RERE[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 58242	GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	LOC121967050, LOC121967051 +520 more	Copy number loss	See cases	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 58294	GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1	ACAP3, ACOT7 +519 more	Copy number loss	See cases	GPathogenic
Select item 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +578 more	Copy number loss	See cases	GPathogenic
Select item 154548	GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	LRRC47, MEGF6 +564 more	Copy number loss	See cases	GPathogenic
Select item 153663	GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	LOC129929302, LOC129929303 +577 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 58051	GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3	AADACL3, AADACL4 +387 more	Copy number gain	See cases	GPathogenic
Select item 154639	GRCh38/hg38 1p36.31-36.23(chr1:6763143-8367573)x1	CAMTA1, CAMTA1-AS1 +63 more	Copy number loss	See cases	GUncertain significance
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 146535	GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1	AGTRAP, ANGPTL7 +309 more	Copy number loss	See cases	GPathogenic
Select item 3368850	NM_001042681.2(RERE):c.4698A>C (p.Leu1566Phe)	RERE (L1012F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2070482	NM_001042681.2(RERE):c.4671A>C (p.Arg1557=)	RERE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2163771	NM_001042681.2(RERE):c.4668-5T>C	RERE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1622098	NM_001042681.2(RERE):c.4668-15G>A	RERE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1636478	NM_001042681.2(RERE):c.4638C>T (p.Gly1546=)	RERE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638158	NM_001042681.2(RERE):c.4627A>G (p.Met1543Val)	RERE (M1543V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804792	NM_001042681.2(RERE):c.4626C>A (p.His1542Gln)	RERE (H1542Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2706156	NM_001042681.2(RERE):c.4624C>A (p.His1542Asn)	RERE (H1542N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2991891	NM_001042681.2(RERE):c.4623C>T (p.Pro1541=)	RERE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1690607	NM_001042681.2(RERE):c.4620C>G (p.His1540Gln)	RERE (H1540Q +1 more)	Single nucleotide variant (missense variant)	See cases +1 more	GUncertain significance
Select item 2114186	NM_001042681.2(RERE):c.4594A>G (p.Met1532Val)	RERE (M1532V +1 more)	Single nucleotide variant (missense variant)	not provided	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 2867381	NM_001042681.2(RERE):c.4575C>T (p.Ala1525=)	RERE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2578290	NM_001042681.2(RERE):c.4562A>G (p.His1521Arg)	RERE (H1521R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3347148	NM_001042681.2(RERE):c.4560G>C (p.Met1520Ile)	RERE (M1520I +1 more)	Single nucleotide variant (missense variant)	RERE-related disorder	GUncertain significance
Select item 452752	NM_001042681.2(RERE):c.4550T>A (p.Leu1517Gln)	RERE (L1517Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2672321	NM_001042681.2(RERE):c.4545C>T (p.His1515=)	RERE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638159	NM_001042681.2(RERE):c.4538C>T (p.Ala1513Val)	RERE (A1513V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2709404	NM_001042681.2(RERE):c.4532T>C (p.Met1511Thr)	RERE (M957T +1 more)	Single nucleotide variant (missense variant)	not provided	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 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 2150683	NM_001042681.2(RERE):c.4519A>G (p.Ile1507Val)	RERE (I1507V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1504318	NM_001042681.2(RERE):c.4516G>A (p.Ala1506Thr)	RERE (A1506T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1600804	NM_001042681.2(RERE):c.4515G>T (p.Gly1505=)	RERE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2419875	NM_001042681.2(RERE):c.4491C>A (p.Thr1497=)	RERE	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 2052032	NM_001042681.2(RERE):c.4488C>T (p.Gly1496=)	RERE	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2888126	NM_001042681.2(RERE):c.4487-5G>A	RERE	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1961234	NM_001042681.2(RERE):c.4487-5G>T	RERE	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3365653	NM_001042681.2(RERE):c.4487-7T>A	RERE	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1987256	NM_001042681.2(RERE):c.4486+13dup	RERE	Duplication (intron variant)	not provided	GBenign
