"Ambry Genetics"[submitter] AND "RERE"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2270886	NM_001042681.2(RERE):c.4624C>T (p.His1542Tyr)	RERE (H988Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620246	NM_001042681.2(RERE):c.4591G>T (p.Ala1531Ser)	RERE (A1531S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1031740	NM_001042681.2(RERE):c.4571C>T (p.Ser1524Leu)	RERE (S970L +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 521764	NM_001042681.2(RERE):c.4529C>T (p.Pro1510Leu)	RERE (P1510L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153021	NM_001042681.2(RERE):c.4486+1G>A	RERE	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GUncertain significance
Select item 2228158	NM_001042681.2(RERE):c.4471C>T (p.Arg1491Cys)	RERE (R937C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153020	NM_001042681.2(RERE):c.4430A>G (p.Asn1477Ser)	RERE (N1477S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2229672	NM_001042681.2(RERE):c.4415C>G (p.Pro1472Arg)	RERE (P1472R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537394	NM_001042681.2(RERE):c.4349G>A (p.Gly1450Asp)	RERE (G1450D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227609	NM_001042681.2(RERE):c.4335C>A (p.His1445Gln)	RERE (H1445Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 985689	NM_001042681.2(RERE):c.4326C>A (p.Asp1442Glu)	RERE (D1442E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521311	NM_001042681.2(RERE):c.4297C>G (p.His1433Asp)	RERE (H1433D +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart +1 more	GConflicting classifications of pathogenicity
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 2508585	NM_001042681.2(RERE):c.4262A>G (p.Asn1421Ser)	RERE (N867S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2260962	NM_001042681.2(RERE):c.4259T>C (p.Phe1420Ser)	RERE (F866S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2150642	NM_001042681.2(RERE):c.4207G>A (p.Ala1403Thr)	RERE (A1403T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2228366	NM_001042681.2(RERE):c.4145C>T (p.Ala1382Val)	RERE (A828V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3153019	NM_001042681.2(RERE):c.4136T>C (p.Leu1379Pro)	RERE (L825P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524166	NM_001042681.2(RERE):c.4021G>A (p.Ala1341Thr)	RERE (A1341T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1031184	NM_001042681.2(RERE):c.3999G>C (p.Glu1333Asp)	RERE (E779D +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 2232026	NM_001042681.2(RERE):c.3989A>G (p.Lys1330Arg)	RERE (K1330R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1923730	NM_001042681.2(RERE):c.3954_3955insATCCGGGAGCGTGAG (p.Glu1318_Leu1319insIleArgGluArgGlu)	RERE	Insertion (inframe_insertion)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1543165	NM_001042681.2(RERE):c.3925ATCCGAGAGCGGGAG[1] (p.1309IRERE[1])	RERE	Microsatellite (inframe_deletion)	not provided +1 more	GBenign/Likely benign
Select item 3313642	NM_001042681.2(RERE):c.3950G>C (p.Arg1317Pro)	RERE (R763P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1896335	NM_001042681.2(RERE):c.3949C>T (p.Arg1317Trp)	RERE (R1317W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2296751	NM_001042681.2(RERE):c.3935G>A (p.Arg1312Gln)	RERE (R1312Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1939030	NM_001042681.2(RERE):c.3925A>C (p.Ile1309Leu)	RERE (I1309L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3153018	NM_001042681.2(RERE):c.3910C>A (p.Leu1304Ile)	RERE (L1304I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255865	NM_001042681.2(RERE):c.3899G>A (p.Arg1300His)	RERE (R746H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315785	NM_001042681.2(RERE):c.3897C>G (p.Ile1299Met)	RERE (I745M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2142929	NM_001042681.2(RERE):c.3889C>T (p.Pro1297Ser)	RERE (P1297S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 985443	NM_001042681.2(RERE):c.3884T>C (p.Val1295Ala)	RERE (V1295A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2241873	NM_001042681.2(RERE):c.3826A>G (p.Met1276Val)	RERE (M722V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2190637	NM_001042681.2(RERE):c.3650_3679del (p.Leu1217_Gly1226del)	RERE	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 1939240	NM_001042681.2(RERE):c.3653G>C (p.Ser1218Thr)	RERE (S664T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2159150	NM_001042681.2(RERE):c.3635C>T (p.Ala1212Val)	RERE (A658V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3313652	NM_001042681.2(RERE):c.3599G>T (p.Arg1200Leu)	RERE (R1200L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 731536	NM_001042681.2(RERE):c.3594_3599del (p.1192_1193RE[4])	RERE	Deletion (inframe_deletion)	Inborn genetic diseases +1 more	GLikely benign
Select item 1927133	NM_001042681.2(RERE):c.3593G>A (p.Arg1198Gln)	RERE (R1198Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 985303	NM_001042681.2(RERE):c.3586C>T (p.Arg1196Ter)	RERE (R1196* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 3153016	NM_001042681.2(RERE):c.3536G>A (p.Arg1179Gln)	RERE (R1179Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521657	NM_001042681.2(RERE):c.3536G>T (p.Arg1179Leu)	RERE (R1179L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3313649	NM_001042681.2(RERE):c.3530A>C (p.Lys1177Thr)	RERE (K623T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462819	NM_001042681.2(RERE):c.3514C>T (p.Arg1172Cys)	RERE (R618C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2272269	NM_001042681.2(RERE):c.3475C>A (p.Leu1159Met)	RERE (L1159M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2868169	NM_001042681.2(RERE):c.3473A>C (p.Lys1158Thr)	RERE (K604T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2399513	NM_001042681.2(RERE):c.3463G>A (p.Ala1155Thr)	RERE (A1155T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471894	NM_001042681.2(RERE):c.3395+5G>A	RERE	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2533105	