"PreventionGenetics, part of Exact Sciences"[submitter] AND "RERE"[gen - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2620246	NM_001042681.2(RERE):c.4591G>T (p.Ala1531Ser)	RERE (A1531S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 783922	NM_001042681.2(RERE):c.4528C>A (p.Pro1510Thr)	RERE (P1510T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 3029935	NM_001042681.2(RERE):c.4489A>C (p.Thr1497Pro)	RERE (T1497P +1 more)	Single nucleotide variant (missense variant)	RERE-related disorder	GUncertain significance
Select item 2178481	NM_001042681.2(RERE):c.4233C>T (p.Ser1411=)	RERE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2172154	NM_001042681.2(RERE):c.3930A>G (p.Arg1310=)	RERE	Single nucleotide variant (synonymous variant)	RERE-related disorder +1 more	GLikely benign
Select item 73941	NM_001042681.2(RERE):c.3885C>T (p.Val1295=)	RERE	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2636779	NM_001042681.2(RERE):c.3809G>A (p.Arg1270His)	RERE (R1270H +1 more)	Single nucleotide variant (missense variant)	RERE-related disorder	GUncertain significance
Select item 3033372	NM_001042681.2(RERE):c.3800C>T (p.Pro1267Leu)	RERE (P1267L +1 more)	Single nucleotide variant (missense variant)	RERE-related disorder	GUncertain significance
Select item 721969	NM_001042681.2(RERE):c.3696C>T (p.Phe1232=)	RERE	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 720739	NM_001042681.2(RERE):c.3675T>C (p.Pro1225=)	RERE	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 782354	NM_001042681.2(RERE):c.3588_3599del (p.1192_1193RE[3])	RERE	Deletion (inframe_deletion)	not provided +1 more	GLikely benign
Select item 2071029	NM_001042681.2(RERE):c.3588_3593del (p.1192RE[4])	RERE	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 710835	NM_001042681.2(RERE):c.3570GGAGCG[4] (p.1192RE[6])	RERE	Microsatellite (inframe_insertion)	not provided +2 more	GBenign/Likely benign
Select item 1659966	NM_001042681.2(RERE):c.3570GGAGCG[2] (p.1192RE[4])	RERE	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2184184	NM_001042681.2(RERE):c.3582G>A (p.Arg1194=)	RERE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 715993	NM_001042681.2(RERE):c.3556AAGGAG[2] (p.1186KE[2])	RERE	Microsatellite (inframe_deletion)	not provided +2 more	GBenign/Likely benign
Select item 2629200	NM_001042681.2(RERE):c.3544C>T (p.Arg1182Ter)	RERE (R1182* +1 more)	Single nucleotide variant (nonsense)	RERE-related disorder	GUncertain significance
Select item 3057653	NM_001042681.2(RERE):c.3471C>T (p.Ser1157=)	RERE	Single nucleotide variant (synonymous variant)	RERE-related disorder	GLikely benign
Select item 2629693	NM_001042681.2(RERE):c.3376C>T (p.His1126Tyr)	RERE (H1126Y +1 more)	Single nucleotide variant (missense variant)	RERE-related disorder	GUncertain significance
Select item 3033834	NM_001042681.2(RERE):c.3270C>T (p.Thr1090=)	RERE	Single nucleotide variant (synonymous variant)	RERE-related disorder	GLikely benign
Select item 3057887	NM_001042681.2(RERE):c.3242C>T (p.Ala1081Val)	RERE (A1081V +1 more)	Single nucleotide variant (missense variant)	RERE-related disorder	GLikely benign
Select item 3033629	NM_001042681.2(RERE):c.3195G>A (p.Ser1065=)	RERE	Single nucleotide variant (synonymous variant)	RERE-related disorder	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 +1 more	GUncertain significance
Select item 3048623	NM_001042681.2(RERE):c.3095C>T (p.Pro1032Leu)	RERE (P1032L +1 more)	Single nucleotide variant (missense variant)	RERE-related disorder	GUncertain significance
Select item 445630	NM_001042681.2(RERE):c.3064C>G (p.Pro1022Ala)	RERE (P1022A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3046890	NM_001042681.2(RERE):c.2935C>G (p.His979Asp)	RERE (H425D +1 more)	Single nucleotide variant (missense variant)	RERE-related disorder	GUncertain significance
