"GeneDx"[submitter] AND "RPE65"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	LOC111501769, LOC112590812 +339 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	ACADM, AK4 +331 more	Copy number loss	See cases	GPathogenic
Select item 59972	GRCh38/hg38 1p31.3-31.1(chr1:67239704-71924806)x1	ANKRD13C, ANKRD13C-DT +80 more	Copy number loss	See cases	GPathogenic
Select item 2429668	NM_000329.3(RPE65):c.1562A>T (p.Asn521Ile)	RPE65 (N429I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 98848	NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp)	RPE65 (G484D)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely pathogenic FDA Recognized database
Select item 1236661	NM_000329.3(RPE65):c.1450+104C>T	RPE65	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 850287	NM_000329.3(RPE65):c.1445A>G (p.Asp482Gly)	RPE65 (D482G)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +2 more	GConflicting classifications of pathogenicity
Select item 1307570	NM_000329.3(RPE65):c.1441G>A (p.Glu481Lys)	RPE65 (E481K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 750796	NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly)	RPE65 (D477G)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +5 more	GPathogenic/Likely pathogenic
Select item 1070754	NM_000329.3(RPE65):c.1409C>T (p.Pro470Leu)	RPE65 (P470L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 870343	NM_000329.3(RPE65):c.1380G>A (p.Trp460Ter)	RPE65 (W460*)	Single nucleotide variant (nonsense)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 13116	NM_000329.3(RPE65):c.1355T>G (p.Val452Gly)	RPE65 (V452G)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1255052	NM_000329.3(RPE65):c.1339-39T>C	RPE65	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 98841	NM_000329.3(RPE65):c.1338+20A>C	RPE65	Single nucleotide variant (intron variant)	Retinitis pigmentosa 87 with choroidal involvement +4 more	GBenign
Select item 1208476	NM_000329.3(RPE65):c.1306G>A (p.Gly436Arg)	RPE65 (G436R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 98836	NM_000329.3(RPE65):c.1301C>T (p.Ala434Val)	RPE65 (A434V)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GBenign FDA Recognized database
Select item 29873	NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys)	RPE65 (Y431C)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely pathogenic FDA Recognized database
Select item 421620	NM_000329.3(RPE65):c.1244C>T (p.Ala415Val)	RPE65 (A415V)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely pathogenic FDA Recognized database
Select item 1205157	NM_000329.3(RPE65):c.1243+29G>A	RPE65	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 660359	NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter)	RPE65 (W402*)	Single nucleotide variant (nonsense)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 1696122	NM_000329.3(RPE65):c.1189A>G (p.Ser397Gly)	RPE65 (S397G)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +3 more	GUncertain significance
Select item 1303016	NM_000329.3(RPE65):c.1178C>A (p.Ala393Glu)	RPE65 (A393E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 98828	NM_000329.3(RPE65):c.1155G>A (p.Thr385=)	RPE65	Single nucleotide variant (synonymous variant)	RPE65-related recessive retinopathy	GBenign FDA Recognized database
Select item 1266426	NM_000329.3(RPE65):c.1128+2585A>C	RPE65	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 29870	NM_000329.3(RPE65):c.1102T>C (p.Tyr368His)	RPE65 (Y368H)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 1212838	NM_000329.3(RPE65):c.1078G>A (p.Ala360Thr)	RPE65 (A360T)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GUncertain significance FDA Recognized database
Select item 596673	NM_000329.3(RPE65):c.1067dup (p.Asn356fs)	RPE65 (N356fs)	Duplication (frameshift variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 98820	NM_000329.3(RPE65):c.1056G>A (p.Glu352=)	RPE65	Single nucleotide variant (synonymous variant)	RPE65-related recessive retinopathy	GBenign FDA Recognized database
Select item 13118	NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)	RPE65 (L341S)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 1175543	NM_000329.3(RPE65):c.999-267A>G	RPE65	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244572	NM_000329.3(RPE65):c.998+270C>A	RPE65	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180885	NM_000329.3(RPE65):c.998+207T>C	RPE65	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264975	NM_000329.3(RPE65):c.998+112T>C	RPE65	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1702637	NM_000329.3(RPE65):c.992G>A (p.Trp331Ter)	RPE65 (W331*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 556178	NM_000329.3(RPE65):c.982C>T (p.Leu328Phe)	RPE65 (L328F)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +2 more	GConflicting classifications of pathogenicity
Select item 98903	NM_000329.3(RPE65):c.978G>T (p.Val326=)	RPE65	Single nucleotide variant (synonymous variant)	RPE65-related recessive retinopathy	GLikely benign FDA Recognized database
Select item 951360	NM_000329.3(RPE65):c.953A>G (p.Tyr318Cys)	RPE65 (Y318C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +2 more	GUncertain significance
Select item 1304550	NM_000329.3(RPE65):c.946A>G (p.Asn316Asp)	RPE65 (N316D)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +2 more	GUncertain significance