NM_001042681.2(RERE):c.3374G>A (p.Ser1125Asn)	RERE (S1125N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153015	NM_001042681.2(RERE):c.3368C>A (p.Thr1123Asn)	RERE (T1123N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509101	NM_001042681.2(RERE):c.3368C>T (p.Thr1123Ile)	RERE (T1123I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313644	NM_001042681.2(RERE):c.3358G>C (p.Val1120Leu)	RERE (V1120L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 2251392	NM_001042681.2(RERE):c.3260C>G (p.Pro1087Arg)	RERE (P533R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239314	NM_001042681.2(RERE):c.3257G>A (p.Cys1086Tyr)	RERE (C532Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592526	NM_001042681.2(RERE):c.3251C>T (p.Ser1084Leu)	RERE (S1084L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057887	NM_001042681.2(RERE):c.3242C>T (p.Ala1081Val)	RERE (A1081V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2243750	NM_001042681.2(RERE):c.3206C>G (p.Pro1069Arg)	RERE (P1069R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313646	NM_001042681.2(RERE):c.3176C>T (p.Pro1059Leu)	RERE (P1059L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1031180	NM_001042681.2(RERE):c.3158C>T (p.Pro1053Leu)	RERE (P1053L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2354757	NM_001042681.2(RERE):c.3152C>G (p.Thr1051Ser)	RERE (T497S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358547	NM_001042681.2(RERE):c.3149C>T (p.Pro1050Leu)	RERE (P496L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3031280	NM_001042681.2(RERE):c.3143C>T (p.Thr1048Ile)	RERE (T1048I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313647	NM_001042681.2(RERE):c.3134C>A (p.Pro1045His)	RERE (P491H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346669	NM_001042681.2(RERE):c.3133C>T (p.Pro1045Ser)	RERE (P1045S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3153014	NM_001042681.2(RERE):c.3111C>G (p.His1037Gln)	RERE (H1037Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313650	NM_001042681.2(RERE):c.3092A>G (p.Gln1031Arg)	RERE (Q477R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603072	NM_001042681.2(RERE):c.3092A>C (p.Gln1031Pro)	RERE (Q1031P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 712884	NM_001042681.2(RERE):c.3088C>T (p.Pro1030Ser)	RERE (P476S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2408095	NM_001042681.2(RERE):c.3067A>G (p.Thr1023Ala)	RERE (T469A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 728816	NM_001042681.2(RERE):c.3061C>A (p.Pro1021Thr)	RERE (P467T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2289412	NM_001042681.2(RERE):c.3050C>G (p.Pro1017Arg)	RERE (P463R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288419	NM_001042681.2(RERE):c.3050C>T (p.Pro1017Leu)	RERE (P463L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228247	NM_001042681.2(RERE):c.3043C>T (p.Pro1015Ser)	RERE (P461S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495112	NM_001042681.2(RERE):c.2963T>A (p.Leu988Gln)	RERE (L434Q +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 3153013	NM_001042681.2(RERE):c.2952C>A (p.His984Gln)	RERE (H430Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153012	NM_001042681.2(RERE):c.2942C>T (p.Pro981Leu)	RERE (P981L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313635	NM_001042681.2(RERE):c.2855C>T (p.Ser952Leu)	RERE (S398L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2296749	NM_001042681.2(RERE):c.2845C>T (p.Pro949Ser)	RERE (P949S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609261	NM_001042681.2(RERE):c.2821G>A (p.Ala941Thr)	RERE (A387T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585033	NM_001042681.2(RERE):c.2819C>T (p.Pro940Leu)	RERE (P386L +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 2407978	NM_001042681.2(RERE):c.2759C>T (p.Pro920Leu)	RERE (P366L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2435412	NM_001042681.2(RERE):c.2741G>A (p.Arg914Gln)	RERE (R360Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2212765	NM_001042681.2(RERE):c.2704G>C (p.Ala902Pro)	RERE (A348P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2572360	NM_001042681.2(RERE):c.2669C>T (p.Ala890Val)	RERE (A336V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2517166	NM_001042681.2(RERE):c.2665C>T (p.Pro889Ser)	RERE (P335S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153011	NM_001042681.2(RERE):c.2605C>T (p.Pro869Ser)	RERE (P315S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521778	NM_001042681.2(RERE):c.2560C>T (p.Pro854Ser)	RERE (P854S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514888	NM_001042681.2(RERE):c.2542G>A (p.Gly848Ser)	RERE (G848S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2353890	NM_001042681.2(RERE):c.2471C>T (p.Pro824Leu)	RERE (P824L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 429260	NM_001042681.2(RERE):c.2461T>C (p.Ser821Pro)	RERE (S821P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 710188	NM_001042681.2(RERE):c.2449_2460del (p.Pro817_Pro820del)	RERE	Deletion (inframe_deletion)	Inborn genetic diseases +1 more	GLikely benign
Select item 985705	NM_001042681.2(RERE):c.2450CGC[3] (p.Pro818dup)	RERE	Microsatellite (inframe_insertion)	Inborn genetic diseases	GUncertain significance
Select item 2409097	NM_001042681.2(RERE):c.2453C>T (p.Pro818Leu)	RERE (P818L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2395016	NM_001042681.2(RERE):c.2378C>T (p.Ala793Val)	RERE (A239V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313648	NM_001042681.2(RERE):c.2368G>A (p.Ala790Thr)	RERE (A236T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313636	NM_001042681.2(RERE):c.2363C>T (p.Pro788Leu)	RERE (P788L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313643	NM_001042681.2(RERE):c.2306C>G (p.Ser769Cys)	RERE (S769C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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

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