353P +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2435417	NM_001042681.2(RERE):c.2675C>T (p.Ala892Val)	RERE (A338V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2435413	NM_001042681.2(RERE):c.2530C>T (p.Pro844Ser)	RERE (P290S +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 2435405	NM_001042681.2(RERE):c.2336_2347dup (p.Ser782_Gln783insProThrAlaSer)	RERE	Duplication (inframe_insertion)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2369289	NM_001042681.2(RERE):c.2300C>T (p.Thr767Met)	RERE (T213M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2435409	NM_001042681.2(RERE):c.2285C>T (p.Pro762Leu)	RERE (P208L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2435408	NM_001042681.2(RERE):c.1934_1936del (p.Lys645del)	RERE (K645del +1 more)	Deletion (inframe_deletion)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart +1 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 2435397	NM_001042681.2(RERE):c.938A>G (p.His313Arg)	RERE (H313R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1552098	NM_001042681.2(RERE):c.697G>A (p.Val233Ile)	RERE (V233I)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart +3 more	GConflicting classifications of pathogenicity
Select item 2435401	NM_001042681.2(RERE):c.238C>T (p.Pro80Ser)	RERE (P80S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2435398	NM_001042681.2(RERE):c.224A>G (p.Asn75Ser)	RERE (N75S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2435400	NM_001042681.2(RERE):c.143A>G (p.Lys48Arg)	RERE (K48R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2435404	NM_001042681.2(RERE):c.33_38del (p.Glu12_Lys13del)	RERE	Deletion (inframe_deletion)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance

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Items: 28