Select item 3054965	NM_001042681.2(RERE):c.2793G>A (p.Pro931=)	RERE	Single nucleotide variant (synonymous variant)	RERE-related disorder	GLikely benign
Select item 720247	NM_001042681.2(RERE):c.2773A>G (p.Met925Val)	RERE (M371V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1230796	NM_001042681.2(RERE):c.2601C>T (p.Gly867=)	RERE	Single nucleotide variant (synonymous variant)	RERE-related disorder +1 more	GBenign
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 3025377	NM_001042681.2(RERE):c.2496G>A (p.Ser832=)	RERE	Single nucleotide variant (synonymous variant)	not provided +1 more	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 +2 more	GLikely benign
Select item 2629669	NM_001042681.2(RERE):c.2439_2450del (p.Pro817_Pro820del)	RERE	Deletion (inframe_deletion)	RERE-related disorder	GUncertain significance
Select item 2629437	NM_001042681.2(RERE):c.2441C>T (p.Pro814Leu)	RERE (P260L +1 more)	Single nucleotide variant (missense variant)	RERE-related disorder	GUncertain significance
Select item 3025311	NM_001042681.2(RERE):c.2424C>A (p.Pro808=)	RERE	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2638171	NM_001042681.2(RERE):c.2379G>A (p.Ala793=)	RERE	Single nucleotide variant (synonymous variant)	RERE-related disorder +1 more	GBenign/Likely benign
Select item 2628929	NM_001042681.2(RERE):c.2270G>A (p.Gly757Glu)	RERE (G203E +1 more)	Single nucleotide variant (missense variant)	RERE-related disorder	GUncertain significance
Select item 1423473	NM_001042681.2(RERE):c.2012C>T (p.Thr671Met)	RERE (T671M +1 more)	Single nucleotide variant (missense variant)	RERE-related disorder +1 more	GUncertain significance
Select item 2280979	NM_001042681.2(RERE):c.1973C>T (p.Thr658Met)	RERE (T658M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2322266	NM_001042681.2(RERE):c.1808A>G (p.Asn603Ser)	RERE (N603S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2570714	NM_001042681.2(RERE):c.1739C>T (p.Ser580Leu)	RERE (S26L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 713321	NM_001042681.2(RERE):c.1540+10C>T	RERE	Single nucleotide variant (intron variant)	RERE-related disorder +1 more	GBenign
Select item 1599655	NM_001042681.2(RERE):c.1524C>T (p.Arg508=)	RERE	Single nucleotide variant (synonymous variant +1 more)	RERE-related disorder +2 more	GBenign/Likely benign
Select item 3034956	NM_001042681.2(RERE):c.1479C>T (p.Phe493=)	RERE	Single nucleotide variant (synonymous variant +1 more)	RERE-related disorder	GLikely benign
Select item 1222151	NM_001042681.2(RERE):c.1419A>G (p.Thr473=)	RERE	Single nucleotide variant (synonymous variant +1 more)	RERE-related disorder +1 more	GBenign
Select item 3061466	NM_001042681.2(RERE):c.1410C>T (p.Pro470=)	RERE	Single nucleotide variant (synonymous variant +1 more)	RERE-related disorder	GLikely benign
Select item 782678	NM_001042681.2(RERE):c.1401G>A (p.Ala467=)	RERE	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3054674	NM_001042681.2(RERE):c.1348C>T (p.His450Tyr)	RERE (H450Y)	Single nucleotide variant (missense variant +1 more)	RERE-related disorder	GLikely benign
Select item 711834	NM_001042681.2(RERE):c.1274A>G (p.Asn425Ser)	RERE (N425S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3057888	NM_001042681.2(RERE):c.1272C>T (p.Pro424=)	RERE	Single nucleotide variant (synonymous variant +1 more)	RERE-related disorder	GLikely benign
Select item 789688	NM_001042681.2(RERE):c.1117G>A (p.Gly373Ser)	RERE (G373S)	Single nucleotide variant (missense variant)	RERE-related disorder +1 more	GLikely benign
Select item 2628835	NM_001042681.2(RERE):c.812G>C (p.Gly271Ala)	RERE (G271A)	Single nucleotide variant (missense variant)	RERE-related disorder	GUncertain significance
Select item 1497851	NM_001042681.2(RERE):c.725+3A>G	RERE	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
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

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Items: 54