Select item 29872	NM_000329.3(RPE65):c.907A>T (p.Lys303Ter)	RPE65 (K303*)	Single nucleotide variant (nonsense)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 372493	NM_000329.3(RPE65):c.893del (p.Lys298fs)	RPE65 (K298fs)	Deletion (frameshift variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 92859	NM_000329.3(RPE65):c.881A>C (p.Lys294Thr)	RPE65 (K294T)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely benign FDA Recognized database
Select item 556104	NM_000329.3(RPE65):c.755T>C (p.Phe252Ser)	RPE65 (F252S)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely pathogenic FDA Recognized database
Select item 98889	NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp)	RPE65 (Y239D)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 255839	NM_000329.3(RPE65):c.644-33C>G	RPE65	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 255838	NM_000329.3(RPE65):c.643+22C>T	RPE65	Single nucleotide variant (intron variant)	Leber congenital amaurosis 2 +3 more	GBenign
Select item 98878	NM_000329.3(RPE65):c.609C>T (p.Ala203=)	RPE65	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 20 +2 more	GBenign/Likely benign
Select item 98876	NM_000329.3(RPE65):c.570C>T (p.Tyr190=)	RPE65	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 801497	NM_000329.3(RPE65):c.560G>A (p.Gly187Glu)	RPE65 (G187E)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 98873	NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)	RPE65 (D167Y)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 98872	NM_000329.3(RPE65):c.495+1dup	RPE65 (V166fs)	Duplication (frameshift variant +1 more)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 593308	NM_000329.3(RPE65):c.449A>G (p.Asn150Ser)	RPE65 (N150S)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2 +2 more	GUncertain significance
Select item 968930	NM_000329.3(RPE65):c.433G>A (p.Ala145Thr)	RPE65 (A145T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 98869	NM_000329.3(RPE65):c.432C>T (p.Tyr144=)	RPE65	Single nucleotide variant (synonymous variant)	RPE65-related recessive retinopathy	GBenign FDA Recognized database
Select item 98867	NM_000329.3(RPE65):c.399T>C (p.Leu133=)	RPE65	Single nucleotide variant (synonymous variant)	RPE65-related recessive retinopathy	GBenign FDA Recognized database
Select item 13119	NM_000329.3(RPE65):c.394G>A (p.Ala132Thr)	RPE65 (A132T)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GBenign FDA Recognized database
Select item 98866	NM_000329.3(RPE65):c.370C>T (p.Arg124Ter)	RPE65 (R124*)	Single nucleotide variant (nonsense)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 98860	NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs)	RPE65 (I98fs)	Deletion (frameshift variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 98863	NM_000329.3(RPE65):c.304G>T (p.Glu102Ter)	RPE65 (E102*)	Single nucleotide variant (nonsense)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 98857	NM_000329.3(RPE65):c.272G>A (p.Arg91Gln)	RPE65 (R91Q)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 13115	NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)	RPE65 (R91W)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 1026379	NM_000329.3(RPE65):c.257C>A (p.Thr86Asn)	RPE65 (T86N)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GUncertain significance FDA Recognized database
Select item 1180307	NM_000329.3(RPE65):c.246-46G>A	RPE65	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228478	NM_000329.3(RPE65):c.245+284T>G	RPE65	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269856	NM_000329.3(RPE65):c.245+243C>T	RPE65	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 559523	NM_000329.3(RPE65):c.242G>T (p.Arg81Ile)	RPE65 (R81I)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 98853	NM_000329.3(RPE65):c.231C>A (p.Val77=)	RPE65	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 374497	NM_000329.3(RPE65):c.130C>T (p.Arg44Ter)	RPE65 (R44*)	Single nucleotide variant (nonsense)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 968598	NM_000329.3(RPE65):c.124C>T (p.Leu42Phe)	RPE65 (L42F)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +2 more	GConflicting classifications of pathogenicity
Select item 98830	NM_000329.3(RPE65):c.118G>A (p.Gly40Ser)	RPE65 (G40S)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 1227040	NM_000329.3(RPE65):c.95-212A>G	RPE65	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 98888	NM_000329.3(RPE65):c.65T>C (p.Leu22Pro)	RPE65 (L22P)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely pathogenic FDA Recognized database
Select item 98871	NM_000329.3(RPE65):c.48T>C (p.Phe16=)	RPE65	Single nucleotide variant (synonymous variant)	RPE65-related recessive retinopathy	GLikely benign FDA Recognized database
Select item 1263517	NM_000329.3(RPE65):c.12-281T>C	RPE65	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269757	NM_000329.3(RPE65):c.11+99T>A	RPE65	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 98824	NM_000329.3(RPE65):c.11+34T>A	RPE65	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 98825	NM_000329.3(RPE65):c.11+5G>A	RPE65	Single nucleotide variant (intron variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 77