Select item 1532342	NM_001042681.2(RERE):c.4486+14T>G	RERE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1960762	NM_001042681.2(RERE):c.4486+10C>T	RERE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1591119	NM_001042681.2(RERE):c.4486+10C>G	RERE	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 3024842	NM_001042681.2(RERE):c.4485C>T (p.Phe1495=)	RERE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2499785	NM_001042681.2(RERE):c.4475A>C (p.His1492Pro)	RERE (H1492P +1 more)	Single nucleotide variant (missense variant)	not provided	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 806046	NM_001042681.2(RERE):c.4469T>C (p.Leu1490Pro)	RERE (L936P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1173038	NM_001042681.2(RERE):c.4468C>T (p.Leu1490Phe)	RERE (L1490F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960175	NM_001042681.2(RERE):c.4467G>A (p.Met1489Ile)	RERE (M1489I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672199	NM_001042681.2(RERE):c.4457A>G (p.Glu1486Gly)	RERE (E1486G +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 3340805	NM_001042681.2(RERE):c.4456G>A (p.Glu1486Lys)	RERE (E932K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504331	NM_001042681.2(RERE):c.4456G>T (p.Glu1486Ter)	RERE (E1486* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1313254	NM_001042681.2(RERE):c.4455C>A (p.His1485Gln)	RERE (H1485Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2096768	NM_001042681.2(RERE):c.4453C>T (p.His1485Tyr)	RERE (H1485Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 721989	NM_001042681.2(RERE):c.4451C>T (p.Pro1484Leu)	RERE (P1484L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2026843	NM_001042681.2(RERE):c.4449C>G (p.Pro1483=)	RERE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2638160	NM_001042681.2(RERE):c.4428C>T (p.Pro1476=)	RERE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1686125	NM_001042681.2(RERE):c.4427C>T (p.Pro1476Leu)	RERE (P1476L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GPathogenic
Select item 1307326	NM_001042681.2(RERE):c.4420A>G (p.Thr1474Ala)	RERE (T1474A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971021	NM_001042681.2(RERE):c.4419C>T (p.Gly1473=)	RERE	Single nucleotide variant (synonymous variant)	not provided	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 1601418	NM_001042681.2(RERE):c.4413G>A (p.Pro1471=)	RERE	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2581576	NM_001042681.2(RERE):c.4407C>T (p.Pro1469=)	RERE	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2577728	NM_001042681.2(RERE):c.4406C>G (p.Pro1469Arg)	RERE (P1469R +1 more)	Single nucleotide variant (missense variant)	not provided	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 992348	NM_001042681.2(RERE):c.4396G>C (p.Ala1466Pro)	RERE (A1466P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 391564	NM_001042681.2(RERE):c.4391A>G (p.His1464Arg)	RERE (H1464R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2019890	NM_001042681.2(RERE):c.4389C>T (p.Pro1463=)	RERE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1950701	NM_001042681.2(RERE):c.4384G>A (p.Gly1462Ser)	RERE (G1462S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1549227	NM_001042681.2(RERE):c.4383C>T (p.Ala1461=)	RERE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2174575	NM_001042681.2(RERE):c.4368C>T (p.Val1456=)	RERE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1308189	NM_001042681.2(RERE):c.4361C>T (p.Pro1454Leu)	RERE (P1454L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578559	NM_001042681.2(RERE):c.4356T>G (p.Val1452=)	RERE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 982578	NM_001042681.2(RERE):c.4354G>A (p.Val1452Ile)	RERE (V1452I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1557472	NM_001042681.2(RERE):c.4350C>T (p.Gly1450=)	RERE	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1311082	NM_001042681.2(RERE):c.4349G>T (p.Gly1450Val)	RERE (G1450V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2071491	NM_001042681.2(RERE):c.4339+8_4339+17del	RERE	Deletion (intron variant)	not provided	GLikely benign
Select item 2786694	NM_001042681.2(RERE):c.4339+16T>C	RERE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2172769	NM_001042681.2(RERE):c.4339+5G>A	RERE	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1015749	NM_001042681.2(RERE):c.4339+3G>A	RERE	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 2802643	NM_001042681.2(RERE):c.4326C>T (p.Asp1442=)	RERE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 562007	NM_001042681.2(RERE):c.4319A>G (p.Gln1440Arg)	RERE (Q1440R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GPathogenic
Select item 418456	NM_001042681.2(RERE):c.4307TCCACC[3] (p.1436LH[3])	RERE	Microsatellite (inframe_insertion)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart +1 more	GPathogenic

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